AiPD: Autoinhibited Protein Database

P42695

Gene name	NCAPD3
Protein name	Condensin-2 complex subunit D3
Names	Non-SMC condensin II complex subunit D3, hCAP-D3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23310
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1277-1358 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1277-1358 (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 P42695

Entry ID	Method	Resolution	Chain	Position	Source
AF-P42695-F1	Predicted				AlphaFoldDB

1311 variants for P42695

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6372077 RCV001252590 rs112183153	42	I>T	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002570520 rs200432850 CA6372027 RCV001252589	102	K>Q	Intellectual disability Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs140427183 RCV001330630 CA6371830 RCV002546400	334	A>T	Inborn genetic diseases Microcephaly 22, primary, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002673977 rs112640641 CA6371807	340	A>T	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001252588 CA6371536 RCV000886817 rs73603039	576	G>D	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1555139372 RCV000627672	595	V>missing	Microcephaly 22, primary, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
RCV001333837 CA383515757 rs1249831283	688	A>S	Microcephaly 22, primary, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001330632 CA6371396 COSM925163 rs143833204	712	T>M	endometrium Microcephaly 22, primary, autosomal recessive [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6371358 RCV001330633 rs138551616	753	N>D	Microcephaly 22, primary, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6371352 rs141965615 RCV001252586 RCV000913483 RCV002540858	760	C>G	Intellectual disability Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1207215795 RCV001330634	903	A>T	Microcephaly 22, primary, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
rs773824610 RCV001334828	1093	K>missing	Microcephaly 22, primary, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
CA383500226 VAR_080955 rs1350194762 RCV000627674	1153	E>A	Microcephaly 22, primary, autosomal recessive MCPH22; impairs mitotic chromosome compaction [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs757369291 RCV001252587	1171	E>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
CA6370558 rs116394634 RCV001252585 RCV000957035	1388	T>M	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383527978 rs1316773278	3	A>S		No	ClinGen gnomAD
CA383527980 rs1316773278	3	A>T		No	ClinGen gnomAD
rs772537684 CA6372142	3	A>V		No	ClinGen ExAC gnomAD
CA6372137 rs778042319	4	L>W		No	ClinGen ExAC gnomAD
CA6372135 rs746786120	5	R>W		No	ClinGen ExAC gnomAD
rs376811282 CA6372132	6	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA231322183 rs374718859	6	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6372133 rs374718859	6	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376811282 CA383527963	6	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312590010 CA383527949	9	S>G		No	ClinGen TOPMed gnomAD
CA383527946 rs1459082259	9	S>T		No	ClinGen TOPMed
rs763782598 CA383527942	10	G>C		No	ClinGen ExAC gnomAD
CA6372128 rs763782598	10	G>R		No	ClinGen ExAC gnomAD
CA6372126 rs370054362	11	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6372125 rs563754843	12	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA383527923 rs1407270096	13	P>H		No	ClinGen gnomAD
rs1302916396 CA383527908	15	C>Y		No	ClinGen gnomAD
CA6372123 rs774833579	18	D>G		No	ClinGen ExAC gnomAD
CA231322118 rs367620628	20	R>G		No	ClinGen ESP TOPMed gnomAD
rs771054704 CA6372122	21	L>R		No	ClinGen ExAC gnomAD
CA383527873 rs1171350618	21	L>V		No	ClinGen gnomAD
CA6372090 rs755574391	22	E>G		No	ClinGen ExAC TOPMed gnomAD
CA383527868 rs1417438109	22	E>K		No	ClinGen gnomAD
rs1399293581 CA383527367	23	W>*		No	ClinGen gnomAD
rs1483603141 CA383527342	25	D>H		No	ClinGen TOPMed
CA6372088 rs780798076	29	E>K		No	ClinGen ExAC gnomAD
CA383527271 rs1424999369	30	L>M		No	ClinGen gnomAD
CA383527270 rs1424999369	30	L>V		No	ClinGen gnomAD
rs369877431 CA6372087	33	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6372085 rs763009764	35	T>A		No	ClinGen ExAC TOPMed gnomAD
rs758878432 CA6372084	35	T>S		No	ClinGen ExAC gnomAD
rs750469595 CA6372083	36	E>K		No	ClinGen ExAC gnomAD
rs765428510 CA6372082	38	L>F		No	ClinGen ExAC TOPMed
rs1200615140 CA383527171	39	D>G		No	ClinGen gnomAD
rs761975614 CA6372081	39	D>Y		No	ClinGen ExAC TOPMed
CA6372080 rs777044701	40	P>L		No	ClinGen ExAC gnomAD
CA6372079 rs764383149	41	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6372076 rs770787355	45	E>Q		No	ClinGen ExAC gnomAD
CA6372074 rs773009502	47	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383527080 COSM24346 rs1300777308	48	E>G	lung large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs769394867 CA6372073	49	T>S		No	ClinGen ExAC gnomAD
rs780852909 CA6372071	50	G>R		No	ClinGen ExAC gnomAD
CA383527051 rs1467126815	51	L>M		No	ClinGen TOPMed
CA383527033 rs1321231617	52	A>V		No	ClinGen gnomAD
CA383527019 rs754572823	53	A>G		No	ClinGen ExAC gnomAD
rs1411264771 CA383527027	53	A>T		No	ClinGen gnomAD
rs754572823 CA6372070	53	A>V		No	ClinGen ExAC gnomAD
rs1166789088 CA383527013	54	F>V		No	ClinGen gnomAD
rs1179398842 CA383526997	55	T>R		No	ClinGen TOPMed gnomAD
rs780394755 COSM1352755 CA231318747	58	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6372069 rs747385034	58	Y>H		No	ClinGen ExAC gnomAD
rs780394755 CA6372068	58	Y>S		No	ClinGen ExAC gnomAD
rs183956373 CA6372067	60	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA231318671 rs529148447	65	A>D		No	ClinGen Ensembl
CA6372063 rs61752296	65	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6372062 rs542933095	66	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs377418096 CA383526810	70	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377418096 CA6372061	70	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383526799 rs760924461	71	S>C		No	ClinGen ExAC gnomAD
CA6372060 rs760924461	71	S>F		No	ClinGen ExAC gnomAD
rs560307843 CA231318660	72	M>V		No	ClinGen 1000Genomes gnomAD
rs751317114 CA6372059	73	E>D		No	ClinGen ExAC gnomAD
CA231315170 rs1057442529	74	S>N		No	ClinGen TOPMed
rs767604094 CA6372038	74	S>R		No	ClinGen ExAC gnomAD
CA231315160 rs937324442	75	I>V		No	ClinGen TOPMed gnomAD
CA383526604 rs1157123834	76	W>*		No	ClinGen gnomAD
CA6372035 rs765170314	78	F>V		No	ClinGen ExAC gnomAD
rs1259265579 CA383526565	79	F>L		No	ClinGen gnomAD
rs1181362860 CA383526561	80	I>V		No	ClinGen gnomAD
CA6372033 rs780071529	81	E>G		No	ClinGen ExAC TOPMed gnomAD
rs761669614 CA6372034	81	E>K		No	ClinGen ExAC gnomAD
rs775252976 CA6372030	83	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6372031 rs760085022	83	N>Y		No	ClinGen ExAC
rs1285042924 CA383526513	84	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201370429 CA6372029	86	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361171624 CA383526477	87	S>G		No	ClinGen gnomAD
rs1376285766 CA383526376	95	H>R		No	ClinGen TOPMed gnomAD
CA383526331 rs1432069953	101	H>P		No	ClinGen gnomAD
rs200432850 CA231315045	102	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1197698 CA231315035 rs918744352	105	V>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA383526231 rs1245539534	108	Q>R		No	ClinGen TOPMed
rs756301605 CA6372024	110	R>G		No	ClinGen ExAC gnomAD
rs1267307720 CA383526203	110	R>Q		No	ClinGen TOPMed
CA383526170 rs1403695951	112	Y>*		No	ClinGen gnomAD
TCGA novel	115	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6372022 rs752677478	115	H>Y		No	ClinGen ExAC gnomAD
CA231314962 rs961769271	117	A>D		No	ClinGen TOPMed
CA6372020 rs755095327	117	A>S		No	ClinGen ExAC TOPMed gnomAD
CA383526121 rs755095327	117	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1555143328 CA383526033	125	E>*		No	ClinGen Ensembl
rs1292082523 CA383526023	126	V>I		No	ClinGen gnomAD
rs138304642 CA6372003	130	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA383525534 rs138304642	130	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456937596 CA383525528	131	A>D		No	ClinGen Ensembl
CA6372002 rs748272211	131	A>T		No	ClinGen ExAC gnomAD
rs755076357 CA6372000	133	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1316699391 CA383525506	134	V>A		No	ClinGen gnomAD
CA383525480 rs1256738361	138	V>L		No	ClinGen gnomAD
CA231309859 rs968838629	141	D>N		No	ClinGen TOPMed gnomAD
CA6371998 rs780224024	143	C>F		No	ClinGen ExAC gnomAD
CA383525436 rs757087344	144	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1375810611 CA383525432	144	I>M		No	ClinGen gnomAD
CA6371997 rs757087344	144	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6371996 rs753593094	149	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1186446476 CA383525397	150	S>R		No	ClinGen TOPMed
CA383525388 rs1418450190	151	W>R		No	ClinGen TOPMed
rs775876981 CA6371994	154	E>D		No	ClinGen ExAC gnomAD
rs1199682035 CA383525349	156	N>S		No	ClinGen gnomAD
COSM204323 rs1172386446 CA383525328	159	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs767003236 CA6371992	159	R>W		No	ClinGen ExAC gnomAD
rs766087793 CA6371989	160	K>*		No	ClinGen ExAC gnomAD
rs766087793 CA6371990	160	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1260293074 CA383525309	162	K>R		No	ClinGen gnomAD
rs1591860979 CA383525280	166	P>A		No	ClinGen Ensembl
rs12797438 CA231309805	166	P>L		No	ClinGen Ensembl
rs1178810472 COSM1352753 CA383525273	167	K>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1456967070 CA383525266	168	S>C		No	ClinGen gnomAD
rs200474426 CA231309778	168	S>N		No	ClinGen TOPMed
rs763430647 CA6371987	172	N>S		No	ClinGen ExAC gnomAD
rs1206190594 CA383525234	173	P>T		No	ClinGen gnomAD
rs1208510849 CA383525225	174	G>E		No	ClinGen gnomAD
rs770335879 CA6371985	174	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6371984 rs748665790	175	R>T		No	ClinGen ExAC TOPMed gnomAD
CA383525214 rs1308043184	176	H>P		No	ClinGen gnomAD
CA6371983 rs777179980	178	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768663760 CA6371982	179	R>W		No	ClinGen ExAC gnomAD
rs200885772 CA6371981	180	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs970858667 CA231309748	181	K>E		No	ClinGen TOPMed
CA383525167 rs1383154738	183	P>R		No	ClinGen TOPMed
rs960016409 CA231309742	184	R>S		No	ClinGen TOPMed gnomAD
CA383525135 rs1222365167	186	E>K		No	ClinGen TOPMed
CA383525112 rs1464376384	187	D>N		No	ClinGen TOPMed gnomAD
CA383525108 rs1464376384	187	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	188	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371977 rs148973912	188	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145870781 CA6371976	189	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6371951 rs779773780	190	M>R		No	ClinGen ExAC TOPMed gnomAD
CA231308928 rs779773780	190	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1371447756 CA383524896	190	M>V		No	ClinGen TOPMed gnomAD
rs757964707 CA6371950	191	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	191	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	192	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750089797 CA6371949	194	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6371948 rs764909280	194	I>M		No	ClinGen ExAC gnomAD
rs750089797 CA383524825	194	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	196	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376989765 CA6371947	197	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383524748 rs1319921058	197	Q>H		No	ClinGen gnomAD
rs1591860264 CA383524751	197	Q>R		No	ClinGen Ensembl
rs764526954 CA6371945	198	E>G		No	ClinGen ExAC gnomAD
CA6371946 rs554494956	198	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182724339 CA6371944	200	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383524666 rs1325167121	202	I>M		No	ClinGen TOPMed gnomAD
rs112803017 CA231308867	202	I>T		No	ClinGen TOPMed
CA383524675 rs1320815069	202	I>V		No	ClinGen TOPMed
rs775972496 CA6371943	203	C>R		No	ClinGen ExAC gnomAD
rs746567914 CA231308865	203	C>Y		No	ClinGen TOPMed gnomAD
rs1463009993 CA383524608	206	A>S		No	ClinGen gnomAD
CA231308850 rs908818571	207	R>Q		No	ClinGen TOPMed gnomAD
CA6371942 rs369068547	207	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs774478261 CA6371940	213	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs987038260 CA231308832	213	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA383524479 rs1195759924	214	N>Y		No	ClinGen TOPMed
CA6371939 rs771133475	216	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	220	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175927879 CA383524416	220	L>S		No	ClinGen TOPMed
rs747906896 CA6371938	221	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772725081 CA231308822	223	F>L		No	ClinGen TOPMed gnomAD
CA6371934 rs780113597	227	L>V		No	ClinGen ExAC gnomAD
TCGA novel	229	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371931 rs778455089	229	K>R		No	ClinGen ExAC TOPMed gnomAD
CA383524330 rs1401076677	230	F>L		No	ClinGen TOPMed
rs1233631590 CA383524323	230	F>Y		No	ClinGen gnomAD
CA6371929 rs754162455	233	K>R		No	ClinGen ExAC gnomAD
CA6371928 rs764513207	235	K>M		No	ClinGen ExAC TOPMed gnomAD
rs753252840 CA6371926	239	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1331306002 CA383524178	240	Q>H		No	ClinGen gnomAD
rs1431973051 CA383524153	242	C>*		No	ClinGen gnomAD
rs767983388 CA6371925	242	C>F		No	ClinGen ExAC gnomAD
TCGA novel	242	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs190539135 CA231308730	243	I>T		No	ClinGen 1000Genomes
rs759645769 CA6371924	244	E>Q		No	ClinGen ExAC
TCGA novel	245	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383524075 rs1380680328	245	V>I		No	ClinGen gnomAD
rs1289486300 CA383524021	249	L>F		No	ClinGen TOPMed
CA383524017 rs1490184995	250	T>A		No	ClinGen TOPMed
CA6371896 rs772143483	250	T>I		No	ClinGen ExAC gnomAD
CA383523979 rs1555142319	253	E>K		No	ClinGen Ensembl
rs770524104 CA6371893	258	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6371894 rs774146671	258	E>Q		No	ClinGen ExAC gnomAD
CA383523925 rs1360163765	259	C>*		No	ClinGen gnomAD
rs1420626063 CA383523928	259	C>Y		No	ClinGen gnomAD
CA6371892 rs186127956	260	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383523916 rs1414582454	261	V>I		No	ClinGen gnomAD
rs1379956125 CA383523907	262	T>I		No	ClinGen TOPMed
rs1175658354 CA383523908	262	T>S		No	ClinGen TOPMed
rs748514077 CA6371889	263	Q>R		No	ClinGen ExAC gnomAD
CA383523871 rs1184474977	266	A>S		No	ClinGen gnomAD
CA383523865 rs1239717448	267	L>F		No	ClinGen TOPMed
CA383523866 rs1239717448	267	L>V		No	ClinGen TOPMed
CA6371872 rs774387026	270	A>P		No	ClinGen ExAC gnomAD
CA6371871 rs770736046	272	Y>H		No	ClinGen ExAC gnomAD
rs762548665 CA383523825	273	I>L		No	ClinGen ExAC gnomAD
rs762548665 CA6371870	273	I>V		No	ClinGen ExAC gnomAD
rs1260598737 CA383523818	274	P>A		No	ClinGen gnomAD
CA231308256 rs150739265	279	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150739265 CA6371869	279	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367845141 CA6371867	282	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368576737 CA383523746	285	C>R		No	ClinGen gnomAD
CA231308222 rs1002082022	286	S>C		No	ClinGen TOPMed gnomAD
CA6371864 rs747292250	286	S>P		No	ClinGen ExAC
CA383523732 rs1401114810	287	P>R		No	ClinGen TOPMed
rs1555142292 CA383523720	289	H>R		No	ClinGen Ensembl
CA6371862 rs758770804	290	G>E		No	ClinGen ExAC gnomAD
rs779204174 CA6371860	292	G>R		No	ClinGen ExAC TOPMed
CA383523692 rs1399387900	293	D>G		No	ClinGen gnomAD
CA383523348 rs1174993073	295	V>I		No	ClinGen TOPMed gnomAD
CA6371846 rs775652703	296	I>T		No	ClinGen ExAC gnomAD
CA383523321 rs1439640495	297	S>G		No	ClinGen TOPMed
CA231304019 rs1053016119	297	S>N		No	ClinGen Ensembl
rs1002577765 CA231304007	298	C>F		No	ClinGen Ensembl
CA6371845 rs772483825	301	H>L		No	ClinGen ExAC gnomAD
CA383523263 rs772483825	301	H>R		No	ClinGen ExAC gnomAD
CA383523229 rs1178719574	303	M>I		No	ClinGen TOPMed gnomAD
CA383523214 rs1438496824	306	V>I		No	ClinGen gnomAD
rs75166696 CA6371844 COSM255264	307	I>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA231303971 rs976216720	309	M>I		No	ClinGen TOPMed gnomAD
rs1209104805 CA383523194	309	M>V		No	ClinGen gnomAD
rs749340756 CA6371841	310	L>S		No	ClinGen ExAC gnomAD
CA383523169 rs1371733013	312	V>G		No	ClinGen TOPMed
rs745762178 CA6371840	316	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1304833066 CA383523138	317	H>R		No	ClinGen gnomAD
CA6371838 rs375103050	318	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA383523133 rs375103050	318	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371837 rs766143479	318	R>H		No	ClinGen ExAC TOPMed gnomAD
CA383523125 rs1163369718	319	A>D		No	ClinGen gnomAD
CA6371836 rs758166606	320	P>A		No	ClinGen ExAC gnomAD
CA383523122 rs1412622209	320	P>H		No	ClinGen gnomAD
CA383523120 rs1412622209	320	P>L		No	ClinGen gnomAD
TCGA novel	320	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371835 rs750400770	321	L>V		No	ClinGen ExAC gnomAD
CA6371834 rs765115216	326	Q>P		No	ClinGen ExAC gnomAD
rs1255995004 CA383523083	327	V>I		No	ClinGen gnomAD
rs775942849 CA6371832	332	N>K		No	ClinGen ExAC TOPMed gnomAD
rs763804894 CA6371831	333	Q>E		No	ClinGen ExAC gnomAD
CA383523031 rs544195866	334	A>E		No	ClinGen ExAC TOPMed gnomAD
rs544195866 CA6371829	334	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1000738279 CA231303826	336	Q>R		No	ClinGen TOPMed
rs1322259432 CA383523012	337	F>Y		No	ClinGen gnomAD
CA6371826 rs775029360	338	I>M		No	ClinGen ExAC TOPMed gnomAD
CA383522883 rs112640641	340	A>P		No	ClinGen ExAC TOPMed gnomAD
rs771571458 CA6371806	342	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6371802 rs748214952	349	I>V		No	ClinGen ExAC gnomAD
CA6371801 rs142623638	351	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371800 rs199798325	352	V>L		No	ClinGen ExAC gnomAD
CA6371799 rs745665288	353	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757034392 CA6371797	354	R>C		No	ClinGen ExAC TOPMed gnomAD
CA231302389 rs551193021	354	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
rs371471661 CA6371795	356	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs755611142 CA6371794	357	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	358	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383522588 rs752206036	360	I>F		No	ClinGen ExAC TOPMed gnomAD
rs767294748 CA6371792	360	I>T		No	ClinGen ExAC gnomAD
CA6371793 rs752206036	360	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383522565 rs1448262318	361	C>G		No	ClinGen gnomAD
CA6371791 rs759200958	361	C>S		No	ClinGen ExAC gnomAD
rs765666916 CA6371769	364	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765666916 CA383522392	364	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	366	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157655772 CA383522269	370	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1188031753 CA383522243	371	R>H		No	ClinGen TOPMed gnomAD
rs1239466791 CA383522230	372	T>S		No	ClinGen gnomAD
CA383522207 rs1463520523	373	F>S		No	ClinGen TOPMed
CA383522186 rs1161189738	374	A>V		No	ClinGen Ensembl
rs144614686 CA6371767	375	A>V		No	ClinGen ESP ExAC TOPMed
CA6371765 rs760716371	376	Q>R		No	ClinGen ExAC gnomAD
rs1191215356 CA383521646	377	S>Y		No	ClinGen gnomAD
CA383521643 rs1221506298	378	L>V		No	ClinGen gnomAD
rs772289958 CA6371763	380	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6371760 rs769475096	383	S>T		No	ClinGen ExAC gnomAD
rs748157184 CA6371759	384	K>E		No	ClinGen ExAC gnomAD
CA383521578 rs781242347	385	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6371758 rs781242347	385	L>I		No	ClinGen ExAC TOPMed gnomAD
CA6371757 rs754563578	387	C>G		No	ClinGen ExAC gnomAD
CA6371756 rs746464941	387	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA6371754 rs758002456	388	G>E		No	ClinGen ExAC TOPMed gnomAD
rs557601610 CA6371755	388	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs750039153 CA6371753	389	E>G		No	ClinGen ExAC gnomAD
rs768779159 CA6371751	391	A>T		No	ClinGen ExAC TOPMed gnomAD
CA383521500 rs1565551681	392	M>T		No	ClinGen Ensembl
rs139459328 CA231301779	392	M>V		No	ClinGen 1000Genomes TOPMed
CA383521486 rs764545915	394	I>L		No	ClinGen ExAC TOPMed gnomAD
rs764545915 CA6371749	394	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6371747 rs775494293	397	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1213064077 CA383521457	398	Y>C		No	ClinGen gnomAD
COSM925171 CA383521430 rs767641201	402	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6371746 rs767641201	402	R>G		No	ClinGen ExAC gnomAD
rs200381354 CA6371744	402	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM925170 CA6371745 rs200381354	402	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1245025036	405	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371741 rs776729059	405	K>R		No	ClinGen ExAC TOPMed gnomAD
CA231301501 rs921358212	407	P>Q		No	ClinGen TOPMed gnomAD
CA383521386 rs1364705653	407	P>S		No	ClinGen TOPMed
CA383521378 rs1167957331	408	H>R		No	ClinGen gnomAD
rs1395245056 CA383521374	409	R>W		No	ClinGen gnomAD
rs775266067 CA6371718	411	F>L		No	ClinGen ExAC gnomAD
rs771650613 CA6371717	412	T>S		No	ClinGen ExAC TOPMed gnomAD
rs745330965 CA6371716	413	L>P		No	ClinGen ExAC gnomAD
CA383521338 rs1480547995	415	V>I		No	ClinGen gnomAD
rs778651677 CA383521331	416	V>F		No	ClinGen ExAC gnomAD
CA6371715 rs778651677	416	V>I		No	ClinGen ExAC gnomAD
rs770514835 CA6371714	418	A>V		No	ClinGen ExAC gnomAD
rs749661154 CA6371713	419	L>V		No	ClinGen ExAC gnomAD
CA6371709 rs570756475	429	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA383521236 rs1372460951	430	T>I		No	ClinGen gnomAD
CA6371707 rs751531868	432	S>C		No	ClinGen ExAC TOPMed gnomAD
rs751531868 CA231301400	432	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6371708 rs755104939	432	S>P		No	ClinGen ExAC gnomAD
CA383521229 rs755104939	432	S>T		No	ClinGen ExAC gnomAD
rs763333713 CA6371705	435	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	436	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371703 rs764027455 CA231301381	437	K>N		No	ClinGen ExAC TOPMed gnomAD
rs760354844 CA6371702	440	K>R		No	ClinGen ExAC TOPMed gnomAD
CA383521162 rs1484888966	441	H>Q		No	ClinGen TOPMed gnomAD
CA383521164 rs1160543199	441	H>R		No	ClinGen gnomAD
rs979239803 CA231301373	442	K>M		No	ClinGen Ensembl
CA383521132 rs1406340162	446	Q>*		No	ClinGen gnomAD
TCGA novel	449	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771858217 CA6371700	449	M>V		No	ClinGen ExAC gnomAD
CA383521097 rs1204650331	450	F>L		No	ClinGen TOPMed
TCGA novel	451	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759100577 CA6371699	452	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375155382 CA231301336	452	R>H		No	ClinGen ESP
CA383521050 rs1257126413	457	A>S		No	ClinGen gnomAD
CA231301330 rs867163348	457	A>V		No	ClinGen TOPMed gnomAD
rs558479114 CA6371697	459	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6371695 rs758684988	461	R>C		No	ClinGen ExAC gnomAD
CA383520999 rs1445743186	465	L>P		No	ClinGen TOPMed
CA383520957 rs146266771	471	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311966315 CA383520958	471	C>G		No	ClinGen gnomAD
CA6371692 rs146266771	471	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6371693 rs146266771	471	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6371691 rs755369448	473	E>Q		No	ClinGen ExAC
rs1452382206 CA383520929	476	V>F		No	ClinGen gnomAD
CA6371690 rs747542606	477	T>S		No	ClinGen ExAC gnomAD
CA6371689 rs780338426	478	S>R		No	ClinGen ExAC gnomAD
CA6371688 rs758529547	479	A>T		No	ClinGen ExAC gnomAD
rs1398377255 CA383520907	479	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6371686 rs201688313	480	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767495313 CA6371683	481	E>D		No	ClinGen ExAC gnomAD
rs752378992 CA6371684	481	E>K		No	ClinGen ExAC gnomAD
CA383520894 rs1484923902	482	S>G		No	ClinGen TOPMed gnomAD
rs1565551242 CA383520889	482	S>R		No	ClinGen Ensembl
CA6371682 rs550384689	483	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA383520878 rs1303572552	484	L>P		No	ClinGen gnomAD
rs1215485568 CA383520874	485	E>*		No	ClinGen gnomAD
CA6371680 rs765925598	489	N>S		No	ClinGen ExAC gnomAD
CA231300925 rs879107071	492	T>A		No	ClinGen TOPMed
rs772639923 CA6371657	492	T>M		No	ClinGen ExAC gnomAD
TCGA novel	497	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768941666 CA6371653	497	E>G		No	ClinGen ExAC TOPMed gnomAD
rs776324400 CA6371654	497	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	497	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383520775 rs1252342975	498	S>I		No	ClinGen gnomAD
rs375647489 CA231300873	499	H>Q		No	ClinGen ESP TOPMed gnomAD
rs747335577 CA6371652	500	P>R		No	ClinGen ExAC TOPMed gnomAD
rs201922355 CA231300852	502	T>I		No	ClinGen 1000Genomes
CA6371649 rs745948822	506	N>H		No	ClinGen ExAC gnomAD
CA6371648 rs779201904	507	S>L		No	ClinGen ExAC gnomAD
rs200724354 CA6371645	509	A>T		No	ClinGen ExAC TOPMed gnomAD
rs748362715 CA6371620	511	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA6371619 rs779877647	512	Y>C		No	ClinGen ExAC gnomAD
rs201051337 CA6371618	513	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6371617 rs750399154	513	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs756739528 CA6371615	517	S>C		No	ClinGen ExAC TOPMed gnomAD
rs756739528 CA6371616	517	S>F		No	ClinGen ExAC TOPMed gnomAD
CA383520643 rs1385637157	518	N>D		No	ClinGen gnomAD
CA6371613 rs760447336	519	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs548599881 CA6371612	519	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6371614 rs760447336	519	R>S		No	ClinGen ExAC TOPMed gnomAD
rs759951527 CA6371609	521	E>D		No	ClinGen ExAC gnomAD
rs768045090 CA6371610	521	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774756612 CA6371608	523	S>L		No	ClinGen ExAC gnomAD
rs1223446884 CA383520607	524	G>E		No	ClinGen TOPMed
CA231300478 rs1003907707	527	N>S		No	ClinGen TOPMed
rs1591854939 CA383520577	528	I>M		No	ClinGen Ensembl
CA383520579 rs1337511069	528	I>T		No	ClinGen gnomAD
rs771423635 CA6371606	528	I>V		No	ClinGen ExAC gnomAD
rs772382160 CA6371605	530	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6371602 rs142742245	535	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA383520525 rs1431619736	536	G>E		No	ClinGen gnomAD
CA383520523 rs1431619736	536	G>V		No	ClinGen gnomAD
CA383520513 rs1317629355	538	G>E		No	ClinGen gnomAD
rs747615404 CA6371574	540	R>G		No	ClinGen ExAC gnomAD
CA6371573 rs781008886	541	C>Y		No	ClinGen ExAC gnomAD
rs368015791 CA6371572	542	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs751153890 CA6371571	543	M>V		No	ClinGen ExAC gnomAD
CA6371570 rs375137225	547	R>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6371568 rs750970577	548	R>G		No	ClinGen ExAC gnomAD
CA231294607 rs932539577	552	D>A		No	ClinGen TOPMed gnomAD
rs765681975 CA6371567	556	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776624124 CA6371565	557	V>G		No	ClinGen ExAC gnomAD
rs767589818 CA6371539	566	V>L		No	ClinGen ExAC gnomAD
rs1328316593 CA383518957	567	S>N		No	ClinGen gnomAD
CA383518939 rs1402076302	568	I>V		No	ClinGen TOPMed
CA383518899 rs1346547398	569	L>F		No	ClinGen Ensembl
rs1027905602 CA231294233	570	K>T		No	ClinGen Ensembl
CA6371538 rs199812722	571	H>P		No	ClinGen ExAC TOPMed gnomAD
rs367871096 CA6371537	571	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA231294225 COSM1352750 rs1018933941	572	C>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1292274615 CA383518856	573	D>N		No	ClinGen gnomAD
CA383518837 rs1393834359	574	V>I		No	ClinGen gnomAD
rs761887540 CA6371535	577	M>V		No	ClinGen ExAC gnomAD
rs547719194 CA6371534	578	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs547719194 CA383518783	578	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1387038170 CA383518771	579	E>K		No	ClinGen gnomAD
CA383518751 rs1591848516	580	D>A		No	ClinGen Ensembl
rs1462274104 CA383518753	580	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA383518727 rs1215333381	581	L>R		No	ClinGen TOPMed
CA6371533 rs148362735	581	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263263593 CA383518691	583	I>F		No	ClinGen TOPMed
CA383518653 rs1489087829	585	Q>*		No	ClinGen TOPMed
CA383518633 rs1262530557	586	D>G		No	ClinGen gnomAD
CA383518643 rs1565545368	586	D>N		No	ClinGen Ensembl
rs779768094 CA6371531	588	C>R		No	ClinGen ExAC gnomAD
CA6371530 rs771557777	589	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA231294160 rs996493072	589	R>W		No	ClinGen TOPMed
rs1591848489 CA383518550	590	D>A		No	ClinGen Ensembl
CA6371528 rs779309143	590	D>Y		No	ClinGen ExAC gnomAD
rs1565545346 CA383518540	591	P>A		No	ClinGen Ensembl
rs754384381 CA6371526	592	A>T		No	ClinGen ExAC gnomAD
rs1308837348 CA383518490	593	V>A		No	ClinGen gnomAD
CA231294082 rs374338580	593	V>L		No	ClinGen ESP TOPMed gnomAD
rs756242873 CA6371524	595	V>A		No	ClinGen ExAC gnomAD
rs1363708099 CA383518442	596	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1158196203 CA383518445	596	R>W		No	ClinGen TOPMed
rs752665108 CA6371523	599	A>V		No	ClinGen ExAC gnomAD
rs755322724 CA6371521	604	T>S		No	ClinGen ExAC gnomAD
rs1361212142 CA383518285	605	E>*		No	ClinGen TOPMed
CA6371520 rs751806551	608	M>V		No	ClinGen ExAC gnomAD
CA6371504 rs373886995	611	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371505 rs200909482	611	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1376948909 CA383517680	612	R>G		No	ClinGen gnomAD
rs1349609395 CA383517673	612	R>S		No	ClinGen TOPMed
rs751859311 CA6371503	612	R>T		No	ClinGen ExAC gnomAD
rs766657825 CA6371502	613	C>S		No	ClinGen ExAC gnomAD
COSM466586 CA6371501 rs757129034	613	C>Y	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA383517654 rs1481833703	614	V>L		No	ClinGen gnomAD
CA383517657 rs1481833703	614	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA383517647 rs1281845760	615	Q>*		No	ClinGen gnomAD
CA383517643 rs1281845760	615	Q>K		No	ClinGen gnomAD
CA6371499 rs763945026	616	I>V		No	ClinGen ExAC gnomAD
CA383517599 rs1241681690	619	A>T		No	ClinGen gnomAD
CA6371495 rs759008281	620	W>C		No	ClinGen ExAC TOPMed gnomAD
CA6371496 rs767054997	620	W>G		No	ClinGen ExAC gnomAD
rs1377434267 CA383517568	621	L>F		No	ClinGen gnomAD
CA6371491 rs12292394	622	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6371492 rs12292394	622	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_053043 CA6371490 rs12292394	622	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6371493 rs201744292	622	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1468721465 CA383517560	623	G>R		No	ClinGen TOPMed
COSM541602 CA6371489 rs748639067	623	G>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA383517550 rs1455205641	624	V>M		No	ClinGen gnomAD
TCGA novel	624	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371484 rs147739086	626	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147739086 CA6371485	626	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs767394439 CA6371479	629	M>I		No	ClinGen ExAC gnomAD
CA6371478 rs759061614	630	D>E		No	ClinGen ExAC gnomAD
rs765872521 CA6371476	632	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6371475 rs762573708	634	T>A		No	ClinGen ExAC gnomAD
rs377633130 CA6371473	636	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs377633130 CA6371474	636	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762186472 CA383517448	636	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs762186472 CA6371472	636	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA383517425 rs1338762843	639	A>V		No	ClinGen TOPMed gnomAD
CA6371470 rs769217817	640	L>M		No	ClinGen ExAC gnomAD
CA6371469 rs747513160	641	E>Q		No	ClinGen ExAC gnomAD
CA231293029 rs922166187	644	D>H		No	ClinGen Ensembl
CA6371466 rs746117158	647	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6371467 rs746117158	647	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1446656171 CA383517365	649	Q>P		No	ClinGen TOPMed
CA383517353 rs779157360	651	I>F		No	ClinGen ExAC TOPMed gnomAD
rs779157360 CA6371464	651	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6371462 rs34393824	652	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199820759 CA6371461	652	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6371463 rs34393824	652	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1448113521 CA383517343	653	H>P		No	ClinGen gnomAD
rs754978480 CA6371460	655	S>G		No	ClinGen ExAC gnomAD
CA231292979 rs149893122	656	H>R		No	ClinGen ESP TOPMed
CA6371459 rs751488098	657	F>L		No	ClinGen ExAC gnomAD
CA231292970 rs936666357	659	S>P		No	ClinGen Ensembl
CA383517298 rs1337398890	659	S>Y		No	ClinGen TOPMed gnomAD
CA6371458 rs151013524 RCV000658630	661	D>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6371456 rs35935780	662	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35935780 RCV000884587 CA6371455	662	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383517274 rs1251371059	663	S>N		No	ClinGen TOPMed
CA383517265 rs1206573855	664	Q>R		No	ClinGen gnomAD
rs1342238900 CA383517259	665	V>F		No	ClinGen TOPMed gnomAD
TCGA novel	665	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	666	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383517238 rs1432720009	667	A>S		No	ClinGen gnomAD
rs1432720009 CA383517241	667	A>T		No	ClinGen gnomAD
TCGA novel	668	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383517210 rs1396395934	669	A>P		No	ClinGen gnomAD
rs1396395934 CA383517211	669	A>T		No	ClinGen gnomAD
CA6371452 rs769128076	669	A>V		No	ClinGen ExAC TOPMed gnomAD
CA383517196 rs1411131276	670	L>F		No	ClinGen gnomAD
CA383517168 rs1465581289	672	T>I		No	ClinGen TOPMed
rs1449522545 CA383517159	673	L>P		No	ClinGen gnomAD
CA383517164 rs1169167353	673	L>V		No	ClinGen gnomAD
rs1591847517 CA383517144	675	T>A		No	ClinGen Ensembl
CA6371447 rs369901277	677	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs748956519 CA6371446	680	E>G		No	ClinGen ExAC gnomAD
CA231292892 rs917078573	680	E>Q		No	ClinGen Ensembl
rs527411827 CA6371445	681	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1176817370 CA383517063	681	L>V		No	ClinGen Ensembl
COSM1507582 CA6371442 rs746992785	682	S>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA383517056 rs746992785	682	S>N		No	ClinGen ExAC gnomAD
CA6371443 rs559798557	682	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1176047203 CA383515824	682	S>R		No	ClinGen TOPMed
rs1193349001 CA383515822	683	R>*		No	ClinGen TOPMed gnomAD
rs763799820 CA6371411	683	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767757699 CA6371408	686	N>H		No	ClinGen ExAC gnomAD
CA383515754 rs1249831283	688	A>P		No	ClinGen TOPMed gnomAD
rs1048901325 CA231284264	689	F>C		No	ClinGen TOPMed gnomAD
rs1048901325 CA383515734	689	F>S		No	ClinGen TOPMed gnomAD
rs142158440 CA6371406	691	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371407 rs760153379	691	I>V		No	ClinGen ExAC gnomAD
CA383515629 rs1209350054	695	K>E		No	ClinGen gnomAD
CA383515596 rs1286122848	696	E>K		No	ClinGen gnomAD
rs1371417140 CA383515538	698	F>L		No	ClinGen TOPMed
CA383515486 rs762967450	701	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6371404 rs762967450	701	T>S		No	ClinGen ExAC TOPMed gnomAD
CA383515448 rs1416160298	703	I>V		No	ClinGen gnomAD
rs1348647172 CA383515419	705	N>H		No	ClinGen TOPMed
CA6371401 rs139987128	705	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs745868331 CA6371398	705	N>K		No	ClinGen ExAC TOPMed gnomAD
rs139987128 CA6371400	705	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139987128 CA6371399	705	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA383515334 rs1212035432	707	I>V		No	ClinGen TOPMed
CA383515226 rs1347423895	711	G>D		No	ClinGen gnomAD
rs1378949100 CA383515125	714	H>R		No	ClinGen TOPMed
rs144677005 COSM925162 CA6371392	715	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6371394 rs756267337	715	S>P		No	ClinGen ExAC TOPMed gnomAD
rs144677005 CA6371393	715	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA231284116 rs534357227	717	P>A		No	ClinGen 1000Genomes gnomAD
rs879186739 CA383515027	718	A>P		No	ClinGen gnomAD
rs879186739 CA383515022	718	A>S		No	ClinGen gnomAD
CA231284099 rs879186739	718	A>T		No	ClinGen gnomAD
rs781647807 CA6371391	720	M>V		No	ClinGen ExAC gnomAD
CA6371390 rs755273138	721	L>P		No	ClinGen ExAC gnomAD
rs138788756 CA6371389	722	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395018548 CA383514816	724	K>R		No	ClinGen TOPMed
rs750563766 CA383514763	726	A>S		No	ClinGen ExAC gnomAD
rs750563766 CA6371386	726	A>T		No	ClinGen ExAC gnomAD
CA231284069 rs1024190632	728	S>F		No	ClinGen Ensembl
CA383514722 rs1321877016	728	S>P		No	ClinGen gnomAD
CA383514693 rs1335054180	730	P>S		No	ClinGen TOPMed
CA6371384 RCV000898147 rs61744119	731	R>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776696181 CA6371383	732	L>M		No	ClinGen ExAC TOPMed gnomAD
CA383514638 rs1398255238	732	L>P		No	ClinGen gnomAD
CA383514611 rs1170569943	733	D>G		No	ClinGen TOPMed gnomAD
rs1434917189 CA383514590	734	Y>H		No	ClinGen gnomAD
rs888686998 CA231284031	736	R>T		No	ClinGen Ensembl
rs1047079560 CA231284027	738	I>V		No	ClinGen Ensembl
rs1426136820 CA383514433	740	S>C		No	ClinGen gnomAD
CA231284024 rs200676897	742	E>G		No	ClinGen TOPMed
CA6371380 rs774349905	744	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6371379 rs770933560	745	S>T		No	ClinGen ExAC TOPMed gnomAD
CA6371378 rs374452059	746	S>G		No	ClinGen ESP ExAC gnomAD
CA383514194 rs1369198375	747	Q>*		No	ClinGen TOPMed
rs1258252729 CA383514184	747	Q>L		No	ClinGen gnomAD
CA6371360 rs759387582	748	Q>*		No	ClinGen ExAC gnomAD
rs764503025 CA231283744	749	N>D		No	ClinGen Ensembl
rs774070919 CA6371359	751	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	752	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371356 rs147103021	754	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147103021 CA6371357	754	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs747566194 CA6371354	756	G>E		No	ClinGen ExAC gnomAD
rs1485964379 CA383514075	757	H>R		No	ClinGen TOPMed
CA6371353 rs776363092	758	I>T		No	ClinGen ExAC TOPMed gnomAD
rs746671906 CA6371351	760	C>F		No	ClinGen ExAC gnomAD
rs367626931 CA6371350	762	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1355860432 CA383514012	763	G>E		No	ClinGen TOPMed gnomAD
CA231283658 rs952690461	763	G>R		No	ClinGen TOPMed
rs1196428907 CA383513999	764	H>R		No	ClinGen TOPMed gnomAD
CA6371348 rs746398298	765	I>T		No	ClinGen ExAC gnomAD
CA6371349 rs758742436	765	I>V		No	ClinGen ExAC gnomAD
rs753246715 CA6371345	770	P>L		No	ClinGen ExAC gnomAD
TCGA novel	772	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs563060348 CA6371344	773	T>S		No	ClinGen ExAC gnomAD
rs981764004 CA231283581	774	R>Q		No	ClinGen gnomAD
rs534584578 CA6371342	774	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6371341 rs752931368	775	D>H		No	ClinGen ExAC TOPMed gnomAD
CA383513840 rs752931368	775	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1287934716 CA383513815	776	K>R		No	ClinGen gnomAD
CA383513537 rs1219337549	780	A>D		No	ClinGen TOPMed gnomAD
CA383513503 rs761699157	781	V>A		No	ClinGen ExAC gnomAD
rs761699157 CA6371310	781	V>D		No	ClinGen ExAC gnomAD
rs1191046972 CA383513482	782	K>R		No	ClinGen gnomAD
CA231283181 rs760186916	783	C>Y		No	ClinGen gnomAD
CA383513385 rs1453586800	787	G>E		No	ClinGen gnomAD
CA231283165 rs201548932	789	Q>R		No	ClinGen Ensembl
rs867308167 CA231283163	790	W>L		No	ClinGen TOPMed
TCGA novel	796	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	797	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248444493 CA383513132	799	V>A		No	ClinGen gnomAD
rs377523013 CA6371306	799	V>L		No	ClinGen ESP ExAC gnomAD
rs759175654 COSM204320 CA6371304	801	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA231283144 rs200700272	802	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA383513047 rs1452732782	804	R>W		No	ClinGen TOPMed
CA383512991 rs1323805585	806	C>F		No	ClinGen gnomAD
CA383512994 rs1323805585	806	C>Y		No	ClinGen gnomAD
CA6371300 COSM1676603 rs778291655	808	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6371299 rs769792963	808	A>V		No	ClinGen ExAC gnomAD
CA383512883 rs781574921	813	P>A		No	ClinGen ExAC TOPMed gnomAD
CA383512861 rs1591841750	813	P>L		No	ClinGen Ensembl
CA6371297 rs781574921 COSM1352748	813	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA383512839 rs755321133	815	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6371296 rs755321133	815	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs145502100 CA231283070	816	E>G		No	ClinGen ESP
rs778624593 CA6371294	816	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778624593 CA6371295	816	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1167069570 CA383512102	818	E>D		No	ClinGen gnomAD
CA383512108 rs1281748175	818	E>G		No	ClinGen TOPMed
rs199957638 CA6371265	820	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs372672380 CA6371264	821	T>A		No	ClinGen ESP ExAC gnomAD
rs527984980 CA6371263	821	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372672380 CA383512063	821	T>S		No	ClinGen ESP ExAC gnomAD
rs1485368035 CA383512025	823	V>A		No	ClinGen TOPMed gnomAD
rs1485368035 CA383512023	823	V>G		No	ClinGen TOPMed gnomAD
CA383512033 rs765670049 CA383512031	823	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765670049 CA6371260	823	V>M		No	ClinGen ExAC TOPMed gnomAD
CA383512003 rs1223217656	824	C>S		No	ClinGen gnomAD
CA383511982 rs1297179938	825	G>E		No	ClinGen TOPMed gnomAD
rs1043974174 CA231279452	826	D>E		No	ClinGen Ensembl
CA383511964 rs1313666439	826	D>Y		No	ClinGen gnomAD
CA231279449 rs1011988899	827	V>A		No	ClinGen TOPMed gnomAD
rs1244432639 CA383511943	827	V>I		No	ClinGen gnomAD
CA383511925 rs1434800279	828	L>V		No	ClinGen gnomAD
rs775591129 CA6371255	830	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1458550424 CA383511880	830	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775591129 CA383511889	830	T>P		No	ClinGen ExAC TOPMed gnomAD
CA383511870 rs1398981392	831	C>G		No	ClinGen TOPMed
rs780908911 CA6371252 COSM2090169	832	E>K	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6371251 rs755879786	833	H>L		No	ClinGen ExAC gnomAD
rs868209407 CA231279405	833	H>Y		No	ClinGen gnomAD
CA231279396 rs913854332	834	R>C		No	ClinGen TOPMed gnomAD
CA6371250 rs748105038	834	R>H		No	ClinGen ExAC TOPMed gnomAD
rs901837623 CA231279371	837	N>D		No	ClinGen TOPMed
CA231279362 rs939424122	837	N>S		No	ClinGen Ensembl
CA6371248 rs372192269	838	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6371247 rs765789751	839	V>I		No	ClinGen ExAC TOPMed gnomAD
rs765789751 CA6371246	839	V>L		No	ClinGen ExAC TOPMed gnomAD
CA383511714 rs1413785588	841	K>E		No	ClinGen gnomAD
rs750025141 CA6371244	841	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6371243 rs765721340	842	E>K		No	ClinGen ExAC gnomAD
CA383511689 rs1290782422	843	N>D		No	ClinGen TOPMed
CA6371242 rs369990889 CA383511624	846	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA231279282 rs1053515374	846	G>V		No	ClinGen TOPMed
CA231279278 rs909145396	848	M>V		No	ClinGen TOPMed gnomAD
rs764640348 CA383511494	850	E>*		No	ClinGen ExAC gnomAD
rs764640348 CA6371240	850	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA231279250 CA383511454 rs950414925	851	D>E		No	ClinGen TOPMed gnomAD
rs376383218 CA6371239	853	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	854	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767655140 CA6371218	856	Y>C		No	ClinGen ExAC gnomAD
CA383510839 rs1258832181	856	Y>H		No	ClinGen TOPMed gnomAD
CA6371216 rs774557497	857	I>F		No	ClinGen ExAC gnomAD
CA6371215 rs771081156	861	G>E		No	ClinGen ExAC gnomAD
CA231276889 rs35310602	861	G>R		No	ClinGen Ensembl
rs140973700 CA6371213	862	D>G		No	ClinGen ESP ExAC gnomAD
rs1279062524 CA383510717	862	D>N		No	ClinGen TOPMed gnomAD
CA383510682 rs1333953107	863	I>T		No	ClinGen gnomAD
CA6371212 rs768316396	864	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	865	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA231276834 rs944096016	866	L>P		No	ClinGen TOPMed
CA383510607 rs1565535759	867	C>G		No	ClinGen Ensembl
CA383510590 rs1350607148	868	P>R		No	ClinGen TOPMed
CA383510592 rs1453208361	868	P>S		No	ClinGen gnomAD
CA383510560 rs1206187034	869	A>G		No	ClinGen TOPMed
CA6371211 rs746991297	871	V>L		No	ClinGen ExAC gnomAD
CA6371210 rs528521155	872	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6371209 rs771619777	873	K>R		No	ClinGen ExAC TOPMed gnomAD
CA231276813 rs770611725	874	R>C		No	ClinGen TOPMed
CA6371208 rs146518105	874	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA383510367 rs1157524938	875	I>L		No	ClinGen gnomAD
rs1157524938 CA383510369	875	I>V		No	ClinGen gnomAD
rs1370760200 CA383510354	876	F>S		No	ClinGen TOPMed gnomAD
CA383510357 rs1468152184	876	F>V		No	ClinGen gnomAD
rs144174471 CA6371207	877	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA231276781 rs867182331	881	S>F		No	ClinGen gnomAD
rs199574533 CA6371204	882	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1283792883 CA383510274	884	A>S		No	ClinGen gnomAD
CA6371202 rs139400293	884	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA231276754 rs978695921	885	S>L		No	ClinGen TOPMed gnomAD
CA383510259 rs1266035779	887	A>P		No	ClinGen gnomAD
CA6371200 rs759671475	888	D>E		No	ClinGen ExAC gnomAD
rs912871234 CA231276736	888	D>V		No	ClinGen TOPMed gnomAD
CA383510236 rs1307562464	889	A>V		No	ClinGen TOPMed
rs751692632 CA6371198	890	D>V		No	ClinGen ExAC gnomAD
TCGA novel	891	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759597486 CA6371170	895	S>C		No	ClinGen ExAC gnomAD
rs774381145 CA6371169	896	Q>E		No	ClinGen ExAC gnomAD
CA231276438 rs142260444	900	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs770594287 CA6371168	901	A>T		No	ClinGen ExAC TOPMed gnomAD
CA383510059 rs1198872574	901	A>V		No	ClinGen gnomAD
CA6371167 rs553657594	902	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383510045 rs553657594	902	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1207215795 CA383510029	903	A>P		No	ClinGen gnomAD
CA6371165 rs766334892	903	A>V		No	ClinGen ExAC TOPMed gnomAD
CA383509999 rs1591838271	905	Q>K		No	ClinGen Ensembl
rs1015790075 CA231276378	905	Q>R		No	ClinGen Ensembl
rs201225237 CA6371162	906	P>L		No	ClinGen ExAC TOPMed gnomAD
CA383509973 rs1212565430	906	P>S		No	ClinGen gnomAD
CA6371159 rs758490296	907	P>L		No	ClinGen ExAC gnomAD
CA6371161 rs34739733	907	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000898146 VAR_053044 CA6371160 rs34739733	907	P>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765355523 CA6371158	908	P>A		No	ClinGen ExAC TOPMed gnomAD
CA231276271 rs144266761	908	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371156 rs144266761	908	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371155 rs144266761	908	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs765355523 CA6371157	908	P>T		No	ClinGen ExAC TOPMed gnomAD
rs138442478 CA6371153	909	Q>K		No	ClinGen ESP ExAC gnomAD
rs770284236	909	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs770284236	909	Q>R	Variant assessed as Somatic; 4.801e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA231276240 rs997094805	910	V>F		No	ClinGen Ensembl
rs766360496 CA6371150	911	R>T		No	ClinGen ExAC gnomAD
CA383509882 rs1479541042	912	G>D		No	ClinGen gnomAD
CA383509847 rs1480948037	914	V>L		No	ClinGen gnomAD
CA383509815 rs1202268440	915	M>I		No	ClinGen TOPMed gnomAD
rs372826405 CA231276184	915	M>V		No	ClinGen ESP gnomAD
rs769313260 CA6371147	916	P>S		No	ClinGen ExAC gnomAD
rs1043297020 CA231276174	917	S>C		No	ClinGen TOPMed gnomAD
CA6371143 rs747321464	920	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6371142 rs569777875	922	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1223821347 CA383509719	922	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	923	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371141 rs370562150	925	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263505628 CA383508615	929	K>E		No	ClinGen gnomAD
TCGA novel	930	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	931	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6371120 rs770703712	935	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	936	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA231274943 rs917517142	936	D>N		No	ClinGen gnomAD
CA383508433 rs917517142	936	D>Y		No	ClinGen gnomAD
rs1360852283 CA383508375	938	A>T		No	ClinGen gnomAD
rs143359995 CA6371119	939	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA231274930 rs958704611	940	K>N		No	ClinGen TOPMed
rs138937004 CA6371118	941	S>N		No	ClinGen ESP ExAC gnomAD
CA383508248 rs1309635340	943	P>A		No	ClinGen TOPMed gnomAD
rs1034303089 CA231274924	943	P>L		No	ClinGen TOPMed
rs777986824 CA6371117	944	A>S		No	ClinGen ExAC gnomAD
rs1360101254 CA383508134	947	R>*		No	ClinGen gnomAD
rs1323541580 CA383508129	947	R>Q		No	ClinGen TOPMed
TCGA novel	948	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383508057 COSM1352745 rs1437018562	950	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA383508055 rs1437018562	950	E>Q		No	ClinGen TOPMed
rs780041397 CA6371114	951	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6371115 rs752932392	951	V>L		No	ClinGen ExAC gnomAD
CA383508022 rs752932392	951	V>M		No	ClinGen ExAC gnomAD
TCGA novel	952	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758160251 CA6371113	952	C>Y		No	ClinGen ExAC gnomAD
rs1223101676 CA383507935	954	D>Y		No	ClinGen TOPMed
rs765167360 CA383507914	955	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6371111 rs765167360 COSM3687029	955	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761646249 CA6371110	956	A>T		No	ClinGen ExAC gnomAD
CA383507878 rs1271577879	958	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6371109 rs753417052 COSM1352744	958	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs760369743 CA383507806	960	N>I		No	ClinGen ExAC gnomAD
CA6371107 rs760369743	960	N>S		No	ClinGen ExAC gnomAD
rs200082998 CA6371105	961	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371104 rs760037698	962	I>V		No	ClinGen ExAC gnomAD
rs148224417 CA6371103	963	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	965	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364515708 CA383507697	965	M>V		No	ClinGen TOPMed gnomAD
rs1227131008 CA383507672	966	C>R		No	ClinGen gnomAD
CA6371101 rs749754161	967	D>N		No	ClinGen ExAC gnomAD
CA383507582 rs1591837470	969	C>Y		No	ClinGen Ensembl
CA383507567 rs1473292917	970	I>V		No	ClinGen TOPMed
rs140900576 CA6371100	971	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs769967939 CA6371099	971	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA231274819 rs933766710	972	Y>*		No	ClinGen TOPMed gnomAD
rs200832501 CA6371098	974	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298585150 CA383507411	975	M>I		No	ClinGen gnomAD
rs781521911 CA6371097	975	M>K		No	ClinGen ExAC gnomAD
rs781521911 CA383507421	975	M>T		No	ClinGen ExAC gnomAD
rs1352467188 CA383507347	978	K>R		No	ClinGen gnomAD
CA383507327 rs1480525654	980	I>V		No	ClinGen gnomAD
rs1325330461 CA383507314	981	P>S		No	ClinGen TOPMed
CA6371096 rs758143340	982	N>S		No	ClinGen ExAC TOPMed gnomAD
CA383507279 rs745737389	984	S>C		No	ClinGen ExAC gnomAD
rs745737389 CA6371095	984	S>Y		No	ClinGen ExAC gnomAD
CA383507272 rs1251857636	985	M>L		No	ClinGen gnomAD
rs140434135 CA6371093	985	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6371092 rs753753554	986	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1323045220 CA383507243	987	L>P		No	ClinGen gnomAD
rs1565534511 CA383507223	989	D>A		No	ClinGen Ensembl
CA6371091 rs763617495	989	D>N		No	ClinGen ExAC gnomAD
rs1039352798 CA231274747	991	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA383507202 rs1039352798	991	D>Y		No	ClinGen gnomAD
CA383507170 rs1390680207	994	I>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA383507166 rs1390680207	994	I>L		No	ClinGen TOPMed gnomAD
rs935776685 CA231274733	995	R>Q		No	ClinGen TOPMed
CA6371087 rs759095377	997	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA383507111 rs1404857564	999	L>F		No	ClinGen gnomAD
CA383507106 rs572097232	1000	I>L		No	ClinGen 1000Genomes TOPMed
rs774844344 CA6371084	1000	I>T		No	ClinGen ExAC gnomAD
CA231274716 rs572097232	1000	I>V		No	ClinGen 1000Genomes TOPMed
rs766621980 CA6371083	1003	T>N		No	ClinGen ExAC gnomAD
CA6371082 rs763561623	1004	N>D		No	ClinGen ExAC TOPMed gnomAD
rs773802954 CA6371081	1004	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6371080 rs770022851	1005	L>F		No	ClinGen ExAC gnomAD
CA383507039 rs904284730	1006	L>F		No	ClinGen gnomAD
rs1169964228 CA383506842	1009	E>K		No	ClinGen gnomAD
TCGA novel	1009	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383506763 rs1372693827	1013	W>*		No	ClinGen gnomAD
rs1191190391 CA383506738	1014	K>R		No	ClinGen TOPMed gnomAD
CA231273598 rs139669316	1016	S>A		No	ClinGen ESP TOPMed gnomAD
rs139669316 CA383506705	1016	S>T		No	ClinGen ESP TOPMed gnomAD
CA6371051 COSM925154 rs769789227	1020	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA231273573 rs923626843	1021	F>L		No	ClinGen TOPMed gnomAD
CA231273575 rs936320619	1021	F>Y		No	ClinGen TOPMed gnomAD
CA383506535 rs1339731141	1023	S>R		No	ClinGen gnomAD
CA383506525 rs1269223907	1024	T>A		No	ClinGen gnomAD
CA6371048 rs754393329	1027	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA383506430 rs1442459019	1028	S>*		No	ClinGen TOPMed
rs372320106 CA6371045	1031	D>G		No	ClinGen ExAC gnomAD
rs151063353 CA6371046	1031	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs145499956 CA6371044	1032	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188962387 CA383506348	1033	A>P		No	ClinGen TOPMed
VAR_053045 RCV000965227 CA6371016 rs7927108	1034	S>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1044649107 CA231263094	1036	G>R		No	ClinGen TOPMed gnomAD
CA383504134 rs1320334243	1041	A>D		No	ClinGen TOPMed gnomAD
CA383504140 rs1383888062	1041	A>T		No	ClinGen TOPMed gnomAD
CA6371012 rs552003634	1043	L>V		No	ClinGen ExAC gnomAD
CA383503985 CA6371011 rs143188183	1048	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771659261 CA6371008	1049	P>L		No	ClinGen ExAC gnomAD
CA383503963 rs771659261	1049	P>R		No	ClinGen ExAC gnomAD
CA6371010 rs192889859	1049	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6371009 rs192889859	1049	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs529695525 CA6371004 CA6371005	1051	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1466215187 CA6371006	1051	M>V		No	ClinGen TOPMed
rs1446220584 CA383503874	1053	F>L		No	ClinGen gnomAD
rs778193593 CA6371001	1055	H>R		No	ClinGen ExAC gnomAD
CA6370999 rs374376449	1056	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383503810 rs1243390138	1056	F>V		No	ClinGen TOPMed gnomAD
rs567249680 CA231262977	1057	I>V		No	ClinGen Ensembl
CA383503744 rs1353694247	1058	E>G		No	ClinGen TOPMed gnomAD
CA383503759 rs1341603697	1058	E>Q		No	ClinGen TOPMed
CA6370997 rs755011107	1062	H>P		No	ClinGen ExAC gnomAD
rs767602750 CA6370998	1062	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6370996 rs751784629	1063	F>L		No	ClinGen ExAC gnomAD
rs1210345906 CA383503550	1065	N>S		No	ClinGen TOPMed
rs1289567537 CA383503506	1067	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6370993 rs776331927	1069	H>R		No	ClinGen ExAC gnomAD
rs1263835118 CA383503450	1069	H>Y		No	ClinGen TOPMed
CA231262899 rs543652363	1071	K>N		No	ClinGen Ensembl
CA6370991 rs376021103	1071	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427256255 CA383503371	1073	N>H		No	ClinGen TOPMed
CA231262875 rs781258004 CA231262893	1073	N>K		No	ClinGen TOPMed gnomAD
rs752960875 CA231262847	1074	K>N		No	ClinGen ExAC TOPMed
rs771716391 CA383503304	1075	F>S		No	ClinGen ExAC gnomAD
rs771716391 CA6370988	1075	F>Y		No	ClinGen ExAC gnomAD
rs1241996901 CA383503261	1076	P>H		No	ClinGen gnomAD
CA231262816 rs111660664	1076	P>S		No	ClinGen ExAC gnomAD
CA6370986 rs111660664	1076	P>T		No	ClinGen ExAC gnomAD
rs138414402 CA6370983 COSM383817 CA6370984	1077	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1462645370 CA383503241	1077	Q>L		No	ClinGen gnomAD
TCGA novel	1077	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6370946 rs769543926	1081	E>D		No	ClinGen ExAC gnomAD
rs761450106 CA6370945	1082	K>*		No	ClinGen ExAC gnomAD
rs946168315 CA383502980	1082	K>N		No	ClinGen gnomAD
CA6370943 rs768961143	1083	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200242569 CA6370944	1083	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA231262100 rs76594506	1085	F>C		No	ClinGen Ensembl
rs80316248 CA6370940	1085	F>V		No	ClinGen ExAC gnomAD
rs369076157 CA6370937	1091	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759303536	1093	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs569910277 CA6370936	1093	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383502734 rs1565528187	1094	E>Q		No	ClinGen Ensembl
CA6370933 rs754087504	1096	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1379431221 CA383502659	1097	M>V		No	ClinGen TOPMed
rs376862903 CA6370930	1098	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs766281455 CA6370928	1101	K>E		No	ClinGen ExAC TOPMed gnomAD
CA383502542 rs766281455	1101	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA6370927 rs142491773	1101	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1101	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371658223 CA6370926	1102	F>L		No	ClinGen ESP ExAC gnomAD
CA6370925 rs137924264	1103	L>F		No	ClinGen ESP ExAC gnomAD
rs1206948664 CA383502469	1105	E>K		No	ClinGen gnomAD
CA6370923 rs776227116	1107	F>L		No	ClinGen ExAC gnomAD
CA383502409 rs1315791956	1107	F>L		No	ClinGen gnomAD
rs764447865 CA6370922	1108	T>A		No	ClinGen ExAC TOPMed gnomAD
CA383502395 rs1316828305	1108	T>I		No	ClinGen gnomAD
CA383502332 rs1248311088	1111	Q>*		No	ClinGen TOPMed gnomAD
rs772706645 CA6370919	1112	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6370920 rs772706645	1112	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA383502267 CA383502264 rs1360537017	1113	F>L		No	ClinGen gnomAD
rs375953580 CA6370918	1113	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs567450574 CA6370917	1114	N>S		No	ClinGen ExAC TOPMed gnomAD
rs567450574 CA6370916	1114	N>T		No	ClinGen ExAC TOPMed gnomAD
rs778069813 CA383502232	1115	I>F		No	ClinGen ExAC TOPMed gnomAD
rs778069813 CA383502237	1115	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6370914 rs778069813	1115	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1164166513 CA383502214	1116	T>S		No	ClinGen gnomAD
CA6370913 rs754829514	1119	I>T		No	ClinGen ExAC gnomAD
CA383502125 rs1195502916	1121	L>R		No	ClinGen TOPMed gnomAD
rs750304346 CA6370910	1123	I>S		No	ClinGen ExAC TOPMed gnomAD
rs750304346 CA6370909	1123	I>T		No	ClinGen ExAC TOPMed gnomAD
rs779709284 CA6370911	1123	I>V		No	ClinGen ExAC gnomAD
CA383502070 rs962933470 CA231261797	1124	L>F		No	ClinGen TOPMed gnomAD
CA6370908 rs764759940	1125	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6370857 rs763601693	1125	A>V		No	ClinGen ExAC gnomAD
rs1366549230 CA383500696	1126	C>S		No	ClinGen TOPMed
rs761743955 CA6370854	1126	C>W		No	ClinGen ExAC gnomAD
CA383500652 rs1219415462	1128	A>T		No	ClinGen TOPMed
CA383500629 rs1156579318	1129	D>G		No	ClinGen gnomAD
rs577586406 CA231261357	1129	D>N		No	ClinGen TOPMed gnomAD
CA231261340 rs766927270	1132	L>V		No	ClinGen Ensembl
CA6370852 rs371959012	1133	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273413740 CA383500565	1133	P>S		No	ClinGen gnomAD
rs1218025771 CA383500493	1138	A>T		No	ClinGen gnomAD
CA383500416 rs777617520	1141	L>F		No	ClinGen ExAC gnomAD
TCGA novel	1143	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769357991 CA6370846	1144	D>N		No	ClinGen ExAC gnomAD
rs780746091 CA383500361	1145	T>K		No	ClinGen ExAC TOPMed gnomAD
rs780746091 CA6370844	1145	T>M		No	ClinGen ExAC TOPMed gnomAD
rs373981479 CA6370842	1148	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1020922076 CA383500262	1150	S>R		No	ClinGen TOPMed gnomAD
CA383500252 rs1296176095	1151	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1350194762 CA383500225	1153	E>G		No	ClinGen TOPMed gnomAD
CA6370837 rs200428556	1154	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1426167879 CA383500213	1154	I>V		No	ClinGen TOPMed gnomAD
rs1565527627 CA383500192	1155	K>R		No	ClinGen Ensembl
rs761147428 CA231261164	1156	L>F		No	ClinGen Ensembl
CA383500172 rs1591830382	1156	L>P		No	ClinGen Ensembl
CA6370836 rs753908143	1158	A>T		No	ClinGen ExAC gnomAD
CA231261150 rs1035801266	1159	M>I		No	ClinGen Ensembl
CA6370834 rs760911351	1159	M>R		No	ClinGen ExAC TOPMed gnomAD
CA383500122 rs760911351	1159	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6370835 rs370902265	1159	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775653410 CA6370833	1160	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6370832 rs766164588	1160	R>S		No	ClinGen ExAC gnomAD
rs1193359821 CA383500073	1161	S>P		No	ClinGen gnomAD
rs151223701 CA6370831	1163	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370830 rs143158496	1163	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219678496 CA383499993	1164	D>E		No	ClinGen gnomAD
CA383500013 rs1222316020	1164	D>H		No	ClinGen TOPMed
CA383499976 rs1479958127	1165	K>R		No	ClinGen gnomAD
rs776053317 CA6370826	1166	D>E		No	ClinGen ExAC gnomAD
CA6370828 rs769683892	1166	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768231082 CA6370825	1167	L>P		No	ClinGen ExAC gnomAD
CA6370824 rs746689480	1168	L>F		No	ClinGen ExAC gnomAD
rs1388396391 CA383499866	1169	M>I		No	ClinGen gnomAD
rs1293368425 CA383499875	1169	M>T		No	ClinGen gnomAD
rs779796316 CA6370823	1170	E>D		No	ClinGen ExAC gnomAD
CA6370821 rs746301403	1171	E>D		No	ClinGen ExAC gnomAD
rs758112068 CA6370822	1171	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1172	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402010920 CA383499794	1172	D>V		No	ClinGen gnomAD
rs1178485778 CA383499769	1173	D>G		No	ClinGen TOPMed
CA383499752 rs1420758479	1174	M>K		No	ClinGen TOPMed gnomAD
CA6370819 rs779306612	1174	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6370818 rs757756935	1175	A>S		No	ClinGen ExAC TOPMed gnomAD
rs376124629 CA6370817	1175	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1046961121 CA231261022	1177	A>G		No	ClinGen TOPMed gnomAD
rs1046961121 CA231261020	1177	A>V		No	ClinGen TOPMed gnomAD
CA6370814 rs752927657	1180	V>F		No	ClinGen ExAC gnomAD
rs759748010 CA6370811	1181	M>I		No	ClinGen ExAC gnomAD
rs767780682 CA6370812	1181	M>T		No	ClinGen ExAC gnomAD
CA231260947 rs977012379	1185	Q>R		No	ClinGen TOPMed
rs761676682 CA6370808	1186	K>N		No	ClinGen ExAC TOPMed gnomAD
rs768284623 CA6370806	1187	K>M		No	ClinGen ExAC gnomAD
rs776590436 CA6370807	1187	K>Q		No	ClinGen ExAC gnomAD
rs1331622687 CA383499388	1189	I>L		No	ClinGen gnomAD
rs976361020 CA231260922	1190	S>*		No	ClinGen Ensembl
CA6370804 rs775135510	1191	Q>K		No	ClinGen ExAC gnomAD
CA383496785 rs1294343153	1193	Q>*		No	ClinGen TOPMed gnomAD
CA383496787 rs1294343153	1193	Q>E		No	ClinGen TOPMed gnomAD
CA6370757 rs770679536	1195	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1478793242 CA383496753	1195	R>S		No	ClinGen gnomAD
CA383496732 rs1263808295	1197	F>S		No	ClinGen gnomAD
CA6370755 CA383496722 rs770093886	1198	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6370754 rs770093886	1198	I>V		No	ClinGen ExAC TOPMed gnomAD
CA231251167 rs925023911	1200	N>S		No	ClinGen TOPMed
CA383496694 rs925023911	1200	N>T		No	ClinGen TOPMed
CA6370753 rs748683500	1201	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1210107283 CA383496681	1201	I>T		No	ClinGen gnomAD
rs748683500 CA383496685	1201	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383496652 rs377410057	1204	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377410057 CA6370751	1204	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1278139921 CA383496630	1206	I>F		No	ClinGen gnomAD
CA6370748 rs779966895	1208	L>Q		No	ClinGen ExAC gnomAD
rs1565519699 CA383496593	1209	K>M		No	ClinGen Ensembl
TCGA novel	1209	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746040448 CA383496582	1210	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6370746 rs746040448	1210	T>S		No	ClinGen ExAC TOPMed gnomAD
rs372837551 CA6370744	1211	V>A		No	ClinGen ESP ExAC gnomAD
rs777745472 CA6370745	1211	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752699495 CA6370743	1214	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1248294857 CA383496515	1216	K>R		No	ClinGen TOPMed gnomAD
CA231251078 rs992356548	1218	P>A		No	ClinGen TOPMed gnomAD
CA383496493 rs1450749968	1218	P>Q		No	ClinGen gnomAD
rs992356548 CA383496496	1218	P>T		No	ClinGen TOPMed gnomAD
rs751116530 CA6370740	1221	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754863590 CA6370741	1221	R>W		No	ClinGen ExAC TOPMed gnomAD
rs960929446 CA231251067 RCV000658629	1222	E>K		No	ClinGen ClinVar TOPMed dbSNP
CA383496443 rs1213365366	1223	L>F		No	ClinGen TOPMed gnomAD
rs1461740085 CA383496430	1224	M>R		No	ClinGen TOPMed
rs369553714 CA6370738	1224	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370737 rs765588158	1225	H>L		No	ClinGen ExAC TOPMed gnomAD
CA6370736 rs765588158	1225	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1275866408 CA383496421	1225	H>Y		No	ClinGen gnomAD
rs1369149011 CA383496407	1226	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA231251045 rs952147307	1227	L>I		No	ClinGen TOPMed gnomAD
COSM1197160 rs952147307 CA383496398	1227	L>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6370711 rs563848192	1231	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6370709 rs771315456	1232	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs759751865 CA383495668	1232	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA6370710 rs759751865	1232	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6370706 rs781060765	1233	D>E		No	ClinGen ExAC TOPMed gnomAD
rs369723122 CA6370707	1233	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA383495662 rs369723122	1233	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs768293518 CA6370705 COSM1216789	1235	R>*	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6370704 rs375438498	1235	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1413938766 CA383495612	1236	D>N		No	ClinGen gnomAD
CA383495597 rs1163565372	1236	D>V		No	ClinGen gnomAD
CA231248836 rs927086157	1237	E>Q		No	ClinGen TOPMed
CA231248824 rs973348428	1238	L>F		No	ClinGen Ensembl
CA6370702 rs368317655	1242	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383495493 rs1229350639	1243	A>T		No	ClinGen TOPMed
CA383495438 rs868317026	1245	D>E		No	ClinGen gnomAD
CA383495430 rs1224112698	1246	K>E		No	ClinGen gnomAD
rs778372675 CA6370700	1246	K>N		No	ClinGen ExAC gnomAD
CA231248790 rs991995164	1248	L>V		No	ClinGen TOPMed gnomAD
rs1231520595 CA383495366	1249	A>V		No	ClinGen gnomAD
COSM1475275 rs201766156 CA6370699	1253	E>Q	Variant assessed as Somatic; 0.0007397 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA231248766 rs962856350	1256	M>I		No	ClinGen TOPMed gnomAD
CA383495238 rs1361049855	1256	M>K		No	ClinGen gnomAD
CA6370696 rs145217895	1260	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1459426659 CA383495130	1262	Q>*		No	ClinGen gnomAD
rs1425093919 CA383495120	1262	Q>H		No	ClinGen gnomAD
rs760893223 CA6370695	1264	V>I		No	ClinGen ExAC gnomAD
rs753095081 CA6370694	1265	Q>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1266	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383495023 rs768208893	1267	Q>H		No	ClinGen ExAC gnomAD
rs1317006402 CA383495018	1268	E>Q		No	ClinGen gnomAD
CA383494996 rs1591821098	1269	L>R		No	ClinGen Ensembl
rs760084596 CA6370692	1269	L>V		No	ClinGen ExAC gnomAD
rs774618413 CA6370691	1272	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA383494916 rs1211992322	1274	D>N		No	ClinGen gnomAD
CA383494901 rs1555125531	1274	D>V		No	ClinGen Ensembl
CA231248746 rs954466967	1275	V>G		No	ClinGen gnomAD
CA6370688 CA6370689 rs141547598	1277	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768508500 CA6370687	1278	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1306825198 CA383494849	1278	T>S		No	ClinGen gnomAD
rs1324830971 CA383494840	1279	A>G		No	ClinGen TOPMed gnomAD
CA6370685 rs779894744	1279	A>S		No	ClinGen ExAC TOPMed gnomAD
CA383494846 rs779894744	1279	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1324830971 CA383494839	1279	A>V		No	ClinGen TOPMed gnomAD
rs371642178 CA6370683	1280	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs997117122 CA231248670	1281	G>V		No	ClinGen TOPMed gnomAD
CA383494813 rs1461977908	1282	A>T		No	ClinGen TOPMed gnomAD
rs902753653 CA231248665	1282	A>V		No	ClinGen Ensembl
rs563104931 CA6370682	1283	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs563104931 CA231248663	1283	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs368080986 CA6370681	1283	E>V		No	ClinGen ESP ExAC gnomAD
CA231248627 rs113674290	1284	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6370679 rs113674290	1284	V>E		No	ClinGen ExAC TOPMed gnomAD
CA383494779 rs113674290	1284	V>G		No	ClinGen ExAC TOPMed gnomAD
rs753544694 CA6370680	1284	V>M		No	ClinGen ExAC gnomAD
CA383494764 rs1192018095	1285	A>E		No	ClinGen TOPMed gnomAD
rs1192018095 CA383494759	1285	A>V		No	ClinGen TOPMed gnomAD
CA6370678 rs755790175	1288	A>P		No	ClinGen ExAC gnomAD
rs1464935549 CA383494688	1288	A>V		No	ClinGen TOPMed
rs1185632416 CA383515731	1290	V>F		No	ClinGen gnomAD
rs1185632416 CA383515727	1290	V>I		No	ClinGen gnomAD
rs372763089 CA6370646	1292	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1293	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770817848 CA6370644	1293	C>W		No	ClinGen ExAC gnomAD
rs1332480864 CA383515637	1294	L>S		No	ClinGen TOPMed
rs1348071363 CA383515619	1295	E>*		No	ClinGen gnomAD
rs749231175 CA6370643	1297	V>M		No	ClinGen ExAC TOPMed gnomAD
rs74796704 CA6370640 RCV000962233	1298	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6370641 rs769304769	1298	P>S		No	ClinGen ExAC gnomAD
rs1041107351 CA383515512	1299	V>F		No	ClinGen gnomAD
rs1041107351 CA231336223	1299	V>I		No	ClinGen gnomAD
rs780931398 CA6370639	1300	P>L		No	ClinGen ExAC gnomAD
CA6370638 rs564218854	1302	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1303	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318051093 CA383515403	1303	Q>R		No	ClinGen gnomAD
rs1380805103 CA383515386	1304	E>G		No	ClinGen TOPMed gnomAD
rs780534575 CA6370636	1305	N>K		No	ClinGen ExAC
rs747443810 CA6370637	1305	N>T		No	ClinGen ExAC gnomAD
CA6370635 rs758877192	1306	P>A		No	ClinGen ExAC TOPMed gnomAD
CA383515318 TCGA novel rs758877192	1306	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA ExAC TOPMed gnomAD
COSM925150 rs1415701341 CA383515201	1308	M>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6370634 rs750903154	1309	S>P		No	ClinGen ExAC gnomAD
CA383515158 rs1373479469	1310	P>S		No	ClinGen TOPMed gnomAD
rs75941252 RCV000889732 CA6370631	1312	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	1314	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383514982 rs1213876164	1315	P>S		No	ClinGen gnomAD
CA383514961 rs1213876164	1315	P>T		No	ClinGen gnomAD
CA383514842 rs1364842637	1318	P>A		No	ClinGen gnomAD
CA6370630 rs764370082	1318	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6370628 rs143857348	1322	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6370627 rs766153935	1323	G>S		No	ClinGen ExAC gnomAD
CA231336117 rs150693920	1324	H>R		No	ClinGen ESP gnomAD
rs776275021 CA6370623	1326	A>P		No	ClinGen ExAC gnomAD
rs776275021 CA383514614	1326	A>S		No	ClinGen ExAC gnomAD
rs776275021 CA6370622	1326	A>T		No	ClinGen ExAC gnomAD
rs1268634732 CA383514579	1328	S>P		No	ClinGen TOPMed gnomAD
rs1565516705 CA383514513	1329	S>F		No	ClinGen Ensembl
CA383514503 rs1389310388	1330	P>A		No	ClinGen TOPMed
rs536323576 CA6370620	1331	T>P		No	ClinGen 1000Genomes ExAC TOPMed
CA383514456 rs1312769981	1332	P>S		No	ClinGen TOPMed
CA383514341 rs1565516679	1335	G>V		No	ClinGen Ensembl
CA6370618 rs780597784	1336	P>L		No	ClinGen ExAC
CA383514235 rs1411645896	1339	R>K		No	ClinGen gnomAD
CA383514185 rs1479568485	1342	P>H		No	ClinGen TOPMed
rs1397119988 CA383514191	1342	P>S		No	ClinGen TOPMed gnomAD
CA383514163 rs1194274446	1343	K>R		No	ClinGen TOPMed
CA383514142 rs201978183	1344	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6370617 rs201978183	1344	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6370590 rs755152875	1345	R>S		No	ClinGen ExAC gnomAD
CA6370589 rs750273467	1346	P>R		No	ClinGen ExAC gnomAD
CA6370587 rs757282349	1347	M>T		No	ClinGen ExAC gnomAD
CA6370584 rs142029598	1349	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370585 rs763709978	1349	L>V		No	ClinGen ExAC gnomAD
CA6370583 rs774856829	1350	S>T		No	ClinGen ExAC gnomAD
CA383513897 rs1160873993	1351	T>A		No	ClinGen TOPMed gnomAD
CA6370582 rs767237741	1352	I>T		No	ClinGen ExAC TOPMed gnomAD
rs369201673 CA383513852	1353	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs369201673 CA231335513	1353	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs148581769 CA6370581	1353	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA383513858 rs148581769	1353	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs369201673 CA6370580	1353	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1476510253 CA383513842	1354	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6370579 rs377196164	1358	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377196164 CA383513733	1358	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs377196164 CA6370578	1358	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000886816 CA6370577 rs58640467	1359	K>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770275790 CA6370576	1359	K>R		No	ClinGen ExAC TOPMed gnomAD
rs748329322 CA6370575	1360	K>E		No	ClinGen ExAC gnomAD
CA6370574 rs781103347	1361	A>T		No	ClinGen ExAC TOPMed
CA6370572 rs372398621	1362	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370571 rs372398621	1362	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1035931934 CA231335433	1363	E>V		No	ClinGen TOPMed gnomAD
rs753671094 CA6370569	1364	S>L		No	ClinGen ExAC gnomAD
CA6370570 rs757059543	1364	S>P		No	ClinGen ExAC gnomAD
rs200829797 CA231335414	1365	K>N		No	ClinGen TOPMed gnomAD
CA231335406 rs1001407971	1366	S>N		No	ClinGen TOPMed
CA6370567 rs756085034	1368	H>R		No	ClinGen ExAC gnomAD
rs576684126 CA383513470	1369	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6370565 rs576684126	1369	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6370566 rs752297905	1369	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs554571220 CA383513430 CA6370564	1370	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs948022830 CA231335364	1370	S>T		No	ClinGen Ensembl
COSM428725 CA6370562 rs368939143	1371	R>Q	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs773805164 CA6370563	1371	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1372	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1026860198 CA231335332	1372	S>R		No	ClinGen TOPMed
rs1591819588 CA383513273	1375	V>A		No	ClinGen Ensembl
CA383513282 rs1462574112	1375	V>M		No	ClinGen gnomAD
CA383513243 rs1164882060	1376	L>V		No	ClinGen gnomAD
rs1025276009 CA231335309	1377	P>H		No	ClinGen Ensembl
rs150526752 CA6370560	1377	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383513186 rs1422165514	1378	F>L		No	ClinGen gnomAD
CA383513102 rs1187465520	1380	L>F		No	ClinGen gnomAD
CA6370559 rs374827156	1383	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1414229529 CA383513023	1384	S>N		No	ClinGen TOPMed
CA6370555 rs538396773	1389	C>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1446051198 CA383512896	1389	C>F		No	ClinGen TOPMed
rs780481345 CA383512873	1390	S>G		No	ClinGen ExAC gnomAD
CA6370554 rs780481345	1390	S>R		No	ClinGen ExAC gnomAD
rs1261817793 CA383512835	1391	Q>R		No	ClinGen gnomAD
rs750038620 CA6370523	1392	V>G		No	ClinGen ExAC TOPMed gnomAD
rs200401483 CA6370553	1392	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA383512677 rs1480260914	1393	S>A		No	ClinGen gnomAD
CA6370522 rs762142510	1393	S>C		No	ClinGen ExAC TOPMed gnomAD
rs762142510 CA6370521	1393	S>F		No	ClinGen ExAC TOPMed gnomAD
rs762142510 CA383512673	1393	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1477501729 CA383512657	1394	S>L		No	ClinGen TOPMed
CA6370520 rs754225230	1396	S>R		No	ClinGen ExAC gnomAD
CA383512589 rs1398809778	1398	E>V		No	ClinGen TOPMed
CA383512575 rs1413253325	1399	Q>E		No	ClinGen TOPMed
CA231333975 rs577629359	1401	S>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA383512543 rs1230560074	1401	S>A		No	ClinGen TOPMed gnomAD
COSM1352740 CA383512537 rs577629359	1401	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA383512519 rs1307063836	1402	N>D		No	ClinGen gnomAD
CA6370517 rs775730942	1402	N>S		No	ClinGen ExAC gnomAD
CA383512481 rs1415800236	1404	E>G		No	ClinGen gnomAD
CA6370515 rs199849895	1404	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370514 rs774653279	1406	E>K		No	ClinGen ExAC gnomAD
CA383512460 rs774653279	1406	E>Q		No	ClinGen ExAC gnomAD
rs35943668 CA6370512 CA231333920 RCV000958405	1407	H>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6370510 rs768528544	1408	V>A		No	ClinGen ExAC gnomAD
CA6370511 rs544332433	1408	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6370509 rs370416114	1413	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA231333863 rs768568029	1417	E>K		No	ClinGen gnomAD
CA383510234 CA6370461 rs773764304	1418	K>N		No	ClinGen ExAC TOPMed gnomAD
rs759417316 CA6370462	1418	K>R		No	ClinGen ExAC TOPMed
rs1400370816 CA383510226	1419	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA383510224 rs1161336828	1419	S>N		No	ClinGen gnomAD
CA6370458 rs565507967	1421	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA231329125 rs201517610	1421	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370457 rs201517610	1421	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA383510184 rs1193717404	1422	D>V		No	ClinGen gnomAD
rs1198030652 CA383510130	1426	G>A		No	ClinGen gnomAD
CA383510128 rs1340545111	1427	A>T		No	ClinGen gnomAD
rs1565512396 CA383510117	1427	A>V		No	ClinGen Ensembl
rs1226535740 CA383510106	1428	G>A		No	ClinGen TOPMed gnomAD
rs1226535740 CA383510104	1428	G>V		No	ClinGen TOPMed gnomAD
rs1373458678 CA383510098	1429	V>I		No	ClinGen gnomAD
rs1329370459 CA383510055	1431	Y>C		No	ClinGen gnomAD
CA231329099 rs755567163	1431	Y>H		No	ClinGen ExAC gnomAD
rs755567163 CA6370454	1431	Y>N		No	ClinGen ExAC gnomAD
CA231329082 rs112927809	1432	I>N		No	ClinGen Ensembl
rs1393036090 CA383510040	1432	I>V		No	ClinGen gnomAD
CA6370451 rs758448635	1433	G>E		No	ClinGen ExAC TOPMed gnomAD
CA383510017 rs1167714837	1433	G>R		No	ClinGen TOPMed gnomAD
rs750457578 CA6370450	1434	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1173819431 CA383509977	1435	P>S		No	ClinGen gnomAD
rs890752834 CA383509960	1436	R>P		No	ClinGen TOPMed gnomAD
CA231329068 rs890752834 COSM1352739	1436	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs375647395 CA6370448	1438	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs886993868 CA231329015	1439	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1438213688 CA383509884	1440	S>A		No	ClinGen gnomAD
CA383509711 rs1357184813	1443	E>D		No	ClinGen gnomAD
CA6370424 rs766377216	1444	K>E		No	ClinGen ExAC gnomAD
rs1446917443 CA383509671	1445	I>F		No	ClinGen gnomAD
rs762781869 CA6370423	1445	I>T		No	ClinGen ExAC gnomAD
rs1319820886 CA383509657	1446	E>K		No	ClinGen gnomAD
rs772875728 CA6370422	1447	G>S		No	ClinGen ExAC gnomAD
rs764802214 CA6370421	1447	G>V		No	ClinGen ExAC gnomAD
CA6370419 rs543579233	1448	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140724102 CA6370420	1448	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140903243 CA6370418	1449	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370417 rs747474828	1451	G>R		No	ClinGen ExAC gnomAD
CA6370415 rs772655583	1452	N>D		No	ClinGen ExAC gnomAD
rs147042577 CA6370414	1452	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6370412 rs757267104	1453	D>G		No	ClinGen ExAC TOPMed gnomAD
rs749352511 CA383509457	1454	I>M		No	ClinGen ExAC TOPMed gnomAD
CA383509472 rs1565512057	1454	I>T		No	ClinGen Ensembl
CA383509444 rs778033495	1455	L>F		No	ClinGen ExAC TOPMed
rs377143709 CA6370409	1456	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370408 rs751422964	1456	C>Y		No	ClinGen ExAC TOPMed
CA6370407 rs766041380	1457	L>F		No	ClinGen ExAC gnomAD
rs758395822 CA6370406	1458	S>L		No	ClinGen ExAC gnomAD
rs185906594 CA6370405	1459	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs185906594 CA6370404	1459	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1460	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363891491 CA383509369	1460	P>L		No	ClinGen gnomAD
CA231328823 rs986655732	1460	P>S		No	ClinGen gnomAD
CA6370403 rs200132835	1461	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463540040 CA383509327	1462	K>I		No	ClinGen gnomAD
rs776279014 CA6370402	1463	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776279014 CA383509304	1463	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA231328627 rs368734185	1464	P>L		No	ClinGen TOPMed gnomAD
rs1378979637 CA383509192	1464	P>S		No	ClinGen TOPMed
CA231328618 rs760380138	1467	P>H		No	ClinGen ExAC TOPMed gnomAD
CA6370379 rs760380138	1467	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752232158 CA6370378	1468	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs752232158 CA383509078	1468	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1235999723 CA383509039	1468	Q>R		No	ClinGen gnomAD
rs1312315486 CA383509028	1469	Q>*		No	ClinGen gnomAD
rs759956651 CA6370376	1472	V>M		No	ClinGen ExAC TOPMed gnomAD
rs113292086 CA6370374	1473	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs113292086 CA6370373	1473	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774664034 CA6370375	1473	R>W		No	ClinGen ExAC gnomAD
rs769700433 CA6370371	1474	S>A		No	ClinGen ExAC gnomAD
rs375523489 CA6370370	1474	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370368 rs768995468	1476	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6370367 rs141510296	1477	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA231328545 rs950252782	1478	N>D		No	ClinGen gnomAD
rs531995971 CA6370366	1479	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383508771 rs1591815258	1481	T>P		No	ClinGen Ensembl
CA6370364 rs757290309	1482	P>A		No	ClinGen ExAC gnomAD
rs1212649181 CA383508743	1482	P>L		No	ClinGen gnomAD
rs1483370323 CA383508732	1483	A>T		No	ClinGen gnomAD
CA6370363 rs561577155	1483	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6370362 rs371225900	1486	R>G		No	ClinGen ESP ExAC gnomAD
rs894509765 CA231328512	1487	R>S		No	ClinGen gnomAD
CA6370361 rs755637163	1489	L>F		No	ClinGen ExAC gnomAD
CA383508465 rs1228289225 COSM925147	1490	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6370360 rs147905924	1490	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1491	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs527285444 CA6370357	1492	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6370358 rs527285444	1492	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383508353 rs1555123168	1493	P>S		No	ClinGen Ensembl
CA6370354 rs368399444	1494	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6370352 rs370256378	1495	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA383508233 rs1159878749	1496	T>I		No	ClinGen gnomAD
rs576608179 CA6370351	1497	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6370350 rs776741918	1498	N>S		No	ClinGen ExAC gnomAD

1 associated diseases with P42695

[MIM: 617984]: Microcephaly 22, primary, autosomal recessive (MCPH22)

A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269|PubMed:27737959}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269|PubMed:27737959}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P42695

Type	Name	Position	InterPro Accession
domain	Condensin complex subunit 1, C-terminal	956 - 1127	IPR032682

Functions

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

5 GO annotations of cellular component

Name	Definition
condensed chromosome, centromeric region	The region of a condensed chromosome that includes the centromere and associated proteins, including the kinetochore. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
condensin complex	A multisubunit protein complex that plays a central role in chromosome condensation in meiosis and mitosis.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
pericentric heterochromatin	Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3).

2 GO annotations of molecular function

Name	Definition
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
methylated histone binding	Binding to a histone in which a residue has been modified by methylation.

3 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
meiotic chromosome condensation	Compaction of chromatin structure prior to meiosis in eukaryotic cells.
mitotic chromosome condensation	The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q15021	NCAPD2	Condensin complex subunit 1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MVALRGLGSG	LQPWCPLDLR	LEWVDTVWEL	DFTETEPLDP	SIEAEIIETG	LAAFTKLYES
70	80	90	100	110	120
LLPFATGEHG	SMESIWTFFI	ENNVSHSTLV	ALFYHFVQIV	HKKNVSVQYR	EYGLHAAGLY
130	140	150	160	170	180
FLLLEVPGSV	ANQVFHPVMF	DKCIQTLKKS	WPQESNLNRK	RKKEQPKSSQ	ANPGRHRKRG
190	200	210	220	230	240
KPPRREDIEM	DEIIEEQEDE	NICFSARDLS	QIRNAIFHLL	KNFLRLLPKF	SLKEKPQCVQ
250	260	270	280	290	300
NCIEVFVSLT	NFEPVLHECH	VTQARALNQA	KYIPELAYYG	LYLLCSPIHG	EGDKVISCVF
310	320	330	340	350	360
HQMLSVILML	EVGEGSHRAP	LAVTSQVINC	RNQAVQFISA	LVDELKESIF	PVVRILLQHI
370	380	390	400	410	420
CAKVVDKSEY	RTFAAQSLVQ	LLSKLPCGEY	AMFIAWLYKY	SRSSKIPHRV	FTLDVVLALL
430	440	450	460	470	480
ELPEREVDNT	LSLEHQKFLK	HKFLVQEIMF	DRCLDKAPTV	RSKALSSFAH	CLELTVTSAS
490	500	510	520	530	540
ESILELLINS	PTFSVIESHP	GTLLRNSSAF	SYQRQTSNRS	EPSGEINIDS	SGETVGSGER
550	560	570	580	590	600
CVMAMLRRRI	RDEKTNVRKS	ALQVLVSILK	HCDVSGMKED	LWILQDQCRD	PAVSVRKQAL
610	620	630	640	650	660
QSLTELLMAQ	PRCVQIQKAW	LRGVVPVVMD	CESTVQEKAL	EFLDQLLLQN	IRHHSHFHSG
670	680	690	700	710	720
DDSQVLAWAL	LTLLTTESQE	LSRYLNKAFH	IWSKKEKFSP	TFINNVISHT	GTEHSAPAWM
730	740	750	760	770	780
LLSKIAGSSP	RLDYSRIIQS	WEKISSQQNP	NSNTLGHILC	VIGHIAKHLP	KSTRDKVTDA
790	800	810	820	830	840
VKCKLNGFQW	SLEVISSAVD	ALQRLCRASA	ETPAEEQELL	TQVCGDVLST	CEHRLSNIVL
850	860	870	880	890	900
KENGTGNMDE	DLLVKYIFTL	GDIAQLCPAR	VEKRIFLLIQ	SVLASSADAD	HSPSSQGSSE
910	920	930	940	950	960
APASQPPPQV	RGSVMPSVIR	AHAIITLGKL	CLQHEDLAKK	SIPALVRELE	VCEDVAVRNN
970	980	990	1000	1010	1020
VIIVMCDLCI	RYTIMVDKYI	PNISMCLKDS	DPFIRKQTLI	LLTNLLQEEF	VKWKGSLFFR
1030	1040	1050	1060	1070	1080
FVSTLIDSHP	DIASFGEFCL	AHLLLKRNPV	MFFQHFIECI	FHFNNYEKHE	KYNKFPQSER
1090	1100	1110	1120	1130	1140
EKRLFSLKGK	SNKERRMKIY	KFLLEHFTDE	QRFNITSKIC	LSILACFADG	ILPLDLDASE
1150	1160	1170	1180	1190	1200
LLSDTFEVLS	SKEIKLLAMR	SKPDKDLLME	EDDMALANVV	MQEAQKKLIS	QVQKRNFIEN
1210	1220	1230	1240	1250	1260
IIPIIISLKT	VLEKNKIPAL	RELMHYLREV	MQDYRDELKD	FFAVDKQLAS	ELEYDMKKYQ
1270	1280	1290	1300	1310	1320
EQLVQEQELA	KHADVAGTAG	GAEVAPVAQV	ALCLETVPVP	AGQENPAMSP	AVSQPCTPRA
1330	1340	1350	1360	1370	1380
SAGHVAVSSP	TPETGPLQRL	LPKARPMSLS	TIAILNSVKK	AVESKSRHRS	RSLGVLPFTL
1390	1400	1410	1420	1430	1440
NSGSPEKTCS	QVSSYSLEQE	SNGEIEHVTK	RAISTPEKSI	SDVTFGAGVS	YIGTPRTPSS
1450	1460	1470	1480	1490
AKEKIEGRSQ	GNDILCLSLP	DKPPPQPQQW	NVRSPARNKD	TPACSRRSLR	KTPLKTAN