AiPD: Autoinhibited Protein Database

Q9UN72

Gene name	PCDHA7
Protein name	Protocadherin alpha-7
Names	PCDH-alpha-7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56141
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

845-924 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

845-924 (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 Q9UN72

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UN72-F1	Predicted				AlphaFoldDB

1011 variants for Q9UN72

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508600 CA3454461 rs150254638	794	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs141534918 CA361238759	2	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141534918 CA3448765	2	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448767 rs782266147	4	P>Q		No	ClinGen ExAC
CA3448769 rs17844304	7	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560186709 CA3448768	7	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs560186709 CA361238864	7	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
CA3448770 rs782278654	8	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369857656 CA3448772	9	P>L		No	ClinGen ESP ExAC TOPMed
CA3448771 rs369857656	9	P>R		No	ClinGen ESP ExAC TOPMed
rs1422955156 CA361238892	9	P>T		No	ClinGen TOPMed gnomAD
CA361238915 rs542640548	10	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3448773 rs542640548	10	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA361238940 rs1248577104	12	R>Q		No	ClinGen TOPMed gnomAD
CA128354581 rs376771030	14	L>P		No	ClinGen Ensembl
rs1554134171 CA361238984	15	L>M		No	ClinGen gnomAD
rs1554134174 CA361238999	15	L>P		No	ClinGen gnomAD
CA3448777 rs782806156	17	F>I		No	ClinGen ExAC gnomAD
CA128354592 rs146171114	17	F>L		No	ClinGen ESP TOPMed gnomAD
CA361239032 rs1554134187	17	F>S		No	ClinGen gnomAD
rs781815301 CA3448778	18	I>F		No	ClinGen ExAC gnomAD
rs781815301 CA361239042	18	I>L		No	ClinGen ExAC gnomAD
TCGA novel	18	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554134200 CA361239058	19	I>L		No	ClinGen gnomAD
CA361239072 rs1554134207	19	I>M		No	ClinGen gnomAD
rs1554134200 CA361239060	19	I>V		No	ClinGen gnomAD
CA3448779 rs139246881	21	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562336302 CA361239112	22	A>E		No	ClinGen Ensembl
TCGA novel	23	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554134220 CA361239128	23	A>V		No	ClinGen gnomAD
CA361239147 rs1554134225	24	W>*		No	ClinGen gnomAD
CA361239154 rs1554134227	25	E>K		No	ClinGen gnomAD
rs561276243 CA128354622	25	E>V		No	ClinGen 1000Genomes gnomAD
rs202125503 CA3448782	26	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3448781 rs781826495	26	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361239184 rs202125503	26	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361239214 rs1238997313	28	R>T		No	ClinGen TOPMed
rs1350848206 CA361239228	29	G>C		No	ClinGen TOPMed gnomAD
CA361239265 rs1554134247	31	L>F		No	ClinGen gnomAD
CA361239303 rs1554134254	32	H>R		No	ClinGen gnomAD
rs1554134251 CA361239298	32	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782538708 CA3448785	33	Y>S		No	ClinGen ExAC gnomAD
CA3448787 rs782177425	34	S>L		No	ClinGen ExAC gnomAD
rs1387248014 CA361239341	34	S>P		No	ClinGen TOPMed
CA128354651 rs141682483	36	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA361239478 rs1554134283	39	A>T		No	ClinGen gnomAD
rs532311058 CA3448794	40	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA361239559 rs1419397208	41	H>R		No	ClinGen TOPMed
rs781981562 CA3448795	41	H>Y		No	ClinGen ExAC gnomAD
CA3448797 rs139562115	42	G>S		No	ClinGen ESP ExAC TOPMed
rs781858636 CA3448798	43	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361239629 rs1433865569 CA361239628	45	V>L		No	ClinGen TOPMed gnomAD
rs1433865569 CA361239627	45	V>M		No	ClinGen TOPMed gnomAD
CA3448799 rs200308248	47	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1061911 rs1554134295 CA361239697	49	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361239721 COSM371544 rs1554134298	49	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1554134303 CA361239778	51	D>Y		No	ClinGen gnomAD
CA3448800 rs782798231	53	G>R		No	ClinGen ExAC gnomAD
CA361239823 rs1580783721	54	L>M		No	ClinGen Ensembl
rs1264423031 CA361239874	55	E>D		No	ClinGen TOPMed gnomAD
CA361239885 rs782435489	56	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1554134312 CA361239891	57	A>T		No	ClinGen gnomAD
rs782615816 CA3448803	57	A>V		No	ClinGen ExAC gnomAD
rs781819172 CA3448804	58	E>G		No	ClinGen ExAC gnomAD
rs1554134319 CA361239930	59	L>V		No	ClinGen gnomAD
rs565756665 CA3448805	60	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3448807 rs376907347	61	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA361239963 rs376907347	61	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA361239965 rs376907347	61	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs782620267 CA3448806	61	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3448809 rs782575776	62	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361239983 rs782575776	62	R>L		No	ClinGen ExAC gnomAD
CA3448811 CA361240002 rs782349641	64	F>L		No	ClinGen ExAC gnomAD
TCGA novel	65	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554134334 CA361240018	65	R>Q		No	ClinGen gnomAD
rs1554134337 CA361240031	66	A>S		No	ClinGen gnomAD
CA3448812 COSM1219608 rs782011323	66	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782242416 CA361240051	67	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782242416 CA3448813	67	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1554134344 CA361240039	67	V>L		No	ClinGen gnomAD
rs1554134345 CA361240062	68	C>S		No	ClinGen gnomAD
CA361240073 rs1399605083	69	K>E		No	ClinGen TOPMed gnomAD
CA361240071 rs1399605083	69	K>Q		No	ClinGen TOPMed gnomAD
CA3448815 rs782018607	69	K>R		No	ClinGen ExAC gnomAD
rs1554134353 CA361240101	70	F>C		No	ClinGen gnomAD
rs1554134348 CA361240091	70	F>I		No	ClinGen gnomAD
rs1554134355 CA361240102	70	F>L		No	ClinGen gnomAD
rs1554134348 CA361240089	70	F>V		No	ClinGen gnomAD
CA361240109 rs1383001934	71	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3448816 rs782068965 COSM1261305	71	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361240115 rs782068965	71	R>P		No	ClinGen ExAC TOPMed gnomAD
CA361240118 COSM736317 rs1554134361	72	G>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361240137 rs1377152360	73	D>V		No	ClinGen TOPMed
CA361240154 rs1554134377	74	L>R		No	ClinGen gnomAD
TCGA novel	77	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479128016 CA361240263	80	Q>E		No	ClinGen TOPMed
CA361240271 rs1554134383	80	Q>P		No	ClinGen gnomAD
rs782778140 CA3448822	81	N>D		No	ClinGen ExAC gnomAD
rs782778140 CA3448821 COSM354454	81	N>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3448823 rs782535895	83	I>V		No	ClinGen ExAC
CA3448825 rs782803575	85	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3448826 rs781800596	86	V>L		No	ClinGen ExAC gnomAD
CA3448827 rs17844305	88	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1427134752 CA361240422	88	S>P		No	ClinGen TOPMed gnomAD
rs1554134397 CA361240439	89	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782272918 CA3448829	90	I>M		No	ClinGen ExAC gnomAD
rs782510890 CA3448831	92	R>C		No	ClinGen ExAC gnomAD
rs782510890 CA361240496	92	R>G		No	ClinGen ExAC gnomAD
CA361240506 rs1554134403	92	R>H		No	ClinGen gnomAD
rs782510890 CA3448830	92	R>S		No	ClinGen ExAC gnomAD
rs1200683987 CA361240519	93	E>G		No	ClinGen TOPMed
rs1554134406 CA361240509	93	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782278120 CA3448832	95	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361240562 rs1554134412	96	C>G		No	ClinGen gnomAD
CA361240593 rs61730626 CA3448834	97	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448835 rs782226762	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs151115812 CA361240658	101	E>A		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA3448837 rs151115812	101	E>G		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs782110680 CA3448840	104	I>V		No	ClinGen ExAC gnomAD
rs1554134447 CA361240750	105	H>Y		No	ClinGen gnomAD
CA361240834 rs1401581496	110	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs17844306 CA3448843	111	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM420906 rs1554134461 CA361240849	111	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1401604778 CA361240881	112	R>K		No	ClinGen TOPMed gnomAD
CA3448845 rs781827962	113	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361240899 rs781827962	113	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA361240906 rs1187806383	114	L>M		No	ClinGen TOPMed gnomAD
CA361240931 rs1554134473	115	Q>R		No	ClinGen gnomAD
CA361241014 rs782768797	118	H>Q		No	ClinGen ExAC gnomAD
rs1422918644 CA361241025	119	V>G		No	ClinGen TOPMed
CA3448848 rs538826701	119	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs374412032 CA3448849	120	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA361241067 rs1554134480	121	V>A		No	ClinGen gnomAD
rs1554134479 CA361241059	121	V>L		No	ClinGen gnomAD
CA361241056 rs1554134479	121	V>M		No	ClinGen gnomAD
TCGA novel	124	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448852 rs61730624	124	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361241141 rs377605550	125	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448853 rs377605550	125	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265880924 CA361241177	126	I>M		No	ClinGen TOPMed gnomAD
rs782373517 CA3448855	126	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361241235 rs1245758871	128	D>G		No	ClinGen TOPMed gnomAD
CA3448857 rs782272470	128	D>H		No	ClinGen ExAC gnomAD
CA3448860 CA361241283 rs781912893	129	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3448858 rs782317863	129	N>S		No	ClinGen ExAC gnomAD
rs572197976 CA3448863	130	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3448861 rs572197976 COSM4155499	130	P>S	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3448862 rs572197976	130	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548844035 CA128355129	131	P>A		No	ClinGen Ensembl
CA361241347 rs1328708194	132	V>A		No	ClinGen TOPMed
CA361241335 rs1554134508	132	V>M		No	ClinGen gnomAD
rs1554134513 CA361241360	133	F>I		No	ClinGen gnomAD
rs370662341 CA3448865	134	P>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	134	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM117784 CA361241382 rs370662341	134	P>S	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA3448866 rs782054098	135	A>E		No	ClinGen ExAC TOPMed
CA361241426 rs1164245907	136	T>A		No	ClinGen TOPMed gnomAD
CA361241450 rs1554134520	137	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361241459 rs1554134523	137	Q>R		No	ClinGen gnomAD
VAR_048527 rs10067182 CA3448868	138	R>K		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs10067182 CA361241472	138	R>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782512269 COSM1062088 COSM1062086 CA3448871	138	R>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA3448869 rs10067182	138	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	140	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	141	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448873 rs781901008	141	F>S		No	ClinGen ExAC gnomAD
rs782528566 CA3448874	142	I>N		No	ClinGen ExAC gnomAD
rs782579390 CA361241585	143	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782579390 CA3448875	143	A>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	143	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375091295 CA3448876	146	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554134538 CA361241642	146	R>T		No	ClinGen gnomAD
TCGA novel	147	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554134539 CA361241652	147	P>T		No	ClinGen gnomAD
COSM1310623 rs1580793449 CA361241731	151	R>G	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs782422719 COSM736232 CA3448880	153	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554134556 CA361241825	155	E>A		No	ClinGen gnomAD
CA361241845 rs1554134557	156	G>D		No	ClinGen gnomAD
rs1580793932 CA361241852	157	A>S		No	ClinGen Ensembl
CA361241885 rs1289783871	158	S>A		No	ClinGen TOPMed
CA361241914 rs1554134568	160	A>T		No	ClinGen gnomAD
rs781975656 CA3448884	160	A>V		No	ClinGen ExAC TOPMed gnomAD
CA361241955 rs1554134575	161	D>A		No	ClinGen gnomAD
rs1554134577 CA361241960	161	D>E		No	ClinGen gnomAD
CA3448885 rs782077925	162	I>V		No	ClinGen ExAC gnomAD
CA3448889 rs782159713	166	A>P		No	ClinGen ExAC gnomAD
CA361242122 rs1554134603	169	T>A		No	ClinGen gnomAD
CA3448891 rs781799704	170	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA361242146 rs781799704	170	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1404648866 CA361242154	171	R>*		No	ClinGen TOPMed
rs1299634781 CA361242191	173	S>R		No	ClinGen TOPMed
rs200331097 CA3448893	175	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361242262 rs1379120626	176	E>G		No	ClinGen TOPMed
rs1554134625 CA361242306	178	F>C		No	ClinGen gnomAD
CA361242316 rs1478738870	179	F>L		No	ClinGen TOPMed
rs781880809 CA3448895	181	D>G		No	ClinGen ExAC TOPMed gnomAD
rs782698612 CA3448897	182	V>M		No	ClinGen ExAC gnomAD
CA361242397 rs1489769942	184	T>P		No	ClinGen TOPMed
rs1219071398 CA361242424	185	S>N		No	ClinGen TOPMed
CA361242440 rs1488766121	186	N>D		No	ClinGen TOPMed
CA3448898 rs782281621	188	Q>K		No	ClinGen ExAC gnomAD
CA361242484 rs1283846830	188	Q>R		No	ClinGen TOPMed gnomAD
CA361242563 rs1554134656	192	L>P		No	ClinGen gnomAD
CA361242554 rs1222102897	192	L>V		No	ClinGen TOPMed gnomAD
CA361242625 rs1554134670	196	L>*		No	ClinGen gnomAD
rs1275898995 CA361242643	197	R>W		No	ClinGen TOPMed
CA361242682 rs1223503168	199	L>V		No	ClinGen TOPMed
rs1280536302 CA361242698	200	L>S		No	ClinGen TOPMed
rs868962334 CA361242691	200	L>V		No	ClinGen Ensembl
CA361242742 rs782341738	201	D>E		No	ClinGen ExAC gnomAD
CA361242727 rs1554134683	201	D>G		No	ClinGen gnomAD
TCGA novel	201	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	202	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562139043 CA128355433	208	L>F		No	ClinGen gnomAD
CA361242940 rs1344190823	212	L>V		No	ClinGen TOPMed gnomAD
rs1554134692 CA361242954	213	T>M		No	ClinGen gnomAD
rs1554134697 CA361242998	216	D>N		No	ClinGen gnomAD
rs1554134704 CA361243051 COSM1061919	218	G>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1061921 CA361243093 rs1554134705	221	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361243119 rs1175607106	222	L>P		No	ClinGen TOPMed
CA3448904 rs782243230	226	V>F		No	ClinGen ExAC TOPMed gnomAD
rs782010953 CA3448906	231	T>M		No	ClinGen ExAC gnomAD
rs1554134731 CA361243326	234	D>G		No	ClinGen gnomAD
rs554667660 CA128355481	235	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA3448908 rs782695651	236	N>D		No	ClinGen ExAC gnomAD
CA361243414 rs1580799239	237	D>V		No	ClinGen Ensembl
CA3448909 rs781959460	238	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1554134736 CA361243436	238	N>T		No	ClinGen gnomAD
rs1322098011 CA361243468	239	A>G		No	ClinGen TOPMed gnomAD
rs1322098011 CA361243479	239	A>V		No	ClinGen TOPMed gnomAD
CA361243511 rs1554134747	241	V>A		No	ClinGen gnomAD
rs1554134747 CA361243512	241	V>G		No	ClinGen gnomAD
rs1554134743 CA361243505	241	V>M		No	ClinGen gnomAD
TCGA novel	243	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219590569 CA361243651	247	Y>C		No	ClinGen TOPMed
TCGA novel	248	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554134753 CA361243692	248	T>S		No	ClinGen gnomAD
CA361243739 rs1554134756	249	V>G		No	ClinGen gnomAD
CA3448911 rs782767969	252	P>A		No	ClinGen ExAC gnomAD
CA361243792 rs782767969	252	P>T		No	ClinGen ExAC gnomAD
CA361243831 rs1554134762	253	E>D		No	ClinGen gnomAD
rs1361704137 CA361243823	253	E>G		No	ClinGen TOPMed gnomAD
CA361243925 rs1340549872	257	I>T		No	ClinGen TOPMed gnomAD
rs1449854317 CA361243911	257	I>V		No	ClinGen TOPMed gnomAD
rs1335549425 CA361243930	258	G>R		No	ClinGen TOPMed
rs1467791579 CA361243974	261	V>L		No	ClinGen TOPMed gnomAD
rs781908748 CA3448912	262	I>V		No	ClinGen ExAC gnomAD
CA361244102 rs1580801115	266	A>V		No	ClinGen Ensembl
rs1171302510 CA361244116	267	S>L		No	ClinGen TOPMed
rs1554134775 CA361244209	272	G>A		No	ClinGen gnomAD
rs782707802 CA3448914	273	L>F		No	ClinGen ExAC gnomAD
rs1554134781 CA361244271	274	N>S		No	ClinGen gnomAD
CA3448915 rs781791332	275	G>E		No	ClinGen ExAC gnomAD
CA361244309 rs1184992089	276	D>Y		No	ClinGen TOPMed
rs782482517 CA3448916	278	I>T		No	ClinGen ExAC TOPMed gnomAD
rs782604670 CA3448917	279	Y>H		No	ClinGen ExAC gnomAD
CA361244378 rs782260003	280	S>A		No	ClinGen ExAC gnomAD
rs1243799676 CA361244399	280	S>F		No	ClinGen TOPMed
CA3448918 rs782260003	280	S>P		No	ClinGen ExAC gnomAD
CA361244435 rs1260478265	282	S>C		No	ClinGen TOPMed gnomAD
CA361244443 rs1554134794	283	S>R		No	ClinGen gnomAD
CA361244466 rs1199841458	283	S>R		No	ClinGen TOPMed
rs1554134797 CA361244493	284	D>E		No	ClinGen gnomAD
rs782680546 CA3448920	284	D>N		No	ClinGen ExAC gnomAD
TCGA novel	284	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271413656 CA361244502	285	V>G		No	ClinGen TOPMed gnomAD
rs1307272356 CA361244495	285	V>I		No	ClinGen TOPMed
CA3448921 rs782273535	287	P>A		No	ClinGen ExAC gnomAD
rs782273535 CA361244552	287	P>S		No	ClinGen ExAC gnomAD
TCGA novel	288	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361246236 rs1313960035	289	I>M		No	ClinGen TOPMed gnomAD
CA361246228 rs1554134802	289	I>T		No	ClinGen gnomAD
rs782318423 CA3448922	289	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361246286 rs1554134807	292	K>R		No	ClinGen gnomAD
CA3448925 rs782221040	293	F>L		No	ClinGen ExAC gnomAD
rs782337528 CA3448926	293	F>Y		No	ClinGen ExAC gnomAD
CA3448928 rs781987998	295	M>K		No	ClinGen ExAC TOPMed gnomAD
CA3448927 rs781987998	295	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1352513751 CA361246375	296	D>E		No	ClinGen TOPMed
CA3448929 rs782802512	296	D>N		No	ClinGen ExAC TOPMed gnomAD
CA361246380 rs1554134816	297	P>T		No	ClinGen gnomAD
CA361246418 rs1554134823	298	L>*		No	ClinGen gnomAD
CA3448934 rs781822523	300	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3448932 rs782762880	300	G>R		No	ClinGen ExAC gnomAD
CA3448933 rs781822523	300	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361246539 rs782760399	304	V>A		No	ClinGen ExAC gnomAD
rs782760399 CA3448935	304	V>G		No	ClinGen ExAC gnomAD
CA361246560 rs1554134866	305	I>T		No	ClinGen gnomAD
CA3448936 rs781902582	305	I>V		No	ClinGen ExAC gnomAD
CA3448938 rs782537253	306	G>*		No	ClinGen ExAC TOPMed gnomAD
rs367787299 CA128355648	306	G>E		No	ClinGen ESP TOPMed gnomAD
rs782537253 CA3448937	306	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs565146954 CA3448940	308	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782605223 CA3448941	309	D>G		No	ClinGen ExAC TOPMed gnomAD
CA361246685 rs1231514628	310	F>S		No	ClinGen TOPMed
rs1554134881 CA361246761	313	S>R		No	ClinGen gnomAD
rs1554134883 CA361246828	314	R>K		No	ClinGen gnomAD
CA3448943 rs782246373	315	A>G		No	ClinGen ExAC gnomAD
TCGA novel	315	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361246882 rs1322698790	316	H>Q		No	ClinGen TOPMed
CA3448944 rs532372202	316	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361246888 rs782675124	317	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3448945 rs782675124	317	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1355221277 CA361246895	317	K>T		No	ClinGen TOPMed gnomAD
rs782206168 CA3448946 COSM1219610	318	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3448949 rs782084924	319	P>L		No	ClinGen ExAC gnomAD
rs781968667 CA3448948	319	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	320	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448950 rs782390485 COSM3826963	321	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361247013 rs781982190	322	A>P		No	ClinGen ExAC gnomAD
CA3448951 rs781982190	322	A>T		No	ClinGen ExAC gnomAD
rs1554134897 CA361247024	322	A>V		No	ClinGen gnomAD
CA361247036 rs1554134902	323	V>L		No	ClinGen gnomAD
CA361247097 rs1562344632	324	D>G		No	ClinGen Ensembl
rs1364750635 CA361247057	324	D>H		No	ClinGen TOPMed
CA361247132 rs1302770205	325	K>E		No	ClinGen TOPMed
rs781809439 CA3448955	326	G>S		No	ClinGen ExAC gnomAD
CA3448956 rs782043886	327	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3448957 rs782753121	330	L>V		No	ClinGen ExAC gnomAD
CA3448958 rs781816405	331	A>D		No	ClinGen ExAC
CA361247282 rs1418607679	331	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1406334354 CA361247308	332	G>V		No	ClinGen TOPMed gnomAD
rs1554134930 CA361247378	334	C>F		No	ClinGen gnomAD
CA361247375 rs1554134928	334	C>R		No	ClinGen gnomAD
rs149493398 CA361247439	336	V>F		No	ClinGen ExAC TOPMed gnomAD
rs149493398 COSM448771 CA3448960	336	V>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	337	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	337	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361247501 rs1554134939	338	V>M		No	ClinGen gnomAD
CA361247523 rs1490610910	339	E>*		No	ClinGen TOPMed
CA361247540 rs1562344982	339	E>V		No	ClinGen Ensembl
rs1554134951 CA361247599	342	D>G		No	ClinGen gnomAD
CA3448961 rs529756958	342	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA361247605 rs1554134951	342	D>V		No	ClinGen gnomAD
rs17844309 CA3448963 COSM149926	343	V>I	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs17844309 CA361247632	343	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1671931 CA3448965 rs782345247	345	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1554134958 CA361247686	345	D>V		No	ClinGen gnomAD
rs782661603 CA3448966	346	N>S		No	ClinGen ExAC TOPMed gnomAD
CA361247748 rs1314619067	347	A>T		No	ClinGen TOPMed
rs1554134971 CA361247854	351	T>A		No	ClinGen gnomAD
CA3448970 rs782068094	351	T>I		No	ClinGen ExAC gnomAD
rs150063888 CA128355850	352	L>F		No	ClinGen TOPMed
rs150063888 CA361247862 COSM3428985	352	L>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs781966094 CA3448972	355	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3448974 COSM1736595 rs782766094	356	S>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs781907889 CA3448975	357	L>F		No	ClinGen ExAC gnomAD
rs369845570 CA3448977	359	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361248212 rs1453069564	363	A>D		No	ClinGen TOPMed gnomAD
rs141258579 CA128355893	364	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1554134999 CA361248289	365	P>L		No	ClinGen gnomAD
COSM1062094 CA361248319 rs1343566248	366	G>D	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	367	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371322976 CA3448981	368	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782515502 CA3448982	369	I>L		No	ClinGen ExAC gnomAD
rs1554135015 CA361248454	370	T>P		No	ClinGen gnomAD
rs139807581 CA3448983 COSM589608	373	S>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA128355902 rs530500092	374	V>E		No	ClinGen 1000Genomes gnomAD
rs1554135018 CA361248550	374	V>L		No	ClinGen gnomAD
CA361248564 rs1261915665	375	F>I		No	ClinGen TOPMed gnomAD
CA3448985 rs145294768	376	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448986 rs147252917	377	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs782339816 CA3448988	380	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1554135041 CA361248810	381	V>A		No	ClinGen gnomAD
CA361248804 rs1554135039	381	V>I		No	ClinGen gnomAD
rs781999569 CA361248843	382	N>K		No	ClinGen ExAC gnomAD
rs1554135043 CA361248861	383	G>A		No	ClinGen gnomAD
CA3448990 rs140697336 CA3448991	383	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361248925 rs1220164308	385	V>L		No	ClinGen TOPMed
rs1554135044 CA361248952	386	T>I		No	ClinGen gnomAD
rs568423282 CA128355934	387	C>Y		No	ClinGen Ensembl
rs1340907598 CA361249021	388	S>Y		No	ClinGen TOPMed
CA361249064 rs1554135048	389	L>R		No	ClinGen gnomAD
CA3448995 COSM1197721 rs550090383 COSM1130901	390	T>M	lung Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782135852 CA3448996	391	P>S		No	ClinGen ExAC gnomAD
CA3448997 rs375615999	392	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361249107 rs1359916127	392	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361249125 rs1304711365	393	V>D		No	ClinGen TOPMed
CA3448998 rs781910299	393	V>F		No	ClinGen ExAC gnomAD
rs1405942635 CA361249140	394	P>A		No	ClinGen TOPMed
CA3448999 rs782525957	394	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3449001 rs781789610	395	F>L		No	ClinGen ExAC TOPMed gnomAD
rs782726291 CA3449000	395	F>S		No	ClinGen ExAC gnomAD
CA3449002 rs782489708	396	K>N		No	ClinGen ExAC gnomAD
rs1192023261 CA361249247	397	L>F		No	ClinGen TOPMed
CA3449003 rs782594410	397	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361249270 rs1426412702	398	V>A		No	ClinGen TOPMed
rs1554135076 CA361249265	398	V>L		No	ClinGen gnomAD
CA3449004 rs368614594	399	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	399	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149764673 CA128355955	401	F>Y		No	ClinGen ESP TOPMed gnomAD
rs782500453 CA3449005	402	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3449006 rs782670244	403	N>I		No	ClinGen ExAC TOPMed gnomAD
CA361249410 rs1241128064	404	Y>*		No	ClinGen TOPMed gnomAD
rs782196550 CA3449007	405	Y>C		No	ClinGen ExAC gnomAD
rs782216404 CA3449010	407	L>W		No	ClinGen ExAC gnomAD
rs1554135105 CA361249516	409	L>M		No	ClinGen gnomAD
CA3449011 rs782399996	409	L>Q		No	ClinGen ExAC gnomAD
rs1226937699 CA361249558	410	D>A		No	ClinGen TOPMed
TCGA novel	411	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145763112 CA3449015	411	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449014 rs782171716	411	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3449016 rs781932037	412	A>P		No	ClinGen ExAC TOPMed gnomAD
rs781932037 CA361249590	412	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1562347401 CA361249603	412	A>V		No	ClinGen Ensembl
rs782043218 CA3449018	415	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3449019 rs571592993	416	E>K		No	ClinGen 1000Genomes ExAC
CA361249692 rs1554135135	417	S>G		No	ClinGen gnomAD
CA3449022 rs1449740308	417	S>N		No	ClinGen TOPMed gnomAD
CA3449023 rs781821940	417	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361249701 rs1449740308	417	S>T		No	ClinGen TOPMed gnomAD
rs1460811244 CA361249750	418	V>A		No	ClinGen TOPMed gnomAD
rs1554135153 CA361249777	419	S>F		No	ClinGen gnomAD
CA361249800 rs1554135155	420	A>T		No	ClinGen gnomAD
rs781900508 CA3449027	420	A>V		No	ClinGen ExAC gnomAD
rs148944886 CA361249819	421	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361249815 rs1554135161	421	Y>C		No	ClinGen gnomAD
rs1554135160 CA361249811	421	Y>H		No	ClinGen gnomAD
rs781838540 CA3449030	423	L>P		No	ClinGen ExAC gnomAD
rs1382921748 CA361249911	425	V>A		No	ClinGen TOPMed
CA3449031 rs782481543	425	V>I		No	ClinGen ExAC TOPMed gnomAD
rs782425324 COSM1061939 COSM1062108 CA3449034	427	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1292033 CA361249981 rs1249758735	427	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs566217489 CA361249990 COSM420904	428	R>W	lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3449039 rs782306152	430	G>E		No	ClinGen ExAC gnomAD
CA361250022 rs1489343208	430	G>R		No	ClinGen TOPMed gnomAD
CA361250024 rs1489343208	430	G>W		No	ClinGen TOPMed gnomAD
CA3449041 rs781963063	431	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3449040 rs781963063	431	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361250056 rs781963063	431	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1358816520 COSM1541693 CA361250073	432	S>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA361250081 rs1358816520 COSM166725 COSM1062110	432	S>L	liver Variant assessed as Somatic; impact. endometrium haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3449043 rs781981384	433	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3449046 rs372591021	436	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361250169 rs1389967410	437	A>T		No	ClinGen TOPMed
rs782102799 CA3449047	438	T>A		No	ClinGen ExAC gnomAD
CA3449048 rs782730059	438	T>I		No	ClinGen ExAC gnomAD
CA361250186 rs782102799	438	T>P		No	ClinGen ExAC gnomAD
CA3449052 rs146607016	439	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449051 rs146607016	439	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782448945 CA361250224 CA361250229	440	S>R		No	ClinGen ExAC TOPMed gnomAD
rs782563017 CA361250241	441	V>L		No	ClinGen ExAC gnomAD
CA3449054 rs782563017	441	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361250257 rs1554135205	442	S>A		No	ClinGen gnomAD
CA3449055 rs182652510	442	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361250285 rs1490262611	444	E>K		No	ClinGen TOPMed
CA3449060 CA361250408 rs782014983	447	D>E		No	ClinGen ExAC TOPMed gnomAD
rs782412740 CA3449059	447	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782055958 CA3449061	448	V>L		No	ClinGen ExAC gnomAD
rs1554135211 CA361250470	450	D>H		No	ClinGen gnomAD
CA361250476 rs1554135214	450	D>V		No	ClinGen gnomAD
CA361250548 rs781957990	451	N>K		No	ClinGen ExAC TOPMed gnomAD
CA361250526 rs1580819130	451	N>T		No	ClinGen Ensembl
CA361250524 rs1554135223	451	N>Y		No	ClinGen gnomAD
CA3449066 rs558922738	453	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA361250606 rs1554135229	453	P>S		No	ClinGen gnomAD
rs782711903 CA3449068	454	A>V		No	ClinGen ExAC gnomAD
CA3449071 COSM736226 rs782481189	455	F>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361250734 rs1562349342	457	Q>H		No	ClinGen Ensembl
CA361250728 rs1400734217	457	Q>P		No	ClinGen TOPMed
CA361250757 rs782724807	458	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	458	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782724807 CA3449072	458	P>S		No	ClinGen ExAC TOPMed gnomAD
rs781874568 CA3449073	459	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361250869 rs782688834	460	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA361250902 rs1479334414	461	T>R		No	ClinGen TOPMed
rs141459004 CA361250956	463	F>L		No	ClinGen ESP gnomAD
rs1554135255 CA361250962 COSM1062112	464	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1554135258 CA361250993	465	K>R		No	ClinGen gnomAD
rs1447627598 CA361251068	466	E>D		No	ClinGen TOPMed gnomAD
CA361251045 rs1195624528	466	E>K		No	ClinGen TOPMed
rs1554135266 CA361251106	467	N>K		No	ClinGen gnomAD
rs1554135267 CA361251122	468	N>D		No	ClinGen gnomAD
rs782269701 CA3449076	468	N>T		No	ClinGen ExAC gnomAD
CA3449078 rs782612363 COSM448775	469	P>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361251147 rs782612363	469	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3449077 rs782453867	469	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1580821328 CA361251158	470	P>A		No	ClinGen Ensembl
CA361251176 rs1580821411	470	P>R		No	ClinGen Ensembl
rs781995630 CA3449082	472	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs145155815 CA3449080	472	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781995630 CA3449081	472	C>S		No	ClinGen ExAC gnomAD
rs1344050034 CA361251270	474	I>T		No	ClinGen TOPMed
rs1554135281 CA361251255	474	I>V		No	ClinGen gnomAD
rs1431063044 CA361251292	475	F>L		No	ClinGen TOPMed gnomAD
CA361251286 rs1271549393	475	F>V		No	ClinGen TOPMed gnomAD
CA361251309 rs1554135296	476	T>I		No	ClinGen gnomAD
CA361251353 rs1554135300	478	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361251350 rs1554135300	478	S>W		No	ClinGen gnomAD
CA128356570 rs782156940	479	A>E		No	ClinGen Ensembl
rs782156940 CA361251380	479	A>V		No	ClinGen Ensembl
CA3449088 rs781943368	480	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs375168399 CA3449087 CA128356575	480	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
rs782763638 CA3449090	481	D>G		No	ClinGen ExAC gnomAD
rs1554135313 CA361251401	481	D>N		No	ClinGen gnomAD
COSM3393207 rs1554135320 CA361251439	482	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1169870813 CA361251505	484	A>E		No	ClinGen TOPMed
rs781842437 CA361251496	484	A>P		No	ClinGen ExAC TOPMed gnomAD
COSM3240500 rs781842437 CA3449094 COSM1219584	484	A>T	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782661359 CA3449096	486	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM1433785 COSM1671936 CA3449098 rs782561322	488	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs138999138 CA128356655 COSM736301	488	A>V	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA3449102 rs781962593	489	L>Q		No	ClinGen ExAC gnomAD
CA361251627 rs1554135337	490	V>G		No	ClinGen gnomAD
rs782204797 CA3449103	490	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	490	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449106 rs782163939	491	S>F		No	ClinGen ExAC gnomAD
rs1554135342 CA361251675	492	Y>H		No	ClinGen gnomAD
rs1214782595 CA361251737	494	L>M		No	ClinGen TOPMed
rs570444161 CA128356672	494	L>P		No	ClinGen TOPMed gnomAD
rs782403364 CA361251759	495	V>L		No	ClinGen ExAC gnomAD
rs782403364 CA3449107	495	V>M		No	ClinGen ExAC gnomAD
rs781933371 CA3449108	496	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361251778 rs781933371	496	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs150074715 CA3449110	497	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361251821 COSM72092 rs1356053208	498	R>W	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs138465402 CA3449111	499	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138465402 CA3449112	499	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166974775 CA361251868	500	G>D		No	ClinGen TOPMed
rs200873751 CA3449114	500	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200873751 CA3449113	500	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1183512745 CA361251899	501	E>D		No	ClinGen TOPMed
CA3449118 rs781833224	501	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3449117 rs781833224	501	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA361251906 rs1554135389	502	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3449119 rs782651384	502	R>L		No	ClinGen ExAC gnomAD
CA361251915 rs147416989	503	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147416989 CA3449120	503	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3393187 rs147416989 CA3449121	503	A>T	Variant assessed as Somatic; 0.0 impact. pancreas central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	503	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM163312 rs374888032 CA3449123	505	S>L	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs374888032 CA3449122	505	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA361252004 rs1554135420	506	S>G		No	ClinGen gnomAD
CA361252008 rs1580826433	506	S>N		No	ClinGen Ensembl
CA361252061 rs1554135430	508	V>G		No	ClinGen gnomAD
CA361252051 rs1270383213	508	V>L		No	ClinGen TOPMed gnomAD
CA361252041 rs1270383213	508	V>M		No	ClinGen TOPMed gnomAD
rs576159276 CA3449128	510	V>A		No	ClinGen ExAC gnomAD
CA361252165 COSM1062120 rs1554135453	512	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3449130 rs782719858	513	E>Q		No	ClinGen ExAC gnomAD
rs1375358248 CA361252211	514	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	515	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781799149 CA3449131	515	G>V		No	ClinGen ExAC gnomAD
CA361252315 rs1298713019	519	A>P		No	ClinGen TOPMed gnomAD
CA361252322 rs1298713019	519	A>S		No	ClinGen TOPMed gnomAD
CA361252331 rs1352596879	519	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3449134 rs782723772	521	Q>*		No	ClinGen ExAC gnomAD
rs1554135483 CA361252434	522	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs373042408 CA128356829	525	H>D		No	ClinGen gnomAD
rs782666630 CA3449137	525	H>Q		No	ClinGen ExAC gnomAD
rs1554135493 CA361252560	525	H>R		No	ClinGen gnomAD
rs373042408 CA361252550	525	H>Y		No	ClinGen gnomAD
CA361252595 rs1162944895	526	E>*		No	ClinGen TOPMed
rs781885464 CA3449138	528	L>P		No	ClinGen ExAC TOPMed gnomAD
CA361252636 rs1422136448	528	L>V		No	ClinGen TOPMed
TCGA novel	529	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178302162 COSM1062124 CA361252717	529	E>D	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs782444226 CA3449139	530	L>R		No	ClinGen ExAC gnomAD
rs782524333 CA3449142	531	L>S		No	ClinGen ExAC gnomAD
CA3449144 rs782292494	532	Q>E		No	ClinGen ExAC gnomAD
CA361252806 rs1490395920	532	Q>R		No	ClinGen TOPMed
rs1290587139 CA361252849	534	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	535	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	535	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554135516 CA361252918	536	S>I		No	ClinGen gnomAD
rs781942603 CA3449147	536	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361252936 rs1554135520	537	A>E		No	ClinGen gnomAD
CA3449148 rs551745791	537	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3449149 rs782367355	538	R>L		No	ClinGen ExAC gnomAD
rs782754518 CA3449152	539	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782754518 CA3449153	539	D>Y		No	ClinGen ExAC gnomAD
CA361253017 rs1302809722	540	A>E		No	ClinGen TOPMed gnomAD
CA361253011 rs1405342443	540	A>P		No	ClinGen TOPMed gnomAD
CA361253013 rs1405342443	540	A>S		No	ClinGen TOPMed gnomAD
CA361253005 rs1405342443	540	A>T		No	ClinGen TOPMed gnomAD
CA361253021 rs1554135533	541	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554135535 CA361253027	541	G>D		No	ClinGen gnomAD
rs782783902 CA3449158	542	V>A		No	ClinGen ExAC gnomAD
CA3449156 rs781787561	542	V>L		No	ClinGen ExAC TOPMed gnomAD
rs781787561 CA3449157	542	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3449160 rs781862453	543	P>L		No	ClinGen ExAC gnomAD
rs781862453 CA3449159	543	P>Q		No	ClinGen ExAC gnomAD
rs1554135544 CA361253135	544	P>L		No	ClinGen gnomAD
CA361253126 rs1562353015	544	P>S		No	ClinGen Ensembl
CA361253146 rs1201962731	545	L>P		No	ClinGen TOPMed gnomAD
CA361253154 rs1267674995	546	G>D		No	ClinGen TOPMed gnomAD
rs782200664 CA3449162	546	G>R		No	ClinGen ExAC gnomAD
CA361253148 rs782200664	546	G>S		No	ClinGen ExAC gnomAD
CA361253172 rs1554135551	547	S>G		No	ClinGen gnomAD
CA3449164 rs782629469	548	N>D		No	ClinGen ExAC gnomAD
CA3449166 CA361253204 rs782386883	549	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1554135559 CA361253224	550	T>M		No	ClinGen gnomAD
rs1554135559 CA361253222	550	T>R		No	ClinGen gnomAD
CA361253235 rs1214967185	551	L>P		No	ClinGen TOPMed gnomAD
CA3449168 rs782289640	553	V>M		No	ClinGen ExAC gnomAD
rs147222848 CA3449169	554	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361253324 COSM163309 rs1554135572	555	V>M	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361253349 rs1344658459	556	L>R		No	ClinGen TOPMed gnomAD
CA3449171 rs782049482	557	D>E		No	ClinGen ExAC TOPMed gnomAD
CA128356941 rs782818423	557	D>N		No	ClinGen gnomAD
rs782735534 CA3449172	558	E>D		No	ClinGen ExAC gnomAD
TCGA novel	560	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782811496 CA3449176	561	N>K		No	ClinGen ExAC gnomAD
rs781892908 CA3449177	562	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376827518 COSM1541687 CA3449178	562	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3449179 rs782720014	563	P>L		No	ClinGen ExAC gnomAD
CA361253524 rs1387042597	565	L>M		No	ClinGen TOPMed gnomAD
rs1470495662 CA361253545	566	L>P		No	ClinGen TOPMed gnomAD
CA3449182 rs782635892	567	A>E		No	ClinGen ExAC TOPMed gnomAD
rs369889655 CA3449181	567	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361253581 rs782635892	567	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554135601 CA361253622	569	R>P		No	ClinGen gnomAD
TCGA novel	569	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449184 COSM736224 rs782545562	569	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1580833993 CA361253653	570	V>G		No	ClinGen Ensembl
CA361253667 rs782197697	571	G>A		No	ClinGen ExAC TOPMed gnomAD
rs150822529 CA361253662	571	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449186 rs782197697	571	G>D		No	ClinGen ExAC TOPMed gnomAD
rs150822529 CA3449185	571	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449188 rs782621778	573	T>P		No	ClinGen ExAC TOPMed gnomAD
CA361253710 rs1554135618	573	T>S		No	ClinGen gnomAD
rs566157572 CA3449189	574	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA361253733 rs566157572	574	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs782034445 CA361253765	576	A>P		No	ClinGen ExAC gnomAD
CA361253768 rs782034445	576	A>S		No	ClinGen ExAC gnomAD
COSM1567450 rs782034445 CA3449191	576	A>T	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1254092346 CA361253813	578	R>S		No	ClinGen TOPMed gnomAD
rs782151815 CA3449192	579	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3449193 rs782329618	580	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3449194 rs781929038	582	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361253906 rs781929038	582	P>R		No	ClinGen ExAC TOPMed gnomAD
CA361253922 rs1554135629	583	R>P		No	ClinGen gnomAD
CA361253920 rs1554135629	583	R>Q		No	ClinGen gnomAD
rs1554135637 CA361253956	585	V>L		No	ClinGen gnomAD
rs1554135637 CA361253953	585	V>M		No	ClinGen gnomAD
rs782727190 CA3449196 COSM589604	586	G>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3449198 rs139331486	587	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs139331486 CA3449199	587	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	588	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361254024 rs1554135658	588	G>D		No	ClinGen gnomAD
rs868947511 CA361254004	588	G>S		No	ClinGen Ensembl
CA361254050 rs1463857547	589	H>P		No	ClinGen TOPMed
CA361254063 rs1373246129	589	H>Q		No	ClinGen TOPMed gnomAD
rs1554135661 CA361254039	589	H>Y		No	ClinGen gnomAD
CA361254069 rs868933169	590	V>L		No	ClinGen gnomAD
CA128357135 rs17844311	591	V>G		No	ClinGen Ensembl
CA3449202 rs782569229	592	A>T		No	ClinGen ExAC gnomAD
rs373780071 CA361254168	595	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3449204 rs373780071	595	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554135692 CA361254182	595	R>L		No	ClinGen gnomAD
rs1386598071 CA361254187	596	A>S		No	ClinGen TOPMed
TCGA novel	597	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449207 rs782406262	597	V>G		No	ClinGen ExAC gnomAD
rs782290158 CA361254201	597	V>I		No	ClinGen ExAC TOPMed gnomAD
rs782290158 CA3449206	597	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782188268 CA3449209	599	A>P		No	ClinGen ExAC gnomAD
rs782188268 CA3449210	599	A>S		No	ClinGen ExAC gnomAD
rs144272290 CA3449214	602	G>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	602	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128357204 rs758091977	602	G>S		No	ClinGen Ensembl
CA361254363 rs1554135717	603	Y>F		No	ClinGen gnomAD
rs1554135720 CA361254385	604	N>K		No	ClinGen gnomAD
rs1197296602 CA361254383	604	N>S		No	ClinGen TOPMed
CA361254404 rs1554135724	605	A>E		No	ClinGen gnomAD
rs1480850746 CA361254402	605	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3449215 rs548420776	606	W>S		No	ClinGen 1000Genomes ExAC gnomAD
CA361254438 rs1252090909	607	L>I		No	ClinGen TOPMed
CA128357215 rs146617582	607	L>R		No	ClinGen ESP gnomAD
rs1554135734 CA361254458	608	S>*		No	ClinGen gnomAD
rs781840981 CA3449216	609	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA361254462 rs782719079	609	Y>H		No	ClinGen TOPMed gnomAD
rs782719079 CA128357222	609	Y>N		No	ClinGen TOPMed gnomAD
CA361254511 rs1311247537	611	L>F		No	ClinGen TOPMed gnomAD
rs1393449326 CA361254513	612	Q>K		No	ClinGen TOPMed gnomAD
rs570116646 COSM1261303 CA3449218	613	P>L	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs570116646 CA361254568	613	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781788792 CA3449217	613	P>T		No	ClinGen ExAC gnomAD
rs782729752 CA3449219	614	V>G		No	ClinGen ExAC gnomAD
CA3449220 rs370886142	615	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370886142 CA361254587	615	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449223 rs781810532	618	A>E		No	ClinGen ExAC TOPMed gnomAD
rs781810532 CA361254676	618	A>G		No	ClinGen ExAC TOPMed gnomAD
rs781810532 CA361254679	618	A>V		No	ClinGen ExAC TOPMed gnomAD
rs199869403 CA3449226	621	P>R		No	ClinGen ExAC gnomAD
CA3449225 rs140139345	621	P>S		No	ClinGen ESP ExAC gnomAD
CA3449227 rs143772295	622	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554135772 CA361254816 COSM1696280	623	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361254830 rs1183967538	623	R>L		No	ClinGen TOPMed gnomAD
rs1554135777 CA361254839	624	V>L		No	ClinGen gnomAD
TCGA novel	625	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361254867 rs1554135780	626	L>P		No	ClinGen gnomAD
rs1554135783 CA361254923	629	G>A		No	ClinGen gnomAD
rs782783816 CA128357773 COSM330476	633	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs782783816 CA361256276	633	T>R		No	ClinGen TOPMed gnomAD
rs1554135791 CA361256289	634	T>I		No	ClinGen gnomAD
CA361256281 rs1554135790	634	T>S		No	ClinGen gnomAD
CA361256292 rs146878440	635	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM736222 COSM736295 rs146878440 CA3449229	635	R>G	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs781860297 CA128357807	636	A>D		No	ClinGen Ensembl
CA3449230 rs782394720	636	A>T		No	ClinGen ExAC gnomAD
CA3449231 rs781936180	637	L>P		No	ClinGen ExAC TOPMed gnomAD
rs782170809 CA3449232	638	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1294221854 CA361256343	638	D>G		No	ClinGen TOPMed
TCGA novel	638	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782358054 CA3449233	640	T>A		No	ClinGen ExAC gnomAD
CA3449234 rs781952009 COSM163307	640	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs148995786 COSM205071 COSM1061957 CA3449235	642	A>T	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3449236 rs782760551	644	R>C		No	ClinGen ExAC gnomAD
CA3449237 COSM1061959 rs782021057	644	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361256427 rs782021057	644	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3449238 rs782069277 COSM1219612	645	H>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3449239 rs577271797	646	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs370874344 CA3449241	647	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408397134 CA361256474	647	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361256472 rs1408397134	647	L>R		No	ClinGen TOPMed gnomAD
CA361256513 rs1554135818	650	L>I		No	ClinGen gnomAD
rs1554135822 CA361256527	651	V>L		No	ClinGen gnomAD
CA3449243 rs143048298	652	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449244 rs143048298	652	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361256544 rs1562356930	653	D>N		No	ClinGen Ensembl
rs782188550 CA3449247	656	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3449248 rs151141737	656	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1739093 rs782188550 CA3449246	656	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361256609 rs1454301862	656	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3449250 rs782392130	658	S>A		No	ClinGen ExAC TOPMed gnomAD
CA3449251 COSM1663378 rs781987250	658	S>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781805810 CA3449252	659	L>V		No	ClinGen ExAC TOPMed gnomAD
rs782329482 CA3449253	660	T>I		No	ClinGen ExAC TOPMed gnomAD
CA128357952 rs183521691	662	T>R		No	ClinGen 1000Genomes
rs6880234 VAR_048528 CA3449254	663	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782121311 CA3449258	665	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782004187 CA3449257	665	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1554135890 CA361256693	666	L>P		No	ClinGen gnomAD
CA361256689 rs781884851	666	L>V		No	ClinGen ExAC gnomAD
rs377524749 COSM205073 CA3449262	667	V>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361256723 rs1319656276	670	V>L		No	ClinGen TOPMed
CA361256731 rs1554135904	671	E>*		No	ClinGen gnomAD
rs1554135904 CA361256729	671	E>K		No	ClinGen gnomAD
TCGA novel	671	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554135905 CA361256747	672	S>G		No	ClinGen gnomAD
CA3449265 rs781833961	672	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361256768 rs1554135913	673	G>R		No	ClinGen gnomAD
CA3449266 rs541994412	673	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370529939 CA3449267	674	Q>R		No	ClinGen ESP ExAC gnomAD
rs1554135925 CA361256800	675	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs367543517 COSM1433799 CA3449268	675	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA3449270 rs782551765	677	K>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA128358074 rs146953156	677	K>N		No	ClinGen ESP
CA3449269 rs782551765	677	K>T		No	ClinGen ExAC gnomAD
rs782187233 CA3449271	678	A>S		No	ClinGen ExAC gnomAD
TCGA novel	678	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449272 rs782363433	678	A>V		No	ClinGen ExAC gnomAD
rs137976668 CA361256862	679	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA361256859 rs1470820599	679	S>A		No	ClinGen TOPMed
rs137976668 CA128358120	679	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs137976668 CA3449274	679	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	680	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554135944 CA361256880	680	S>W		No	ClinGen gnomAD
rs782375452 CA3449275	681	R>G		No	ClinGen ExAC gnomAD
rs563280686 CA3449277	681	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs563280686 CA3449278	681	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA361256889 COSM1219602 rs563280686 COSM448746	681	R>Q	large_intestine breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs782375452 CA3449276 COSM1219598	681	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782096123 CA3449281	682	A>S		No	ClinGen ExAC gnomAD
rs782096123 CA3449280	682	A>T		No	ClinGen ExAC gnomAD
rs781865521 CA3449282	682	A>V		No	ClinGen ExAC gnomAD
CA3449283 rs782113000	683	S>W		No	ClinGen ExAC gnomAD
rs781805077 CA3449285	684	L>W		No	ClinGen ExAC gnomAD
rs1447681112 CA361256949	685	G>D		No	ClinGen TOPMed
CA361256939 rs1195331479	685	G>S		No	ClinGen TOPMed
CA361256958 rs1554135977	686	I>F		No	ClinGen gnomAD
CA3449292 rs61730623	692	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449291 rs61730623	692	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61730623 CA3449293	692	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449294 rs782175803	692	E>V		No	ClinGen ExAC TOPMed gnomAD
CA3449295 rs782355508	693	L>V		No	ClinGen ExAC gnomAD
CA361257109 rs1271601760	695	D>A		No	ClinGen TOPMed
rs1227457835 CA361257111	695	D>E		No	ClinGen TOPMed gnomAD
CA361257100 rs1554135989	695	D>H		No	ClinGen gnomAD
rs1554135992 CA361257159	698	V>G		No	ClinGen gnomAD
rs782130761 CA3449297	699	Y>F		No	ClinGen ExAC gnomAD
CA3449298 rs782366269	703	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1554136006 CA361257246	704	I>F		No	ClinGen gnomAD
rs1554136010 CA361257260	705	C>S		No	ClinGen gnomAD
TCGA novel	706	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547705434 CA3449301	706	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138671187 CA3449300 COSM317812	706	A>T	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM1319271 COSM213553 CA3449302 rs547705434	706	A>V	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA361257305 rs1333191283	708	S>P		No	ClinGen TOPMed
CA3449303 rs368394927	709	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449304 rs368394927 COSM205075	709	S>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3449305 rs781861599	709	S>I		No	ClinGen ExAC gnomAD
rs201271180 CA128358244	710	L>R		No	ClinGen Ensembl
CA361257368 rs1169920949	711	L>S		No	ClinGen TOPMed
rs782570045 COSM1486362 CA3449306	712	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1450136766 CA361257400	713	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	714	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554136030 CA361257423	714	T>S		No	ClinGen gnomAD
rs781797304 CA3449308	715	L>P		No	ClinGen ExAC gnomAD
rs371858287 CA3449309	716	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554136046 CA361257456	717	L>P		No	ClinGen gnomAD
CA128358277 rs375021446	718	Y>H		No	ClinGen ESP TOPMed gnomAD
rs782621405 CA3449310	719	T>K		No	ClinGen ExAC TOPMed gnomAD
rs782621405 CA361257500	719	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554136056 CA361257507	720	A>T		No	ClinGen gnomAD
COSM332053 CA361257513 rs1554136059 COSM1541978	720	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361257515 rs1562359400	721	L>M		No	ClinGen Ensembl
CA3449314 rs782633017	722	R>P		No	ClinGen ExAC gnomAD
CA361257561 rs1441069501	725	A>S		No	ClinGen TOPMed
rs782417627 COSM589667 CA3449316	725	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782229036 CA3449318	726	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782229036 CA361257572	726	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs782229036 CA361257574 COSM227747	726	P>R	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781920445 CA3449317	726	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782340668 CA3449319	728	S>A		No	ClinGen ExAC gnomAD
rs782007391 CA3449320	729	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1061963 rs1554136093 CA361257640	730	G>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3449321 rs782122239	731	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361257667 rs1283554877	732	C>G		No	ClinGen TOPMed
rs782817140 CA3449322	733	S>R		No	ClinGen ExAC gnomAD
TCGA novel CA361257724 rs1445514799	734	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA3449324 rs144694616	735	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs144694616 CA3449323	735	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1554136107 CA361257773	737	P>S		No	ClinGen gnomAD
CA361257804 rs1554136119	738	T>I		No	ClinGen gnomAD
TCGA novel	738	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166723338 CA361257815	739	L>Q		No	ClinGen TOPMed gnomAD
CA361257818 rs1166723338	739	L>R		No	ClinGen TOPMed gnomAD
rs782775903 CA3449330	740	V>A		No	ClinGen ExAC TOPMed gnomAD
rs781855969 CA361257833	741	C>G		No	ClinGen ExAC gnomAD
rs781855969 CA3449331	741	C>R		No	ClinGen ExAC gnomAD
rs1562360123 CA361257834	741	C>Y		No	ClinGen Ensembl
CA3449332 rs782550876	742	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA128358412 rs782550876	742	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1554136131 CA361257862	743	S>I		No	ClinGen gnomAD
CA361257873 rs1554136136	744	A>S		No	ClinGen gnomAD
COSM1261274 rs782197887 CA3449334	744	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs782384217 CA3449338	746	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782384217 COSM233063 CA361257923	746	G>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361257915 rs1272044084	746	G>R		No	ClinGen TOPMed
rs782287542 CA3449340	747	S>I		No	ClinGen ExAC TOPMed gnomAD
rs782287542 CA3449341	747	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1580852478 CA361257983	748	W>*		No	ClinGen Ensembl
rs782091749 COSM482091 CA3449343	750	F>L	kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361258022 rs1554136166	751	S>P		No	ClinGen gnomAD
rs1554136166 CA361258024	751	S>T		No	ClinGen gnomAD
CA361258054 COSM1541679 rs1554136168	753	Q>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3449345 rs781997276	754	R>K		No	ClinGen ExAC gnomAD
TCGA novel	754	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449347 rs368032433	755	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449346 COSM736214 rs368032433	755	R>Q	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs782067232 CA3449349	756	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1426602429 CA361258105	756	Q>L		No	ClinGen TOPMed
rs782747305 CA3449350	757	R>M		No	ClinGen ExAC TOPMed gnomAD
rs782747305 CA361258111	757	R>T		No	ClinGen ExAC TOPMed gnomAD
CA361258124 rs1580853646	758	V>G		No	ClinGen Ensembl
rs1554136215 CA361258127	759	C>R		No	ClinGen gnomAD
CA361258133 rs1554136217	759	C>W		No	ClinGen gnomAD
rs1554136218 CA361258137	760	S>P		No	ClinGen gnomAD
CA3449351 rs142732506 COSM589663	762	E>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1404155432 CA361258161	762	E>G		No	ClinGen TOPMed gnomAD
CA3449353 rs146098956	763	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449354 rs570094577	764	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs369010474 CA3449355	765	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361258183 rs369010474	765	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782592342 CA3449356	766	K>E		No	ClinGen ExAC gnomAD
CA361258193 rs782592342	766	K>Q		No	ClinGen ExAC gnomAD
CA128358483 rs535358344	767	T>I		No	ClinGen gnomAD
rs555143125 CA361258224	768	D>A		No	ClinGen Ensembl
CA3449357 rs782191451	768	D>E		No	ClinGen ExAC gnomAD
CA128358484 rs555143125	768	D>G		No	ClinGen Ensembl
COSM589661 rs1554136233 CA361258245	770	M>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1472484894 CA361258241	770	M>V		No	ClinGen TOPMed
rs1249098151 CA361258253	771	A>T		No	ClinGen TOPMed gnomAD
CA361258287 rs1488520906	773	S>G		No	ClinGen TOPMed
CA3449358 rs189142588	774	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1554136246 CA361258330	776	L>F		No	ClinGen gnomAD
COSM226142 CA3449359 rs782594648	777	P>S	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361258398 rs1218762370	780	P>L		No	ClinGen TOPMed
CA361258394 rs1554136253	780	P>T		No	ClinGen gnomAD
CA3449360 rs782253021	781	S>P		No	ClinGen ExAC TOPMed gnomAD
rs782253021 CA361258401	781	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1286648701 CA361258425	782	S>C		No	ClinGen TOPMed gnomAD
CA3449362 rs369682118	783	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs782028130 CA3449363	783	T>I		No	ClinGen ExAC gnomAD
rs1008533110 CA128358549	784	D>G		No	ClinGen gnomAD
rs782073950 CA3454452	786	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	786	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	787	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	787	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	787	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	792	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	793	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	793	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	794	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	797	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	798	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	799	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	800	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	801	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	802	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	803	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	804	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	805	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	806	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	806	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	806	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	807	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	808	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	808	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	810	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	810	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	811	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	812	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	813	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	814	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	816	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	816	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	818	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	819	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	821	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	823	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	823	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	825	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	826	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	827	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	827	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	828	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	829	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	831	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	831	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	831	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	831	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	833	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	834	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	834	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	834	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	834	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	835	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	838	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	840	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	846	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	847	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	849	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	849	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	853	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	859	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	859	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	861	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	863	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	864	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	866	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	867	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	867	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	868	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	869	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	873	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	873	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	874	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	877	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	878	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	879	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	883	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	883	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	883	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	884	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	886	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	887	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	887	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	888	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	890	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	890	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	891	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	892	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	893	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	895	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	895	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	896	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	896	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	896	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	897	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	900	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	902	T>I		No	ClinGen ExAC
rs782274123 CA3454571	903	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	904	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	906	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	906	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	907	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	908	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	909	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	910	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	910	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	915	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	916	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	917	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	917	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	920	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	920	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	923	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	925	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	928	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	929	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	929	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	929	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	930	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	930	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	931	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	932	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	933	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	934	N>Y		No	ClinGen TOPMed

No associated diseases with Q9UN72

11 regional properties for Q9UN72

Type	Name	Position	InterPro Accession
domain	Cadherin-like	45 - 133	IPR002126-1
domain	Cadherin-like	134 - 242	IPR002126-2
domain	Cadherin-like	242 - 350	IPR002126-3
domain	Cadherin-like	351 - 565	IPR002126-4
domain	Cadherin-like	581 - 678	IPR002126-5
domain	Cadherin, N-terminal	30 - 111	IPR013164
conserved_site	Cadherin conserved site	230 - 240	IPR020894-1
conserved_site	Cadherin conserved site	338 - 348	IPR020894-2
conserved_site	Cadherin conserved site	443 - 453	IPR020894-3
conserved_site	Cadherin conserved site	553 - 563	IPR020894-4
domain	Cadherin, C-terminal catenin-binding domain	787 - 920	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.

2 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
identical protein binding	Binding to an identical protein or proteins.

4 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.
cell-cell recognition	Cell recognition between cells. May involve the formation of specialized cell junctions.
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.

45 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
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
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
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
MVCPNGYDPG	GRHLLLFIII	LAAWEAGRGQ	LHYSVPEEAK	HGNFVGRIAQ	DLGLELAELV
70	80	90	100	110	120
PRLFRAVCKF	RGDLLEVNLQ	NGILFVNSRI	DREELCGRSA	ECSIHLEVIV	ERPLQVFHVD
130	140	150	160	170	180
VEVKDINDNP	PVFPATQRNL	FIAESRPLDS	RFPLEGASDA	DIGENALLTY	RLSPNEYFFL
190	200	210	220	230	240
DVPTSNQQVK	PLGLVLRKLL	DREETPELHL	LLTATDGGKP	ELTGTVQLLI	TVLDNNDNAP
250	260	270	280	290	300
VFDRTLYTVK	LPENVSIGTL	VIHPNASDLD	EGLNGDIIYS	FSSDVSPDIK	SKFHMDPLSG
310	320	330	340	350	360
AITVIGHMDF	EESRAHKIPV	EAVDKGFPPL	AGHCTVLVEV	VDVNDNAPQL	TLTSLSLPIP
370	380	390	400	410	420
EDAQPGTVIT	LISVFDRDFG	VNGQVTCSLT	PRVPFKLVST	FKNYYSLVLD	SALDRESVSA
430	440	450	460	470	480
YELVVTARDG	GSPSLWATAS	VSVEVADVND	NAPAFAQPEY	TVFVKENNPP	GCHIFTVSAG
490	500	510	520	530	540
DADAQKNALV	SYSLVELRVG	ERALSSYVSV	HAESGKVYAL	QPLDHEELEL	LQFQVSARDA
550	560	570	580	590	600
GVPPLGSNVT	LQVFVLDEND	NAPALLAPRV	GGTGGAVREL	VPRSVGAGHV	VAKVRAVDAD
610	620	630	640	650	660
SGYNAWLSYE	LQPVAAGASI	PFRVGLYTGE	ISTTRALDET	DAPRHRLLVL	VKDHGEPSLT
670	680	690	700	710	720
ATATVLVSLV	ESGQAPKASS	RASLGIAGPE	TELVDVNVYL	IIAICAVSSL	LVLTLLLYTA
730	740	750	760	770	780
LRCSAPSSEG	ACSLVKPTLV	CSSAVGSWSF	SQQRRQRVCS	GEGPPKTDLM	AFSPSLPQGP
790	800	810	820	830	840
SSTDNPRQPN	PDWRYSASLR	AGMHSSVHLE	EAGILRAGPG	GPDQQWPTVS	SATPEPEAGE
850	860	870	880	890	900
VSPPVGAGVN	SNSWTFKYGP	GNPKQSGPGE	LPDKFIIPGS	PAIISIRQEP	TNSQIDKSDF
910	920	930
ITFGKKEETK	KKKKKKKGNK	TQEKKEKGNS	TTDNSDQ