AiPD: Autoinhibited Protein Database

P26640

Gene name	VARS1
Protein name	Valine--tRNA ligase
Names	Protein G7a, Valyl-tRNA synthetase, ValRS
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7407
EC number	6.1.1.9: Ligases forming aminoacyl-tRNA and related compounds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

189-326 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

189-326 (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 P26640

Entry ID	Method	Resolution	Chain	Position	Source
AF-P26640-F1	Predicted				AlphaFoldDB

931 variants for P26640

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3723654 rs371420445 RCV001330220	7	S>F	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3723653 rs146870893 RCV001333518	11	D>A	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ESP ExAC gnomAD ClinGen ClinVar dbSNP
CA363484553 RCV000754483 rs1268435074	22	A>D	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs746631390 RCV001254052	61	E>*	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
rs757026184 RCV000681459	78	L>missing	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
CA3723523 rs759266212 RCV001330227	204	L>P	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs373471879 CA3723491 RCV001333522	241	R>W	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001095658 rs1813879239	338	M>I	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
CA363470480 RCV000681457 rs1562303844 RCV001266478	400	Q>P	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Inborn genetic diseases [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
CA3723378 RCV000681461 rs749228986 RCV000762392	404	R>W	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA363469343 RCV000681455 rs1562303235	434	L>V	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
CA3723343 rs763777257 RCV000678685	442	R>*	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
rs762729609 RCV000681458 RCV001266479 CA363469090	442	R>Q	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Inborn genetic diseases [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
RCV001333514 rs1163907651 CA363469056	444	C>Y	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	TOPMed gnomAD ClinGen ClinVar dbSNP
CA363468957 RCV001027988 rs1581645904	447	M>I	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
rs770013428 CA3723312 COSM1077697 RCV001333515	473	R>C	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ExAC gnomAD ClinGen cosmic curated ClinVar NCI-TCGA dbSNP
RCV001333516 rs1419910099 CA363463758	547	V>L	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001330218 rs754969412 CA3723202	583	M>L	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC gnomAD ClinVar dbSNP ClinGen
RCV001330219 rs780541929 CA3723157	625	P>L	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA363457923 RCV000625726 rs1401228799	661	P>T	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
RCV000678684 CA363456556 rs747824231	692	A>P	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001290969 rs754688832 CA3723094	696	G>R	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001330221 rs1394960891	744	P>T	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001330222 CA363452623 rs1294452351	758	R>C	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	TOPMed ClinGen ClinVar NCI-TCGA dbSNP
rs376864621 RCV000681456 CA3722956	822	G>S	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
CA16609513 RCV000516158 VAR_080602 RCV000454203 rs1060499734	885	L>F	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy NDMSCA; unknown pathological significance [ClinVar, UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
rs144311815 RCV001333517	912	A>E	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000681460 RCV001592858 CA363443159 rs1336685414	942	R>Q	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	TOPMed ClinGen ClinVar dbSNP
CA3722822 RCV000754485 rs150882285	947	R>H	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000454297 VAR_080603 RCV000516160 CA3722753 rs769369302	1058	R>Q	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Variant assessed as Somatic; 0.0 impact. NDMSCA; unknown pathological significance [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000721129 CA363435288 rs1562293093	1064	M>I	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV000754484 RCV002245581 rs1230283665 CA363434980 RCV003222096	1072	F>L	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Microcephaly [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
RCV001330223 rs1812998494	1085	S>G	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
rs373279419 RCV001254051	1115	T>R	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
CA3722698 RCV000754486 rs149378938	1119	R>C	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ESP ExAC gnomAD ClinGen ClinVar dbSNP
CA3722687 RCV001333519 rs150145769	1129	R>Q	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001095657 CA3722632 rs776596987	1208	R>*	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
rs766385187 RCV001330224 CA3722631	1208	R>Q	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1812931789 RCV001333520	1216	Q>*	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001330225 RCV003153995 CA3722620 rs368075745	1217	R>H	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001330226 rs752273148 CA3722617	1219	R>Q	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs757787598 RCV001333521 CA3722618	1219	R>W	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
rs1472868752 RCV001290967	1232	P>Q	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [ClinVar]	Yes	ClinVar dbSNP
CA3723655 rs145504112	2	S>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3723657 rs770966756	2	S>P		No	ClinGen ExAC TOPMed gnomAD
rs770966756 CA3723656	2	S>T		No	ExAC TOPMed gnomAD ClinGen
CA136884039 rs1037768081	7	S>T		No	TOPMed ClinGen
CA363484758 rs1161625846	8	P>L		No	gnomAD ClinGen
CA363484664 rs1367383060	14	P>S		No	gnomAD ClinGen
rs200831491 CA3723652 RCV000762393	16	L>R		No	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1192320909 CA363484631	17	R>*		No	gnomAD ClinGen
CA363484625 rs1046699195	17	R>P		No	gnomAD ClinGen
rs1046699195 CA136884037	17	R>Q		No	gnomAD ClinGen
TCGA novel	19	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363484577 rs1276820074	20	I>R		No	TOPMed ClinGen
CA363484554 rs1268435074	22	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA3723649 rs185990098	23	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3723648 rs780777850	25	G>A		No	ExAC TOPMed gnomAD ClinGen
rs755570137 CA3723647	26	E>D		No	ExAC gnomAD ClinGen
TCGA novel	27	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3723646 rs749886962	31	P>T		No	ExAC gnomAD ClinGen
CA3723644 rs756891676	32	G>*		No	ExAC TOPMed gnomAD ClinGen
rs756891676 CA363484411	32	G>R		No	ExAC TOPMed gnomAD ClinGen
CA363484396 rs1365942842	33	W>S		No	gnomAD ClinGen
rs1322808173 CA363484371	35	G>E		No	TOPMed gnomAD ClinGen
CA3723643 rs751190443	36	A>T		No	ExAC gnomAD ClinGen
CA363484337 rs1177315765	38	P>T		No	TOPMed gnomAD ClinGen
rs762774819 CA3723641	40	I>V		No	ExAC ClinGen
CA363484272 rs1416491797	43	Q>*		No	gnomAD ClinGen
CA363484243 rs1172492958	45	P>S		No	ClinGen gnomAD
rs1248033757 CA363484237	46	P>A		No	TOPMed gnomAD ClinGen
rs1413059229 CA363484233	46	P>L		No	TOPMed gnomAD ClinGen
CA136884030 COSM1621447 rs942480380	48	S>G	liver [Cosmic]	No	Ensembl ClinGen cosmic curated
rs765215584 CA3723639	48	S>R		No	ExAC TOPMed gnomAD ClinGen
rs759397976 CA3723638	49	R>K		No	ExAC gnomAD ClinGen
rs2607015	51	P>I		No	1000Genomes ExAC TOPMed gnomAD
CA363484180 rs2607015	51	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs67600122	51	P>P		No	Ensembl
VAR_052647 rs2607015 CA3723635	51	P>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs2753960	51	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs67600122 CA136884025	51	P>S		No	ClinGen Ensembl
rs2607015	51	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs2753960 VAR_061909 CA3723636	51	P>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1342996517 CA363484153	53	P>L		No	gnomAD ClinGen
rs774757337 CA3723633	54	P>L		No	ExAC TOPMed gnomAD ClinGen
rs749732992 CA3723631	55	P>H		No	ClinGen ExAC
rs1388908895 CA363484117	56	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA3723630 rs780575596	56	R>S		No	ExAC TOPMed gnomAD ClinGen
CA136884021 rs966493356	58	P>L		No	ClinGen TOPMed
CA3723628 rs746390677	59	A>S		No	ExAC TOPMed gnomAD ClinGen
rs746631390 CA3723625	61	E>K		No	ExAC gnomAD ClinGen
rs746631390 CA363484050	61	E>Q		No	ExAC gnomAD ClinGen
rs777468321 CA3723624	62	Q>E		No	ClinGen ExAC gnomAD
CA3723623 rs758174948	62	Q>R		No	ExAC gnomAD ClinGen
CA136884016 rs1025185109	63	G>W		No	TOPMed gnomAD ClinGen
CA363483999 rs1452580302	64	P>S		No	TOPMed ClinGen
CA363483954 rs1434508589	67	L>P		No	TOPMed ClinGen
rs754897269 CA3723620	68	W>R		No	ExAC TOPMed gnomAD ClinGen
rs1581665953 CA363483929	69	V>G		No	Ensembl ClinGen
rs753770365 CA3723619	70	W>*		No	ExAC gnomAD ClinGen
rs1440893501 CA363483885	73	T>P		No	ClinGen TOPMed
TCGA novel	74	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363483738 rs1230172966	82	A>E		No	gnomAD ClinGen
TCGA novel	84	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306578622 CA363483713	84	L>R		No	TOPMed ClinGen
rs1377474027 CA363483693	86	G>S		No	ClinGen gnomAD
CA363483657 rs1306702244	88	G>E		No	gnomAD ClinGen
TCGA novel	91	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3723609 rs144102783	92	A>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA3723608 rs144102783	92	A>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs749829576 CA136884004	92	A>P		No	ClinGen Ensembl
CA3723610 rs144102783	92	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA3723607 rs770468949	95	L>V		No	ClinGen ExAC gnomAD
CA363483474 rs777278429 CA3723605	99	W>C		No	ExAC TOPMed gnomAD ClinGen
rs1562317390 CA363483418	102	Y>*		No	Ensembl ClinGen
rs758007178 CA3723604	103	A>D		No	ExAC gnomAD ClinGen
CA3723603 rs747820660	105	T>M		No	ClinGen ExAC TOPMed gnomAD
CA363483356 rs747820660	105	T>R		No	ExAC TOPMed gnomAD ClinGen
rs1410780610 CA363483277	109	P>L		No	TOPMed ClinGen
rs940733337 CA136883999	111	A>T		No	TOPMed ClinGen
rs1581665597 CA363483231	112	C>G		No	Ensembl ClinGen
TCGA novel	114	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753813335 CA3723600	114	A>T		No	ExAC gnomAD ClinGen
CA363483165 rs1229457406	115	T>M		No	TOPMed gnomAD ClinGen
CA363483156 rs1229457406	115	T>R		No	TOPMed gnomAD ClinGen
CA3723599 rs766288334	116	L>P		No	ExAC gnomAD ClinGen
rs1287005769 CA363483118	117	P>L		No	gnomAD ClinGen
CA3723598 rs553301638	118	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs764296960 CA363483089	119	L>P		No	ExAC TOPMed gnomAD ClinGen
rs764296960 CA3723596	119	L>Q		No	ExAC TOPMed gnomAD ClinGen
CA3723595 rs535183490	121	L>P		No	1000Genomes ExAC gnomAD ClinGen
rs980564718 CA136883995	122	R>*		No	gnomAD ClinGen
rs138258006 CA3723593	124	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA3723594 rs775900453	124	S>P		No	ExAC gnomAD ClinGen
rs759882605 CA363482977	126	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA3723592 rs759882605	126	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1418380569 CA363482956	128	P>A		No	gnomAD ClinGen
rs777181955 CA3723590	129	Q>L		No	ExAC gnomAD ClinGen
TCGA novel	130	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363481848 rs1452663165	132	L>P		No	ClinGen gnomAD
TCGA novel	134	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs527579646 CA3723576	134	A>S		No	1000Genomes ExAC gnomAD ClinGen
CA3723574 rs765433748	137	R>G		No	ClinGen ExAC gnomAD
CA3723573 rs759816355	138	A>G		No	ExAC TOPMed gnomAD ClinGen
rs1259881363 CA363481769	138	A>S		No	ClinGen gnomAD
CA3723572 rs754084598	144	E>K		No	ExAC TOPMed ClinGen
CA3723571 rs766788452	147	R>Q		No	ExAC gnomAD ClinGen
rs761148517 CA3723570	148	L>R		No	ExAC gnomAD ClinGen
CA363481243 rs1302004923	153	A>S		No	gnomAD ClinGen
rs566508743 CA3723565 CA3723564	154	G>R		No	ClinGen 1000Genomes TOPMed
rs566508743 CA363481203	154	G>W		No	1000Genomes TOPMed ClinGen
rs773928411 CA3723563	155	E>K		No	ClinGen ExAC gnomAD
CA363481139 rs1432065402	156	A>G		No	gnomAD ClinGen
CA363481106 rs1381453174	157	P>S		No	gnomAD ClinGen
rs1198598399 CA363481062	161	D>A		No	TOPMed ClinGen
rs1198598399 CA363481063	161	D>V		No	TOPMed ClinGen
rs779660431 CA3723560	163	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1461761425 CA363480976	164	A>G		No	TOPMed ClinGen
rs1169347135 CA363480971	165	V>I		No	gnomAD ClinGen
rs943449778 CA136883826	166	T>I		No	ClinGen TOPMed gnomAD
rs1192676706 CA363480877	167	A>P		No	gnomAD ClinGen
CA363480872 rs1192676706	167	A>S		No	gnomAD ClinGen
rs1209383295 CA363480823	168	L>W		No	gnomAD ClinGen
CA136883825 rs1049580502	169	L>P		No	Ensembl ClinGen
TCGA novel	170	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363480720 rs1275936037	172	F>V		No	gnomAD ClinGen
rs1340784072 COSM1732599 CA363480684	173	R>*	NS [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
rs150140376 CA3723553	173	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs150140376 CA136883824	173	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs1581662045 CA363480662	174	Y>C		No	Ensembl ClinGen
rs762488039 CA3723543	177	D>H		No	ExAC TOPMed gnomAD ClinGen
CA136883820 rs925616547	178	P>A		No	TOPMed ClinGen
rs775244894 CA3723542	179	P>H		No	ExAC TOPMed gnomAD ClinGen
rs1186304779 CA363480437	179	P>S		No	gnomAD ClinGen
CA3723541 rs140959510	180	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3723539 VAR_052648 rs35196751 RCV000966192	181	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA3723540 rs35196751	181	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
RCV000879686 rs144131888 CA3723538	181	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3723536 rs375153363	182	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3723537 rs746997360	182	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1322356443 CA363480330	183	I>V		No	gnomAD ClinGen
CA3723534 rs749468063	184	W>C		No	ExAC gnomAD ClinGen
CA363480187 rs1231577769	186	N>S		No	ClinGen TOPMed gnomAD
rs200039031 CA3723533	189	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363480103 COSM1312017 rs1288920757	189	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1282355420 CA363480025	192	V>A		No	TOPMed ClinGen
CA3723531 rs750722856	193	T>M		No	ClinGen ExAC gnomAD
rs756344111 CA3723532	193	T>P		No	ExAC gnomAD ClinGen
CA3723527 rs763478263	196	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752152806 CA3723528	196	R>W		No	ExAC TOPMed gnomAD ClinGen
CA3723526 rs762589158	197	Q>H		No	ExAC gnomAD ClinGen
CA363479817 rs1413110731	198	P>A		No	gnomAD ClinGen
rs775266714 CA363479690	201	R>*		No	ExAC gnomAD ClinGen
rs775266714 CA3723525	201	R>G		No	ExAC gnomAD ClinGen
rs960502990 CA136883818	201	R>Q		No	ClinGen TOPMed gnomAD
rs1407880093 CA363479611	203	V>A		No	ClinGen TOPMed
rs764924414 CA3723524	203	V>M		No	ExAC TOPMed gnomAD ClinGen
rs1581661483 CA363479589	204	L>V		No	Ensembl ClinGen
CA363479565 rs1333934935	205	G>R		No	gnomAD ClinGen
rs1268475559	205	G>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3723522 rs776527262	208	V>F		No	ExAC gnomAD ClinGen
CA363479473 rs1348239104	209	L>P		No	TOPMed ClinGen
CA136883816 rs969295418	211	S>*		No	TOPMed gnomAD ClinGen
COSM3777502 CA363479423 rs969295418	211	S>L	urinary_tract [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
rs770808419 CA3723521	211	S>P		No	ExAC TOPMed gnomAD ClinGen
rs1367760727 CA363479380	213	A>T		No	TOPMed ClinGen
rs768606577 CA3723518	215	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3723519 rs768606577	215	P>S		No	ExAC TOPMed gnomAD ClinGen
CA363479287 rs768606577	215	P>T		No	ExAC TOPMed gnomAD ClinGen
CA363479270 rs1440382642	216	L>F		No	gnomAD ClinGen
TCGA novel	217	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780115933 CA3723516	218	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA136883814 rs900976537	219	Q>H		No	ClinGen Ensembl
CA136883815 rs997607002	219	Q>K		No	ClinGen TOPMed gnomAD
CA363479104 rs1407962941	220	P>L		No	ClinGen gnomAD
TCGA novel	221	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136883784 rs774943888	223	E>K		No	ClinGen Ensembl
TCGA novel	224	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363478862 rs1426980424	224	A>S		No	TOPMed ClinGen
CA136883783 rs557047558	225	P>A		No	gnomAD ClinGen
CA3723494 rs781457333	226	A>G		No	ExAC TOPMed gnomAD ClinGen
rs1342884268 CA363478738	229	K>E		No	ClinGen gnomAD
CA363478690 rs1177088540	230	T>I		No	TOPMed ClinGen
CA363478581 rs1298006513	234	L>P		No	gnomAD ClinGen
CA3723493 rs142079533	237	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	237	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363478480 rs1398450285	238	A>G		No	TOPMed ClinGen
COSM3430485 CA136883781 rs986113144	239	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	Ensembl ClinGen cosmic curated NCI-TCGA
rs758897394 CA3723490	241	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs746729327 CA136883780	242	E>D		No	gnomAD ClinGen
rs1562313565 CA363478225	247	F>L		No	Ensembl ClinGen
CA3723486 rs143978212	252	K>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA363478030 rs1211876082	252	K>Q		No	gnomAD ClinGen
CA363477864 rs1268927101	256	Q>E		No	gnomAD ClinGen
rs1230474871 CA363477763	258	P>A		No	ClinGen gnomAD
CA363477738 rs1224589982	258	P>L		No	TOPMed ClinGen
CA3723484 rs753528861	262	E>V		No	ClinGen ExAC gnomAD
rs1175623970 CA363477460	263	K>R		No	ClinGen gnomAD
TCGA novel	269	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3723470 rs778150970	270	R>G		No	ExAC gnomAD ClinGen
CA3723469 rs772614209	270	R>M		No	ExAC gnomAD ClinGen
rs201839863 CA3723467	273	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3723468 rs748660137	273	R>W		No	ExAC gnomAD ClinGen
CA3723464 rs779459428	274	D>V		No	ExAC TOPMed gnomAD ClinGen
CA3723465 rs753330466	274	D>Y		No	ExAC TOPMed gnomAD ClinGen
rs755739151 CA3723463	275	P>L		No	ClinGen ExAC gnomAD
TCGA novel	279	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136883774 rs56013959	284	T>A		No	Ensembl ClinGen
rs1326207013 CA363476785	285	P>S		No	TOPMed gnomAD ClinGen
rs1442591506 CA363476758	286	P>S		No	gnomAD ClinGen
rs763964925 CA3723458	287	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3723459 rs763964925	287	G>W		No	ExAC TOPMed gnomAD ClinGen
CA3723457 rs762883918	288	E>K		No	ExAC TOPMed gnomAD ClinGen
rs1238999547 CA363476596	289	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA363476371 rs1453026753	291	D>E		No	ClinGen gnomAD
rs756919824 CA3723440	293	S>R		No	ClinGen ExAC TOPMed gnomAD
rs5030796 CA3723439	294	G>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs5030796 CA363476249	294	G>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs976108532 CA136883755	295	P>L		No	Ensembl ClinGen
rs368423993 CA3723438	295	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs192008132 CA3723436	298	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192008132 CA363476155	298	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363476078 rs1430695594	299	S>F		No	gnomAD ClinGen
CA3723435 rs766451075	300	Y>C		No	ExAC gnomAD ClinGen
CA363476038 rs1427609881	301	S>N		No	TOPMed ClinGen
rs767779286 CA3723432	303	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3723433 rs773354120	303	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363475911 rs1345048933	306	E>G		No	gnomAD ClinGen
rs1227653790 CA363475805	308	A>V		No	ClinGen TOPMed gnomAD
rs1293222921 CA363475759	311	P>S		No	gnomAD ClinGen
CA136883754 rs375050345	312	W>*		No	ESP TOPMed gnomAD ClinGen
rs1287240081 CA363475690	313	W>C		No	TOPMed ClinGen
rs1384485512 CA363475687	314	E>*		No	TOPMed ClinGen
rs1376051417 CA363475647	315	Q>H		No	ClinGen gnomAD
CA136883753 rs1000966462	317	G>D		No	Ensembl ClinGen
rs769189361 CA363475437	322	E>D		No	ClinGen ExAC gnomAD
rs866752236 CA136883752	324	G>W		No	Ensembl ClinGen
CA3723419 rs777523210	325	R>C		No	ExAC gnomAD ClinGen
rs778148365 CA3723418	325	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1496293 CA363475179 rs1156960014	326	P>L	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA3723417 rs752665892	328	V>M		No	ExAC gnomAD ClinGen
rs1420426262 CA363475039	331	A>G		No	gnomAD ClinGen
rs1163433022 CA363475005	332	N>D		No	gnomAD ClinGen
rs1475189313 CA363474962	334	R>*		No	ClinGen gnomAD
rs765025793 CA3723416	334	R>Q		No	ExAC gnomAD ClinGen
TCGA novel	337	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752053473 CA136883745	344	P>H		No	TOPMed gnomAD ClinGen
rs752053473 CA363474713 RCV001300742	344	P>R		No	TOPMed gnomAD ClinGen ClinVar dbSNP
rs1197574677	345	N>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3723414 rs754947113	345	N>S		No	ExAC gnomAD ClinGen
CA363474566 rs1274865582	349	S>C		No	gnomAD ClinGen
rs751867424 CA3723410	352	L>V		No	ClinGen ExAC gnomAD
TCGA novel	354	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	355	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136883743 rs1017906499	356	L>V		No	TOPMed gnomAD ClinGen
rs775940191 CA3723407	358	N>S		No	ExAC TOPMed gnomAD ClinGen
rs1346037848 CA363474246	359	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
TCGA novel	363	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220909314 CA363474049	365	T>I		No	ClinGen TOPMed
CA3723405 rs760122765	366	R>G		No	ClinGen ExAC gnomAD
CA3723404 rs776072504	366	R>Q		No	ExAC gnomAD ClinGen
CA3723393 rs757475772	369	R>C		No	ExAC TOPMed gnomAD ClinGen
rs1391991648 CA363471400	369	R>H		No	ClinGen gnomAD
rs367554724 CA3723391	371	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs374047504 CA3723390	371	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3723389 rs374047504	371	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1399514002 CA363471298	372	G>E		No	gnomAD ClinGen
COSM303540 rs1384830571 CA363471283	373	E>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA363471209 rs1454323937	375	T>I		No	gnomAD ClinGen
rs1396522179 CA363471090	379	P>L		No	ClinGen gnomAD
rs759939980 CA3723387	381	C>F		No	ClinGen ExAC gnomAD
CA363470835 rs1320059429	389	Q>*		No	TOPMed ClinGen
CA3723385 rs770423167	390	V>G		No	ClinGen ExAC gnomAD
CA136883172 rs926110131	392	V>A		No	Ensembl ClinGen
rs1445255263 CA363470624 COSM1288881	395	K>N	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA3723383 rs772713093	397	W>*		No	ExAC gnomAD ClinGen
rs771582528 CA3723382	398	R>C		No	ExAC TOPMed gnomAD ClinGen
rs559643914 CA3723381	398	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3723380 rs559643914	398	R>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA136883170 rs559643914	398	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1226063376 CA363470540	399	E>V		No	TOPMed ClinGen
rs768532513 CA3723379	401	G>R		No	ExAC gnomAD ClinGen
CA363470427 rs1362893849	402	L>P		No	gnomAD ClinGen
CA136883169 rs960290066	403	S>T		No	ClinGen gnomAD
rs780194644 CA3723377	404	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs756138017 CA3723376	409	R>C		No	ExAC TOPMed gnomAD ClinGen
rs755082499 CA3723375	409	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs755082499 CA136883168	409	R>L		No	ExAC gnomAD ClinGen
TCGA novel	410	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3723373 rs758503469	410	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs755403480 CA3723372	411	A>D		No	ExAC TOPMed gnomAD ClinGen
rs755403480 CA3723371	411	A>G		No	ExAC TOPMed gnomAD ClinGen
rs755403480 CA3723370	411	A>V		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	412	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3723369 rs754331025	413	L>V		No	ExAC gnomAD ClinGen
rs1474269607 CA363469939	416	V>A		No	TOPMed gnomAD ClinGen
TCGA novel	417	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363469792 rs1188514337 COSM1195061	421	E>Q	lung [Cosmic]	No	gnomAD ClinGen cosmic curated
rs779253524 CA3723353	425	D>G		No	ExAC gnomAD ClinGen
rs755197138 CA363469582	426	R>G		No	ExAC TOPMed gnomAD ClinGen
rs141442235 CA3723351	426	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs755197138 CA3723352	426	R>W		No	ExAC TOPMed gnomAD ClinGen
rs756589398 CA3723349	429	H>Q		No	ExAC TOPMed gnomAD ClinGen
rs766750454 CA3723350	429	H>Y		No	ExAC gnomAD ClinGen
rs1443225189 CA363469206	438	L>S		No	TOPMed ClinGen
rs934402637 CA136883152	439	D>E		No	Ensembl ClinGen
rs761439329 CA3723345	440	W>C		No	ClinGen ExAC gnomAD
CA3723344 rs773743938	441	D>G		No	ExAC gnomAD ClinGen
CA3723342 rs762729609	442	R>P		No	ClinGen ExAC gnomAD
CA136883151 rs567259873	443	A>D		No	1000Genomes ClinGen
CA363469084 rs1366661379	443	A>T		No	gnomAD ClinGen
CA136883148 rs1005273254	446	T>A		No	ClinGen TOPMed
rs1410191462 CA363468924	449	P>L		No	gnomAD ClinGen
TCGA novel rs1259474111 CA363468677	452	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD NCI-TCGA ClinGen
CA3723327 rs781678477	452	S>T		No	ExAC gnomAD ClinGen
CA3723326 rs757705723	453	A>E		No	ExAC gnomAD ClinGen
CA3723325 rs148299902	454	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363468556 rs1280638090	456	T>A		No	gnomAD ClinGen
rs553884107 CA3723324	457	E>D		No	1000Genomes ExAC gnomAD ClinGen
rs916052517 CA136883105	458	A>G		No	ClinGen Ensembl
rs762674443 CA3723323	458	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752441695 CA3723322	460	V>A		No	ExAC gnomAD ClinGen
CA3723320 rs759436288	461	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs765120904 CA3723321	461	R>W		No	ExAC TOPMed ClinGen
rs760551197 CA3723317	464	E>D		No	ClinGen ExAC gnomAD
CA3723318 rs770836689	464	E>K		No	ExAC gnomAD ClinGen
rs1177407896 CA363468240	466	G>V		No	TOPMed ClinGen
CA363468207 rs1464765458	467	I>T		No	gnomAD ClinGen
CA136883104 rs972315243	469	Y>C		No	Ensembl ClinGen
TCGA novel	469	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363468145 rs1194412721	470	R>C		No	TOPMed gnomAD ClinGen
CA363468148 rs1194412721	470	R>G		No	TOPMed gnomAD ClinGen
CA363468140 rs1430605658	470	R>H		No	ClinGen gnomAD
rs768762628 CA3723315	471	S>G		No	ExAC TOPMed gnomAD ClinGen
CA3723314 rs577463754	471	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs768762628 CA136883103	471	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3723311 rs371361977 COSM1173218	473	R>H	oesophagus [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs1342526253 CA363467987	474	L>I		No	ClinGen gnomAD
CA363467854 rs1255040134	477	W>C		No	gnomAD ClinGen
rs141307275 CA3723309	481	L>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA363467651 rs1355973938	484	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs758050525 CA3723306	486	S>P		No	ExAC gnomAD ClinGen
CA136883101 rs986604904	488	I>T		No	Ensembl ClinGen
rs1401785215 CA363467498	488	I>V		No	ClinGen gnomAD
rs752386634	489	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753470812 CA3723282	492	K>M		No	ExAC gnomAD ClinGen
rs1207938111 CA363466888	494	E>K		No	gnomAD ClinGen
CA363466862 rs1355529506	494	E>V		No	gnomAD ClinGen
rs766191219 CA3723281	498	R>C		No	ExAC TOPMed gnomAD ClinGen
COSM596030 CA3723280 rs199533729	498	R>H	lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3723279 rs145482606	500	L>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA363466678 rs1463128956	501	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA3723276 rs775502386	503	V>M		No	ClinGen ExAC gnomAD
CA3723274 rs759777302	504	P>R		No	ClinGen ExAC gnomAD
rs1581644257 CA363466538	506	Y>C		No	Ensembl ClinGen
rs776788242 CA3723273	507	K>N		No	ExAC gnomAD ClinGen
CA363466479 rs1364383576	508	E>*		No	ClinGen TOPMed
rs771315052 CA3723272	510	V>M		No	ClinGen ExAC gnomAD
rs918312502 CA136883097	512	F>I		No	ClinGen TOPMed
CA3723269 rs772669177	513	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748713067 CA3723268	516	V>M		No	ExAC TOPMed gnomAD ClinGen
rs778453377 CA3723267	519	A>T		No	ExAC TOPMed gnomAD ClinGen
rs1218909903 CA363466069	520	Y>C		No	ClinGen gnomAD
CA363465988 rs1207222367	523	Q>R		No	ClinGen TOPMed
CA3723266 rs754512815	524	G>S		No	ExAC gnomAD ClinGen
CA363464680 rs953585891 CA136883091	526	D>E		No	TOPMed ClinGen
rs774777386 CA3723250	527	S>G		No	ClinGen ExAC TOPMed gnomAD
CA363464646 rs769216789	527	S>R		No	ExAC TOPMed gnomAD ClinGen
rs1344450198 CA363464649	527	S>T		No	TOPMed ClinGen
CA136883090 rs868070180 COSM1077696	528	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3723248 rs748675721	529	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs770079404 CA136883089	530	E>A		No	ClinGen Ensembl
CA136883088 rs1013115061	531	V>M		No	Ensembl ClinGen
CA363464522 rs1364850520	532	V>M		No	TOPMed ClinGen
rs1340444945 CA363464511	533	V>M		No	gnomAD ClinGen
rs1398748842 CA363464281	537	R>Q		No	gnomAD ClinGen
CA363464312 rs1283452881	537	R>W		No	TOPMed ClinGen
CA363464205 rs1226248117	539	E>K		No	TOPMed ClinGen
CA3723246 rs769384316	540	T>S		No	ExAC gnomAD ClinGen
rs780936810 CA3723244	541	M>I		No	ExAC gnomAD ClinGen
CA3723245 rs755793713	541	M>T		No	ClinGen ExAC TOPMed gnomAD
CA363463957 rs1581643733	543	G>R		No	Ensembl ClinGen
rs751489753 CA3723242	549	V>A		No	ExAC TOPMed gnomAD ClinGen
CA363463634 rs1317937513	549	V>M		No	TOPMed ClinGen
rs1228649530 CA363463593	550	H>Y		No	ClinGen TOPMed gnomAD
rs1200243035 CA363463504	552	K>E		No	TOPMed ClinGen
CA363463464 rs1271250143	553	D>Y		No	TOPMed ClinGen
CA136883087 rs1031488791	554	T>I		No	Ensembl ClinGen
rs1562301271 CA363463365	556	Y>C		No	ClinGen Ensembl
CA3723240 rs145666289	556	Y>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3723239 rs753824055	557	Q>E		No	ExAC gnomAD ClinGen
rs1562301251 CA363463272	557	Q>H		No	Ensembl ClinGen
rs780275225 CA3723220	559	L>P		No	ClinGen ExAC TOPMed gnomAD
rs568946653 CA3723218	564	V>M		No	1000Genomes ExAC gnomAD ClinGen
rs1264108397 CA363462515	566	H>Y		No	TOPMed ClinGen
CA3723217 rs767777247	567	P>A		No	ExAC ClinGen
rs1375809782 CA363462363	569	L>P		No	TOPMed gnomAD ClinGen
rs763341394 CA3723213 COSM1077695	571	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA3723214 rs764565459	571	R>W		No	ExAC TOPMed gnomAD ClinGen
CA363462312 rs1348044875	572	S>C		No	gnomAD ClinGen
rs56192709 CA3723210 CA3723211	572	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3723212 rs776134310	572	S>T		No	ExAC TOPMed ClinGen
rs1382409187 CA363462196	574	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3723209 rs776123760	575	I>V		No	ExAC gnomAD ClinGen
CA3723208 rs770531279	577	F>C		No	ClinGen ExAC gnomAD
CA136883017 rs746698385	577	F>L		No	ExAC TOPMed gnomAD ClinGen
rs1439498463 CA363462060	577	F>V		No	TOPMed gnomAD ClinGen
CA3723205 rs369555840	578	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3430482 rs772861226 CA3723206	578	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA136883016 rs1012293555	582	D>G		No	TOPMed ClinGen
CA363461792 CA3723201 rs745899593	583	M>I		No	ExAC TOPMed gnomAD ClinGen
rs1196059203 CA363461797	583	M>R		No	gnomAD ClinGen
rs1196059203 CA363461798	583	M>T		No	ClinGen gnomAD
CA3723200 rs781440078	584	D>Y		No	ExAC gnomAD ClinGen
TCGA novel	585	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549461305 CA136883015	586	G>S		No	1000Genomes gnomAD ClinGen
CA363461616 rs1299488110	587	T>I		No	TOPMed ClinGen
CA363461284 rs1422103843	588	G>D		No	gnomAD ClinGen
rs758558468 CA3723179	590	V>G		No	ExAC gnomAD ClinGen
CA363461188 rs1232062981	590	V>M		No	ClinGen TOPMed
CA136883000 rs1040606393	594	P>S		No	ClinGen TOPMed gnomAD
CA3723178 rs765612676	595	A>S		No	ExAC TOPMed gnomAD ClinGen
CA3723177 rs765612676	595	A>T		No	ExAC TOPMed gnomAD ClinGen
CA363460958 rs946811800	596	H>L		No	ClinGen TOPMed
rs946811800 CA136882996	596	H>R		No	TOPMed ClinGen
rs755456922 CA3723176	597	D>N		No	ExAC gnomAD ClinGen
CA3723173 rs760173629	599	N>Y		No	ExAC gnomAD ClinGen
CA3723171 rs767158154	601	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363460528 rs1341102001	602	E>D		No	gnomAD ClinGen
CA3723169 rs774262494	606	R>P		No	ClinGen ExAC gnomAD
CA136882995 rs774262494	606	R>Q		No	ClinGen ExAC gnomAD
COSM3777501 CA3723170 rs761390538	606	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3723167 rs762976775	608	G>R		No	ExAC TOPMed gnomAD ClinGen
rs1247428398 CA363460194	611	A>G		No	ClinGen TOPMed
rs1170531096 CA363460149	612	I>M		No	gnomAD ClinGen
rs139579796 CA3723166	615	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA136882994 rs769635126	616	D>E		No	ExAC gnomAD ClinGen
CA363459953 rs1188990566	617	S>F		No	TOPMed gnomAD ClinGen
CA363459913 rs555534146	618	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147295435 CA3723162	618	R>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs147295435 CA3723161	618	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3723163 rs555534146	618	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs779219346 CA3723160	620	A>G		No	ClinGen ExAC gnomAD
TCGA novel	620	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	620	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458891067 CA363459853	620	A>T		No	gnomAD ClinGen
CA3723159 rs2273613	623	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3723158 rs754212703	624	V>G		No	ExAC gnomAD ClinGen
CA3723155 rs749899220	626	P>L		No	ExAC gnomAD ClinGen
VAR_052649 RCV000833268 CA3723156 rs11531	626	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA136882986 rs999748905	630	G>D		No	ClinGen TOPMed
rs750930449 CA3723138	630	G>S		No	ExAC gnomAD ClinGen
rs1347034287 CA363459116	631	L>P		No	gnomAD ClinGen
TCGA novel	632	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs902501259 CA136882985	638	K>R		No	Ensembl ClinGen
CA363458771 rs1248406525	639	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA363458753 rs1191863263	640	V>A		No	TOPMed ClinGen
CA3723135 rs568855918	643	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
rs752492140 CA3723132	647	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3723133 rs758159125 COSM1443358	647	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA363458425 rs1220185975	648	G>*		No	gnomAD ClinGen
rs1220185975 CA363458415	648	G>R		No	gnomAD ClinGen
CA363458407 rs1364177394	649	L>M		No	gnomAD ClinGen
rs764990990 CA3723131	651	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1273416804 CA363458302	651	R>H	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA136882984 rs902685933	653	I>T		No	TOPMed ClinGen
CA3723130 rs759487566	655	D>G		No	ExAC gnomAD ClinGen
rs1341669949 CA363458094	657	P>A		No	ClinGen gnomAD
rs752333918 CA3723113	665	R>Q		No	ExAC gnomAD ClinGen
rs780293584 CA3723114	665	R>W		No	ExAC gnomAD ClinGen
rs940612260 CA136882977	666	S>*		No	TOPMed gnomAD ClinGen
CA363457490 rs940612260	666	S>L		No	TOPMed gnomAD ClinGen
CA3723111 rs754789870	669	V>M		No	ClinGen ExAC gnomAD
CA363457296 rs1562298406	670	V>A		No	Ensembl ClinGen
CA363457178 rs1458457363	672	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs766263302 CA3723109	675	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1260584796 CA363457143	675	R>W		No	ClinGen TOPMed gnomAD
CA3723107 rs527997607	676	P>L		No	1000Genomes ExAC gnomAD ClinGen
CA363457079 rs1271746938	676	P>S		No	ClinGen gnomAD
rs1581639508 CA363457033	677	Q>P		No	ClinGen Ensembl
CA136882975 rs951747192	680	V>I		No	gnomAD ClinGen
CA3723104 rs775629975	681	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3723103 rs551633326	681	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs777169469 CA3723101	683	G>R		No	ExAC TOPMed gnomAD ClinGen
rs1165579658 CA363456798	683	G>V		No	ClinGen gnomAD
rs771519963 CA3723100	684	E>D		No	ExAC gnomAD ClinGen
CA363456637 rs747572582	689	A>P		No	ExAC gnomAD ClinGen
CA3723099 rs747572582	689	A>T		No	ExAC gnomAD ClinGen
rs1290470849 CA363456615	690	S>G		No	TOPMed ClinGen
rs1440518897 CA363456573	691	A>T		No	TOPMed gnomAD ClinGen
rs1480629503 CA363456509	692	A>G		No	gnomAD ClinGen
CA3723096 rs747824231	692	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363456405 rs1221678633	694	T>I		No	gnomAD ClinGen
CA136882973 rs966585584	695	R>Q		No	TOPMed gnomAD ClinGen
CA363456385 rs1382707525	695	R>W		No	TOPMed ClinGen
CA136882972 rs1019091574	696	G>V		No	Ensembl ClinGen
CA3723093 rs753525966	699	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3723092 rs779873195	699	R>H		No	ClinGen ExAC TOPMed gnomAD
CA363455193 rs1389395911	702	P>R		No	gnomAD ClinGen
rs1562298180 CA363455210	702	P>S		No	Ensembl ClinGen
CA363455152 rs1372545622	704	A>S		No	gnomAD ClinGen
CA363455138 rs1394009242	704	A>V		No	ClinGen TOPMed
CA3723091 rs756014733	706	Q>E		No	ExAC TOPMed gnomAD ClinGen
CA363455045 rs1438741334	707	R>C		No	gnomAD ClinGen
CA136882971 rs949612056	707	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA3723089 rs370990982	709	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs762882519 CA3723088	710	H>Y		No	ExAC gnomAD ClinGen
CA136882970 rs1022252111	712	W>G		No	gnomAD ClinGen
rs202191215 CA3723087	713	M>T		No	ESP ExAC gnomAD ClinGen
CA3723086 rs765338623	715	N>D		No	ExAC gnomAD ClinGen
CA136882969 rs765338623	715	N>H		No	ExAC gnomAD ClinGen
CA3723085 rs759827809	715	N>S		No	ExAC TOPMed gnomAD ClinGen
CA363454600 rs1321846101	716	I>M		No	TOPMed ClinGen
rs777114107 CA3723084	716	I>V		No	ExAC gnomAD ClinGen
CA3723081 rs773917211	717	R>L		No	ExAC TOPMed gnomAD ClinGen
rs773917211 CA3723082 COSM1443357	717	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771466994 CA3723083	717	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA136882960 rs867684488	718	E>D		No	gnomAD ClinGen
CA136882959 rs373316690	720	C>Y		No	TOPMed gnomAD ClinGen
CA136882958 rs749304155	721	I>V		No	gnomAD ClinGen
CA3723058 rs779623482	728	G>S		No	ExAC gnomAD ClinGen
rs1427623903 CA363453764	729	H>R		No	gnomAD ClinGen
CA3723057 rs540387801	730	R>C		No	1000Genomes ExAC gnomAD ClinGen
CA3723056 rs540387801	730	R>G		No	1000Genomes ExAC gnomAD ClinGen
rs781064928 CA3723055	730	R>H	Variant assessed as Somatic; 0.0002312 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363453707 rs781064928	730	R>L		No	ExAC TOPMed gnomAD ClinGen
CA363453670 rs573053563	732	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573053563 CA3723054	732	P>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3723051 rs142836128	736	V>I		No	ESP ExAC gnomAD ClinGen
rs753982792 CA3723050	737	T>A		No	ExAC gnomAD ClinGen
rs766643882 CA3723049	737	T>S		No	ExAC gnomAD ClinGen
rs756424329 CA3723048	740	D>E		No	ExAC gnomAD ClinGen
CA3723047 rs750791937	741	P>S		No	ClinGen ExAC gnomAD
rs767330862 CA3723046	742	A>V		No	ExAC TOPMed gnomAD ClinGen
rs978271376 CA136882956	743	V>M		No	TOPMed gnomAD ClinGen
CA363453302 rs1394960891	744	P>A		No	gnomAD ClinGen
rs372267673 CA3723044	744	P>L		No	1000Genomes ESP ExAC gnomAD ClinGen
rs764521031 CA363453233	745	P>H		No	ExAC TOPMed gnomAD ClinGen
rs764521031 CA3723043	745	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1165039095 CA363453140	747	E>D		No	gnomAD ClinGen
rs762381375 CA3723042	747	E>K		No	ExAC gnomAD ClinGen
rs764768184 CA3723020	748	D>G		No	ExAC TOPMed gnomAD ClinGen
CA3723021 rs764768184	748	D>V		No	ExAC TOPMed gnomAD ClinGen
rs1279302780 CA363452866	750	D>G		No	gnomAD ClinGen
rs376163798 CA3723017	752	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3723018 rs368988920	752	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs765943997 CA136882946	753	Y>H		No	Ensembl ClinGen
rs1402493334 CA363452716	754	W>C		No	gnomAD ClinGen
rs867991903 CA136882945	756	S>R		No	Ensembl ClinGen
CA3723016 rs746755292	758	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746755292 CA363452617	758	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3723015 rs372693339	759	N>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA3723014 rs772110719	759	N>S		No	ExAC TOPMed gnomAD ClinGen
rs748132817 CA3723013	761	A>T		No	ExAC TOPMed gnomAD ClinGen
rs138353806 CA3723012	761	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA3723011 rs55786236	764	R>G		No	ExAC gnomAD ClinGen
CA363452439 rs1480122569	764	R>Q		No	TOPMed gnomAD ClinGen
CA3723010 COSM741860 rs55786236	764	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	768	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264207521 CA363452260	769	K>E		No	gnomAD ClinGen
CA363452172 rs1445469738	770	E>V		No	TOPMed gnomAD ClinGen
CA363452156 rs1284073987	771	F>L		No	ClinGen gnomAD
rs145442830 CA363452129	771	F>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA3723006 rs778162056	772	G>E		No	ExAC gnomAD ClinGen
CA3723007 rs369603016	772	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3723005 rs758873313	773	V>L		No	ExAC gnomAD ClinGen
CA363452009 rs1344369822	774	S>F		No	gnomAD ClinGen
rs140366323 CA3723004	775	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA363451932 rs1379624988	776	D>G		No	TOPMed ClinGen
rs1432533693 CA363451834	777	K>N		No	gnomAD ClinGen
CA363451288 rs1202204792	783	D>E		No	TOPMed ClinGen
rs143162168 CA3722986	784	E>K		No	ESP ExAC gnomAD ClinGen
CA3722985 rs758822153	785	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1172626149 CA363451227	785	D>Y		No	gnomAD ClinGen
rs924551525 CA136882934	789	T>S		No	TOPMed ClinGen
CA3722982 rs755472759	796	F>L		No	ExAC gnomAD ClinGen
CA3722980 rs765844833	800	I>V		No	ClinGen ExAC gnomAD
TCGA novel	801	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760368252 CA3722979	802	G>V		No	ExAC TOPMed gnomAD ClinGen
rs1435523756 CA363450336	806	Q>K		No	gnomAD ClinGen
rs959678459 CA136882927	808	E>G		No	Ensembl ClinGen
TCGA novel	809	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300598478 CA363450068	811	S>G		No	gnomAD ClinGen
rs779600047 CA3722962	811	S>I		No	ExAC TOPMed gnomAD ClinGen
rs1034093310 CA136882926	812	V>A		No	ClinGen Ensembl
CA3722961 rs755517083	815	P>S		No	ExAC TOPMed gnomAD ClinGen
rs762440413 CA3722959	816	G>R		No	ClinGen ExAC gnomAD
CA363449681 rs1276419930	820	E>V		No	ClinGen TOPMed
CA136882923 rs1015656809	823	H>L		No	Ensembl ClinGen
rs762945393 CA3722955	823	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA363449453 rs1192548699	826	L>I		No	TOPMed ClinGen
rs1481102600 CA363449284	829	W>*		No	gnomAD ClinGen
CA136882921 rs200725336	832	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs1174824201 CA363449191	832	R>W		No	TOPMed ClinGen
CA363449074 rs1174136700	834	V>I		No	ClinGen TOPMed gnomAD
rs1198304694 CA363448896	836	L>P		No	gnomAD ClinGen
rs765740371 CA3722950 COSM3346849	841	T>M	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3722948 rs774690433	843	R>T		No	ClinGen ExAC gnomAD
CA363448475 rs1263631079	845	P>S		No	gnomAD ClinGen
CA3722945 rs780355160	847	R>I		No	ExAC gnomAD ClinGen
CA3722946 rs780355160	847	R>K		No	ClinGen ExAC gnomAD
CA363448314 rs1383041669	848	E>G		No	gnomAD ClinGen
rs758102539 CA3722921	849	V>I		No	ExAC TOPMed gnomAD ClinGen
rs368315640 CA3722920	850	Y>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs1340671273 CA363447837	853	A>V		No	TOPMed ClinGen
rs753827366 CA3722917	855	V>M		No	ExAC gnomAD ClinGen
rs761810499 CA3722916	856	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA136882895 rs761810499	856	R>G		No	ExAC gnomAD ClinGen
CA3722914 rs747237558	856	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1428778030 CA363447585	859	H>Y		No	TOPMed gnomAD ClinGen
rs763284804 CA3722912	860	G>S		No	ExAC TOPMed gnomAD ClinGen
rs770347088 CA3722910	861	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3722911 rs775685084	861	R>W		No	ExAC TOPMed gnomAD ClinGen
rs1182485353 CA363447262	866	S>C		No	gnomAD ClinGen
rs777222340 CA3722908	868	G>C		No	ExAC gnomAD ClinGen
CA363446987 rs746462325	871	I>M		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	871	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136882894 rs890102759	872	D>N		No	TOPMed ClinGen
CA3722905 rs777369343	873	P>L		No	ExAC TOPMed gnomAD ClinGen
rs771606736 CA3722904	874	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3722903 rs707926	875	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1356142984 CA363446852	876	V>I		No	TOPMed gnomAD ClinGen
CA3722901 rs754707547	877	I>T		No	ExAC gnomAD ClinGen
CA136882893 rs772591633	878	Y>C		No	Ensembl ClinGen
rs772333709 CA136882892	880	I>M		No	TOPMed gnomAD ClinGen
rs1189088252 CA363446123	887	N>S		No	gnomAD ClinGen
CA363445909 rs1349174138	891	N>S		No	gnomAD ClinGen
rs950006119 CA363445897	892	S>C		No	TOPMed gnomAD ClinGen
CA136882884 rs950006119	892	S>G		No	ClinGen TOPMed gnomAD
rs145065419 CA363445889	893	N>D		No	ESP ExAC TOPMed gnomAD ClinGen
rs145065419 CA3722894	893	N>Y		No	ESP ExAC TOPMed gnomAD ClinGen
CA363445767 rs1284619296	895	D>E		No	gnomAD ClinGen
CA3722890 rs138415788 RCV001200289	896	P>R		No	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA363445731 rs1383659624	897	S>N		No	ClinGen gnomAD
rs766945110 CA3722888	897	S>R		No	ExAC TOPMed gnomAD ClinGen
rs772570606 CA3722886	898	E>K		No	ExAC gnomAD ClinGen
CA363445640 rs1470236165	899	V>A		No	gnomAD ClinGen
rs747621374 CA3722884	903	K>E		No	ExAC gnomAD ClinGen
CA136882883 rs949643092	905	G>E		No	Ensembl ClinGen
CA363444966 rs1339625124	908	A>T		No	ClinGen gnomAD
CA3722861 rs144311815	912	A>V		No	ESP ExAC gnomAD ClinGen
rs202052942 CA363444667	914	I>F		No	1000Genomes TOPMed gnomAD ClinGen
rs202052942 CA136882876	914	I>V		No	1000Genomes TOPMed gnomAD ClinGen
CA363444636 rs1384930956	915	P>T		No	gnomAD ClinGen
CA3722858 COSM1077692 rs370606971	920	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370606971 CA363444351	920	D>Y		No	ESP ExAC TOPMed gnomAD ClinGen
CA363444267 rs757172893	922	L>F		No	ClinGen ExAC gnomAD
rs757172893 CA3722857	922	L>V		No	ExAC gnomAD ClinGen
CA3722856 rs748191897	923	R>Q		No	ClinGen ExAC gnomAD
rs1330959651 CA363444231	923	R>W		No	gnomAD ClinGen
rs779183827 CA3722855	925	G>E		No	ExAC TOPMed gnomAD ClinGen
CA363444056 rs1379223225	927	C>F		No	TOPMed ClinGen
CA363443871 rs1419911404	929	Y>F		No	TOPMed ClinGen
CA3722852 rs766840856	930	M>T		No	ExAC TOPMed gnomAD ClinGen
CA3722853 rs553063573	930	M>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs756430820 CA3722851	931	S>C		No	ExAC gnomAD ClinGen
TCGA novel	931	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750779381 CA3722850	932	Q>E		No	ExAC gnomAD ClinGen
CA3722827 rs752236842	934	R>C		No	ExAC TOPMed gnomAD ClinGen
CA136882865 rs774639970	934	R>H		No	Ensembl ClinGen
rs1328643507 CA363443426	935	D>G		No	ClinGen gnomAD
rs1282548126 CA363443378	936	I>V		No	TOPMed ClinGen
rs1283991542 CA363443183	940	V>G		No	gnomAD ClinGen
rs949612526 CA136882864	941	N>K		No	TOPMed ClinGen
CA3722826 rs764895082	942	R>W		No	ExAC TOPMed gnomAD ClinGen
rs759162633 CA3722825	945	G>D		No	ExAC gnomAD ClinGen
CA363442914 rs1347491282	947	R>C		No	ClinGen gnomAD
rs150882285 CA363442911	947	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs964001255 CA136882863	948	H>N		No	TOPMed ClinGen
CA363442792 rs773230067	951	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3722820 rs772163823	952	K>R		No	ClinGen ExAC gnomAD
rs749328660 CA3722819	956	A>T		No	ExAC gnomAD ClinGen
CA363442400 rs1264770015	960	A>T		No	TOPMed gnomAD ClinGen
CA3722818 rs780044529	962	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs570418189 CA3722817	962	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	965	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136882860 rs552222327	965	G>R		No	Ensembl ClinGen
CA3722816 rs564284500	969	V>M		No	1000Genomes ExAC gnomAD ClinGen
CA363442055 rs1328392095	971	S>L		No	gnomAD ClinGen
TCGA novel	971	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363441993 rs1401631657	972	P>L		No	TOPMed ClinGen
CA3722799 rs745972189	977	G>E		No	ExAC TOPMed gnomAD ClinGen
CA3722800 rs769819741	977	G>R		No	ExAC TOPMed gnomAD ClinGen
CA3722797 rs771173208	978	G>D		No	ExAC gnomAD ClinGen
CA3722798 rs776649176	978	G>S		No	ClinGen ExAC gnomAD
CA3722796 rs747325747	979	H>R		No	ClinGen ExAC gnomAD
rs778160196 CA3722795	982	L>P		No	ExAC gnomAD ClinGen
rs1371966979 CA363439115	985	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA363439125 rs1371966979	985	R>G		No	TOPMed gnomAD ClinGen
rs758873284 CA3722794	985	R>H		No	ExAC gnomAD ClinGen
CA136882828 rs142443188	987	I>V		No	ESP TOPMed gnomAD ClinGen
rs571597169 CA3722793	988	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3722792 rs778475659	988	R>H		No	ExAC TOPMed gnomAD ClinGen
rs199826658 CA3722790	990	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363438930 rs372518287	990	R>H		No	ESP TOPMed gnomAD ClinGen
CA136882827 rs372518287	990	R>L		No	ESP TOPMed gnomAD ClinGen
CA3722788 rs755877227	993	E>Q		No	ClinGen ExAC gnomAD
CA363438729 rs1307142923	996	R>G		No	TOPMed ClinGen
rs750209360 CA3722786	999	N>S		No	ExAC TOPMed gnomAD ClinGen
rs1243342123 CA363438602	1000	Q>E		No	ClinGen gnomAD
CA3722785 rs535772056	1001	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs774097471 CA3722783	1006	D>N		No	ExAC TOPMed gnomAD ClinGen
RCV000962152 VAR_052650 rs1076827 CA3722782	1008	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA3722779 rs781050521	1010	V>I		No	ExAC TOPMed gnomAD ClinGen
CA363438109 rs1562293680	1011	T>S		No	Ensembl ClinGen
CA136882826 rs960151039	1019	L>I		No	TOPMed ClinGen
rs773563309 CA3722777	1020	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA363437694 rs1562293631	1021	E>D		No	Ensembl ClinGen
CA3722776 rs772486359	1021	E>Q		No	ExAC gnomAD ClinGen
rs1416810943 CA363437472	1024	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA363437387 rs1475429156	1026	Y>S		No	TOPMed ClinGen
rs1463928660 CA363436950	1029	C>R		No	gnomAD ClinGen
rs1024703032 CA136882814	1035	N>K		No	gnomAD ClinGen
CA363436569 rs1265700463	1035	N>S		No	gnomAD ClinGen
CA363436512 rs753884532	1036	G>E		No	ExAC TOPMed gnomAD ClinGen
CA3722763 rs753884532	1036	G>V		No	ClinGen ExAC TOPMed gnomAD
rs765740144 CA3722762	1039	Q>*		No	ExAC TOPMed gnomAD ClinGen
RCV000895788 CA3722761 rs201902100	1040	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs773367084 CA3722760	1044	C>R		No	ExAC TOPMed gnomAD ClinGen
CA3722759 rs530764904	1045	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs199535072 CA3722757	1046	R>C		No	ClinGen ExAC TOPMed gnomAD
CA363436136 rs1470323684	1046	R>H		No	TOPMed gnomAD ClinGen
TCGA novel	1046	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363435666 rs1171083155	1054	D>E		No	gnomAD ClinGen
rs5030798 CA363435656	1055	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs5030798 RCV000965204 CA3722755	1055	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA363435561 rs1562293143	1058	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs745374769 CA3722752	1060	L>P		No	ExAC ClinGen
CA136882813 rs960100381	1064	M>T		No	TOPMed ClinGen
CA3722749 rs751290514	1067	V>M		No	ExAC TOPMed gnomAD ClinGen
rs777665186 CA3722748	1068	T>M		No	ExAC TOPMed gnomAD ClinGen
CA3722744 rs760684310	1072	F>L		No	ExAC TOPMed gnomAD ClinGen
CA3722743 rs750537287	1074	R>G		No	ExAC gnomAD ClinGen
rs1448637302 CA363434783	1076	P>S		No	gnomAD ClinGen
rs1361023017 CA363434775	1077	R>G		No	gnomAD ClinGen
CA363434772 rs1443268700	1077	R>Q		No	gnomAD ClinGen
rs1332266068 CA363434730	1079	M>T		No	gnomAD ClinGen
rs529898739 CA3722742	1080	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1170899208 CA363434649	1081	Q>R		No	gnomAD ClinGen
rs558932089 CA3722739	1083	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs763422077 CA3722738	1084	P>A		No	ClinGen ExAC gnomAD
rs200481685 CA3722736	1084	P>L		No	ExAC TOPMed gnomAD ClinGen
rs200481685 CA3722737	1084	P>R		No	ExAC TOPMed gnomAD ClinGen
CA363434561 rs763422077	1084	P>S		No	ExAC gnomAD ClinGen
rs745322193 CA3722734	1088	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776330086 CA3722732	1090	P>R		No	ExAC gnomAD ClinGen
rs1387629455 CA363434274	1090	P>S		No	ClinGen TOPMed gnomAD
rs1039959422 CA136882812	1091	Y>H		No	gnomAD ClinGen
TCGA novel	1091	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1091	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3722731 rs142806041	1092	P>L		No	ESP ExAC gnomAD ClinGen
rs777418717 CA3722729	1093	E>G		No	ClinGen ExAC gnomAD
TCGA novel	1101	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363433510 rs1439007085	1102	P>R		No	gnomAD ClinGen
rs763368542 CA3722717	1102	P>S		No	ExAC TOPMed gnomAD ClinGen
rs765817222 CA3722715	1103	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363433396 COSM1242989 rs1279080119	1106	A>T	oesophagus [Cosmic]	No	TOPMed ClinGen cosmic curated
rs925156761 CA136882804	1106	A>V		No	Ensembl ClinGen
CA363433334 rs776001857	1107	A>S		No	ExAC TOPMed gnomAD ClinGen
CA3722713 rs776001857	1107	A>T		No	ExAC TOPMed gnomAD ClinGen
CA3722711 rs746517180	1111	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1220828241 CA363432925	1114	I>T		No	ClinGen gnomAD
CA3722706 rs373279419	1115	T>K		No	ESP ExAC TOPMed gnomAD ClinGen
COSM1194772 rs373279419 CA3722705	1115	T>M	lung [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs757307005 CA3722703	1116	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA363432849 rs1302296066	1117	A>G		No	TOPMed gnomAD ClinGen
TCGA novel	1117	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs543142503 CA136882803	1118	V>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs543142503 CA3722701	1118	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3722699 rs149378938	1119	R>G		No	ESP ExAC gnomAD ClinGen
CA3722697 rs760115151	1119	R>P		No	ClinGen ExAC gnomAD
rs866639021 CA136882802	1120	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs777127030 CA3722696	1121	L>P		No	ExAC TOPMed gnomAD ClinGen
CA3722695 rs138566905	1122	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs772625826 CA3722693	1122	R>Q		No	ExAC gnomAD ClinGen
rs138566905 CA3722694	1122	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs11540637 CA136882801	1123	A>V		No	Ensembl ClinGen
CA3722691 rs761497924	1124	D>G		No	ExAC TOPMed gnomAD ClinGen
rs913501174 CA136882800	1124	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA136882799 rs768376174	1128	T>I		No	ExAC TOPMed gnomAD ClinGen
CA3722688 rs768376174	1128	T>N		No	ExAC TOPMed gnomAD ClinGen
rs1464537773 CA363432281	1129	R>W		No	TOPMed gnomAD ClinGen
CA363432253 rs1310599485	1130	I>F		No	ClinGen gnomAD
rs1368016403 CA363432205	1131	R>L		No	TOPMed gnomAD ClinGen
CA363432233 rs1368016403	1131	R>Q		No	ClinGen TOPMed gnomAD
rs141774873 CA3722686	1131	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs769764623 CA3722685	1132	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1007118536 CA136882798	1133	D>H		No	ClinGen Ensembl
CA363431942 rs1346687004	1136	L>P		No	TOPMed ClinGen
TCGA novel	1137	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311941288 CA363431889	1138	V>A		No	ClinGen gnomAD
CA363431844 rs1410037703	1139	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA136882791 rs997161701	1140	D>N		No	ClinGen TOPMed gnomAD
CA363431798 rs1445670549	1141	E>K		No	TOPMed ClinGen
rs1166406346 CA363431767	1142	A>T		No	gnomAD ClinGen
CA3722672 rs773939063	1142	A>V		No	ClinGen ExAC gnomAD
TCGA novel	1143	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3722671 rs768322700	1143	T>M		No	ExAC gnomAD ClinGen
CA3722669 rs559132372	1144	G>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363431646 rs1250081822	1145	A>D		No	TOPMed gnomAD ClinGen
rs537143804 CA3722667	1145	A>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs777995104 CA3722666	1146	L>Q		No	ExAC gnomAD ClinGen
rs1267795744 CA363431525	1147	A>V		No	TOPMed gnomAD ClinGen
CA3722665 rs772210947	1148	S>L		No	ExAC TOPMed gnomAD ClinGen
CA3722663 rs779226448	1149	A>T		No	ExAC gnomAD ClinGen
CA363431451 rs1228621738	1149	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA3722661 rs754196635	1151	S>L		No	ExAC gnomAD ClinGen
rs1300555678 CA363431389	1152	G>S		No	ClinGen TOPMed
rs756627014 CA3722659	1153	Y>C		No	ExAC gnomAD ClinGen
CA3722656 rs548042700 CA363431331	1154	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548042700 CA3722657	1154	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA136882789 rs955659516	1155	Q>*		No	gnomAD ClinGen
rs762563641 CA3722653	1155	Q>H		No	ExAC gnomAD ClinGen
rs763707197 CA3722654	1155	Q>P		No	ExAC gnomAD ClinGen
rs1181320445 CA363431289	1156	A>T		No	ClinGen TOPMed gnomAD
rs1452595009 CA363431244	1158	A>S		No	gnomAD ClinGen
rs1452595009 CA363431248	1158	A>T		No	ClinGen gnomAD
CA363431215 rs1208646159	1159	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA363431204 rs765007630	1159	S>R		No	ClinGen ExAC TOPMed gnomAD
CA136882788 rs371570157	1160	A>S		No	ESP gnomAD ClinGen
rs371570157 CA363431193	1160	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP gnomAD ClinGen NCI-TCGA
rs759379173 CA363431163	1161	G>D		No	ExAC gnomAD ClinGen
CA3722650 rs759379173	1161	G>V		No	ExAC gnomAD ClinGen
CA363431141 rs1277454829	1162	V>A		No	ClinGen gnomAD
rs1237854435 CA363431082	1164	A>V		No	gnomAD ClinGen
CA363431077 rs1331528732	1165	V>I		No	gnomAD ClinGen
rs1303131772 CA363431022	1167	A>T		No	gnomAD ClinGen
rs1385010228 CA363430998	1167	A>V		No	gnomAD ClinGen
CA363430962 rs1393577333	1169	G>E		No	ClinGen gnomAD
rs370974355 CA3722649	1170	A>V		No	ExAC gnomAD ClinGen
rs530019241 CA3722647	1171	P>H		No	1000Genomes ExAC gnomAD ClinGen
rs530019241 CA363430903	1171	P>L		No	1000Genomes ExAC gnomAD ClinGen
CA363430889 rs1379733368	1172	A>D		No	gnomAD ClinGen
rs376835939 CA363430892	1172	A>S		No	gnomAD ClinGen
rs376835939 CA136882785	1172	A>T		No	gnomAD ClinGen
rs768896363 CA3722645	1173	P>L		No	ExAC TOPMed gnomAD ClinGen
CA363430859 rs1562291564	1174	Q>*		No	ClinGen Ensembl
CA3722644 rs200588763	1174	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1562291551 CA363430856	1174	Q>P		No	Ensembl ClinGen
CA363430798 rs756380009	1177	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3722642 rs756380009	1177	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1345205908 CA363430750	1180	L>V		No	gnomAD ClinGen
rs1257556483 CA363430672	1183	D>E		No	TOPMed gnomAD ClinGen
CA3722640 rs140736335	1184	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
CA363430663 rs140736335	1184	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA363430505 rs1323845982	1190	Q>R		No	TOPMed ClinGen
CA136882782 rs903673048	1195	V>G		No	TOPMed ClinGen
CA3722637 rs34120100	1195	V>L		No	ExAC TOPMed gnomAD ClinGen
CA136882783 rs34120100	1195	V>M		No	ExAC TOPMed gnomAD ClinGen
rs752223950 CA3722635	1199	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3722636 rs141077941	1199	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1215634991 CA363430144	1202	G>S		No	TOPMed ClinGen
rs145835613 CA3722634	1202	G>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA136882780 rs185850545	1205	Q>*		No	1000Genomes ClinGen
CA363430063 rs1182804650	1205	Q>H		No	TOPMed ClinGen
rs1364121499 CA363429992	1207	K>R		No	TOPMed ClinGen
CA3722629 rs774556830	1209	V>F		No	ExAC gnomAD ClinGen
rs749404027 CA3722628	1213	R>G		No	ExAC gnomAD ClinGen
CA136882779 rs896365541	1213	R>Q		No	TOPMed gnomAD ClinGen
rs749404027 CA3722627	1213	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs951705885	1214	Q>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs781588286 CA3722622	1215	A>G		No	ExAC ClinGen
CA3722623 rs746203901	1215	A>T		No	ExAC TOPMed ClinGen
rs181542871 CA3722621	1217	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778347232 CA3722619	1218	L>V		No	ExAC gnomAD ClinGen
CA3722616 rs764755261	1221	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3722615 rs774502891	1221	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774502891 CA363429534	1221	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3722614 rs375257266	1222	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs1371633995 CA363429478	1222	R>H		No	gnomAD ClinGen
rs766331691 COSM596036 CA3722613	1225	S>L	lung Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA363429444 rs1170804825	1225	S>P		No	gnomAD ClinGen
rs767516162 CA3722610	1226	G>D		No	ExAC TOPMed gnomAD ClinGen
rs563920745 CA3722611	1226	G>S		No	1000Genomes ExAC ClinGen
rs866286760 CA136882777	1231	V>L		No	Ensembl ClinGen
COSM76980 rs1472868752 CA363429219	1232	P>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs139977182 CA3722605	1234	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1206964821 CA363429093	1236	Q>*		No	gnomAD ClinGen
COSM1443355 CA363429089 rs1475458732	1236	Q>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs1436036900 CA363428915	1241	A>V		No	gnomAD ClinGen
rs778093044 CA3722602	1242	K>Q		No	ExAC TOPMed gnomAD ClinGen
rs1189002134 CA363426893	1247	E>G		No	TOPMed ClinGen
CA3722590 rs765370489	1248	A>T		No	ExAC gnomAD ClinGen
CA363426698 rs1213097005	1253	V>A		No	gnomAD ClinGen
TCGA novel	1253	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043937294 CA136882667	1254	D>E		No	TOPMed ClinGen
rs868386963 CA136882666	1256	A>S		No	TOPMed ClinGen
CA363426591 rs1330119096	1258	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA3722587 rs368578379	1259	L>I		No	ESP ExAC gnomAD ClinGen
rs1010763404 CA136882665	1262	K>E		No	TOPMed ClinGen
TCGA novel	1264	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with P26640

[MIM: 617802]: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA)

An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy. {ECO:0000269|PubMed:26539891}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy. {ECO:0000269|PubMed:26539891}. Note=The disease may be caused by variants affecting the gene represented in this entry.

6 regional properties for P26640

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	344 - 355	IPR001412
domain	Aminoacyl-tRNA synthetase, class Ia	309 - 939	IPR002300
domain	Glutathione S-transferase, C-terminal	123 - 198	IPR004046
domain	Glutathione S-transferase, C-terminal-like	89 - 219	IPR010987
domain	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding	984 - 1132	IPR013155
domain	Valyl tRNA synthetase, anticodon-binding domain	938 - 1075	IPR033705

Functions

		Description
EC Number	6.1.1.9	Ligases forming aminoacyl-tRNA and related compounds
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name	Definition
aminoacyl-tRNA editing activity	The hydrolysis of an incorrectly aminoacylated tRNA.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
valine-tRNA ligase activity	Catalysis of the reaction: L-valine + ATP + tRNA(Val) = L-valyl-tRNA(Val) + AMP + diphosphate + 2 H(+).

2 GO annotations of biological process

Name	Definition
tRNA aminoacylation for protein translation	The synthesis of aminoacyl tRNA by the formation of an ester bond between the 3'-hydroxyl group of the most 3' adenosine of the tRNA and the alpha carboxylic acid group of an amino acid, to be used in ribosome-mediated polypeptide synthesis.
valyl-tRNA aminoacylation	The process of coupling valine to valyl-tRNA, catalyzed by valyl-tRNA synthetase. The valyl-tRNA synthetase is a class-I synthetase. The activated amino acid is transferred to the 2'-OH group of a valine-accetping tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2NL00	GSTT1	Glutathione S-transferase theta-1	Bos taurus (Bovine)	PR
Q3SZV3	EEF1G	Elongation factor 1-gamma	Bos taurus (Bovine)	PR
P07118	valS	Valine--tRNA ligase	Escherichia coli (strain K12)	PR
P0CG30	GSTT2B	Glutathione S-transferase theta-2B	Homo sapiens (Human)	PR
P26641	EEF1G	Elongation factor 1-gamma	Homo sapiens (Human)	PR
Q5ST30	VARS2	Valine--tRNA ligase, mitochondrial	Homo sapiens (Human)	PR
Q9D8N0	Eef1g	Elongation factor 1-gamma	Mus musculus (Mouse)	PR
Q9Z1Q9	Vars1	Valine--tRNA ligase	Mus musculus (Mouse)	PR
Q29387	EEF1G	Elongation factor 1-gamma	Sus scrofa (Pig)	PR
Q68FR6	Eef1g	Elongation factor 1-gamma	Rattus norvegicus (Rat)	PR
P30713	Gstt2	Glutathione S-transferase theta-2	Rattus norvegicus (Rat)	PR
Q04462	Vars1	Valine--tRNA ligase	Rattus norvegicus (Rat)	PR
Q5TM74	VARS2	Valine--tRNA ligase, mitochondrial	Macaca mulatta (Rhesus macaque)	PR
Q6YW46	Os02g0220500	Elongation factor 1-gamma 2	Oryza sativa subsp japonica (Rice)	PR
Q9ZRI7	Os02g0220600	Elongation factor 1-gamma 1	Oryza sativa subsp japonica (Rice)	PR
Q5Z627	Os06g0571400	Elongation factor 1-gamma 3	Oryza sativa subsp japonica (Rice)	PR
P54412	eef-1G	Probable elongation factor 1-gamma	Caenorhabditis elegans	PR
Q9U1Q4	glp-4	Valine--tRNA ligase	Caenorhabditis elegans	PR
P93736	TWN2	Valine--tRNA ligase, mitochondrial 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6PE25	eef1g	Elongation factor 1-gamma	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSTLYVSPHP	DAFPSLRALI	AARYGEAGEG	PGWGGAHPRI	CLQPPPTSRT	PFPPPRLPAL
70	80	90	100	110	120
EQGPGGLWVW	GATAVAQLLW	PAGLGGPGGS	RAAVLVQQWV	SYADTELIPA	ACGATLPALG
130	140	150	160	170	180
LRSSAQDPQA	VLGALGRALS	PLEEWLRLHT	YLAGEAPTLA	DLAAVTALLL	PFRYVLDPPA
190	200	210	220	230	240
RRIWNNVTRW	FVTCVRQPEF	RAVLGEVVLY	SGARPLSHQP	GPEAPALPKT	AAQLKKEAKK
250	260	270	280	290	300
REKLEKFQQK	QKIQQQQPPP	GEKKPKPEKR	EKRDPGVITY	DLPTPPGEKK	DVSGPMPDSY
310	320	330	340	350	360
SPRYVEAAWY	PWWEQQGFFK	PEYGRPNVSA	ANPRGVFMMC	IPPPNVTGSL	HLGHALTNAI
370	380	390	400	410	420
QDSLTRWHRM	RGETTLWNPG	CDHAGIATQV	VVEKKLWREQ	GLSRHQLGRE	AFLQEVWKWK
430	440	450	460	470	480
EEKGDRIYHQ	LKKLGSSLDW	DRACFTMDPK	LSAAVTEAFV	RLHEEGIIYR	STRLVNWSCT
490	500	510	520	530	540
LNSAISDIEV	DKKELTGRTL	LSVPGYKEKV	EFGVLVSFAY	KVQGSDSDEE	VVVATTRIET
550	560	570	580	590	600
MLGDVAVAVH	PKDTRYQHLK	GKNVIHPFLS	RSLPIVFDEF	VDMDFGTGAV	KITPAHDQND
610	620	630	640	650	660
YEVGQRHGLE	AISIMDSRGA	LINVPPPFLG	LPRFEARKAV	LVALKERGLF	RGIEDNPMVV
670	680	690	700	710	720
PLCNRSKDVV	EPLLRPQWYV	RCGEMAQAAS	AAVTRGDLRI	LPEAHQRTWH	AWMDNIREWC
730	740	750	760	770	780
ISRQLWWGHR	IPAYFVTVSD	PAVPPGEDPD	GRYWVSGRNE	AEAREKAAKE	FGVSPDKISL
790	800	810	820	830	840
QQDEDVLDTW	FSSGLFPLSI	LGWPNQSEDL	SVFYPGTLLE	TGHDILFFWV	ARMVMLGLKL
850	860	870	880	890	900
TGRLPFREVY	LHAIVRDAHG	RKMSKSLGNV	IDPLDVIYGI	SLQGLHNQLL	NSNLDPSEVE
910	920	930	940	950	960
KAKEGQKADF	PAGIPECGTD	ALRFGLCAYM	SQGRDINLDV	NRILGYRHFC	NKLWNATKFA
970	980	990	1000	1010	1020
LRGLGKGFVP	SPTSQPGGHE	SLVDRWIRSR	LTEAVRLSNQ	GFQAYDFPAV	TTAQYSFWLY
1030	1040	1050	1060	1070	1080
ELCDVYLECL	KPVLNGVDQV	AAECARQTLY	TCLDVGLRLL	SPFMPFVTEE	LFQRLPRRMP
1090	1100	1110	1120	1130	1140
QAPPSLCVTP	YPEPSECSWK	DPEAEAALEL	ALSITRAVRS	LRADYNLTRI	RPDCFLEVAD
1150	1160	1170	1180	1190	1200
EATGALASAV	SGYVQALASA	GVVAVLALGA	PAPQGCAVAL	ASDRCSIHLQ	LQGLVDPARE
1210	1220	1230	1240	1250	1260
LGKLQAKRVE	AQRQAQRLRE	RRAASGYPVK	VPLEVQEADE	AKLQQTEAEL	RKVDEAIALF

QKML