AiPD: Autoinhibited Protein Database

Q9Y5I1

Gene name	PCDHA11 (CNRS7)
Protein name	Protocadherin alpha-11
Names	PCDH-alpha-11
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56138
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

725-949 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

725-949 (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 Q9Y5I1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5I1-F1	Predicted				AlphaFoldDB

1026 variants for Q9Y5I1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508600 CA3454461 rs150254638	806	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1562622538 CA361313487	7	R>G		No	ClinGen Ensembl
CA128378142 rs371936789	8	G>*		No	ClinGen gnomAD
rs781973798 CA3451663	11	T>S		No	ClinGen ExAC gnomAD
rs782251882 CA3451664	13	R>*		No	ClinGen ExAC gnomAD
rs782396331 CA3451665	13	R>L		No	ClinGen ExAC gnomAD
rs1158270305 CA361313674	15	Q>R		No	ClinGen TOPMed
rs74664704 CA361313728	18	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74664704 CA3451666	18	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782164931 CA3451667	19	L>F		No	ClinGen ExAC
CA3451670 rs782094054	22	E>*		No	ClinGen ExAC gnomAD
rs200717410 CA361313898	25	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs200962401 CA3451671	25	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451674 rs782798909	26	V>A		No	ClinGen ExAC gnomAD
CA361313916 rs782798909	26	V>G		No	ClinGen ExAC gnomAD
rs782530772 CA3451673	26	V>M		No	ClinGen ExAC gnomAD
CA3451677 rs781787163	28	S>N		No	ClinGen ExAC gnomAD
rs200563745 CA3451679	29	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451680 rs200563745	29	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554162601 CA361313966	29	G>V		No	ClinGen gnomAD
TCGA novel	30	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215630740 CA361313989	30	Q>H		No	ClinGen TOPMed
CA128378179 rs782002128	30	Q>L		No	ClinGen Ensembl
rs1554162619 CA361313995	31	L>H		No	ClinGen gnomAD
CA361314027 rs1315511579	32	H>Q		No	ClinGen TOPMed gnomAD
CA3451682 rs202010088	33	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199956165 CA3451683	34	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781925229 CA3451685	35	V>A		No	ClinGen ExAC TOPMed gnomAD
CA361314094 rs192388233	35	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs192388233 CA3451684	35	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451688 rs781978731	36	S>*		No	ClinGen ExAC TOPMed gnomAD
CA361314123 rs781978731	36	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3451687 rs782345986	36	S>P		No	ClinGen ExAC gnomAD
TCGA novel	36	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	38	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361314183 rs868939117	38	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	38	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451690 rs543814850	39	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1469075244 CA361314224	40	K>R		No	ClinGen TOPMed
rs782726206 CA3451693	42	G>D		No	ClinGen ExAC gnomAD
rs782048898 CA3451692	42	G>R		No	ClinGen ExAC gnomAD
rs782726206 CA361314270	42	G>V		No	ClinGen ExAC gnomAD
rs781820629 CA3451694	43	T>I		No	ClinGen ExAC gnomAD
rs782097851 CA3451695	44	F>V		No	ClinGen ExAC gnomAD
rs781873875 CA3451698 CA3451697	45	V>L		No	ClinGen ExAC gnomAD
CA361314347 rs1262436049	46	G>D		No	ClinGen TOPMed
rs781799282 CA3451700	47	R>C		No	ClinGen ExAC gnomAD
rs1554162716 COSM448816 CA361314368	47	R>H	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361314373 rs1554162716	47	R>L		No	ClinGen gnomAD
rs782617385 CA3451702	48	I>F		No	ClinGen ExAC gnomAD
CA3451703 rs782232383	48	I>T		No	ClinGen ExAC gnomAD
rs1485152117 CA361314398	49	A>S		No	ClinGen TOPMed gnomAD
rs1485152117 COSM1594814 COSM1062303 CA361314392	49	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361314407 COSM1062304 rs1554162740	49	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361314428 rs1204781858	50	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	51	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	52	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451706 rs782291113	53	G>E		No	ClinGen ExAC gnomAD
CA128378236 CA361314476 rs976245495	53	G>R		No	ClinGen gnomAD
rs782308224 CA3451707	54	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3451708 rs782020247	56	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3451709 rs782135758	57	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1581880661 CA361314610	60	V>G		No	ClinGen Ensembl
TCGA novel	61	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451710 rs201493000	61	Q>P		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA3451712 rs782369184	62	R>G		No	ClinGen ExAC gnomAD
CA128378242 rs950790626 COSM3776289 COSM3776290	62	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs950790626 CA361314655	62	R>L		No	ClinGen TOPMed gnomAD
CA3451714 rs782078089	63	L>Q		No	ClinGen ExAC
rs781970349 CA3451713	63	L>V		No	ClinGen ExAC gnomAD
rs782726122 CA3451715	65	R>G		No	ClinGen ExAC gnomAD
CA3451716 rs781788461	65	R>Q		No	ClinGen ExAC
CA361314691 rs782726122	65	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361314717 rs1581882567	66	V>G		No	ClinGen Ensembl
CA361314733 rs1403563775	67	A>E		No	ClinGen TOPMed gnomAD
CA128378255 rs985203011	67	A>P		No	ClinGen Ensembl
CA361314736 rs1403563775	67	A>V		No	ClinGen TOPMed gnomAD
rs367976285 CA128378258	68	S>C		No	ClinGen Ensembl
rs782161322 CA3451720	70	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1373742506 CA361314809	72	G>A		No	ClinGen TOPMed gnomAD
rs1169893950 CA361314827 CA361314825	73	D>E		No	ClinGen TOPMed gnomAD
CA361314838 rs1581884799	74	L>P		No	ClinGen Ensembl
rs1426806563 CA361314833	74	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	75	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554162906 CA361314863	76	E>G		No	ClinGen gnomAD
CA361314878 rs1554162910	77	V>L		No	ClinGen gnomAD
rs781863950 CA3451722	78	N>S		No	ClinGen ExAC
rs782505088 CA3451723	80	Q>R		No	ClinGen ExAC gnomAD
rs540952410 CA3451724	81	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540952410 CA361314932	81	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781810947 CA361314941	81	N>K		No	ClinGen ExAC TOPMed gnomAD
rs782687742 CA3451727	82	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3451726 rs782437200	82	G>R		No	ClinGen ExAC gnomAD
rs782687742 CA361314951	82	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1197202286 CA361314955	83	I>V		No	ClinGen TOPMed
rs782282863 CA3451728	84	L>S		No	ClinGen ExAC gnomAD
CA361314969 rs1562627023	84	L>V		No	ClinGen Ensembl
rs1250379186 CA361315017	86	V>A		No	ClinGen TOPMed
CA361315032 rs1201912812	87	N>S		No	ClinGen TOPMed gnomAD
CA3451730 rs559164668	90	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	91	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs937991513 CA128378286	91	D>Y		No	ClinGen Ensembl
rs1055077118 CA128378288	92	R>S		No	ClinGen TOPMed
rs1315666503 CA361315111	93	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781932514 CA3451734	94	E>*		No	ClinGen ExAC gnomAD
rs781932514 CA3451733	94	E>K		No	ClinGen ExAC gnomAD
CA128378298 rs949262123	96	C>G		No	ClinGen gnomAD
CA3451736 rs372231398	97	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361315196 rs1380348501	98	Q>*		No	ClinGen TOPMed
rs782754440 CA3451738	98	Q>R		No	ClinGen ExAC gnomAD
CA3451739 rs782134920 CA361315224	99	S>R		No	ClinGen ExAC TOPMed gnomAD
rs188796483 CA3451740	100	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451741 rs782029332	102	C>F		No	ClinGen ExAC TOPMed gnomAD
rs781906273 CA3451742	103	S>G		No	ClinGen ExAC TOPMed gnomAD
CA361315281 rs1554163034	103	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782550413 CA3451743	106	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3451744 rs782783919	107	E>G		No	ClinGen ExAC gnomAD
TCGA novel	108	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451748 rs73793507	109	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128378327 rs1006497068	109	I>T		No	ClinGen TOPMed gnomAD
CA3451745 rs781860422	109	I>V		No	ClinGen ExAC gnomAD
CA361315377 rs1562628312	110	V>A		No	ClinGen Ensembl
CA3451749 rs782430805	110	V>L		No	ClinGen ExAC gnomAD
rs1554163053 CA361315387	111	D>G		No	ClinGen gnomAD
rs749429632 CA128378372	113	P>A		No	ClinGen Ensembl
CA128378390 rs966295910	116	V>G		No	ClinGen Ensembl
CA361315442 rs1562628506	116	V>L		No	ClinGen Ensembl
rs1554163081 CA361315480	118	H>Q		No	ClinGen TOPMed
CA3451752 rs782269395	118	H>R		No	ClinGen ExAC gnomAD
CA3451753 rs372195509	120	N>D		No	ClinGen ExAC TOPMed gnomAD
CA361315510 rs1554163094	120	N>K		No	ClinGen gnomAD
CA361315518 rs1291817814	121	V>G		No	ClinGen TOPMed
CA128378398 rs1026448396	121	V>M		No	ClinGen gnomAD
CA361315535 rs781981842	122	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1221686748 CA361315533	122	E>V		No	ClinGen TOPMed
CA361315546 rs1554163114	123	V>A		No	ClinGen gnomAD
rs530490517 CA3451755	125	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530490517 CA3451756	125	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781927972 CA3451757	126	I>V		No	ClinGen ExAC gnomAD
CA3451760 rs782167038	127	N>K		No	ClinGen ExAC gnomAD
CA3451763 rs373157192	128	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782005031 CA3451761	128	D>Y		No	ClinGen ExAC gnomAD
CA361315637 rs1581895334	129	N>T		No	ClinGen Ensembl
rs1554163155 CA361315659	131	P>S		No	ClinGen gnomAD
rs200485559 CA128378430	133	F>Y		No	ClinGen 1000Genomes
CA361315703 rs959374162	134	S>*		No	ClinGen TOPMed gnomAD
CA128378433 rs959374162	134	S>L		No	ClinGen TOPMed gnomAD
CA361315706 rs959374162	134	S>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3451766 rs782699561	135	L>V		No	ClinGen ExAC gnomAD
rs199564677 CA3451768	136	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451767 rs199564677	136	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361315733 rs1160788033	136	R>S		No	ClinGen TOPMed gnomAD
CA3451769 rs782635875	137	E>K		No	ClinGen ExAC gnomAD
rs782236624 CA3451770	140	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3451772 rs782592420	142	I>V		No	ClinGen ExAC gnomAD
rs782191099 CA3451773	143	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361315814 rs1156538329	143	A>T		No	ClinGen TOPMed
rs782191099 COSM3768171 COSM3768172 CA128378441	143	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361315827 rs1481186054	144	E>*		No	ClinGen TOPMed
rs566327842 CA128378452	144	E>D		No	ClinGen 1000Genomes
CA128378457 COSM1722457 rs551651050 COSM1722456	145	S>C	NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs782023058 CA3451776	146	K>E		No	ClinGen ExAC gnomAD
TCGA novel	146	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554163218 CA361315862	147	Q>*		No	ClinGen gnomAD
CA128378466 rs201504685	148	S>*		No	ClinGen 1000Genomes TOPMed
rs537127263 CA3451778	150	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570153514 CA3451777	150	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361315941 rs537127263	150	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451779 rs781968482	153	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361316008 rs1554163237	155	E>D		No	ClinGen gnomAD
CA361315997 rs782325882	155	E>K		No	ClinGen ExAC gnomAD
rs782325882 CA3451781	155	E>Q		No	ClinGen ExAC gnomAD
CA128378482 rs1042691818	155	E>V		No	ClinGen Ensembl
CA3451782 rs200465902	156	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451783 rs782163731	157	A>D		No	ClinGen ExAC gnomAD
CA128378486 rs375272234	157	A>T		No	ClinGen TOPMed
CA128378495 rs774391357	158	S>C		No	ClinGen Ensembl
rs1325973038 CA361316063	159	D>E		No	ClinGen TOPMed
CA128378497 rs936485472	160	A>V		No	ClinGen gnomAD
CA361316103 rs1404476349	162	I>S		No	ClinGen TOPMed gnomAD
CA361316101 rs1404476349	162	I>T		No	ClinGen TOPMed gnomAD
CA361316096 rs1581901588	162	I>V		No	ClinGen Ensembl
CA3451786 rs782105068	163	E>G		No	ClinGen ExAC gnomAD
rs372301742 CA3451785	163	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451787 rs782754801	166	A>V		No	ClinGen ExAC TOPMed gnomAD
CA361316213 rs1554163287	169	T>I		No	ClinGen gnomAD
CA3451793 rs373081906	171	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554163306 CA361316269	171	R>S		No	ClinGen gnomAD
rs1554163296 CA361316264	171	R>W		No	ClinGen gnomAD
CA361316273 rs782525218	172	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	175	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1562631338 CA361316352	175	N>K		No	ClinGen Ensembl
TCGA novel	175	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451796 rs376162708	177	Y>C		No	ClinGen ESP ExAC TOPMed
rs1193832073 CA361316467	180	L>V		No	ClinGen TOPMed
TCGA novel	181	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451798 rs782595471	186	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782182212 CA3451799	186	G>V		No	ClinGen ExAC TOPMed gnomAD
CA3451800 rs782419090	187	K>R		No	ClinGen ExAC gnomAD
rs1461591468 CA361316680	189	I>T		No	ClinGen TOPMed gnomAD
rs540975019 CA3451801	189	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	191	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1040647730 CA128378544	191	R>T		No	ClinGen Ensembl
CA3451802 rs782130952	195	I>F		No	ClinGen ExAC TOPMed gnomAD
rs902099652 CA128378547	196	L>*		No	ClinGen Ensembl
CA3451803 rs782372405	197	K>N		No	ClinGen ExAC gnomAD
CA128378550 rs552852780	198	K>N		No	ClinGen 1000Genomes
rs10071369 CA3451807	199	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451805 rs782072995	199	S>P		No	ClinGen ExAC gnomAD
rs10071369 VAR_048538 CA3451806	199	S>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361316905 rs1271953937	201	D>N		No	ClinGen TOPMed gnomAD
CA128378566 rs886632465	206	P>L		No	ClinGen Ensembl
CA3451808 rs782155135	207	E>A		No	ClinGen ExAC gnomAD
CA361317041 rs1326402140	208	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	209	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361317070 rs1319130298	209	N>K		No	ClinGen TOPMed gnomAD
CA361317059 rs1554163384	209	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782783003 CA3451809	210	L>S		No	ClinGen ExAC gnomAD
rs1454972321 CA361317105	212	L>P		No	ClinGen TOPMed gnomAD
rs782611153 CA3451812	213	T>K		No	ClinGen ExAC gnomAD
CA361317155 rs1554163400	215	T>K		No	ClinGen gnomAD
CA361317158 rs1554163400	215	T>R		No	ClinGen gnomAD
rs1016375825 CA128378613	216	D>N		No	ClinGen TOPMed
rs1467855920 CA361317174	216	D>V		No	ClinGen TOPMed
rs1398153775 CA361317191 CA361317188	217	G>R		No	ClinGen TOPMed gnomAD
CA361317192 rs1398153775	217	G>W		No	ClinGen TOPMed gnomAD
CA3451815 rs563116049	218	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361317208 rs1168032645	218	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782673770 CA3451816	220	P>S		No	ClinGen ExAC gnomAD
rs376277801 CA3451817	221	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554163420 CA361317260	221	E>K		No	ClinGen gnomAD
CA361317313 rs1554163429	223	T>I		No	ClinGen gnomAD
CA361317315 rs1554163437	224	G>S		No	ClinGen gnomAD
CA3451819 rs184691375	225	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554163444 CA361317361	226	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs990827650 CA361317387	227	R>L		No	ClinGen TOPMed gnomAD
COSM1434004 rs990827650 CA128378633	227	R>Q	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3451823 rs782296742	227	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554163459 CA361317399	228	L>P		No	ClinGen gnomAD
CA361317403 rs782425741	229	L>I		No	ClinGen ExAC gnomAD
TCGA novel	231	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451827 rs782748267	232	V>D		No	ClinGen ExAC gnomAD
rs1562634037 CA361317475	232	V>I		No	ClinGen Ensembl
rs545569437 CA3451831	235	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451833 rs782789559	237	D>V		No	ClinGen ExAC gnomAD
TCGA novel	240	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	241	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451835 rs782478328	244	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3451836 CA3451837 rs374182289	245	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs782569950 CA3451838	246	E>G		No	ClinGen ExAC TOPMed gnomAD
CA361317803 rs782569950	246	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1408875478 CA361317905	250	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1368092611 CA361317937	252	M>I		No	ClinGen TOPMed gnomAD
rs1554163543 CA361317933	252	M>T		No	ClinGen gnomAD
rs1554163548 CA361317964	254	N>T		No	ClinGen gnomAD
rs1554163562 CA361317994	255	A>D		No	ClinGen gnomAD
CA361317986 rs1165429955	255	A>T		No	ClinGen TOPMed gnomAD
CA361318023 rs1384511373	256	A>V		No	ClinGen TOPMed
rs781975601 CA3451842	259	T>N		No	ClinGen ExAC gnomAD
CA361318113 rs1181573683	260	L>P		No	ClinGen TOPMed
CA3451843 rs782219538	262	L>F		No	ClinGen ExAC gnomAD
TCGA novel	262	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361318191 rs1234875307	264	L>Q		No	ClinGen TOPMed gnomAD
rs375422597 CA3451844	264	L>V		No	ClinGen ExAC TOPMed gnomAD
rs781921753 CA3451845	265	N>Y		No	ClinGen ExAC gnomAD
rs189065461 CA361318301	269	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1062312 CA3451848 rs781996593 COSM1594836	269	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782111162 CA361318349	270	D>E		No	ClinGen ExAC TOPMed gnomAD
rs782742972 COSM283784 CA3451850	271	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1554163605 CA361318418	273	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3451851 rs781820550	275	G>E		No	ClinGen ExAC TOPMed gnomAD
CA361318493 rs1291685236	277	V>I		No	ClinGen TOPMed gnomAD
rs1554163630 CA361318509	278	T>I		No	ClinGen gnomAD
rs377186222 CA3451853	279	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	279	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528075021 CA3451855	281	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782647258 CA3451856	282	M>K		No	ClinGen ExAC gnomAD
rs781865487 CA3451857	284	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1440976469 CA361318616	285	K>E		No	ClinGen TOPMed
CA3451858 rs782483772	285	K>R		No	ClinGen ExAC gnomAD
rs1554163660 CA361318663	287	N>H		No	ClinGen gnomAD
CA128378759 rs546576795	287	N>K		No	ClinGen 1000Genomes TOPMed
rs782588471 CA3451859	287	N>S		No	ClinGen ExAC gnomAD
CA361318712 rs1562636229	288	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs147407508 CA3451861	289	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451862 rs782424515	290	H>L		No	ClinGen ExAC gnomAD
rs782664221 CA361318752	290	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1562636456 CA361318763	291	L>S		No	ClinGen Ensembl
CA3451864 rs782258774	293	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3451865 rs782366114	294	L>V		No	ClinGen ExAC gnomAD
CA3451866 rs781968863	295	D>Y		No	ClinGen ExAC gnomAD
rs1162587306 CA361318893	298	N>S		No	ClinGen TOPMed gnomAD
CA3451869 rs781915766	299	G>A		No	ClinGen ExAC gnomAD
rs782322898 CA3451868	299	G>R		No	ClinGen ExAC gnomAD
rs782788057 CA3451871	300	E>K		No	ClinGen ExAC gnomAD
rs1006397532 CA128378807	301	V>A		No	ClinGen Ensembl
CA3451872 rs374513388	301	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451873 rs782103858	304	N>S		No	ClinGen ExAC gnomAD
rs1554163708 CA361319009	305	G>*		No	ClinGen gnomAD
rs1554163708 CA361319004	305	G>R		No	ClinGen gnomAD
CA3451876 rs782441014	306	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3451875 rs371365026	306	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451877 rs782684247	307	L>F		No	ClinGen ExAC gnomAD
rs1554163715 CA361319031	307	L>V		No	ClinGen gnomAD
rs1562637357 COSM1434006 CA361319048	308	D>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA361319078 rs1201766971	309	Y>F		No	ClinGen TOPMed gnomAD
CA361319123 rs1490530166	311	E>G		No	ClinGen TOPMed
CA3451878 rs781886107	312	N>D		No	ClinGen ExAC gnomAD
rs1268813918 CA361319136	312	N>S		No	ClinGen TOPMed gnomAD
rs1562637589 CA361319179	314	F>L		No	ClinGen Ensembl
rs1581926444 CA361319173	314	F>S		No	ClinGen Ensembl
CA3451879 rs782520778	317	I>L		No	ClinGen ExAC TOPMed gnomAD
CA361319225 rs895309313	317	I>M		No	ClinGen TOPMed gnomAD
TCGA novel	317	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451880 rs782629825	317	I>T		No	ClinGen ExAC gnomAD
rs782520778 CA361319217	317	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361319226 rs868919509	318	E>K		No	ClinGen Ensembl
rs1554163774 CA361319268	320	Q>R		No	ClinGen gnomAD
rs782336770 CA3451882	323	D>G		No	ClinGen ExAC gnomAD
rs1554163779 CA361320639	323	D>Y		No	ClinGen gnomAD
TCGA novel	326	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361320764 rs1284806343	327	P>L		No	ClinGen TOPMed
rs1326686779 CA361320745	327	P>T		No	ClinGen TOPMed gnomAD
rs200687541 CA3451887	328	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451886 rs200687541	328	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451888 rs782364525	329	M>K		No	ClinGen ExAC TOPMed gnomAD
CA361320782 rs782364525	329	M>T		No	ClinGen ExAC TOPMed gnomAD
CA361320791 rs1562638307	330	A>T		No	ClinGen Ensembl
CA3451889 rs181372298	332	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361320874 rs1554163812	333	C>R		No	ClinGen gnomAD
CA361320877 rs1345689033	333	C>Y		No	ClinGen TOPMed
CA3451890 rs782066407	334	T>R		No	ClinGen ExAC gnomAD
CA361320926 rs1581930222	335	V>G		No	ClinGen Ensembl
rs112749867 CA361320939	336	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3451891 rs570133503	336	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs112749867 CA128378860	336	W>C		No	ClinGen TOPMed gnomAD
rs782151190 CA3451893	337	V>G		No	ClinGen ExAC gnomAD
rs781902121 CA3451892	337	V>L		No	ClinGen ExAC gnomAD
rs781902121 CA361320942	337	V>M		No	ClinGen ExAC gnomAD
rs1581931326 CA361320976	338	E>G		No	ClinGen Ensembl
CA3451895 rs782777018	341	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	341	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361321138 rs371110623	343	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782486118 CA3451897	343	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781855370 CA3451896	343	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1554163840 CA361321232	345	N>T		No	ClinGen TOPMed
CA3451900 rs782428763	347	P>S		No	ClinGen ExAC gnomAD
CA361321448 rs1554163855	351	V>A		No	ClinGen gnomAD
CA361321442 rs1243170344	351	V>L		No	ClinGen TOPMed gnomAD
rs1243170344 CA361321443	351	V>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	352	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463817234 CA361321465	352	T>S		No	ClinGen TOPMed
rs745813666 CA128378880	353	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	354	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361321518 rs1223679164	354	L>F		No	ClinGen TOPMed
rs558780713 CA3451904	356	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3451906 rs184228916	359	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451905 rs184228916	359	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451907 rs368166956	362	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554163883 CA361321659	363	Q>*		No	ClinGen TOPMed gnomAD
rs1432649344 CA361321698	364	P>L		No	ClinGen TOPMed
rs377755323 CA3451909	366	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451910 rs377755323	366	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782746068 CA3451912	367	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1554163888 CA361321758	367	V>I		No	ClinGen gnomAD
CA3451914 rs782061977	368	I>L		No	ClinGen ExAC gnomAD
rs1554163904 CA361321800	368	I>S		No	ClinGen gnomAD
rs1174096449 CA361321826	369	A>V		No	ClinGen TOPMed
CA361321858 rs1554163914	371	I>M		No	ClinGen gnomAD
CA361321867 rs911086777	372	S>G		No	ClinGen TOPMed
rs911086777 CA128378907	372	S>R		No	ClinGen TOPMed
CA361321891 rs1188426625	372	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554163925 CA361321903	373	V>A		No	ClinGen gnomAD
rs1554163925 CA361321900	373	V>E		No	ClinGen gnomAD
CA3451915 rs199741132	373	V>M	Variant assessed as Somatic; 0.0003695 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs942533344 CA128378911	374	S>T		No	ClinGen TOPMed gnomAD
CA3451917 rs781897836	376	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3451918 rs782759965	376	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1650280 COSM590028 rs781897836 CA3451916	376	R>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3451919 rs781847723	379	G>D		No	ClinGen ExAC
TCGA novel	379	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361322120 rs1554163936	380	V>D		No	ClinGen gnomAD
rs782478787 CA3451920	380	V>I		No	ClinGen ExAC gnomAD
CA361322180 rs1562640720	383	Q>E		No	ClinGen Ensembl
rs782545691 CA3451923	383	Q>H		No	ClinGen ExAC gnomAD
CA3451924 rs782678686	384	V>M		No	ClinGen ExAC gnomAD
CA361322234 rs1554163963	385	T>I		No	ClinGen gnomAD
CA3451925 rs782261095	386	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1581940012 CA361322281	387	S>L		No	ClinGen Ensembl
rs782376161 CA3451926	388	L>V		No	ClinGen ExAC gnomAD
CA361322362 rs1554163984	391	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs367959983 CA3451928	392	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA361322407 rs1384752166	393	P>L		No	ClinGen TOPMed
rs1315531348 CA361322442	394	F>L		No	ClinGen TOPMed
rs782159013 CA3451931	397	V>M		No	ClinGen ExAC
rs1037957284 CA128378934	398	S>A		No	ClinGen TOPMed
CA3451932 rs782782375	398	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3451933 rs62622798	399	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782099481 CA3451934	400	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs782752756 CA3451935	401	K>Q		No	ClinGen ExAC gnomAD
rs201733980 CA3451936	401	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361322679 CA361322677 rs1423582702	403	Y>*		No	ClinGen TOPMed gnomAD
CA361322658 rs1184662924	403	Y>H		No	ClinGen TOPMed
rs143855054 CA3451937	403	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
CA361322725 rs1253656655	404	Y>S		No	ClinGen TOPMed
CA3451938 rs782216904	405	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1178506832 CA361322736	405	S>P		No	ClinGen TOPMed gnomAD
CA3451939 rs782216904	405	S>W		No	ClinGen ExAC TOPMed gnomAD
CA361322763 rs1554164064	406	L>F		No	ClinGen gnomAD
CA3451941 rs782623881	406	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361322767 rs1554164069	407	V>M		No	ClinGen gnomAD
rs189730532 CA3451942	409	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs180868237 CA361322920	411	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451946 rs180868237	411	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA361323052 rs375366430	414	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA128378960 rs375366430	414	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs782661960 CA3451949	414	R>H		No	ClinGen ExAC gnomAD
CA3451948 COSM3409847 rs375366430 COSM3409846	414	R>S	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA361323107 rs1310856864	415	E>G		No	ClinGen TOPMed
rs782365260 CA3451951	415	E>Q		No	ClinGen ExAC gnomAD
rs1554164130 CA361323167	416	N>D		No	ClinGen gnomAD
CA128378972 rs958022470	416	N>K		No	ClinGen gnomAD
CA3451953 rs200002785	416	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3451956 rs782038424	417	V>A		No	ClinGen ExAC gnomAD
rs782072957 CA3451955	417	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782072957 CA3451954 COSM1541920	417	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs17119218 VAR_048539 CA3451957	418	W>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201159213 CA3451958	419	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361323250 rs201159213	419	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451959 rs781862161	419	A>V		No	ClinGen ExAC TOPMed gnomAD
rs148608291 CA3451961	421	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1419353241 CA361323381	423	V>A		No	ClinGen TOPMed gnomAD
CA3451963 rs782448077	424	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	425	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451965 rs369162861	426	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451966 COSM3702725 rs373356425 COSM3702724	426	A>V	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs782627889 CA3451967	427	R>G		No	ClinGen ExAC TOPMed gnomAD
CA361323552 rs1209102528	428	D>G		No	ClinGen TOPMed
CA3451968 rs548890657	428	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1262225558 CA361323573	429	G>E		No	ClinGen TOPMed
CA361323566 rs1487402100	429	G>R		No	ClinGen TOPMed
rs1581951025 CA361323592	430	G>C		No	ClinGen Ensembl
rs1330154432 CA361323594	430	G>D		No	ClinGen TOPMed
rs1554164197 CA361323623	431	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554164199 CA361323648	432	P>S		No	ClinGen gnomAD
rs78902732 CA128379027	435	W>*		No	ClinGen Ensembl
CA361323728 rs1554164208	435	W>G		No	ClinGen gnomAD
CA128379029 rs77838799	436	A>D		No	ClinGen Ensembl
CA3451972 rs200037363	437	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3451973 rs200037363	437	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	438	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451975 CA3451976 rs371557347	439	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA
rs782065685 CA361323869	440	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3451977 rs782065685	440	V>L		No	ClinGen ExAC TOPMed gnomAD
rs531014522 CA361323923	441	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782689834 CA3451978	441	S>P		No	ClinGen ExAC gnomAD
rs531014522 CA3451979	441	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451981 rs782773036	443	E>*		No	ClinGen ExAC TOPMed gnomAD
rs368823990 CA361323974	443	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451983 rs782478068	445	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1554164263 CA361324027	445	A>V		No	ClinGen gnomAD
rs374343977 CA361324033	446	D>H		No	ClinGen ESP ExAC gnomAD
CA3451985 rs374343977	446	D>N		No	ClinGen ESP ExAC gnomAD
rs374343977 CA3451986	446	D>Y		No	ClinGen ESP ExAC gnomAD
rs1207012137 CA361324080	447	V>G		No	ClinGen TOPMed
CA361324052 rs1562644426	447	V>M		No	ClinGen Ensembl
TCGA novel	448	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	449	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451987 rs782659070	450	N>H		No	ClinGen ExAC gnomAD
rs782258990 CA361324154	450	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3451989 rs782508076	451	A>T		No	ClinGen ExAC gnomAD
rs782622577 COSM3786855 COSM3786854 CA3451990	451	A>V	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1554164294 CA361324213	453	A>E		No	ClinGen gnomAD
CA3451994 rs782290244	456	Q>H		No	ClinGen ExAC gnomAD
CA3451995 rs782403878	457	P>A		No	ClinGen ExAC gnomAD
rs1232580918 CA361324324	457	P>R		No	ClinGen TOPMed
CA361324331 rs1554164304	458	E>K		No	ClinGen gnomAD
rs782114058 CA3451997	459	Y>H		No	ClinGen ExAC gnomAD
CA361324411 rs1329928274	460	T>A		No	ClinGen TOPMed
CA361324418 rs1298357431	460	T>N		No	ClinGen TOPMed
rs1329928274 CA361324408	460	T>P		No	ClinGen TOPMed
CA361324462 rs1388283363	461	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	461	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452002 rs781889223	463	V>A		No	ClinGen ExAC gnomAD
CA3452001 rs372818492	463	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782514435 CA3452003	464	K>*		No	ClinGen ExAC gnomAD
CA3452004 rs782779572	464	K>R		No	ClinGen ExAC gnomAD
CA361324579 rs1562645434	466	N>I		No	ClinGen Ensembl
rs781840750 CA3452005	467	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3452006 rs782464928	467	N>K		No	ClinGen ExAC gnomAD
rs1581959991 CA361324605	467	N>T		No	ClinGen Ensembl
CA361324657 rs1554164342	470	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782552456 CA3452009	470	G>C		No	ClinGen ExAC gnomAD
CA3452010 rs568100247	471	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361324668 rs1554164347	471	C>R		No	ClinGen gnomAD
rs1476746131 CA361324670	471	C>Y		No	ClinGen TOPMed gnomAD
rs199940622 CA3452011	472	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782364094 CA361324703	473	I>N		No	ClinGen ExAC TOPMed gnomAD
rs782364094 CA3452012	473	I>S		No	ClinGen ExAC TOPMed gnomAD
CA361324701 rs1581961596	473	I>V		No	ClinGen Ensembl
rs1554164360 CA361324725	474	F>S		No	ClinGen gnomAD
rs1185177447 CA361324783	477	S>*		No	ClinGen TOPMed
CA361324785 rs1185177447	477	S>L		No	ClinGen TOPMed
TCGA novel	478	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279597936 CA361324799	478	A>P		No	ClinGen TOPMed
CA3452015 rs782205013	478	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3452018 rs367673976	479	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs367673976 CA3452019	479	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs539269989 CA3452017	479	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA3452020 rs781984897	480	D>V		No	ClinGen ExAC gnomAD
CA128379099 rs1029944968	481	A>V		No	ClinGen TOPMed gnomAD
CA3452021 rs373404464	482	D>G		No	ClinGen ESP ExAC gnomAD
CA361324926 rs1554164401	483	A>G		No	ClinGen gnomAD
CA361324915 rs371515299	483	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452022 rs371515299	483	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1261237 CA3452023 rs371515299	483	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	484	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361324945 rs1554164402	484	Q>R		No	ClinGen gnomAD
CA361324967 rs1554164412	485	E>G		No	ClinGen gnomAD
rs782048917 CA3452024	485	E>K		No	ClinGen ExAC TOPMed gnomAD
rs544569992 COSM1186852 CA3452025	486	N>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1333019449 CA361325019	487	A>G		No	ClinGen TOPMed gnomAD
rs1554164416 CA361325013	487	A>S		No	ClinGen gnomAD
rs1554164425 CA361325034	488	L>P		No	ClinGen gnomAD
rs1554164428 CA361325046	489	V>L		No	ClinGen gnomAD
CA3452030 rs782477275	490	S>F		No	ClinGen ExAC gnomAD
TCGA novel	491	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429082420 CA361325082	491	Y>H		No	ClinGen TOPMed
CA361325148 rs782563992	494	V>A		No	ClinGen ExAC gnomAD
CA3452031 rs782563992	494	V>E		No	ClinGen ExAC gnomAD
rs1185262788 CA361325166	495	E>V		No	ClinGen TOPMed
CA361325190 rs1238282556	496	R>Q		No	ClinGen TOPMed
rs1445004841 CA361325188	496	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA128379107 rs991131905	497	R>L		No	ClinGen TOPMed gnomAD
rs991131905 CA361325217	497	R>P		No	ClinGen TOPMed gnomAD
CA361325207 rs991131905 COSM1647779 COSM736158	497	R>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM3783859 rs202164332 CA3452032 COSM3783858	497	R>W	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3452034 rs573002634	498	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1273087028 CA361325232	499	G>S		No	ClinGen TOPMed gnomAD
CA3452035 rs782250124	500	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1554164453 CA361325244	500	D>N		No	ClinGen gnomAD
rs376574285 CA361325281	501	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1445292626 COSM1434014 CA361325286	501	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs376574285 CA3452036	501	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1408684171 CA361325305	502	A>G		No	ClinGen TOPMed
rs782060261 CA3452038	502	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	502	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	503	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452039 rs782305059	504	S>*		No	ClinGen ExAC gnomAD
rs1562647895 CA361325335	504	S>P		No	ClinGen Ensembl
CA3452041 rs369764178	507	V>G		No	ClinGen ESP ExAC gnomAD
rs377101052 CA361325402	507	V>L		No	ClinGen ESP ExAC gnomAD
rs377101052 CA3452040 COSM1219543	507	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA3452042 rs782773688	508	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3452043 rs782773688	508	S>W		No	ClinGen ExAC TOPMed gnomAD
CA361325441 rs1554164498	510	H>D		No	ClinGen gnomAD
CA3452045 rs782716769	511	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361325469 rs1365729454	511	A>V		No	ClinGen TOPMed
CA361325492 rs1183077255	512	E>D		No	ClinGen TOPMed
CA3452046 rs373909591	513	S>R		No	ClinGen ESP ExAC gnomAD
rs782549928 CA3452047	514	G>C		No	ClinGen ExAC TOPMed gnomAD
rs782672271 CA3452048	514	G>D		No	ClinGen ExAC gnomAD
rs782549928 CA361325509	514	G>R		No	ClinGen ExAC TOPMed gnomAD
CA361325550 rs533111347	516	V>L		No	ClinGen TOPMed
rs533111347 CA128379119	516	V>M		No	ClinGen TOPMed
rs1225314899 CA361325564	517	Y>C		No	ClinGen TOPMed
CA361325572 rs1554164527	518	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782506518 CA3452050	518	A>V		No	ClinGen ExAC gnomAD
CA3452053 rs782328974	521	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782353440 CA3452059	523	D>A		No	ClinGen ExAC gnomAD
rs782000668 CA3452057	523	D>H		No	ClinGen ExAC TOPMed gnomAD
rs782000668 CA3452058	523	D>N		No	ClinGen ExAC TOPMed gnomAD
rs893862947 CA128379131	524	H>R		No	ClinGen TOPMed gnomAD
CA361325642 rs1554164562	524	H>Y		No	ClinGen gnomAD
CA361325659 TCGA novel rs1304914174	525	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs561705674 CA3452060	525	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452061 rs561705674	525	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202117527 CA3452062	526	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361325684 rs1554164590	528	E>K		No	ClinGen gnomAD
rs1349209235 CA361325703	529	L>R		No	ClinGen TOPMed
CA361325713 rs1321391908	530	L>P		No	ClinGen TOPMed
CA3452065 rs782770549	534	V>A		No	ClinGen ExAC gnomAD
CA361325766 rs782770549	534	V>G		No	ClinGen ExAC gnomAD
CA128379141 rs899824906	534	V>L		No	ClinGen TOPMed
CA361325759 rs899824906	534	V>M		No	ClinGen TOPMed
rs781841032 CA3452066 CA361325774	535	S>R		No	ClinGen ExAC TOPMed gnomAD
rs782475792 CA3452067	536	A>S		No	ClinGen ExAC gnomAD
rs782475792 COSM3409848 COSM3409849 CA361325775	536	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3452068 rs782716335	536	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3452070 rs201937079	538	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1554164627 CA361325799	538	D>Y		No	ClinGen gnomAD
CA361325816 rs782257127	539	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3452072 rs782257127	539	A>G		No	ClinGen ExAC TOPMed gnomAD
CA361325831 rs1554164638	540	G>A		No	ClinGen gnomAD
CA361325833 rs1554164638	540	G>D		No	ClinGen gnomAD
rs140203389 CA3452074	541	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140203389 CA3452075	541	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs531202250 CA3452077	542	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452078 rs531202250	542	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	542	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452081 rs782095287	543	P>L		No	ClinGen ExAC gnomAD
CA361325855 rs782095287	543	P>R		No	ClinGen ExAC gnomAD
rs782055886 CA3452084	544	L>Q		No	ClinGen ExAC gnomAD
rs1581980988 CA361325861	544	L>V		No	ClinGen Ensembl
rs201357017 COSM1541917 CA3452085	545	S>G	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	545	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374520361 CA3452086	547	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452089 rs781831995	548	V>A		No	ClinGen ExAC gnomAD
CA361325906 COSM1541916 CA3452087 rs369212308	548	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs369212308 CA3452088	548	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452090 rs782462608	549	T>A		No	ClinGen ExAC
rs1321490350 CA361325949	552	V>E		No	ClinGen TOPMed gnomAD
CA361325960 rs1456957620	553	F>S		No	ClinGen TOPMed
CA361325968 rs1386684596 CA361325967	554	V>L		No	ClinGen TOPMed
rs190430267 CA3452091	555	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370490786 CA361325997 CA361325996	556	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA361325985 rs1554164692	556	D>H		No	ClinGen gnomAD
CA361326005 rs1554164699	557	E>A		No	ClinGen gnomAD
CA3452093 rs782539037	557	E>D		No	ClinGen ExAC TOPMed
CA3452095 rs782661485	558	N>D		No	ClinGen ExAC gnomAD
CA3452099 rs374163229	561	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs374163229 CA3452098	561	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	561	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361326065 rs782319322	562	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782319322 CA3452101	562	P>Q		No	ClinGen ExAC gnomAD
CA3452100 rs782200395	562	P>S		No	ClinGen ExAC gnomAD
CA361326076 rs1581985607	563	A>V		No	ClinGen Ensembl
rs1581985922 CA361326088	565	L>V		No	ClinGen Ensembl
rs1264615398 CA361326099	566	A>E		No	ClinGen TOPMed
rs1311031348 CA361326115	568	Q>E		No	ClinGen TOPMed
rs546684407 CA3452104	568	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs546684407 CA3452103	568	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs368477795 CA128379176	569	A>T		No	ClinGen ESP TOPMed gnomAD
TCGA novel	570	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782095168 CA3452106	572	A>P		No	ClinGen ExAC TOPMed gnomAD
CA128379186 rs372502721	572	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs782742871 CA3452107	573	G>E		No	ClinGen ExAC gnomAD
CA361326168 CA361326167 rs1554164732	573	G>R		No	ClinGen gnomAD
CA361326179 rs1296646483	574	G>D		No	ClinGen TOPMed
rs971082881 CA128379188	574	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3452108 rs781804523	575	A>S		No	ClinGen ExAC gnomAD
CA3452109 rs782048793	575	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782800341 CA3452110	577	N>S		No	ClinGen ExAC gnomAD
rs1304748663 CA361326219	578	K>*		No	ClinGen TOPMed gnomAD
rs1304748663 CA361326220	578	K>E		No	ClinGen TOPMed gnomAD
rs782610375 CA361326229	578	K>N		No	ClinGen ExAC TOPMed gnomAD
rs375475405 CA3452112	578	K>R		No	ClinGen ESP ExAC gnomAD
rs1358609489 CA361326235	579	L>P		No	ClinGen TOPMed gnomAD
rs781830221 CA3452114	580	V>G		No	ClinGen ExAC gnomAD
CA3452115 rs782454963	581	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	582	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368769297 CA3452116	582	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562652583 CA361326273	583	S>W		No	ClinGen Ensembl
CA361326276 rs1554164757	584	V>L		No	ClinGen gnomAD
CA128379206 rs928223797	585	G>V		No	ClinGen Ensembl
CA3452118 rs782404408	586	A>E		No	ClinGen ExAC gnomAD
TCGA novel	586	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452122 rs371526005	589	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452121 rs550915753 CA128379220	589	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361326333 rs1257856778	590	V>L		No	ClinGen TOPMed
CA361326330 rs1257856778	590	V>M		No	ClinGen TOPMed
CA361326346 rs1235290760	591	A>E		No	ClinGen TOPMed gnomAD
CA361326349 rs1235290760	591	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3452125 rs782030647	593	V>A		No	ClinGen ExAC gnomAD
CA3452124 rs782304708	593	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376620715 CA3452127	594	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3452128 rs376620715	594	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452126 rs782137761	594	R>S		No	ClinGen ExAC gnomAD
CA3452131 rs17844350	595	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17844350 CA361326382	595	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs946837071 CA128379234	598	A>E		No	ClinGen Ensembl
rs781950776 CA3452133	599	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	600	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554164810 CA361326453	601	G>S		No	ClinGen gnomAD
rs782609021 CA361326485	603	N>S		No	ClinGen ExAC TOPMed
rs782609021 CA3452136	603	N>T		No	ClinGen ExAC TOPMed
rs369740429 CA128379250	604	A>E		No	ClinGen ESP
rs933995054 CA128379249	604	A>P		No	ClinGen gnomAD
COSM3768175 rs1562653740 COSM3768176 CA361326517	606	L>F	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3452137 rs782215482	606	L>R		No	ClinGen ExAC TOPMed gnomAD
CA361326541 rs782446287 CA3452138	608	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA361326540 rs1411739835	608	Y>C		No	ClinGen TOPMed gnomAD
rs1554164841 CA361326534	608	Y>H		No	ClinGen gnomAD
rs1554164841 CA361326532	608	Y>N		No	ClinGen gnomAD
rs373236202 CA128379257	609	E>D		No	ClinGen ESP TOPMed
CA128379254 rs1051468587	609	E>Q		No	ClinGen Ensembl
rs1428252254 CA361326558	610	L>*		No	ClinGen TOPMed gnomAD
rs1428252254 CA361326560	610	L>S		No	ClinGen TOPMed gnomAD
rs1562654104 CA361326587	612	P>R		No	ClinGen Ensembl
TCGA novel	612	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554164906 CA361326608	614	A>E		No	ClinGen gnomAD
CA361326603 rs1422918699	614	A>T		No	ClinGen TOPMed
CA361326631 rs1554164920	616	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782232980 CA3452144	617	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782342308 CA3452146	618	R>G		No	ClinGen ExAC gnomAD
COSM1434019 rs1554164932 CA361326671	618	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1554164932 CA361326677	618	R>L		No	ClinGen gnomAD
rs1554164932 CA361326674	618	R>P		No	ClinGen gnomAD
rs782342308 CA3452145	618	R>S		No	ClinGen ExAC gnomAD
rs1489353896 CA361326713	620	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1489353896 CA361326710	620	P>Q		No	ClinGen TOPMed gnomAD
rs1489353896 CA361326712	620	P>R		No	ClinGen TOPMed gnomAD
CA361326705 rs1554164938	620	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361326703 rs1554164938	620	P>T		No	ClinGen gnomAD
rs782808360 CA3452148	622	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3452149 COSM1434020 rs782023174	622	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	624	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554164952 CA361326767	624	G>W		No	ClinGen gnomAD
rs1554164955 CA361326823	627	T>M		No	ClinGen gnomAD
rs782714479 CA3452154	630	I>R		No	ClinGen ExAC gnomAD
rs782466247 CA3452153	630	I>V		No	ClinGen ExAC TOPMed gnomAD
rs781790601 CA3452155	632	T>R		No	ClinGen ExAC TOPMed gnomAD
rs782654281 CA3452157	634	R>G		No	ClinGen ExAC gnomAD
rs1554164969 CA361326966	635	A>V		No	ClinGen gnomAD
CA361327000 rs1554164974	637	D>E		No	ClinGen gnomAD
rs1554164977 CA361327008	638	E>*		No	ClinGen gnomAD
rs1554164977 CA361327003	638	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452159 rs782482530	641	S>A		No	ClinGen ExAC
rs375716587 CA3452160	641	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452161 rs782198197	642	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3452162 rs782198197	642	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554164992 CA361327072	642	P>S		No	ClinGen gnomAD
rs543880939 CA3452164	643	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201299652 CA3452165	644	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA361327125 rs201299652	644	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452166 rs781977409	645	R>G		No	ClinGen ExAC TOPMed gnomAD
CA128379294 rs763700203	647	L>Q		No	ClinGen Ensembl
TCGA novel	649	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361327266 rs1472650820	649	L>V		No	ClinGen TOPMed gnomAD
CA128379297 rs981101486	650	V>A		No	ClinGen TOPMed gnomAD
CA3452168 rs782721683	651	K>M		No	ClinGen ExAC gnomAD
rs1179361194 CA361327335	652	D>A		No	ClinGen TOPMed gnomAD
CA3452169 rs781936875	652	D>E		No	ClinGen ExAC gnomAD
CA361327318 rs1554165044	652	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782751973 CA128379309	653	H>Y		No	ClinGen Ensembl
CA3452171 rs377081112	654	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452172 rs369373152	654	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452170 rs377081112	654	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554165067 CA361327386	655	E>K		No	ClinGen gnomAD
COSM1310666 COSM3827020 CA3452174 rs782499527	656	P>L	Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3452175 rs782763189	657	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1062326 rs1330055406 CA361327553	661	T>M	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs782465793 CA3452179	663	T>A		No	ClinGen ExAC gnomAD
rs1554165105 CA361328519	664	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452181 rs202137231	667	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs202137231 CA3452182	667	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs202137231 CA361328633	667	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA361328654 rs1554165125	668	L>S		No	ClinGen gnomAD
rs1554165130 CA361328698	670	E>G		No	ClinGen gnomAD
rs1554165136 CA361328718	671	S>G		No	ClinGen Ensembl
CA3452185 rs200344692 CA361328731	671	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361328762 rs1554165149	672	G>A		No	ClinGen gnomAD
rs1554165154 CA361328784	673	Q>E		No	ClinGen gnomAD
CA361328806 rs1554165161	673	Q>R		No	ClinGen gnomAD
rs782035990 CA3452190	674	A>E		No	ClinGen ExAC TOPMed gnomAD
rs782312325 CA3452188	674	A>T		No	ClinGen ExAC gnomAD
rs782035990 CA3452189	674	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3452191 rs782389088	676	K>Q		No	ClinGen ExAC gnomAD
rs1156390839 CA361328913	677	A>D		No	ClinGen TOPMed gnomAD
CA3452193 rs782085001	679	S>F		No	ClinGen ExAC TOPMed
CA361329037 rs1249708738	681	T>I		No	ClinGen TOPMed
rs1554165205 CA361329005	681	T>S		No	ClinGen gnomAD
rs1554165206 CA361329056	682	L>F		No	ClinGen gnomAD
CA3452197 rs371368253	684	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs781880372 CA3452198	684	G>V		No	ClinGen ExAC gnomAD
rs200268029 CA361329124	685	A>P		No	ClinGen ExAC TOPMed gnomAD
rs200268029 COSM1062327 CA3452200 COSM1594832	685	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361329155 rs1554165222	686	A>G		No	ClinGen Ensembl
CA3452201 rs781816033	686	A>S		No	ClinGen ExAC
CA128379348 rs1044550712	688	P>T		No	ClinGen TOPMed gnomAD
rs782460096 CA3452203	691	A>E		No	ClinGen ExAC TOPMed gnomAD
CA361329387 rs782460096	691	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782405877 CA3452206	693	V>A		No	ClinGen ExAC gnomAD
CA361329435 rs782405877	693	V>G		No	ClinGen ExAC gnomAD
CA3452205 rs376198166	693	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452207 rs782647681	694	D>N		No	ClinGen ExAC gnomAD
TCGA novel	695	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776284157 CA128379371	695	V>I		No	ClinGen Ensembl
rs370303558 CA3452210	696	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA361329540 rs1554165248	696	N>S		No	ClinGen gnomAD
CA3452211 rs782048235	697	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1582019516 CA361329562	697	V>M		No	ClinGen Ensembl
rs782439866 CA3452213	698	Y>C		No	ClinGen ExAC
rs561860727 CA3452215	700	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554165267 CA361329698	701	I>T		No	ClinGen gnomAD
rs782698436 CA3452219	702	A>D		No	ClinGen ExAC gnomAD
CA3452218 rs376600715	702	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs781784103 CA3452220	703	I>N		No	ClinGen ExAC TOPMed gnomAD
rs781784103 CA361329742	703	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3452222 rs782807102	705	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA128379397 rs1009797322	707	S>C		No	ClinGen Ensembl
rs1009797322 CA361329886	707	S>F		No	ClinGen Ensembl
rs371096811 CA128379398	710	L>M		No	ClinGen ESP TOPMed
COSM1647778 CA361329990 rs1554165295 COSM736157	711	V>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3452223 rs781865422	712	L>F		No	ClinGen ExAC gnomAD
rs200192228 CA3452224	712	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452225 rs782602807	713	T>R		No	ClinGen ExAC gnomAD
rs1246479266 CA361330079	714	L>V		No	ClinGen TOPMed
rs1340682715 CA361330140	715	L>P		No	ClinGen TOPMed
rs782675743 CA3452228	716	L>M		No	ClinGen ExAC gnomAD
rs1412384009 CA361330168	716	L>R		No	ClinGen TOPMed gnomAD
rs1372338399 CA361330259	717	Y>C		No	ClinGen TOPMed
rs782280300 CA3452229	717	Y>N		No	ClinGen ExAC gnomAD
CA3452230 rs201468806	718	T>A		No	ClinGen ExAC gnomAD
rs781990448 CA3452231	718	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361330355 rs1554165338	719	A>V		No	ClinGen gnomAD
rs1554165343 CA361330381	721	W>R		No	ClinGen gnomAD
rs782046462 CA3452235	722	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782046462 CA361330439	722	W>C		No	ClinGen ExAC gnomAD
rs368729446 CA3452234	722	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361330472 rs1369255733	723	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554165360 CA361330510	724	A>V		No	ClinGen gnomAD
CA361330519 COSM1434023 rs1187011496 COSM3381124	725	T>M	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3452238 COSM3768178 rs782125497 COSM3768177	727	T>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA3452239 rs782751803	728	E>D		No	ClinGen ExAC gnomAD
rs955449203 CA128379430	729	G>D		No	ClinGen Ensembl
CA361330655 rs1254609310	729	G>S		No	ClinGen TOPMed
rs868973619 CA361330732	731	C>Y		No	ClinGen Ensembl
rs781824958 CA361330751	732	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781824958 CA3452241	732	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA128379433 rs987284077 COSM3381126 COSM3381125	732	A>V	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs781904724 CA3452244	733	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1562661811 CA361330772	733	P>S		No	ClinGen Ensembl
CA3452245 rs764735564	734	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1562661921 CA361330814	734	G>R		No	ClinGen Ensembl
CA3452247 rs782244596	735	K>*		No	ClinGen ExAC gnomAD
CA361330837 rs1230939402	735	K>R		No	ClinGen TOPMed
rs1554165416 CA361330857	736	P>A		No	ClinGen gnomAD
rs371295919 CA3452250	737	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA128379454 rs908582761	738	L>M		No	ClinGen Ensembl
CA361330940 rs782385310	739	V>A		No	ClinGen ExAC gnomAD
CA3452254 rs782385310	739	V>E		No	ClinGen ExAC gnomAD
rs546803828 CA3452253	739	V>M		No	ClinGen ExAC TOPMed gnomAD
CA361330997 rs1554165430	741	S>A		No	ClinGen gnomAD
CA3452255 rs781982422	741	S>F		No	ClinGen ExAC TOPMed gnomAD
CA361331043 rs782093100	742	R>C		No	ClinGen ExAC gnomAD
CA3452256 rs782093100	742	R>G		No	ClinGen ExAC gnomAD
COSM1567424 rs374687707 COSM3776293 CA361331045	742	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3452257 rs374687707	742	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1414219251 CA361331086	743	A>E		No	ClinGen TOPMed
rs939986849 CA128379468	743	A>S		No	ClinGen TOPMed gnomAD
CA361331114 rs1554165439	744	V>G		No	ClinGen gnomAD
rs367685277 CA128379471	745	G>R		No	ClinGen ESP TOPMed gnomAD
rs782701070 CA128379474	747	W>*		No	ClinGen Ensembl
rs533115257 CA128379477	747	W>*		No	ClinGen 1000Genomes
CA3452258 rs371820170	748	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361331249 rs782168219	749	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	750	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452262 rs201435940	752	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554165481 CA361331429	753	R>T		No	ClinGen gnomAD
rs782743533 CA3452263	754	R>G		No	ClinGen ExAC gnomAD
CA3452265 rs113722940	754	R>L		No	ClinGen ExAC TOPMed gnomAD
rs113722940 CA3452264	754	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA361331453 rs1330737642	755	Q>P		No	ClinGen TOPMed
TCGA novel	756	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554165505 CA361331514	757	V>G		No	ClinGen gnomAD
rs1554165497 CA361331504	757	V>L		No	ClinGen gnomAD
rs1582036090 CA361331520	758	C>G		No	ClinGen Ensembl
TCGA novel	758	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782564746 CA3452267	759	S>F		No	ClinGen ExAC TOPMed gnomAD
rs200820570 CA3452269	760	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781900960 CA3452268	760	E>G		No	ClinGen ExAC gnomAD
CA361331604 rs1436945902	761	E>G		No	ClinGen TOPMed
CA361331620 rs372339362	762	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452271 rs372339362	762	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452272 rs782354799	764	P>A		No	ClinGen ExAC TOPMed gnomAD
rs782179742 CA3452274	764	P>R		No	ClinGen ExAC gnomAD
CA3452273 rs782354799	764	P>S		No	ClinGen ExAC TOPMed gnomAD
rs880003672 CA361331658	765	K>E		No	ClinGen Ensembl
rs1391072786 CA361331673	765	K>N		No	ClinGen TOPMed
COSM3429002 rs146613275 COSM3429003 CA361331680	766	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146613275 CA3452275	766	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361331727 rs1554165555	768	L>F		No	ClinGen gnomAD
rs1406444669 CA361331731	768	L>P		No	ClinGen TOPMed
rs1053262394 CA128379512	769	M>L		No	ClinGen Ensembl
CA128379515 rs891491030	770	A>V		No	ClinGen Ensembl
CA361331818 rs1554165566	772	S>R		No	ClinGen gnomAD
rs1193380487 CA361331826	773	P>A		No	ClinGen TOPMed
CA3452276 rs782021225	774	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361331861 rs1554165586	775	L>F		No	ClinGen gnomAD
rs782140666 CA3452277	775	L>P		No	ClinGen ExAC gnomAD
CA361331941 rs1246532449	779	L>V		No	ClinGen TOPMed
CA361331998 rs1554165605	781	K>N		No	ClinGen gnomAD
rs782085925 CA3452280	781	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	781	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452281 rs782722272	782	E>D		No	ClinGen ExAC TOPMed gnomAD
rs781785142 CA361332026	783	E>K		No	ClinGen ExAC TOPMed gnomAD
rs781785142 CA3452282	783	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA361332053 rs1554165628	784	E>K		No	ClinGen Ensembl
CA361332090 rs1562665046	785	G>E		No	ClinGen Ensembl
CA361332083 rs782153529 CA3452284	785	G>R		No	ClinGen ExAC TOPMed gnomAD
rs782153529 CA3452283	785	G>W		No	ClinGen ExAC TOPMed gnomAD
rs781872546 CA3452286	786	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782500075 CA3452287	788	Q>*		No	ClinGen ExAC gnomAD
rs781821721 CA3452289	789	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	795	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361332328 rs1554165674	795	P>L		No	ClinGen gnomAD
rs1554165680 CA361332347	796	G>E		No	ClinGen gnomAD
CA361332341 CA3452292 COSM1165504 rs782277615	796	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782396000 CA3452293	797	Q>E		No	ClinGen ExAC gnomAD
CA361332371 rs968230550	797	Q>P		No	ClinGen TOPMed
rs968230550 CA128379552	797	Q>R		No	ClinGen TOPMed
rs782073950 CA3454452	798	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	798	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	799	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	799	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	799	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	804	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	805	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	805	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	806	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	809	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	810	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	811	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	812	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	813	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	814	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	815	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	816	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	817	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	818	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	818	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	818	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	819	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	820	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	820	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	822	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	822	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	823	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	824	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	825	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	826	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	828	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	828	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	830	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	831	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	833	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	835	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	835	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	837	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	838	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	839	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	839	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	840	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	841	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	843	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	843	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	843	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	843	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	845	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	846	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	846	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	846	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	846	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	847	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	850	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	852	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	858	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	859	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	861	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	861	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	865	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	871	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	871	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	873	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	875	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	876	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	878	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	879	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	879	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	880	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	881	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	885	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	885	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	886	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	889	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	890	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	891	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	895	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	895	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	895	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	896	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	898	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	899	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	899	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	900	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	902	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	902	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	903	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	904	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	905	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	907	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	907	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	908	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	908	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	908	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	909	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	912	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	914	T>I		No	ClinGen ExAC
rs782274123 CA3454571	915	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	916	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	918	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	918	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	919	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	920	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	921	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	922	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	922	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	927	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	928	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	929	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	929	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	932	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	932	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	935	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	937	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	940	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	941	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	941	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	941	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	942	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	942	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	943	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	944	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	945	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	946	N>Y		No	ClinGen TOPMed

No associated diseases with Q9Y5I1

10 regional properties for Q9Y5I1

Type	Name	Position	InterPro Accession
domain	Cadherin-like	28 - 133	IPR002126-1
domain	Cadherin-like	142 - 242	IPR002126-2
domain	Cadherin-like	242 - 349	IPR002126-3
domain	Cadherin-like	350 - 564	IPR002126-4
domain	Cadherin-like	580 - 677	IPR002126-5
domain	Cadherin, N-terminal	30 - 111	IPR013164
conserved_site	Cadherin conserved site	230 - 240	IPR020894-1
conserved_site	Cadherin conserved site	442 - 452	IPR020894-2
conserved_site	Cadherin conserved site	552 - 562	IPR020894-3
domain	Cadherin, C-terminal catenin-binding domain	799 - 932	IPR031904

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.

46 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
Q5DRE4	PCDHA8	Protocadherin alpha-8	Pan troglodytes (Chimpanzee)	PR
Q5DRE6	PCDHA6	Protocadherin alpha-6	Pan troglodytes (Chimpanzee)	PR
Q5DRF0	PCDHA2	Protocadherin alpha-2	Pan troglodytes (Chimpanzee)	PR
Q5DRE7	PCDHA5	Protocadherin alpha-5	Pan troglodytes (Chimpanzee)	PR
Q5DRF3	PCDHA11	Protocadherin alpha-11	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
Q9Y5H7	PCDHA5	Protocadherin alpha-5	Homo sapiens (Human)	PR
Q9UN73	PCDHA6	Protocadherin alpha-6	Homo sapiens (Human)	PR
Q9Y5H6	PCDHA8	Protocadherin alpha-8	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
MFGFQRRGLG	TPRLQLWLLL	LEFWEVGSGQ	LHYSVSEEAK	HGTFVGRIAQ	DLGLELAELV
70	80	90	100	110	120
QRLFRVASKT	HGDLLEVNLQ	NGILFVNSRI	DREELCGQSA	ECSIHLEVIV	DRPLQVFHVN
130	140	150	160	170	180
VEVKDINDNP	PVFSLREQKL	LIAESKQSDS	RFPLEGASDA	DIEENALLTY	RLSKNEYFSL
190	200	210	220	230	240
DSPTNGKQIK	RLSLILKKSL	DREKTPELNL	LLTATDGGKP	ELTGTVRLLV	QVLDVNDNDP
250	260	270	280	290	300
EFDKSEYKVS	LMENAAKETL	VLKLNATDRD	EGVNGEVTYS	LMSIKPNGRH	LFTLDQNNGE
310	320	330	340	350	360
VRVNGTLDYE	ENKFYKIEVQ	ATDKGTPPMA	GHCTVWVEIL	DTNDNSPEVA	VTSLSLPVRE
370	380	390	400	410	420
DAQPSTVIAL	ISVSDRDSGV	NGQVTCSLTP	HVPFKLVSTF	KNYYSLVLDS	ALDRENVWAY
430	440	450	460	470	480
ELVVTARDGG	SPSLWATARV	SVEVADVNDN	APAFAQPEYT	VFVKENNPPG	CHIFTVSARD
490	500	510	520	530	540
ADAQENALVS	YSLVERRLGD	RALSSYVSVH	AESGKVYALQ	PLDHEELELL	QFQVSARDAG
550	560	570	580	590	600
VPPLSSNVTL	QVFVLDENDN	APALLATQAG	SAGGAVNKLV	PRSVGAGHVV	AKVRAVDADS
610	620	630	640	650	660
GYNAWLSYEL	QPAAGGSRIP	FRVGLYTGEI	STTRALDEAD	SPRHRLLVLV	KDHGEPALTA
670	680	690	700	710	720
TATVLVSLVE	SGQAPKASSR	TLAGAASPEA	ALVDVNVYLI	IAICVVSSLL	VLTLLLYTAL
730	740	750	760	770	780
WWSATPTEGA	CAPGKPTLVC	SRAVGSWSYS	QQRRQRVCSE	EGPPKTDLMA	FSPSLPLGLN
790	800	810	820	830	840
KEEEGERQEP	GSNHPGQPRQ	PNPDWRYSAS	LRAGMHSSVH	LEEAGILRAG	PGGPDQQWPT
850	860	870	880	890	900
VSSATPEPEA	GEVSPPVGAG	VNSNSWTFKY	GPGNPKQSGP	GELPDKFIIP	GSPAIISIRQ
910	920	930	940
EPTNSQIDKS	DFITFGKKEE	TKKKKKKKKG	NKTQEKKEKG	NSTTDNSDQ