AiPD: Autoinhibited Protein Database

Q9Y4F3

Gene name	MARF1
Protein name	Meiosis regulator and mRNA stability factor 1
Names	Limkain-b1, Meiosis arrest female protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9665
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

585-749 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

585-749 (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

4 structures for Q9Y4F3

Entry ID	Method	Resolution	Chain	Position	Source
2DGX	NMR	-	A	789-871	PDB
2DIU	NMR	-	A	510-592	PDB
6FDL	X-ray	175 A	A/B	352-500	PDB
AF-Q9Y4F3-F1	Predicted				AlphaFoldDB

1150 variants for Q9Y4F3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA394843869 rs1352245582	2	M>R		No	TOPMed gnomAD ClinGen
CA394843871 rs1352245582	2	M>T		No	TOPMed gnomAD ClinGen
CA7920374 rs150196755	4	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7920372 rs187885447	5	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762304128 CA7920371	6	G>R		No	ExAC TOPMed gnomAD ClinGen
CA394843811 rs1162083192	7	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs772948899 CA7920370	9	N>D		No	ClinGen ExAC
CA7920369 rs769392299	9	N>K		No	ClinGen ExAC gnomAD
CA7920368 rs747781368	10	S>C		No	ExAC TOPMed gnomAD ClinGen
CA278581078 rs747781368	10	S>Y		No	ExAC TOPMed gnomAD ClinGen
rs1042045055 CA278581071	11	C>W		No	ClinGen TOPMed gnomAD
rs746091085 CA278581065	12	S>G		No	TOPMed gnomAD ClinGen
CA7920366 rs768437469	13	R>G		No	ExAC TOPMed gnomAD ClinGen
CA7920365 rs746976980	14	T>A		No	ClinGen ExAC gnomAD
TCGA novel	14	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394843725 rs746976980	14	T>P		No	ExAC gnomAD ClinGen
rs1016527357 CA278581051	15	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7920363 rs757386657	15	R>L		No	ExAC gnomAD ClinGen
CA278581048 rs1006764098	18	L>P		No	Ensembl ClinGen
CA394843552 rs1187816796	27	W>*		No	TOPMed ClinGen
rs370062296 CA7920361	31	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047959628 CA278581030	33	N>D		No	Ensembl ClinGen
rs1277228898 CA394843462	33	N>S		No	gnomAD ClinGen
rs756444469 CA7920360	34	C>W		No	ExAC gnomAD ClinGen
rs933380115 CA278581027	35	F>C		No	ClinGen Ensembl
rs752961345 CA7920359	36	S>F		No	ExAC TOPMed gnomAD ClinGen
CA394843421 rs1165854458	36	S>P		No	ClinGen TOPMed
rs779061671 CA7920358	37	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs377230821 CA7920357	37	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs752113664 CA7920356	38	P>S		No	ExAC gnomAD ClinGen
CA7920355 rs200032578	41	T>M	Variant assessed as Somatic; 0.0001392 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	41	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772650397 CA394843297	44	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7920353 rs772650397	44	H>R		No	ExAC TOPMed gnomAD ClinGen
rs1567595832 CA394843246	47	Q>*		No	ClinGen Ensembl
rs547953458 CA394843234	47	Q>H		No	1000Genomes ExAC gnomAD ClinGen
rs937500122 CA278580977	48	T>M		No	TOPMed gnomAD ClinGen
CA394842211 rs1333465607	49	K>T		No	gnomAD ClinGen
rs775188032 CA7920327	51	Y>S		No	ExAC gnomAD ClinGen
CA394842174 rs1415660146	53	E>D		No	ClinGen TOPMed gnomAD
CA394842116 rs1483682304	57	V>A		No	gnomAD ClinGen
rs916632075 CA278579022	57	V>I		No	ClinGen TOPMed gnomAD
rs759399708 CA278579020	58	A>S		No	Ensembl ClinGen
rs1182140243 CA394842095	59	V>L		No	gnomAD ClinGen
CA394842068 rs1240840385	61	L>I		No	ClinGen TOPMed gnomAD
CA278578978 rs748873139	62	K>N		No	Ensembl ClinGen
CA7920323 rs770000284	62	K>Q		No	ClinGen ExAC gnomAD
rs748200201 CA7920322	62	K>R		No	ExAC gnomAD ClinGen
rs777129759 CA278578973	63	D>E		No	ClinGen Ensembl
rs992155998 CA278578962	64	V>I		No	TOPMed gnomAD ClinGen
rs992155998 CA394842025	64	V>L		No	ClinGen TOPMed gnomAD
rs1196404690 CA394842009	65	P>L		No	TOPMed ClinGen
rs1380890542 CA394841982	67	P>H		No	ClinGen gnomAD
rs747226327 CA7920319	67	P>S		No	ClinGen ExAC gnomAD
rs747226327 CA394841989	67	P>T		No	ClinGen ExAC gnomAD
rs1596505823 CA394841975	68	L>I		No	ClinGen Ensembl
rs755856298 CA278578932	68	L>P		No	Ensembl ClinGen
rs758780330 CA7920317	69	H>P		No	ExAC gnomAD ClinGen
CA278578925 rs62036919	69	H>Y		No	ClinGen Ensembl
rs199627100 CA278578905	70	A>V		No	ESP TOPMed gnomAD ClinGen
rs750931454 CA394841957	71	G>A		No	ExAC gnomAD ClinGen
CA7920316 rs750931454	71	G>D		No	ClinGen ExAC gnomAD
CA394841951 rs1351501095	72	S>F		No	ClinGen gnomAD
CA394841944 rs1253053597	73	K>M		No	gnomAD ClinGen
rs765690258 CA7920315	74	L>V		No	ExAC TOPMed gnomAD ClinGen
rs1443712846 CA394841922	76	P>L		No	gnomAD ClinGen
rs1180111760 CA394841908	79	P>A		No	ClinGen gnomAD
rs756778698 CA7920314	79	P>L		No	ExAC TOPMed gnomAD ClinGen
CA394841895 rs1176034710	81	P>L		No	TOPMed gnomAD ClinGen
CA394841896 rs1176034710	81	P>R		No	ClinGen TOPMed gnomAD
CA7920313 rs375479252	81	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
COSM967387 CA7920312 rs375479252	81	P>T	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs775193529 CA7920311	83	I>N		No	ClinGen ExAC TOPMed gnomAD
rs775193529 CA7920310	83	I>T		No	ExAC TOPMed gnomAD ClinGen
rs557220118 CA7920308	84	R>C		No	ExAC TOPMed gnomAD ClinGen
CA278578866 COSM967386 rs370856672	84	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ESP TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs557220118 CA7920309	84	R>S		No	ExAC TOPMed gnomAD ClinGen
CA394841873 rs1357664906	85	S>F		No	gnomAD ClinGen
CA394841865 COSM1749423 rs1288493515	87	Q>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA394841851 rs1241111603	88	Q>H		No	ClinGen gnomAD
rs12598574 CA278578843	89	P>L		No	Ensembl ClinGen
CA278578832 rs776250161	91	I>L		No	ClinGen gnomAD
rs543703036 CA7920305	92	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs543703036 CA7920306	92	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA7920304 rs749216588	93	L>F		No	ExAC gnomAD ClinGen
CA278578809 rs1017181330	94	S>A		No	ClinGen TOPMed
TCGA novel	95	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768781611 CA394841808	96	V>I		No	ExAC gnomAD ClinGen
rs768781611 CA7920302	96	V>L		No	ClinGen ExAC gnomAD
CA394841795 rs1354789438	98	K>R		No	TOPMed ClinGen
TCGA novel	99	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423836922 CA394841771	101	C>F		No	ClinGen TOPMed gnomAD
CA394841773 rs1423836922	101	C>Y		No	TOPMed gnomAD ClinGen
rs1363478382 CA394841766	102	C>G		No	ClinGen gnomAD
CA394841767 rs1363478382	102	C>R		No	ClinGen gnomAD
CA278578792 rs539854536	102	C>W		No	ClinGen 1000Genomes TOPMed
CA7920301 rs747255289	102	C>Y		No	ExAC gnomAD ClinGen
CA394841762 rs1182492223	103	A>T		No	ClinGen TOPMed
CA278578789 rs578107086	104	H>Q		No	Ensembl ClinGen
CA394841751 rs1453976682	104	H>R		No	gnomAD ClinGen
rs1567591034 CA394841749	105	C>G		No	Ensembl ClinGen
rs780267989 CA7920300	107	N>K		No	ExAC TOPMed gnomAD ClinGen
CA278578779 rs377296079	108	E>K		No	ClinGen ESP TOPMed
TCGA novel	109	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394841721 rs1409092127	109	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA394841708 rs1381157589	111	T>P		No	TOPMed ClinGen
CA7920298 rs374006441	112	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA7920299 rs374006441	112	S>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1268681542 CA394841697	113	P>S		No	ClinGen TOPMed gnomAD
CA7920295 rs754337379	114	M>K		No	ExAC gnomAD ClinGen
CA7920296 rs376034508	114	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7920294 COSM1376058 rs201651611	115	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs755591509 CA7920293	115	R>H		No	ExAC TOPMed gnomAD ClinGen
rs752295259 CA7920292	116	F>L		No	ExAC gnomAD ClinGen
CA394841658 rs1380644454	117	G>D		No	ClinGen TOPMed
CA278578725 rs915559656	118	G>D		No	Ensembl ClinGen
CA7920290 rs759428016	118	G>S		No	ExAC gnomAD ClinGen
CA394841636 rs1313830681	119	G>D		No	ClinGen TOPMed
CA7920285 rs773273347	122	G>S		No	ExAC TOPMed gnomAD ClinGen
rs74009197 CA278578718	123	S>G		No	ClinGen Ensembl
rs184933726 CA7920282 COSM340427	124	G>R	lung [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs775595240 CA7920281	126	T>N		No	ClinGen ExAC TOPMed gnomAD
rs199507850 CA278578708	128	S>I		No	Ensembl ClinGen
rs1324760688 CA394841503	129	L>F		No	Ensembl ClinGen
CA394841492 rs1176399286	130	I>S		No	gnomAD ClinGen
CA394841485 rs1479756346	131	H>Y		No	ClinGen gnomAD
CA7920279 rs529399489	132	P>A		No	1000Genomes ExAC gnomAD ClinGen
CA394841469 rs1194858466	132	P>L		No	gnomAD ClinGen
CA394841467 rs1194858466	132	P>Q		No	gnomAD ClinGen
rs577708700 CA7920276	134	A>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs373810653 CA394841381	137	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373810653 CA7920273	137	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs201304999 CA278578647	138	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7920269 rs762780599	139	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	140	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750335270 CA7920267	142	R>G		No	ExAC TOPMed gnomAD ClinGen
CA394841244 rs376311813	142	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA278578614 rs200592606	142	R>T		No	ClinGen Ensembl
CA7920264 rs371965441	144	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	147	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394841193 rs1467714206	148	V>I		No	TOPMed gnomAD ClinGen
rs1426431692 CA394841176	149	G>E		No	ClinGen gnomAD
CA7920260 rs771287756	150	S>L		No	ClinGen ExAC gnomAD
CA7920258 rs778166789	151	G>E		No	ExAC TOPMed gnomAD ClinGen
CA7920257 rs770383369	154	F>L		No	ClinGen ExAC gnomAD
rs1242713304 CA394841106	156	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	156	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394841103 rs1191621431	157	A>T		No	ClinGen TOPMed
rs367599758 CA278578557	159	S>L		No	ClinGen ESP TOPMed gnomAD
CA394841044 rs1229140248	162	N>I		No	gnomAD ClinGen
rs1175659184 CA394841039	163	A>T		No	TOPMed ClinGen
CA394841017 rs754526660	165	A>P		No	ExAC TOPMed gnomAD ClinGen
CA7920254 rs754526660	165	A>T		No	ExAC TOPMed gnomAD ClinGen
CA7920253 rs751274790	167	N>S		No	ClinGen ExAC gnomAD
CA394840975 rs1326373988	168	N>S		No	ClinGen TOPMed
rs1313848074 CA394840961	169	L>F		No	gnomAD ClinGen
CA7920252 rs200415151	169	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758287677 CA7920251	170	A>V		No	ExAC gnomAD ClinGen
TCGA novel	171	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs564239208 CA7920250	171	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330196767 CA394840946	171	G>V		No	gnomAD ClinGen
CA394840917 rs1409871745	174	S>N		No	ClinGen TOPMed gnomAD
rs764904939 CA7920249	174	S>R		No	ExAC gnomAD ClinGen
rs757282554 CA7920248	175	D>G		No	ExAC TOPMed gnomAD ClinGen
CA7920245 rs374676888	176	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753704997 CA7920247	176	F>V		No	ClinGen ExAC TOPMed gnomAD
rs766540108 CA7920243	179	M>I		No	ClinGen ExAC TOPMed gnomAD
CA394840851 rs1233491618	181	L>R		No	gnomAD ClinGen
CA7920242 rs763065223	182	E>K		No	ClinGen ExAC TOPMed gnomAD
CA394840778 rs1211429747	188	C>S		No	ClinGen gnomAD
rs748750651 CA7920239	189	K>N		No	ClinGen ExAC TOPMed gnomAD
rs770049633 CA7920240	189	K>Q		No	ClinGen ExAC gnomAD
CA394840766 rs1290669779	189	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	191	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776949873 CA394840750	191	L>V		No	ExAC gnomAD ClinGen
rs768288566 CA7920237	193	C>Y		No	ClinGen ExAC gnomAD
CA7920236 rs746481052	197	L>F		No	ClinGen ExAC TOPMed gnomAD
rs779685787 CA7920235	197	L>P		No	ClinGen ExAC gnomAD
rs368379246 CA7920234	198	H>Y		No	ESP ExAC TOPMed ClinGen
rs750564689 CA278578420	199	F>L		No	ClinGen gnomAD
CA7920233 rs745500105	202	C>R		No	ClinGen ExAC TOPMed gnomAD
CA394840627 rs1365335229	203	H>R		No	gnomAD ClinGen
TCGA novel	204	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs920298200 CA278578412	205	N>S		No	ClinGen Ensembl
TCGA novel	206	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370959060 CA7920229	209	L>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA394840540 rs1468615896	210	H>R		No	ClinGen gnomAD
rs1165709567 CA394840544	210	H>Y		No	ClinGen TOPMed
TCGA novel	211	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394840524 rs1231163782	211	Q>R		No	gnomAD ClinGen
rs755072355 CA7920228	213	P>A		No	ClinGen ExAC gnomAD
CA7920227 rs201272348	213	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567589768 CA394840472	215	L>V		No	ClinGen Ensembl
CA394840455 rs377588367	216	Q>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA7920225 rs377588367	216	Q>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs773294303 CA7920224	217	G>C		No	ExAC ClinGen
rs765650369 CA7920223	218	C>F		No	ClinGen ExAC TOPMed gnomAD
CA278578370 rs765650369	218	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	219	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747484471 CA7920220	221	A>P		No	ExAC TOPMed gnomAD ClinGen
CA7920219 rs747484471	221	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA394840385 rs1406055282	222	G>D		No	ClinGen gnomAD
rs771691913 CA7920217	223	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs775204838 CA7920218	223	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1346025189 CA394840346	225	P>L		No	ClinGen gnomAD
CA7920215 rs778360959	226	C>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	226	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778360959 CA278578321	226	C>S		No	ClinGen ExAC TOPMed gnomAD
CA278578327 rs778360959	226	C>Y		No	ExAC TOPMed gnomAD ClinGen
CA7920214 rs375189343	228	D>H		No	ESP ExAC ClinGen
rs777523222 CA7920212	231	S>G		No	ExAC gnomAD ClinGen
rs192438053 CA7920209	232	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs192438053 CA7920210	232	G>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1247704259 CA394840251	233	A>P		No	gnomAD ClinGen
rs1247704259 CA394840253	233	A>T		No	ClinGen gnomAD
rs941367970 CA278578273	234	P>L		No	TOPMed gnomAD ClinGen
CA394840155 rs1472853243	241	I>V		No	TOPMed ClinGen
CA394840147 rs1197016491	242	S>A		No	gnomAD ClinGen
rs747244460 CA278578271	243	Q>H		No	Ensembl ClinGen
rs373435220 CA7920208 COSM1376057	244	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs893128522 CA278578265	245	E>D		No	ClinGen Ensembl
CA7920207 rs750665995	247	T>M		No	ExAC TOPMed gnomAD ClinGen
rs762264385 CA7920205	248	P>S		No	ExAC TOPMed gnomAD ClinGen
CA7920203 rs764544538	249	H>L		No	ClinGen ExAC TOPMed gnomAD
rs764544538 CA7920204	249	H>R		No	ExAC TOPMed gnomAD ClinGen
rs903125509 CA278578215	252	T>I		No	Ensembl ClinGen
rs1567589462 CA394840082	253	N>D		No	ClinGen Ensembl
CA7920202 rs761319649	253	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394840080 rs761319649	253	N>T		No	ClinGen ExAC TOPMed gnomAD
rs776078430 CA7920201	254	S>C		No	ClinGen ExAC gnomAD
rs949932971 CA278578177	258	N>S		No	ClinGen Ensembl
CA7920199 rs758927908	259	V>L		No	ExAC gnomAD ClinGen
rs1361065770 CA394840038	260	V>I		No	TOPMed gnomAD ClinGen
rs774074692 CA7920198	262	P>L		No	ClinGen ExAC gnomAD
CA7920195 rs370206932	266	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	269	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394839951 rs1419927218	269	L>V		No	ClinGen gnomAD
rs866445031 CA278578137	270	Y>H		No	ClinGen Ensembl
COSM1376056 rs748092725 CA7920193	272	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	273	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920167 rs778912945	281	N>S		No	ClinGen ExAC gnomAD
CA394839523 rs1245479110	282	S>N		No	gnomAD ClinGen
rs757352937 CA7920166	283	I>V		No	ExAC ClinGen
rs749523482 CA7920165	285	D>Y		No	ClinGen ExAC gnomAD
rs1297526389 CA394839437	286	A>T		No	gnomAD ClinGen
rs1407839482 CA394839421	286	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753161389 CA7920162	288	K>E		No	ExAC TOPMed gnomAD ClinGen
CA7920161 rs767892313	292	N>S		No	ExAC gnomAD ClinGen
TCGA novel	293	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1160667011 CA394839294	293	I>T		No	gnomAD ClinGen
rs1382965933 CA394839300	293	I>V		No	TOPMed gnomAD ClinGen
rs1354257309 CA394839261	296	P>S		No	ClinGen TOPMed
rs1419088791 CA394839256	297	N>H		No	ClinGen gnomAD
rs1250507599 CA394839248	297	N>S		No	gnomAD ClinGen
rs1175980371 CA394839231	298	T>I		No	TOPMed gnomAD ClinGen
rs952808742 CA394839173	302	P>L		No	TOPMed ClinGen
CA278577499 rs952808742	302	P>R		No	ClinGen TOPMed
rs1270020673 CA394839114	307	L>R		No	gnomAD ClinGen
rs1357594631 CA394839110	308	C>R		No	ClinGen gnomAD
rs765822598 CA7920158	311	C>W		No	ExAC gnomAD ClinGen
TCGA novel	311	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201712699 CA7920157	313	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA278577429 rs901160503	315	G>R		No	ClinGen TOPMed gnomAD
CA394838969 rs1212973866	319	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA394838953 rs1404038644	320	T>P		No	ClinGen TOPMed gnomAD
rs1290251981 CA394838939	321	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	325	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920153 rs368941979	327	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199152621 CA394838887	327	S>N		No	gnomAD ClinGen
rs375723335 CA7920138	336	G>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA394838202 rs1205668791	339	E>D		No	gnomAD ClinGen
CA394838197 rs1249607149	340	V>I		No	TOPMed ClinGen
TCGA novel	344	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920137 rs749989387	344	G>R		No	ClinGen ExAC gnomAD
CA394838117 rs1377746658	346	V>L		No	ClinGen Ensembl
rs1047633784 CA278576735	349	N>K		No	Ensembl ClinGen
rs1412359785 CA394838078	349	N>Y		No	ClinGen TOPMed
CA394838065 rs1252877621	350	L>V		No	gnomAD ClinGen
CA394838056 rs1227836187	351	P>H		No	gnomAD ClinGen
CA7920133 rs763798335	352	P>A		No	ExAC gnomAD ClinGen
rs760476370 CA7920132	352	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	353	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920131 rs775310970	353	I>V		No	ClinGen ExAC gnomAD
TCGA novel	357	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	357	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920128 rs368206502	364	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7920127 rs769981827	366	S>C		No	ExAC TOPMed ClinGen
rs1365614679 CA394837824	367	G>C		No	ClinGen TOPMed
CA7920125 rs781410076	368	R>Q		No	ExAC gnomAD ClinGen
CA278576681 rs200454458	368	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA394837767 rs1185646750	371	T>A		No	ClinGen gnomAD
rs139738025 CA7920122	373	V>I		No	ClinGen ExAC TOPMed
TCGA novel	380	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920119 rs182392249	383	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	384	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272356380 CA394837613	385	H>R		No	TOPMed ClinGen
CA7920118 rs756715580	387	E>A		No	ClinGen ExAC gnomAD
rs1482710227 CA394837576	390	F>C		No	ClinGen TOPMed
rs1272090476 CA394837510	399	E>A		No	gnomAD ClinGen
rs1247688474 CA394837499	400	N>K		No	TOPMed gnomAD ClinGen
CA7920116 rs763751871	401	K>R		No	ClinGen ExAC gnomAD
TCGA novel	402	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	406	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272545886 CA394837422	410	C>Y		No	gnomAD ClinGen
rs759338114 CA7920090	412	V>I		No	ExAC gnomAD ClinGen
rs751579883 CA7920089	413	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA278575008 rs949052348	414	V>I		No	ClinGen TOPMed
CA394836710 rs1245842825	415	A>V		No	ClinGen gnomAD
rs768618441 CA7920085	417	I>V		No	ClinGen ExAC gnomAD
CA7920083 rs200481256	418	N>D		No	ESP ExAC TOPMed gnomAD ClinGen
rs374518764 CA7920082	418	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398029762 CA394836644	419	A>T		No	TOPMed ClinGen
rs746179575 CA7920081	420	T>I		No	ExAC gnomAD ClinGen
CA394836614 rs1407793124	421	A>T		No	TOPMed ClinGen
rs1224570357 CA394836596	422	K>E		No	ClinGen gnomAD
CA394836570 rs1372170589	423	N>Y		No	TOPMed ClinGen
rs771507424 CA7920079	425	A>T		No	ClinGen ExAC gnomAD
CA394836528 rs1433184451	425	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA7920078 rs749753970	427	D>V		No	ClinGen ExAC gnomAD
rs1308877292 CA394836491	428	K>Q		No	gnomAD ClinGen
CA278574906 rs889380166	430	R>L		No	gnomAD ClinGen
TCGA novel	430	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755521344 CA7920076	430	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs946889604 CA278574884	432	S>G		No	ClinGen Ensembl
TCGA novel	432	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920074 rs780953675	434	R>C		No	ExAC TOPMed gnomAD ClinGen
rs754843858 COSM1211914 CA7920073	434	R>H	large_intestine [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs1337607094 CA394836305	438	N>D		No	TOPMed ClinGen
rs766059613 CA7920071	441	T>P		No	ExAC ClinGen
rs963490110 CA278574843	445	T>A		No	ClinGen TOPMed gnomAD
rs963490110 CA394836172	445	T>S		No	TOPMed gnomAD ClinGen
TCGA novel	446	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920069 rs199770629	451	T>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA278611095 rs918395377	451	T>S		No	ClinGen TOPMed
CA7920046 rs757161148	454	N>S		No	ExAC gnomAD ClinGen
TCGA novel	463	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567580191 CA394865879	465	R>S		No	ClinGen Ensembl
CA7920043 rs759811492	469	H>Q		No	ClinGen ExAC gnomAD
rs1395456693 CA394865815	469	H>R		No	ClinGen gnomAD
CA7920042 rs766771705	470	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7920039 rs773793302	480	E>A		No	ClinGen ExAC
rs1025170115 CA278611052	485	H>R		No	Ensembl ClinGen
rs762380585 CA7920037	487	N>I		No	ClinGen ExAC gnomAD
rs768274104 CA7920035	488	E>K		No	ClinGen ExAC gnomAD
CA394865380 rs1163684069	489	L>P		No	ClinGen gnomAD
CA394865363 rs1596493354	491	R>T		No	Ensembl ClinGen
COSM1211919 CA394865293 rs1179433742	495	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7920033 rs779528846	495	F>V		No	ClinGen ExAC gnomAD
CA394865285 rs1481194795	496	I>V		No	gnomAD ClinGen
TCGA novel	497	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7920032 rs765688253	498	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778749693 CA7920030	502	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1490902246	502	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7920029 rs757244952	502	R>S		No	ExAC gnomAD ClinGen
TCGA novel	504	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753772105 CA7920028	505	L>V		No	ClinGen ExAC gnomAD
TCGA novel	507	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470435287 CA394865089	508	P>A		No	ClinGen gnomAD
rs752576220 CA7920008	509	Q>R		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	510	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394864535 rs1238621684	511	H>R		No	ClinGen Ensembl
TCGA novel	516	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767609092 CA278607146	521	A>G		No	ClinGen Ensembl
rs372376810 CA7920004	528	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA278607141 rs368097903	529	S>G		No	ClinGen ESP TOPMed gnomAD
TCGA novel	529	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1211916 rs774267465 CA278607112	534	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs757633783 CA7920002	537	D>G		No	ExAC gnomAD ClinGen
rs1159762395 CA394864347	539	C>Y		No	TOPMed ClinGen
TCGA novel	541	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308423541 CA394864315	544	L>Q		No	TOPMed gnomAD ClinGen
rs1225982380 CA394864309	545	S>N		No	TOPMed gnomAD ClinGen
rs199912490 CA7919999	552	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA394864249 rs1256395683 COSM1255568	554	R>C	oesophagus [Cosmic]	No	gnomAD ClinGen cosmic curated
rs1415856489 CA394864248	554	R>H		No	TOPMed ClinGen
rs531691697 CA278607091	556	I>V		No	ClinGen 1000Genomes
CA7919997 rs370448161	559	D>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA7919998 rs761226297	559	D>Y		No	ClinGen ExAC gnomAD
CA7919995 rs759117470	562	E>K		No	ClinGen ExAC gnomAD
CA394864185 rs1363791275	563	R>H		No	ClinGen gnomAD
rs749041414 CA7919992	567	R>L		No	ClinGen ExAC
CA394864126 rs1403486645	569	E>D		No	gnomAD ClinGen
rs769667593 CA7919990	572	D>N		No	ExAC gnomAD ClinGen
rs1050370945 CA278607021	574	F>C		No	TOPMed ClinGen
rs1169430770 CA394864022	577	R>M		No	gnomAD ClinGen
TCGA novel	579	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7919989 rs748100673	579	I>T		No	ExAC gnomAD ClinGen
rs1567572083 CA394864000	579	I>V		No	ClinGen Ensembl
CA7919988 rs780062846	582	F>L		No	ExAC gnomAD ClinGen
CA394863967 rs780062846	582	F>V		No	ClinGen ExAC gnomAD
CA394863944 rs1238408094	584	P>S		No	ClinGen TOPMed
rs779224434 CA7919985	588	E>A		No	ExAC TOPMed gnomAD ClinGen
CA7919984 rs757525554	589	L>F		No	ExAC gnomAD ClinGen
CA7919983 rs754307910	590	C>S		No	ClinGen ExAC gnomAD
rs764544223 CA7919982	591	E>G		No	ClinGen ExAC
CA7919981 rs756649354	592	T>A		No	ClinGen ExAC gnomAD
CA7919979 rs376411949	593	K>N		No	ClinGen ESP ExAC
CA7919980 rs773695316	593	K>R		No	ExAC gnomAD ClinGen
TCGA novel	594	S>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394863796 rs1485183835	596	N>S		No	ClinGen TOPMed
rs774022671 CA7919977	598	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1394692682 CA394863749	599	A>G		No	ClinGen TOPMed gnomAD
CA7919976 rs766058694	599	A>T		No	ClinGen ExAC gnomAD
CA394863738 rs1399051583	600	D>G		No	ClinGen gnomAD
CA394863717 rs1388476446	601	K>N		No	TOPMed gnomAD ClinGen
rs1429380085 CA394863726	601	K>Q		No	gnomAD ClinGen
rs1408634253 CA394863707	602	V>E		No	TOPMed gnomAD ClinGen
CA7919974 rs770219911	608	L>R		No	ClinGen ExAC TOPMed gnomAD
CA7919973 rs200589022	609	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370742658 CA7919971	610	N>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs1430740063 CA394863609	610	N>T		No	TOPMed ClinGen
rs1253737075 CA394863563	613	L>F		No	gnomAD ClinGen
CA278606878 rs377235313	614	C>Y		No	ClinGen ESP gnomAD
rs1310304000 CA394863543	615	L>F		No	ClinGen TOPMed
CA394863534 rs1272025019	616	I>V		No	gnomAD ClinGen
CA394863513 rs1159668924	618	D>E		No	ClinGen gnomAD
CA278606874 rs1023330947	618	D>N		No	ClinGen TOPMed
rs1247619735 CA394863494	621	E>G		No	gnomAD ClinGen
rs779117957 CA7919968	624	S>C		No	ExAC gnomAD ClinGen
rs1338007329 CA394863456	626	A>V		No	ClinGen TOPMed gnomAD
CA7919966 rs369224578	629	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA394863408 rs1369014288	630	P>L		No	ClinGen gnomAD
rs1302878167 CA394863418	630	P>S		No	TOPMed ClinGen
TCGA novel	638	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7919963 rs577755017	643	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	644	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	646	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	646	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	649	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479603035 CA394863167	649	S>T		No	TOPMed ClinGen
CA394863156 rs1195103108	650	L>S		No	ClinGen TOPMed
TCGA novel	651	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7919941 rs757843716	652	E>*		No	ExAC gnomAD ClinGen
rs764900888 CA7919940	652	E>A		No	ClinGen ExAC gnomAD
rs764900888 CA7919939	652	E>V		No	ExAC gnomAD ClinGen
rs761353716 CA7919938	653	L>V		No	ExAC TOPMed gnomAD ClinGen
CA394863056 rs1320478767	654	C>Y		No	TOPMed gnomAD ClinGen
CA7919937 rs753728685	655	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA278606390 rs753728685	655	R>G		No	ExAC TOPMed gnomAD ClinGen
rs1025707920 CA394863042 COSM275671	655	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA278606385 rs1025707920	655	R>L		No	TOPMed gnomAD ClinGen
rs760696104 CA7919935	656	M>L		No	ClinGen ExAC gnomAD
CA7919936 rs760696104	656	M>V		No	ClinGen ExAC gnomAD
CA7919934 rs775512040	657	E>K		No	ClinGen ExAC gnomAD
CA7919933 rs771158564	659	K>E		No	ExAC gnomAD ClinGen
rs1187804820 CA394862964	662	H>D		No	ClinGen TOPMed
rs770103093 CA7919930	664	N>K		No	ExAC gnomAD ClinGen
CA394862916 rs1567570747	665	S>T		No	Ensembl ClinGen
TCGA novel	666	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424118524 CA394862907	666	E>K		No	ClinGen gnomAD
CA7919929 rs748304063	667	H>Y		No	ClinGen ExAC gnomAD
CA278606343 rs972355937	669	Q>H		No	TOPMed ClinGen
CA394862864 rs1385254634	669	Q>K		No	gnomAD ClinGen
CA394862845 rs1248133861	670	G>D		No	gnomAD ClinGen
rs1596483375 CA394862818	672	L>Q		No	Ensembl ClinGen
rs1157090660 CA394862794	674	L>Q		No	ClinGen TOPMed
CA394862784 rs1239667231	675	V>A		No	ClinGen gnomAD
rs757005961 CA7919921	676	V>I		No	ClinGen ExAC gnomAD
rs757005961 CA7919922	676	V>L		No	ExAC gnomAD ClinGen
rs1466782982 CA394862765	677	P>A		No	TOPMed ClinGen
CA394862756 rs753368181	678	T>A		No	ExAC TOPMed gnomAD ClinGen
CA7919920 rs753368181	678	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1230914846 CA394862735	679	H>Q		No	ClinGen TOPMed gnomAD
CA7919919 rs187639009	680	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755926228 CA7919918	681	N>D		No	ClinGen ExAC gnomAD
CA278606266 rs1006340228	683	S>R		No	ClinGen TOPMed
CA394862682 rs1363009274	684	A>V		No	ClinGen gnomAD
CA394862679 rs1304505488	685	A>T		No	ClinGen TOPMed gnomAD
rs752715635 CA7919917	685	A>V		No	ExAC TOPMed gnomAD ClinGen
CA394862676 rs767603294	686	V>L		No	ClinGen ExAC gnomAD
CA7919916 rs767603294	686	V>M		No	ExAC gnomAD ClinGen
CA394862669 rs1162682375	687	S>A		No	ClinGen gnomAD
rs376199881 CA7919915	687	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs765226009 CA7919913	688	T>A		No	ClinGen ExAC TOPMed gnomAD
rs371559993 CA7919912	688	T>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA7919911 rs371559993	688	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs769028569 CA7919910	689	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7919907 rs531697692	690	K>T		No	1000Genomes ExAC gnomAD ClinGen
rs1236116531 CA394862641	692	S>A		No	ClinGen gnomAD
rs746361808 CA394862639	692	S>L		No	ClinGen ExAC gnomAD
CA7919906 rs746361808	692	S>W		No	ClinGen ExAC gnomAD
CA7919903 rs373840586	693	G>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs755797272 CA7919901	694	V>M		No	ClinGen ExAC gnomAD
CA278606173 rs935286526	695	A>P		No	TOPMed ClinGen
CA278606168 rs903767578	696	E>D		No	TOPMed gnomAD ClinGen
rs1261769910 CA394862607	698	V>A		No	gnomAD ClinGen
rs563899706 COSM240350 CA7919899	698	V>I	prostate [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
CA394862604 rs371321758	699	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7919898 rs371321758	699	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA394862605 rs371321758	699	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA394862586 rs1370849232	701	T>S		No	ClinGen gnomAD
rs1052451402 CA278606126	702	S>G		No	ClinGen gnomAD
rs116690167 CA7919897	702	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116690167 CA7919896	702	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1427317678 CA394862573	703	Q>H		No	ClinGen gnomAD
CA394862531 rs1567569941	707	N>S		No	ClinGen Ensembl
CA394862526 rs747797091	708	L>F		No	ExAC gnomAD ClinGen
rs747797091 CA7919882	708	L>V		No	ClinGen ExAC gnomAD
CA394862505 rs1435135727	711	R>Q		No	ClinGen TOPMed gnomAD
rs376686212 CA7919880	712	S>N		No	ESP ExAC gnomAD ClinGen
rs1251107880 CA394862483	715	S>G		No	ClinGen gnomAD
rs779813560 CA7919877	717	P>H		No	ClinGen ExAC gnomAD
CA7919878 rs779813560	717	P>L		No	ExAC gnomAD ClinGen
CA394862470 rs1202978754	717	P>T		No	TOPMed ClinGen
CA278605928 rs918287015	719	E>A		No	ClinGen TOPMed gnomAD
rs753964600 CA7919874	719	E>K		No	ClinGen ExAC gnomAD
CA394862449 rs1313643313	720	K>N		No	ClinGen gnomAD
rs545358249 CA278605913	720	K>Q		No	ClinGen 1000Genomes
rs1567569787 CA394862410	725	E>V		No	Ensembl ClinGen
CA278605872 rs947863355	727	V>I		No	ClinGen gnomAD
CA394862387 rs1368118169	729	Q>E		No	gnomAD ClinGen
CA394862369 rs1227894509	731	S>N		No	gnomAD ClinGen
CA394862356 rs1436507616	733	P>S		No	ClinGen gnomAD
CA7919871 rs752860656	734	S>F		No	ExAC TOPMed gnomAD ClinGen
rs1297786300 CA394862345	735	A>S		No	ClinGen gnomAD
CA394862344 rs1385219966	735	A>V		No	gnomAD ClinGen
rs767949836 CA7919870	740	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1302399453 CA394862303	741	A>S		No	TOPMed gnomAD ClinGen
rs1405499728 CA394862293	743	R>G		No	ClinGen gnomAD
rs759781711 CA7919869	747	P>S		No	ExAC gnomAD ClinGen
rs370385036 CA394862247	750	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7919867 rs370385036	750	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1465301155 CA394862240	751	S>Y		No	gnomAD ClinGen
rs1368298496 CA394862219	754	W>S		No	TOPMed ClinGen
rs369782557 CA394861693	759	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7919838 rs369782557	759	M>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA7919839 rs769450987	759	M>V		No	ExAC TOPMed gnomAD ClinGen
rs776171403 CA7919837 COSM1608945	760	S>F	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768240403 CA7919836	761	P>L		No	ClinGen ExAC gnomAD
rs935809507 CA278604012	762	N>D		No	ClinGen Ensembl
TCGA novel	762	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747621460 CA278604009	763	L>F		No	ClinGen Ensembl
CA394861641 rs1048362021	767	A>G		No	TOPMed gnomAD ClinGen
rs1048362021 CA278604006	767	A>V		No	TOPMed gnomAD ClinGen
CA7919833 rs771844766	768	S>C		No	ClinGen ExAC gnomAD
CA7919832 rs573226242	769	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM701889 CA394861632 rs1368928774	769	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs975265255 CA278603985	770	L>R		No	ClinGen TOPMed
rs757156757 CA7919830	771	A>P		No	ExAC gnomAD ClinGen
CA278603980 rs977146230	772	F>I		No	Ensembl ClinGen
CA394861613 rs1482496982	772	F>L		No	gnomAD ClinGen
TCGA novel	772	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748276762 CA7919829	774	I>V		No	ExAC gnomAD ClinGen
rs375428441 CA7919828	775	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755224148 CA7919827	777	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7919824 rs766665063	780	E>K		No	ExAC TOPMed gnomAD ClinGen
rs539912172 CA278603961	781	A>T		No	1000Genomes TOPMed ClinGen
rs765882078 CA7919822	782	D>N		No	ExAC TOPMed gnomAD ClinGen
rs765882078 CA7919821	782	D>Y		No	ExAC TOPMed gnomAD ClinGen
CA394861542 rs1325627717	783	C>F		No	gnomAD ClinGen
rs762384214 CA7919820	783	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1224087448 CA394861528	785	D>V		No	TOPMed gnomAD ClinGen
CA7919818 rs369360983	786	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1164091744 CA394861510	788	A>S		No	ClinGen gnomAD
CA7919817 rs760260988	788	A>V		No	ExAC gnomAD ClinGen
CA394861490 rs1164581914	791	A>V		No	ClinGen TOPMed
rs958435518 CA278603892	792	D>N		No	TOPMed gnomAD ClinGen
rs958435518 CA394861486	792	D>Y		No	TOPMed gnomAD ClinGen
CA394861448 rs1305976354	797	N>S		No	ClinGen TOPMed gnomAD
rs1200456401 CA394861443	798	I>V		No	ClinGen TOPMed gnomAD
rs371434325 CA7919812	801	R>T		No	ClinGen ESP ExAC TOPMed
CA394861399 rs1252974400	804	R>Q		No	gnomAD ClinGen
rs1298125313 CA394861396	805	K>E		No	TOPMed ClinGen
rs755026877 CA7919809	807	L>V		No	ClinGen ExAC gnomAD
CA394861375 rs1348886328	808	Q>*		No	ClinGen TOPMed gnomAD
rs1348886328 CA394861376	808	Q>E		No	TOPMed gnomAD ClinGen
rs1437332249 CA394861364	809	Q>H		No	ClinGen gnomAD
rs780282309 CA7919808	809	Q>L		No	ExAC gnomAD ClinGen
rs780282309 CA7919807	809	Q>R		No	ClinGen ExAC gnomAD
rs758661444 CA7919806	810	L>V		No	ExAC TOPMed gnomAD ClinGen
CA7919802 rs754317048	813	E>D		No	ExAC TOPMed gnomAD ClinGen
CA7919803 rs757903373	813	E>K		No	ExAC gnomAD ClinGen
rs1321043786 CA394861338	814	A>T		No	gnomAD ClinGen
rs199631978 CA7919801	816	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567563867 CA394860923	825	E>K		No	Ensembl ClinGen
rs766181869 CA7919777	826	L>F		No	ExAC gnomAD ClinGen
CA7919775 rs772850962	828	P>S		No	ClinGen ExAC gnomAD
CA394860902 rs772850962	828	P>T		No	ExAC gnomAD ClinGen
CA7919773 rs761639801	829	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7919774 rs769818885	829	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1460270761 CA394860883	831	D>N		No	TOPMed ClinGen
rs987321399 CA278602677	833	Q>E		No	TOPMed ClinGen
rs1359694239 CA394860842	837	V>I		No	ClinGen gnomAD
rs1286455657 CA394860804	842	N>D		No	ClinGen gnomAD
CA7919772 rs775777514	844	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs746118685 CA394860763	847	I>M		No	ExAC TOPMed gnomAD ClinGen
CA7919769 rs546188112	848	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546188112 CA7919768	848	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs777988096 CA7919766	851	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394860731 rs1393959601	853	L>F		No	gnomAD ClinGen
CA278602642 rs988805033	854	H>Q		No	ClinGen TOPMed gnomAD
rs753138293 CA7919764	856	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1475066991 CA394860700	857	K>R		No	ClinGen gnomAD
CA7919763 rs780695528	864	L>V		No	ClinGen ExAC gnomAD
rs1032930333 CA278602631	865	V>A		No	ClinGen TOPMed gnomAD
CA7919762 rs35438466	865	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	866	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394860630 rs1202451709	868	A>T		No	ClinGen gnomAD
rs184906468 CA278602629	869	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs184906468 CA7919760	869	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs960337879 CA278602619	870	G>R		No	ClinGen TOPMed
TCGA novel	871	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394860611 rs1311625802	872	A>T		No	ClinGen Ensembl
rs867037688 CA278602601	872	A>V		No	ClinGen Ensembl
CA394860594 rs1333863474	874	K>R		No	ClinGen gnomAD
CA394860595 rs1333863474	874	K>T		No	gnomAD ClinGen
CA394860541 rs1363482533	881	A>T		No	gnomAD ClinGen
rs570948087 CA7919739	884	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7919738 rs756964493	885	S>C		No	ExAC gnomAD ClinGen
rs1370545343 CA394860492	888	Q>P		No	TOPMed ClinGen
CA394860483 rs1425859132	889	D>G		No	TOPMed ClinGen
CA7919737 rs753658527	893	C>G		No	ExAC gnomAD ClinGen
rs1304962973 CA394860458	893	C>Y		No	ClinGen TOPMed
rs1486057575 CA394860405	901	T>A		No	gnomAD ClinGen
rs369492166 CA394860388	903	I>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs369492166 CA7919735	903	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA394860383 rs1289718730	904	Y>C		No	TOPMed ClinGen
TCGA novel	905	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185814704 CA394860369	906	K>E		No	ClinGen gnomAD
rs1356417315 CA394859910	907	K>N		No	gnomAD ClinGen
CA394860362 rs1313516222	907	K>Q		No	ClinGen TOPMed gnomAD
rs1303520043	907	K>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA394859899 rs1279090125	909	G>R		No	ClinGen TOPMed
rs371772020 CA7919714	910	H>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA7919715 rs756951345	910	H>Y		No	ClinGen ExAC gnomAD
rs763980390 CA7919713	911	K>E		No	ExAC gnomAD ClinGen
CA278599549 rs912220835	913	N>I		No	TOPMed ClinGen
rs1476046309 CA394859848	916	D>E		No	ClinGen gnomAD
rs762903249 CA7919709	920	L>V		No	ClinGen ExAC gnomAD
CA7919708 rs376688374	922	D>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs368220990 COSM967367 CA7919706	923	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs761180838 CA7919703	925	A>T		No	ExAC gnomAD ClinGen
CA394859782 rs1371329527	927	R>C		No	ClinGen TOPMed
rs772423068 CA7919701	927	R>H		No	ClinGen ExAC gnomAD
CA7919700 rs745422647	929	Q>*		No	ClinGen ExAC gnomAD
CA394859750 rs373813322 CA7919698	932	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA7919696 rs551423314	933	R>Q		No	1000Genomes ExAC gnomAD ClinGen
rs748882930 CA7919697	933	R>W		No	ExAC gnomAD ClinGen
rs755926277 CA7919695	934	L>M		No	ExAC gnomAD ClinGen
CA394859736 rs1462906385	935	V>L		No	TOPMed gnomAD ClinGen
CA278599481 rs1002230150	937	L>F		No	ClinGen TOPMed
TCGA novel	937	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596470765 CA394859709	939	P>L		No	Ensembl ClinGen
CA394859712 rs1163858704	939	P>S		No	ClinGen gnomAD
rs1474031314 CA394859699	941	S>G		No	gnomAD ClinGen
CA7919694 rs752713004	944	R>C		No	ClinGen ExAC gnomAD
rs781029788 CA7919693	944	R>H		No	ExAC gnomAD ClinGen
CA394859670 rs1302096097	945	Q>R		No	ClinGen TOPMed
CA278599466 rs1046378627	946	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	948	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447858382 CA394859652	948	L>V		No	ClinGen gnomAD
TCGA novel	949	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7919691 rs750524877	952	Q>H		No	ExAC gnomAD ClinGen
rs370318220 CA7919689	955	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs753997957 CA7919688	956	G>R		No	ClinGen ExAC gnomAD
CA394859599 rs753997957	956	G>S		No	ExAC gnomAD ClinGen
rs760984911 CA7919686	957	S>F		No	ClinGen ExAC TOPMed gnomAD
rs764462037 CA7919687	957	S>P		No	ExAC gnomAD ClinGen
rs1325564810 CA394859591	958	S>P		No	ClinGen gnomAD
rs760087985 CA7919683	959	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1430489495 CA394859561	962	S>N		No	TOPMed ClinGen
CA7919681 rs770508355	963	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1032978379 CA278599432	964	I>V		No	Ensembl ClinGen
CA7919679 rs777529009	965	I>M		No	ExAC gnomAD ClinGen
CA7919680 rs748972606	965	I>T		No	ExAC TOPMed gnomAD ClinGen
rs202216269 CA7919678	968	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs747940163 CA7919677	972	H>Q		No	ExAC TOPMed gnomAD ClinGen
CA394859494 rs1194892094	972	H>Y		No	ClinGen gnomAD
CA7919676 rs781026303	973	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1396542408 CA394859479	974	P>S		No	TOPMed ClinGen
rs1438647495 CA394859463	976	C>Y		No	ClinGen TOPMed
rs373821774 CA7919675	977	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs754087805 CA7919671	980	C>R		No	ExAC gnomAD ClinGen
CA278599401 rs967242621	980	C>Y		No	ClinGen TOPMed
CA278599400 rs201259683	981	S>F		No	gnomAD ClinGen
rs764337579 CA7919670	982	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394859398 rs1293073448	983	K>E		No	ClinGen TOPMed
rs1596470486 CA394859387	984	D>H		No	ClinGen Ensembl
CA7919668 rs370819878	985	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA278599216 rs200564587	986	S>R		No	1000Genomes ExAC gnomAD ClinGen
rs1474139105 CA394859265	987	E>D		No	ClinGen TOPMed
CA7919643 rs202168747	987	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7919642 rs772921210	988	H>R		No	ClinGen ExAC gnomAD
CA394859260 rs1186978770	988	H>Y		No	TOPMed ClinGen
TCGA novel	989	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761380554 CA7919640	989	E>G		No	ClinGen ExAC gnomAD
CA7919639 rs545243412	990	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs768367070 CA7919638	994	S>A		No	ExAC TOPMed gnomAD ClinGen
rs768367070 CA394859157	994	S>P		No	ExAC TOPMed gnomAD ClinGen
CA394859141 rs1273591923	995	Y>C		No	gnomAD ClinGen
CA278599156 rs372484905	996	K>R		No	ClinGen Ensembl
CA278599153 rs966977131	997	I>F		No	ClinGen Ensembl
CA394859086 rs1156256209	997	I>M		No	TOPMed ClinGen
CA278599148 rs765271468	998	P>A		No	Ensembl ClinGen
TCGA novel	1000	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394859015 rs1213825665	1002	L>F		No	gnomAD ClinGen
TCGA novel	1008	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294856899 CA394858919	1008	A>V		No	ClinGen gnomAD
CA7919637 rs746845742	1010	Q>H		No	ClinGen ExAC gnomAD
rs1434918505 CA394858839	1013	S>R		No	ClinGen TOPMed
rs1567556011 CA394858782	1018	H>Y		No	Ensembl ClinGen
CA394858770 rs1443736747	1019	E>K		No	ClinGen gnomAD
CA7919634 rs745740520	1022	V>A		No	ClinGen ExAC TOPMed gnomAD
rs772066273 CA7919635	1022	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394858573 rs774309098	1027	F>L		No	ClinGen ExAC gnomAD
CA7919610 rs770746471	1028	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs768986269 CA7919607	1032	I>V		No	ExAC gnomAD ClinGen
CA394858488 rs1305740776	1034	E>K		No	TOPMed gnomAD ClinGen
rs368140283 CA7919605	1037	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA394858441 rs368140283	1037	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA278598353 rs942759036	1039	E>D		No	ClinGen TOPMed
rs905545076 CA278598351	1040	V>E		No	Ensembl ClinGen
CA278598352 rs911258332	1040	V>I		No	ClinGen TOPMed
CA394858408 COSM967362 rs1397729948	1041	V>A	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs750997575 CA7919603	1041	V>L		No	ClinGen ExAC gnomAD
CA394858381 rs1290930799	1044	N>D		No	gnomAD ClinGen
CA394858371 rs1454513995	1044	N>S		No	TOPMed gnomAD ClinGen
CA7919602 rs779514056	1045	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs1157099580 CA394858322	1046	G>R		No	gnomAD ClinGen
rs1436627655 CA394858271	1049	P>R		No	ClinGen gnomAD
CA7919601 rs757681283	1053	F>L		No	ClinGen ExAC gnomAD
rs753444352 CA7919600	1053	F>S		No	ExAC TOPMed gnomAD ClinGen
rs1440386382 CA394858099	1056	C>G		No	ClinGen gnomAD
CA7919599 rs760334937	1058	P>A		No	ClinGen ExAC TOPMed gnomAD
rs760334937 CA7919598	1058	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1486026528 CA394858040	1059	G>D		No	ClinGen TOPMed gnomAD
rs1486026528 CA394858035	1059	G>V		No	ClinGen TOPMed gnomAD
CA7919596 rs767335220	1062	I>T		No	ClinGen ExAC gnomAD
rs1171599019 CA394857937	1065	A>T		No	TOPMed ClinGen
rs1213883721 CA394857922	1066	Q>E		No	gnomAD ClinGen
rs1349447813 CA394857901	1067	N>H		No	ClinGen gnomAD
CA394857867 rs374692081	1068	G>A		No	ClinGen ESP gnomAD
CA278598312 rs374692081	1068	G>D		No	ESP gnomAD ClinGen
CA7919595 rs759370139	1070	K>I		No	ClinGen ExAC
CA7919594 rs773997581	1079	P>H		No	ClinGen ExAC gnomAD
rs1047256730 CA278598297	1079	P>T		No	ClinGen Ensembl
CA7919593 rs770961629	1080	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394857594 rs1383123653	1081	P>S		No	ClinGen gnomAD
CA7919590 rs768794841	1083	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1376178333 CA394857572	1084	T>I		No	gnomAD ClinGen
rs1292877642 CA394856826	1085	D>E		No	gnomAD ClinGen
rs780679112 CA394856824	1086	P>A		No	ClinGen ExAC gnomAD
rs780679112 CA7919561	1086	P>S		No	ClinGen ExAC gnomAD
CA7919559 rs754627751	1087	W>G		No	ExAC gnomAD ClinGen
rs1391905973 CA394856799	1090	R>C		No	ClinGen gnomAD
rs1399440902 CA394856797	1090	R>H		No	ClinGen TOPMed gnomAD
rs751111006 CA7919558	1091	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1162308924 CA394856768	1095	V>I		No	ClinGen gnomAD
rs1471583645 CA394856757	1096	G>V		No	gnomAD ClinGen
CA394856735 rs202179349	1099	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567548391 CA394856723	1101	I>M		No	Ensembl ClinGen
rs759827876 CA7919550	1108	I>T		No	ExAC gnomAD ClinGen
rs200559907 CA7919548	1112	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394856565 rs1238415442	1117	C>G		No	gnomAD ClinGen
rs573036201 CA7919546	1119	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1306959573 CA394856536	1119	I>M		No	gnomAD ClinGen
CA394856545 rs573036201	1119	I>V		No	ExAC TOPMed gnomAD ClinGen
rs1169279284 CA394856532	1120	P>A		No	ClinGen Ensembl
rs770355464 CA7919545	1120	P>H		No	ExAC TOPMed gnomAD ClinGen
rs770355464 CA394856528	1120	P>R		No	ClinGen ExAC TOPMed gnomAD
CA394856524 rs1567548265	1121	I>V		No	ClinGen Ensembl
CA7919544 rs748591361	1122	S>I		No	ExAC gnomAD ClinGen
CA7919543 rs780691341	1123	H>R		No	ExAC gnomAD ClinGen
TCGA novel	1125	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1131	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567548186 CA394856364	1133	A>T		No	ClinGen Ensembl
CA7919539 rs199967698	1137	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA394856312 rs1196085771	1137	R>Q		No	ClinGen gnomAD
CA394856307 rs1227896876	1138	V>M		No	ClinGen TOPMed
TCGA novel	1139	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778844405 CA7919537	1139	S>L		No	ClinGen ExAC gnomAD
rs753781188 CA7919535	1141	Y>C		No	ExAC ClinGen
TCGA novel	1143	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759575753 CA7919533	1144	S>F		No	ExAC gnomAD ClinGen
CA7919532 rs751637907	1146	L>V		No	ClinGen ExAC gnomAD
rs763235620 CA7919530	1147	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1348431748 CA394856178	1148	E>V		No	gnomAD ClinGen
CA394856159 rs1276163225	1149	L>F		No	TOPMed ClinGen
rs1201948116 CA394856173	1149	L>V		No	ClinGen TOPMed
rs200181892 CA7919528	1151	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA278592735 rs981857545	1151	E>Q		No	ClinGen TOPMed
CA278592731 rs865863976	1152	A>E		No	ClinGen Ensembl
CA7919527 rs770083686	1153	V>A		No	ClinGen ExAC TOPMed gnomAD
CA394856118 rs1408378936	1153	V>L		No	ClinGen gnomAD
rs908198316 CA278592725	1154	P>R		No	ClinGen TOPMed gnomAD
rs777078439 CA7919525	1157	L>S		No	ExAC gnomAD ClinGen
CA394855162 rs1004062584	1160	L>F		No	ClinGen TOPMed gnomAD
CA394855163 COSM967357 rs1004062584	1160	L>I	endometrium [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
rs1004062584 CA278592363	1160	L>V		No	ClinGen TOPMed gnomAD
CA7919498 rs777624317	1162	M>V		No	ExAC TOPMed gnomAD ClinGen
rs1048194768 CA278592357	1165	K>N		No	ClinGen TOPMed gnomAD
CA7919496 rs748063721	1165	K>R		No	ExAC gnomAD ClinGen
rs780016235 CA7919495	1166	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs750466646 CA7919493	1166	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7919494 rs750466646	1166	R>P		No	ExAC TOPMed gnomAD ClinGen
rs1331177272 CA394855044	1171	T>N		No	gnomAD ClinGen
CA394854978 rs1341451591	1176	V>M		No	TOPMed ClinGen
rs201258527 CA7919488	1178	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394854945 rs1423391841	1178	R>H		No	ClinGen gnomAD
TCGA novel	1183	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs79602356 CA278592320	1184	L>P		No	ClinGen Ensembl
CA394854778 rs1282968567	1191	A>T		No	TOPMed ClinGen
CA394854739 rs1179007995	1194	Q>E		No	ClinGen gnomAD
CA394854735 rs1354861547	1194	Q>R		No	ClinGen TOPMed
CA7919487 rs369672347	1196	I>T		No	ClinGen ESP ExAC gnomAD
CA7919485 rs759166999	1197	V>M		No	ExAC gnomAD ClinGen
rs776950079 CA278592293	1198	R>G		No	ClinGen Ensembl
rs899534612 CA278592290	1202	Q>K		No	TOPMed gnomAD ClinGen
rs1039380538 CA278592288	1202	Q>R		No	TOPMed ClinGen
CA394854657 rs1283209542	1205	H>N		No	TOPMed ClinGen
rs949493013 CA278591869	1208	F>S		No	ClinGen TOPMed
rs753172851 CA7919448	1209	S>L		No	ClinGen ExAC gnomAD
rs755558803 CA7919446	1215	T>S		No	ClinGen ExAC gnomAD
TCGA novel	1218	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278591837 rs917975658	1220	C>F		No	TOPMed gnomAD ClinGen
CA278591833 rs201567298	1223	I>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA7919445 rs201567298	1223	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs929937817 CA278591832	1226	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA278591826 rs1039756446	1228	E>G		No	ClinGen gnomAD
CA394853938 rs1322421248	1231	D>H		No	ClinGen TOPMed
CA394853902 rs1298133094	1232	T>A		No	gnomAD ClinGen
rs919856316 CA278591822	1233	T>A		No	TOPMed ClinGen
rs1340094906 CA394853858	1234	I>V		No	ClinGen gnomAD
CA7919440 rs761364050	1236	L>F		No	ExAC TOPMed gnomAD ClinGen
rs374372747 CA7919438	1240	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1303367624 CA394853602	1243	M>V		No	ClinGen gnomAD
rs963897461 CA278591808	1247	I>F		No	TOPMed ClinGen
rs1465421087 CA394853520	1248	P>S		No	TOPMed gnomAD ClinGen
rs760627331 CA7919437	1249	K>E		No	ClinGen ExAC gnomAD
CA7919436 rs550217983	1249	K>R		No	ClinGen ExAC gnomAD
rs374903730 CA7919414	1252	R>S		No	ESP ExAC gnomAD ClinGen
CA7919413 rs759326635	1254	Q>L		No	ClinGen ExAC gnomAD
CA394853005 rs1215818208	1260	T>I		No	ClinGen gnomAD
CA394852992 rs1357297140	1262	Q>R		No	ClinGen gnomAD
CA7919411 rs200431093	1267	V>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA394852950 rs1330350952	1268	V>A		No	ClinGen TOPMed
rs372638277 CA7919409	1268	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs768974632 CA7919408	1272	R>C		No	ExAC gnomAD ClinGen
rs753154970 CA7919404	1278	R>Q		No	ExAC gnomAD ClinGen
rs756682071 CA7919402	1280	P>A		No	ExAC gnomAD ClinGen
rs756682071 CA7919403	1280	P>S		No	ExAC gnomAD ClinGen
rs1439575697 CA394852739	1289	H>R		No	gnomAD ClinGen
rs1159787191 CA394852741	1289	H>Y		No	gnomAD ClinGen
CA278591249 rs1031573832	1294	R>Q		No	ClinGen TOPMed
rs868839290 CA278591251	1294	R>W		No	ClinGen Ensembl
CA394852632 rs1315606892	1297	K>R		No	ClinGen TOPMed
rs1424925127 CA394852613	1299	A>T		No	gnomAD ClinGen
rs1266929695 CA394852604	1299	A>V		No	ClinGen TOPMed gnomAD
CA394852584 rs1286779437	1301	Y>H		No	ClinGen gnomAD
TCGA novel	1303	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394852541 rs1208549308	1304	T>S		No	ClinGen TOPMed
CA394852534 rs1306859016	1304	T>S		No	gnomAD ClinGen
rs762036995 CA7919393	1307	L>F		No	ClinGen ExAC gnomAD
CA394852487 rs776834838 CA7919392	1308	E>D		No	ExAC gnomAD ClinGen
TCGA novel	1308	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7919391 rs769064594	1309	L>F		No	ClinGen ExAC gnomAD
rs904400546 CA278591242	1310	F>L		No	TOPMed ClinGen
CA7919390 CA7919389 rs775935973	1310	F>L		No	ClinGen ExAC gnomAD
rs201083244 CA7919388	1311	E>K		No	ClinGen ExAC gnomAD
CA7919386 rs779328051	1313	I>M		No	ClinGen ExAC gnomAD
rs1596454292 CA394852436	1313	I>V		No	Ensembl ClinGen
CA394852399 rs1195502958	1316	T>A		No	ClinGen TOPMed
rs375098758 CA7919385	1317	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA394852213 rs1277710436	1321	E>K		No	ClinGen gnomAD
CA394852116 COSM701891 rs1567541116	1326	K>N	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA7919356 rs185496208	1327	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779829419 CA7919355	1327	I>T		No	ClinGen ExAC gnomAD
rs1002899199 CA278590990	1329	T>S		No	ClinGen Ensembl
rs971290045 CA278590986	1331	T>A		No	Ensembl ClinGen
rs750335994 CA394852053	1332	E>G		No	ExAC TOPMed gnomAD ClinGen
CA7919354 rs144275524	1332	E>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7919353 rs750335994	1332	E>V		No	ClinGen ExAC TOPMed gnomAD
rs764299038 CA7919352	1335	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1340364063 CA394851968	1336	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1332683652 CA394851962	1337	K>E		No	ClinGen gnomAD
rs752798649 CA7919350	1341	A>T		No	ExAC gnomAD ClinGen
CA394851753 COSM1172300 rs1416076158	1348	R>W	oesophagus Variant assessed as Somatic; 4.638e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA394851703 rs1384604284	1351	K>*		No	TOPMed ClinGen
CA394851699 rs1181620633	1351	K>R		No	gnomAD ClinGen
CA7919346 rs774593463	1353	N>K		No	ExAC gnomAD ClinGen
rs1258425952 CA394851633	1355	L>F		No	gnomAD ClinGen
rs772192563 CA7919345	1356	M>I		No	ClinGen ExAC gnomAD
rs763485113 CA7919344	1360	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773751307 CA394851524	1362	T>I		No	ExAC TOPMed gnomAD ClinGen
CA7919343 rs773751307	1362	T>K		No	ExAC TOPMed gnomAD ClinGen
CA394851500 rs1228391066	1363	E>D		No	ClinGen TOPMed gnomAD
CA394851491 rs1392605716	1364	Y>H		No	gnomAD ClinGen
CA278590970 rs866963524	1365	A>S		No	ClinGen Ensembl
rs559427306 CA7919342	1369	G>D		No	1000Genomes ExAC gnomAD ClinGen
CA7919341 rs541302032	1371	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs940597356 CA278590964	1372	F>C		No	TOPMed ClinGen
CA278590962 rs887613818	1373	R>C		No	ClinGen Ensembl
rs768195354 CA7919339	1373	R>H		No	ExAC TOPMed gnomAD ClinGen
rs1165648304 CA394851249	1375	Q>R		No	gnomAD ClinGen
CA278590956 rs866508257	1376	D>G		No	Ensembl ClinGen
CA278590954 rs1040429181	1377	Y>F		No	ClinGen gnomAD
rs1378215728 CA394851175	1379	V>I		No	ClinGen TOPMed
CA7919334 rs779042389	1383	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs752724465 CA7919332	1384	A>S		No	ExAC gnomAD ClinGen
CA7919331 rs576794565	1384	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1386	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394851016 rs1234204331	1389	L>V		No	TOPMed ClinGen
COSM1478543 CA278590946 rs944419291	1391	H>R	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA7919328 rs766558550	1393	V>L		No	ClinGen ExAC gnomAD
CA7919329 rs766558550	1393	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1477866624 CA394850139	1396	A>T		No	TOPMed gnomAD ClinGen
rs749007150 CA7919277	1397	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs749007150 CA394850118	1397	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1177850497 CA394850100	1398	I>L		No	ClinGen gnomAD
CA7919275 rs374820287	1398	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7919273 rs780046934	1401	G>D		No	ClinGen ExAC gnomAD
rs1213186343 CA394850023	1402	R>K		No	ClinGen TOPMed
rs758628280 CA7919272	1402	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1219407964 CA394849994	1404	I>V		No	ClinGen gnomAD
CA394849960 rs1339976108	1405	Q>H		No	gnomAD ClinGen
CA394849967 rs1468002466	1405	Q>R		No	TOPMed gnomAD ClinGen
rs779173015 CA7919270	1408	N>H		No	ClinGen ExAC TOPMed gnomAD
rs757677863 CA7919269	1408	N>K		No	ExAC gnomAD ClinGen
CA394849915 rs1261291576	1408	N>T		No	ClinGen TOPMed
CA394849896 rs1303278737	1409	R>P		No	TOPMed gnomAD ClinGen
CA394849895 rs1303278737	1409	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA278589988 rs942446405	1412	L>V		No	ClinGen gnomAD
rs765681821 CA278589985	1413	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7919266 rs764719534	1415	L>V		No	ClinGen ExAC gnomAD
rs752268378 CA7919264	1418	Q>R		No	ClinGen ExAC gnomAD
CA394849718 rs1181731679	1421	V>I		No	ClinGen gnomAD
CA7919262 rs759294926	1422	L>S		No	ExAC gnomAD ClinGen
rs762867615 CA7919259	1425	S>T		No	ExAC gnomAD ClinGen
rs772881542 CA7919258	1426	W>S		No	ClinGen ExAC gnomAD
rs371389972 CA278589972	1427	E>K		No	ESP TOPMed ClinGen
rs748017051 CA7919256	1429	T>I		No	ExAC gnomAD ClinGen
rs1323488107 CA394849605	1429	T>P		No	gnomAD ClinGen
CA7919254 rs772096894	1435	E>D		No	ClinGen ExAC gnomAD
CA7919255 rs568500227	1435	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1333097744 CA394849502	1436	E>G		No	gnomAD ClinGen
CA7919253 rs745914446	1441	Y>H		No	ClinGen ExAC gnomAD
rs754294853 CA394849395	1442	E>A		No	ExAC TOPMed gnomAD ClinGen
rs754294853 CA7919250	1442	E>G		No	ClinGen ExAC TOPMed gnomAD
rs757406736 CA7919251	1442	E>K	Variant assessed as Somatic; 0.0002783 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1368474344 CA394849358	1444	T>I		No	ClinGen gnomAD
CA7919249 rs777933126	1445	H>N		No	ClinGen ExAC gnomAD
CA394849312 rs1443269513	1447	T>A		No	gnomAD ClinGen
rs756712115 CA7919248	1448	P>L		No	ClinGen ExAC gnomAD
CA394849293 rs1179616592	1449	L>V		No	ClinGen gnomAD
rs753216531 CA7919247	1450	N>K		No	ExAC gnomAD ClinGen
rs1211796618 CA394849267	1451	P>H		No	ClinGen gnomAD
rs1248667984 CA394849271	1451	P>S		No	gnomAD ClinGen
CA394849208 rs1397025718	1456	F>Y		No	TOPMed ClinGen
rs1315235175 CA394849189	1457	M>I		No	TOPMed ClinGen
CA278589957 rs369367491	1458	T>N		No	TOPMed ClinGen
CA278589956 rs369367491	1458	T>S		No	TOPMed ClinGen
CA394849161 rs1264892329	1460	T>S		No	ClinGen gnomAD
rs568115023 CA7919245	1461	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs568115023 CA7919244	1461	E>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7919243 rs766125540	1465	S>T		No	ExAC gnomAD ClinGen
rs1260413745 CA394849098	1467	P>S		No	TOPMed ClinGen
rs368216867 CA278589948	1468	Y>H		No	ESP TOPMed gnomAD ClinGen
rs769525367 CA7919240	1469	L>F		No	ClinGen ExAC gnomAD
CA278589428 rs1019209975	1476	D>N		No	TOPMed gnomAD ClinGen
CA7919131 rs772463158	1477	K>E		No	ExAC gnomAD ClinGen
rs1484460899 CA394848623	1478	M>I		No	gnomAD ClinGen
CA394848632 rs1596435943	1478	M>V		No	Ensembl ClinGen
CA278589426 rs755276496	1479	E>A		No	Ensembl ClinGen
rs1244080331 CA394848607	1480	E>K		No	ClinGen TOPMed gnomAD
rs1244080331 CA394848610	1480	E>Q		No	TOPMed gnomAD ClinGen
CA394848582 rs1203333375	1482	V>A		No	TOPMed gnomAD ClinGen
rs1228225760 CA394848549	1484	L>I		No	gnomAD ClinGen
CA7919126 rs202124293	1486	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1494	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7919122 rs754890207	1495	R>L		No	ExAC TOPMed gnomAD ClinGen
rs1170306213 CA394848365	1495	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1462055906 CA394848354	1496	S>Y		No	gnomAD ClinGen
rs751497713 CA7919121	1497	L>V		No	ExAC TOPMed gnomAD ClinGen
CA394848292 rs1168987574	1500	T>A		No	ClinGen gnomAD
CA394848290 rs1168987574	1500	T>S		No	ClinGen gnomAD
rs1020688400 CA278589418	1501	Y>*		No	ClinGen TOPMed
TCGA novel	1502	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394848192 rs1397638305	1504	Q>H		No	ClinGen TOPMed
CA394848187 rs1446553175	1505	Q>K		No	ClinGen TOPMed
CA7919120 rs766393005	1507	F>S		No	ExAC gnomAD ClinGen
CA394848124 rs1386294055	1508	L>F		No	ClinGen gnomAD
CA7919119 rs757465466	1509	H>N		No	ClinGen ExAC gnomAD
CA278589415 rs1028688453	1509	H>R		No	ClinGen Ensembl
CA7919118 rs753957830	1510	E>D		No	ClinGen ExAC gnomAD
rs1198656961 CA394848032	1512	S>C		No	gnomAD ClinGen
rs1010608506 CA278589412	1513	M>I		No	ClinGen TOPMed gnomAD
rs1187983649 CA394848016	1513	M>T		No	ClinGen Ensembl
CA7919117 rs764292085	1513	M>V		No	ClinGen ExAC gnomAD
rs760886285 CA7919116	1514	A>V		No	ClinGen ExAC gnomAD
rs760067172 CA7919113	1516	T>I		No	ClinGen ExAC TOPMed gnomAD
rs760067172 CA394847944	1516	T>N		No	ExAC TOPMed gnomAD ClinGen
CA394847951 rs1361463666	1516	T>P		No	ClinGen gnomAD
CA394847904 rs1244994934	1518	Y>C		No	ClinGen gnomAD
rs771414217 CA7919111	1520	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA278589408 rs373102838	1521	E>K		No	ESP ClinGen
rs748863199 CA7919110	1526	K>R		No	ExAC gnomAD ClinGen
CA7919109 rs772710610	1527	T>I		No	ClinGen ExAC gnomAD
rs1366721889 CA394847724	1529	G>S		No	gnomAD ClinGen
rs200467003 CA7919106	1533	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754856046 CA7919105	1534	E>G		No	ExAC gnomAD ClinGen
CA7919082 rs777746627	1544	V>L		No	ExAC gnomAD ClinGen
rs966427542 CA278589128	1549	H>R		No	gnomAD ClinGen
CA394846545 rs1315852625	1551	H>R		No	TOPMed ClinGen
CA394846395 rs1475027990	1559	N>S		No	ClinGen gnomAD
CA394846400 rs1168445058	1559	N>Y		No	gnomAD ClinGen
CA394846342 rs1388129129	1561	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA7919057 rs755211738	1563	S>I		No	ExAC gnomAD ClinGen
CA394846223 rs1398797621	1564	R>C		No	TOPMed gnomAD ClinGen
rs751737939 CA7919056	1564	R>H		No	ExAC gnomAD ClinGen
rs1225719869 CA394846190	1566	S>G		No	ClinGen gnomAD
CA7919054 rs559533355	1566	S>N		No	1000Genomes ExAC gnomAD ClinGen
CA7919052 rs767044564	1569	S>N		No	ExAC TOPMed gnomAD ClinGen
rs762163133 CA7919051	1569	S>R		No	ClinGen ExAC gnomAD
rs541183910 CA7919048	1572	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7919049 rs763650652	1572	P>S		No	ClinGen ExAC gnomAD
CA394846111 rs1162428523	1573	A>P		No	ClinGen TOPMed gnomAD
rs1162428523 CA394846112	1573	A>T		No	ClinGen TOPMed gnomAD
rs1402145430 CA394846101	1574	N>D		No	gnomAD ClinGen
rs775322052 CA394846096	1574	N>S		No	ExAC TOPMed gnomAD ClinGen
rs775322052 CA7919047	1574	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1402145430 CA394846099	1574	N>Y		No	gnomAD ClinGen
rs371133735 CA278589088	1575	H>Q		No	ClinGen ESP TOPMed gnomAD
CA7919045 rs759440829	1577	N>K		No	ExAC gnomAD ClinGen
CA7919046 rs771828788	1577	N>Y		No	ExAC gnomAD ClinGen
CA394846046 rs1200839248	1578	Q>H		No	ClinGen gnomAD
CA7919044 rs773950522	1580	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs781278625 CA7919041	1583	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773828747 CA278589081	1584	R>C		No	TOPMed gnomAD ClinGen
CA7919040 rs768760857	1584	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7919039 rs766087143	1585	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1432648385 CA394845939	1589	P>A		No	gnomAD ClinGen
rs1287153401 CA394845933	1589	P>R		No	ClinGen TOPMed gnomAD
CA394845937 rs1432648385	1589	P>S		No	gnomAD ClinGen
rs374362007 CA7919035	1590	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs370691682 CA7919033	1591	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1480427729 CA394845902	1592	H>R		No	gnomAD ClinGen
rs755735610 CA7919031	1595	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7919027 rs774217553	1600	G>A		No	ClinGen ExAC TOPMed gnomAD
rs762775448 CA7919025	1602	D>G		No	ExAC gnomAD ClinGen
rs373055067 CA7919024	1603	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373055067 CA394845783	1603	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA7919023 rs769702054	1604	S>I		No	ClinGen ExAC gnomAD
CA394845592 rs1160016296	1605	G>E		No	ClinGen gnomAD
CA7918977 rs750235252	1606	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764967122 CA7918976	1607	S>R		No	ExAC TOPMed gnomAD ClinGen
rs761773835 CA7918975	1610	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1302172594 CA394845539	1613	L>V		No	ClinGen TOPMed
rs753760282 CA7918973	1615	R>C		No	ExAC TOPMed gnomAD ClinGen
CA7918972 rs201631270	1615	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA394845510 rs1303955215	1618	D>G		No	TOPMed ClinGen
rs771291028 CA7918969	1618	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1196460361 CA394845504	1619	D>A		No	ClinGen gnomAD
rs374000108 CA278587176	1619	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1196460361 CA394845502	1619	D>V		No	gnomAD ClinGen
CA7918966 rs142983571	1620	S>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7918968 rs763216773	1620	S>T		No	ExAC ClinGen
rs199753421 CA394845495	1621	P>A		No	1000Genomes gnomAD ClinGen
rs1323407989 CA394845491	1621	P>L		No	ClinGen gnomAD
CA278587159 rs199753421	1621	P>S		No	ClinGen 1000Genomes gnomAD
COSM434685 rs200947981 CA7918964	1622	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7918961 rs746502942	1627	A>S		No	ExAC gnomAD ClinGen
CA7918960 rs779561302	1627	A>V		No	ClinGen ExAC gnomAD
rs1489563225 CA394845447	1629	V>L		No	TOPMed gnomAD ClinGen
CA278587144 rs761713203	1631	S>L		No	TOPMed gnomAD ClinGen
rs778509621 CA7918957	1632	C>F		No	ExAC gnomAD ClinGen
CA7918955 rs753654896	1635	S>F		No	ExAC ClinGen
rs1209013447 CA394845398	1637	Q>R		No	gnomAD ClinGen
CA278587138 rs986361943	1642	P>A		No	TOPMed gnomAD ClinGen
rs986361943 CA394845367	1642	P>T		No	ClinGen TOPMed gnomAD
COSM967351 rs946990272 CA278587130	1643	V>I	Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs766525031 CA7918951	1644	I>V		No	ClinGen ExAC gnomAD
CA394845342 rs1369398313	1646	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1294898797 CA394845331	1648	A>P		No	ClinGen TOPMed
rs773614564 CA7918949	1648	A>V		No	ClinGen ExAC gnomAD
CA7918948 rs770123921	1650	L>F		No	ExAC gnomAD ClinGen
rs988332659 CA278587118	1652	Q>K		No	Ensembl ClinGen
rs762148874 CA7918947	1652	Q>L		No	ClinGen ExAC gnomAD
rs776983879 CA7918946	1656	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1035129157 COSM3706866 CA278587114	1656	R>H	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1567523201 CA394845271	1657	P>S		No	Ensembl ClinGen
rs941412350 CA278587111	1659	E>K		No	ClinGen TOPMed
rs1274093482 CA394845247	1660	P>L		No	ClinGen TOPMed
CA394845242 rs1360233509	1661	S>C		No	ClinGen TOPMed
CA394845239 rs1171978693	1662	E>K		No	gnomAD ClinGen
CA394845220 rs1430634637	1663	I>L		No	ClinGen TOPMed
CA7918924 rs377175588	1664	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs776029755 CA7918923	1669	E>K		No	ClinGen ExAC TOPMed gnomAD
CA394845102 rs1567519805	1672	M>K		No	Ensembl ClinGen
CA394845106 rs772555771	1672	M>L		No	ClinGen ExAC gnomAD
CA7918922 rs772555771	1672	M>V		No	ExAC gnomAD ClinGen
TCGA novel	1672	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596415403 CA394845090	1673	E>A		No	Ensembl ClinGen
CA394845095 rs1229174781	1673	E>K		No	gnomAD ClinGen
rs1355898257 COSM1211917 CA394845072	1674	I>S	large_intestine [Cosmic]	No	gnomAD ClinGen cosmic curated
TCGA novel	1675	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7918920 rs200132242	1676	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA394845015 rs1336380195 COSM1608935	1679	K>N	liver [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
rs1409109691 CA394844990	1681	K>R		No	TOPMed gnomAD ClinGen
CA7918917 rs568257763	1684	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs374368393 CA7918914	1688	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA394844888 rs754894481	1689	S>L		No	ExAC TOPMed gnomAD ClinGen
CA7918913 rs754894481	1689	S>W		No	ExAC TOPMed gnomAD ClinGen
rs202093713 CA7918911	1690	S>P		No	ExAC TOPMed gnomAD ClinGen
rs200272215 CA7918910	1691	C>G		No	1000Genomes ExAC gnomAD ClinGen
rs754133461 CA7918909	1693	S>T		No	ExAC gnomAD ClinGen
rs369792440 CA278580056	1695	A>G		No	ESP TOPMed gnomAD ClinGen
CA394844824 rs1468742942	1696	V>D		No	Ensembl ClinGen
CA394844816 rs1191905235	1697	P>H		No	ClinGen TOPMed
CA394844813 rs1191905235	1697	P>L		No	ClinGen TOPMed
rs775827576 CA7918906	1698	V>M		No	ExAC TOPMed gnomAD ClinGen
CA394844796 rs1287770858	1699	P>L		No	gnomAD ClinGen
rs768018285 COSM1189189 CA7918905	1700	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7918904 rs759979347	1702	P>L		No	ExAC TOPMed gnomAD ClinGen
CA394844766 rs1295159215	1702	P>S		No	TOPMed gnomAD ClinGen
CA7918903 rs773880140	1703	S>P		No	ClinGen ExAC gnomAD
CA7918902 rs375670166	1704	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA7918900 rs201906029	1705	E>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA7918899 rs769323657	1706	T>A		No	ExAC TOPMed gnomAD ClinGen
rs1432095404 CA394844705	1707	S>P		No	ClinGen gnomAD
CA7918896 rs1227751836	1708	E>K		No	TOPMed ClinGen
CA394844690 rs1227751836	1708	E>Q		No	ClinGen TOPMed
CA394844667 rs1245319526	1709	S>L		No	gnomAD ClinGen
rs781074190 CA7918895	1709	S>P		No	ExAC gnomAD ClinGen
rs376068917 CA7918893	1710	L>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA7918892 rs376068917	1710	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766319354 CA278579980	1710	L>V		No	ClinGen Ensembl
rs757411400 CA7918891	1712	S>G		No	ClinGen ExAC TOPMed gnomAD
rs757411400 CA278579972	1712	S>R		No	ClinGen ExAC TOPMed gnomAD
rs753852883 CA7918890	1713	K>R		No	ExAC gnomAD ClinGen
rs1272855931 CA394844579	1716	V>A		No	ClinGen gnomAD
CA7918888 rs570650827	1716	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA394844553 rs1436908638	1718	S>N		No	gnomAD ClinGen
CA394844542 rs1319395489	1719	P>L		No	ClinGen TOPMed gnomAD
CA394844544 rs1212338255	1719	P>S		No	ClinGen TOPMed
CA7918885 rs759860751	1721	K>R		No	ExAC gnomAD ClinGen
CA7918884 rs752108212	1722	K>E		No	ExAC gnomAD ClinGen
TCGA novel	1722	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1722	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195602052 CA394844493	1723	Q>*		No	TOPMed ClinGen
rs773460942 CA278579944	1724	P>S		No	TOPMed ClinGen
CA394844459 rs1475200479	1726	N>I		No	TOPMed ClinGen
rs1450417759 CA394844405	1734	F>V		No	gnomAD ClinGen
CA7918881 rs772525829	1735	S>A		No	ExAC gnomAD ClinGen
CA7918880 rs769978963	1735	S>F		No	ExAC TOPMed gnomAD ClinGen
CA7918879 rs761505697	1736	L>F		No	ExAC gnomAD ClinGen
CA394844386 rs1256632162	1737	A>E		No	ClinGen TOPMed gnomAD
rs1256632162 CA394844384	1737	A>V		No	TOPMed gnomAD ClinGen
rs372098976 CA7918878	1738	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA394844372 rs1311518371	1739	I>M		No	TOPMed gnomAD ClinGen
CA394844355 rs1276344606	1742	L>F		No	ClinGen gnomAD

No associated diseases with Q9Y4F3

13 regional properties for Q9Y4F3

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	513 - 581	IPR000504-1
domain	RNA recognition motif domain	791 - 870	IPR000504-2
domain	NYN domain	353 - 490	IPR021139
domain	OST-HTH/LOTUS domain	1003 - 1079	IPR025605-1
domain	OST-HTH/LOTUS domain	1099 - 1173	IPR025605-2
domain	OST-HTH/LOTUS domain	1175 - 1250	IPR025605-3
domain	OST-HTH/LOTUS domain	1259 - 1334	IPR025605-4
domain	OST-HTH/LOTUS domain	1335 - 1410	IPR025605-5
domain	OST-HTH/LOTUS domain	1410 - 1485	IPR025605-6
domain	OST-HTH/LOTUS domain	1486 - 1560	IPR025605-7
domain	MARF1, RNA recognition motif 1	510 - 588	IPR034189
domain	MARF1, RNA recognition motif 2	787 - 875	IPR034191
domain	MARF1, first and second LOTUS domain	878 - 1088	IPR045602

Functions

		Description
EC Number
Subcellular Localization	Peroxisome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

3 GO annotations of molecular function

Name	Definition
CCR4-NOT complex binding	Binding to a CCR4-NOT complex.
mRNA base-pairing post-transcriptional repressor activity	A translation repressor activity that acts by base-pairing with an mRNA. The binding can result in targeting the mRNA for degradation or interfering with mRNA translation, hence resulting in posttranscriptional gene silencing.
ribonuclease activity	Catalysis of the hydrolysis of phosphodiester bonds in chains of RNA.

5 GO annotations of biological process

Name	Definition
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
female meiotic nuclear division	A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the female germline.
oogenesis	The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster.
post-transcriptional gene silencing	The inactivation of gene expression that occurs after thanscription.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MMEGNGTENS	CSRTRGWLQQ	DNDAKPWLWK	FSNCFSRPEQ	TLPHSPQTKE	YMENKKVAVE
70	80	90	100	110	120
LKDVPSPLHA	GSKLFPAVPL	PDIRSLQQPK	IQLSSVPKVS	CCAHCPNEPS	TSPMRFGGGG
130	140	150	160	170	180
GGSGGTSSLI	HPGALLDSQS	TRTITCQVGS	GFAFQSASSL	QNASARNNLA	GIASDFPSMC
190	200	210	220	230	240
LESNLSSCKH	LPCCGKLHFQ	SCHGNVHKLH	QFPSLQGCTS	AGYFPCSDFT	SGAPGHLEEH
250	260	270	280	290	300
ISQSELTPHL	CTNSLHLNVV	PPVCLKGSLY	CEDCLNKPAR	NSIIDAAKVW	PNIPPPNTQP
310	320	330	340	350	360
APLAVPLCNG	CGTKGTGKET	TLLLATSLGK	AASKFGSPEV	AVAGQVLENL	PPIGVFWDIE
370	380	390	400	410	420
NCSVPSGRSA	TAVVQRIREK	FFKGHREAEF	ICVCDISKEN	KEVIQELNNC	QVTVAHINAT
430	440	450	460	470	480
AKNAADDKLR	QSLRRFANTH	TAPATVVLVS	TDVNFALELS	DLRHRHGFHI	ILVHKNQASE
490	500	510	520	530	540
ALLHHANELI	RFEEFISDLP	PRLPLKMPQC	HTLLYVYNLP	ANKDGKSVSN	RLRRLSDNCG
550	560	570	580	590	600
GKVLSITGCS	AILRFINQDS	AERAQKRMEN	EDVFGNRIIV	SFTPKNRELC	ETKSSNAIAD
610	620	630	640	650	660
KVKSPKKLKN	PKLCLIKDAS	EQSSSAKATP	GKGSQANSGS	ATKNTNVKSL	QELCRMESKT
670	680	690	700	710	720
GHRNSEHQQG	HLRLVVPTHG	NSSAAVSTPK	NSGVAEPVYK	TSQKKENLSA	RSVTSSPVEK
730	740	750	760	770	780
KDKEETVFQV	SYPSAFSKLV	ASRQVSPLLA	SQSWSSRSMS	PNLLNRASPL	AFNIANSSSE
790	800	810	820	830	840
ADCPDPFANG	ADVQVSNIDY	RLSRKELQQL	LQEAFARHGK	VKSVELSPHT	DYQLKAVVQM
850	860	870	880	890	900
ENLQDAIGAV	NSLHRYKIGS	KKILVSLATG	AASKSLSLLS	AETMSVLQDA	PACCLPLFKF
910	920	930	940	950	960
TDIYEKKFGH	KLNVSDLYKL	TDTVAIREQG	NGRLVCLLPS	SQARQSPLGS	SQSHDGSSTN
970	980	990	1000	1010	1020
CSPIIFEELE	YHEPVCRQHC	SNKDFSEHEF	DPDSYKIPFV	ILSLKTFAPQ	VHSLLQTHEG
1030	1040	1050	1060	1070	1080
TVPLLSFPDC	YIAEFGDLEV	VQENQGGVPL	EHFITCVPGV	NIATAQNGIK	VVKWIHNKPP
1090	1100	1110	1120	1130	1140
PPNTDPWLLR	SKSPVGNPQL	IQFSREVIDL	LKSQPSCVIP	ISHFIPSYHH	HFAKQCRVSD
1150	1160	1170	1180	1190	1200
YGYSKLIELL	EAVPHVLQIL	GMGSKRLLTL	THRAQVKRFT	QDLLKLLKSQ	ASKQVIVREF
1210	1220	1230	1240	1250	1260
SQAYHWCFSK	DWDVTEYGVC	ELIDIVSEIP	DTTICLSQQD	NEMVICIPKR	ERTQDEIERT
1270	1280	1290	1300	1310	1320
KQFSKDVVDL	LRHQPHFRMP	FNKFIPSYHH	HFGRQCKLAY	YGFTKLLELF	EAIPDTLQVL
1330	1340	1350	1360	1370	1380
ECGEEKILTL	TEVERFKALA	AQFVKLLRSQ	KDNCLMMTDL	LTEYAKTFGY	TFRLQDYDVS
1390	1400	1410	1420	1430	1440
SISALTQKLC	HVVKVADIES	GRQIQLINRK	SLRSLTAQLL	VLLMSWEGTT	HLSVEELKRH
1450	1460	1470	1480	1490	1500
YESTHNTPLN	PCEYGFMTLT	ELLKSLPYLV	EVFTNDKMEE	CVKLTSLYLF	AKNVRSLLHT
1510	1520	1530	1540	1550	1560
YHYQQIFLHE	FSMAYTKYVG	ETLQPKTYGH	SSVEELLGAI	PQVVWIKGHG	HKRIVVLKND
1570	1580	1590	1600	1610	1620
MKSRLSSLSL	SPANHENQPS	EGERILEVPE	SHTASELKLG	ADGSGPSHTE	QELLRLTDDS
1630	1640	1650	1660	1670	1680
PVDLLCAPVP	SCLPSPQLRP	DPVILQSADL	IQFEERPQEP	SEIMILNQEE	KMEIPIPGKS
1690	1700	1710	1720	1730	1740
KTLTSDSSSS	CISAAVPVPP	CPSSETSESL	LSKDPVESPA	KKQPKNRVKL	AANFSLAPIT

KL