AiPD: Autoinhibited Protein Database

Q9NYU1

Gene name	UGGT2 (UGCGL2, UGT2)
Protein name	UDP-glucose:glycoprotein glucosyltransferase 2
Names	UGT2, hUGT2, UDP--Glc:glycoprotein glucosyltransferase 2, UDP-glucose ceramide glucosyltransferase-like 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55757
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1156-1251 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1156-1251 (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 Q9NYU1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NYU1-F1	Predicted				AlphaFoldDB

1301 variants for Q9NYU1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA388558360 rs1463726007	2	A>T		No	ClinGen gnomAD
rs1002260881 CA254292332	3	P>A		No	ClinGen Ensembl
rs751223701 CA7023298	3	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7023297 rs777774433	4	A>T		No	ClinGen ExAC gnomAD
CA388558264 rs1400912934	6	A>G		No	ClinGen TOPMed
CA7023296 rs758253087	7	T>R		No	ClinGen ExAC gnomAD
CA388558193 rs1310523017	9	V>A		No	ClinGen TOPMed
TCGA novel	10	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196089673 CA388558186	10	V>M		No	ClinGen gnomAD
rs1041068571 CA254292328	11	R>Q		No	ClinGen TOPMed gnomAD
CA254292329 rs868067503	11	R>W		No	ClinGen Ensembl
rs749583229 CA254292327	12	L>R		No	ClinGen TOPMed gnomAD
CA388558145 rs1323669722	13	L>P		No	ClinGen TOPMed gnomAD
CA388558147 rs1323669722	13	L>R		No	ClinGen TOPMed gnomAD
CA254292326 rs1008280597	15	G>S		No	ClinGen TOPMed
CA254292325 rs562569247	16	S>F		No	ClinGen 1000Genomes gnomAD
CA388557972 rs1337310428	20	W>*		No	ClinGen TOPMed
rs1217150159 CA388557942	22	S>L		No	ClinGen TOPMed
rs887222265 CA254292323	23	Q>H		No	ClinGen TOPMed
rs939816032 CA254292322	24	L>F		No	ClinGen gnomAD
CA388557896 rs886967830	25	G>C		No	ClinGen gnomAD
CA254292321 rs886967830	25	G>R		No	ClinGen gnomAD
rs374249272 CA254292320	26	S>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA7023289 rs773420029	27	G>R		No	ClinGen ExAC gnomAD
rs1182418685 CA388557830	28	T>M		No	ClinGen gnomAD
CA388557796 rs1202669673	31	A>S		No	ClinGen gnomAD
rs1202669673 CA388557800	31	A>T		No	ClinGen gnomAD
CA7023288 rs772486475	34	S>T		No	ClinGen ExAC TOPMed gnomAD
rs35573057 CA7023286	35	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA254292317 rs948334734	36	T>S		No	ClinGen TOPMed
CA388557673 rs572303288	37	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768992499 CA7023285	37	A>S		No	ClinGen ExAC gnomAD
rs572303288 CA7023284	37	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780604699 CA7023283	38	H>L		No	ClinGen ExAC gnomAD
CA254292315 rs991820737	38	H>Y		No	ClinGen TOPMed
CA254292314 rs956454418	40	A>P		No	ClinGen TOPMed
rs1314739070 CA388557613	40	A>V		No	ClinGen TOPMed gnomAD
rs540894276 CA7023282	41	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388557559 rs1408480821	43	W>G		No	ClinGen TOPMed gnomAD
rs1400251368 CA388557471	46	T>I		No	ClinGen gnomAD
CA388557456 rs1159109694	47	P>S		No	ClinGen gnomAD
CA388557421 rs1441417601	49	L>V		No	ClinGen TOPMed gnomAD
rs1230094115 CA388557396	50	L>R		No	ClinGen TOPMed
CA254292312 rs979275034	51	E>A		No	ClinGen TOPMed
rs1344968301 CA388557372	51	E>D		No	ClinGen TOPMed
rs979275034 CA388557380	51	E>G		No	ClinGen TOPMed
CA388557391 rs1383175158	51	E>K		No	ClinGen gnomAD
CA388557360 rs1200505613	52	A>G		No	ClinGen TOPMed
CA388551777 rs1268872706	54	E>K		No	ClinGen gnomAD
rs773029514 CA7023261	55	F>L		No	ClinGen ExAC gnomAD
CA388551722 rs1323912691	55	F>L		No	ClinGen gnomAD
CA254285883 rs558709329	56	M>V		No	ClinGen 1000Genomes TOPMed
CA388551525 rs1566844047	60	S>R		No	ClinGen Ensembl
CA7023259 rs367679687	61	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA388551471 rs1340238628	61	N>S		No	ClinGen gnomAD
CA7023257 rs142637925	62	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778614218 CA7023256	64	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1344943720 CA388551360	64	F>S		No	ClinGen gnomAD
rs754799207 CA7023255	66	Q>E		No	ClinGen ExAC gnomAD
rs779183301	71	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs201383964 CA254285867	73	E>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA254285864 rs1006535439	75	A>T		No	ClinGen TOPMed gnomAD
rs749243975 CA7023252	75	A>V		No	ClinGen ExAC gnomAD
rs779986676 CA7023251	77	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA7023250 rs756192903	79	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA254285852 rs202112823	80	T>R		No	ClinGen 1000Genomes
rs1212412423 CA388549010	83	D>N		No	ClinGen TOPMed gnomAD
rs1212412423 CA388549007	83	D>Y		No	ClinGen TOPMed gnomAD
rs1304846654 CA388548950	85	S>F		No	ClinGen gnomAD
rs1304846654 CA388548957	85	S>Y		No	ClinGen gnomAD
rs751740906 CA7023229	86	Y>C		No	ClinGen ExAC
CA388548945 rs1269622356	86	Y>H		No	ClinGen TOPMed
rs1311109996 CA388548905	87	Y>C		No	ClinGen gnomAD
rs559172638 CA7023226	87	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1450020595 CA388548888	88	N>D		No	ClinGen gnomAD
rs145527822 CA7023225	88	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA388548857 rs1164597023	89	L>I		No	ClinGen TOPMed gnomAD
rs1441762382 CA388548816	90	I>M		No	ClinGen TOPMed
CA388548812 rs1467181998	91	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1159060617 CA388548792	92	K>*		No	ClinGen gnomAD
CA254283131 rs938385242	94	A>T		No	ClinGen TOPMed
CA388548760 rs1420791982	94	A>V		No	ClinGen gnomAD
CA7023222 rs754393744	95	G>R		No	ClinGen ExAC gnomAD
CA7023221 rs767196287	95	G>V		No	ClinGen ExAC gnomAD
CA388548679 rs1183794333	100	N>D		No	ClinGen gnomAD
CA388548672 rs1484956164	100	N>S		No	ClinGen TOPMed gnomAD
CA388548674 rs1484956164	100	N>T		No	ClinGen TOPMed gnomAD
rs1260176170 CA388548648	102	H>D		No	ClinGen gnomAD
rs1260176170 CA388548647	102	H>Y		No	ClinGen gnomAD
rs775412615 CA7023219	104	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7023218 rs768317652	107	K>R		No	ClinGen ExAC gnomAD
rs974729212 CA254283108	108	F>C		No	ClinGen Ensembl
rs573514019 CA7023217	109	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7023214 rs781047282 CA254283089	112	I>L		No	ClinGen ExAC TOPMed gnomAD
rs770918231 CA7023212	112	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7023213 rs781047282	112	I>V		No	ClinGen ExAC TOPMed gnomAD
CA254283083 rs75147943	113	R>S		No	ClinGen Ensembl
rs940320620 CA254283080	114	A>V		No	ClinGen gnomAD
rs1287717904 CA388548468	115	Y>*		No	ClinGen gnomAD
rs747070611 CA7023211	116	S>C		No	ClinGen ExAC gnomAD
rs11551142 CA254283077	117	P>R		No	ClinGen Ensembl
CA7023208 rs574889711	118	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7023209 rs143906515	118	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377573656 CA7023205	119	I>N		No	ClinGen ESP ExAC gnomAD
rs377573656 CA7023206	119	I>S		No	ClinGen ESP ExAC gnomAD
CA7023207 rs370621107	119	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	120	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7023203 rs761263707	120	Q>H		No	ClinGen ExAC gnomAD
CA388548436 rs1249479406	120	Q>R		No	ClinGen TOPMed
CA388548426 TCGA novel rs1594593992	121	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs751034709 CA7023202	121	M>R		No	ClinGen ExAC TOPMed gnomAD
rs775107315 CA7023199	123	Q>H		No	ClinGen ExAC
CA7023200 rs551101109	123	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs760732818 CA7023175	125	I>F		No	ClinGen ExAC gnomAD
rs777484221 CA254282794	125	I>T		No	ClinGen Ensembl
CA7023176 rs760732818	125	I>V		No	ClinGen ExAC gnomAD
rs1304035295 CA388548323	126	A>G		No	ClinGen gnomAD
rs1390077072 CA388548312	127	A>G		No	ClinGen TOPMed gnomAD
CA7023174 rs369976408	129	E>K		No	ClinGen ESP ExAC gnomAD
rs1447822574 CA388548275	130	P>L		No	ClinGen TOPMed
rs1332339154 CA388548266	131	P>L		No	ClinGen gnomAD
rs139842451 CA7023173	132	P>R		No	ClinGen ESP ExAC gnomAD
rs1175720301 CA388548216	135	C>Y		No	ClinGen gnomAD
CA388548119 rs768954252	139	V>A		No	ClinGen ExAC gnomAD
rs768954252 CA7023170	139	V>G		No	ClinGen ExAC gnomAD
rs146008554 CA7023169	140	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388547559 rs1285138043	144	K>*		No	ClinGen TOPMed
rs1188796897 CA388547544	146	T>A		No	ClinGen TOPMed
rs1188796897 CA388547543	146	T>S		No	ClinGen TOPMed
rs1198908403 CA388547534	147	C>F		No	ClinGen TOPMed gnomAD
rs1198908403 CA388547536	147	C>Y		No	ClinGen TOPMed gnomAD
rs1458773587 CA388547522	149	I>V		No	ClinGen gnomAD
rs1202552346 CA388547470	154	K>M		No	ClinGen gnomAD
rs780511321 CA7023168	154	K>Q		No	ClinGen ExAC gnomAD
rs1202552346 CA388547473	154	K>T		No	ClinGen gnomAD
CA7023167 rs756416994	156	L>P		No	ClinGen ExAC gnomAD
TCGA novel	156	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388547423 rs1237472241	159	A>T		No	ClinGen gnomAD
CA388547394 rs1287500195	162	R>G		No	ClinGen TOPMed gnomAD
rs770211471 CA7023148	163	T>A		No	ClinGen ExAC gnomAD
CA7023147 rs746172565	164	R>G		No	ClinGen ExAC gnomAD
rs781739176 CA7023146	164	R>S		No	ClinGen ExAC gnomAD
CA388545283 rs1229615110	165	P>S		No	ClinGen TOPMed
rs141959858 CA7023141	169	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs753532489 CA7023140	170	G>R		No	ClinGen ExAC gnomAD
rs755958027 CA7023138	171	D>E		No	ClinGen ExAC gnomAD
rs1345806556 CA388545131	172	H>R		No	ClinGen gnomAD
rs1219390616 CA388545139	172	H>Y		No	ClinGen TOPMed gnomAD
CA254278522 rs752138361	173	K>T		No	ClinGen gnomAD
rs148108950 RCV000954977 CA7023137	175	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7023136 rs774720371	176	T>A		No	ClinGen ExAC gnomAD
CA7023135 rs761887754	177	N>D		No	ClinGen ExAC TOPMed gnomAD
CA388545046 rs761887754	177	N>H		No	ClinGen ExAC TOPMed gnomAD
rs751349526	177	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1293830177 CA388545038	177	N>S		No	ClinGen TOPMed gnomAD
CA7023133 CA254278506 rs147486921	179	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
rs1403417883 CA388544971	179	E>G		No	ClinGen gnomAD
CA388544967 rs1252018961	180	N>H		No	ClinGen TOPMed
CA388544921 rs1314300030	181	L>S		No	ClinGen TOPMed gnomAD
CA7023130 rs775807283	182	P>A		No	ClinGen ExAC TOPMed gnomAD
rs775807283 CA388544889	182	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7023131 rs775807283	182	P>T		No	ClinGen ExAC TOPMed gnomAD
CA388544840 rs769868774	184	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769868774 CA7023129	184	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7023128 rs557910215	187	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142967468 COSM198798 CA7023126	189	E>K	large_intestine Variant assessed as Somatic; 0.0002787 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7023125 rs778186407	192	T>A		No	ClinGen ExAC gnomAD
CA7023124 rs778186407	192	T>S		No	ClinGen ExAC gnomAD
CA7023123 rs570175844	193	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1423670698 CA388544598	195	F>C		No	ClinGen gnomAD
rs779784753 CA7023121	196	S>N		No	ClinGen ExAC
CA388544550 rs755759914	197	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7023120 rs755759914	197	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7023118 rs781187250	200	K>N		No	ClinGen ExAC gnomAD
rs367660141 CA254278469	201	V>I		No	ClinGen ESP
CA388544450 rs1222855581	202	L>*		No	ClinGen gnomAD
CA388544416 rs1305880386	203	S>P		No	ClinGen TOPMed
CA254278468 rs1010999205	204	E>V		No	ClinGen Ensembl
TCGA novel	206	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7023117 rs757110212	207	Q>K		No	ClinGen ExAC gnomAD
rs1238701208 CA388544270	208	N>S		No	ClinGen TOPMed
TCGA novel	209	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764078302 CA388544168	213	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs764078302 CA7023115	213	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1365490767 CA388544142	215	L>F		No	ClinGen gnomAD
CA7023114 rs187978646	216	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs373771877 CA7023113	216	R>H		No	ClinGen ESP ExAC gnomAD
CA388544101 rs1272038279	217	H>Y		No	ClinGen TOPMed
CA388541466 CA7023087 rs538261686	221	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA7023086 rs773604195	222	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	222	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388541457 rs773604195	222	P>R		No	ClinGen ExAC TOPMed gnomAD
rs566535536 CA7023085	223	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388541400 rs1056341076	225	R>L		No	ClinGen TOPMed gnomAD
CA254270686 rs1056341076	225	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA388541420 rs1210741379	225	R>W		No	ClinGen TOPMed gnomAD
CA388541373 rs1239230391	227	M>K		No	ClinGen gnomAD
CA254270679 rs921890292	227	M>V		No	ClinGen TOPMed
CA7023083 rs774913767	228	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA388541323 rs1311041972	230	S>P		No	ClinGen gnomAD
rs1302852165 CA388541265	234	V>G		No	ClinGen gnomAD
CA7023082 rs769188689	234	V>M		No	ClinGen ExAC gnomAD
CA7023081 rs745325927	238	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776458018 CA7023080	239	K>*		No	ClinGen ExAC gnomAD
rs770751363 CA7023079	240	S>N		No	ClinGen ExAC gnomAD
rs758209067 CA7023076 CA7023077	243	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA388541112 rs1414631735	245	A>V		No	ClinGen TOPMed gnomAD
rs778851978 CA7023074	246	L>Q		No	ClinGen ExAC gnomAD
rs766412827 CA388541074	248	D>G		No	ClinGen ExAC gnomAD
CA7023072 rs753874034	248	D>N		No	ClinGen ExAC gnomAD
rs766412827 CA7023071	248	D>V		No	ClinGen ExAC gnomAD
rs1287822632 CA388541060	249	T>I		No	ClinGen gnomAD
CA7023053 rs73562939 RCV000947537	255	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388540160 rs1257104254	257	T>I		No	ClinGen gnomAD
COSM949047 CA254268524 rs913966300	258	T>A	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1391866664 CA388540154	258	T>I		No	ClinGen gnomAD
rs968899707 CA254268522	261	D>H		No	ClinGen Ensembl
CA388540084 rs1295537090	263	T>A		No	ClinGen gnomAD
rs1464212425 CA388540076	263	T>I		No	ClinGen TOPMed gnomAD
CA388540087 rs1295537090	263	T>P		No	ClinGen gnomAD
rs1399650031 CA388540064	264	E>V		No	ClinGen gnomAD
CA7023051 rs138114015	267	E>D		No	ClinGen ESP ExAC gnomAD
rs1594535255 CA388540025	267	E>Q		No	ClinGen Ensembl
rs1374775530 CA388540012	268	V>I		No	ClinGen gnomAD
rs1485674461 CA388539996	269	Q>E		No	ClinGen TOPMed
CA7023050 rs757597342	269	Q>R		No	ClinGen ExAC gnomAD
rs576372179 CA7023049	271	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7023048 rs556243945	272	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA388539935 rs1248594210	273	F>L		No	ClinGen gnomAD
CA388539920 rs1195121373	274	G>W		No	ClinGen gnomAD
CA7023047 rs763615890	275	K>E		No	ClinGen ExAC gnomAD
CA7023045 rs765992614	276	L>V		No	ClinGen ExAC gnomAD
CA7023044 rs760206874	277	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs150344430 CA7023015	278	E>A		No	ClinGen ESP ExAC gnomAD
CA254292020 rs982484102	278	E>K		No	ClinGen TOPMed gnomAD
rs747260957 CA7023013	280	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	282	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758857411 CA7023011	285	D>E		No	ClinGen ExAC gnomAD
rs370994099 CA254292009	288	T>R		No	ClinGen ESP TOPMed
rs1450218092 CA388511566	289	A>V		No	ClinGen gnomAD
rs151160778 CA7023008	293	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs754285217 CA7023007	296	E>K		No	ClinGen ExAC gnomAD
CA7023005 rs756653398	297	S>N		No	ClinGen ExAC gnomAD
CA388511337 rs1339827654	297	S>R		No	ClinGen gnomAD
CA7023006 rs756653398	297	S>T		No	ClinGen ExAC gnomAD
rs1397956606 CA388511220	302	M>V		No	ClinGen TOPMed
CA7023002 rs763683143	303	P>S		No	ClinGen ExAC gnomAD
rs762565395 CA7023001	304	L>S		No	ClinGen ExAC gnomAD
TCGA novel	307	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144698764 CA7023000	308	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022999 rs765005114	310	Q>R		No	ClinGen ExAC gnomAD
CA7022968 rs770256082	311	D>A		No	ClinGen ExAC TOPMed gnomAD
rs770256082 CA388510554	311	D>G		No	ClinGen ExAC TOPMed gnomAD
rs550795432 CA254291004	320	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA388510350 rs1347229381	321	M>L		No	ClinGen gnomAD
rs1594513429 CA388510339	321	M>T		No	ClinGen Ensembl
CA388510347 rs1347229381	321	M>V		No	ClinGen gnomAD
CA388510298 rs12863903	323	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_030006 CA7022966 rs12863903	323	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757841447 CA7022965	323	A>V		No	ClinGen ExAC gnomAD
rs1188589432 CA388510283	324	P>A		No	ClinGen gnomAD
CA7022964 rs188996785	324	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388510235 rs1341812692	326	Y>*		No	ClinGen TOPMed
rs754835810 CA7022962	326	Y>C		No	ClinGen ExAC gnomAD
rs778381251 CA7022963	326	Y>N		No	ClinGen ExAC gnomAD
CA7022960 rs816142 VAR_030007	328	S>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs816142 CA388510207	328	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs816142 CA7022961	328	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1262156164 CA388510166	329	I>T		No	ClinGen gnomAD
CA388510094 rs1297790402	332	M>R		No	ClinGen gnomAD
CA7022959 rs760750825	333	K>E		No	ClinGen ExAC gnomAD
CA254290974 rs200277845	334	D>V		No	ClinGen 1000Genomes TOPMed
CA7022958 rs750381167	335	I>V		No	ClinGen ExAC gnomAD
rs1180742419 CA388509997	336	S>L		No	ClinGen TOPMed
CA388509982 rs1339163702	337	Q>R		No	ClinGen gnomAD
CA388509954 rs1278095041	339	F>L		No	ClinGen gnomAD
CA7022957 rs767709449	341	I>V		No	ClinGen ExAC gnomAD
rs761922592 CA7022956	342	K>T		No	ClinGen ExAC gnomAD
rs1272555113 CA388506947	345	S>C		No	ClinGen gnomAD
rs745490630 CA7022901	345	S>T		No	ClinGen ExAC gnomAD
rs757049371 CA7022899	347	T>N		No	ClinGen ExAC gnomAD
CA388506850 rs1317274309 COSM949046	350	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA388506826 rs1594507155	351	V>A		No	ClinGen Ensembl
CA254290131 rs934039569	351	V>I		No	ClinGen TOPMed
rs1325599325 CA388506786	353	Q>E		No	ClinGen gnomAD
CA7022898 rs746938227	354	H>N		No	ClinGen ExAC gnomAD
rs777720623 CA7022897	354	H>R		No	ClinGen ExAC gnomAD
rs867305495 CA254290120	355	M>I		No	ClinGen Ensembl
CA254290123 rs960484967	355	M>K		No	ClinGen gnomAD
rs1388126845 CA388506731	355	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	356	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144012178 CA7022896	356	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1408775440 CA388506649	357	E>*		No	ClinGen gnomAD
rs1461484074 CA388506465	361	E>K		No	ClinGen gnomAD
CA254290117 rs759528986	362	N>H		No	ClinGen Ensembl
CA388506367 rs1489605985	363	Q>H		No	ClinGen TOPMed
CA388506372 rs1247294771	363	Q>R		No	ClinGen TOPMed
CA388503108 rs764857010	365	D>E		No	ClinGen ExAC TOPMed gnomAD
CA388503105 rs1401377940	366	L>F		No	ClinGen gnomAD
rs766348813 CA7022865	370	F>R		No	ClinGen ExAC
CA7022864 rs759071311	370	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs963189042 CA254286387	372	I>S		No	ClinGen Ensembl
CA388503059 rs910023686	373	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA254286384 rs910023686	373	Q>E		No	ClinGen gnomAD
CA7022862 rs192124348	376	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs187205148 CA7022861	378	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148790612 CA7022860	378	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388503021 rs1270379907	379	L>P		No	ClinGen TOPMed
rs771762130 CA7022858	379	L>V		No	ClinGen ExAC gnomAD
CA388503018 rs1317002447	380	F>L		No	ClinGen gnomAD
rs1285822533 CA388503016	380	F>Y		No	ClinGen TOPMed gnomAD
CA388503005 rs1230907320	381	I>M		No	ClinGen TOPMed gnomAD
rs910565243 CA254286358	385	R>C		No	ClinGen TOPMed gnomAD
CA7022855 rs768744531	385	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7022856 rs768744531	385	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7022853 rs749326325	387	D>G		No	ClinGen ExAC gnomAD
CA7022850 rs746061546	388	M>I		No	ClinGen ExAC gnomAD
CA254286339 rs756404249	388	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7022851 rs756404249	388	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7022852 rs780073584	388	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	389	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781667381 CA7022849	389	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	390	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757508953 CA7022848	390	V>G		No	ClinGen ExAC gnomAD
rs764659165 CA7022846	393	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388502921 rs1185580048	395	S>G		No	ClinGen gnomAD
CA388502919 rs1486022440	395	S>N		No	ClinGen gnomAD
CA7022818 rs750111751	395	S>R		No	ClinGen ExAC gnomAD
CA254285638 rs988782076	397	L>V		No	ClinGen TOPMed gnomAD
CA388502287 rs1416762138	398	D>Y		No	ClinGen gnomAD
CA7022817 rs767036301	399	M>V		No	ClinGen ExAC gnomAD
CA7022816 rs780935476	404	G>E	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs544363344 CA7022815	405	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7022814 rs139369593	406	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022813 rs762941103	407	M>V		No	ClinGen ExAC gnomAD
CA388501948 rs1403572632	408	N>D		No	ClinGen TOPMed
rs775222627 CA7022812	408	N>S		No	ClinGen ExAC TOPMed gnomAD
CA388501865 rs374140865	410	L>F		No	ClinGen ESP ExAC gnomAD
rs374140865 CA7022810	410	L>I		No	ClinGen ESP ExAC gnomAD
rs143119399 CA7022808	411	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs140859099 CA7022807 COSM1269691	411	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA388501824 rs1269200862	412	N>D		No	ClinGen TOPMed
rs1433845737 CA388501804	412	N>S		No	ClinGen gnomAD
TCGA novel	413	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388501762 rs1375727195	413	L>P		No	ClinGen gnomAD
rs370146603 CA7022805	415	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs370146603 CA388501706	415	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs748705276 CA7022804	416	N>S		No	ClinGen ExAC gnomAD
CA254285603 rs919075473	420	M>T		No	ClinGen TOPMed
CA388501558 rs1473896999	420	M>V		No	ClinGen gnomAD
TCGA novel	422	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3688795 rs779238022 CA7022802	426	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1346620885 CA388501221	427	N>S		No	ClinGen TOPMed gnomAD
rs1248919708 CA388501160	429	H>L		No	ClinGen TOPMed
CA7022800 rs749940983	431	W>*		No	ClinGen ExAC gnomAD
rs376715820 CA7022801	431	W>S		No	ClinGen ExAC TOPMed gnomAD
rs531131001 CA7022799	432	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7022798 rs756958415	433	Y>C		No	ClinGen ExAC gnomAD
CA7022797 rs751205775	434	T>N		No	ClinGen ExAC gnomAD
rs751205775 CA388500985	434	T>S		No	ClinGen ExAC gnomAD
rs376371930 CA7022795	436	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA388500851 rs1355804206	438	D>G		No	ClinGen gnomAD
CA7022793 rs765130297	439	I>T		No	ClinGen ExAC gnomAD
CA7022794 rs373398399	439	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022792 rs147244556	440	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7022791 rs768425574	440	R>Q		No	ClinGen ExAC gnomAD
rs1566775149 CA388500744	441	H>L		No	ClinGen Ensembl
rs1305056533 CA388500688	443	S>F		No	ClinGen TOPMed
CA388500680 rs1458339973	444	I>V		No	ClinGen gnomAD
CA254285564 rs1036665785	445	M>I		No	ClinGen TOPMed
rs986068854 CA254285566	445	M>T		No	ClinGen Ensembl
CA7022777 rs752487459	449	D>E		No	ClinGen ExAC gnomAD
rs758041389 CA7022778	449	D>G		No	ClinGen ExAC gnomAD
CA388492418 rs1566744201	450	L>F		No	ClinGen Ensembl
TCGA novel	452	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388492319 rs1475272424	453	D>N		No	ClinGen gnomAD
CA7022775 rs759459365	454	D>Y		No	ClinGen ExAC gnomAD
CA254276929 rs898445436	456	Y>N		No	ClinGen TOPMed
CA388492162 rs766582124	457	I>F		No	ClinGen ExAC TOPMed gnomAD
CA7022773 rs766582124	457	I>V		No	ClinGen ExAC TOPMed gnomAD
rs546943397 CA7022770	459	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7022769 rs184984552	460	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1566744063 CA388492048	461	T>A		No	ClinGen Ensembl
CA388492031 rs1484399011	462	S>G		No	ClinGen TOPMed
rs931920094 CA254276915	466	L>R		No	ClinGen TOPMed
CA388491916 rs1338449413	467	L>M		No	ClinGen gnomAD
CA388491908 rs1297891621	467	L>Q		No	ClinGen gnomAD
rs769057412 CA7022767	469	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1440974563 CA388490987	471	F>S		No	ClinGen gnomAD
rs749760189 CA7022766	473	G>R		No	ClinGen ExAC gnomAD
rs775917051 CA7022765	475	V>I		No	ClinGen ExAC gnomAD
rs1170722213 CA388490814	478	I>M		No	ClinGen TOPMed gnomAD
CA7022764 rs369337575	478	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022761 rs758044970	479	R>S		No	ClinGen ExAC gnomAD
rs148056431 CA7022760 COSM242670	480	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7022759 COSM287508 rs201688380	480	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA388490758 rs1248404336	481	N>H		No	ClinGen gnomAD
rs753851368 CA7022757	481	N>K		No	ClinGen ExAC gnomAD
CA7022758 rs754747979	481	N>S		No	ClinGen ExAC gnomAD
rs938806415 CA254276862	483	H>D		No	ClinGen TOPMed
rs750377111 CA7022735	487	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7022734 rs767498248	491	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751750936 CA7022732	492	A>S		No	ClinGen ExAC TOPMed gnomAD
rs763141645 CA7022730	493	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA388490072 rs1412658266	494	E>*		No	ClinGen TOPMed gnomAD
rs1416815097 CA388489981	497	L>S		No	ClinGen gnomAD
rs765581866 CA7022728	498	D>G		No	ClinGen ExAC gnomAD
CA254276229 rs979708603	498	D>Y		No	ClinGen Ensembl
CA388489854 rs1191768615	503	A>T		No	ClinGen gnomAD
CA7022726 rs375843222	504	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372661498 CA7022727	504	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022724 rs189009329	507	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7022725 rs189009329	507	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7022722 rs768401379	510	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388489685 rs768401379	510	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1204945197 CA388489647	511	V>I		No	ClinGen TOPMed
CA7022721 rs748931926	512	P>L		No	ClinGen ExAC gnomAD
CA7022720 rs780057834	513	L>F		No	ClinGen ExAC
rs1440236090 CA388488603	516	G>C		No	ClinGen TOPMed gnomAD
rs1389979959 CA388488593	516	G>V		No	ClinGen gnomAD
CA7022698 rs769732775	518	V>A		No	ClinGen ExAC gnomAD
rs1566740782 CA388488557	518	V>M		No	ClinGen Ensembl
rs1566740770 CA388488539	519	F>Y		No	ClinGen Ensembl
rs1459271981 CA388488519	520	I>V		No	ClinGen gnomAD
rs745617497 CA7022697	522	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA7022695 rs770961346	523	T>R		No	ClinGen ExAC gnomAD
rs190180487 CA7022694	530	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388488221 rs1432051339	531	N>D		No	ClinGen gnomAD
CA254275718 rs1017095524	531	N>S		No	ClinGen TOPMed gnomAD
rs571602283 CA7022692	534	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7022693 rs777913755	534	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1206297999 CA388488110	535	V>I		No	ClinGen gnomAD
CA7022690 rs367854277	539	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA388488013 rs1005656298	539	R>P		No	ClinGen TOPMed gnomAD
rs1005656298 COSM697174 CA254275711	539	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA388488005 rs1233705537	540	A>P		No	ClinGen gnomAD
CA388488002 rs1233705537	540	A>S		No	ClinGen gnomAD
rs1331706502 COSM1579144 CA388487955	541	F>L	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA254275709 rs143611675	542	N>I		No	ClinGen ESP TOPMed
rs143611675 CA254275702	542	N>T		No	ClinGen ESP TOPMed
CA388487908 rs1301915311	543	Y>C		No	ClinGen gnomAD
CA388487887 rs1388512041	544	I>T		No	ClinGen gnomAD
rs755164410 CA7022689	547	E>K		No	ClinGen ExAC gnomAD
rs200898292 CA7022686	548	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022688 rs754276260	548	F>L		No	ClinGen ExAC gnomAD
rs200898292 CA7022687	548	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs750824279 CA7022685	549	D>G		No	ClinGen ExAC gnomAD
CA388487715 rs1171308371	549	D>Y		No	ClinGen gnomAD
rs867669795 CA254275682	550	I>K		No	ClinGen Ensembl
CA254275678 rs1003226943	551	S>L		No	ClinGen TOPMed
rs1177600677 CA388487624	552	E>G		No	ClinGen gnomAD
rs763710087 CA7022684	554	F>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7022683 rs762502925	555	I>F		No	ClinGen ExAC gnomAD
rs906149776 CA254275670	555	I>T		No	ClinGen TOPMed
CA254275665 rs997679613	556	S>C		No	ClinGen Ensembl
CA7022682 rs775311823	557	I>T		No	ClinGen ExAC gnomAD
rs1183405806 CA388487475	557	I>V		No	ClinGen gnomAD
rs187677432 CA7022680	558	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765020559 CA7022681	558	V>I		No	ClinGen ExAC gnomAD
rs373870674	559	H>=	Variant assessed as Somatic; 4.754e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1042166704 CA254275652	559	H>L		No	ClinGen TOPMed
rs748062037 CA7022652	565	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7022651 rs774477974	566	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1210658535 CA388485156	567	D>N		No	ClinGen TOPMed gnomAD
rs1210658535 CA388485153	567	D>Y		No	ClinGen TOPMed gnomAD
CA254271121 rs1017165397	568	Q>*		No	ClinGen TOPMed gnomAD
rs780090354 CA7022648	570	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7022649 rs749534947	570	I>V		No	ClinGen ExAC TOPMed gnomAD
rs756532917 CA7022647	571	L>R		No	ClinGen ExAC TOPMed gnomAD
rs746256015 CA7022646	573	V>L		No	ClinGen ExAC gnomAD
rs1364009833 CA388484848	575	N>S		No	ClinGen TOPMed gnomAD
rs1477348956 CA388484854	575	N>Y		No	ClinGen TOPMed
CA388484816 TCGA novel rs1403424306	577	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA388484703 rs1436600696	581	Q>K		No	ClinGen gnomAD
CA7022643 rs757907583	585	P>L		No	ClinGen ExAC gnomAD
rs1018031493 CA254271037	586	H>L		No	ClinGen gnomAD
CA388484519 rs1018031493	586	H>P		No	ClinGen gnomAD
rs1406331275 CA388484478	587	A>P		No	ClinGen gnomAD
rs1594388816 CA388484428	588	N>S		No	ClinGen Ensembl
rs1033336424 CA254271029	590	W>*		No	ClinGen TOPMed
rs752047541 CA7022642	591	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs149290628 CA7022641	594	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022640 rs754397624	595	I>M		No	ClinGen ExAC
rs138675751 CA7022638	596	H>R		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA7022636 rs144637958	601	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs375009300 CA7022635	602	E>Q		No	ClinGen ESP ExAC gnomAD
TCGA novel	603	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388483818 rs1244934240	604	K>R		No	ClinGen gnomAD
TCGA novel	605	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7022618 rs778105505	606	G>A		No	ClinGen ExAC gnomAD
rs1053007820 CA254268684	606	G>R		No	ClinGen TOPMed
rs778105505 CA388481867	606	G>V		No	ClinGen ExAC gnomAD
rs1566727179 CA388481705	610	Y>F		No	ClinGen Ensembl
CA388481598 rs1198616487	612	M>V		No	ClinGen gnomAD
CA388481494 rs1292248648	616	G>D		No	ClinGen TOPMed
CA388481500 rs1229060887	616	G>R		No	ClinGen TOPMed
rs1229060887 CA388481501	616	G>S		No	ClinGen TOPMed
rs535763223 CA7022616	617	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7022615 rs779606118	617	P>L		No	ClinGen ExAC gnomAD
CA388481453 rs1351425809	618	L>S		No	ClinGen gnomAD
CA7022613 rs750008183	620	Q>L		No	ClinGen ExAC gnomAD
CA388481330 rs1275506573	622	L>H		No	ClinGen gnomAD
CA388481273 rs1594381016	624	N>S		No	ClinGen Ensembl
rs761544639 CA388481248	625	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7022611 rs761544639	625	G>V		No	ClinGen ExAC TOPMed gnomAD
rs751528728 CA7022610	626	E>V		No	ClinGen ExAC gnomAD
CA388481192 rs763978613	627	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763978613 CA7022609	627	P>R		No	ClinGen ExAC TOPMed gnomAD
CA388481189 rs1566726951	628	F>I		No	ClinGen Ensembl
CA7022606 rs556110011	629	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs569880455 CA7022607	629	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs146461480 CA7022605	630	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146461480 CA7022604	630	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388481109 rs1594380887	633	M>V		No	ClinGen Ensembl
TCGA novel	634	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242868522 CA388481076	634	N>T		No	ClinGen TOPMed
rs1236503109 CA388481026	636	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7022603 rs776944512	637	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1443593737 CA388480993	637	E>G		No	ClinGen gnomAD
TCGA novel	637	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388480983 rs771454709	638	L>I		No	ClinGen ExAC gnomAD
TCGA novel	640	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388480883 rs1208580003	641	A>S		No	ClinGen gnomAD
CA388480861 rs1290666173	642	V>I		No	ClinGen gnomAD
CA7022600 rs778181614	645	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7022599 rs184940408	646	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7022598 rs748687221	647	M>L		No	ClinGen ExAC gnomAD
rs779431109 CA7022597	647	M>T		No	ClinGen ExAC gnomAD
rs750094369 CA7022595	649	A>T		No	ClinGen ExAC gnomAD
CA388480651 rs1456692346	649	A>V		No	ClinGen gnomAD
rs756870899 CA7022593	651	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1468118025 CA388480573	653	L>*		No	ClinGen TOPMed
CA7022592 rs751360083	654	Q>R		No	ClinGen ExAC gnomAD
CA7022591 rs763934749	655	R>K		No	ClinGen ExAC
TCGA novel	658	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	658	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762239651	659	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs762239651	659	L>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7022556 rs555370950	660	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767792520 CA7022554	662	L>*		No	ClinGen ExAC gnomAD
rs1167504149 CA388475367	663	N>H		No	ClinGen TOPMed gnomAD
rs151108485 CA7022553 COSM1231669	665	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7022552 COSM1368105 rs193238563	665	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA254260717 rs890115456	666	T>M		No	ClinGen TOPMed gnomAD
CA7022550 rs749779699	667	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1350842203 CA388475232	668	A>P		No	ClinGen gnomAD
rs540044487 COSM1128339 CA7022548	669	I>T	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs550395712 CA7022549	669	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs929024766 CA254260704	670	D>H		No	ClinGen TOPMed
CA7022547 rs746664447	670	D>V		No	ClinGen ExAC gnomAD
CA7022545 rs757958950	673	M>I		No	ClinGen ExAC TOPMed gnomAD
CA388475089 rs1484157801 COSM949040	673	M>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1566708430 CA388475107	673	M>V		No	ClinGen Ensembl
rs748027111 CA7022544	674	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1462696622 CA388475053	674	D>G		No	ClinGen TOPMed
CA7022543 rs142975988	675	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7022542 rs755036927	677	N>H		No	ClinGen ExAC gnomAD
CA7022541 rs753765101	678	V>I		No	ClinGen ExAC gnomAD
CA388474880 rs1410112527	679	V>A		No	ClinGen TOPMed gnomAD
rs558503141 CA7022539	679	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7022536 rs750639217	680	P>L		No	ClinGen ExAC gnomAD
CA388474846 rs750639217	680	P>R		No	ClinGen ExAC gnomAD
CA388474850 rs1594349065	680	P>T		No	ClinGen Ensembl
CA7022535 rs542625519	681	R>C		No	ClinGen ExAC TOPMed gnomAD
rs147927483 CA7022533	681	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751976912 CA7022532	683	N>S		No	ClinGen ExAC gnomAD
CA7022531 rs764437678	685	L>S		No	ClinGen ExAC gnomAD
rs373668000 CA7022530	686	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7022529 COSM252904 rs775927655	688	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA388474653 rs775927655	688	R>G		No	ClinGen ExAC TOPMed gnomAD
rs760274174 CA7022527	688	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7022528 rs760274174	688	R>L		No	ClinGen ExAC TOPMed gnomAD
rs775927655 CA254260630	688	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	690	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771818073 CA7022525	691	Q>*		No	ClinGen ExAC gnomAD
CA388474562 rs1566708031	691	Q>H		No	ClinGen Ensembl
rs1248470883 CA388474561	692	Q>K		No	ClinGen TOPMed
rs747753592 CA7022524	693	Y>*		No	ClinGen ExAC gnomAD
rs1594348871 CA388474536	693	Y>F		No	ClinGen Ensembl
CA7022523 rs778858833	694	L>F		No	ClinGen ExAC gnomAD
rs768516941 CA7022522	695	N>S		No	ClinGen ExAC gnomAD
CA7022521 rs749257175	697	I>V		No	ClinGen ExAC gnomAD
rs780095228 CA7022520	698	S>A		No	ClinGen ExAC TOPMed
rs1029585438 CA254260581	698	S>F		No	ClinGen TOPMed gnomAD
rs780095228 CA388474468	698	S>P		No	ClinGen ExAC TOPMed
rs1228744505 CA388474451	699	T>I		No	ClinGen gnomAD
rs62620239 CA7022501	701	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1310074521 CA388474431	701	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA254260471 rs764267138	702	T>I		No	ClinGen TOPMed gnomAD
CA7022500 rs745786271	705	V>A		No	ClinGen ExAC gnomAD
CA388474309 rs1159134643	705	V>I		No	ClinGen TOPMed
rs1346327422 CA388474286	706	E>K		No	ClinGen TOPMed
rs373624074 CA7022499	709	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs867853037 CA254260443	710	T>I		No	ClinGen Ensembl
rs1458646218 CA388474131 COSM1231671	711	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7022497 rs757225822	711	F>S		No	ClinGen ExAC
rs747264301 TCGA novel CA7022496	713	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed
CA7022495 rs371334164	715	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs758599308 CA7022494	717	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs765517644 CA7022492	718	D>A		No	ClinGen ExAC gnomAD
rs1448647345 CA388473901	718	D>E		No	ClinGen gnomAD
CA7022493 rs765517644	718	D>G		No	ClinGen ExAC gnomAD
rs993225084 CA254260426	718	D>N		No	ClinGen TOPMed gnomAD
rs755516566 CA7022491	719	K>T		No	ClinGen ExAC gnomAD
CA7022489 rs754246134	720	S>N		No	ClinGen ExAC
CA7022486 rs767080551	721	A>V		No	ClinGen ExAC gnomAD
CA7022484 rs773964145	722	V>E		No	ClinGen ExAC TOPMed gnomAD
CA254260354 rs905581688	724	A>P		No	ClinGen Ensembl
CA254260345 rs199749794	725	K>E		No	ClinGen Ensembl
CA388473638 rs1219030197	726	N>K		No	ClinGen TOPMed
CA388473622 rs1488271526	727	M>I		No	ClinGen TOPMed
CA7022482 rs762678357	727	M>V		No	ClinGen ExAC TOPMed gnomAD
rs775421146 CA7022481	728	Y>*		No	ClinGen ExAC gnomAD
rs1223588975 CA388473568	729	Y>C		No	ClinGen TOPMed
CA388473534 rs1323372725	730	L>*		No	ClinGen gnomAD
rs769407387 CA7022480	731	T>I		No	ClinGen ExAC gnomAD
rs745831486 CA7022479	732	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1306339226 CA388473478	732	Q>R		No	ClinGen TOPMed gnomAD
rs776383571	733	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1390929036 CA388473434	734	D>N		No	ClinGen gnomAD
rs1462011221 CA388472005	735	E>K		No	ClinGen TOPMed
COSM3764488 CA388471906 rs1431255445	736	S>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA254259501 rs374914289	736	S>R		No	ClinGen Ensembl
rs774947033 CA7022459	737	I>M		No	ClinGen ExAC gnomAD
rs1017292058 CA254259485	742	T>A		No	ClinGen gnomAD
CA7022457 rs759290036	742	T>N		No	ClinGen ExAC gnomAD
CA7022456 rs776464667	743	L>V		No	ClinGen ExAC TOPMed gnomAD
rs368744032 CA7022454	744	W>C		No	ClinGen ESP ExAC gnomAD
rs746946144 CA7022453	747	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7022452 rs773286884	748	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7022451 rs772084682	750	D>H		No	ClinGen ExAC gnomAD
CA388471537 rs1421108204	751	K>E		No	ClinGen TOPMed
CA7022450 rs140793510	753	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	753	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768888081 CA7022448	755	R>G		No	ClinGen ExAC gnomAD
rs1337450216 CA388471433	756	K>I		No	ClinGen gnomAD
rs1408185752 CA388471379	759	F>S		No	ClinGen gnomAD
rs1408275590 CA388471311	764	H>Y		No	ClinGen gnomAD
CA388471297 rs1175555598	765	M>I		No	ClinGen TOPMed
CA388494283 rs1244256302	766	K>E		No	ClinGen gnomAD
rs1195686839 CA388494174	769	V>A		No	ClinGen TOPMed
CA388494150 rs1566664770	771	S>C		No	ClinGen Ensembl
rs201544336 CA7022417	772	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7022418 rs778483829	772	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1296951333 CA388494038	775	I>V		No	ClinGen gnomAD
rs377570708 CA7022415	776	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA388493950 rs1362535618	780	T>A		No	ClinGen gnomAD
CA388493937 rs1290463261	780	T>I		No	ClinGen gnomAD
CA388493931 rs1433968581	781	S>P		No	ClinGen gnomAD
rs1020620771 CA254265037	782	K>E		No	ClinGen TOPMed gnomAD
rs1386213180 CA388493900	783	I>V		No	ClinGen TOPMed
CA7022414 rs202133446	784	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426014333 CA388493779	786	E>G		No	ClinGen gnomAD
rs1387842086 CA388493756	787	N>D		No	ClinGen gnomAD
CA7022413 rs750192355	790	I>V		No	ClinGen ExAC gnomAD
CA388493637 rs1441043584	791	S>C		No	ClinGen TOPMed
rs1429682753 CA388493655	791	S>T		No	ClinGen TOPMed gnomAD
CA388493611 rs1594276489	792	R>T		No	ClinGen Ensembl
CA388493576 rs1304929439	794	I>T		No	ClinGen TOPMed
CA388493583 rs1422215759	794	I>V		No	ClinGen gnomAD
CA388493552 rs1189875538	795	L>V		No	ClinGen gnomAD
CA388493511 rs1594276433	797	A>T		No	ClinGen Ensembl
rs1566664434 CA388493429	800	T>A		No	ClinGen Ensembl
CA7022409 rs200213739	801	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1482194866 CA388493367	802	K>M		No	ClinGen gnomAD
rs1032179347 CA388493366	802	K>N		No	ClinGen TOPMed gnomAD
rs1482194866 CA388493368	802	K>R		No	ClinGen gnomAD
CA388493338 CA254264981 rs958775498	803	N>K		No	ClinGen Ensembl
rs764164895 CA7022407	804	M>T		No	ClinGen ExAC gnomAD
CA388493271 rs763095678	808	S>C		No	ClinGen ExAC gnomAD
rs763095678 CA7022406	808	S>R		No	ClinGen ExAC gnomAD
rs1447884651 CA388493143	813	L>P		No	ClinGen gnomAD
rs369051560 CA254264956	814	A>T		No	ClinGen ESP gnomAD
rs1283668300 CA388493062	815	K>N		No	ClinGen gnomAD
CA7022404 rs770312273	816	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1194369790 CA388493012	817	E>*		No	ClinGen TOPMed
rs1034395257 CA254264933	818	I>T		No	ClinGen Ensembl
rs1297130265 CA388492983	818	I>V		No	ClinGen gnomAD
CA388492946 rs1334000103	819	A>G		No	ClinGen gnomAD
rs1052093948 CA254264929	819	A>T		No	ClinGen TOPMed
CA388492932 rs1417392752	820	T>I		No	ClinGen TOPMed
CA7022401 rs777122376	821	A>G		No	ClinGen ExAC TOPMed gnomAD
VAR_055849 CA7022402 rs33949518	821	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7022400 rs377439691	822	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747485004 CA7022399	823	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	823	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388492865 rs778301674	824	S>F		No	ClinGen ExAC gnomAD
CA7022398 rs778301674	824	S>Y		No	ClinGen ExAC gnomAD
CA7022396 rs748973786	826	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7022397 rs754464494	826	D>V		No	ClinGen ExAC TOPMed gnomAD
CA388492829 rs1471761769	826	D>Y		No	ClinGen gnomAD
CA388492793 rs1425188719	827	K>E		No	ClinGen gnomAD
rs1253020132 CA388492759	828	I>F		No	ClinGen TOPMed gnomAD
rs1594275928 CA388492754	828	I>M		No	ClinGen Ensembl
TCGA novel	828	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755736576 CA7022394	829	K>E		No	ClinGen ExAC TOPMed gnomAD
CA388492725 rs1322721601	829	K>R		No	ClinGen gnomAD
rs1225091843 CA388492703	830	T>K		No	ClinGen gnomAD
rs1348281362 CA388492646	832	L>F		No	ClinGen gnomAD
rs373377021 CA7022392	832	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388492617 rs757144066	833	I>F		No	ClinGen ExAC TOPMed gnomAD
CA388492616 rs199622790	833	I>N		No	ClinGen ExAC TOPMed gnomAD
CA7022390 rs199622790	833	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7022391 rs757144066	833	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7022375 rs572674618	835	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA254263285 rs371958839	836	M>I		No	ClinGen ESP TOPMed gnomAD
CA7022374 rs34249482	837	D>G		No	ClinGen ExAC TOPMed gnomAD
rs751482542 CA7022373	838	K>R		No	ClinGen ExAC gnomAD
CA7022372 rs751482542	838	K>T		No	ClinGen ExAC gnomAD
CA7022371 rs764131965	840	A>T		No	ClinGen ExAC gnomAD
rs1252099515 CA388491601	842	E>D		No	ClinGen TOPMed
rs994637998 CA254263258	844	K>N		No	ClinGen TOPMed gnomAD
rs758247143 CA7022370	845	Y>H		No	ClinGen ExAC gnomAD
CA388491526 rs1566660673	847	T>I		No	ClinGen Ensembl
CA388491531 rs1289088620	847	T>P		No	ClinGen gnomAD
CA388491523 rs1244608216	848	V>I		No	ClinGen gnomAD
rs752891729 CA7022369	851	N>S		No	ClinGen ExAC TOPMed gnomAD
rs765341836 CA7022368	854	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754066863 CA388491441	854	R>L		No	ClinGen ExAC gnomAD
rs754066863 CA7022366	854	R>P		No	ClinGen ExAC gnomAD
rs754066863 CA7022367	854	R>Q		No	ClinGen ExAC gnomAD
CA388491414 rs1326322699	856	H>Q		No	ClinGen TOPMed gnomAD
rs1319444084 CA388491407	857	Q>*		No	ClinGen gnomAD
rs905568375 CA254263240	857	Q>H		No	ClinGen TOPMed
rs1425525775 CA388491357	860	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761144799 CA7022363	860	C>R		No	ClinGen ExAC gnomAD
CA388491337 rs1459074845	861	Q>H		No	ClinGen gnomAD
CA254263223 rs976286076	863	V>I		No	ClinGen Ensembl
rs190052031 CA7022361	864	L>P		No	ClinGen 1000Genomes ExAC gnomAD
VAR_061196 CA7022360 rs35060832	865	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7022358 rs139265775	867	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022357 rs150786139	867	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs780856448 CA7022356	868	P>L		No	ClinGen ExAC gnomAD
CA254263184 rs1017556601	869	G>R		No	ClinGen Ensembl
rs770458253 CA7022355	870	E>G		No	ClinGen ExAC
rs746869994 CA7022354	872	G>D		No	ClinGen ExAC gnomAD
rs934550524 CA254263174	872	G>S		No	ClinGen TOPMed
CA388491191 rs1339328890	873	I>T		No	ClinGen gnomAD
CA388491196 rs1193543719	873	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	875	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777426650 CA7022351	875	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1239836377 CA388491153	876	N>S		No	ClinGen Ensembl
rs777636748 CA7022330	879	F>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1027168567 rs777636748 CA254259247 CA388489539	879	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs1411629523 CA388489511	880	L>I		No	ClinGen gnomAD
rs1001912892 CA254259205	881	G>V		No	ClinGen gnomAD
rs1240708083 CA388489459	882	P>T		No	ClinGen TOPMed
TCGA novel	887	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281971695 CA388489316	888	Y>C		No	ClinGen TOPMed
TCGA novel	889	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748126348 CA7022328	891	D>N		No	ClinGen ExAC gnomAD
CA388489221 rs1156509023	891	D>V		No	ClinGen gnomAD
TCGA novel	893	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388489143 rs1233860679	894	L>V		No	ClinGen TOPMed
rs754940718 CA7022326	899	T>I		No	ClinGen ExAC gnomAD
rs754004418 CA7022325	900	F>L		No	ClinGen ExAC TOPMed gnomAD
rs754004418 CA388488988	900	F>V		No	ClinGen ExAC TOPMed gnomAD
rs878981929 CA254259166	901	S>G		No	ClinGen Ensembl
rs374996873 CA254259138	901	S>N		No	ClinGen ESP TOPMed gnomAD
CA7022324 rs779989333	904	G>A		No	ClinGen ExAC gnomAD
rs779989333 CA388488876	904	G>E		No	ClinGen ExAC gnomAD
CA388488850 rs1204717152	905	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7022323 rs756367512	905	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7022321 rs767893618	910	I>V		No	ClinGen ExAC gnomAD
CA388488670 rs1221185671	914	M>I		No	ClinGen gnomAD
CA388488673 rs543273482	914	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7022320 rs543273482	914	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751891300 CA7022318	915	G>R		No	ClinGen ExAC TOPMed gnomAD
rs141361029 CA7022316	916	I>M		No	ClinGen ESP ExAC gnomAD
rs776209873 CA7022315	917	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7022314 rs765748755	917	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7022312 rs144777472	918	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1464517367 CA388488525	919	N>S		No	ClinGen TOPMed
rs1167741210 CA388488516	920	N>H		No	ClinGen TOPMed
CA7022293 rs765943232	920	N>K		No	ClinGen ExAC TOPMed gnomAD
rs760141936 CA7022292	921	M>V		No	ClinGen ExAC gnomAD
rs772822905 CA7022291	922	S>R		No	ClinGen ExAC gnomAD
rs35780499 VAR_055850 CA7022290	924	F>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs938830741 CA388488143	928	V>F		No	ClinGen TOPMed gnomAD
CA254258707 rs938830741	928	V>I		No	ClinGen TOPMed gnomAD
rs137916941 CA7022288	931	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200105863 CA7022286	932	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA388488058 rs768517135	932	M>K		No	ClinGen ExAC TOPMed gnomAD
CA7022287 rs768517135	932	M>R		No	ClinGen ExAC TOPMed gnomAD
CA388488007 rs1356702515	933	S>F		No	ClinGen TOPMed
CA388488031 rs1303254924	933	S>T		No	ClinGen gnomAD
CA254258701 rs980751438	935	V>L		No	ClinGen TOPMed
CA388487934 rs1271350791	937	K>E		No	ClinGen TOPMed
CA7022284 rs769741473 COSM949038	938	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769741473 CA7022285	938	R>G		No	ClinGen ExAC TOPMed gnomAD
rs781237559 CA7022283	938	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781237559 CA7022282	938	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769741473 CA388487895	938	R>S		No	ClinGen ExAC TOPMed gnomAD
rs748648913 CA254258681	939	A>T		No	ClinGen Ensembl
rs757543007 CA7022281	940	S>C		No	ClinGen ExAC gnomAD
CA7022280 rs143508056	941	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7022279 rs200668883	941	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200668883 CA7022278	941	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753072480 CA7022277	942	Y>C		No	ClinGen ExAC gnomAD
rs375495268 CA7022275	944	V>A		No	ClinGen ESP ExAC gnomAD
rs750017130 CA7022274	945	T>I		No	ClinGen ExAC gnomAD
CA7022273 rs767063901	946	F>L		No	ClinGen ExAC gnomAD
rs761575066 CA7022272	946	F>S		No	ClinGen ExAC gnomAD
CA388487685 rs1566650715	947	L>P		No	ClinGen Ensembl
rs1594254182 CA388487634	949	E>K		No	ClinGen Ensembl
rs751211429 CA7022271	950	N>Y		No	ClinGen ExAC gnomAD
CA7022251 rs752501760	954	I>M		No	ClinGen ExAC gnomAD
rs1310746337 CA388486477	954	I>T		No	ClinGen TOPMed gnomAD
CA7022252 rs762654808	954	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7022250 rs765016103	956	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7022249 rs186006407	956	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770823413 CA7022247	958	P>A		No	ClinGen ExAC gnomAD
CA254256482 rs1028228076	959	Q>L		No	ClinGen Ensembl
rs760790724 CA7022246	960	E>D		No	ClinGen ExAC gnomAD
rs773325556 CA7022245	961	N>K		No	ClinGen ExAC gnomAD
rs1242837482 CA388486329	962	D>N		No	ClinGen TOPMed
CA254256463 rs199834617	962	D>V		No	ClinGen Ensembl
rs772246714 CA7022243	963	M>T		No	ClinGen ExAC TOPMed gnomAD
rs967054269 CA254256453	964	F>C		No	ClinGen TOPMed
rs967054269 CA388486275	964	F>S		No	ClinGen TOPMed
rs1296005689 CA388486242	966	N>D		No	ClinGen gnomAD
rs1159964958 CA388486236	966	N>S		No	ClinGen gnomAD
rs1356756451 CA388486214	968	I>F		No	ClinGen TOPMed
CA388486202 rs1594246004	969	A>S		No	ClinGen Ensembl
CA388486187 rs1382105511	971	V>A		No	ClinGen gnomAD
CA7022242 rs748331515	971	V>L		No	ClinGen ExAC gnomAD
CA388486182 rs1460811704	972	D>G		No	ClinGen gnomAD
rs373194141 CA254256439	972	D>Y		No	ClinGen ESP TOPMed gnomAD
TCGA novel	973	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388486151 rs1256658598	975	T>I		No	ClinGen gnomAD
rs779154702 CA7022240	982	A>S		No	ClinGen ExAC gnomAD
CA388486013 rs1312275069	986	V>I		No	ClinGen gnomAD
rs775986383 CA7022220	987	V>A		No	ClinGen ExAC gnomAD
CA388485820 rs1266272552	988	L>R		No	ClinGen gnomAD
CA388485811 rs1198068652	989	G>D		No	ClinGen gnomAD
CA254254627 rs79938836	990	K>N		No	ClinGen gnomAD
rs770491985 CA7022219	991	I>V		No	ClinGen ExAC gnomAD
CA7022217 rs777162662	992	I>T		No	ClinGen ExAC gnomAD
CA7022218 rs746320142	992	I>V		No	ClinGen ExAC gnomAD
VAR_030008 rs12876018 CA7022215	994	M>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1259163572 CA388485757	994	M>R		No	ClinGen gnomAD
rs12876018 CA7022216	994	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388485738 rs1220808355	996	I>V		No	ClinGen gnomAD
CA7022213 rs138386051	999	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022214 rs138386051	999	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA388485249 rs1405767130	1000	M>T		No	ClinGen gnomAD
CA7022210 rs756055522	1001	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1389654774 CA388485057	1004	G>A		No	ClinGen gnomAD
COSM1706930 CA254254587 rs543498692	1004	G>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	1005	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7022208 rs141853446	1006	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388484949 rs1566640762	1006	L>P		No	ClinGen Ensembl
rs761997214 CA388484929	1008	E>A		No	ClinGen ExAC gnomAD
rs761997214 CA7022207	1008	E>G		No	ClinGen ExAC gnomAD
TCGA novel	1010	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7022206 rs774275487	1011	L>*		No	ClinGen ExAC gnomAD
CA7022205 rs764472696	1013	S>N		No	ClinGen ExAC gnomAD
CA388483651 rs1366366773	1015	Y>N		No	ClinGen gnomAD
rs200610064 CA254252638 COSM1562754	1016	R>C	large_intestine Variant assessed as Somatic; 4.668e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
COSM73193 rs778022471 CA7022167	1016	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs375243745 CA254252627	1017	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022166 rs375243745	1017	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA254252618 rs900632773	1020	E>D		No	ClinGen TOPMed
rs369028894 CA7022165	1021	P>A		No	ClinGen ExAC TOPMed gnomAD
rs763025652 CA254252609	1024	M>T		No	ClinGen TOPMed
rs570713157 CA7022164	1026	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7022162 rs754233418	1028	N>D		No	ClinGen ExAC gnomAD
CA7022161 rs372810297	1028	N>S		No	ClinGen ESP ExAC gnomAD
rs547683651 CA254252559	1029	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs879379947 CA254252577	1029	D>N		No	ClinGen Ensembl
CA388483197 rs147964392	1030	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022160 rs147964392	1030	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs144807217 CA7022159	1031	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369600465 CA7022158	1032	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022157 rs762502190	1033	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1034	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7022156 rs774972366	1034	G>R		No	ClinGen ExAC
CA7022154 rs745449269	1035	P>R		No	ClinGen ExAC gnomAD
CA7022155 rs769558627	1035	P>S		No	ClinGen ExAC gnomAD
rs1566635245 CA388483103	1036	V>L		No	ClinGen Ensembl
rs776499996 CA7022153	1038	K>E		No	ClinGen ExAC gnomAD
rs1311228823 CA388483028	1040	L>*		No	ClinGen gnomAD
rs770584966 CA7022152	1041	D>G		No	ClinGen ExAC gnomAD
rs1301387477 CA388483014	1041	D>N		No	ClinGen gnomAD
CA254252468 rs1002536074	1043	P>R		No	ClinGen TOPMed gnomAD
CA388482950 rs1413654666	1044	E>G		No	ClinGen TOPMed
CA388482894 rs1331329628	1046	P>L		No	ClinGen gnomAD
rs903023657 CA254252466	1046	P>S		No	ClinGen TOPMed
rs1566635106 CA388482891	1047	L>I		No	ClinGen Ensembl
rs1448165032 CA388482856	1049	I>T		No	ClinGen gnomAD
rs879096364 CA254252461	1050	L>F		No	ClinGen Ensembl
CA7022151 rs188157564	1052	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs777905196 CA7022150	1053	I>V		No	ClinGen ExAC gnomAD
CA388482750 rs1359926542	1056	E>K		No	ClinGen gnomAD
rs1417340417 CA388482714	1057	G>A		No	ClinGen gnomAD
CA7022149 rs758396566	1057	G>S		No	ClinGen ExAC gnomAD
TCGA novel	1057	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388482671 rs1272189189	1058	W>C		No	ClinGen TOPMed
rs748302470 CA388482702	1058	W>L		No	ClinGen ExAC gnomAD
CA7022148 rs748302470	1058	W>S		No	ClinGen ExAC gnomAD
CA388482667 rs1179738090	1059	L>V		No	ClinGen gnomAD
CA7022147 rs778790159	1060	V>F		No	ClinGen ExAC gnomAD
CA388482620 rs1342629917	1061	E>Q		No	ClinGen TOPMed
CA7022145 rs773119529	1064	H>R		No	ClinGen ExAC gnomAD
CA254252399 rs1020087997	1065	S>G		No	ClinGen TOPMed gnomAD
rs1256152335 CA388482447	1067	C>Y		No	ClinGen gnomAD
CA388482380 rs1314687123	1070	D>G		No	ClinGen gnomAD
rs766796223 CA388482391	1070	D>N		No	ClinGen ExAC TOPMed gnomAD
rs766796223 CA7022144	1070	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA388482356 rs1307862748	1071	N>S		No	ClinGen gnomAD
CA388482337 rs1484839539	1072	I>V		No	ClinGen TOPMed
CA7022143 rs756507620	1073	H>L		No	ClinGen ExAC TOPMed
CA254252387 rs978089928	1073	H>Q		No	ClinGen Ensembl
CA7022141 rs768073346	1075	K>N		No	ClinGen ExAC
CA7022142 rs765190350	1075	K>R		No	ClinGen ExAC TOPMed
CA7022140 rs201202361	1076	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs917843651 CA254247260	1077	T>A		No	ClinGen Ensembl
CA254247239 rs375759224	1078	E>V		No	ClinGen ESP TOPMed
CA254247230 rs990775298	1080	T>S		No	ClinGen Ensembl
CA388480244 rs1362389227	1082	T>A		No	ClinGen gnomAD
rs781014743 CA388480217	1082	T>I		No	ClinGen Ensembl
CA254247221 rs781014743	1082	T>R		No	ClinGen Ensembl
CA7022123 rs750855898	1086	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1088	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388480132 rs1214296988	1088	E>K		No	ClinGen TOPMed
rs201438290 CA7022122	1089	Y>*		No	ClinGen 1000Genomes ExAC
CA388480058 rs1166589117	1090	L>F		No	ClinGen gnomAD
CA7022121 rs757778313	1090	L>V		No	ClinGen ExAC gnomAD
CA7022118 rs147686486	1095	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431650204 CA388479934	1096	C>W		No	ClinGen TOPMed
rs995168040 CA254247135	1100	V>A		No	ClinGen Ensembl
rs1395708283 CA388479858	1101	T>I		No	ClinGen TOPMed
CA388479851 rs1437152533	1102	E>K		No	ClinGen TOPMed
rs1357640333 CA388479830	1103	Q>E		No	ClinGen TOPMed gnomAD
CA7022113 rs773154082	1104	P>L		No	ClinGen ExAC
CA7022114 rs368042833	1104	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7022111 rs373568136	1106	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs771941056 CA7022112	1106	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7022110 rs199906236	1107	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388479772 rs199906236	1107	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402064310 CA388479754	1107	G>V		No	ClinGen gnomAD
TCGA novel	1108	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1322948576 CA388479730	1109	Q>*		No	ClinGen TOPMed gnomAD
CA7022108 rs749389987	1111	T>I		No	ClinGen ExAC gnomAD
rs890587869 CA254247036	1112	L>P		No	ClinGen TOPMed gnomAD
CA388479643 rs1349363918	1112	L>V		No	ClinGen TOPMed
rs770011814 CA7022106	1113	G>C		No	ClinGen ExAC gnomAD
CA7022105 rs746036072	1114	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1051874581 CA254247027	1116	N>S		No	ClinGen TOPMed gnomAD
rs757578103 CA7022103	1118	P>T		No	ClinGen ExAC gnomAD
rs751924138 CA7022102	1119	A>T		No	ClinGen ExAC gnomAD
rs1197487582 CA388479494	1119	A>V		No	ClinGen gnomAD
CA254247004 rs906557574	1121	V>A		No	ClinGen TOPMed gnomAD
CA388479413 rs1244696898	1122	D>V		No	ClinGen TOPMed
CA388479402 rs1270010810	1123	T>S		No	ClinGen gnomAD
rs778195073 COSM272201 CA7022101	1124	I>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7022100 rs758937450	1125	V>M		No	ClinGen ExAC gnomAD
CA388479332 rs1332671939	1126	M>L		No	ClinGen TOPMed gnomAD
rs765960913 CA254246985	1127	A>G		No	ClinGen ExAC gnomAD
CA7022099 rs753290588	1127	A>T		No	ClinGen ExAC gnomAD
CA7022098 rs765960913	1127	A>V		No	ClinGen ExAC gnomAD
rs760425614 CA7022097	1128	H>R		No	ClinGen ExAC gnomAD
CA254246708 rs1009573311	1130	G>E		No	ClinGen TOPMed
CA388479128 rs1338349275	1130	G>R		No	ClinGen TOPMed gnomAD
CA388479115 rs1009573311	1130	G>V		No	ClinGen TOPMed
CA7022075 rs202222972	1131	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7022073 rs376216698	1133	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA254246656 rs1030483102	1133	Q>R		No	ClinGen Ensembl
rs1260095343 CA388479000	1134	L>S		No	ClinGen TOPMed
rs761525122 CA7022071	1136	A>V		No	ClinGen ExAC gnomAD
CA388478915 rs1180915597	1137	N>S		No	ClinGen TOPMed gnomAD
CA7022070 rs751319084	1138	P>S		No	ClinGen ExAC TOPMed gnomAD
CA388478855 rs1188563302	1139	G>D		No	ClinGen gnomAD
CA7022069 rs763895939	1139	G>R		No	ClinGen ExAC TOPMed gnomAD
CA388478869 rs763895939	1139	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1444325231 CA388478849	1140	A>T		No	ClinGen TOPMed gnomAD
CA7022068 rs200544724	1141	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775367431 CA7022067	1144	R>S		No	ClinGen ExAC TOPMed gnomAD
rs41315036 CA7022066	1145	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs933460084 CA254246616	1145	L>S		No	ClinGen TOPMed
rs776681071 CA7022063	1146	H>R		No	ClinGen ExAC gnomAD
CA254246603 rs941737672	1147	Q>R		No	ClinGen TOPMed
rs1347191451 CA388478564	1149	K>E		No	ClinGen TOPMed
rs902552378 CA254246602	1151	E>A		No	ClinGen TOPMed gnomAD
rs1354074998 CA388478480	1152	D>H		No	ClinGen gnomAD
CA7022061 rs747193670	1153	I>T		No	ClinGen ExAC gnomAD
CA7022062 rs771061301	1153	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7022060 rs773471946	1157	V>I		No	ClinGen ExAC TOPMed gnomAD
CA388478263 rs1204984436	1158	G>V		No	ClinGen TOPMed
rs765219391 CA7022045	1159	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7022044 CA388475033 rs759466374	1161	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776703852 CA7022043	1162	T>S		No	ClinGen ExAC gnomAD
rs1005782133 CA254237352	1164	S>A		No	ClinGen Ensembl
CA7022041 rs760837967	1165	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1487467755 CA388474923	1166	A>E		No	ClinGen gnomAD
rs1189499932 CA388474927	1166	A>S		No	ClinGen gnomAD
CA388474919 rs1487467755	1166	A>V		No	ClinGen gnomAD
rs1222203786 CA388474913	1167	D>N		No	ClinGen gnomAD
rs1469706049 CA611445238	1167	D>V		No	ClinGen gnomAD
CA388474897 rs368385741	1168	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388474896 rs1197682079	1168	L>Q		No	ClinGen gnomAD
rs368385741 CA7022039	1168	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772158893 CA7022038	1170	D>G		No	ClinGen ExAC TOPMed gnomAD
CA388474873 rs1318117166	1170	D>N		No	ClinGen TOPMed gnomAD
rs144674987 CA7022037	1171	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA254237322 rs953466125	1172	I>L		No	ClinGen Ensembl
CA7022036 rs774849362	1172	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1276018573 CA388474710	1178	F>L		No	ClinGen gnomAD
CA7022035 rs769293631 COSM552001	1179	K>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1398608137 CA388474697	1179	K>R		No	ClinGen gnomAD
CA7022034 rs376142489	1180	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA388474655 rs1466356860	1181	K>N		No	ClinGen TOPMed gnomAD
rs780875839 CA7022033	1183	L>F		No	ClinGen ExAC gnomAD
CA388474623 rs1299072567	1183	L>R		No	ClinGen gnomAD
rs756754997 CA7022032	1184	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1594178801 CA388474291	1188	K>E		No	ClinGen Ensembl
CA254234136 rs961692977	1188	K>R		No	ClinGen TOPMed
TCGA novel	1190	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746588052 CA7022009	1191	T>A		No	ClinGen ExAC
CA254234121 rs1014574709	1191	T>R		No	ClinGen TOPMed gnomAD
CA254234103 rs890515356	1195	K>*		No	ClinGen Ensembl
rs778709854 CA7022004	1197	D>E		No	ClinGen ExAC TOPMed gnomAD
rs149785094 CA7022006	1197	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444085451 CA388474119	1197	D>N		No	ClinGen gnomAD
rs149785094 CA7022005	1197	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1199	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7022003 rs754807797	1200	T>I		No	ClinGen ExAC gnomAD
CA388474049 rs780094109	1201	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7022001 COSM469629 rs780094109	1201	D>N	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755997673 CA7022000	1201	D>V		No	ClinGen ExAC gnomAD
CA388473999 rs1364081445	1203	D>N		No	ClinGen TOPMed
CA7021999 rs750519328	1203	D>V		No	ClinGen ExAC
rs1454218497 CA388473982	1204	E>K		No	ClinGen gnomAD
rs1365370022 CA388473945	1205	K>R		No	ClinGen gnomAD
rs762151537 CA388473895	1207	K>E		No	ClinGen ExAC gnomAD
rs762151537 CA7021996	1207	K>Q		No	ClinGen ExAC gnomAD
rs751794714 CA7021995	1208	G>R		No	ClinGen ExAC gnomAD
CA388473758 rs1189608362	1211	D>E		No	ClinGen TOPMed gnomAD
CA388473733 rs1261799005	1212	S>F		No	ClinGen TOPMed gnomAD
CA388473751 rs1487061399	1212	S>P		No	ClinGen gnomAD
rs199576538 CA7021994	1213	I>F		No	ClinGen ExAC TOPMed gnomAD
CA7021993 rs763460993	1214	K>E		No	ClinGen ExAC gnomAD
CA7021975 rs139961755	1219	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7021974 rs765464376	1220	L>W		No	ClinGen ExAC
CA7021973 rs760118579	1221	H>N		No	ClinGen ExAC gnomAD
CA388472481 rs1594171783	1221	H>R		No	ClinGen Ensembl
rs777043818 CA7021972	1223	E>K		No	ClinGen ExAC gnomAD
CA388472434 rs1299188795	1224	N>D		No	ClinGen gnomAD
rs766848564 CA7021971	1224	N>K		No	ClinGen ExAC TOPMed gnomAD
CA388472412 rs1395007073	1225	K>R		No	ClinGen gnomAD
rs1463760552 CA388472345	1228	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA254231250 rs978942204	1229	D>H		No	ClinGen Ensembl
rs1401566064 CA388472273	1232	N>S		No	ClinGen TOPMed gnomAD
rs1469401496 CA388472239	1234	F>V		No	ClinGen TOPMed
CA7021966 rs748831340	1237	A>V		No	ClinGen ExAC gnomAD
CA7021965 rs775380168	1239	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1455069016 CA388472115	1240	H>Y		No	ClinGen gnomAD
CA388472090 rs1255313500	1241	L>F		No	ClinGen gnomAD
CA388472079 rs1323965812	1242	Y>C		No	ClinGen TOPMed
CA7021964 rs372460259	1242	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7021963 rs745647896	1243	E>A		No	ClinGen ExAC gnomAD
CA7021962 rs781331814	1244	R>C		No	ClinGen ExAC TOPMed gnomAD
rs956955757 CA254231151	1244	R>H		No	ClinGen TOPMed gnomAD
rs956955757 CA254231150	1244	R>L		No	ClinGen TOPMed gnomAD
TCGA novel	1246	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388471938 rs1233501418	1247	R>*		No	ClinGen gnomAD
rs1594171490 CA388471936	1247	R>K		No	ClinGen Ensembl
CA388471728 rs1160615041	1249	M>I		No	ClinGen gnomAD
rs201505122 CA7021939	1249	M>L		No	ClinGen ExAC TOPMed gnomAD
CA254230099 rs972694676	1249	M>T		No	ClinGen Ensembl
TCGA novel	1251	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368054557 CA388471687	1252	S>F		No	ClinGen gnomAD
CA7021938 rs757932072	1252	S>P		No	ClinGen ExAC TOPMed gnomAD
CA254230081 rs912691427	1254	L>S		No	ClinGen gnomAD
rs1261088371 CA388471636	1255	R>C		No	ClinGen TOPMed gnomAD
CA7021937 rs367978080	1255	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388471628 rs367978080	1255	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA254230066 rs953933380	1259	T>A		No	ClinGen Ensembl
rs1452554568 CA388471548	1259	T>I		No	ClinGen gnomAD
CA388471542 rs1211463329	1260	P>A		No	ClinGen TOPMed
CA7021936 rs772083122	1261	V>M		No	ClinGen ExAC gnomAD
CA7021935 rs748235506	1263	F>S		No	ClinGen ExAC TOPMed gnomAD
rs755219228 CA7021933	1264	W>*		No	ClinGen ExAC gnomAD
rs1436973888 CA388471456	1264	W>S		No	ClinGen TOPMed
CA7021932 rs754206300	1267	K>E		No	ClinGen ExAC gnomAD
TCGA novel	1268	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs45473699 CA7021931	1268	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7021930 rs756634266	1269	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1269	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388471405 rs756634266	1269	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA7021928 rs555034597 COSM218444	1272	P>L	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1273	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_055851 rs9525072 CA7021926	1274	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA254229997 rs955930113	1274	F>L		No	ClinGen Ensembl
CA388471339 rs1566600855	1274	F>S		No	ClinGen Ensembl
rs1429443748 CA388471330	1275	K>N		No	ClinGen TOPMed
CA254272014 rs1052994255	1280	H>Y		No	ClinGen TOPMed gnomAD
CA388499565 rs1375714933	1281	M>T		No	ClinGen gnomAD
CA7021893 rs199990074	1281	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388499502 rs1301178738	1283	K>E		No	ClinGen gnomAD
CA388499455 rs937380104	1284	E>D		No	ClinGen TOPMed gnomAD
rs35123499 VAR_061197 RCV000947535 CA7021891	1285	Y>F		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7021892 rs771903539	1285	Y>H		No	ClinGen ExAC TOPMed
rs367639805 CA7021890	1288	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768738984 CA7021889	1288	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA388499292 rs1419310045	1289	Y>H		No	ClinGen gnomAD
TCGA novel	1289	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749336758 CA7021888	1289	Y>S		No	ClinGen ExAC gnomAD
rs746298339 CA388499213	1291	L>P		No	ClinGen ExAC gnomAD
rs746298339 CA7021885	1291	L>R		No	ClinGen ExAC gnomAD
CA7021886 rs769991208	1291	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388499170 rs1213704437	1293	Q>L		No	ClinGen gnomAD
CA388499158 rs1260510855	1294	Y>N		No	ClinGen gnomAD
CA388499134 rs747505429	1295	R>G		No	ClinGen ExAC TOPMed gnomAD
CA388499104 rs1378898019	1296	W>*		No	ClinGen TOPMed
CA388499099 rs1378898019	1296	W>C		No	ClinGen TOPMed
CA388499115 rs1329397356	1296	W>R		No	ClinGen TOPMed
rs563825068 CA7021880	1298	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7021879 rs544038565	1298	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7021877 rs755756370	1300	L>F		No	ClinGen ExAC gnomAD
CA254271787 rs1030271556	1301	R>C		No	ClinGen TOPMed gnomAD
COSM1368095 CA254271785 rs996482771	1301	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs750198206 CA7021876	1302	Q>*		No	ClinGen ExAC gnomAD
CA388498864 rs1162402055	1307	Q>*		No	ClinGen gnomAD
rs1259235846 CA388498808	1309	I>V		No	ClinGen TOPMed
rs1427272832 CA388498695	1313	Y>C		No	ClinGen gnomAD
rs774384801 CA7021873	1313	Y>H		No	ClinGen ExAC gnomAD
CA7021872 COSM3417749 rs763999611	1316	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1487075861 CA388498633	1317	F>C		No	ClinGen gnomAD
CA7021870 rs201650230	1319	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156468040 CA388498595	1320	V>I		No	ClinGen gnomAD
rs374990243 CA7021868	1322	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7021867 rs542629989	1323	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs771290547 CA7021866	1324	L>V		No	ClinGen ExAC TOPMed gnomAD
rs747308176 CA7021865	1325	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747308176 CA388498519	1325	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388498496 rs1488685407	1326	V>G		No	ClinGen gnomAD
CA7021864 rs376450207	1330	I>T		No	ClinGen ESP ExAC gnomAD
CA7021863 rs758966746	1333	D>G		No	ClinGen ExAC gnomAD
CA254271640 rs113987096	1334	A>V		No	ClinGen Ensembl
CA388496987 rs1226016666	1337	I>V		No	ClinGen TOPMed
CA388496955 rs528305209	1338	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528305209 CA7021849	1338	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388496909 rs1463980429	1339	R>I		No	ClinGen gnomAD
rs773641247 CA388496871	1340	H>L		No	ClinGen ExAC TOPMed gnomAD
CA7021847 rs773641247	1340	H>R		No	ClinGen ExAC TOPMed gnomAD
rs772716120 CA7021846	1341	D>A		No	ClinGen ExAC gnomAD
CA7021845 rs748616966	1342	L>V		No	ClinGen ExAC gnomAD
rs1255251880 CA388496708	1344	E>*		No	ClinGen TOPMed gnomAD
rs1255251880 CA388496706	1344	E>K		No	ClinGen TOPMed gnomAD
CA7021843 rs559674459	1344	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM949035 rs745345412 CA7021842	1346	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7021841 COSM3814165 rs780958570	1346	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA388496576 rs1161452638	1347	D>G		No	ClinGen TOPMed
CA7021837 rs141995671	1349	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs528860155 CA7021838	1349	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7021839 rs528860155	1349	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388496490 rs1233434155	1350	L>V		No	ClinGen gnomAD
CA388496435 rs1276340197	1351	D>G		No	ClinGen gnomAD
CA7021836 rs752594760	1351	D>N		No	ClinGen ExAC gnomAD
CA388496391 rs1236465633	1353	A>V		No	ClinGen gnomAD
CA7021834 rs186789804	1354	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs139312678 CA7021833	1355	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs1444901118 CA388496338	1355	Y>N		No	ClinGen TOPMed
rs139312678 CA7021832	1355	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA388496311 rs1373094298	1356	G>W		No	ClinGen gnomAD
CA388496290 rs1282441593	1357	Y>H		No	ClinGen TOPMed
rs1377938474 CA388496273	1358	T>A		No	ClinGen gnomAD
CA388496240 rs1435860314	1359	P>S		No	ClinGen gnomAD
rs563839769 CA7021829	1360	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1046858416 CA254270000	1362	D>N		No	ClinGen gnomAD
CA7021827 rs775045421	1364	R>C		No	ClinGen ExAC TOPMed gnomAD
rs142490993 CA7021826	1364	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388496079 rs775045421	1364	R>S		No	ClinGen ExAC TOPMed gnomAD
CA388496048 rs1238396278	1365	R>K		No	ClinGen TOPMed
rs3203995 CA254269948	1366	E>K		No	ClinGen Ensembl
rs780502357 CA7021824	1368	D>A		No	ClinGen ExAC TOPMed gnomAD
rs780502357 CA388495879	1368	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7021823 rs145358686 RCV000954740	1369	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7021822 rs769031474	1371	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1203096176 CA388495767	1371	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA388495651 rs1485837570	1375	T>R		No	ClinGen gnomAD
CA388495640 rs1594155467	1376	G>V		No	ClinGen Ensembl
TCGA novel	1378	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA254269897 rs910831143	1378	W>G		No	ClinGen gnomAD
TCGA novel	1378	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388495614 rs910831143	1378	W>R		No	ClinGen gnomAD
CA7021821 rs777580498	1379	A>T		No	ClinGen ExAC
rs1170310027 CA388495539	1380	S>L		No	ClinGen TOPMed
CA7021820 rs45454901	1381	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs45454901 CA7021819	1381	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7021818 rs778885691	1383	L>S		No	ClinGen ExAC gnomAD
rs753961181 CA7021816	1385	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7021817 rs140498019	1385	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA388495319 rs576679835	1387	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs542545312 CA7021815	1387	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1339922121 CA388495340	1387	Y>H		No	ClinGen TOPMed
rs956778783 CA254269784	1388	H>R		No	ClinGen TOPMed
rs750714217 CA7021813	1388	H>Y		No	ClinGen ExAC gnomAD
CA254269768 rs1035506882	1389	I>M		No	ClinGen TOPMed gnomAD
rs767824053 CA7021812	1389	I>V		No	ClinGen ExAC gnomAD
rs780546208 CA254269765	1390	S>N		No	ClinGen Ensembl
CA388495006 rs1402787774	1391	A>T		No	ClinGen gnomAD
rs1594153202 CA388494997	1391	A>V		No	ClinGen Ensembl
CA388494977 rs1233778162	1393	Y>C		No	ClinGen TOPMed
rs1026308378 CA254269108	1393	Y>H		No	ClinGen TOPMed
rs377389984 CA254269104	1395	V>A		No	ClinGen ESP TOPMed
rs1448027365 CA388494943	1396	D>H		No	ClinGen TOPMed
rs750515936 CA7021796	1400	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1467772465 CA388494814	1402	R>T		No	ClinGen TOPMed
CA388494778 rs1594153070	1403	I>M		No	ClinGen Ensembl
rs151282417 CA7021793	1403	I>T		No	ClinGen ESP ExAC gnomAD
CA7021794 rs35072323	1403	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1404	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143548603 CA254269076	1404	G>R		No	ClinGen ESP TOPMed gnomAD
rs764318415 CA7021792	1405	A>V		No	ClinGen ExAC gnomAD
rs1340590747 CA388494742	1406	G>D		No	ClinGen TOPMed gnomAD
CA7021790 rs775905974	1407	D>E		No	ClinGen ExAC gnomAD
CA7021791 rs556590476	1407	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7021789 rs765754637	1408	R>S		No	ClinGen ExAC gnomAD
rs952507435 CA254269056	1409	L>F		No	ClinGen Ensembl
rs1438853111 CA388494599	1412	Q>*		No	ClinGen gnomAD
CA388494582 rs1566591367	1412	Q>R		No	ClinGen Ensembl
CA388494549 rs1328220878	1413	Y>*		No	ClinGen TOPMed gnomAD
CA7021786 rs772639699	1413	Y>C		No	ClinGen ExAC gnomAD
rs1409307368 CA388494535	1414	Q>E		No	ClinGen gnomAD
rs546212759 CA7021785	1416	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546212759 CA388494483	1416	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7021784 rs747745025	1419	D>E		No	ClinGen ExAC gnomAD
CA388494364 rs1393426917	1421	N>K		No	ClinGen TOPMed
rs768375359 CA7021782	1423	L>H		No	ClinGen ExAC gnomAD
CA7021783 rs774229405	1423	L>V		No	ClinGen ExAC gnomAD
CA388494229 rs1489234446	1425	N>K		No	ClinGen gnomAD
CA388494186 rs1440492336	1426	L>P		No	ClinGen TOPMed
CA7021780 rs369727994	1427	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs577357351 CA254269010	1428	Q>K		No	ClinGen 1000Genomes gnomAD
CA388494110 rs1016313442	1428	Q>P		No	ClinGen TOPMed
CA254269005 rs1016313442	1428	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs758645332 CA7021753	1430	L>F		No	ClinGen ExAC gnomAD
CA7021752 rs193168605	1432	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7021751 rs193168605	1432	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755505591 CA7021750	1434	M>I		No	ClinGen ExAC gnomAD
CA388487295 rs1303342500	1434	M>R		No	ClinGen gnomAD
rs962844833 CA254257602	1437	Q>*		No	ClinGen TOPMed
CA7021748 rs761370972	1439	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7021747 rs761370972	1439	A>T		No	ClinGen ExAC TOPMed gnomAD
rs751073685 CA7021746	1441	K>E		No	ClinGen ExAC gnomAD
rs140034084 CA7021745	1443	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs762609868 CA7021744	1445	Q>E		No	ClinGen ExAC
CA388487151 rs1185074459	1445	Q>H		No	ClinGen gnomAD
CA254257554 rs369789623	1446	D>E		No	ClinGen ESP
rs758221283 CA254257557	1446	D>G		No	ClinGen gnomAD
rs758221283 CA388487122	1446	D>V		No	ClinGen gnomAD
CA388487056 TCGA novel rs1555337211	1449	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs374165243 CA7021742	1449	W>G		No	ClinGen ExAC gnomAD
rs371516007 CA7021741	1450	C>G		No	ClinGen ExAC gnomAD
rs377563869 CA7021740	1450	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770982787 CA7021739	1453	W>L		No	ClinGen ExAC gnomAD
CA388486957 rs1594110261	1454	C>G		No	ClinGen Ensembl
rs373118035 CA7021738	1454	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA388486923 rs1369389533	1455	D>E		No	ClinGen TOPMed
CA388486942 rs1271359700	1455	D>N		No	ClinGen gnomAD
rs1407769289 CA388486911	1456	D>N		No	ClinGen TOPMed
CA388486893 rs1232808256	1457	E>K		No	ClinGen gnomAD
CA7021737 rs574577275	1459	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs772201957 CA7021736	1459	K>R		No	ClinGen ExAC gnomAD
CA388486846 rs772201957	1459	K>T		No	ClinGen ExAC gnomAD
CA388486805 rs1359637169	1461	R>G		No	ClinGen gnomAD
rs1035277465 CA254257512	1464	T>I		No	ClinGen TOPMed gnomAD
rs779073667 CA7021733	1465	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1467	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7021710 rs781521598	1468	C>Y		No	ClinGen ExAC gnomAD
rs562824368 CA7021709	1471	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA388485396 rs1229018746	1471	P>S		No	ClinGen gnomAD
TCGA novel	1472	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566562168 CA388485091	1476	S>F		No	ClinGen Ensembl
CA7021707 rs752245489	1481	A>V		No	ClinGen ExAC gnomAD
CA7021705 rs552608449	1484	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs974019814 CA254255196	1485	V>A		No	ClinGen Ensembl
CA7021704 rs753703408	1485	V>F		No	ClinGen ExAC gnomAD
CA388484813 rs1303029673	1486	P>S		No	ClinGen Ensembl
rs751691884 CA7021703	1488	W>R		No	ClinGen ExAC gnomAD
CA254255189 rs994837771	1490	E>*		No	ClinGen TOPMed
CA388484697 rs1432113348	1490	E>A		No	ClinGen gnomAD
rs760352498 CA7021702	1491	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1491	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388484643 rs1444169880	1492	D>G		No	ClinGen TOPMed
CA388484661 rs1266712182	1492	D>Y		No	ClinGen gnomAD
rs1173333361 COSM1322807 CA388484630	1493	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA254255183 rs939917062	1494	E>G		No	ClinGen Ensembl
rs866224658 CA254255179	1496	R>G		No	ClinGen Ensembl
rs11616440 CA254255176	1497	Q>R		No	ClinGen Ensembl
rs146015664 CA7021701	1502	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs767340666 CA7021699	1505	K>R		No	ClinGen ExAC TOPMed gnomAD
rs986452169 CA254255164	1508	D>G		No	ClinGen TOPMed gnomAD
CA388484072 rs1277937344	1508	D>H		No	ClinGen TOPMed gnomAD
CA388484005 rs1196990535	1509	T>K		No	ClinGen TOPMed
rs907777890 CA254230121	1510	I>M		No	ClinGen TOPMed
rs752716391 CA388472065 CA7021651	1511	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1469413964 CA388472020	1513	H>R		No	ClinGen TOPMed
rs745406364 CA254230113	1514	D>G		No	ClinGen Ensembl

No associated diseases with Q9NYU1

5 regional properties for Q9NYU1

Type	Name	Position	InterPro Accession
domain	Glucosyltransferase 24, catalytic domain	1231 - 1498	IPR040497
domain	UDP-glucose:glycoprotein glucosyltransferase, thioredoxin-like domain 4	713 - 933	IPR040525
domain	UGGT, thioredoxin-like domain 3	438 - 686	IPR040692
domain	UGGT, thioredoxin-like domain 1	45 - 225	IPR040693
domain	UGGT, thioredoxin-like domain 2	297 - 425	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

5 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.
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.

3 GO annotations of biological process

Name	Definition
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
Q9NYU2	UGGT1	UDP-glucose:glycoprotein glucosyltransferase 1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAPAKATNVV	RLLLGSTALW	LSQLGSGTVA	ASKSVTAHLA	AKWPETPLLL	EASEFMAEES
70	80	90	100	110	120
NEKFWQFLET	VQELAIYKQT	ESDYSYYNLI	LKKAGQFLDN	LHINLLKFAF	SIRAYSPAIQ
130	140	150	160	170	180
MFQQIAADEP	PPDGCNAFVV	IHKKHTCKIN	EIKKLLKKAA	SRTRPYLFKG	DHKFPTNKEN
190	200	210	220	230	240
LPVVILYAEM	GTRTFSAFHK	VLSEKAQNEE	ILYVLRHYIQ	KPSSRKMYLS	GYGVELAIKS
250	260	270	280	290	300
TEYKALDDTQ	VKTVTNTTVE	DETETNEVQG	FLFGKLKEIY	SDLRDNLTAF	QKYLIESNKQ
310	320	330	340	350	360
MMPLKVWELQ	DLSFQAASQI	MSAPVYDSIK	LMKDISQNFP	IKARSLTRIA	VNQHMREEIK
370	380	390	400	410	420
ENQKDLQVRF	KIQPGDARLF	INGLRVDMDV	YDAFSILDML	KLEGKMMNGL	RNLGINGEDM
430	440	450	460	470	480
SKFLKLNSHI	WEYTYVLDIR	HSSIMWINDL	ENDDLYITWP	TSCQKLLKPV	FPGSVPSIRR
490	500	510	520	530	540
NFHNLVLFID	PAQEYTLDFI	KLADVFYSHE	VPLRIGFVFI	LNTDDEVDGA	NDAGVALWRA
550	560	570	580	590	600
FNYIAEEFDI	SEAFISIVHM	YQKVKKDQNI	LTVDNVKSVL	QNTFPHANIW	DILGIHSKYD
610	620	630	640	650	660
EERKAGASFY	KMTGLGPLPQ	ALYNGEPFKH	EEMNIKELKM	AVLQRMMDAS	VYLQREVFLG
670	680	690	700	710	720
TLNDRTNAID	FLMDRNNVVP	RINTLILRTN	QQYLNLISTS	VTADVEDFST	FFFLDSQDKS
730	740	750	760	770	780
AVIAKNMYYL	TQDDESIISA	VTLWIIADFD	KPSGRKLLFN	ALKHMKTSVH	SRLGIIYNPT
790	800	810	820	830	840
SKINEENTAI	SRGILAAFLT	QKNMFLRSFL	GQLAKEEIAT	AIYSGDKIKT	FLIEGMDKNA
850	860	870	880	890	900
FEKKYNTVGV	NIFRTHQLFC	QDVLKLRPGE	MGIVSNGRFL	GPLDEDFYAE	DFYLLEKITF
910	920	930	940	950	960
SNLGEKIKGI	VENMGINANN	MSDFIMKVDA	LMSSVPKRAS	RYDVTFLREN	HSVIKTNPQE
970	980	990	1000	1010	1020
NDMFFNVIAI	VDPLTREAQK	MAQLLVVLGK	IINMKIKLFM	NCRGRLSEAP	LESFYRFVLE
1030	1040	1050	1060	1070	1080
PELMSGANDV	SSLGPVAKFL	DIPESPLLIL	NMITPEGWLV	ETVHSNCDLD	NIHLKDTEKT
1090	1100	1110	1120	1130	1140
VTAEYELEYL	LLEGQCFDKV	TEQPPRGLQF	TLGTKNKPAV	VDTIVMAHHG	YFQLKANPGA
1150	1160	1170	1180	1190	1200
WILRLHQGKS	EDIYQIVGHE	GTDSQADLED	IIVVLNSFKS	KILKVKVKKE	TDKIKEDILT
1210	1220	1230	1240	1250	1260
DEDEKTKGLW	DSIKSFTVSL	HKENKKEKDV	LNIFSVASGH	LYERFLRIMM	LSVLRNTKTP
1270	1280	1290	1300	1310	1320
VKFWLLKNYL	SPTFKEVIPH	MAKEYGFRYE	LVQYRWPRWL	RQQTERQRII	WGYKILFLDV
1330	1340	1350	1360	1370	1380
LFPLAVDKII	FVDADQIVRH	DLKELRDFDL	DGAPYGYTPF	CDSRREMDGY	RFWKTGYWAS
1390	1400	1410	1420	1430	1440
HLLRRKYHIS	ALYVVDLKKF	RRIGAGDRLR	SQYQALSQDP	NSLSNLDQDL	PNNMIYQVAI
1450	1460	1470	1480	1490	1500
KSLPQDWLWC	ETWCDDESKQ	RAKTIDLCNN	PKTKESKLKA	AARIVPEWVE	YDAEIRQLLD
1510
HLENKKQDTI	LTHDEL