AiPD: Autoinhibited Protein Database

Q9NYU2

Gene name	UGGT1
Protein name	UDP-glucose:glycoprotein glucosyltransferase 1
Names	UGT1, hUGT1, UDP--Glc:glycoprotein glucosyltransferase, UDP-glucose ceramide glucosyltransferase-like 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56886
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

135-218 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

135-218 (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 Q9NYU2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NYU2-F1	Predicted				AlphaFoldDB

1158 variants for Q9NYU2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs755207368 CA1865969	2	G>D		No	ClinGen ExAC gnomAD
rs866592669 CA55438686	4	K>N		No	ClinGen Ensembl
CA348451660 rs1255389370	5	G>R		No	ClinGen TOPMed
CA348451670 rs1573474532	6	D>G		No	ClinGen Ensembl
CA348451681 rs1385668347	8	S>G		No	ClinGen TOPMed gnomAD
CA1865971 rs748318163	8	S>N		No	ClinGen ExAC gnomAD
rs769978482 CA348451688	9	G>C		No	ClinGen ExAC gnomAD
rs769978482 CA1865972	9	G>R		No	ClinGen ExAC gnomAD
rs138106683 CA1865973	9	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs528339040 CA55438707	10	A>E		No	ClinGen gnomAD
rs1321313626 CA348451704	12	A>T		No	ClinGen gnomAD
CA1865974 rs749854741	14	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1364643102 CA348451716	14	G>S		No	ClinGen gnomAD
CA1865975 rs576164121	15	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA55438737 rs1046990722	16	L>Q		No	ClinGen Ensembl
TCGA novel	16	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348451735 rs1244656802	17	P>L		No	ClinGen gnomAD
CA348451734 rs1244656802	17	P>R		No	ClinGen gnomAD
CA1865977 rs759918733	19	T>I		No	ClinGen ExAC gnomAD
rs1369172831 CA348452331	20	G>A		No	ClinGen gnomAD
CA55441640 rs140632100	26	G>R		No	ClinGen ESP
CA348452451 rs1480424992	27	V>D		No	ClinGen gnomAD
CA55441655 rs968656783	27	V>L		No	ClinGen gnomAD
CA1866013 rs767389340	28	L>P		No	ClinGen ExAC gnomAD
rs142753574 CA55441658	28	L>V		No	ClinGen ESP
rs977374993 CA55441673	30	V>L		No	ClinGen Ensembl
rs1342588558 CA348452479	31	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	33	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361456821 CA348452514	36	L>P		No	ClinGen gnomAD
CA1866015 rs146826191	36	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866016 rs764160959	37	F>V		No	ClinGen ExAC gnomAD
rs534212253 CA1866019	38	S>C		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	39	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264201118 CA348452539	40	V>A		No	ClinGen gnomAD
rs1189694160 CA348452535	40	V>I		No	ClinGen TOPMed gnomAD
rs1189694160 CA348452536	40	V>L		No	ClinGen TOPMed gnomAD
rs1388726735 CA348452561	43	D>N		No	ClinGen gnomAD
rs75644058 CA55441702	44	S>*		No	ClinGen Ensembl
CA1866023 rs780490701	46	A>S		No	ClinGen ExAC gnomAD
CA348452595 rs780490701	46	A>T		No	ClinGen ExAC gnomAD
rs1348789674 CA348452602	46	A>V		No	ClinGen TOPMed gnomAD
rs747279717 CA1866024	47	I>V		No	ClinGen ExAC
rs1288828011 CA348452624	49	T>A		No	ClinGen TOPMed
rs915625216 CA55441713	49	T>S		No	ClinGen Ensembl
rs1353377018 CA348452636	50	S>C		No	ClinGen TOPMed gnomAD
CA348452642 rs1439424995	51	L>V		No	ClinGen TOPMed gnomAD
rs144422433 CA1866026	52	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144422433 CA1866025	52	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348452693 rs1365390868	55	W>C		No	ClinGen gnomAD
rs1355763408 CA348452686	55	W>L		No	ClinGen TOPMed
rs1299437026 CA348452706	57	S>A		No	ClinGen gnomAD
rs373589457 CA55441718	57	S>F		No	ClinGen Ensembl
rs748928955 CA1866027	58	T>I		No	ClinGen ExAC gnomAD
CA55441724 rs918876883	60	L>W		No	ClinGen TOPMed gnomAD
CA348452769 rs1289149695	63	E>G		No	ClinGen gnomAD
TCGA novel	66	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	70	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	71	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1310853472 CA348453193	72	S>N		No	ClinGen gnomAD
CA348453201 rs1207914892	73	Q>K		No	ClinGen TOPMed gnomAD
CA1866057 rs765499364	74	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348453306 rs1309530916	81	E>G		No	ClinGen TOPMed
CA1866058 rs750521553	82	A>T		No	ClinGen ExAC TOPMed gnomAD
CA348453325 rs1380378647	83	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348453331 rs1247969978	83	S>R		No	ClinGen gnomAD
rs766470703 CA1866060	86	I>T		No	ClinGen ExAC gnomAD
rs993315124 CA55444946	86	I>V		No	ClinGen TOPMed gnomAD
CA1866061 rs752058222	89	S>L		No	ClinGen ExAC gnomAD
CA348453397 rs1171905422	90	D>H		No	ClinGen gnomAD
rs918109556 CA55444957	91	H>D		No	ClinGen Ensembl
rs755482688 CA1866062	91	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1866063 rs149221713	92	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs565045862 CA348453781	93	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA1866080 rs565045862	93	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1382178259 CA348453428	93	G>S		No	ClinGen TOPMed
rs374148816 CA1866083	95	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374148816 CA1866082	95	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226827107 CA348453844	99	Y>C		No	ClinGen gnomAD
CA348453862 rs1286522355	100	H>Q		No	ClinGen TOPMed gnomAD
rs778094806 CA1866084	101	A>P		No	ClinGen ExAC gnomAD
rs1180487391 CA348453869	101	A>V		No	ClinGen TOPMed
CA1866085 rs750089723	102	I>V		No	ClinGen ExAC gnomAD
CA348453883 rs535841110	103	L>V		No	ClinGen gnomAD
rs758037247 CA1866086	104	E>K		No	ClinGen ExAC gnomAD
CA348453906 rs1358825812	105	A>P		No	ClinGen gnomAD
rs867110210 CA55446876	106	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	107	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866088 rs779459658	110	L>V		No	ClinGen ExAC
CA1866089 rs200256105	111	S>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	112	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189519368 CA348453992	113	L>P		No	ClinGen gnomAD
rs117125192 CA1866091	118	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1368928714 CA348454042	118	F>L		No	ClinGen TOPMed gnomAD
CA1866092 rs769761390	123	S>C		No	ClinGen ExAC gnomAD
CA348454105 rs1392406224	124	L>I		No	ClinGen gnomAD
CA1866093 rs773032464	125	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1321544607 CA348454116	125	R>H		No	ClinGen gnomAD
CA55446897 rs945309777	128	S>T		No	ClinGen TOPMed gnomAD
rs749506550 CA1866094	130	T>A		No	ClinGen ExAC gnomAD
CA348454172 rs1341553314	131	I>F		No	ClinGen gnomAD
CA1866095 rs377009535	132	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA348454185 rs1240792478	132	Q>R		No	ClinGen TOPMed gnomAD
rs1410641609 CA348454202	134	F>L		No	ClinGen TOPMed
rs759541783 CA1866098	136	Q>*		No	ClinGen ExAC gnomAD
CA1866097 rs759541783	136	Q>K		No	ClinGen ExAC gnomAD
rs1267167280 CA348454230	136	Q>R		No	ClinGen gnomAD
rs148193364 CA1866120	138	A>G		No	ClinGen ESP ExAC gnomAD
CA1866121 rs762170364	140	D>N		No	ClinGen ExAC gnomAD
rs954779065 CA55447729	141	E>D		No	ClinGen TOPMed
CA348454345 rs1172179610	143	P>A		No	ClinGen TOPMed gnomAD
CA348454344 rs1172179610	143	P>T		No	ClinGen TOPMed gnomAD
CA1866122 rs765506986	144	P>L		No	ClinGen ExAC gnomAD
CA1866123 rs751307512	145	E>A		No	ClinGen ExAC TOPMed gnomAD
rs767169917 CA1866125	146	G>E		No	ClinGen ExAC gnomAD
CA348454373 rs1298650163	147	C>R		No	ClinGen gnomAD
CA1866126 rs752208940	149	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348454402 rs752208940	149	S>W		No	ClinGen ExAC gnomAD
COSM459644 rs267598867 CA55447769	152	S>L	cervix Variant assessed as Somatic; impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA348454447 rs1206313705	155	G>E		No	ClinGen TOPMed
rs749174470 CA1866129	156	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	157	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	157	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242428066 CA348454500	162	D>E		No	ClinGen TOPMed
rs1204405623 CA348454496	162	D>V		No	ClinGen gnomAD
rs778654544 CA1866131	168	L>V		No	ClinGen ExAC gnomAD
CA55447794 rs772240188	170	T>A		No	ClinGen ExAC TOPMed gnomAD
CA55447807 rs761079050	170	T>I		No	ClinGen Ensembl
CA1866133 rs772240188	170	T>P		No	ClinGen ExAC TOPMed gnomAD
CA348454563 rs1268248674	172	S>A		No	ClinGen gnomAD
CA348454568 rs1357671000	172	S>F		No	ClinGen gnomAD
CA348454578 rs1227603704	173	E>G		No	ClinGen TOPMed
rs1205122802 CA348454583	174	R>G		No	ClinGen gnomAD
CA1866140 rs773673911	175	P>L		No	ClinGen ExAC gnomAD
CA55448995 rs928402338	175	P>S		No	ClinGen TOPMed gnomAD
CA348455164 rs887679203	178	L>F		No	ClinGen gnomAD
CA348455184 rs1175039965	180	F>L		No	ClinGen TOPMed
rs767223317 CA1866142	181	K>E		No	ClinGen ExAC TOPMed gnomAD
CA348455207 rs1236963054	183	D>Y		No	ClinGen TOPMed
rs752263906 CA1866143	184	H>R		No	ClinGen ExAC gnomAD
CA348455220 rs1293421298	184	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	185	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866144 rs760302863	186	Y>H		No	ClinGen ExAC gnomAD
rs763494768 CA1866145	188	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348455260 rs1488252585	188	S>T		No	ClinGen gnomAD
CA348455284 rs1450558103	190	N>I		No	ClinGen gnomAD
CA348455297 rs1573512914	191	P>R		No	ClinGen Ensembl
TCGA novel	194	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1481382305 CA348455322	194	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1866149 rs750167946	197	I>F		No	ClinGen ExAC gnomAD
CA348455387 rs1181179801	200	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1528067 CA55449025 rs768872494	202	I>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1459519951 CA348455406	202	I>T		No	ClinGen gnomAD
CA1866150 rs758631988	209	N>D		No	ClinGen ExAC gnomAD
rs370309601 CA1866151	209	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866153 rs747191845	211	H>N		No	ClinGen ExAC gnomAD
rs200613827 CA55449039	211	H>P		No	ClinGen Ensembl
CA1866152 rs747191845	211	H>Y		No	ClinGen ExAC gnomAD
rs374345386 CA1866154	212	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866155 rs749193577 COSM3764802	212	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1866156 rs770153704	216	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1866158 rs540119468	218	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771421998 CA1866159	219	N>D		No	ClinGen ExAC gnomAD
rs1573513053 CA348455578	219	N>K		No	ClinGen Ensembl
rs775336319 CA1866160	219	N>S		No	ClinGen ExAC gnomAD
CA1866161 rs760219651	220	A>V		No	ClinGen ExAC gnomAD
rs763696808 CA1866162	221	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1866164 rs761831326	222	K>N		No	ClinGen ExAC gnomAD
CA1866163 rs753245487	222	K>R		No	ClinGen ExAC gnomAD
CA348455600 rs1182990749	223	I>S		No	ClinGen gnomAD
CA55449099 rs940014742	224	N>H		No	ClinGen TOPMed
rs4662775 CA348455608	224	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1473972226 CA348455622	226	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1412164298 CA348455687	232	F>Y		No	ClinGen gnomAD
rs1191836221 CA348455769	233	N>K		No	ClinGen TOPMed
rs1427009235 CA348455774	234	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	236	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759206201 CA1866180	238	P>A		No	ClinGen ExAC TOPMed gnomAD
rs146323756 CA1866181	239	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776216392 CA1866182	240	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	241	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866183 rs761159782	242	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1309905497 CA348455875	244	Y>C		No	ClinGen TOPMed gnomAD
rs1351227296 CA348455882	245	G>S		No	ClinGen gnomAD
CA1866185 rs773190820	246	V>M		No	ClinGen ExAC gnomAD
TCGA novel	247	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866187 rs766193989	247	E>G		No	ClinGen ExAC gnomAD
CA1866186 rs762846484	247	E>K		No	ClinGen ExAC gnomAD
CA348455902 rs762846484	247	E>Q		No	ClinGen ExAC gnomAD
CA348455934 rs1346282887	250	I>V		No	ClinGen TOPMed gnomAD
CA1866189 rs755243757	252	S>C		No	ClinGen ExAC gnomAD
rs559606455 CA348455967	253	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA55449846 rs559606455	253	T>S		No	ClinGen gnomAD
rs1284915764 CA348455975	254	E>K		No	ClinGen TOPMed
CA348455998 rs1436790728	256	K>E		No	ClinGen gnomAD
CA55449849 rs377726916	257	A>T		No	ClinGen ESP TOPMed
CA348456034 rs1353224965	259	D>V		No	ClinGen gnomAD
CA348456073 rs1248040527	263	V>M		No	ClinGen gnomAD
CA1866203 rs772670280	266	T>A		No	ClinGen ExAC gnomAD
CA1866204 rs762898257	266	T>N		No	ClinGen ExAC TOPMed gnomAD
CA1866206 rs533795611	271	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs759312548 CA1866207	273	I>T		No	ClinGen ExAC gnomAD
CA348453499 rs767327674	274	G>A		No	ClinGen ExAC gnomAD
CA1866208 rs767327674	274	G>D		No	ClinGen ExAC gnomAD
CA348453527 rs1322166821	277	D>G		No	ClinGen TOPMed
rs752906667 CA1866209	277	D>N		No	ClinGen ExAC gnomAD
rs1437656158 CA348453550	279	I>V		No	ClinGen gnomAD
TCGA novel	280	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326301526 CA348453607	283	Q>E		No	ClinGen gnomAD
CA1866211 rs764305068	284	G>V		No	ClinGen ExAC gnomAD
rs368075843 CA55430695	286	L>V		No	ClinGen ESP
rs1573518202 CA348454268	288	G>R		No	ClinGen Ensembl
CA348454291 rs1390875827	291	R>K		No	ClinGen TOPMed
rs762053199 CA348455655	292	D>E		No	ClinGen ExAC TOPMed gnomAD
CA348455635 rs753974200	292	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1866230 rs753974200	292	D>N		No	ClinGen ExAC TOPMed gnomAD
CA348455673 rs1473675554	293	L>P		No	ClinGen gnomAD
CA348455668 rs1255550324	293	L>V		No	ClinGen gnomAD
CA1866233 COSM1006374 rs765347260	296	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1866232 rs765347260	296	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1866235 rs780304167	298	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1866236 rs751862525	300	Q>*		No	ClinGen ExAC gnomAD
rs1022847087 CA348455734	300	Q>L		No	ClinGen TOPMed
rs1022847087 CA55433117	300	Q>R		No	ClinGen TOPMed
CA1866237 rs755766836	302	K>R		No	ClinGen ExAC gnomAD
CA1866238 rs777466337	303	E>A		No	ClinGen ExAC gnomAD
rs748922668 CA1866239	304	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1026215962 CA55433133	306	K>E		No	ClinGen Ensembl
rs745827245 CA1866242	313	N>H		No	ClinGen ExAC gnomAD
rs1275258929 CA348455945	313	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	314	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866243 rs772000066	314	E>D		No	ClinGen ExAC gnomAD
rs1278275343 CA348456013	316	A>T		No	ClinGen gnomAD
rs775442369 CA1866244	317	P>S		No	ClinGen ExAC gnomAD
rs4662594 CA348456088	319	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA55433144 rs1015484091	319	K>Q		No	ClinGen TOPMed
CA348456112 rs1558767089 COSM475892	321	W>*	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA55433161 rs866870244	322	Q>*		No	ClinGen Ensembl
rs762074584 CA1866248	322	Q>H		No	ClinGen ExAC gnomAD
CA348456130 rs1402947635	323	L>M		No	ClinGen TOPMed gnomAD
rs765273176 CA1866249	324	Q>P		No	ClinGen ExAC gnomAD
rs1354704687 CA348456268	326	L>F		No	ClinGen TOPMed
rs1468366478 CA348456273	326	L>R		No	ClinGen TOPMed gnomAD
CA55433569 rs1023902204	327	S>N		No	ClinGen TOPMed
CA348456328 rs1553435190	330	T>A		No	ClinGen Ensembl
CA1866264 rs768621372	330	T>I		No	ClinGen ExAC
rs776535759 CA1866265	332	A>V		No	ClinGen ExAC TOPMed gnomAD
CA348456359 rs1429648486	333	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1429648486 CA348456358	333	R>G		No	ClinGen TOPMed gnomAD
CA1866266 rs376225871	333	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	334	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146936997 CA1866269	338	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766430960 CA1866271	338	P>L		No	ClinGen ExAC gnomAD
CA1866270 rs146936997	338	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1438370419 CA348456430	339	V>I		No	ClinGen TOPMed gnomAD
CA1866272 rs189963968	345	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA55433620 rs113315394	348	D>G		No	ClinGen ExAC gnomAD
CA1866274 rs113315394	348	D>V		No	ClinGen ExAC gnomAD
CA1866275 rs767895728	349	L>F		No	ClinGen ExAC gnomAD
rs1305896309 CA348456532	353	F>S		No	ClinGen gnomAD
CA1866276 rs373438460	355	T>A		No	ClinGen ESP ExAC gnomAD
CA1866277 rs756876597	357	A>G		No	ClinGen ExAC gnomAD
rs1235680073 CA348456554	357	A>T		No	ClinGen TOPMed
CA1866290 rs771036242	359	A>T		No	ClinGen ExAC TOPMed gnomAD
CA55434892 rs949420083	360	I>V		No	ClinGen TOPMed gnomAD
CA1866291 rs774370007	362	K>R		No	ClinGen ExAC TOPMed gnomAD
CA348456889 rs1259431135	363	T>A		No	ClinGen gnomAD
CA348456891 rs1486954499	363	T>I		No	ClinGen gnomAD
rs760062786 CA1866292	364	A>T		No	ClinGen ExAC gnomAD
rs375209686 CA1866294	366	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA348456908 rs375209686	366	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408435856 CA348456924	367	S>L		No	ClinGen gnomAD
rs754020698 CA1866295	367	S>P		No	ClinGen ExAC gnomAD
rs761171217 CA1866296	368	E>G		No	ClinGen ExAC gnomAD
CA348456960 rs1178262102	370	R>I		No	ClinGen TOPMed
CA1866297 rs369942228	370	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1006377 CA1866300 rs766018217	372	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1866301 rs751055878	374	E>K		No	ClinGen ExAC gnomAD
rs781255708 CA1866303	375	E>K		No	ClinGen ExAC gnomAD
rs1181794835 CA348457044	376	N>S		No	ClinGen TOPMed
CA1866304 rs145904892	377	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA348457066 rs1374349738	378	K>Q		No	ClinGen gnomAD
CA348457670 rs1373723110	381	K>R		No	ClinGen gnomAD
rs1029862668 CA55437353	383	T>A		No	ClinGen TOPMed
CA1866321 rs201964193	383	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1866322 rs766913373	386	L>S		No	ClinGen ExAC gnomAD
TCGA novel	387	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348457739 rs1273133341	392	A>S		No	ClinGen gnomAD
CA348457742 rs1343679991	392	A>V		No	ClinGen gnomAD
CA348457744 rs755962693	393	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1866324 rs755962693	393	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1866325 rs777642686	394	F>V		No	ClinGen ExAC gnomAD
rs1205741232 CA348457762	396	N>D		No	ClinGen gnomAD
CA1866326 rs116770175	397	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348457780 rs1290979539	398	L>R		No	ClinGen gnomAD
rs142963053 CA1866328 COSM1236184	400	M>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA348457791 rs1393143495	400	M>L		No	ClinGen gnomAD
rs1169695070 CA348457800	401	D>G		No	ClinGen gnomAD
rs746080787 CA1866329	404	T>I		No	ClinGen ExAC gnomAD
CA55437391 rs771743950	406	D>H		No	ClinGen Ensembl
CA1866331 rs779968924	407	I>V		No	ClinGen ExAC gnomAD
rs150369972 CA1866332	408	F>C		No	ClinGen ESP ExAC gnomAD
rs1283399774 CA348457879	410	L>P		No	ClinGen gnomAD
rs1205509257 CA348457877	410	L>V		No	ClinGen gnomAD
rs1205886212 CA348457890	412	D>H		No	ClinGen TOPMed
rs1347249327 CA348457894	412	D>V		No	ClinGen TOPMed
CA55438465 rs925325677	414	L>W		No	ClinGen Ensembl
CA1866358 rs773668068	418	A>T		No	ClinGen ExAC gnomAD
CA1866360 rs771562188	419	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745535728 CA1866359	419	R>W		No	ClinGen ExAC TOPMed gnomAD
rs936773806 CA55438481	420	V>L		No	ClinGen Ensembl
CA1866361 rs758027128	421	M>V		No	ClinGen ExAC gnomAD
rs892313037 CA55438498	425	H>R		No	ClinGen Ensembl
CA348457985 rs570577436	426	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1384824645 CA348457992	427	L>F		No	ClinGen gnomAD
CA348457989 rs1440500931	427	L>W		No	ClinGen TOPMed
rs1337105165 CA348457994	428	G>R		No	ClinGen TOPMed
rs761708516 CA1866365	429	I>T		No	ClinGen ExAC gnomAD
rs1418454445 CA348458000	429	I>V		No	ClinGen TOPMed gnomAD
CA348458017 rs1375587012	431	G>A		No	ClinGen gnomAD
CA348458019 rs1413785397	432	L>V		No	ClinGen gnomAD
CA348458026 rs368032461	433	S>A		No	ClinGen ESP TOPMed
CA55438504 rs368032461	433	S>P		No	ClinGen ESP TOPMed
rs1175029014 CA348458031	434	L>V		No	ClinGen TOPMed
CA55438509 rs963980086	435	H>R		No	ClinGen TOPMed gnomAD
CA348458060 rs1337176855	438	L>W		No	ClinGen gnomAD
CA348458082 rs1239438182	441	N>K		No	ClinGen gnomAD
rs765049843 CA1866366	442	I>V		No	ClinGen ExAC gnomAD
CA1866368 rs758661619	443	Q>H		No	ClinGen ExAC gnomAD
CA1866367 rs750170057	443	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1195339470 CA348458098	444	P>S		No	ClinGen Ensembl
rs146104685 CA348458105	445	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs146104685 CA1866369	445	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA348458114 rs1486075814	446	E>D		No	ClinGen gnomAD
CA348458121 rs1255459249	448	D>N		No	ClinGen TOPMed
rs201917960 CA55438528	449	Y>H		No	ClinGen gnomAD
CA1866371 rs142419745	451	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs142419745 CA1866372	451	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348458156 rs1182947020	453	I>V		No	ClinGen TOPMed gnomAD
CA1866374 rs370770594	454	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1866373 rs748692822	454	R>W		No	ClinGen ExAC TOPMed gnomAD
CA55438565 rs762314655	455	S>N		No	ClinGen TOPMed gnomAD
rs778292163 CA1866375	457	A>P		No	ClinGen ExAC TOPMed gnomAD
rs778292163 CA55438571	457	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1300591389 CA348458183	458	I>N		No	ClinGen gnomAD
rs749545483 CA1866376	458	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1866393 rs191575347	461	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1866392 rs756689869	461	V>I		No	ClinGen ExAC gnomAD
CA1866394 rs754360256	462	N>H		No	ClinGen ExAC gnomAD
CA1866396 rs779308626	465	E>A		No	ClinGen ExAC gnomAD
CA1866398 rs768251058	466	V>A		No	ClinGen ExAC gnomAD
rs1468410301 CA348458253	467	D>H		No	ClinGen gnomAD
CA1866400 rs747592117	469	R>K		No	ClinGen ExAC TOPMed gnomAD
rs973336656 CA55440620	469	R>S		No	ClinGen Ensembl
CA1866402 rs773070861	470	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs375802885 CA1866401	470	Y>C		No	ClinGen ESP ExAC gnomAD
CA348458282 rs1485620659	471	N>T		No	ClinGen TOPMed
CA1866403 rs183821104	472	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	473	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348458293 rs1393538105 COSM1399322	473	W>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs770662573 CA1866404	474	P>R		No	ClinGen ExAC gnomAD
rs954268175 CA55440650	476	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	476	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866406 rs550777068	478	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA348458335 rs1338668194	479	E>K		No	ClinGen gnomAD
CA348458333 rs1338668194	479	E>Q		No	ClinGen gnomAD
CA348458349 rs950615199	481	L>F		No	ClinGen gnomAD
CA55440652 rs950615199	481	L>I		No	ClinGen gnomAD
CA1866407 rs767779055	482	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1321560748 CA348458355	482	R>P		No	ClinGen TOPMed gnomAD
rs1321560748 CA348458354	482	R>Q		No	ClinGen TOPMed gnomAD
CA1866408 rs752960901	483	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1573547058 CA348458361	483	P>L		No	ClinGen Ensembl
rs752960901 COSM1691035 CA348458358	483	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1312727501 CA348458380	486	P>L		No	ClinGen TOPMed
CA1866409 rs760898157	487	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	488	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567499166 CA55440659	489	I>T		No	ClinGen 1000Genomes gnomAD
rs371400217 CA55440670	490	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371400217 CA1866411	490	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866410 rs764250020	490	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1866413 rs139418908	492	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1866412 rs757746933	492	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348458466 rs1297631689	499	M>I		No	ClinGen gnomAD
rs765715909 CA55440694	499	M>T		No	ClinGen gnomAD
CA1866416 rs536028643	499	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	500	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766697168 CA1866438	500	V>F		No	ClinGen ExAC gnomAD
CA1866440 rs369281288	502	I>T		No	ClinGen ESP ExAC gnomAD
rs142001352 CA1866439	502	I>V		No	ClinGen ESP ExAC TOPMed
CA1866441 rs777158393	503	V>A		No	ClinGen ExAC gnomAD
rs953606149 CA55441402	504	D>E		No	ClinGen TOPMed
CA348458504 rs1241279631	504	D>G		No	ClinGen TOPMed gnomAD
CA348458501 rs78915985	504	D>N		No	ClinGen Ensembl
rs78915985 CA55441400	504	D>Y		No	ClinGen Ensembl
CA55441404 rs760784770	505	P>L		No	ClinGen Ensembl
CA348458509 rs1310050604	505	P>S		No	ClinGen gnomAD
rs1553437861 CA348458512	506	A>T		No	ClinGen Ensembl
rs1274290951 CA348458519	507	H>D		No	ClinGen Ensembl
rs142418887 CA1866444	507	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1866443 rs142418887	507	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1866442 rs142418887	507	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348458534 rs1250411266	509	T>I		No	ClinGen TOPMed gnomAD
CA55441415 rs79030267	512	E>A		No	ClinGen 1000Genomes
CA348458559 rs1176555895	513	L>S		No	ClinGen TOPMed gnomAD
rs1046930070 CA55441420	514	M>L		No	ClinGen TOPMed
rs772035312 CA1866446	516	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775389490 CA1866447	518	E>D		No	ClinGen ExAC gnomAD
CA1866448 rs747260005	519	M>L		No	ClinGen ExAC gnomAD
rs747260005 CA1866449	519	M>V		No	ClinGen ExAC gnomAD
rs1424624076 CA348458611	520	F>L		No	ClinGen TOPMed gnomAD
CA1866450 rs776577676	521	L>V		No	ClinGen ExAC gnomAD
rs762021673 CA1866451	522	S>G		No	ClinGen ExAC gnomAD
CA1866452 rs765220024	523	N>S		No	ClinGen ExAC gnomAD
TCGA novel	524	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	525	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199990012 CA1866454	525	I>T		No	ClinGen ExAC TOPMed gnomAD
rs773747165 CA1866453	525	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348458649 rs1454882221	526	P>L		No	ClinGen TOPMed
CA348458656 rs1373791371	528	R>G		No	ClinGen gnomAD
CA348458678 rs1216463232	529	I>N		No	ClinGen TOPMed gnomAD
rs1216463232 CA348458679	529	I>S		No	ClinGen TOPMed gnomAD
rs1021413588 CA55442930	529	I>V		No	ClinGen TOPMed gnomAD
rs773227351 CA1866471	532	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1335166928 CA348458717	535	V>L		No	ClinGen gnomAD
CA1866472 rs763462817	536	N>S		No	ClinGen ExAC gnomAD
TCGA novel	537	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348458738 rs1287584469	538	S>P		No	ClinGen gnomAD
rs771357149 CA1866473	539	E>K		No	ClinGen ExAC gnomAD
CA348458754 rs1218003457	540	D>G		No	ClinGen gnomAD
CA1866474 COSM3836788 rs774831190	541	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA348458773 rs1558784829	543	G>E		No	ClinGen Ensembl
CA1866476 rs767747530	543	G>R		No	ClinGen ExAC gnomAD
CA348458777 rs1420299270	544	M>V		No	ClinGen TOPMed gnomAD
CA348458797 rs1473297400	546	D>G		No	ClinGen TOPMed gnomAD
CA1866477 rs753570241	547	A>G		No	ClinGen ExAC
rs1163061357 CA348458803	547	A>S		No	ClinGen gnomAD
CA348458809 rs1389151818	548	G>E		No	ClinGen gnomAD
rs761335158 CA1866478	551	V>G		No	ClinGen ExAC gnomAD
rs1298248558 CA348458831	552	L>F		No	ClinGen gnomAD
rs1298248558 CA348458830	552	L>V		No	ClinGen gnomAD
rs764865598 CA1866479	553	R>*		No	ClinGen ExAC gnomAD
CA1866480 rs749898679	553	R>I		No	ClinGen ExAC TOPMed gnomAD
rs749898679 CA348458836	553	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	554	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355726473 CA348458845	554	A>V		No	ClinGen gnomAD
CA348458850 rs1243744417	555	Y>C		No	ClinGen gnomAD
CA348458867 rs1300951099	557	Y>C		No	ClinGen TOPMed
rs1282251870 CA348458863	557	Y>H		No	ClinGen gnomAD
CA1866482 rs780207262	560	Q>E		No	ClinGen ExAC gnomAD
rs1406788782 CA348458896	561	E>D		No	ClinGen TOPMed
CA348458893 rs1467510312	561	E>G		No	ClinGen TOPMed
CA1866483 rs751532142	562	V>A		No	ClinGen ExAC gnomAD
CA348458897 rs1487964835	562	V>M		No	ClinGen gnomAD
rs1158118125 CA348458906	563	D>G		No	ClinGen TOPMed
rs1259815209 CA348458911	564	D>Y		No	ClinGen gnomAD
rs1443241747 CA348458922	565	Y>C		No	ClinGen gnomAD
CA1866486 rs780808948	566	H>P		No	ClinGen ExAC gnomAD
rs780808948 CA1866485	566	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs148868667 CA1866484	566	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1866489 rs749434005	569	Q>E		No	ClinGen ExAC TOPMed
CA1866491 rs774886371	573	H>Q		No	ClinGen ExAC gnomAD
CA1866490 rs759067675	573	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1250900018 CA348458969	573	H>Y		No	ClinGen gnomAD
rs767358312 CA1866502	574	I>V		No	ClinGen ExAC gnomAD
CA348458998 rs1374526682	575	Y>C		No	ClinGen TOPMed gnomAD
rs778023292 CA1866505	576	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1055282991 CA55445173	576	N>S		No	ClinGen TOPMed gnomAD
rs749487241 CA1866506	578	V>L		No	ClinGen ExAC gnomAD
rs1168044986 CA348459023	579	R>K		No	ClinGen TOPMed
CA1866507 rs757364995	580	T>S		No	ClinGen ExAC gnomAD
TCGA novel	581	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778926620 CA1866508	581	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1866509 rs142665549	582	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375860780 CA348459038	582	E>K		No	ClinGen TOPMed
TCGA novel	583	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA55445178 rs772405479	584	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1866510 rs772405479	584	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	587	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866511 rs200271089	591	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	592	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275147349 CA348459118	594	E>K		No	ClinGen TOPMed
rs773049954 CA1866514	598	P>L		No	ClinGen ExAC TOPMed gnomAD
CA348459149 rs1374395955	598	P>T		No	ClinGen gnomAD
CA1866517 rs773676304	600	V>I		No	ClinGen ExAC gnomAD
CA55445212 rs1041230954	602	V>G		No	ClinGen TOPMed gnomAD
rs759522119 CA1866518	602	V>M		No	ClinGen ExAC gnomAD
CA55445213 rs900911470	603	N>I		No	ClinGen TOPMed
CA55445216 rs996662078	604	S>G		No	ClinGen TOPMed
CA1866519 rs767420493	604	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1866520 rs773547430	605	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348459208 rs1299339311	607	G>E		No	ClinGen gnomAD
CA1866522 rs755949254	611	A>T		No	ClinGen ExAC gnomAD
CA348459236 rs1316378594	611	A>V		No	ClinGen TOPMed gnomAD
rs551061176 CA1866524	612	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1553439445 CA348459238	612	Y>H		No	ClinGen Ensembl
CA1866523 rs551061176	612	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA348459246 rs1488456165	613	D>G		No	ClinGen gnomAD
CA1866525 rs757424281	613	D>Y		No	ClinGen ExAC gnomAD
rs547177342 CA348459250	614	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348459251 rs1263283785	614	R>Q		No	ClinGen TOPMed gnomAD
rs547177342 CA1866527	614	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111377408 CA1866529	616	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371831015 CA1866528	616	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA55446513 rs1044485374	619	A>T		No	ClinGen Ensembl
CA55446522 rs371963783	621	G>A		No	ClinGen ESP ExAC gnomAD
rs371940965 CA1866544	621	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371963783 CA1866545	621	G>V		No	ClinGen ESP ExAC gnomAD
rs755878470 CA55446524	624	E>A		No	ClinGen gnomAD
rs142802070 CA55446530	624	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866546 rs758458185	624	E>K		No	ClinGen ExAC gnomAD
CA348459336 rs752145530	625	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA348459341 rs1378985130	626	T>N		No	ClinGen gnomAD
CA348459342 rs1378985130	626	T>S		No	ClinGen gnomAD
rs1355086593 CA348459354	628	V>G		No	ClinGen gnomAD
rs199865186 CA1866550	628	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs748590265 CA1866551	632	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778475331 CA1866553	633	V>G		No	ClinGen ExAC gnomAD
rs770180928 COSM175421 CA1866552	633	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA348459385 rs1255058874	634	V>A		No	ClinGen gnomAD
CA1866554 rs745498642	635	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	636	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348459395 rs1180297410	636	F>S		No	ClinGen gnomAD
rs571417676 CA1866556	637	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348459416 rs1370514964	639	M>T		No	ClinGen TOPMed
rs1378609200 CA348459422	640	P>A		No	ClinGen gnomAD
rs201562265 CA1866557	640	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201562265 CA348459425	640	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200683999 CA1866559	645	Q>H		No	ClinGen 1000Genomes ExAC
rs765059118 CA1866561	647	D>G		No	ClinGen ExAC TOPMed gnomAD
rs184357323 CA55446587	649	D>N		No	ClinGen 1000Genomes
CA1866562 rs750652418	651	L>F		No	ClinGen ExAC gnomAD
rs1378268971 CA348459500	651	L>S		No	ClinGen gnomAD
CA348459515 rs559452486	653	T>I		No	ClinGen TOPMed gnomAD
CA55446592 rs559452486	653	T>S		No	ClinGen TOPMed gnomAD
rs1043231836 CA55446601	654	I>L		No	ClinGen TOPMed
rs1249501239 CA348459526	655	T>R		No	ClinGen TOPMed
CA1866563 rs779976451	656	M>I		No	ClinGen ExAC TOPMed gnomAD
CA348459536 rs1219321980	657	H>N		No	ClinGen gnomAD
CA348459589 rs1321327034	664	T>I		No	ClinGen gnomAD
CA1866565 rs117344947	665	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1866566 rs755104076	665	F>S		No	ClinGen ExAC gnomAD
rs1248388425 CA348459612	668	R>G		No	ClinGen TOPMed gnomAD
rs781779049 CA1866567	669	A>T		No	ClinGen ExAC gnomAD
rs145894335 CA1866568 RCV000881780	669	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA348459627 rs1363061032	670	V>A		No	ClinGen gnomAD
CA1866570 rs369755767	671	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	671	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348459639 rs1173256483	672	L>S		No	ClinGen gnomAD
rs764377790 CA1866595	673	G>S		No	ClinGen ExAC
CA1866597 rs555116387	674	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs779744417 CA1866598	675	L>V		No	ClinGen ExAC gnomAD
CA1866599 rs746641771	676	P>L		No	ClinGen ExAC TOPMed gnomAD
rs901145404 CA55453725	676	P>S		No	ClinGen Ensembl
rs998204745 CA55453744	677	H>R		No	ClinGen TOPMed gnomAD
CA1866600 rs754526033	679	Q>R		No	ClinGen ExAC gnomAD
rs1383937877 CA348459743	685	I>T		No	ClinGen gnomAD
rs748060708 CA1866602	685	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1866604 rs370863486	686	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs769703540 CA1866603	686	M>V		No	ClinGen ExAC gnomAD
CA1866605 rs374171534	687	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866607 rs770823209	688	Q>*		No	ClinGen ExAC gnomAD
CA348459766 CA348459765 rs1335933088	688	Q>H		No	ClinGen TOPMed gnomAD
rs770823209 CA1866606	688	Q>K		No	ClinGen ExAC gnomAD
rs759792408 CA1866608	689	P>L		No	ClinGen ExAC gnomAD
rs144222766 CA1866609	690	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866610 rs775651234	691	V>I		No	ClinGen ExAC gnomAD
rs761093935 CA1866611	692	V>I		No	ClinGen ExAC gnomAD
CA348459806 rs1286890372	695	I>M		No	ClinGen gnomAD
CA348459811 rs1353238128	696	N>S		No	ClinGen gnomAD
CA1866613 rs754287351	698	R>G		No	ClinGen ExAC gnomAD
TCGA novel	699	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866614 rs757689907	700	L>W		No	ClinGen ExAC gnomAD
CA55453792 rs866959986	701	T>A		No	ClinGen Ensembl
CA1866615 rs765559372	701	T>I		No	ClinGen ExAC gnomAD
rs1241792831 CA348459849	702	A>V		No	ClinGen gnomAD
CA1866617 rs754579040	703	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1866616 rs751248497	703	E>K		No	ClinGen ExAC gnomAD
CA1866618 rs151159950	704	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1866619 rs747758555	706	Y>D		No	ClinGen ExAC gnomAD
CA1866621 rs755562289	708	D>N		No	ClinGen ExAC gnomAD
CA1866620 rs755562289	708	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	711	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866623 rs770880278	712	S>N		No	ClinGen ExAC gnomAD
CA1866625 rs746099926	713	N>Y		No	ClinGen ExAC gnomAD
rs1320379231 CA348460210	714	N>S		No	ClinGen gnomAD
CA348460232 rs1219657640	715	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA55455882 rs747167609	716	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1866646 rs747167609	716	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1479969839 CA348460260	717	V>M		No	ClinGen TOPMed gnomAD
rs776528293 CA1866648	718	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1866647 rs768816350	718	D>Y		No	ClinGen ExAC gnomAD
rs1196747695 CA348460313	720	Y>F		No	ClinGen gnomAD
CA1866649 rs762324189	720	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA348460369 rs1460512321	724	T>A		No	ClinGen gnomAD
CA348460402 rs1573585723	726	L>W		No	ClinGen Ensembl
CA1866650 rs770222437	728	S>A		No	ClinGen ExAC gnomAD
rs773693712 CA1866651	729	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1185269364 CA348460471	731	K>Q		No	ClinGen gnomAD
rs763354698 CA1866652	732	T>P		No	ClinGen ExAC gnomAD
CA1866653 rs766618113	734	A>V		No	ClinGen ExAC
rs752422266 CA1866654	735	V>L		No	ClinGen ExAC gnomAD
rs201860527 CA1866655	736	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473109128 CA348460551	737	N>H		No	ClinGen gnomAD
rs753330688 CA1866657	737	N>S		No	ClinGen ExAC TOPMed gnomAD
CA55455994 rs201653731	738	S>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs756820886 CA1866658	745	K>R		No	ClinGen ExAC gnomAD
CA55456575 rs370129540	747	M>I		No	ClinGen ESP TOPMed gnomAD
CA348460800 rs1214550697	747	M>R		No	ClinGen gnomAD
CA348460828 rs1573587157	749	S>F		No	ClinGen Ensembl
CA348460835 rs1182267296	750	K>*		No	ClinGen gnomAD
rs1255351741 CA348460838	750	K>R		No	ClinGen TOPMed gnomAD
CA1866683 rs766213839	752	I>T		No	ClinGen ExAC gnomAD
CA1866684 rs186864707	753	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186864707 CA1866685	753	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA55457303 rs77292240	754	D>A		No	ClinGen Ensembl
CA55457304 rs77292240	754	D>G		No	ClinGen Ensembl
CA348461474 rs1440796061	755	D>G		No	ClinGen gnomAD
rs1401705054 CA348461465	755	D>N		No	ClinGen gnomAD
rs1490185682 CA348461496	757	F>S		No	ClinGen TOPMed
rs1025391097 CA55457306	758	I>L		No	ClinGen gnomAD
CA55457315 rs1007983122	762	T>P		No	ClinGen Ensembl
rs1211438853 CA348461612	765	I>T		No	ClinGen TOPMed
CA1866704 rs576008618	765	I>V		No	ClinGen 1000Genomes ExAC
CA348461659 rs1489586107 COSM289501	768	D>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs777834246 CA1866707	768	D>H		No	ClinGen ExAC gnomAD
CA348461707 rs1200321827	771	S>N		No	ClinGen gnomAD
rs749392490 CA348461717	771	S>R		No	ClinGen ExAC gnomAD
CA1866709 rs189939076	772	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs779340213 CA1866710	774	G>R		No	ClinGen ExAC gnomAD
TCGA novel	775	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227027905 CA348461763	775	R>Q		No	ClinGen TOPMed
CA1866711 rs149918050	775	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348461843 rs1316127590	780	D>E		No	ClinGen TOPMed
CA348461832 rs1351053745	780	D>H		No	ClinGen gnomAD
CA1866715 rs769508383	782	I>S		No	ClinGen ExAC gnomAD
rs1436593896 CA348461857	782	I>V		No	ClinGen gnomAD
rs1343284693 CA348461878	783	K>R		No	ClinGen gnomAD
CA348461874 rs1343284693	783	K>T		No	ClinGen gnomAD
rs772997029 CA1866716	784	H>R		No	ClinGen ExAC
CA348461886 rs1401582340	784	H>Y		No	ClinGen TOPMed gnomAD
CA348461897 rs1345454698	785	Q>K		No	ClinGen TOPMed
CA1866738 rs773848984	786	K>Q		No	ClinGen ExAC gnomAD
CA348462011 rs1446740315	787	S>F		No	ClinGen gnomAD
CA348462016 rs1558804987	788	S>N		No	ClinGen Ensembl
rs1239689112 CA348462023	789	N>S		No	ClinGen gnomAD
rs772064248 CA1866740	790	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775391815 CA1866741	793	I>V		No	ClinGen ExAC gnomAD
rs760510726 CA1866742	794	S>G		No	ClinGen ExAC gnomAD
rs762046225 CA1866745	795	M>I		No	ClinGen ExAC gnomAD
CA1866744 rs754039938	795	M>V		No	ClinGen ExAC TOPMed
rs1007744467 CA55459417	796	I>F		No	ClinGen TOPMed gnomAD
CA1866746 rs200758318	797	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866747 rs141056898	798	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373502507 CA55459434	799	P>T		No	ClinGen ESP
rs758551928 CA1866748	800	A>G		No	ClinGen ExAC gnomAD
rs1399179723 COSM4138292 CA348462127	804	S>R	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs371279601 CA1866749	805	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA55459451 rs62160073	806	E>G		No	ClinGen Ensembl
rs755421274 CA1866751	808	T>I		No	ClinGen ExAC gnomAD
TCGA novel	812	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1866755 rs778426054	812	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1462152137 CA348462190	814	I>V		No	ClinGen gnomAD
rs1190764259 CA348462202	815	W>*		No	ClinGen TOPMed
rs745440702 CA1866756	816	A>T		No	ClinGen ExAC gnomAD
rs1241846310 CA348462209	816	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348462215 rs1458678054	817	A>V		No	ClinGen gnomAD
rs1181955504 CA348462224	819	Q>*		No	ClinGen gnomAD
rs771547096 CA1866757 COSM1006383	819	Q>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1362840902 CA348462225	819	Q>P		No	ClinGen TOPMed gnomAD
rs1448390720 CA348462237	821	Q>E		No	ClinGen TOPMed
CA1866758 rs775445126	821	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1866762 rs138775101	824	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1034126829 CA55459526	825	A>V		No	ClinGen Ensembl
CA1866763 rs765565927	826	A>P		No	ClinGen ExAC gnomAD
rs773298156 CA1866764	829	F>C		No	ClinGen ExAC gnomAD
rs1009149991 CA55459550	829	F>L		No	ClinGen TOPMed gnomAD
CA348462294 rs1329673981	830	I>V		No	ClinGen gnomAD
CA348462303 rs1335381988	831	T>N		No	ClinGen TOPMed gnomAD
CA55459565 rs748754019	834	A>S		No	ClinGen ExAC gnomAD
rs748754019 CA1866765	834	A>T		No	ClinGen ExAC gnomAD
CA1866766 rs375888471	835	K>R		No	ClinGen ExAC TOPMed gnomAD
rs566620033 CA348462337	836	E>A		No	ClinGen gnomAD
CA348462338 CA1866767 rs752131392	836	E>D		No	ClinGen ExAC gnomAD
rs566620033 CA55459575	836	E>G		No	ClinGen gnomAD
CA55459570 rs970423094	836	E>K		No	ClinGen TOPMed gnomAD
rs199903025 CA1866768	837	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1866769 rs199903025	837	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1249290526 CA348462346	838	A>V		No	ClinGen gnomAD
CA1866770 rs753168753	839	A>T		No	ClinGen ExAC gnomAD
CA348462362 rs1428834443	841	A>T		No	ClinGen TOPMed
CA1866771 rs370330020	842	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866772 rs778674147	843	A>P		No	ClinGen ExAC gnomAD
rs1479967214 CA348462377	844	A>T		No	ClinGen gnomAD
CA1866773 rs745487772	844	A>V		No	ClinGen ExAC TOPMed gnomAD
CA348462382 rs1425653639	845	G>R		No	ClinGen TOPMed gnomAD
CA55459630 rs143246608	846	A>T		No	ClinGen ESP
CA1866774 rs757935795	847	D>V		No	ClinGen ExAC TOPMed gnomAD
CA1866775 rs779492594	848	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1866776 rs141470228	849	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138147083 CA1866777	849	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1866779 rs374677691	853	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866780 rs769456605	854	G>A		No	ClinGen ExAC TOPMed gnomAD
rs769456605 CA1866781	854	G>V		No	ClinGen ExAC TOPMed gnomAD
CA1866805 rs200448927	856	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	865	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA55460401 rs937241328	865	F>L		No	ClinGen gnomAD
rs1444097406 CA348462539	866	E>G		No	ClinGen TOPMed gnomAD
CA348462535 rs1259646975	866	E>Q		No	ClinGen TOPMed
rs764532829 CA1866806	868	S>C		No	ClinGen ExAC TOPMed gnomAD
CA348462554 rs1288958939	869	K>Q		No	ClinGen TOPMed
CA348462557 rs1413923780	869	K>R		No	ClinGen TOPMed
rs754136980 CA1866807	870	M>L		No	ClinGen ExAC
rs766081153 CA1866809	871	D>A		No	ClinGen ExAC gnomAD
rs572713543 CA1866808	871	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA348462587 rs1311218271	873	I>T		No	ClinGen TOPMed
rs754560228 CA1866811	874	L>F		No	ClinGen ExAC gnomAD
TCGA novel	877	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1455120265 CA348462610	877	A>T		No	ClinGen gnomAD
COSM1399325 CA1866814 rs115343101	878	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1226982777 CA348462625	879	Y>C		No	ClinGen gnomAD
rs201393910 CA1866817	883	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA348462682 rs1475083655	887	K>N		No	ClinGen TOPMed
rs558443567 CA55460506	888	K>M		No	ClinGen 1000Genomes
rs1033039860 CA55460531	889	G>E		No	ClinGen TOPMed
rs1558806393 CA348462704	891	R>K		No	ClinGen Ensembl
rs202199544 CA1866818	891	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1866819 rs374688922	892	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	893	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348462747 rs1573595165	897	G>E		No	ClinGen Ensembl
rs1460893321 CA348462751	898	R>K		No	ClinGen TOPMed gnomAD
rs1460893321 CA348462753	898	R>M		No	ClinGen TOPMed gnomAD
CA1866838 rs780321001	900	I>M		No	ClinGen ExAC
rs199603289 CA1866837	900	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1457752567 CA348462791	902	P>L		No	ClinGen TOPMed
CA55461045 rs1002946848	907	E>Q		No	ClinGen TOPMed gnomAD
rs1162481031 CA348462843	910	N>D		No	ClinGen TOPMed
CA1866839 rs747118099	913	D>N		No	ClinGen ExAC gnomAD
CA348462883 rs1405301985	915	H>Y		No	ClinGen gnomAD
rs372965661 CA1866840	916	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1164236412 CA348462893	916	L>H		No	ClinGen gnomAD
CA55461098 rs958903330	917	L>I		No	ClinGen TOPMed
rs893315145 CA55461113	918	E>G		No	ClinGen gnomAD
CA1866843 COSM1163608 rs113995539	918	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA348462901 rs893315145	918	E>V		No	ClinGen gnomAD
rs546635507 CA1866845	920	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA1866844 rs546635507	920	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs767130232 CA1866846	922	L>*		No	ClinGen ExAC gnomAD
CA1866847 rs775183280	923	K>E		No	ClinGen ExAC gnomAD
CA1866848 rs760300916	924	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1188753100 CA348462952	926	G>E		No	ClinGen gnomAD
CA1866850 rs753849099	928	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1866851 rs757202456	931	S>A		No	ClinGen ExAC gnomAD
CA1866852 rs765129220	935	Q>P		No	ClinGen ExAC gnomAD
CA348463027 rs566517560	937	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566517560 CA1866854	937	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM176482 CA1866853 rs750253179	937	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780190717 CA1866855	938	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747226307 CA1866857	939	E>G		No	ClinGen ExAC TOPMed gnomAD
rs755084690 CA1866858	940	E>D		No	ClinGen ExAC TOPMed gnomAD
rs770349388 CA1866861	941	D>E		No	ClinGen ExAC gnomAD
CA1866860 rs781204881	941	D>G		No	ClinGen ExAC gnomAD
CA1866859 rs781204881	941	D>V		No	ClinGen ExAC gnomAD
CA1866862 rs369743558	942	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA348463070 rs1558810381	943	A>T		No	ClinGen Ensembl
CA348463079 rs1179235817	944	S>N		No	ClinGen TOPMed
CA1866888 rs184372637	944	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1866889 rs150967445	945	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA55463680 rs1026935681	947	V>I		No	ClinGen Ensembl
rs1178452218 CA348463106	948	M>R		No	ClinGen gnomAD
rs780846994 CA55463700	948	M>V		No	ClinGen Ensembl
CA1866892 rs762902507	952	A>G		No	ClinGen ExAC gnomAD
rs766104555 CA1866893	953	L>P		No	ClinGen ExAC gnomAD
COSM1006386 CA1866895 rs199731155	956	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA348463169 rs1573602474	958	P>R		No	ClinGen Ensembl
CA1866897 rs767772350	958	P>S		No	ClinGen ExAC gnomAD
TCGA novel	959	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348463177 rs1165909097	959	K>N		No	ClinGen gnomAD
rs756175959 CA1866899	959	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1439048335 CA348463180	960	G>E		No	ClinGen gnomAD
rs777857745 CA1866900	960	G>R		No	ClinGen ExAC gnomAD
CA1866901 rs754313556	962	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348463192 rs1241556027	962	P>S		No	ClinGen TOPMed
rs374117560 CA1866903	965	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866904 rs746293236	966	Y>H		No	ClinGen ExAC gnomAD
CA1866905 rs772544587	968	F>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1866906 rs781033546	970	E>K		No	ClinGen ExAC gnomAD
CA348463273 rs1402467171	973	H>R		No	ClinGen TOPMed
CA348463271 rs1329749572	973	H>Y		No	ClinGen gnomAD
TCGA novel	974	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755728721 CA1866925	975	A>T		No	ClinGen ExAC TOPMed gnomAD
rs374150825 CA1866926	977	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866928 rs150180993	980	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1866929 rs150180993	980	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000906562 rs73955967 CA1866931 CA348463346	982	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA55467515 rs941282299	982	E>K		No	ClinGen TOPMed
CA1866933 rs760381547	983	G>V		No	ClinGen ExAC TOPMed gnomAD
CA1866932 rs775197446	983	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1193987565 CA348463360	985	T>A		No	ClinGen gnomAD
CA348463380 rs1389561143	987	F>L		No	ClinGen TOPMed gnomAD
rs143954343 CA1866935	989	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761994977 CA348463409	992	V>A		No	ClinGen ExAC gnomAD
rs761994977 CA1866936	992	V>G		No	ClinGen ExAC gnomAD
CA1866938 rs750991432	993	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1866939 rs758921221	995	P>S		No	ClinGen ExAC gnomAD
CA55467555 rs867014617	998	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1383199710 CA348463451	999	E>G		No	ClinGen gnomAD
CA55467560 rs111733216	1001	Q>R		No	ClinGen Ensembl
rs1320488595 CA348463482	1004	A>P		No	ClinGen TOPMed gnomAD
rs766859066 CA1866940	1005	P>H		No	ClinGen ExAC gnomAD
rs752032250 CA1866941	1008	L>V		No	ClinGen ExAC gnomAD
CA348463543 rs759973432	1012	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA1866960 rs759973432	1012	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA348463545 rs1205640394	1012	Q>R		No	ClinGen gnomAD
rs1420019423 CA348463574	1016	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348463571 rs1180284546	1016	M>L		No	ClinGen TOPMed gnomAD
rs577516635 CA1866963	1016	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1866964 rs778531945	1020	V>L		No	ClinGen ExAC gnomAD
CA55468147 rs147301095	1022	M>L		No	ClinGen ESP TOPMed
CA1866966 rs757882355	1025	Q>K		No	ClinGen ExAC gnomAD
rs1177793948 CA348463638	1025	Q>R		No	ClinGen gnomAD
TCGA novel	1027	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1028	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374565408 CA1866969	1029	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs768520091 CA1866970	1031	M>T		No	ClinGen ExAC TOPMed gnomAD
CA348463675 rs1573612902	1031	M>V		No	ClinGen Ensembl
rs1347164022 CA348463686	1032	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1866971 rs780794776	1032	P>T		No	ClinGen ExAC gnomAD
CA1866972 rs540130141	1033	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348463705 rs1300527204	1035	S>T		No	ClinGen gnomAD
rs1487828964 CA348463725	1036	F>S		No	ClinGen gnomAD
CA1866991 rs376525697	1038	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA55469152 rs558066198	1038	R>H		No	ClinGen gnomAD
CA1866993 rs778167690	1039	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA55469178 rs982579409	1044	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1322720836 CA348463783	1045	I>V		No	ClinGen gnomAD
TCGA novel CA55469180 rs926487334	1047	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs771051298 CA1866995	1051	N>S		No	ClinGen ExAC gnomAD
rs1289391886 CA348463830	1052	S>G		No	ClinGen gnomAD
rs1365960922 CA348463850	1054	A>G		No	ClinGen gnomAD
rs578018332 CA55469229	1055	K>E		No	ClinGen TOPMed
rs570408170 CA1866997	1056	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1218499495 CA348463876	1059	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1186175687 CA348463920 CA348463919	1064	M>I		No	ClinGen gnomAD
CA1867002 rs772881110	1064	M>T		No	ClinGen ExAC gnomAD
rs1472962167 CA348463933	1066	Q>H		No	ClinGen gnomAD
rs1244810726 CA348463948	1069	L>V		No	ClinGen TOPMed
rs1411293004 CA348463966	1072	L>M		No	ClinGen gnomAD
rs1558818318 CA348463975	1073	N>S		No	ClinGen Ensembl
CA348463984 rs1316624591	1074	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348463987 rs1402255038	1075	N>D		No	ClinGen gnomAD
rs751086103 CA1867005	1078	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs754503249 CA1867006	1080	W>R		No	ClinGen ExAC gnomAD
CA1867007 rs767391615	1082	V>E		No	ClinGen ExAC TOPMed
rs139024150 CA1867009	1086	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA348464075 rs1427801519	1087	T>I		No	ClinGen gnomAD
rs749537719 CA1867011	1089	Y>D		No	ClinGen ExAC gnomAD
rs939925845 CA55469327	1091	L>I		No	ClinGen Ensembl
rs145961367 CA1867012	1093	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1867013 rs779192493	1094	I>V		No	ClinGen ExAC TOPMed gnomAD
CA55469961 rs1005600373	1102	V>A		No	ClinGen TOPMed
RCV001091551 rs1691234655	1103	V>M		No	ClinVar dbSNP
CA1867029 rs757047065	1105	A>G		No	ClinGen ExAC gnomAD
rs1172121350 CA348464543	1106	E>D		No	ClinGen gnomAD
rs750609631 CA1867031	1106	E>G		No	ClinGen ExAC gnomAD
rs1016934524 CA55469968	1107	Y>*		No	ClinGen Ensembl
CA1867033 rs780041085	1111	Y>H		No	ClinGen ExAC gnomAD
CA348464599 rs1573616820	1111	Y>S		No	ClinGen Ensembl
CA1867035 rs769208172	1114	L>R		No	ClinGen ExAC gnomAD
CA1867036 rs781660668	1116	G>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1120	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231874425 CA348464707	1120	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA348464723 rs1573616878	1121	I>V		No	ClinGen Ensembl
rs1272643285 CA348464741	1122	T>I		No	ClinGen TOPMed gnomAD
CA348464734 rs1573616889	1122	T>P		No	ClinGen Ensembl
rs770168579 CA1867038	1126	P>L		No	ClinGen ExAC gnomAD
CA1867040 rs146726650	1128	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1867039 rs773911386	1128	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1273505917 CA348464812	1129	G>R		No	ClinGen gnomAD
CA348464825 rs1481932591	1130	L>V		No	ClinGen gnomAD
CA348464869 rs1224504833	1133	T>N		No	ClinGen TOPMed gnomAD
rs1193694700 CA348464932	1138	A>G		No	ClinGen gnomAD
CA348464924 rs1451030587	1138	A>T		No	ClinGen gnomAD
rs956990363 CA55470057	1139	N>K		No	ClinGen Ensembl
rs73955974 RCV000906563 CA1867043	1139	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs73955974 CA348464943	1139	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764168373 CA1867044	1140	P>L		No	ClinGen ExAC gnomAD
CA1867047 rs765040837	1142	I>T		No	ClinGen ExAC TOPMed gnomAD
rs150406613 CA55470080	1142	I>V		No	ClinGen ESP TOPMed gnomAD
rs750614392 CA1867048	1146	I>V		No	ClinGen ExAC gnomAD
rs758586382 CA1867049	1148	M>T		No	ClinGen ExAC gnomAD
CA55470091 rs913021428	1148	M>V		No	ClinGen Ensembl
rs113962947 CA55470115	1149	A>T		No	ClinGen Ensembl
TCGA novel	1152	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463616121 CA348465222	1153	Y>*		No	ClinGen gnomAD
CA348465226 rs1365994288	1154	F>L		No	ClinGen TOPMed
rs753161743 CA1867075	1155	Q>*		No	ClinGen ExAC gnomAD
CA348465298 rs1423571970	1159	N>S		No	ClinGen TOPMed gnomAD
CA1867078 rs566613773	1160	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1399329 CA1867077 rs778140274	1160	P>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs757676561 CA1867079	1163	W>C		No	ClinGen ExAC TOPMed gnomAD
CA55470875 rs912678810	1164	I>F		No	ClinGen Ensembl
CA55470880 rs866349519	1167	L>I		No	ClinGen gnomAD
rs1212539156 CA348465420	1169	K>E		No	ClinGen TOPMed
CA1867081 rs746621914	1171	R>C		No	ClinGen ExAC gnomAD
rs928801898 CA55470889	1171	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1867082 rs768284682	1179	Y>D		No	ClinGen ExAC gnomAD
CA348465539 rs768284682	1179	Y>H		No	ClinGen ExAC gnomAD
rs918545543 CA55472400	1182	D>G		No	ClinGen TOPMed gnomAD
CA1867093 rs554215972	1182	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA348466059 rs1558822437	1183	G>S		No	ClinGen Ensembl
CA55472402 rs994857168 COSM1399330	1185	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA55472404 rs1051587138	1187	P>T		No	ClinGen TOPMed
rs754349227 CA1867096	1188	P>A		No	ClinGen ExAC TOPMed
rs147951041 RCV000879963 CA1867097	1188	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA348466144 rs1558822503	1191	D>N		No	ClinGen Ensembl
rs779355045 CA1867098	1192	E>K		No	ClinGen ExAC gnomAD
rs562996363 CA1867102	1196	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1867101 rs780702614	1196	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1867105 rs749181032	1198	N>S		No	ClinGen ExAC
rs141634374 CA1867106	1202	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs999775570 CA55472464	1203	K>R		No	ClinGen TOPMed gnomAD
rs1491004261 CA348466331	1205	I>T		No	ClinGen TOPMed gnomAD
rs1192292560 CA348466336	1206	K>E		No	ClinGen gnomAD
rs1348105250 CA348466552	1210	Q>*		No	ClinGen gnomAD
rs1322723717 CA348466592	1215	M>T		No	ClinGen gnomAD
CA1867120 rs755677543 COSM3406850	1216	V>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770925883 CA1867123	1218	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1867122 rs748785961	1218	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1867124 rs778793653	1220	L>F		No	ClinGen ExAC gnomAD
rs369961504 CA1867125	1221	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1867127 rs775815440	1222	S>N		No	ClinGen ExAC gnomAD
CA348466649 rs1203184293	1224	G>R		No	ClinGen TOPMed
CA55472955 rs903766911	1225	T>M		No	ClinGen gnomAD
rs1213160937 CA348466677	1228	N>D		No	ClinGen gnomAD
CA348466688 rs1238882617	1229	E>A		No	ClinGen gnomAD
rs768795908 CA1867129	1229	E>D		No	ClinGen ExAC gnomAD
TCGA novel	1232	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348466720 rs1181127271	1234	D>H		No	ClinGen gnomAD
rs73955981 CA1867130 RCV000906564	1237	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA55473454 rs182639951	1239	G>C		No	ClinGen 1000Genomes gnomAD
rs766776057 CA1867158	1239	G>V		No	ClinGen ExAC gnomAD
CA55473462 rs542584787	1241	T>A		No	ClinGen 1000Genomes gnomAD
CA1867159 rs774648638	1241	T>I		No	ClinGen ExAC gnomAD
CA348466789 rs1172957218	1242	G>E		No	ClinGen TOPMed
rs1404156493 CA348466786	1242	G>R		No	ClinGen TOPMed
CA348466796 rs1200925692	1243	Q>R		No	ClinGen gnomAD
rs1558824174 CA348466834	1248	V>A		No	ClinGen Ensembl
CA1867160 rs759918322	1251	D>G		No	ClinGen ExAC gnomAD
CA1867161 rs763787325	1252	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1393554235 CA348466869	1253	D>G		No	ClinGen gnomAD
rs753443375 CA1867162	1253	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1867163 rs756793050	1255	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1257	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558824218 CA348466907	1258	I>S		No	ClinGen Ensembl
rs758327010 CA348466924	1261	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1867166 rs758327010	1261	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1558824241 CA348466944	1264	G>D		No	ClinGen Ensembl
rs1439576234 CA348466968	1268	E>K		No	ClinGen TOPMed gnomAD
CA348466980 rs1300781589	1269	R>I		No	ClinGen gnomAD
CA348466982 rs1366994111	1269	R>S		No	ClinGen gnomAD
CA348466988 rs1228684664	1270	F>C		No	ClinGen gnomAD
TCGA novel	1271	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA55473514 rs912349151	1272	R>C		No	ClinGen TOPMed gnomAD
rs754796580 COSM3379764 CA1867169	1272	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1867185 rs749967477	1273	I>V		No	ClinGen ExAC gnomAD
rs1573627320 CA348467527	1274	M>T		No	ClinGen Ensembl
TCGA novel	1277	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs184244900 CA1867188	1278	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748392363 CA1867191	1279	L>R		No	ClinGen ExAC TOPMed gnomAD
rs114284257 CA1867192	1283	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348467658 rs1302639078	1285	P>L		No	ClinGen TOPMed
CA348467663 rs1390147539	1286	V>M		No	ClinGen TOPMed gnomAD
CA348467723 rs1382401499	1290	F>L		No	ClinGen gnomAD
rs1042349908 CA55474289	1290	F>S		No	ClinGen Ensembl
CA348467729 rs1164584873	1291	L>S		No	ClinGen TOPMed
CA348467798 rs1354595986	1297	P>A		No	ClinGen gnomAD
TCGA novel	1303	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1867210 rs767546136	1304	P>S		No	ClinGen ExAC
rs752603361 CA1867211	1305	Y>F		No	ClinGen ExAC gnomAD
rs755954861 CA1867213	1306	M>L		No	ClinGen ExAC gnomAD
CA1867212 rs755954861	1306	M>V		No	ClinGen ExAC gnomAD
rs754055547 CA1867214	1307	A>V		No	ClinGen ExAC gnomAD
rs757289368 CA1867215	1308	N>S		No	ClinGen ExAC gnomAD
rs947818220 CA55474734	1309	E>K		No	ClinGen TOPMed
CA1867216 rs778993172	1310	Y>C		No	ClinGen ExAC gnomAD
rs745936960 CA1867217	1311	N>D		No	ClinGen ExAC gnomAD
rs745936960 CA348468057	1311	N>H		No	ClinGen ExAC gnomAD
CA1867218 rs374536872	1311	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA55474739 rs1048777217	1313	Q>H		No	ClinGen TOPMed
CA348468130 rs1573628981	1317	V>I		No	ClinGen Ensembl
rs1423207886 CA348468144	1318	Q>*		No	ClinGen TOPMed
CA1867220 rs747421699	1320	K>R		No	ClinGen ExAC TOPMed gnomAD
CA348468201 rs1394155253	1322	P>T		No	ClinGen gnomAD
CA1867223 rs772770875	1323	R>L		No	ClinGen ExAC gnomAD
CA348468217 rs772770875	1323	R>P		No	ClinGen ExAC gnomAD
COSM1006391 rs772770875 CA1867222	1323	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs367781664 CA1867221	1323	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA348468227 rs1370948278	1324	W>*		No	ClinGen gnomAD
rs940562475 CA55474747	1326	H>Y		No	ClinGen TOPMed
CA1867224 rs770357879	1327	Q>E		No	ClinGen ExAC gnomAD
rs1388644960 CA348468320	1331	K>E		No	ClinGen gnomAD
CA1867227 rs759109996	1332	Q>H		No	ClinGen ExAC gnomAD
rs752635911 CA1867228	1333	R>C		No	ClinGen ExAC TOPMed gnomAD
CA348468353 rs1232374637	1333	R>H		No	ClinGen gnomAD
CA1867230 rs553145526	1335	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA1867229 rs553145526	1335	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs371618884 CA1867232	1339	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA348468434 rs1489164249	1340	I>L		No	ClinGen gnomAD
CA348468490 rs1251989522	1344	D>E		No	ClinGen gnomAD
TCGA novel	1347	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA55474804 rs374352200 COSM212117	1352	D>E	breast [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs750543596 CA1867234	1353	K>E		No	ClinGen ExAC gnomAD
rs990854990 CA55474819	1355	L>V		No	ClinGen gnomAD
rs1036595844 CA55474826	1357	V>A		No	ClinGen TOPMed
CA348468646 rs1326583352	1358	D>G		No	ClinGen gnomAD
CA348468640 rs1459504440	1358	D>N		No	ClinGen gnomAD
TCGA novel	1361	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348453557 rs201255980	1364	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs201255980 CA1867257	1364	R>Q	Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA348453579 rs1253719997	1366	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	1367	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA55436037 rs200663779	1368	K>R		No	ClinGen 1000Genomes
rs755563373 CA1867258	1370	L>*		No	ClinGen ExAC gnomAD
TCGA novel	1372	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781543892 CA1867259	1373	F>S		No	ClinGen ExAC gnomAD
rs147911417 CA1867260	1374	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200649180 CA1867261	1376	D>A		No	ClinGen ExAC gnomAD
CA55436062 rs200649180	1376	D>G		No	ClinGen ExAC gnomAD
CA55436054 rs992790640	1376	D>N		No	ClinGen TOPMed
CA1867263 rs745450606	1377	G>D		No	ClinGen ExAC gnomAD
rs1474260278 CA348453688	1378	A>G		No	ClinGen gnomAD
TCGA novel	1378	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1867265 rs775198790	1379	P>S		No	ClinGen ExAC gnomAD
rs776412281 CA55436109	1383	T>A		No	ClinGen ExAC TOPMed gnomAD
CA348453720 rs1361224442	1383	T>I		No	ClinGen gnomAD
CA348453717 rs776412281	1383	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1867268 rs776412281	1383	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1415832273 CA348453746	1387	D>A		No	ClinGen gnomAD
rs931463975 CA55436129	1388	S>N		No	ClinGen TOPMed
CA348453754 rs931463975	1388	S>T		No	ClinGen TOPMed
CA1867269 rs762550912	1389	R>*		No	ClinGen ExAC TOPMed gnomAD
CA348453758 rs762550912	1389	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1867270 rs764969270	1389	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1867271 rs773427976	1390	R>G		No	ClinGen ExAC gnomAD
CA1867272 rs763103011	1391	E>K		No	ClinGen ExAC gnomAD
rs1224243648 CA348453790	1392	M>K		No	ClinGen Ensembl
rs1224243648 CA348453792	1392	M>T		No	ClinGen Ensembl
CA348453837 rs1558828163	1394	G>A		No	ClinGen Ensembl
CA348453854 rs1221676450	1395	Y>C		No	ClinGen gnomAD
rs1573631334 CA348453886	1397	F>V		No	ClinGen Ensembl
CA1867276 rs375800908	1401	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA348453983 rs1255316861	1402	Y>D		No	ClinGen gnomAD
TCGA novel	1403	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173797962 CA348454024	1404	A>T		No	ClinGen TOPMed
rs778229022 CA1867279	1409	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1202476229 CA348454147	1410	R>*		No	ClinGen Ensembl
CA1867280 rs754242647	1412	Y>D		No	ClinGen ExAC gnomAD
CA1867281 rs758191913	1413	H>R		No	ClinGen ExAC gnomAD
rs929842732 CA55437142	1418	Y>C		No	ClinGen TOPMed
rs747643183 CA1867304	1420	V>L		No	ClinGen ExAC gnomAD
TCGA novel	1421	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756366154 CA55437157	1428	I>V		No	ClinGen TOPMed gnomAD
rs1269512989 CA348455110	1430	A>G		No	ClinGen gnomAD
TCGA novel	1430	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1047105612 CA55437163	1431	G>S		No	ClinGen TOPMed
rs769785409 CA1867305	1433	R>G		No	ClinGen ExAC gnomAD
rs891107433 CA55437191	1435	R>G		No	ClinGen TOPMed
CA1867308 rs749127961	1439	Q>*		No	ClinGen ExAC gnomAD
CA55437192 rs750550835	1440	G>C		No	ClinGen Ensembl
TCGA novel	1442	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770661976 CA1867309	1442	S>T		No	ClinGen ExAC gnomAD
CA55437201 rs868764139	1443	Q>K		No	ClinGen Ensembl
TCGA novel	1445	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759622830 CA1867311	1445	P>T		No	ClinGen ExAC gnomAD
rs772328929 CA1867312	1447	S>G		No	ClinGen ExAC gnomAD
CA55437209 rs978884534	1447	S>N		No	ClinGen Ensembl
CA348455440 rs1264440209	1448	L>F		No	ClinGen gnomAD
rs1429685216 CA348455474	1450	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1460506690 CA348455493	1451	L>I	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1453	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA55438727 rs997699742	1457	N>S		No	ClinGen TOPMed gnomAD
CA348456611 rs1354665235	1459	M>V		No	ClinGen gnomAD
rs1243052020 CA348456623	1460	I>S		No	ClinGen TOPMed
rs753495793 TCGA novel CA55438728	1461	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
CA1867335 rs747110436	1461	H>Y		No	ClinGen ExAC gnomAD
CA1867338 rs762351628	1465	I>V		No	ClinGen ExAC gnomAD
CA348456668 rs1260318636	1467	S>A		No	ClinGen gnomAD
rs765760622 CA1867339	1470	Q>P		No	ClinGen ExAC gnomAD
rs773515276 CA1867340	1477	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1485666047 CA348456765	1480	D>G		No	ClinGen gnomAD
CA1867342 rs767121760	1482	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1003831077 CA55438755	1483	S>A		No	ClinGen gnomAD
CA348456788 rs1033598472	1484	K>E		No	ClinGen gnomAD
rs1033598472 CA55438756	1484	K>Q		No	ClinGen gnomAD
rs752294353 CA1867343	1486	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1269689 rs755650412 CA1867344	1487	A>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1436358758 CA348456815	1488	K>E		No	ClinGen gnomAD
rs1558833102 CA348456822	1489	T>P		No	ClinGen Ensembl
CA55439015 rs915202347	1493	C>R		No	ClinGen Ensembl
CA348456925 rs1255657274	1493	C>Y		No	ClinGen gnomAD
CA348456976 rs1269875891	1496	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1269875891 CA348456974	1496	P>R		No	ClinGen TOPMed
CA348457022 rs1213960425	1500	E>K		No	ClinGen gnomAD
rs1486439797 CA348457040	1501	P>L		No	ClinGen gnomAD
rs761363700 CA1867364	1501	P>S		No	ClinGen ExAC gnomAD
rs1419952622 CA348457088	1505	A>T		No	ClinGen gnomAD
rs1254449881 CA348457096	1506	A>T		No	ClinGen gnomAD
CA348457105 rs1205878605	1507	V>A		No	ClinGen TOPMed
rs750336555 CA1867366	1507	V>M		No	ClinGen ExAC gnomAD
rs903457488 CA55439034	1508	R>Q		No	ClinGen TOPMed
CA1867367 rs758134900	1508	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1867368 rs779935269	1511	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1573640655 CA348457131	1512	E>A		No	ClinGen Ensembl
CA348457142 rs1463035351	1513	W>C		No	ClinGen gnomAD
rs145860116 CA348457146	1514	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145860116 CA348457145	1514	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1867369 rs145860116	1514	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1867370 rs755317056	1515	D>G		No	ClinGen ExAC gnomAD
CA348457155 rs755317056	1515	D>V		No	ClinGen ExAC gnomAD
CA348457162 rs1291058324	1516	Y>C		No	ClinGen gnomAD
rs565417201 CA1867371	1516	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1276811495 CA348457172	1517	D>E		No	ClinGen gnomAD
CA1867373 rs530864078	1517	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA1867374 rs778170956	1518	Q>*		No	ClinGen ExAC
CA1867375 rs550761984	1521	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs939206369 CA55439068	1523	L>V		No	ClinGen Ensembl
rs759864507 CA1867378	1526	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759864507 CA348457232	1526	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1867379 rs201486802	1526	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1867380 rs201486802	1526	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759864507 CA348457231	1526	R>S		No	ClinGen ExAC TOPMed gnomAD
CA348457239 rs1558833961	1527	F>S		No	ClinGen Ensembl
CA1867381 rs200412844	1529	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348457260 rs1191447460	1530	E>G		No	ClinGen TOPMed gnomAD
CA1867382 rs764740269	1531	K>E		No	ClinGen ExAC gnomAD
CA1867383 rs750339160	1533	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1867384 rs750339160	1533	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1535	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348457290 rs1403861536	1535	A>T		No	ClinGen gnomAD
rs1453432767 CA348457300	1536	L>P		No	ClinGen gnomAD
rs1261816408 CA348457306	1537	Y>C		No	ClinGen TOPMed
CA55439096 rs978811820	1541	T>K		No	ClinGen Ensembl
rs777968974 CA1867392	1542	K>E		No	ClinGen ExAC gnomAD
CA1867393 rs749325752	1544	P>Q		No	ClinGen ExAC gnomAD
CA348457355 rs1376308792	1544	P>S		No	ClinGen gnomAD
CA348457361 rs1284461889	1545	S>N		No	ClinGen gnomAD
rs1316137268 CA348457365	1545	S>R		No	ClinGen gnomAD
CA348457367 rs1214095888	1546	R>*		No	ClinGen gnomAD
CA1867394 rs141066610	1546	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1867395 rs200062024	1547	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1867397 rs772390615	1548	G>S		No	ClinGen ExAC gnomAD
CA348457561 rs1558835972	1548	G>V		No	ClinGen Ensembl
rs1439375504 CA348457579	1549	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1867413 rs576989451	1551	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1231667 CA55439966 rs1001527546	1552	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA1867414 rs754000327	1552	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1555	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760548439 CA55439971	1556	L>S		No	ClinGen Ensembl

No associated diseases with Q9NYU2

5 regional properties for Q9NYU2

Type	Name	Position	InterPro Accession
domain	Glucosyltransferase 24, catalytic domain	1256 - 1523	IPR040497
domain	UDP-glucose:glycoprotein glucosyltransferase, thioredoxin-like domain 4	727 - 955	IPR040525
domain	UGGT, thioredoxin-like domain 3	451 - 699	IPR040692
domain	UGGT, thioredoxin-like domain 1	57 - 234	IPR040693
domain	UGGT, thioredoxin-like domain 2	312 - 440	IPR040694

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum lumen Endoplasmic reticulum-Golgi intermediate compartment
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum quality control compartment	A subcompartment of the endoplasmic reticulum in which proteins with improper or incorrect folding accumulate. Enzymes in this compartment direct proteins with major folding problems to translocation to the cytosol and degradation, and proteins with minor folding problems to the ER, to interact with chaperon proteins.
endoplasmic reticulum-Golgi intermediate compartment	A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

2 GO annotations of molecular function

Name	Definition
UDP-glucose:glycoprotein glucosyltransferase activity	Catalysis of the addition of UDP-glucose on to asparagine-linked (N-linked) oligosaccharides of the form Man7-9GlcNAc2 on incorrectly folded glycoproteins.
unfolded protein binding	Binding to an unfolded protein.

4 GO annotations of biological process

Name	Definition
'de novo' post-translational protein folding	The process of assisting in the correct noncovalent folding of newly formed polypeptides or folding intermediates of polypeptides that have exited the ribosome and/or have been stabilized and transferred by other chaperone proteins. This process could involve several cycles of ATP hydrolysis.
endoplasmic reticulum mannose trimming	Any protein alpha-1,2-demannosylation that takes place in the endoplasmic reticulum quality control compartment (ERQC).
ER-associated misfolded protein catabolic process	The chemical reactions and pathways resulting in the breakdown of misfolded proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation.
protein N-linked glycosylation via asparagine	The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NYU1	UGGT2	UDP-glucose:glycoprotein glucosyltransferase 2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MGCKGDASGA	CAAGALPVTG	VCYKMGVLVV	LTVLWLFSSV	KADSKAITTS	LTTKWFSTPL
70	80	90	100	110	120
LLEASEFLAE	DSQEKFWNFV	EASQNIGSSD	HDGTDYSYYH	AILEAAFQFL	SPLQQNLFKF
130	140	150	160	170	180
CLSLRSYSAT	IQAFQQIAAD	EPPPEGCNSF	FSVHGKKTCE	SDTLEALLLT	ASERPKPLLF
190	200	210	220	230	240
KGDHRYPSSN	PESPVVIFYS	EIGSEEFSNF	HRQLISKSNA	GKINYVFRHY	IFNPRKEPVY
250	260	270	280	290	300
LSGYGVELAI	KSTEYKAKDD	TQVKGTEVNT	TVIGENDPID	EVQGFLFGKL	RDLHPDLEGQ
310	320	330	340	350	360
LKELRKHLVE	STNEMAPLKV	WQLQDLSFQT	AARILASPVE	LALVVMKDLS	QNFPTKARAI
370	380	390	400	410	420
TKTAVSSELR	TEVEENQKYF	KGTLGLQPGD	SALFINGLHM	DLDTQDIFSL	FDVLRNEARV
430	440	450	460	470	480
MEGLHRLGIE	GLSLHNVLKL	NIQPSEADYA	VDIRSPAISW	VNNLEVDSRY	NSWPSSLQEL
490	500	510	520	530	540
LRPTFPGVIR	QIRKNLHNMV	FIVDPAHETT	AELMNTAEMF	LSNHIPLRIG	FIFVVNDSED
550	560	570	580	590	600
VDGMQDAGVA	VLRAYNYVAQ	EVDDYHAFQT	LTHIYNKVRT	GEKVKVEHVV	SVLEKKYPYV
610	620	630	640	650	660
EVNSILGIDS	AYDRNRKEAR	GYYEQTGVGP	LPVVLFNGMP	FEREQLDPDE	LETITMHKIL
670	680	690	700	710	720
ETTTFFQRAV	YLGELPHDQD	VVEYIMNQPN	VVPRINSRIL	TAERDYLDLT	ASNNFFVDDY
730	740	750	760	770	780
ARFTILDSQG	KTAAVANSMN	YLTKKGMSSK	EIYDDSFIRP	VTFWIVGDFD	SPSGRQLLYD
790	800	810	820	830	840
AIKHQKSSNN	VRISMINNPA	KEISYENTQI	SRAIWAALQT	QTSNAAKNFI	TKMAKEGAAE
850	860	870	880	890	900
ALAAGADIAE	FSVGGMDFSL	FKEVFESSKM	DFILSHAVYC	RDVLKLKKGQ	RAVISNGRII
910	920	930	940	950	960
GPLEDSELFN	QDDFHLLENI	ILKTSGQKIK	SHIQQLRVEE	DVASDLVMKV	DALLSAQPKG
970	980	990	1000	1010	1020
DPRIEYQFFE	DRHSAIKLRP	KEGETYFDVV	AVVDPVTREA	QRLAPLLLVL	AQLINMNLRV
1030	1040	1050	1060	1070	1080
FMNCQSKLSD	MPLKSFYRYV	LEPEISFTSD	NSFAKGPIAK	FLDMPQSPLF	TLNLNTPESW
1090	1100	1110	1120	1130	1140
MVESVRTPYD	LDNIYLEEVD	SVVAAEYELE	YLLLEGHCYD	ITTGQPPRGL	QFTLGTSANP
1150	1160	1170	1180	1190	1200
VIVDTIVMAN	LGYFQLKANP	GAWILRLRKG	RSEDIYRIYS	HDGTDSPPDA	DEVVIVLNNF
1210	1220	1230	1240	1250	1260
KSKIIKVKVQ	KKADMVNEDL	LSDGTSENES	GFWDSFKWGF	TGQKTEEVKQ	DKDDIINIFS
1270	1280	1290	1300	1310	1320
VASGHLYERF	LRIMMLSVLK	NTKTPVKFWF	LKNYLSPTFK	EFIPYMANEY	NFQYELVQYK
1330	1340	1350	1360	1370	1380
WPRWLHQQTE	KQRIIWGYKI	LFLDVLFPLV	VDKFLFVDAD	QIVRTDLKEL	RDFNLDGAPY
1390	1400	1410	1420	1430	1440
GYTPFCDSRR	EMDGYRFWKS	GYWASHLAGR	KYHISALYVV	DLKKFRKIAA	GDRLRGQYQG
1450	1460	1470	1480	1490	1500
LSQDPNSLSN	LDQDLPNNMI	HQVPIKSLPQ	EWLWCETWCD	DASKKRAKTI	DLCNNPMTKE
1510	1520	1530	1540	1550
PKLEAAVRIV	PEWQDYDQEI	KQLQIRFQKE	KETGALYKEK	TKEPSREGPQ	KREEL