AiPD: Autoinhibited Protein Database

Q9UN73

Gene name	PCDHA6 (CNRS2)
Protein name	Protocadherin alpha-6
Names	PCDH-alpha-6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56142
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

855-950 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

855-950 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9UN73

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UN73-F1	Predicted				AlphaFoldDB

1011 variants for Q9UN73

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508600 CA3454461 rs150254638	807	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3448102 rs150637034	2	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782318154 CA3448101	2	V>M		No	ClinGen ExAC TOPMed gnomAD
CA361224576 rs1554131020	5	P>L		No	ClinGen gnomAD
rs1554131020 CA361224580	5	P>Q		No	ClinGen gnomAD
CA361224571 rs1554131019	5	P>T		No	ClinGen gnomAD
rs782771063 CA3448104	6	E>G		No	ClinGen ExAC gnomAD
rs970956452 CA128347892	7	D>E		No	ClinGen TOPMed gnomAD
rs375013243 CA3448105	7	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs923663233 CA128347904	9	L>S		No	ClinGen Ensembl
rs1182345858 CA361224631	10	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361224665 rs781796281	13	C>S		No	ClinGen ExAC TOPMed gnomAD
CA3448108 rs781796281	13	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1554131030 CA361224679	15	L>F		No	ClinGen gnomAD
rs782456632 CA3448109	16	L>H		No	ClinGen ExAC gnomAD
rs782794601 COSM1433837 CA3448110	17	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs782794601 CA3448111	17	P>R		No	ClinGen ExAC TOPMed gnomAD
CA361224715 rs1554131033	19	L>P		No	ClinGen gnomAD
rs782497466 CA3448112	21	L>F		No	ClinGen ExAC
rs1479414011 CA361224739	22	A>P		No	ClinGen TOPMed
CA3448115 rs782492216	23	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3448114 rs782219440	23	A>S		No	ClinGen ExAC gnomAD
CA361224763 rs1244863106	24	W>*		No	ClinGen TOPMed gnomAD
TCGA novel	24	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361224770 rs1554131041	25	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554131043 CA361224775	25	K>M		No	ClinGen gnomAD
rs1554131044 CA361224779	25	K>N		No	ClinGen gnomAD
CA3448116 rs782583296	26	V>L		No	ClinGen ExAC TOPMed
CA361224790 rs1554131051	27	G>R		No	ClinGen gnomAD
CA3448117 CA361224809 rs782277411	28	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361224813 rs782133322	29	G>C		No	ClinGen TOPMed
CA128347951 rs782133322	29	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554131060 CA361224818	29	G>V		No	ClinGen Ensembl
rs1377583653 CA361224822	30	Q>*		No	ClinGen TOPMed
CA361224829 rs782434045	30	Q>H		No	ClinGen ExAC gnomAD
CA361224824 rs1554131069	30	Q>P		No	ClinGen Ensembl
rs781983221 CA3448119	31	L>P		No	ClinGen ExAC gnomAD
CA361224851 rs1554131073	32	H>Q		No	ClinGen gnomAD
CA361224845 rs1554131070	32	H>Y		No	ClinGen gnomAD
CA3448122 rs369197090	33	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448121 rs782330497	33	Y>N		No	ClinGen ExAC gnomAD
CA361224858 rs369197090	33	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361224871 rs1554131077	34	S>C		No	ClinGen gnomAD
CA361224873 rs1554131077	34	S>F		No	ClinGen gnomAD
rs1581852903 CA361224867	34	S>P		No	ClinGen Ensembl
rs782720810 CA3448126	36	P>S		No	ClinGen ExAC TOPMed
rs782727109 CA3448127	37	E>K		No	ClinGen ExAC gnomAD
CA361224936 rs200919454	40	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs200919454 CA3448128	40	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161769031 CA361224954	41	H>Q		No	ClinGen TOPMed
TCGA novel	41	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448129 rs782783645	42	G>R		No	ClinGen ExAC TOPMed gnomAD
CA361224970 rs1554131099	43	T>N		No	ClinGen gnomAD
CA361224984 rs1417761655	44	F>L		No	ClinGen TOPMed gnomAD
rs1554131106 CA361224989	45	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	45	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581853720 CA361225006	47	R>G		No	ClinGen Ensembl
rs1554131117 CA361225008	47	R>Q		No	ClinGen gnomAD
rs781807408 CA3448134	49	A>E		No	ClinGen ExAC TOPMed gnomAD
rs781807408 CA3448133	49	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782505632 CA3448137	50	Q>P		No	ClinGen ExAC gnomAD
CA361225038 rs782505632	50	Q>R		No	ClinGen ExAC gnomAD
CA361225057 rs1354249187	52	L>V		No	ClinGen TOPMed gnomAD
CA3448139 rs782220355	55	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3448141 rs782592737	56	L>P		No	ClinGen ExAC
CA3448140 rs376175688	56	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782284717 CA3448142	57	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1554131139 CA361225100	57	A>T		No	ClinGen gnomAD
rs782284717 COSM3735691 CA361225106	57	A>V	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3448144 rs781990065	58	E>K		No	ClinGen ExAC gnomAD
CA3448145 rs782131288	59	L>P		No	ClinGen ExAC gnomAD
CA361225130 rs201116419	60	V>L		No	ClinGen ExAC TOPMed gnomAD
rs201116419 CA3448146	60	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1744056 rs781972651 CA3448147	61	P>L	biliary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3448148 rs781972651	61	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA361225139 rs1301296827	61	P>S		No	ClinGen TOPMed
COSM241073 rs199941722 CA3448149	62	R>C	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
COSM205067 rs373467207 CA3448150	62	R>H	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3448151 rs373467207	62	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA361225153 rs1158544001	63	L>M		No	ClinGen TOPMed gnomAD
CA3448153 rs143573134	64	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448155 rs782491543	65	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1200053101 CA361225173	65	R>M		No	ClinGen TOPMed
rs1479873419 CA361225180	65	R>S		No	ClinGen TOPMed
rs781798929 CA3448156	66	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1554131172 CA361225198	67	A>P		No	ClinGen gnomAD
rs1554131172 CA361225196	67	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554131175 CA361225261	70	D>E		No	ClinGen gnomAD
CA3448157 rs782531826	71	R>S		No	ClinGen ExAC gnomAD
rs1554131180 CA361225289	72	E>G		No	ClinGen gnomAD
rs377452254 CA3448158	72	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3448160 COSM589644 rs544173556	73	D>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs782603624 CA3448161	74	L>V		No	ClinGen ExAC gnomAD
CA3448162 rs782225981	75	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3448164 rs781937389	78	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781937389 CA361225398	78	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1554131212 CA361225407	79	L>V		No	ClinGen gnomAD
CA361225447 rs782374670	81	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3448167 rs371049380	82	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148032873 CA3448169	86	V>A		No	ClinGen ESP ExAC gnomAD
CA361225510 rs1554131222	86	V>M		No	ClinGen gnomAD
CA361225565 rs1554131244	88	S>Y		No	ClinGen gnomAD
CA3448170 rs781786009	89	R>W		No	ClinGen ExAC TOPMed
CA361225609 rs1341252383	91	D>H		No	ClinGen TOPMed gnomAD
rs1341252383 CA361225611	91	D>Y		No	ClinGen TOPMed gnomAD
CA361225636 rs1554131260	92	R>H		No	ClinGen gnomAD
CA3448175 rs781908580	94	E>K		No	ClinGen ExAC gnomAD
CA3448177 rs150162226 COSM1329072	97	G>R	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs150162226 CA3448178	97	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448179 rs782489134 COSM317821	98	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	98	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554131277 CA361225759	99	S>R		No	ClinGen gnomAD
CA3448180 rs782571134	100	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1469672004 CA361225800	101	E>G		No	ClinGen TOPMed
CA361225819 rs1554131283	102	C>G		No	ClinGen gnomAD
CA361225862 rs1554131287	104	I>T		No	ClinGen gnomAD
TCGA novel	105	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172439266 CA361225920	107	E>G		No	ClinGen TOPMed
CA3448182 rs782541724	108	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782639326 CA3448183	109	I>T		No	ClinGen ExAC gnomAD
rs1554131299 CA361225971	110	V>A		No	ClinGen gnomAD
COSM1130905 rs138737999 CA3448186	111	D>E	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3448185 rs782343743	111	D>G		No	ClinGen ExAC gnomAD
rs782176995 CA3448187	112	R>K		No	ClinGen ExAC TOPMed gnomAD
rs782176995 CA3448188	112	R>M		No	ClinGen ExAC TOPMed gnomAD
rs782010399 CA3448189	113	P>Q		No	ClinGen ExAC gnomAD
rs1554131312 CA361226013	113	P>S		No	ClinGen gnomAD
TCGA novel	116	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141978908 CA3448190	116	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448191 rs141978908	116	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448192 rs782008680	120	D>N		No	ClinGen ExAC gnomAD
CA361226157 rs782092268	121	V>L		No	ClinGen ExAC gnomAD
CA3448193 rs782092268	121	V>M		No	ClinGen ExAC gnomAD
CA361226201 rs1220650558	123	V>A		No	ClinGen TOPMed
rs1220650558 CA361226203	123	V>G		No	ClinGen TOPMed
rs782747374 CA3448194	124	R>K		No	ClinGen ExAC TOPMed gnomAD
CA361226226 rs1554131324	125	D>N		No	ClinGen gnomAD
CA361226232 rs1554131324	125	D>Y		No	ClinGen gnomAD
rs377600907 CA128348316	126	I>V		No	ClinGen ESP
CA361226292 rs1269610304	128	D>H		No	ClinGen TOPMed gnomAD
rs544725649 CA3448196	129	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs577643736 CA3448195	129	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA361226340 rs868942334	130	P>L		No	ClinGen TOPMed gnomAD
CA361226335 rs868942334	130	P>Q		No	ClinGen TOPMed gnomAD
CA361226377 rs1554131330	132	L>F		No	ClinGen gnomAD
rs782527541 CA3448199	132	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3448200 rs139629080	134	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139629080 CA3448201	134	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361226423 rs1554131337	135	V>E		No	ClinGen gnomAD
rs1333830874 CA361226418	135	V>L		No	ClinGen TOPMed
COSM1433805 CA361226436 rs1465778888	136	E>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3448205 rs1165644843	138	Q>*		No	ClinGen TOPMed gnomAD
CA3448204 rs1165644843	138	Q>E		No	ClinGen TOPMed gnomAD
CA3448208 CA3448207 rs782277050	138	Q>H		No	ClinGen ExAC gnomAD
CA361226474 rs1165644843	138	Q>K		No	ClinGen TOPMed gnomAD
CA3448210 rs540932674	140	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs375061677 CA3448213	143	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	145	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782114453 CA3448216	145	S>Y		No	ClinGen ExAC gnomAD
rs782768043 CA3448217	148	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361226684 rs1554131358	149	D>V		No	ClinGen gnomAD
CA361226758 rs868937296	153	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs868937296 CA361226754	153	P>T		No	ClinGen gnomAD
CA361226778 rs1581860327	154	L>Q		No	ClinGen Ensembl
CA361226785 rs1554131369	155	E>*		No	ClinGen gnomAD
rs1358626922 CA361226793	155	E>G		No	ClinGen TOPMed
CA3448220 rs782698898	156	G>C		No	ClinGen ExAC gnomAD
TCGA novel	156	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448221 rs782698898	156	G>S		No	ClinGen ExAC gnomAD
CA361226813 rs781859688	157	A>E		No	ClinGen ExAC gnomAD
rs781859688 CA3448224	157	A>G		No	ClinGen ExAC gnomAD
CA3448223 rs782678285	157	A>P		No	ClinGen ExAC gnomAD
CA361226811 rs782678285 COSM394018	157	A>T	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361226854 rs1443461265	159	D>E		No	ClinGen TOPMed gnomAD
CA3448226 rs148766603	159	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148766603 COSM1062020 CA361226835	159	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA361226866 rs1554131402	160	A>E		No	ClinGen gnomAD
CA361226893 rs1353542973	162	V>F		No	ClinGen TOPMed gnomAD
CA361226911 rs868943302	163	G>D		No	ClinGen Ensembl
rs1554131414 CA361226932	164	S>*		No	ClinGen gnomAD
CA361226979 rs1562298438	167	I>V		No	ClinGen Ensembl
CA361227028 rs1365615001	169	T>N		No	ClinGen TOPMed gnomAD
rs1382100762 CA361227114	173	S>R		No	ClinGen TOPMed gnomAD
rs1562298530 CA361227118	174	S>T		No	ClinGen Ensembl
rs782081687 CA3448233	175	S>R		No	ClinGen ExAC TOPMed gnomAD
rs782356866 CA3448234	176	E>*		No	ClinGen ExAC gnomAD
rs782356866 CA361227155	176	E>K		No	ClinGen ExAC gnomAD
rs782356866 CA361227158	176	E>Q		No	ClinGen ExAC gnomAD
rs782059484 CA3448236	177	Y>C		No	ClinGen ExAC gnomAD
rs367748457 CA3448235	177	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361227212 rs1202747267	178	F>L		No	ClinGen TOPMed gnomAD
rs1292534909 CA361227218 CA361227223 COSM1062022	179	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD NCI-TCGA
rs1221844247 CA361227250	181	D>V		No	ClinGen TOPMed
CA3448239 rs781898636	182	V>A		No	ClinGen ExAC
CA3448238 rs782780518	182	V>M		No	ClinGen ExAC
TCGA novel	184	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	187	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448237 rs781991870	188	D>E		No	ClinGen ExAC
rs371704232 CA128348528	189	N>S		No	ClinGen ESP TOPMed gnomAD
CA3448241 rs782783283	192	I>L		No	ClinGen ExAC gnomAD
rs111411595 CA3448242	192	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3448243 rs782486776	193	G>R		No	ClinGen ExAC gnomAD
rs150883390 CA128348552	194	L>F	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1562298994 CA361227486 COSM262774	197	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs184176193 CA3448245	199	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs782552925 CA3448246	201	D>G		No	ClinGen ExAC gnomAD
rs1373122002 CA361227514	201	D>N		No	ClinGen TOPMed
CA361227521 rs1554131461	202	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3448247 rs782689416	203	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3448248 rs782260049 CA361227533	203	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA361227540 rs1438120324	204	E>D		No	ClinGen TOPMed gnomAD
CA361227542 rs1554131471	205	A>T		No	ClinGen gnomAD
CA3448249 rs782337385	206	P>L		No	ClinGen ExAC gnomAD
rs1301928417 CA361227565	208	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361227563 rs1345759018	208	H>R		No	ClinGen TOPMed
TCGA novel	208	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142386076 CA3448251	209	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782321949 CA3448252	209	N>T		No	ClinGen ExAC gnomAD
CA361227584 rs1554131483	211	F>C		No	ClinGen gnomAD
rs782016889 CA3448253	211	F>L		No	ClinGen ExAC gnomAD
CA361227595 rs1554131485	213	T>I		No	ClinGen gnomAD
TCGA novel	213	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361227605 rs1554131491	215	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3448256 rs782007465	216	D>G		No	ClinGen ExAC gnomAD
CA128348601 rs201515728	217	G>A		No	ClinGen 1000Genomes gnomAD
rs201515728 CA361227620 COSM1696265	217	G>E	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
rs1554131498 CA361227618	217	G>R		No	ClinGen gnomAD
CA361227623 rs1159793730	218	G>S		No	ClinGen TOPMed
rs782086693 CA3448257	220	P>S		No	ClinGen ExAC gnomAD
CA3448260 rs782072726	224	G>D		No	ClinGen ExAC gnomAD
rs1479089206 CA361227666	225	T>A		No	ClinGen TOPMed
CA361227676 rs1554131518	226	V>A		No	ClinGen gnomAD
rs1554131522 CA361227691	228	L>R		No	ClinGen gnomAD
rs200187130 CA3448263	229	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527648433 CA3448264	230	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs782429400 CA361227704	231	T>I		No	ClinGen ExAC gnomAD
CA3448266 rs782429400	231	T>R		No	ClinGen ExAC gnomAD
rs781835903 CA3448265	231	T>S		No	ClinGen ExAC gnomAD
CA3448269 rs782562067	232	V>A		No	ClinGen ExAC gnomAD
rs1554131542 CA361227719	234	D>G		No	ClinGen gnomAD
rs868938692 CA361227715	234	D>N		No	ClinGen Ensembl
rs1554131543 CA361227733	236	N>S		No	ClinGen gnomAD
rs147769613 CA3448272	237	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448271 rs782262821	237	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	238	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554131556 CA361227758	240	P>A		No	ClinGen gnomAD
rs1221308735 CA361227760	240	P>H		No	ClinGen TOPMed
CA3448274 rs782185019	241	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1554131564 CA361227767	241	T>S		No	ClinGen gnomAD
CA361227770 rs1554131566	242	F>L		No	ClinGen gnomAD
rs192366589 CA128348775	243	E>D		No	ClinGen 1000Genomes
CA3448275 rs140245330	243	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361227782 rs1402518398	244	Q>*		No	ClinGen TOPMed
CA361227783 rs1402518398	244	Q>E		No	ClinGen TOPMed
rs782025213 CA3448276	246	E>G		No	ClinGen ExAC gnomAD
rs1554131575 CA361227807	247	Y>C		No	ClinGen gnomAD
rs149898673 CA361227811 COSM1062028	248	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs149898673 CA3448278	248	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3448279 rs781946751	249	V>G		No	ClinGen ExAC gnomAD
CA361227818 rs1554131583	249	V>I		No	ClinGen gnomAD
CA3448281 rs782693809	251	I>M		No	ClinGen ExAC gnomAD
rs145020293 CA3448280	251	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361227841 rs1177890960 CA361227842	252	F>L		No	ClinGen TOPMed gnomAD
rs1554131594 CA361227838	252	F>S		No	ClinGen gnomAD
CA3448283 rs782534915	255	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	255	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	255	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448286 rs782509409	258	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554131612 CA361227892	260	T>A		No	ClinGen gnomAD
CA361227895 rs1176044523	260	T>R		No	ClinGen TOPMed gnomAD
rs782226224 CA3448289	262	I>M		No	ClinGen ExAC TOPMed gnomAD
CA361227907 rs1554131616	262	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs542612445 CA3448290	263	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA361227917 rs1187191951	264	L>P		No	ClinGen TOPMed
CA128348846 rs144747110	264	L>V		No	ClinGen ESP
rs189039710 CA3448291	267	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361227937 rs189039710	267	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361227939 rs1554131624	268	D>H		No	ClinGen Ensembl
CA361227947 rs138760871	269	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs782263105 CA3448295	269	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3448294 rs782263105	269	R>P		No	ClinGen ExAC TOPMed gnomAD
rs782263105 CA3448296	269	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	270	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448298 rs782399139	272	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782399139 CA361227966	272	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3448297 rs782061233	272	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1213488123 CA361227970	273	A>E		No	ClinGen TOPMed gnomAD
CA361227971 rs1213488123	273	A>G		No	ClinGen TOPMed gnomAD
rs782033423 CA3448299	273	A>T		No	ClinGen ExAC gnomAD
rs782100050 CA3448303	274	N>Y		No	ClinGen ExAC gnomAD
CA361227984 rs1453075151	275	G>A		No	ClinGen TOPMed
rs1405025133 CA361227991	276	A>E		No	ClinGen TOPMed gnomAD
CA3448304 rs781899143	277	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3448306 rs544529014	279	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361228028 rs1554131652	282	N>S		No	ClinGen gnomAD
rs782688570 CA3448308	282	N>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448310 rs145659771	283	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs533314438 CA3448311	284	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA3448312 rs782170729	284	L>R		No	ClinGen ExAC TOPMed gnomAD
CA128349021 rs782549772	285	V>A		No	ClinGen gnomAD
rs1417954039 CA361228044	285	V>I		No	ClinGen TOPMed gnomAD
rs377572037 CA361228052	286	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361228050 rs1554131658	286	A>S		No	ClinGen gnomAD
CA3448313 rs377572037	286	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs267600392 CA128349044	287	A>T		No	ClinGen TOPMed gnomAD
rs782650081 CA3448314	288	M>V		No	ClinGen ExAC gnomAD
rs1458772035 CA361228081	291	D>Y		No	ClinGen TOPMed
rs1203175896 CA361228094	292	H>Q		No	ClinGen TOPMed
rs1305310747 CA361228095	293	F>I		No	ClinGen TOPMed
CA361228113 rs1314280199	295	I>V		No	ClinGen TOPMed
rs1581868546 CA361228121	296	D>A		No	ClinGen Ensembl
CA3448316 rs782373656	297	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3448317 rs781997527	297	R>P		No	ClinGen ExAC gnomAD
rs1554131679 CA361228129	298	N>H		No	ClinGen gnomAD
rs782081374 CA3448318	299	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	300	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448320 rs781921074	300	G>R		No	ClinGen ExAC gnomAD
CA361228151 rs1448794647	301	E>G		No	ClinGen TOPMed
rs1312575458 CA361228148	301	E>Q		No	ClinGen TOPMed
TCGA novel	301	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448321 rs782064590	302	I>V		No	ClinGen ExAC gnomAD
rs781911501 CA3448323	303	V>E		No	ClinGen ExAC gnomAD
rs782809023 CA3448322	303	V>M		No	ClinGen ExAC gnomAD
rs782124467 CA3448324	305	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM1642628 rs267600393 CA128349078	305	R>W	stomach [Cosmic]	No	ClinGen cosmic curated TOPMed
CA361228178 rs1352786477	306	G>D		No	ClinGen TOPMed
CA361228184 rs1554131712	307	N>T		No	ClinGen gnomAD
rs1562302512 CA361228192	308	L>S		No	ClinGen Ensembl
CA361228197 rs1554131717	309	D>H		No	ClinGen gnomAD
rs781827151 CA3448326	313	E>*		No	ClinGen ExAC gnomAD
rs782434715 CA3448327	316	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3448328 rs782572274	318	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1182116205 CA361228273	319	L>V		No	ClinGen TOPMed
rs782641551 CA3448331	320	I>M		No	ClinGen ExAC gnomAD
rs1554131730 CA361228282	320	I>S		No	ClinGen gnomAD
CA3448330 rs782537615	320	I>V		No	ClinGen ExAC gnomAD
CA361228291 rs1421296539	321	D>A		No	ClinGen TOPMed
TCGA novel	321	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	322	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	323	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361228334 rs1250772416	324	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	325	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554131736 CA361228363	326	G>D		No	ClinGen gnomAD
TCGA novel	328	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448333 rs782464735	329	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782260408 CA3448332	329	P>S		No	ClinGen ExAC gnomAD
rs375670586 CA128349141	330	M>T		No	ClinGen ESP TOPMed gnomAD
rs782622657 CA361228438	331	A>E		No	ClinGen ExAC gnomAD
rs782622657 CA3448334	331	A>V		No	ClinGen ExAC gnomAD
rs1581870345 CA361228471	333	H>L		No	ClinGen Ensembl
CA361228465 rs1581870295	333	H>Y		No	ClinGen Ensembl
rs1293242717 CA361228493	334	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3448337 rs782016683	334	C>F		No	ClinGen ExAC
rs1222604316 CA361228507	335	T>I		No	ClinGen TOPMed
TCGA novel	336	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448338 rs782297195	337	L>S		No	ClinGen ExAC
TCGA novel	339	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361229369 rs1554131755	339	R>T		No	ClinGen gnomAD
rs782377147 CA3448339	341	L>M		No	ClinGen ExAC gnomAD
TCGA novel	344	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554131759 CA361229418	346	N>D		No	ClinGen gnomAD
CA3448340 rs782009318	346	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782090577 CA3448341	347	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3448343 rs782090577	347	V>I		No	ClinGen ExAC TOPMed gnomAD
rs782090577 CA3448342	347	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1554131766 CA361229427	348	P>A		No	ClinGen gnomAD
rs782815088 CA3448345	348	P>H		No	ClinGen ExAC gnomAD
rs1554131767 CA361229443	350	I>K		No	ClinGen gnomAD
rs781852790 CA3448346	351	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372034322 CA3448349	352	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs372034322 CA3448348	352	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306050057 CA361229456	353	T>A		No	ClinGen TOPMed gnomAD
rs1554131777 CA361229461	354	S>T		No	ClinGen gnomAD
CA3448350 rs782437827	356	S>T		No	ClinGen ExAC gnomAD
rs1371458917 CA361229488	358	P>S		No	ClinGen TOPMed gnomAD
rs1425441168 CA361229494	359	V>I		No	ClinGen TOPMed gnomAD
CA361229493 rs1425441168	359	V>L		No	ClinGen TOPMed gnomAD
rs782649346 CA3448354	360	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1554131784 CA361229503	361	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	362	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782265434 CA3448355	363	A>P		No	ClinGen ExAC gnomAD
CA361229520 rs782265434	363	A>S		No	ClinGen ExAC gnomAD
rs782265434 CA361229519 COSM448757	363	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3448356 rs782346436	364	Q>R		No	ClinGen ExAC gnomAD
rs1554131789 CA361229535	365	F>S		No	ClinGen gnomAD
rs1364701507 CA361229547	367	T>A		No	ClinGen TOPMed
CA3448357 rs781977762	367	T>I		No	ClinGen ExAC
rs1554131794 CA361229553	368	V>A		No	ClinGen TOPMed
rs782193607 CA3448358	368	V>I		No	ClinGen ExAC gnomAD
CA361229563 rs1416881170	370	A>P		No	ClinGen TOPMed
CA3448363 rs782768322	371	L>Q		No	ClinGen ExAC gnomAD
rs782768322 CA3448362	371	L>R		No	ClinGen ExAC gnomAD
CA3448364 rs782093058	372	I>L		No	ClinGen ExAC gnomAD
rs375156998 CA361229584	373	S>R		No	ClinGen ESP TOPMed gnomAD
COSM1542014 CA3448365 rs782704197	374	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782536871 CA361229596	375	N>K		No	ClinGen ExAC gnomAD
CA3448366 rs781810260	375	N>S		No	ClinGen ExAC gnomAD
rs369380988 CA3448368	376	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361229609 rs1206771984	377	L>P		No	ClinGen TOPMed gnomAD
CA3448369 rs149405425	377	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361229612 rs1259859685	378	D>H		No	ClinGen TOPMed
CA3448371 rs782598138	379	S>L		No	ClinGen ExAC TOPMed gnomAD
CA361229624 rs1554131821	380	G>S		No	ClinGen gnomAD
CA3448373 rs782442192	381	A>G		No	ClinGen ExAC gnomAD
CA361229641 rs782289656	382	N>K		No	ClinGen ExAC TOPMed gnomAD
CA361229645 rs1554131830	383	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA128349303 rs567269256	383	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1554131832 CA361229648	384	Q>*		No	ClinGen gnomAD
CA361229649 rs1554131832	384	Q>K		No	ClinGen gnomAD
rs782370441 CA3448376	384	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA361229655 rs1386334343	385	V>M		No	ClinGen TOPMed
TCGA novel	386	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61748954 CA3448379	386	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	387	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361229671 rs1554131837	387	C>Y		No	ClinGen gnomAD
rs413874 CA361229705	392	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA361229707 rs1194699670	393	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361229709 rs1194699670	393	V>L		No	ClinGen TOPMed gnomAD
rs1261022532 CA361229718	394	P>L		No	ClinGen TOPMed
rs1554131858 CA361229738	397	L>P		No	ClinGen gnomAD
rs1554131862 CA361229743	398	V>E		No	ClinGen gnomAD
CA3448386 rs571424978	399	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361229756 rs1554131868	400	T>I		No	ClinGen gnomAD
rs1554131867 CA361229753	400	T>S		No	ClinGen gnomAD
CA361229764 rs1323098872	401	F>L		No	ClinGen TOPMed gnomAD
CA361229767 rs1554131872	402	K>E		No	ClinGen gnomAD
CA3448387 rs17844301	403	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145661045 CA3448390	405	Y>*		No	ClinGen ESP ExAC gnomAD
rs782549490 CA3448391	406	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361229852 rs1562305463	408	V>M		No	ClinGen Ensembl
rs1327527947 CA361229868	409	L>P		No	ClinGen TOPMed gnomAD
CA361229866 rs1327527947	409	L>Q		No	ClinGen TOPMed gnomAD
rs374279555 CA3448395	412	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782173510 CA3448396	413	L>V		No	ClinGen ExAC gnomAD
CA361229945 rs1554131892	415	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3448397 rs377650709	415	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448398 rs782678645	416	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3448399 rs782290596	417	S>G		No	ClinGen ExAC gnomAD
CA361229973 rs1554131894	417	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs17844302 CA3448400	417	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1426784305 CA361229991	418	V>A		No	ClinGen TOPMed gnomAD
CA361229989 rs1426784305	418	V>E		No	ClinGen TOPMed gnomAD
CA361230004 rs1475492730	419	S>W		No	ClinGen TOPMed
CA361230021 rs1581876289	420	A>V		No	ClinGen Ensembl
CA361230025 rs1554131901	421	Y>H		No	ClinGen gnomAD
CA361230060 rs1554131903	423	L>S		No	ClinGen gnomAD
rs1190991665 CA361230097	426	T>A		No	ClinGen TOPMed
CA3448404 rs782364481	426	T>N		No	ClinGen ExAC TOPMed gnomAD
CA361230093 rs1190991665	426	T>P		No	ClinGen TOPMed
CA361230119 rs1243458912	427	A>G		No	ClinGen TOPMed
TCGA novel	428	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361230125 rs1554131911	428	R>Q		No	ClinGen gnomAD
rs1202815393 CA361230122 COSM2156647	428	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361230135 rs1581876874	429	D>A		No	ClinGen Ensembl
rs1554131916 CA361230166	430	G>A		No	ClinGen gnomAD
rs150962684 CA3448408 CA3448407	430	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150962684 CA361230153	430	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	432	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361230198 rs1554131920	433	P>T		No	ClinGen gnomAD
rs1554131925 CA361230224	435	L>P		No	ClinGen TOPMed gnomAD
rs1554131933 CA361230253	437	A>S		No	ClinGen gnomAD
CA3448413 rs781838983	437	A>V		No	ClinGen ExAC gnomAD
rs782436371 CA3448414	438	T>A		No	ClinGen ExAC gnomAD
CA3448415 rs782726081	438	T>I		No	ClinGen ExAC TOPMed gnomAD
rs782436371 CA361230266	438	T>P		No	ClinGen ExAC gnomAD
rs1357066039 CA361230287	439	A>G		No	ClinGen TOPMed
CA3448417 rs782568232	440	S>G		No	ClinGen ExAC TOPMed gnomAD
rs782568232 CA361230288	440	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3448418 rs782626268	440	S>R		No	ClinGen ExAC
rs782476572 CA361230319 CA3448420	441	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3448419 rs782265720	441	L>V		No	ClinGen ExAC gnomAD
rs1554131949 CA361230396	445	V>G		No	ClinGen gnomAD
rs1554131951 CA361230406	446	A>S		No	ClinGen gnomAD
rs1554131952 CA361230424	447	D>H		No	ClinGen gnomAD
rs782028697 CA3448424	448	M>K		No	ClinGen ExAC gnomAD
rs782333114 CA361230445	448	M>L		No	ClinGen ExAC TOPMed gnomAD
rs782333114 CA3448423	448	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3448426 rs370852008	451	N>S		No	ClinGen ESP ExAC gnomAD
CA3448427 rs781944675	452	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374035546 CA3448429	453	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361230572 rs374035546	453	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1272296537 CA361230574	454	A>P		No	ClinGen TOPMed
CA361230619 rs1362203038	456	A>S		No	ClinGen TOPMed
CA361230615 COSM1062044 rs1362203038	456	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA361230626 rs1554131982	456	A>V		No	ClinGen gnomAD
rs782148698 CA3448431	457	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	457	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361230640 rs1245659020	458	P>A		No	ClinGen TOPMed
CA3448433 rs373766273	459	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3448432 rs373766273	459	E>K		No	ClinGen ExAC TOPMed gnomAD
rs373766273 CA361230649	459	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA361230670 rs1281659307	461	T>P		No	ClinGen TOPMed
CA3448437 rs377135928	464	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448438 rs782593080	465	K>R		No	ClinGen ExAC gnomAD
CA361230726 rs1554132010	466	E>K		No	ClinGen gnomAD
CA361230770 rs1366081374	468	N>S		No	ClinGen TOPMed gnomAD
CA361230768 rs1366081374	468	N>T		No	ClinGen TOPMed gnomAD
rs782505184 CA3448440	469	P>S		No	ClinGen ExAC gnomAD
CA3448442 rs527776969	470	P>L		No	ClinGen 1000Genomes ExAC TOPMed
CA361230790 rs1162907768	470	P>S		No	ClinGen TOPMed
rs542651929 CA361230799	471	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3448445 rs542651929	471	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA361230804 rs1470600823	472	C>R		No	ClinGen TOPMed gnomAD
rs782037599 CA3448447	476	T>K		No	ClinGen ExAC TOPMed gnomAD
rs782037599 CA361230853	476	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1554132035 CA361230872	478	S>C		No	ClinGen gnomAD
rs113031368 CA128349799	479	A>V		No	ClinGen gnomAD
CA3448450 rs781954491	480	R>*		No	ClinGen ExAC gnomAD
rs781954491 CA361230893 COSM736250	480	R>G	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3448451 rs550072556	481	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361230942 rs1554132056	482	A>V		No	ClinGen gnomAD
TCGA novel	484	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286115535 CA361230995	485	Q>R		No	ClinGen TOPMed
rs781814274 CA3448453	486	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1302023406 CA361231047	487	N>K		No	ClinGen TOPMed gnomAD
CA361231054 rs1554132078	488	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs138069346 CA3448457	489	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554132089 CA361231108	490	V>A		No	ClinGen gnomAD
CA3448459 COSM1739180 rs781787659	492	Y>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361231144 rs1554132093	492	Y>S		No	ClinGen gnomAD
CA3448460 rs532373432	493	S>*		No	ClinGen 1000Genomes ExAC gnomAD
rs532373432 CA361231174	493	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3448461 rs532373432	493	S>W		No	ClinGen 1000Genomes ExAC gnomAD
rs782653783 CA3448464	495	V>M		No	ClinGen ExAC gnomAD
rs143213882 CA3448466	497	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM448759 rs1481552888 CA361231238	497	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1198811288 CA361231246	498	R>Q		No	ClinGen TOPMed gnomAD
CA3448470 rs781976158	499	V>G		No	ClinGen ExAC gnomAD
CA3448468 rs782071817	499	V>L		No	ClinGen ExAC gnomAD
rs782071817 CA3448469	499	V>M		No	ClinGen ExAC gnomAD
CA3448474 rs141465004	501	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448473 rs781837602	501	E>G		No	ClinGen ExAC gnomAD
rs147522996 CA3448476	502	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361231325 rs147522996	502	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361231333 rs1554132105	502	R>L		No	ClinGen gnomAD
CA361231338 rs782543757	503	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782543757 CA3448477	503	A>S		No	ClinGen ExAC TOPMed gnomAD
rs782543757 CA128349890	503	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1554132112 CA361231372	504	L>F		No	ClinGen gnomAD
CA3448480 rs782477747	505	S>*		No	ClinGen ExAC gnomAD
rs782477747 CA361231381	505	S>W		No	ClinGen ExAC gnomAD
CA361231390 rs1554132122	506	S>T		No	ClinGen gnomAD
CA361231404 rs1282023154	507	Y>C		No	ClinGen TOPMed gnomAD
CA361231399 rs1554132126	507	Y>H		No	ClinGen gnomAD
rs750798150 CA361231410	508	I>L		No	ClinGen ExAC TOPMed gnomAD
CA3448483 rs548258006	508	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750798150 CA3448482	508	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1429736622 CA361231424	509	S>*		No	ClinGen TOPMed
CA361231425 rs1429736622	509	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3448486 rs782297187	510	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3448485 rs782297187	510	V>M		No	ClinGen ExAC TOPMed gnomAD
CA361231452 rs138462086	512	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM736248 rs138462086 CA3448488	512	A>T	lung Variant assessed as Somatic; 0.0002312 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs536607224 CA3448489 COSM1062048	512	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
COSM3946941 CA3448490 rs781938259	513	E>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs1554132144 CA361231475	514	S>G		No	ClinGen gnomAD
rs782140264 CA3448491	514	S>R		No	ClinGen ExAC gnomAD
rs374284313 CA3448492	515	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361231485 rs374284313	515	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361231490 rs1175453531	515	G>V		No	ClinGen TOPMed
rs782131350 CA3448494	517	V>E		No	ClinGen ExAC gnomAD
rs781983175 CA3448493	517	V>L		No	ClinGen ExAC gnomAD
rs1554132149 CA361231518	518	Y>H		No	ClinGen gnomAD
CA128349999 rs199727548	519	A>S		No	ClinGen gnomAD
CA361231534 rs1554132154	519	A>V		No	ClinGen gnomAD
CA3448496 rs781841292	520	L>P		No	ClinGen ExAC gnomAD
rs782717642 COSM1542006 CA3448498	522	P>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361231556 rs1581885060	522	P>S		No	ClinGen Ensembl
rs144129472 CA3448500	523	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1315863 rs782653124 CA3448501	526	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361231622 rs1246503495	528	L>V		No	ClinGen TOPMed gnomAD
rs782200772 CA3448502	530	L>M		No	ClinGen ExAC gnomAD
CA361231643 rs1554132158	530	L>P		No	ClinGen gnomAD
CA361231651 rs1554132167	531	L>P		No	ClinGen gnomAD
CA361231703 rs1262192253	535	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs61730774 CA3448507	536	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782403195 CA3448506	536	S>T		No	ClinGen ExAC TOPMed gnomAD
rs188962276 CA361231733	537	A>P		No	ClinGen gnomAD
rs188962276 COSM1642630 CA128350058	537	A>T	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1362946626 CA361231777	540	A>P		No	ClinGen TOPMed gnomAD
CA361231778 rs1362946626	540	A>S		No	ClinGen TOPMed gnomAD
CA361231785 rs1554132175	540	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782105785 CA3448512	541	G>D		No	ClinGen ExAC gnomAD
COSM1062052 CA3448513 rs553935345	542	V>M	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3448514 rs781943125	543	P>R		No	ClinGen ExAC TOPMed gnomAD
rs782154984 CA3448515	544	P>H		No	ClinGen ExAC TOPMed gnomAD
CA361231849 rs1388921761	546	G>D		No	ClinGen TOPMed
CA3448517 rs781861013	546	G>S		No	ClinGen ExAC TOPMed gnomAD
CA361231877 rs61730775 CA361231876	548	N>K		No	ClinGen ESP TOPMed gnomAD
rs782731310 CA3448519	549	V>A		No	ClinGen ExAC gnomAD
CA361231881 rs572265742 CA3448518	549	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA361231895 rs1554132200	550	T>M		No	ClinGen gnomAD
rs782448600 CA3448521	552	Q>H		No	ClinGen ExAC gnomAD
CA361231913 rs1255016400	552	Q>R		No	ClinGen TOPMed
TCGA novel	553	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361231922 rs1179697520	553	V>L		No	ClinGen TOPMed gnomAD
CA361231919 rs1179697520	553	V>M		No	ClinGen TOPMed gnomAD
rs542715333 CA128350136	555	V>A		No	ClinGen 1000Genomes
rs374448577 CA361231943 CA3448522	555	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554132217 CA361231959	557	D>N		No	ClinGen gnomAD
CA361231971 rs561019835 COSM1433857	558	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA3448523 rs561019835	558	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA361231993 rs576399974	559	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554132224 CA361231998	560	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361232020 rs1293917446	561	N>K		No	ClinGen TOPMed gnomAD
rs782657582 CA3448525	562	A>E		No	ClinGen ExAC gnomAD
COSM1062054 rs1381710258 CA361232023	562	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs782207845 CA361232038 COSM1219594	563	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3448526 rs782207845	563	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554132239 CA361232044	564	A>E		No	ClinGen gnomAD
rs1554132238 CA361232040	564	A>T		No	ClinGen gnomAD
CA361232045 rs1554132239	564	A>V		No	ClinGen gnomAD
CA3448529 rs782205074	566	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3448530 rs782412294	567	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1369213842 CA361232076	568	P>S		No	ClinGen TOPMed gnomAD
rs1369213842 CA361232075	568	P>T		No	ClinGen TOPMed gnomAD
CA3448532 rs201762893	569	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1368212237 CA361232089	569	R>L		No	ClinGen TOPMed gnomAD
CA361232087 rs1368212237	569	R>Q		No	ClinGen TOPMed gnomAD
CA361232085 rs201762893	569	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554132255 CA361232099	570	V>E		No	ClinGen gnomAD
CA3448533 rs782330450	570	V>L		No	ClinGen ExAC gnomAD
rs1554132256 CA361232101	571	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM317829 CA361232119 rs1554132261	572	G>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs139323547 CA3448535	573	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554132272 CA361232130	574	G>S		No	ClinGen gnomAD
CA361232156 COSM331440 rs1554132278	576	A>E	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361232154 rs1581889667	576	A>S		No	ClinGen Ensembl
CA361232168 rs1554132283	577	V>A		No	ClinGen gnomAD
TCGA novel rs559588538 CA3448539	578	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC gnomAD NCI-TCGA
rs782761804 CA3448540	579	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3448541 rs782761804	579	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782761804 CA361232185	579	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1562311801 CA361232200	580	L>P		No	ClinGen Ensembl
rs782481691 CA3448542	580	L>V		No	ClinGen ExAC TOPMed gnomAD
rs782451071 CA3448545	582	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361232220 rs782451071	582	P>R		No	ClinGen ExAC TOPMed gnomAD
rs781793166 CA3448544	582	P>S		No	ClinGen ExAC gnomAD
CA361232227 rs782303592	583	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3448547 rs782303592	583	R>P		No	ClinGen ExAC TOPMed gnomAD
CA361232225 rs782303592	583	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM3428979 rs782678878 CA3448546	583	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	584	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448549 rs60309716	585	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782225294 CA3448550	585	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3448548 rs60309716 VAR_061061	585	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361232247 rs1406013217	586	G>A		No	ClinGen TOPMed
CA361232242 rs1581890662	586	G>S		No	ClinGen Ensembl
rs782299315 CA3448551	587	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361232260 rs1562312098	587	A>V		No	ClinGen Ensembl
TCGA novel	588	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782139352 CA3448553	588	G>D		No	ClinGen ExAC gnomAD
TCGA novel	589	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781980127 CA3448555	589	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	590	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782132927 CA3448556	590	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782132927 CA361232277	590	V>M		No	ClinGen ExAC TOPMed gnomAD
rs180987045 CA3448560	592	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs180987045 CA3448559	592	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781889612 CA3448561	593	K>M		No	ClinGen ExAC gnomAD
rs782569714 CA3448562	593	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3448563 rs782640691	595	R>C		No	ClinGen ExAC gnomAD
CA3448564 rs781879860	595	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361232310 rs781879860	595	R>L		No	ClinGen ExAC TOPMed gnomAD
CA361232308 rs782640691	595	R>S		No	ClinGen ExAC gnomAD
CA3448565 rs782481966	596	A>S		No	ClinGen ExAC gnomAD
CA3448566 rs782481966	596	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554132355 CA361232344	599	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3448569 rs200115025	599	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3448574 rs782311466	602	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3448575 rs781935966	603	Y>H		No	ClinGen ExAC gnomAD
CA3448578 rs782806587	604	N>D		No	ClinGen ExAC gnomAD
rs1562312765 CA361232433	604	N>I		No	ClinGen Ensembl
CA3448577 rs782806587	604	N>Y		No	ClinGen ExAC gnomAD
rs1299883375 CA361232479	606	W>C		No	ClinGen TOPMed
rs1331003253 CA361232462	606	W>R		No	ClinGen TOPMed
rs1554132384 CA361232486	607	L>F		No	ClinGen gnomAD
rs782449533 CA3448583	608	S>W		No	ClinGen ExAC gnomAD
rs781897898 CA3448585	610	E>K		No	ClinGen ExAC TOPMed gnomAD
rs375341640 CA361232544	611	L>V		No	ClinGen ESP ExAC gnomAD
CA361232573 rs1554132400	613	P>S		No	ClinGen gnomAD
CA361232594 rs1562313135	614	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554132405	614	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA361232601 rs1176512976	615	A>S		No	ClinGen TOPMed gnomAD
CA361232598 rs1176512976	615	A>T		No	ClinGen TOPMed gnomAD
CA3448589 rs782208772	616	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1375837368 CA361232622	616	S>R		No	ClinGen TOPMed
rs1195178508 CA361232648	618	A>P		No	ClinGen TOPMed gnomAD
rs1195178508 CA361232645	618	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	618	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361232658 rs1554132419	619	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3448590 rs782487048	619	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554132421 CA361232665	620	F>L		No	ClinGen gnomAD
COSM1737720 rs1206602805 CA361232702	623	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1206602805 CA361232706	623	R>L		No	ClinGen TOPMed gnomAD
CA3448594 rs782040393	624	V>A		No	ClinGen ExAC gnomAD
CA361232713 rs782040393	624	V>E		No	ClinGen ExAC gnomAD
CA3448596 rs138359227	625	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254373487 CA361232768	628	T>K		No	ClinGen TOPMed
rs368674974 CA3448601	629	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs868907141 CA361232792	630	E>K		No	ClinGen Ensembl
CA3448603 rs782758390	633	T>I		No	ClinGen ExAC gnomAD
rs1554132448 CA361232867	635	R>G		No	ClinGen gnomAD
TCGA novel	635	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361232875 rs1297305883	635	R>L		No	ClinGen TOPMed gnomAD
rs782463069 CA3448605	636	V>I		No	ClinGen ExAC gnomAD
CA361232906 rs1554132452	638	D>Y		No	ClinGen gnomAD
CA128350573 rs755165097	639	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1581894800 CA361232940 COSM1287005	640	A>E	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3448611 rs782508248	641	D>E		No	ClinGen ExAC gnomAD
rs782671408 CA3448609	641	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3448610 rs782671408	641	D>V		No	ClinGen ExAC TOPMed gnomAD
rs782454436 CA3448608	641	D>Y		No	ClinGen ExAC TOPMed gnomAD
COSM1062066 CA3448613 rs782217006	643	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3448615 rs782587732	644	R>S		No	ClinGen ExAC gnomAD
rs1554132466 CA361232982	645	H>Y		No	ClinGen gnomAD
rs782267488 CA361232997	646	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3448617 rs782418109	646	R>Q		No	ClinGen ExAC gnomAD
rs782267488 CA3448616	646	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361233017 rs1243555382	647	L>R		No	ClinGen TOPMed
CA361233026 rs1581895588	648	L>P		No	ClinGen Ensembl
rs1581895552 CA361233023	648	L>V		No	ClinGen Ensembl
rs1581895686 CA361233038	649	V>G		No	ClinGen Ensembl
rs782343437 CA361233049	650	L>P		No	ClinGen ExAC gnomAD
rs782343437 CA3448620	650	L>Q		No	ClinGen ExAC gnomAD
rs1554132486 CA361233062	651	V>G		No	ClinGen gnomAD
rs1188462695 CA361233077	652	K>N		No	ClinGen TOPMed
rs781920580 CA361233082	653	D>H		No	ClinGen ExAC TOPMed gnomAD
rs781920580 CA3448621	653	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1276520798 CA361233095	654	H>Y		No	ClinGen TOPMed
CA3448623 rs782721177	655	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs868964813 CA361233114	656	E>K		No	ClinGen Ensembl
rs781870658 CA3448624	657	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361233134 rs1554132505 COSM1433859	658	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs148379064 CA3448625	658	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA361233171 rs782807658	661	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3448626 rs782807658	661	A>G		No	ClinGen ExAC TOPMed gnomAD
rs782807658 CA361233173	661	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3448628 rs782446908 COSM1130903	662	T>M	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361233216 rs1330292023	664	T>K		No	ClinGen TOPMed gnomAD
rs782303509 CA3448633	670	V>A		No	ClinGen ExAC gnomAD
CA128350691 rs368789675	670	V>M		No	ClinGen ESP TOPMed gnomAD
CA3448635 rs150521839	672	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs139450702 CA3448637	673	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA361233340 rs1472585258	673	G>S		No	ClinGen TOPMed
rs1581897342 CA361233378	674	Q>H		No	ClinGen Ensembl
rs1184044703 CA361233386	675	A>P		No	ClinGen TOPMed
rs1184044703 COSM1433861 CA361233383	675	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs543846676 CA3448638	675	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370760125 CA3448639	676	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361233405 rs1554132561	676	P>S		No	ClinGen gnomAD
rs1554132561 CA361233410	676	P>T		No	ClinGen gnomAD
TCGA novel	677	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490985098 CA361233458	678	A>E		No	ClinGen TOPMed
rs1554132564 CA361233479	679	S>*		No	ClinGen gnomAD
CA3448643 rs782712367	680	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3448646 rs116757950 COSM1433863	681	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361234722 rs782778260	682	A>E		No	ClinGen ExAC TOPMed gnomAD
rs782778260 CA3448647	682	A>V		No	ClinGen ExAC TOPMed gnomAD
CA361234735 rs782549944	683	S>L		No	ClinGen ExAC gnomAD
rs782549944 CA3448649	683	S>W		No	ClinGen ExAC gnomAD
rs1406638033 CA361234760	685	G>D		No	ClinGen TOPMed
CA3448653 rs782618791	688	G>D		No	ClinGen ExAC gnomAD
rs529947844 CA128350811	688	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA3448654 rs782618791	688	G>V		No	ClinGen ExAC gnomAD
rs782624126 CA3448656	690	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361234879 rs1554132602	691	A>S		No	ClinGen gnomAD
CA361234890 rs781932240	692	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781932240 CA3448659	692	A>T		No	ClinGen ExAC TOPMed gnomAD
rs144102346 CA3448660	692	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	694	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782009767 CA361235030	697	N>I		No	ClinGen ExAC TOPMed gnomAD
rs371660211 CA3448663 CA361235031	697	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782009767 CA3448662	697	N>S		No	ClinGen ExAC TOPMed gnomAD
rs782820560 CA3448664	699	Y>*		No	ClinGen ExAC gnomAD
rs781317992 CA128350893	701	I>V		No	ClinGen Ensembl
rs782069293 CA3448667	702	I>M		No	ClinGen ExAC gnomAD
rs782020483 CA3448666	702	I>V		No	ClinGen ExAC gnomAD
CA3448670 rs144997304	705	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224893185 CA361235245	706	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782777129 CA3448671	706	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3448673 rs782541790	707	V>A		No	ClinGen ExAC gnomAD
rs781853468 CA3448672	707	V>I		No	ClinGen ExAC gnomAD
rs782671161 CA3448674	708	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs563443253 CA3448675	709	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA361235337 rs1274237025	710	L>Q		No	ClinGen TOPMed
rs782443824 CA361235335	710	L>V		No	ClinGen ExAC gnomAD
rs1346700283 CA361235415	713	L>F		No	ClinGen TOPMed
rs374507619 CA128350952	713	L>H		No	ClinGen ESP TOPMed gnomAD
CA3448680 COSM1541998 rs782042680	714	T>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3448686 rs782731827	719	T>A		No	ClinGen ExAC gnomAD
CA361235577 rs1435019296	720	A>E		No	ClinGen TOPMed gnomAD
CA361235584 rs1435019296	720	A>G		No	ClinGen TOPMed gnomAD
rs142209596 CA3448689	722	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	723	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3448691 rs151257683	724	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554132677 CA361235640	724	S>P		No	ClinGen gnomAD
CA3448690 rs151257683	724	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA128351000 rs748242537	725	A>T		No	ClinGen Ensembl
rs781834038 CA3448695	726	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	726	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM403964 CA361235718 rs782645096	727	P>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3448697 rs782645096	727	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782590903 CA361235755	729	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1364001637 CA361235780	729	E>D		No	ClinGen TOPMed gnomAD
CA3448700 rs782590903	729	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3448702 rs782360166	730	G>A		No	ClinGen ExAC gnomAD
rs782178677 CA3448701	730	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361235815 rs782360166	730	G>V		No	ClinGen ExAC gnomAD
rs782258872 CA361235831	731	A>G		No	ClinGen ExAC gnomAD
rs1554132701 CA361235827	731	A>S		No	ClinGen gnomAD
rs782258872 CA3448704	731	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361235837 rs1554132709	732	C>R		No	ClinGen gnomAD
CA361235840 rs1434180043	732	C>S		No	ClinGen TOPMed gnomAD
CA361235839 rs1434180043	732	C>Y		No	ClinGen TOPMed gnomAD
CA361235868 rs1554132712	733	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361235866 rs1554132712	733	T>R		No	ClinGen gnomAD
rs782147005 CA3448707 COSM448765	734	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361235957 rs1359749137	736	K>E		No	ClinGen TOPMed
CA3448710 rs782089682	738	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782089682 CA361236020	738	T>R		No	ClinGen ExAC TOPMed gnomAD
CA361236033 rs1392646393	739	L>V		No	ClinGen TOPMed
CA361236052 rs1554132724	740	V>L		No	ClinGen gnomAD
TCGA novel	740	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369064445 CA3448713	743	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361236170 rs781812258	744	A>S		No	ClinGen ExAC gnomAD
CA3448716 COSM283803 rs781812258	744	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1554132736 CA361236210	746	G>R		No	ClinGen gnomAD
TCGA novel	747	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236321619 CA361236304	748	W>C		No	ClinGen TOPMed
rs1207479341 CA361236320	749	S>A		No	ClinGen TOPMed
rs1309181555 CA361236333	749	S>L		No	ClinGen TOPMed
TCGA novel	749	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361236349 rs1554132759	750	Y>C		No	ClinGen gnomAD
CA361236367 rs1554132762	751	S>*		No	ClinGen gnomAD
CA361236381 rs1554132762	751	S>L		No	ClinGen gnomAD
rs1275311628 CA361236387	752	Q>K		No	ClinGen TOPMed gnomAD
CA3448720 rs373021109	755	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361236501 rs373021109	755	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA128351184 rs756045866	755	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	756	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361236537 rs147693617	757	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147693617 CA3448721	757	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs147693617 CA3448722	757	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3448723 rs782288600	758	V>G		No	ClinGen ExAC gnomAD
CA3448724 rs782407463	760	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782181126 CA3448726	761	G>A		No	ClinGen ExAC gnomAD
rs1372928011 CA361236646	762	E>*		No	ClinGen TOPMed gnomAD
rs1554132798 CA361236663	762	E>D		No	ClinGen gnomAD
rs781946504 CA3448728	763	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA3448729 rs782121371	765	P>H		No	ClinGen ExAC gnomAD
rs1169733601 CA361236717	765	P>S		No	ClinGen TOPMed gnomAD
CA361236721 rs1169733601	765	P>T		No	ClinGen TOPMed gnomAD
CA3448730 rs138889909	766	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554132804 CA361236750	767	M>I		No	ClinGen gnomAD
CA361236736 rs1554132803	767	M>L		No	ClinGen gnomAD
CA361236733 rs1554132803	767	M>V		No	ClinGen gnomAD
CA361236764 rs1388629889	768	D>Y		No	ClinGen TOPMed
rs782073264 CA3448732	770	M>L		No	ClinGen ExAC gnomAD
rs782706530 CA3448733	770	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3448734 rs142523844	771	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	773	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554132809 CA361236895	773	S>T		No	ClinGen gnomAD
CA361236932 rs1554132810	774	P>R		No	ClinGen gnomAD
CA3448735 rs367558833	775	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782793834 CA3448736	778	P>S		No	ClinGen ExAC TOPMed gnomAD
rs781855157 CA3448737	779	C>G		No	ClinGen ExAC gnomAD
CA361237052 rs1483777919	780	P>L		No	ClinGen TOPMed
rs1554132820 CA361237047	780	P>S		No	ClinGen gnomAD
rs1554132822 CA361237083	782	M>I		No	ClinGen gnomAD
rs782562426 CA3448738	782	M>K		No	ClinGen ExAC gnomAD
CA361237080 rs782562426	782	M>T		No	ClinGen ExAC gnomAD
rs1251933211 CA361237118	784	G>R		No	ClinGen TOPMed gnomAD
rs1251933211 CA361237114	784	G>S		No	ClinGen TOPMed gnomAD
rs1204273362 CA361237136	785	K>E		No	ClinGen TOPMed
CA3448739 rs577322809	786	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs150956127 CA3448740	786	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361237176 rs553330579	787	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3448742 rs553330579	787	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1554132838 CA361237230	790	D>Y		No	ClinGen gnomAD
rs782211444 CA3448743	791	L>F		No	ClinGen ExAC gnomAD
rs782514627 CA3448744	793	E>A		No	ClinGen ExAC gnomAD
rs782635414 CA361237302 CA361237304	794	D>E		No	ClinGen ExAC gnomAD
rs782281615 CA3448746	795	H>R		No	ClinGen ExAC TOPMed gnomAD
rs782333039 CA3448747	796	D>E		No	ClinGen ExAC gnomAD
CA3448748 rs781924866	797	A>D		No	ClinGen ExAC gnomAD
rs782073950 CA3454452	799	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	799	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	800	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	800	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	800	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	805	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	806	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	806	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	807	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	810	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	811	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	812	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	813	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	814	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	815	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	816	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	817	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	818	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	819	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	819	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	819	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	820	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	821	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	821	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	823	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	823	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	824	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	825	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	826	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	827	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	829	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	829	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	831	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	832	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	834	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	836	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	836	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	838	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	839	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	840	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	840	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	841	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	842	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	844	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	844	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	844	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	844	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	846	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	847	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	847	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	847	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	847	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	848	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	851	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	853	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	859	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1179266 rs782079089 COSM1179264 COSM1179272 COSM1179273 COSM1179269 COSM1179270 COSM1179277 COSM1179268 COSM1179263 COSM1179271 COSM1179278 COSM1179275 COSM1179276 COSM1179265 CA3454537 COSM1179267 COSM1179274	860	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	862	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	862	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	866	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	872	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	872	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	874	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	876	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	877	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	879	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	880	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	880	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	881	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	882	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	886	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	886	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	887	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	890	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	891	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	892	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	896	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	896	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	896	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	897	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	899	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	900	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	900	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	901	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	903	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	903	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	904	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	905	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	906	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	908	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	908	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	909	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	909	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	909	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	910	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	913	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	915	T>I		No	ClinGen ExAC
rs782274123 CA3454571	916	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	917	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	919	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	919	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	920	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	921	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	922	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	923	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	923	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	928	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	929	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	930	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	930	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	933	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	933	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	936	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	938	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	941	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	942	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	942	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	942	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	943	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	943	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	944	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	945	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	946	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	947	N>Y		No	ClinGen TOPMed

No associated diseases with Q9UN73

2 regional properties for Q9UN73

Type	Name	Position	InterPro Accession
domain	Zinc finger, RING-type	39 - 85	IPR001841
domain	Cellulose synthase, RING-type zinc finger	29 - 105	IPR027934

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Single-pass type I membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
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.

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
Q5DRF0	PCDHA2	Protocadherin alpha-2	Pan troglodytes (Chimpanzee)	PR
Q5DRE7	PCDHA5	Protocadherin alpha-5	Pan troglodytes (Chimpanzee)	PR
Q5DRE4	PCDHA8	Protocadherin alpha-8	Pan troglodytes (Chimpanzee)	PR
Q5DRE6	PCDHA6	Protocadherin alpha-6	Pan troglodytes (Chimpanzee)	PR
Q9VJB6	CadN2	Putative neural-cadherin 2	Drosophila melanogaster (Fruit fly)	PR
Q9ULB4	CDH9	Cadherin-9	Homo sapiens (Human)	PR
P12830	CDH1	Cadherin-1	Homo sapiens (Human)	PR
Q9H159	CDH19	Cadherin-19	Homo sapiens (Human)	PR
Q9Y6N8	CDH10	Cadherin-10	Homo sapiens (Human)	PR
P55285	CDH6	Cadherin-6	Homo sapiens (Human)	PR
P19022	CDH2	Cadherin-2	Homo sapiens (Human)	PR
Q6ZTQ4	CDHR3	Cadherin-related family member 3	Homo sapiens (Human)	PR
Q9BZA8	PCDH11Y	Protocadherin-11 Y-linked	Homo sapiens (Human)	PR
Q08174	PCDH1	Protocadherin-1	Homo sapiens (Human)	PR
Q9HC56	PCDH9	Protocadherin-9	Homo sapiens (Human)	PR
Q9P2E7	PCDH10	Protocadherin-10	Homo sapiens (Human)	PR
Q9Y5H8	PCDHA3	Protocadherin alpha-3	Homo sapiens (Human)	PR
Q9UN75	PCDHA12	Protocadherin alpha-12	Homo sapiens (Human)	PR
Q9Y5I2	PCDHA10	Protocadherin alpha-10	Homo sapiens (Human)	PR
Q9UN72	PCDHA7	Protocadherin alpha-7	Homo sapiens (Human)	PR
Q9UN74	PCDHA4	Protocadherin alpha-4	Homo sapiens (Human)	PR
Q9Y5I1	PCDHA11	Protocadherin alpha-11	Homo sapiens (Human)	PR
Q9Y5H7	PCDHA5	Protocadherin alpha-5	Homo sapiens (Human)	PR
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
MVFTPEDRLG	KQCLLLPLLL	LAAWKVGSGQ	LHYSVPEEAK	HGTFVGRIAQ	DLGLELAELV
70	80	90	100	110	120
PRLFRMASKD	REDLLEVNLQ	NGILFVNSRI	DREELCGRSA	ECSIHLEVIV	DRPLQVFHVD
130	140	150	160	170	180
VEVRDINDNP	PLFPVEEQRV	LIYESRLPDS	VFPLEGASDA	DVGSNSILTY	KLSSSEYFGL
190	200	210	220	230	240
DVKINSDDNK	QIGLLLKKSL	DREEAPAHNL	FLTATDGGKP	ELTGTVQLLV	TVLDVNDNAP
250	260	270	280	290	300
TFEQSEYEVR	IFENADNGTT	VIRLNASDRD	EGANGAISYS	FNSLVAAMVI	DHFSIDRNTG
310	320	330	340	350	360
EIVIRGNLDF	EQENLYKILI	DATDKGHPPM	AGHCTVLVRI	LDKNDNVPEI	ALTSLSLPVR
370	380	390	400	410	420
EDAQFGTVIA	LISVNDLDSG	ANGQVNCSLT	PHVPFKLVST	FKNYYSLVLD	SALDRESVSA
430	440	450	460	470	480
YELVVTARDG	GSPSLWATAS	LSVEVADMND	NAPAFAQPEY	TVFVKENNPP	GCHIFTVSAR
490	500	510	520	530	540
DADAQENALV	SYSLVERRVG	ERALSSYISV	HAESGKVYAL	QPLDHEELEL	LQFQVSARDA
550	560	570	580	590	600
GVPPLGSNVT	LQVFVLDEND	NAPALLAPRV	GGTGGAVSEL	VPRSLGAGQV	VAKVRAVDAD
610	620	630	640	650	660
SGYNAWLSYE	LQPPASSARF	PFRVGLYTGE	ISTTRVLDEA	DSPRHRLLVL	VKDHGEPALT
670	680	690	700	710	720
ATATVLVSLV	ESGQAPKASS	RASVGAAGPE	AALVDVNVYL	IIAICAVSSL	LVLTLLLYTA
730	740	750	760	770	780
LRCSAPPTEG	ACTADKPTLV	CSSAVGSWSY	SQQRRQRVCS	GEGPPKMDLM	AFSPSLSPCP
790	800	810	820	830	840
IMMGKAENQD	LNEDHDAKPR	QPNPDWRYSA	SLRAGMHSSV	HLEEAGILRA	GPGGPDQQWP
850	860	870	880	890	900
TVSSATPEPE	AGEVSPPVGA	GVNSNSWTFK	YGPGNPKQSG	PGELPDKFII	PGSPAIISIR
910	920	930	940
QEPTNSQIDK	SDFITFGKKE	ETKKKKKKKK	GNKTQEKKEK	GNSTTDNSDQ