AiPD: Autoinhibited Protein Database

P28827

Gene name	PTPRM (PTPRL1)
Protein name	Receptor-type tyrosine-protein phosphatase mu
Names	Protein-tyrosine phosphatase mu, R-PTP-mu
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5797
EC number	3.1.3.48: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

748-884 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

748-884 (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

6 structures for P28827

Entry ID	Method	Resolution	Chain	Position	Source
1RPM	X-ray	230 A	A/B	879-1156	PDB
2C9A	X-ray	270 A	A	21-279	PDB
2V5Y	X-ray	310 A	A	21-742	PDB
8A16	X-ray	289 A	A/B	477-723	PDB
8A17	X-ray	309 A	A/B/C/D	477-723	PDB
AF-P28827-F1	Predicted				AlphaFoldDB

1021 variants for P28827

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA402016668 rs1417310588	2	R>K		No	ClinGen TOPMed gnomAD
CA8883730 rs747386739	3	G>V		No	ClinGen ExAC gnomAD
CA8883731 rs771185993	6	T>I		No	ClinGen ExAC gnomAD
rs1007151692 CA296369258	7	C>F		No	ClinGen gnomAD
rs1329663319 CA402016697	7	C>R		No	ClinGen TOPMed gnomAD
rs775278142 CA8883732	7	C>W		No	ClinGen ExAC gnomAD
CA402016709 rs1214559954	9	A>E		No	ClinGen gnomAD
rs1017513840 CA296369259	9	A>T		No	ClinGen TOPMed
CA8883734 rs768260274	10	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1488594433 CA402016716	10	T>I		No	ClinGen gnomAD
rs1445086378 CA402016722	11	L>F		No	ClinGen TOPMed
TCGA novel	11	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402016729 rs1567958160 COSM1222665	12	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	13	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402016730 rs1598426390	13	G>R		No	ClinGen Ensembl
CA402016738 rs1265059295	14	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402016737 rs1265059295	14	L>V		No	ClinGen gnomAD
CA296369260 rs899620898	17	T>A		No	ClinGen TOPMed gnomAD
rs997077335 CA296369261	17	T>I		No	ClinGen TOPMed
CA8883739 rs760580605	22	T>K		No	ClinGen ExAC gnomAD
rs1315816919 CA402017428	25	G>D		No	ClinGen TOPMed gnomAD
CA402016803 rs1445546680	25	G>S		No	ClinGen gnomAD
CA402017430 rs1315816919	25	G>V		No	ClinGen TOPMed gnomAD
CA402017441 rs1568112151	27	C>S		No	ClinGen Ensembl
rs373506007 CA8883770	29	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219083244 CA402017469	31	E>A		No	ClinGen TOPMed
CA402017472 rs1179623044	31	E>D		No	ClinGen gnomAD
CA8883771 rs746224951	32	P>L		No	ClinGen ExAC gnomAD
CA402017476 rs1363354244	32	P>S		No	ClinGen TOPMed
rs1429120070 CA402017483	33	Y>C		No	ClinGen TOPMed
rs138478582 CA296392291	34	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	35	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs946345402 CA296392292	37	G>R		No	ClinGen Ensembl
TCGA novel	39	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_046634 rs35224276 CA8883776 RCV000953066	39	S>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA296392293 rs1044057836	41	S>T		No	ClinGen TOPMed gnomAD
rs1568112406 CA402017549	43	G>S		No	ClinGen Ensembl
CA8883777 rs746481624	45	D>N		No	ClinGen ExAC gnomAD
CA296392295 rs746481624	45	D>Y		No	ClinGen ExAC gnomAD
rs900625461 CA296392296	46	F>S		No	ClinGen Ensembl
CA8883781 rs759304121	47	N>K		No	ClinGen ExAC TOPMed gnomAD
rs776571679 CA8883779	47	N>S		No	ClinGen ExAC TOPMed gnomAD
rs150403758 CA296392297	53	T>I		No	ClinGen Ensembl
rs763243535 CA8883783	55	T>N		No	ClinGen ExAC gnomAD
rs763243535 CA402017636	55	T>S		No	ClinGen ExAC gnomAD
CA8883785 rs751624252	57	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8883784 rs764360545	57	P>S		No	ClinGen ExAC gnomAD
CA402017651 rs1257296312	58	T>A		No	ClinGen gnomAD
CA402017658 rs1189348614	59	S>A		No	ClinGen gnomAD
TCGA novel	60	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263081130 CA402017673	61	P>Q		No	ClinGen gnomAD
TCGA novel	62	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402017682 rs1254895591	62	W>C		No	ClinGen TOPMed
rs1484487117 CA402017678	62	W>G		No	ClinGen TOPMed
CA8883789 rs151278836	63	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8883791 rs747849225	65	S>P		No	ClinGen ExAC gnomAD
CA402016833 rs1301519243	68	F>C		No	ClinGen Ensembl
rs374726087 CA402016843 CA8883818	69	M>I		No	ClinGen ESP ExAC gnomAD
CA402016837 rs1469100010	69	M>V		No	ClinGen gnomAD
CA8883819 rs113099035	70	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774505207 CA8883820	70	L>R		No	ClinGen ExAC gnomAD
rs1328587376 CA402016851	71	V>A		No	ClinGen TOPMed gnomAD
rs762068485 CA8883821	73	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8883822 rs772097470	74	S>F		No	ClinGen ExAC gnomAD
CA402016890 rs1350205611	78	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	80	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8883829 rs139956933	81	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA296405227 rs1017872981	82	A>S		No	ClinGen Ensembl
TCGA novel	82	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402016931 rs1356270711	83	H>Q		No	ClinGen TOPMed gnomAD
rs756955298 CA8883830	83	H>R		No	ClinGen ExAC gnomAD
CA296405228 rs368841103	85	L>F		No	ClinGen gnomAD
rs1198322168 CA402016952	87	P>H		No	ClinGen gnomAD
TCGA novel	87	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755629375 CA8883833	92	N>Y		No	ClinGen ExAC gnomAD
CA402017018 rs1182623949	96	C>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8883835 rs749233027	98	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768377344 CA8883836	99	F>I		No	ClinGen ExAC gnomAD
TCGA novel	99	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	100	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	101	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265118008 CA402017055	101	Y>C		No	ClinGen TOPMed gnomAD
CA402017072 rs1402043654	103	V>A		No	ClinGen gnomAD
CA402017069 rs1168167155	103	V>L		No	ClinGen gnomAD
CA8883839 rs772373797	105	S>N		No	ClinGen ExAC TOPMed gnomAD
rs183539758 CA8883840	106	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8883841 rs760798931	106	K>R		No	ClinGen ExAC TOPMed gnomAD
rs145125577 CA296405231	108	N>S		No	ClinGen ESP TOPMed
rs777158208 CA8883843	111	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1278236377 CA402017119	111	P>S		No	ClinGen TOPMed
CA8883846 rs147625334	115	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	116	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267672337 CA402017150	116	V>I		No	ClinGen gnomAD
CA402017164 rs1278067890	118	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs188245197 CA8883849	121	N>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1599301627 CA402017187	121	N>S		No	ClinGen Ensembl
rs201499307 CA296405235	123	G>E		No	ClinGen 1000Genomes
rs140491606 CA8883851	123	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1389893 rs140491606 CA296405234	123	G>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA402017216 rs1198756009	126	G>E		No	ClinGen TOPMed
rs753879763 CA8883852	129	I>M		No	ClinGen ExAC TOPMed gnomAD
CA296405236 rs755968596	129	I>V		No	ClinGen TOPMed
TCGA novel	130	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8883853 rs371315590	130	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs897716996 CA296405237	131	N>S		No	ClinGen TOPMed gnomAD
rs897716996 CA402017249	131	N>T		No	ClinGen TOPMed gnomAD
rs778677802 CA402017254	132	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8883854 rs778677802	132	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747982067 CA8883855	133	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402017267 rs1374663394	134	G>E		No	ClinGen TOPMed
TCGA novel	135	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8883857 rs778033389	136	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8883858 rs747196967	137	T>K		No	ClinGen ExAC gnomAD
rs771044309 CA8883859	138	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8883861 rs80101967	138	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8883862 rs80101967	138	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771044309 CA8883860	138	R>S		No	ClinGen ExAC TOPMed gnomAD
CA402017295 rs1228484429	139	T>I		No	ClinGen gnomAD
CA8883866 rs560144418	141	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA296405238 rs1021653791	142	R>K		No	ClinGen TOPMed
rs1021653791 CA402017314	142	R>T		No	ClinGen TOPMed
CA402017321 rs1202261398	143	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1402278680 CA402017333	145	L>V		No	ClinGen TOPMed
rs760382772 CA8883867	146	A>S		No	ClinGen ExAC gnomAD
CA296405239 rs1051958857	149	T>I		No	ClinGen Ensembl
TCGA novel	149	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8883868 rs147856783	153	N>K		No	ClinGen ESP ExAC gnomAD
CA8883869 rs753424012 TCGA novel	154	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1599302192 CA402017401	155	Y>D		No	ClinGen Ensembl
rs267605264 CA296405240	156	Q>*		No	ClinGen Ensembl
CA8883870 rs754381401	156	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	157	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs934848477 CA296407343	157	V>M		No	ClinGen TOPMed
CA402017728 rs1163077103	158	I>F		No	ClinGen gnomAD
CA402017756 rs1448565738	162	I>V		No	ClinGen TOPMed
rs1267619533 CA402017763	163	T>A		No	ClinGen gnomAD
CA8883890 rs764617156	163	T>I		No	ClinGen ExAC gnomAD
TCGA novel	164	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326795151 CA402017775	165	G>*		No	ClinGen gnomAD
rs752727067 CA8883891	169	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8883893 rs763977409 COSM1389896	171	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8883894 rs751358939	172	I>V		No	ClinGen ExAC TOPMed gnomAD
rs781449581 CA8883896	173	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA296407346 rs894013544	174	E>K		No	ClinGen TOPMed gnomAD
rs1257017653 CA402017840	175	V>L		No	ClinGen gnomAD
CA402017847 rs1456131734	176	K>Q		No	ClinGen TOPMed gnomAD
CA8883898 rs756257306	177	V>L		No	ClinGen ExAC gnomAD
CA296407347 rs1011124043	178	L>*		No	ClinGen Ensembl
rs1476991953 CA402017911	184	R>G		No	ClinGen gnomAD
rs1172762326 CA402017922	185	T>S		No	ClinGen gnomAD
CA8883922 rs755055182	186	P>A		No	ClinGen ExAC gnomAD
rs988393156 CA296409657	190	R>Q		No	ClinGen TOPMed
CA296409656 rs531199027 COSM990140	190	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA402017964 rs1277358288	192	Q>R		No	ClinGen gnomAD
CA402018021 rs1177996098	200	Q>R		No	ClinGen TOPMed
CA8883924 rs748631407	203	T>A		No	ClinGen ExAC TOPMed gnomAD
CA402018069 rs1230441300	207	S>G		No	ClinGen gnomAD
rs1599551277 CA402018076	208	A>T		No	ClinGen Ensembl
rs1486951176 CA402018089	210	G>S		No	ClinGen gnomAD
TCGA novel	211	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8883927 rs747356754	212	T>A		No	ClinGen ExAC gnomAD
CA402018108 rs762508034	213	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8883930 rs762508034	213	V>M		No	ClinGen ExAC TOPMed gnomAD
CA402018153 rs1391475694	219	W>C		No	ClinGen TOPMed
CA402018238 rs1464900334	222	G>S		No	ClinGen gnomAD
rs1202517128 CA402018245	223	I>F		No	ClinGen TOPMed gnomAD
CA402018256 rs1243017678	224	D>G		No	ClinGen gnomAD
rs1477320805 CA402018263	225	V>A		No	ClinGen gnomAD
rs199848221 CA8883962	226	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs917007136 COSM1263497 CA296412191	226	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1332871442 CA402018287	229	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402018283 rs1320697974	229	P>S		No	ClinGen TOPMed
CA8883964 rs781514891	233	I>V		No	ClinGen ExAC gnomAD
rs1315240365 CA402018335	237	S>R		No	ClinGen gnomAD
CA402018347 rs1218320068	238	S>F		No	ClinGen gnomAD
CA8883965 rs746183491	239	R>L		No	ClinGen ExAC TOPMed gnomAD
CA402018351 rs746183491	239	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1599682157 CA402018354	240	R>C		No	ClinGen Ensembl
rs754658656 CA8883966	240	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1215244926 CA402018378	243	A>V		No	ClinGen gnomAD
CA8883968 rs747627466	247	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8883969 rs771601141	251	T>I		No	ClinGen ExAC gnomAD
rs773093730 CA8883970	253	R>*		No	ClinGen ExAC gnomAD
CA8883971 rs372350305	253	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759335807 CA8883974	254	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8883975 rs770150789	255	A>D		No	ClinGen ExAC gnomAD
CA402018449 rs1475501552	255	A>T		No	ClinGen gnomAD
rs1568059926 CA402018470	258	Y>H		No	ClinGen Ensembl
CA8883976 rs775840989	259	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402018478 rs1433442393	259	R>H		No	ClinGen TOPMed gnomAD
CA8883977 rs763007928 CA402018495	261	M>I		No	ClinGen ExAC gnomAD
CA402018489 rs1445685879	261	M>L		No	ClinGen TOPMed
CA8883978 COSM1716505 rs140369696	263	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs140369696 CA402018505	263	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8883979 rs752054284	263	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402018508 rs762405557	264	T>A		No	ClinGen ExAC gnomAD
rs767973369 CA8883981	264	T>N		No	ClinGen ExAC gnomAD
CA8883980 rs762405557	264	T>P		No	ClinGen ExAC gnomAD
rs61737159 CA8883982	273	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8883983 rs756415485	275	E>A		No	ClinGen ExAC TOPMed gnomAD
CA402018584 rs1599682660	275	E>D		No	ClinGen Ensembl
rs778597650 CA8883984	277	V>G		No	ClinGen ExAC gnomAD
CA402018592 rs1336220245	277	V>I		No	ClinGen gnomAD
CA402018593 rs1336220245	277	V>L		No	ClinGen gnomAD
CA402018826 COSM474070 rs1599710354	280	E>D	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8883998 COSM314598 rs148967648	283	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA402018863 rs1335136064	284	P>S		No	ClinGen gnomAD
TCGA novel	288	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396685699 CA402018927	289	Q>H		No	ClinGen TOPMed
rs368960026 CA8884000	291	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs766703182 CA8884001	292	S>T		No	ClinGen ExAC gnomAD
TCGA novel	293	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752346159 CA8884002	301	Q>H		No	ClinGen ExAC gnomAD
CA402019031 rs1007495793	304	A>S		No	ClinGen TOPMed gnomAD
CA296412798 rs1007495793	304	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1568071312 CA402019037	305	N>Y		No	ClinGen Ensembl
CA402019050 rs1470710577	307	I>V		No	ClinGen gnomAD
rs202158284 CA8884004	308	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	311	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884006 rs756812393	313	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8884007 rs781343892	315	A>G		No	ClinGen ExAC gnomAD
CA402019106 rs1249149468 COSM270862	316	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA8884008 rs745768573 COSM3147711	316	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA296412799 rs1045500964	317	E>K		No	ClinGen TOPMed gnomAD
rs1599710785 CA402019122	318	V>G		No	ClinGen Ensembl
rs1599710802 CA402019133	320	Y>D		No	ClinGen Ensembl
CA8884010 rs779921376	321	C>R		No	ClinGen ExAC TOPMed gnomAD
CA8884011 rs748996764	322	T>M		No	ClinGen ExAC TOPMed gnomAD
CA402019153 rs1213905523	323	A>S		No	ClinGen gnomAD
TCGA novel	323	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402019180 rs1599710923	327	W>G		No	ClinGen Ensembl
rs1599710941 CA402019199	329	D>A		No	ClinGen Ensembl
rs1194652264 CA402019206	330	R>Q		No	ClinGen gnomAD
CA402019205 rs1479369922	330	R>W		No	ClinGen gnomAD
rs373015243 CA8884015	332	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884018 rs150274533	336	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA402019246 rs150274533	336	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8884020 rs759759281	337	S>C		No	ClinGen ExAC gnomAD
rs763863215 CA8884021	337	S>N		No	ClinGen ExAC TOPMed gnomAD
rs948942222 CA296412800	338	Y>H		No	ClinGen gnomAD
CA402019272 rs1325402792	340	I>T		No	ClinGen TOPMed
TCGA novel	342	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460207942 CA402019295	344	D>N		No	ClinGen TOPMed
TCGA novel	346	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884024 rs767112903	348	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1470114113 CA402019378	356	T>P		No	ClinGen TOPMed
rs756152280 CA8884026	360	E>V		No	ClinGen ExAC gnomAD
CA296412801 rs111294805	362	G>D		No	ClinGen Ensembl
CA8884027 rs779789354	363	T>I		No	ClinGen ExAC gnomAD
rs1189020159 CA402019480	372	T>I		No	ClinGen gnomAD
rs1297903462 CA402020954	380	M>I		No	ClinGen TOPMed
CA8884044 rs147623982	380	M>T		No	ClinGen ExAC TOPMed gnomAD
CA8884043 rs755629324	380	M>V		No	ClinGen ExAC gnomAD
CA8884045 rs753717359	381	R>*	Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8884046 rs753717359	381	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8884047 rs778553255	382	G>S		No	ClinGen ExAC gnomAD
TCGA novel	385	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377050800 CA8884048	386	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA402020987 rs377050800	386	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	388	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884050 rs777910211	391	V>F		No	ClinGen ExAC gnomAD
CA8884051 rs747146046	392	K>R		No	ClinGen ExAC gnomAD
CA296424902 rs982828061	393	S>T		No	ClinGen TOPMed
TCGA novel	393	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884053 rs781741376	394	R>Q		No	ClinGen ExAC gnomAD
rs770908081 CA8884052 COSM990150	394	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746337505 CA8884054	395	Q>H		No	ClinGen ExAC
CA8884056 rs776028966	398	I>V		No	ClinGen ExAC gnomAD
CA8884057 rs763342297	399	R>C	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs141549150 CA402021064	399	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141549150 CA8884059	399	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884058 rs763342297	399	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	400	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	400	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402021102 rs1482978017	404	G>V		No	ClinGen TOPMed
rs1254917602 CA402021133	409	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1389899 rs1478345370 CA402021136	409	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1176523332 CA402021150	411	H>R		No	ClinGen gnomAD
CA402021156 rs1405609442	412	S>N		No	ClinGen gnomAD
rs1420663868 CA402021172	414	N>S		No	ClinGen gnomAD
CA402021195 rs1459501174	418	H>N		No	ClinGen gnomAD
TCGA novel	419	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884064 rs139024463	420	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201218602 CA8884065	422	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA296424904 rs766138355	423	V>I		No	ClinGen Ensembl
CA402021243 rs1279484067	424	G>V		No	ClinGen gnomAD
CA8884066 rs769216825	425	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8884067 rs778033329	426	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	427	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402021266 rs1334477281	428	Q>*		No	ClinGen gnomAD
rs757405325 CA8884069	428	Q>H		No	ClinGen ExAC gnomAD
rs1277302015 CA402021274	429	V>A		No	ClinGen gnomAD
rs1600385631 CA402021272	429	V>M		No	ClinGen Ensembl
CA8884071 rs201963689	430	R>Q		No	ClinGen TOPMed gnomAD
rs1452234882 CA402021296	432	E>D		No	ClinGen gnomAD
CA402021314 rs1203830180	435	W>*		No	ClinGen gnomAD
rs1568288530 CA402021323	436	D>G		No	ClinGen Ensembl
CA402021320 rs745919700	436	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8884073 rs745919700	436	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8884074 rs770206877	437	T>A		No	ClinGen ExAC TOPMed gnomAD
CA402021350 rs1416858647	440	S>A		No	ClinGen gnomAD
rs749718741 CA402021360	441	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	444	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773064222 CA8884078	444	H>R		No	ClinGen ExAC gnomAD
rs769109725 CA8884077	444	H>Y		No	ClinGen ExAC gnomAD
CA8884080 rs368575974	445	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884079 rs368575974	445	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884082 rs759041667	446	I>L		No	ClinGen ExAC gnomAD
rs1309057744 CA402021397	447	T>I		No	ClinGen gnomAD
rs752602978 CA8884084	450	S>L		No	ClinGen ExAC gnomAD
CA8884088 rs757425435	454	N>S		No	ClinGen ExAC gnomAD
CA402021465 rs1309231253	458	K>*		No	ClinGen gnomAD
rs781436485 CA8884089	459	L>M		No	ClinGen ExAC gnomAD
rs868203930 CA402021481	460	I>M		No	ClinGen TOPMed
CA402021498 rs1256615619	463	N>D		No	ClinGen gnomAD
TCGA novel	464	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884090 rs750491747	464	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756195807 CA8884091	467	R>G		No	ClinGen ExAC gnomAD
rs370645353 CA8884093	467	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370645353 CA8884094	467	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs756195807 CA8884092	467	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402021526 rs1474848702	468	K>E		No	ClinGen gnomAD
TCGA novel	470	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	471	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884095 rs779430034	471	Q>P		No	ClinGen ExAC gnomAD
CA402021570 rs1169765678	474	I>L		No	ClinGen gnomAD
TCGA novel	475	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402021597 rs1461811413	478	D>N		No	ClinGen TOPMed
rs745412820 CA8884099	480	D>E		No	ClinGen ExAC gnomAD
CA8884100 rs375793330	481	L>F		No	ClinGen ESP ExAC gnomAD
rs1236363865 CA402018631	482	P>S		No	ClinGen gnomAD
CA402018639 rs769632993	483	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8884117 rs769632993	483	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8884118 rs769381852	485	V>L		No	ClinGen ExAC gnomAD
rs1226906509 CA402018663	487	T>I		No	ClinGen TOPMed
rs774986845 CA8884119	489	S>C		No	ClinGen ExAC gnomAD
rs1465033358 CA402018686	491	Q>*		No	ClinGen gnomAD
rs748757259 CA8884120	492	G>R		No	ClinGen ExAC gnomAD
rs768603391 CA8884121	493	S>G		No	ClinGen ExAC gnomAD
CA296425600 rs945498896	494	T>I		No	ClinGen Ensembl
CA8884123 rs149407641	499	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1226919492 CA402018745	499	I>T		No	ClinGen gnomAD
rs369526421 CA8884124	500	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884126 rs773361900	502	Q>H		No	ClinGen ExAC gnomAD
rs1343231000 CA402018784	505	E>Q		No	ClinGen TOPMed gnomAD
CA296425602 rs143056646	506	P>S		No	ClinGen Ensembl
rs753999409 CA8884128	507	T>I		No	ClinGen ExAC gnomAD
CA402018798 rs1440387848	507	T>S		No	ClinGen TOPMed
rs755055378 CA8884129	509	T>I		No	ClinGen ExAC gnomAD
rs753248058 CA8884131	512	V>I		No	ClinGen ExAC TOPMed gnomAD
CA402018867 rs1324119163	513	I>V		No	ClinGen gnomAD
rs778216178 CA8884133	516	Y>F		No	ClinGen ExAC gnomAD
rs552528537 CA296425604	517	E>G		No	ClinGen Ensembl
COSM344663 CA402018925 rs1289944484	517	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1379881539 CA402019540	518	I>M		No	ClinGen TOPMed
rs548529823 CA8884146	519	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA8884147 rs776966730	520	Y>C		No	ClinGen ExAC gnomAD
rs759760004 CA8884148	521	K>R		No	ClinGen ExAC gnomAD
CA8884149 rs765349227	523	V>A		No	ClinGen ExAC TOPMed gnomAD
CA296426627 rs765349227	523	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1323088531 CA402019571	524	S>G		No	ClinGen TOPMed gnomAD
rs568430278 CA8884150	524	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA402019582 rs1402152124	525	S>F		No	ClinGen TOPMed
CA8884151 rs763522842	528	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8884152 rs764469764	529	E>G		No	ClinGen ExAC
CA8884153 rs144527704	530	I>V		No	ClinGen ESP ExAC gnomAD
CA402019636 rs1254488286	533	S>C		No	ClinGen TOPMed gnomAD
CA402019637 rs1254488286	533	S>F		No	ClinGen TOPMed gnomAD
rs1279127333 CA402019642	534	N>S		No	ClinGen gnomAD
CA402019657 rs1255680225	536	S>N		No	ClinGen TOPMed gnomAD
CA8884154 rs757596315	537	G>V		No	ClinGen ExAC gnomAD
CA8884155 rs779722021	538	R>T		No	ClinGen ExAC gnomAD
CA296426628 rs760580334	539	V>I		No	ClinGen TOPMed gnomAD
rs1460457037 CA402019680	540	S>P		No	ClinGen TOPMed gnomAD
CA402019685 rs1238116431	541	K>E		No	ClinGen TOPMed
TCGA novel	546	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753484273 CA8884156	547	H>R		No	ClinGen ExAC gnomAD
CA8884158 rs754503661	548	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8884161 rs772075399	550	F>C		No	ClinGen ExAC gnomAD
CA8884160 rs747543276	550	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	551	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	552	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396219663 CA402019781	555	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1323087427 CA402019786	556	G>E		No	ClinGen gnomAD
rs1366583378 CA402019791	557	T>S		No	ClinGen TOPMed gnomAD
CA402019799 rs1226923399	558	T>R		No	ClinGen gnomAD
rs1277399788 CA402019802	559	Y>H		No	ClinGen gnomAD
CA402019814 rs1343420658	560	S>C		No	ClinGen gnomAD
rs1210639519 CA402019822	561	F>L		No	ClinGen gnomAD
CA402019824 COSM284385 rs1600480027	562	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA402019823 rs1600480027	562	T>P		No	ClinGen Ensembl
rs770849671 CA8884164 COSM125688	564	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1308489116 CA402019848	566	S>G		No	ClinGen TOPMed
CA296426630 rs1052122056	566	S>N		No	ClinGen Ensembl
rs1444422939 CA402019859	568	A>S		No	ClinGen TOPMed
TCGA novel	571	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202111611 CA296426631	575	A>T		No	ClinGen Ensembl
rs769844011 CA8884167	576	T>K		No	ClinGen ExAC TOPMed gnomAD
rs148482633 CA296426632	578	Q>E		No	ClinGen ESP TOPMed gnomAD
CA402019925 rs1283842215	578	Q>P		No	ClinGen gnomAD
CA296426633 rs111759011	580	T>A		No	ClinGen Ensembl
CA8884169 rs762894793	580	T>I		No	ClinGen ExAC gnomAD
rs762894793 CA402019940	580	T>N		No	ClinGen ExAC gnomAD
CA402019952 rs1453684657	582	K>R		No	ClinGen gnomAD
CA296426945 rs1018429301	587	S>A		No	ClinGen Ensembl
rs767944518 CA8884193	587	S>C		No	ClinGen ExAC gnomAD
rs773595656 CA8884194	588	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8884196 rs760897331	590	A>P		No	ClinGen ExAC gnomAD
CA8884195 rs760897331	590	A>S		No	ClinGen ExAC gnomAD
CA296426946 COSM3937810 rs900105971	590	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA402020041 rs1468085658	594	E>D		No	ClinGen TOPMed gnomAD
rs757988261 CA8884198	594	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757988261 CA296426947	594	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1219376308 CA402020044	595	T>A		No	ClinGen gnomAD
CA8884199 rs763714235	596	P>H		No	ClinGen ExAC gnomAD
rs751049798 CA8884200	600	T>A		No	ClinGen ExAC TOPMed gnomAD
CA296426948 rs751049798	600	T>S		No	ClinGen ExAC TOPMed gnomAD
rs757294435 CA8884201	601	D>N		No	ClinGen ExAC gnomAD
rs1026549333 CA296426949	602	N>D		No	ClinGen TOPMed
CA402020100 rs142688706 CA8884204	604	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884203 rs142688706	604	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884205 rs780390681	607	M>T		No	ClinGen ExAC gnomAD
CA402020117 rs1279137774	607	M>V		No	ClinGen TOPMed gnomAD
rs1568321935 CA402020141	610	P>L		No	ClinGen Ensembl
CA8884206 rs749457566	610	P>S		No	ClinGen ExAC gnomAD
CA402020155 rs1343269116	612	H>Q		No	ClinGen TOPMed
CA402020152 rs1352152280	612	H>R		No	ClinGen gnomAD
CA8884228 rs778406585	620	V>F		No	ClinGen ExAC TOPMed gnomAD
CA402020229 rs1344169452	621	Y>C		No	ClinGen TOPMed gnomAD
CA402020230 rs1344169452	621	Y>S		No	ClinGen TOPMed gnomAD
CA402020248 rs1205648622	624	V>I		No	ClinGen gnomAD
rs1440388342 CA402020267	626	E>D		No	ClinGen gnomAD
TCGA novel	626	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747488097 CA8884229	627	E>K		No	ClinGen ExAC gnomAD
COSM180018 rs1237614240 CA402020285	629	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs762039398 CA8884230	629	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1237614240 CA402020283	629	R>S		No	ClinGen TOPMed gnomAD
CA402020298 rs1186057037	631	R>P		No	ClinGen TOPMed gnomAD
CA402020296 rs1186057037	631	R>Q	Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA296429746 rs201745703	636	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	641	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296429748 rs375664713	641	K>Q		No	ClinGen ESP TOPMed
rs1202478598 CA402020377	643	Y>H		No	ClinGen TOPMed
CA296429749 rs549612278	644	P>A		No	ClinGen 1000Genomes
CA8884237 rs140496334	644	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884238 rs200309598	647	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8884239 rs766297839	648	H>D		No	ClinGen ExAC gnomAD
CA8884240 rs199654722	648	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402020450 rs116531885	654	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116531885 CA8884241	654	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779143803 CA8884242	656	N>D		No	ClinGen ExAC TOPMed gnomAD
CA402020473 rs1302484046	658	Q>P		No	ClinGen gnomAD
TCGA novel	661	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	661	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296429750 rs866150776	666	P>L		No	ClinGen TOPMed
CA8884245 rs777723980	667	A>V		No	ClinGen ExAC gnomAD
rs1206314288 CA402020543	668	D>A		No	ClinGen TOPMed gnomAD
CA8884246 rs747073088	671	Q>H		No	ClinGen ExAC gnomAD
CA8884247 rs141276757	672	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs746276762 CA8884249	673	A>T		No	ClinGen ExAC gnomAD
COSM167690 CA8884250 rs770279168	673	A>V	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	674	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771687411 CA8884253	675	P>L		No	ClinGen ExAC gnomAD
CA402020592 rs1424648094	676	F>L		No	ClinGen TOPMed
CA402020609 rs1456884876	678	I>T		No	ClinGen gnomAD
rs1344894752 CA402020606	678	I>V		No	ClinGen gnomAD
rs142314634 CA296429751	679	G>S		No	ClinGen Ensembl
rs138889023 CA8884254	681	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390912331 CA402020645	683	T>I		No	ClinGen gnomAD
rs916183740 CA296429752	685	N>S		No	ClinGen Ensembl
CA296429753 rs751476599	686	G>R		No	ClinGen Ensembl
rs1329217346 CA402020692	690	T>A		No	ClinGen TOPMed gnomAD
rs1235168927 CA402020701	691	P>R		No	ClinGen gnomAD
CA402020718 rs766273942	694	P>H		No	ClinGen ExAC gnomAD
CA8884257 rs766273942	694	P>R		No	ClinGen ExAC gnomAD
CA8884259 rs759388622	695	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8884258 rs776515824	695	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs776515824 CA402020721	695	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs759388622 CA296429755	695	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1357858193 CA402020745	698	Y>C		No	ClinGen TOPMed
CA296429756 rs903216470	699	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	702	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765000599 CA8884260	706	S>G		No	ClinGen ExAC gnomAD
CA8884261 rs374669722	709	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321958254 CA402020828	710	G>E		No	ClinGen TOPMed
CA8884278 rs765121609	713	K>T		No	ClinGen ExAC gnomAD
CA296429852 rs985399690	714	I>M		No	ClinGen Ensembl
rs762789921 CA8884280	714	I>T		No	ClinGen ExAC TOPMed gnomAD
rs369899451 CA8884279	714	I>V		No	ClinGen ESP ExAC gnomAD
CA8884281 rs764263629	715	D>G		No	ClinGen ExAC TOPMed gnomAD
rs751801851 CA8884282	717	V>L		No	ClinGen ExAC gnomAD
rs1163765560 CA402020899	719	V>E		No	ClinGen gnomAD
rs1459430365 CA402020896	719	V>M		No	ClinGen gnomAD
TCGA novel	721	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884299 rs768485152	724	A>G		No	ClinGen ExAC gnomAD
CA8884298 rs762724586	724	A>P		No	ClinGen ExAC gnomAD
CA296433107 rs78604188	725	A>S		No	ClinGen Ensembl
rs772892539 CA296433108	726	T>A		No	ClinGen TOPMed gnomAD
rs1371038531 CA402021650	726	T>N		No	ClinGen TOPMed
rs772892539 CA402021648	726	T>S		No	ClinGen TOPMed gnomAD
rs560297021 CA8884300	727	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8884301 rs560297021	727	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402021665 rs1247471646	729	P>T		No	ClinGen gnomAD
CA402021696 rs1187713439	733	P>R		No	ClinGen TOPMed
TCGA novel	734	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884304 rs373023204	734	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8884306 rs754362101	735	K>T		No	ClinGen ExAC gnomAD
CA402021715 rs1184754484	736	Q>R		No	ClinGen TOPMed
CA402021722 rs1483597593	737	T>K		No	ClinGen TOPMed
CA402021737 rs1291634294	739	H>R		No	ClinGen TOPMed
TCGA novel	740	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402021758 rs1433608161	742	K>R		No	ClinGen gnomAD
CA8884310 rs756928147	744	A>S		No	ClinGen ExAC TOPMed gnomAD
rs371238833 CA8884311	747	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs745426552 CA8884312	748	A>T		No	ClinGen ExAC TOPMed gnomAD
CA402021793 rs1224345984	748	A>V		No	ClinGen gnomAD
TCGA novel	749	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327171672 CA402021801	749	G>V		No	ClinGen gnomAD
CA8884316 rs749263983 CA402021826	753	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780024742 CA8884314	753	F>S		No	ClinGen ExAC gnomAD
rs1302407298 CA402021830	754	V>A		No	ClinGen TOPMed
CA8884317 rs774231494 COSM212261	754	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	757	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402021858 rs1422657427	758	L>P		No	ClinGen TOPMed
CA8884319 rs762422870	760	V>F		No	ClinGen ExAC TOPMed gnomAD
rs773536787 CA8884320	761	V>L		No	ClinGen ExAC gnomAD
CA402021893 rs1457826955	764	M>I		No	ClinGen gnomAD
rs374147927 CA402021892	764	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374147927 CA8884322	764	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760900169 CA8884321	764	M>V		No	ClinGen ExAC gnomAD
CA296433109 rs1022805327	766	K>E		No	ClinGen Ensembl
CA8884323 rs753799815	767	R>G		No	ClinGen ExAC gnomAD
TCGA novel	770	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776801150 CA8884341	772	K>R		No	ClinGen ExAC gnomAD
rs759516477 CA8884342	773	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA295816024 rs540832088	776	T>S		No	ClinGen 1000Genomes
rs549737526 CA8884344 CA295816041	777	M>I		No	ClinGen ExAC TOPMed gnomAD
rs765815875 CA8884343	777	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401852513 rs1471533629	778	S>N		No	ClinGen gnomAD
rs763369338 CA8884345	778	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1445731735 CA401852555	781	R>*		No	ClinGen gnomAD
CA401852554 rs1445731735	781	R>G		No	ClinGen gnomAD
CA8884347 rs371291461	781	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	784	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401852625 rs1311822360	786	V>M		No	ClinGen gnomAD
rs765897923 COSM990176 CA8884349	787	M>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA401852640 rs1319537131	787	M>V		No	ClinGen gnomAD
TCGA novel	797	E>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401852768 rs1304617802	801	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	802	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884353 CA401852787 rs143808742	803	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8884351 COSM1158184 rs754414099	803	D>N	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8884354 rs569455729	804	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs777712859 CA8884355	805	A>P		No	ClinGen ExAC TOPMed gnomAD
rs147989230 CA8884356	809	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1036433917 CA295816128	809	M>T		No	ClinGen Ensembl
rs1209143571 CA401852832	810	D>G		No	ClinGen TOPMed
CA8884357 rs771237338	810	D>N		No	ClinGen ExAC TOPMed gnomAD
rs143442690 CA8884358	811	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401852846 rs1328068146	812	H>R		No	ClinGen TOPMed
CA8884360 rs147131807	814	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs199528199 CA8884361	817	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA401852901 rs1329129324	819	V>E		No	ClinGen gnomAD
rs1322714794 CA401852898	819	V>M		No	ClinGen gnomAD
rs148220369 CA295818123	823	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148220369 CA8884386	823	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8884387 rs148220369	823	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401852940 rs1413455622	826	T>A		No	ClinGen TOPMed
rs1376611117 CA401852950	827	M>I		No	ClinGen gnomAD
rs764901041 CA401852949	827	M>R		No	ClinGen ExAC gnomAD
rs764901041 CA8884389	827	M>T		No	ClinGen ExAC gnomAD
CA401852962 rs1270623996	829	T>A		No	ClinGen Ensembl
CA401852964 rs1226073485	829	T>K		No	ClinGen gnomAD
CA401853009 rs1289709560	836	V>A		No	ClinGen gnomAD
CA8884392 rs764197090	836	V>M		No	ClinGen ExAC gnomAD
CA8884393 rs201797214	838	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs142726956 CA8884394	840	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs142726956 CA401853034	840	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	841	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884477 rs201319384	843	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs750193639 CA8884396	843	D>H		No	ClinGen ExAC gnomAD
rs751741583 CA8884478	846	H>R		No	ClinGen ExAC gnomAD
CA401853483 rs1459804585	847	T>I		No	ClinGen TOPMed
rs1338637123 CA401853484	848	M>V		No	ClinGen gnomAD
rs761957128 CA8884479	849	A>S		No	ClinGen ExAC gnomAD
rs761957128 CA401853493	849	A>T		No	ClinGen ExAC gnomAD
TCGA novel	850	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557122151 CA8884481	851	D>N		No	ClinGen ExAC TOPMed gnomAD
rs906560989 CA295820224	852	T>I		No	ClinGen TOPMed
CA295820227 rs765155422	853	S>G		No	ClinGen gnomAD
CA8884482 rs756517300	854	S>G		No	ClinGen ExAC gnomAD
rs780468173 CA8884483	856	V>L		No	ClinGen ExAC gnomAD
rs1462127344 CA401853549	857	Q>H		No	ClinGen gnomAD
rs1265572220 CA401853546	857	Q>R		No	ClinGen gnomAD
CA8884484 rs754107358	858	S>F		No	ClinGen ExAC gnomAD
CA295820234 rs939324986	858	S>P		No	ClinGen TOPMed
rs777268750 CA8884486	859	H>P		No	ClinGen ExAC gnomAD
CA8884488 rs186897065	860	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401853567 rs1601490201	861	Y>H		No	ClinGen Ensembl
rs971286558 CA295820242	862	K>E		No	ClinGen TOPMed gnomAD
CA401853578 rs1435098725	862	K>R		No	ClinGen gnomAD
rs780624294 CA8884489	864	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs150784148 CA8884490	864	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA401853593 rs1274276304	865	E>Q		No	ClinGen TOPMed
rs775378128 CA401853600	866	P>A		No	ClinGen ExAC gnomAD
CA8884493 rs367853227	866	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8884492 rs775378128	866	P>T		No	ClinGen ExAC gnomAD
rs774714198 CA8884495	867	A>T		No	ClinGen ExAC gnomAD
rs139142605 CA8884497	868	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200364748 COSM4131113 CA401853616	869	V>L	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs200364748 COSM1389904 CA8884499	869	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754278328 CA8884501	871	Y>H		No	ClinGen ExAC gnomAD
CA295820273 rs965050707	872	Q>H		No	ClinGen TOPMed
rs755265443 CA8884502	873	T>A		No	ClinGen ExAC gnomAD
rs763801435 CA8884503	873	T>I		No	ClinGen ExAC gnomAD
rs1479566494 CA401853648	874	G>E		No	ClinGen TOPMed gnomAD
CA8884504 rs751197697	875	Q>H		No	ClinGen ExAC gnomAD
CA401853659 rs1469634777	876	L>V		No	ClinGen gnomAD
CA401853669 rs1601490604	877	H>P		No	ClinGen Ensembl
TCGA novel	879	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884506 rs780713806	880	I>N		No	ClinGen ExAC TOPMed gnomAD
rs369286288 CA8884510	881	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369286288 CA8884509	881	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884508 rs756126322 COSM180037	881	R>W	large_intestine Variant assessed as Somatic; 4.693e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA401853702 rs1334664347	883	A>V		No	ClinGen gnomAD
rs953974998 CA295820303	884	D>H		No	ClinGen TOPMed gnomAD
CA8884512 rs373302758	890	T>A		No	ClinGen ESP ExAC gnomAD
rs748383956 CA8884513	891	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	892	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM460085 CA8884514 rs772376069	894	C>Y	cervix [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773443231 CA8884515	895	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1447385666 CA401853789	896	E>K		No	ClinGen gnomAD
rs1437344011 CA401853799	897	G>A		No	ClinGen gnomAD
CA8884519 rs760002009	899	G>D		No	ClinGen ExAC gnomAD
rs776998857 CA8884518	899	G>S		No	ClinGen ExAC TOPMed gnomAD
CA401853821 rs1162755013	901	K>E		No	ClinGen gnomAD
rs1231849835 CA401853827	901	K>N		No	ClinGen TOPMed
TCGA novel	902	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1048592418 CA295820315	902	E>K		No	ClinGen Ensembl
CA401853845 rs1372850592	904	Y>H		No	ClinGen TOPMed
TCGA novel	904	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884522 rs113710989	905	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8884544 rs753346418	906	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8884543 rs765814304	906	S>G		No	ClinGen ExAC gnomAD
CA401851368 rs1225506098	907	F>C		No	ClinGen gnomAD
rs1326126704 CA401851365	907	F>I		No	ClinGen gnomAD
CA8884547 rs752579044	915	W>C		No	ClinGen ExAC gnomAD
rs144207270 CA8884548	917	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8884549 rs144207270	917	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750955982 CA8884551	921	D>E		No	ClinGen ExAC gnomAD
CA401851488 rs990397990	924	R>K		No	ClinGen TOPMed gnomAD
CA295819796 rs990397990	924	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1260773767 CA401851528	929	Y>C		No	ClinGen gnomAD
CA401851532 rs1194899995	930	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8884553 rs745926582	931	N>Y		No	ClinGen ExAC
TCGA novel	933	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276587153 CA401851557	933	I>S		No	ClinGen TOPMed
CA401851553 rs1479843988	933	I>V		No	ClinGen gnomAD
rs1004054600	935	Y>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1361467547 CA401853077	936	D>Y		No	ClinGen gnomAD
rs1366108182 CA401853088	937	H>R		No	ClinGen TOPMed
rs780055249 CA8884573	939	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs146533378 CA8884574	944	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454163903 CA401853131	944	T>I		No	ClinGen TOPMed
CA8884576 rs774597471	945	I>V		No	ClinGen ExAC gnomAD
CA401853147 rs1251364205	947	G>R		No	ClinGen TOPMed
CA401853162 rs1240985069	949	T>A		No	ClinGen TOPMed gnomAD
rs776418901 CA8884580	958	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	959	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884581 rs759175258	959	I>T		No	ClinGen ExAC TOPMed gnomAD
CA401853233 rs1270515242	959	I>V		No	ClinGen gnomAD
rs141320392 CA8884582	960	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA8884583 rs775072197	960	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	964	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884598 rs182968102	964	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401853347 rs1321342692	965	P>T		No	ClinGen TOPMed
TCGA novel	965	P>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884600 rs773653490	966	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1450235096 CA401853372	968	Y>C		No	ClinGen gnomAD
CA8884601 rs745517522	970	A>G		No	ClinGen ExAC gnomAD
CA295828760 rs199914133	971	T>I		No	ClinGen 1000Genomes
rs1379518391 CA401853402	973	G>W		No	ClinGen TOPMed gnomAD
CA295831642 rs939293374	975	M>T		No	ClinGen Ensembl
rs1302067199 CA401854020	975	M>V		No	ClinGen gnomAD
CA401854050 rs1278349731	979	I>V		No	ClinGen TOPMed
CA8884624 rs769612880	980	Y>C		No	ClinGen ExAC gnomAD
rs1412213301 CA401854057	980	Y>H		No	ClinGen TOPMed
rs1351529372 CA401854077	982	F>L		No	ClinGen TOPMed
rs141406581 COSM1287471 CA295831645	983	W>C	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1056187928 CA295831649	984	R>S		No	ClinGen Ensembl
CA401854106 rs1568789581	986	V>A		No	ClinGen Ensembl
rs1568789581 CA401854107	986	V>G		No	ClinGen Ensembl
CA8884625 rs201637783	988	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884628 rs773672382	990	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1356204356 CA401854152	993	S>G		No	ClinGen gnomAD
rs903498890 CA295831668	994	I>V		No	ClinGen Ensembl
CA295831672 rs999571233	995	I>V		No	ClinGen Ensembl
rs771951736 CA8884630	999	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1489889035 CA401854199	1000	L>I		No	ClinGen gnomAD
rs1201050781 CA401854233	1005	R>K		No	ClinGen gnomAD
TCGA novel	1005	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401854303 rs1383056573	1009	C>S		No	ClinGen gnomAD
rs374954998 CA8884652	1010	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA401854363 rs1343842929	1012	W>C		No	ClinGen gnomAD
TCGA novel	1013	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776221430 CA8884654	1014	D>V		No	ClinGen ExAC TOPMed gnomAD
rs71362023 CA8884656	1016	T>A		No	ClinGen ExAC TOPMed gnomAD
CA295842470 rs71362023	1016	T>P		No	ClinGen ExAC TOPMed gnomAD
CA8884655 rs71362023	1016	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8884658 rs752863784	1017	E>A		No	ClinGen ExAC TOPMed gnomAD
rs752863784 CA8884657	1017	E>G		No	ClinGen ExAC TOPMed gnomAD
CA295842475 rs906394213	1017	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1403044934 CA401854424	1018	I>L		No	ClinGen gnomAD
CA401854432 rs1448044959	1018	I>T		No	ClinGen gnomAD
rs764757253 CA295842485	1019	Y>D		No	ClinGen ExAC gnomAD
rs764757253 CA8884659	1019	Y>H		No	ClinGen ExAC gnomAD
rs752127211 CA8884660	1024	V>I		No	ClinGen ExAC gnomAD
CA401854523 rs1247262517	1025	T>A		No	ClinGen gnomAD
rs1284938180 CA401854528	1025	T>I		No	ClinGen gnomAD
CA401854553 rs1294570774	1027	I>T		No	ClinGen TOPMed
CA295842489 rs551645103	1030	E>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1259966292 CA401854629	1033	A>S		No	ClinGen gnomAD
CA8884661 rs369142938	1037	I>M		No	ClinGen ESP ExAC gnomAD
TCGA novel	1038	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1039	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202866544 CA401854719	1039	T>I		No	ClinGen gnomAD
CA401854959 rs1313859672	1046	G>A		No	ClinGen gnomAD
rs1233778670 CA401854970	1048	H>P		No	ClinGen TOPMed gnomAD
CA401854971 rs1233778670	1048	H>R		No	ClinGen TOPMed gnomAD
rs893031110 CA295844337	1052	E>G		No	ClinGen Ensembl
rs774536356 CA8884678	1052	E>K		No	ClinGen ExAC gnomAD
rs774536356 CA401854996	1052	E>Q		No	ClinGen ExAC gnomAD
CA8884679 rs762435419	1053	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8884680 rs530385681	1054	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA401855029 rs750843900	1057	H>N		No	ClinGen ExAC gnomAD
CA8884681 rs750843900	1057	H>Y		No	ClinGen ExAC gnomAD
CA8884682 rs756427070	1059	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1363731923 CA401855054	1060	G>A		No	ClinGen TOPMed gnomAD
rs1598494996 CA401855065	1062	P>A		No	ClinGen Ensembl
CA8884684 rs140538440	1063	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA401855075 rs1435418362	1063	D>E		No	ClinGen gnomAD
rs140538440 CA401855073	1063	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA401855096 rs1598495078	1066	V>G		No	ClinGen Ensembl
rs61737157 CA295844364	1067	P>A		No	ClinGen gnomAD
rs757976472 CA8884685	1067	P>L		No	ClinGen ExAC gnomAD
CA401855098 rs61737157	1067	P>S		No	ClinGen gnomAD
CA8884686 rs777294863	1068	Y>H		No	ClinGen ExAC gnomAD
rs1338376456 CA401855112	1069	H>R		No	ClinGen gnomAD
rs746471782 CA8884687	1069	H>Y		No	ClinGen ExAC
CA8884688 rs757234403	1070	A>V		No	ClinGen ExAC gnomAD
CA401855125 rs1555891513	1071	T>I		No	ClinGen Ensembl
rs769491567 CA8884691	1072	G>D		No	ClinGen ExAC gnomAD
CA8884690 rs138337205	1072	G>S	Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs749556273 CA8884693	1075	G>A		No	ClinGen ExAC gnomAD
CA8884694 rs772915886	1076	F>L		No	ClinGen ExAC gnomAD
rs142600347 CA295844397	1077	V>M		No	ClinGen ESP TOPMed gnomAD
CA8884697 rs775702343	1078	R>Q		No	ClinGen ExAC gnomAD
CA295844403 rs868795801	1078	R>W		No	ClinGen gnomAD
CA401855173 rs1238052890	1080	V>G		No	ClinGen gnomAD
rs1209567838 CA401855168	1080	V>I		No	ClinGen TOPMed
CA8884699 rs761183746	1081	K>N		No	ClinGen ExAC gnomAD
rs963667121 CA295844409	1082	S>C		No	ClinGen Ensembl
TCGA novel	1083	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766654813 CA8884700	1085	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8884703 rs564023971	1087	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8884702 rs564023971	1087	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1162859448 CA401855222	1088	A>E		No	ClinGen gnomAD
rs1162859448 CA401855223	1088	A>V		No	ClinGen gnomAD
TCGA novel	1104	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756056968 CA8884727	1104	C>W		No	ClinGen ExAC gnomAD
CA8884728 rs555602992	1105	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8884729 rs753756651	1106	I>T		No	ClinGen ExAC TOPMed gnomAD
rs751046402 CA8884731	1107	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1108	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401855358 rs1598496946	1108	I>L		No	ClinGen Ensembl
CA401855374 rs1483691838	1110	I>F		No	ClinGen gnomAD
rs201576055 CA401855377	1110	I>S		No	ClinGen TOPMed gnomAD
rs201576055 CA295844613	1110	I>T		No	ClinGen TOPMed gnomAD
rs1261135380 CA401855382	1111	M>T		No	ClinGen gnomAD
rs1020660207 CA295844617	1111	M>V		No	ClinGen Ensembl
CA295844621 rs1051958687	1113	D>Y		No	ClinGen TOPMed gnomAD
rs200105528 CA295844623	1115	A>G		No	ClinGen gnomAD
CA8884733 rs772294333	1116	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8884735 rs777736320	1117	R>T		No	ClinGen ExAC gnomAD
CA401855438 rs1359448390	1119	G>E		No	ClinGen gnomAD
CA8884737 rs771382024	1119	G>R		No	ClinGen ExAC gnomAD
CA401855446 rs1598497130	1120	V>G		No	ClinGen Ensembl
CA8884739 rs370532691	1121	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1215932734 CA401855461	1123	I>V		No	ClinGen TOPMed
CA295844671 rs573850662	1124	Y>H		No	ClinGen 1000Genomes
CA401855475 rs1400032790	1125	N>D		No	ClinGen gnomAD
rs770149061 CA8884740	1125	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM438413 CA8884742 rs761396528	1127	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8884743 rs375157478	1129	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs760232949 CA8884745	1133	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8884744 rs772640308	1133	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1598497342 CA401855539	1135	V>G		No	ClinGen Ensembl
rs778170673 CA295844697	1137	M>V		No	ClinGen Ensembl
CA295844704 rs1007772156	1140	T>A		No	ClinGen TOPMed
CA401855570 rs1007772156	1140	T>S		No	ClinGen TOPMed
CA401855695 rs1419659796	1142	E>A		No	ClinGen TOPMed gnomAD
rs1175284030 CA401855739	1145	V>M		No	ClinGen gnomAD
rs544915685 CA8884767	1147	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544915685 CA8884766	1147	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150536364 CA8884765	1147	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
rs758207158 CA8884770	1149	D>E		No	ClinGen ExAC gnomAD
CA8884769 rs752473315	1149	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8884771 rs764281560	1150	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1307518880 CA401855807	1151	I>T		No	ClinGen gnomAD
rs1240044870 CA401855853	1156	L>V		No	ClinGen gnomAD
rs1369617288 CA401855878	1158	G>A		No	ClinGen TOPMed gnomAD
rs757432175 CA8884773	1160	T>I		No	ClinGen ExAC gnomAD
CA8884775 rs745928508	1162	V>A		No	ClinGen ExAC gnomAD
rs1290561945 CA401855915	1162	V>M		No	ClinGen gnomAD
rs560395800 CA8884778	1163	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA401855923 rs1234949195	1164	A>T		No	ClinGen TOPMed
CA401855933 rs1407423822	1165	S>C		No	ClinGen gnomAD
CA401855971 rs1458003086	1169	S>C		No	ClinGen gnomAD
TCGA novel	1169	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401856002 rs1366313632	1172	Y>C		No	ClinGen gnomAD
CA401856016 rs1473518832	1173	D>E		No	ClinGen gnomAD
CA295845391 rs1054913706	1173	D>Y		No	ClinGen Ensembl
TCGA novel	1174	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1174	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774507652 CA8884780	1175	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8884781 rs746687432	1176	K>R		No	ClinGen ExAC gnomAD
rs377399315 CA8884782	1178	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1376151430 CA401856071	1179	P>A		No	ClinGen gnomAD
CA8884784 rs759083584	1186	I>M		No	ClinGen ExAC gnomAD
TCGA novel	1187	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884786 rs202020478	1191	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8884785 rs769686005	1191	R>W		No	ClinGen ExAC gnomAD
CA295845891 rs932201261	1193	L>I		No	ClinGen Ensembl
rs1055455488 CA295845900	1199	T>A		No	ClinGen TOPMed
CA8884812 rs760825169	1199	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8884814 rs753808081	1201	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8884816 rs779254641	1202	V>A		No	ClinGen ExAC gnomAD
CA8884818 rs758820908	1205	C>Y		No	ClinGen ExAC gnomAD
CA8884819 rs778224975	1206	S>G		No	ClinGen ExAC gnomAD
CA8884820 rs745519564	1207	I>T		No	ClinGen ExAC gnomAD
rs779665748 CA295845961	1208	A>P		No	ClinGen ExAC TOPMed gnomAD
rs779665748 CA8884822	1208	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1020421872 CA295845969	1212	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs558883755 CA295845966	1212	R>W		No	ClinGen TOPMed gnomAD
CA401857055 rs1234708819	1213	N>S		No	ClinGen gnomAD
CA8884823 rs748718632	1214	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1215	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548848110 CA8884826	1218	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774261650 CA8884825	1218	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1209789947 CA401857148	1219	C>Y		No	ClinGen gnomAD
CA401857161 rs772947258	1220	M>L		No	ClinGen ExAC TOPMed gnomAD
rs760970082 CA8884829	1220	M>R		No	ClinGen ExAC TOPMed gnomAD
CA401857164 rs760970082	1220	M>T		No	ClinGen ExAC TOPMed gnomAD
COSM39745 CA8884828 rs772947258	1220	M>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA295846000 rs1008444411	1221	D>N		No	ClinGen TOPMed gnomAD
rs766485177 CA8884830	1222	I>V		No	ClinGen ExAC gnomAD
CA8884832 rs759528828	1225	P>L		No	ClinGen ExAC gnomAD
rs1598510251 CA401857232	1226	D>A		No	ClinGen Ensembl
rs765900894 CA8884833	1227	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753269616 CA8884834	1227	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs964032193 CA295846010	1228	C>Y		No	ClinGen TOPMed
rs1392762837 CA401857281	1230	P>H		No	ClinGen gnomAD
rs1458706205 CA401857288	1231	F>Y		No	ClinGen TOPMed
rs148041950 CA295846015	1232	L>F		No	ClinGen ESP
rs1374290388 CA401857312	1235	I>V		No	ClinGen gnomAD
rs755832770 CA8884838	1236	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1212955204 CA401857337	1238	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401857382 rs1241950162	1244	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401857394 rs1264254991	1246	A>T		No	ClinGen gnomAD
CA8884840 rs748889473	1246	A>V		No	ClinGen ExAC gnomAD
rs1193042801 CA401857407	1248	M>T		No	ClinGen TOPMed
rs552851512	1249	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA401857443 rs1170865050	1251	Y>C		No	ClinGen gnomAD
rs1392900982 CA401857439	1251	Y>N		No	ClinGen TOPMed gnomAD
CA295846484 rs879244413	1252	K>E		No	ClinGen gnomAD
rs542317405 CA295846485	1255	S>A		No	ClinGen 1000Genomes
rs1464238217 CA401857508	1261	Q>*		No	ClinGen gnomAD
TCGA novel	1262	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884864 rs758375186	1267	T>A		No	ClinGen ExAC gnomAD
rs777686664 CA8884865	1267	T>I		No	ClinGen ExAC TOPMed gnomAD
CA401857575 rs1398810405	1270	D>E		No	ClinGen gnomAD
TCGA novel	1275	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746882126 CA8884866	1275	V>I		No	ClinGen ExAC gnomAD
rs770646364 CA8884867	1277	D>G		No	ClinGen ExAC gnomAD
rs150551288 CA295846490	1277	D>N		No	ClinGen ESP TOPMed
CA401857625 rs1364865262	1278	Y>C		No	ClinGen gnomAD
COSM708789 rs776926312 CA295846494	1279	H>Y	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1274151011 CA401857649	1281	T>I		No	ClinGen gnomAD
rs763119679 CA8884872	1283	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8884870 rs770118108	1283	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770118108 CA8884871	1283	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8884873 rs769342771	1284	V>I		No	ClinGen ExAC gnomAD
CA8884874 rs774730448	1285	M>T		No	ClinGen ExAC gnomAD
rs933255444 CA295846521	1287	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8884875 rs762311310	1288	D>E		No	ClinGen ExAC gnomAD
rs1261015545 CA401857689	1288	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	1292	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145148672 CA295846535	1293	Q>R		No	ClinGen Ensembl
rs1289123823 CA401858048	1296	P>L		No	ClinGen gnomAD
TCGA novel	1299	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8884912 rs749550095	1302	N>D		No	ClinGen ExAC gnomAD
rs1373942453 CA401858146	1303	G>A		No	ClinGen TOPMed
CA8884914 rs778904652	1303	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1598537378 CA401858159	1304	V>G		No	ClinGen Ensembl
rs1003279880 CA295848384	1304	V>I		No	ClinGen Ensembl
rs1457112800 CA401858176	1305	H>P		No	ClinGen gnomAD
rs368817148 CA8884916	1308	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1310	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1311	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401858296 rs1320770519	1312	V>A		No	ClinGen TOPMed gnomAD
rs759636883 CA295848393	1315	V>A		No	ClinGen Ensembl
rs771291765 CA8884919	1321	E>K		No	ClinGen ExAC TOPMed gnomAD
rs959170032 CA295848432	1322	D>E		No	ClinGen Ensembl
CA8884920 rs776941532	1325	S>G		No	ClinGen ExAC gnomAD
rs762617360 CA8884921	1327	I>T		No	ClinGen ExAC gnomAD
CA8884922 rs763780476	1328	F>V		No	ClinGen ExAC
CA8884924 rs761371811	1329	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8884925 rs766878745	1329	R>H		No	ClinGen ExAC gnomAD
CA295848453 rs140015121	1330	I>V		No	ClinGen ESP TOPMed
rs149805385 CA8884926	1331	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1283676429 CA401858641	1332	N>S		No	ClinGen gnomAD
CA8884928 rs376568665	1334	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273693504 CA401858683	1335	R>K		No	ClinGen gnomAD
rs1598551015 CA401859079	1337	Q>E		No	ClinGen Ensembl
TCGA novel	1337	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375161299 CA401859099	1339	G>V		No	ClinGen gnomAD
rs1420807580 CA401859104	1340	Y>C		No	ClinGen TOPMed
CA295849624 rs563559000	1341	R>Q		No	ClinGen Ensembl
rs746302735 CA8884958	1341	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs890339647 CA295849627	1342	M>K		No	ClinGen gnomAD
rs890339647 CA401859115	1342	M>R		No	ClinGen gnomAD
rs199876491 CA8884959	1343	V>G		No	ClinGen ExAC gnomAD
rs780239038 CA8884960	1344	Q>E		No	ClinGen ExAC gnomAD
rs780239038 CA8884961	1344	Q>K		No	ClinGen ExAC gnomAD
CA8884962 rs771824856	1344	Q>P		No	ClinGen ExAC gnomAD
CA401859125 rs771824856	1344	Q>R		No	ClinGen ExAC gnomAD
rs772885907 CA8884963	1345	Q>P		No	ClinGen ExAC
rs760262069 CA8884964	1346	F>I		No	ClinGen ExAC gnomAD
rs1598551211 CA401859163	1349	L>R		No	ClinGen Ensembl
CA8884966 rs148525659	1352	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1352	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208478086 CA401859190	1353	M>I		No	ClinGen TOPMed
CA8884968 rs765114004	1354	Y>H		No	ClinGen ExAC
CA8884969 rs752387436	1355	R>S		No	ClinGen ExAC gnomAD
CA8884970 rs763285013	1356	D>V		No	ClinGen ExAC gnomAD
rs1300872564 CA401859208	1356	D>Y		No	ClinGen gnomAD
CA401859223 rs1444439416 COSM1750600	1358	P>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8884973 rs200406943	1360	S>F		No	ClinGen 1000Genomes ExAC
rs1284699830 CA401859236	1361	K>E		No	ClinGen gnomAD
rs1484578319 CA401859240	1361	K>R		No	ClinGen TOPMed gnomAD
CA401859246 rs1203924955 COSM3357053	1362	R>C	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs368926257 COSM1263501 CA8884974	1362	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368926257 CA401859248	1362	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8884976 rs756527215	1367	L>I		No	ClinGen ExAC TOPMed
CA401859285 rs1311241892	1368	I>F		No	ClinGen TOPMed gnomAD
rs142668687 CA8884978 COSM990192	1369	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8884979 COSM438414 rs145737173	1369	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs145737173 CA295849726	1369	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777557732 CA8884980	1370	Q>E		No	ClinGen ExAC gnomAD
rs746605958 CA8884981	1371	V>L		No	ClinGen ExAC gnomAD
rs1451673476 CA401859322	1374	W>R		No	ClinGen gnomAD
rs770571802 CA8884982	1376	E>G		No	ClinGen ExAC gnomAD
CA401859351 rs593978 CA401859350	1377	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775967240 CA8884983	1377	E>K		No	ClinGen ExAC TOPMed
TCGA novel	1378	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401859364 rs1386066009	1379	N>S		No	ClinGen TOPMed gnomAD
CA401859374 rs1372831979	1381	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401859383 rs1598551802	1382	E>G		No	ClinGen Ensembl
CA8884986 rs775394755	1382	E>K		No	ClinGen ExAC gnomAD
rs762652996 CA8884987	1384	R>C		No	ClinGen ExAC gnomAD
CA8884988 rs763817831	1384	R>H		No	ClinGen ExAC gnomAD
CA8884989 rs751784715	1385	T>M		No	ClinGen ExAC gnomAD
CA8884993 rs756682590	1386	V>G		No	ClinGen ExAC gnomAD
CA8884992 rs750445255	1386	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1387	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1390	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1390	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401860744 rs754309737 CA401860747	1391	N>K		No	ClinGen ExAC TOPMed gnomAD
rs755503991 CA8885014	1392	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8885015 rs765723090	1393	G>E		No	ClinGen ExAC gnomAD
CA401860770 rs1457258800	1393	G>R		No	ClinGen TOPMed
rs753091710 CA8885016	1395	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8885017 rs576708975	1395	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8885019 rs745441982	1396	S>G		No	ClinGen ExAC gnomAD
rs755582680 CA8885020	1396	S>T		No	ClinGen ExAC gnomAD
CA8885021 rs779575750	1398	T>A		No	ClinGen ExAC gnomAD
rs1357908007 CA401860864	1398	T>M		No	ClinGen TOPMed gnomAD
CA401860895 rs1295317797	1399	F>L		No	ClinGen gnomAD
rs1306072871 CA401860909	1400	C>Y		No	ClinGen gnomAD
CA8885025 rs142178302 COSM177560	1401	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1485412409 CA401860964	1403	S>N		No	ClinGen gnomAD
CA401860985 rs150131530	1404	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370764192 CA295853772	1404	I>V		No	ClinGen ESP
rs370769923 CA8885028	1405	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370769923 CA401860992 CA8885027	1405	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245437360 CA401861006	1406	C>R		No	ClinGen TOPMed
CA8885030 rs776806818	1410	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8885029 rs766403029	1410	R>W		No	ClinGen ExAC gnomAD
CA8885031 rs137986716	1411	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3821785 CA8885032 rs765809357	1412	Q>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs375556356 CA8885035	1415	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401861216 rs368527318	1420	A>S		No	ClinGen ESP TOPMed gnomAD
rs368527318 CA295853830	1420	A>T		No	ClinGen ESP TOPMed gnomAD
rs1555900662 CA401861237	1422	K>E		No	ClinGen Ensembl
rs754972531 CA8885040	1424	L>V		No	ClinGen ExAC gnomAD
CA8885043 rs771772393	1427	N>H		No	ClinGen ExAC gnomAD
rs777589520 CA8885044	1428	K>E		No	ClinGen ExAC gnomAD
rs747222472 CA8885045	1430	N>D		No	ClinGen ExAC gnomAD
CA8885046 rs771166003	1431	M>T		No	ClinGen ExAC gnomAD
rs968156500 CA295853877	1431	M>V		No	ClinGen gnomAD
TCGA novel	1432	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401861371 rs1240253876	1432	V>I		No	ClinGen gnomAD
rs1394174594 CA401861394	1433	D>E		No	ClinGen gnomAD
CA8885047 COSM246884 rs776891363	1433	D>N	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA295853887 rs978071085	1434	L>V		No	ClinGen TOPMed
TCGA novel	1436	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8885064 rs781554415	1439	K>M		No	ClinGen ExAC gnomAD
CA8885065 rs373864600	1441	C>S		No	ClinGen ESP ExAC gnomAD
rs1160490933 CA401853927	1443	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1457003791 CA401853935	1444	V>M		No	ClinGen TOPMed
rs549858445 CA8885067	1452	G>D		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with P28827

17 regional properties for P28827

Type	Name	Position	InterPro Accession
domain	Tyrosine-specific protein phosphatase, PTPase domain	899 - 1156	IPR000242-1
domain	Tyrosine-specific protein phosphatase, PTPase domain	1185 - 1450	IPR000242-2
domain	Tyrosine-specific protein phosphatases domain	1071 - 1145	IPR000387-1
domain	Tyrosine-specific protein phosphatases domain	1362 - 1439	IPR000387-2
domain	MAM domain	22 - 184	IPR000998
domain	Protein-tyrosine phosphatase, catalytic	1052 - 1153	IPR003595-1
domain	Protein-tyrosine phosphatase, catalytic	1342 - 1447	IPR003595-2
domain	Immunoglobulin subtype	191 - 279	IPR003599
domain	Fibronectin type III	281 - 379	IPR003961-1
domain	Fibronectin type III	380 - 480	IPR003961-2
domain	Fibronectin type III	482 - 587	IPR003961-3
domain	Fibronectin type III	586 - 712	IPR003961-4
domain	Immunoglobulin-like domain	186 - 277	IPR007110
domain	Immunoglobulin	192 - 268	IPR013151
active_site	Protein-tyrosine phosphatase, active site	1093 - 1103	IPR016130-1
active_site	Protein-tyrosine phosphatase, active site	1387 - 1397	IPR016130-2
domain	Receptor-type tyrosine-protein phosphatase mu, PTPase domain, repeat 1	884 - 1156	IPR045911

Functions

		Description
EC Number	3.1.3.48	Phosphoric monoester hydrolases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	Localizes in regions of cell-cell contact
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
intracellular non-membrane-bounded organelle	Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
identical protein binding	Binding to an identical protein or proteins.
protein tyrosine phosphatase activity	Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
transmembrane receptor protein tyrosine phosphatase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

10 GO annotations of biological process

Name	Definition
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.
negative regulation of angiogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of endothelial cell migration	Any process that decreases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
negative regulation of endothelial cell proliferation	Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation.
neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
retina layer formation	The process in which the vertebrate retina is organized into three laminae: the outer nuclear layer (ONL), which contains photoreceptor nuclei; the inner nuclear layer (INL), which contains amacrine, bipolar and horizontal cells; and the retinal ganglion cell (RGC) layer. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells. The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells. Spanning all layers of the retina are the radially oriented Mueller glia.
retinal ganglion cell axon guidance	The process in which the migration of an axon growth cone of a retinal ganglion cell (RGC) is directed to its target in the brain in response to a combination of attractive and repulsive cues.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P08575	PTPRC	Receptor-type tyrosine-protein phosphatase C	Homo sapiens (Human)	PR
Q15262	PTPRK	Receptor-type tyrosine-protein phosphatase kappa	Homo sapiens (Human)	PR
P10586	PTPRF	Receptor-type tyrosine-protein phosphatase F	Homo sapiens (Human)	PR
P23468	PTPRD	Receptor-type tyrosine-protein phosphatase delta	Homo sapiens (Human)	PR
Q13332	PTPRS	Receptor-type tyrosine-protein phosphatase S	Homo sapiens (Human)	PR
P43378	PTPN9	Tyrosine-protein phosphatase non-receptor type 9	Homo sapiens (Human)	PR
P49446	Ptpre	Receptor-type tyrosine-protein phosphatase epsilon	Mus musculus (Mouse)	PR
Q64487	Ptprd	Receptor-type tyrosine-protein phosphatase delta	Mus musculus (Mouse)	PR
P35822	Ptprk	Receptor-type tyrosine-protein phosphatase kappa	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MRGLGTCLAT	LAGLLLTAAG	ETFSGGCLFD	EPYSTCGYSQ	SEGDDFNWEQ	VNTLTKPTSD
70	80	90	100	110	120
PWMPSGSFML	VNASGRPEGQ	RAHLLLPQLK	ENDTHCIDFH	YFVSSKSNSP	PGLLNVYVKV
130	140	150	160	170	180
NNGPLGNPIW	NISGDPTRTW	NRAELAISTF	WPNFYQVIFE	VITSGHQGYL	AIDEVKVLGH
190	200	210	220	230	240
PCTRTPHFLR	IQNVEVNAGQ	FATFQCSAIG	RTVAGDRLWL	QGIDVRDAPL	KEIKVTSSRR
250	260	270	280	290	300
FIASFNVVNT	TKRDAGKYRC	MIRTEGGVGI	SNYAELVVKE	PPVPIAPPQL	ASVGATYLWI
310	320	330	340	350	360
QLNANSINGD	GPIVAREVEY	CTASGSWNDR	QPVDSTSYKI	GHLDPDTEYE	ISVLLTRPGE
370	380	390	400	410	420
GGTGSPGPAL	RTRTKCADPM	RGPRKLEVVE	VKSRQITIRW	EPFGYNVTRC	HSYNLTVHYC
430	440	450	460	470	480
YQVGGQEQVR	EEVSWDTENS	HPQHTITNLS	PYTNVSVKLI	LMNPEGRKES	QELIVQTDED
490	500	510	520	530	540
LPGAVPTESI	QGSTFEEKIF	LQWREPTQTY	GVITLYEITY	KAVSSFDPEI	DLSNQSGRVS
550	560	570	580	590	600
KLGNETHFLF	FGLYPGTTYS	FTIRASTAKG	FGPPATNQFT	TKISAPSMPA	YELETPLNQT
610	620	630	640	650	660
DNTVTVMLKP	AHSRGAPVSV	YQIVVEEERP	RRTKKTTEIL	KCYPVPIHFQ	NASLLNSQYY
670	680	690	700	710	720
FAAEFPADSL	QAAQPFTIGD	NKTYNGYWNT	PLLPYKSYRI	YFQAASRANG	ETKIDCVQVA
730	740	750	760	770	780
TKGAATPKPV	PEPEKQTDHT	VKIAGVIAGI	LLFVIIFLGV	VLVMKKRKLA	KKRKETMSST
790	800	810	820	830	840
RQEMTVMVNS	MDKSYAEQGT	NCDEAFSFMD	THNLNGRSVS	SPSSFTMKTN	TLSTSVPNSY
850	860	870	880	890	900
YPDETHTMAS	DTSSLVQSHT	YKKREPADVP	YQTGQLHPAI	RVADLLQHIT	QMKCAEGYGF
910	920	930	940	950	960
KEEYESFFEG	QSAPWDSAKK	DENRMKNRYG	NIIAYDHSRV	RLQTIEGDTN	SDYINGNYID
970	980	990	1000	1010	1020
GYHRPNHYIA	TQGPMQETIY	DFWRMVWHEN	TASIIMVTNL	VEVGRVKCCK	YWPDDTEIYK
1030	1040	1050	1060	1070	1080
DIKVTLIETE	LLAEYVIRTF	AVEKRGVHEI	REIRQFHFTG	WPDHGVPYHA	TGLLGFVRQV
1090	1100	1110	1120	1130	1140
KSKSPPSAGP	LVVHCSAGAG	RTGCFIVIDI	MLDMAEREGV	VDIYNCVREL	RSRRVNMVQT
1150	1160	1170	1180	1190	1200
EEQYVFIHDA	ILEACLCGDT	SVPASQVRSL	YYDMNKLDPQ	TNSSQIKEEF	RTLNMVTPTL
1210	1220	1230	1240	1250	1260
RVEDCSIALL	PRNHEKNRCM	DILPPDRCLP	FLITIDGESS	NYINAALMDS	YKQPSAFIVT
1270	1280	1290	1300	1310	1320
QHPLPNTVKD	FWRLVLDYHC	TSVVMLNDVD	PAQLCPQYWP	ENGVHRHGPI	QVEFVSADLE
1330	1340	1350	1360	1370	1380
EDIISRIFRI	YNAARPQDGY	RMVQQFQFLG	WPMYRDTPVS	KRSFLKLIRQ	VDKWQEEYNG
1390	1400	1410	1420	1430	1440
GEGRTVVHCL	NGGGRSGTFC	AISIVCEMLR	HQRTVDVFHA	VKTLRNNKPN	MVDLLDQYKF
1450
CYEVALEYLN	SG