AiPD: Autoinhibited Protein Database

P23769

Gene name	GATA2
Protein name	Endothelial transcription factor GATA-2
Names	GATA-binding protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2624
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

146-228 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

146-228 (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

3 structures for P23769

Entry ID	Method	Resolution	Chain	Position	Source
5O9B	NMR	-	A	343-391	PDB
6ZFV	NMR	-	A	291-334	PDB
AF-P23769-F1	Predicted				AlphaFoldDB

586 variants for P23769

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA354409342 rs1220018679 RCV001036387	3	V>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000803337 rs1576750043 CA354409327	4	A>E	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs760132552 RCV000556049 CA354409314	6	E>K	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000812513 rs1576750018 CA915941571	6	E>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001060401 rs771557922	8	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2600123 rs771557922 RCV000531890	8	P>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001294996 rs771557922	8	P>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs367785289 RCV001764595 RCV001764594 RCV002255460 CA2600122 RCV001821590 RCV000551947 RCV001007609	10	W>C	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1576749993 RCV000813153 CA354409249	10	W>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2068711214 RCV001049039	13	H>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000807890 rs749214277 CA2600119	14	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001347791 rs2068710977	15	A>D	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2600115 RCV003153899 RCV001038330 rs781485787	16	V>M	Deafness-lymphedema-leukemia syndrome Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs777965976 RCV000649499 CA2600112	17	L>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA354409117 rs1303947441 RCV000697049	20	Q>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000810657 CA354409096 rs1576749923	21	H>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001050933 CA2600111 rs535362527	21	H>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1172590651 RCV001326780 CA354409089	22	P>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA354409081 rs1430054108 RCV001303784	22	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA354409083 rs1430054108 RCV000548083	22	P>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1172590651 CA354409087 RCV001038352	22	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1172590651 RCV002549630 RCV000984845 CA354409091	22	P>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1559988114 RCV000706249	23	D>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs760183425 RCV001231837	23	D>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068710194 RCV001065596	24	S>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354409031 rs1576749889 RCV000818581	26	H>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2600102 RCV001224015 rs762794939	34	M>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1576749857 RCV001147498	34	M>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354408889 rs1576749857 RCV000808230	34	M>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001221270 CA354408860 rs1348109698	36	P>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA2600100 rs143590990 RCV001146587 RCV000227295 RCV000504452 RCV001084371 RCV002257600	41	P>A	Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs143590990 RCV001052565 CA354408800	41	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000233976 RCV001262682 RCV002256172 CA2600097 rs370750401	46	D>N	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2068708769 RCV001065532	47	V>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000649491 rs1553771139 CA354408694	47	V>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10582135 rs878855170 RCV000230807 RCV001812654	48	F>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001341349 rs878855170 CA354408673	48	F>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1474218678 RCV001059515	49	F>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000799547 rs1576749789 COSM239953 CA354408634	50	N>S	Deafness-lymphedema-leukemia syndrome prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1576749771 CA354408557 RCV000813253	54	S>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2068708141 RCV001062656	57	N>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068708070 RCV001226807	58	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001542132 rs146150325 RCV001311611	59	Y>*	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001331504 RCV000525982 rs140047487 CA2600092	59	Y>C	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs750003894 RCV001243944	60	Y>C	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs375349195 RCV000234722 RCV000765713 RCV000984835 CA2600089	61	A>V	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001049661 CA2600087 rs751200779	62	N>K	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1240150433 CA354408391 RCV001066938	63	P>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001050258 rs1576749724 CA354408387	63	P>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs370831063 RCV001068495 CA354408373	64	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2068707355 RCV001298571	66	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001297429 rs2068707325	66	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000805266 CA354408281 rs1457679310	69	R>H	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001320763 rs2068706969	69	R>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000555700 RCV003224333 rs570531959 CA2600083	70	V>F	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1254938356 RCV001059063	72	Y>*	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs776819522 RCV001352606 CA354408198	74	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA354408178 rs1559987952 RCV000700771	75	A>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1179893883 CA354408191 RCV001051087	75	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1559987952 RCV001061948	75	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000796147 CA354408164 rs1576749657	76	H>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000022570 rs1576749301 RCV001542135	78	R>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1371798524 RCV001236790	80	T>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1060500083 RCV000461461 CA16611184	81	G>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000022566 rs869320735 RCV001542136	82	G>missing	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1426636606 RCV001220210 CA354407872	83	Q>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001223174 rs1426636606	83	Q>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001241041 rs2068699579	86	R>H	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354407621 rs1269493584 RCV000805812	93	P>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2068699101 RCV001241973	94	G>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001338445 rs1411693599	99	D>E	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1417506136 RCV001299880 CA354407508 CA354407506	100	G>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen gnomAD ClinVar dbSNP
RCV000466926 CA16611182 RCV000500768 rs1060500084	100	G>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553771053 RCV001345918	101	G>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000649500 rs1553771053 CA354407475	101	G>D	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2068698528 RCV001240621 RCV001256200	103	A>V	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinVar dbSNP
rs1060500089 CA16611144 RCV000462487	104	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000532650 CA2600043 RCV003133348 rs760660470	104	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001542142 rs1576749168 RCV000022569	105	L>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001309224 rs1435547673	108	A>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001035443 COSM1207941 CA354407321 rs1271751829	109	A>V	Deafness-lymphedema-leukemia syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
RCV001295019 rs2068697916	112	H>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354407257 rs1576749120 RCV000824630	113	H>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001819790 RCV001064124 rs777017660	113	H>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068697781 RCV001239903	114	N>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068697596 RCV001347743	118	V>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs144794596 CA2600038 RCV002256521 RCV001816864 RCV000802400	120	P>S	Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2068697462 RCV001055397	122	S>C	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000459028 rs569301892 RCV000121146 CA159889	124	T>K	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA354407061 COSM3427013 RCV001067794 rs569301892 RCV002292380	124	T>M	Deafness-lymphedema-leukemia syndrome large_intestine Variant assessed as Somatic; impact. Myelodysplastic syndrome [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000822466 rs1576749074 CA354407018	127	H>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1405092589 RCV001060446 CA354407000	128	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000792100 CA354406932 rs1468344279	133	G>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2068696971 RCV001146584	133	G>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000814315 RCV001816891 rs113166293 CA83372042	137	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs746362966 RCV000473843 CA2600034 RCV001146583	138	L>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA354406822 rs1576749003 RCV000797991	140	V>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001237060 rs2068696200	142	P>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000820962 rs1308814048 CA354406794	142	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs747596994 RCV001054689	144	A>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs754645961 CA2600029 RCV001211637	146	G>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs1161655427 CA354406746 RCV001035467	148	S>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1184430909 RCV001247754	149	G>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs753645971 RCV001821227 RCV000458357 CA2600028 RCV000765712	149	G>R	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001320236 rs2068695615	150	G>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354406720 rs1576748936 RCV000805646	152	S>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000703776 rs750384699 CA2600025 RCV001303791	152	S>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP ClinGen ExAC TOPMed gnomAD
RCV000801631 rs369637181 CA2600024	153	G>R	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA354406710 rs1559987448 RCV001318054	154	S>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000687105 CA354406689 rs1559987441	157	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001327864 rs751621459 CA2600022	160	T>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001762263 RCV000121147 RCV001079258 RCV000232396 RCV000389010 CA159894 rs34799090	161	P>A	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354406669 rs34799090 RCV000688241	161	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001246182 rs897072411 CA83371986	163	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001521211 RCV001711393 rs2335052 CA159904 VAR_055004 RCV001701605 RCV000332089 RCV000121149 COSM445531	164	A>T	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome large_intestine breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000813428 rs1559987389 RCV002495140 CA354406648	165	H>L	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA354406647 rs887833751 CA354406646 RCV000813612	165	H>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA2600018 COSM4138413 rs777283796 RCV001345353	166	S>C	ovary Deafness-lymphedema-leukemia syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA83371955 RCV001069702 rs377261969	168	S>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP
RCV001223309 rs2068693988	170	L>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001235552 rs755939655	175	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs779526840 CA2600012 RCV000806188	175	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1553770978 RCV000601326 CA354406583	176	T>P	Monocytopenia with susceptibility to infections [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001305742 rs2068693389 TCGA novel	178	P>H	Deafness-lymphedema-leukemia syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
RCV000703954 CA2600008 rs757177579	178	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1559987322 RCV001281374	179	K>*	multilineage dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs751678435 RCV001213428 CA2600007	179	K>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs751678435 RCV001312497	179	K>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1028518743 RCV000821815 CA83371931	180	E>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1028518743 RCV001219935	180	E>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1060500093 CA16611252 RCV000468681	181	V>M	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA354406549 RCV001239132 rs1294359651	182	S>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001294042 rs1373180685	185	P>S	Acute myeloid leukemia [ClinVar]	Yes	ClinVar dbSNP
rs1373180685 RCV001222116	185	P>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354406514 RCV000534566 rs1553770972	187	T>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000984840 RCV001542184 rs1576748738	188	T>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs202162468 RCV001067980	190	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs202162468 RCV000811315 CA354406499	190	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001058572 CA354406494 rs1355811506	191	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs773786765 RCV000690733 CA2599998	192	S>F	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001214957 rs1576748685	198	A>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354406457 RCV000803972 rs1576748685	198	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000649496 rs745726293 RCV002257905 CA2599993	198	A>V	Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2599992 RCV000559731 rs780930549	199	G>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001542188 RCV000984841 RCV001386685 rs768767517	200	G>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs768767517 RCV001542189 RCV000984842 RCV000022567 RCV001386684	200	G>*	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs373477245 RCV001237472 CA2599990	200	G>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000817386 rs373477245 CA2599991	200	G>D	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA354406428 rs1353988929 RCV001144643 RCV002032365	203	A>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001542190 rs1576748638 RCV000984843 CA354406422	204	R>*	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001204067 rs1460001422 CA354406421	204	R>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1060500087 CA16611249 RCV000467411	206	E>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2068691024 RCV001209328	207	D>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA83371863 rs998737902 RCV000649495	209	D>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000464423 rs765555593 CA2599986	210	G>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000649504 rs1553770955	210	G>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1060500088 RCV000477162 CA16611364	211	V>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000809166 rs1576748594 CA354406365	212	K>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA658796373 RCV000649493 RCV000984844 rs1553770949	219	E>*	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2068689916 RCV001262176	220	S>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354406309 COSM320551 RCV000987326 RCV000700032 rs1252930387	221	M>L	lung Deafness-lymphedema-leukemia syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA2599980 RCV001785615 RCV000470368 rs140382420	223	M>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001340003 rs146116228	225	S>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2599979 rs146116228 RCV000560625	225	S>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1455317777 RCV001210988 CA354406258	227	S>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs375298899 CA16611247 RCV000463273	228	P>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs769473824 RCV000823547 CA2599977	230	R>C	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000817105 rs1265283318 CA354406242	230	R>H	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001327157 rs1265283318	230	R>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1377041124 RCV002224073 CA354406226 RCV001345338	233	L>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs776216814 CA2599975 RCV001214942	234	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA2599974 rs746737860 RCV000801426	236	M>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000457631 RCV000984847 rs61754578 CA2599972	236	M>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000853226 CA2599973 RCV000649502 rs746737860 RCV001816621	236	M>V	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs191501191 RCV000499900 RCV000371671 RCV000535107 CA2599971 RCV002502317	237	G>D	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel RCV001042615 rs2068688798	240	P>L	Deafness-lymphedema-leukemia syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
rs2068688771 RCV001051492	241	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs886057931 RCV000822691 CA10614773 RCV000319083	242	T>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000700500 CA354406121 rs369673069	243	H>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1576748504 CA354406133 RCV000804249	243	H>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs954005309 RCV001206349 CA83371792	244	H>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001055009 rs2068688443	245	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001231670 rs2068688361	247	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1428619448 RCV000695588 CA354406068	248	T>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001233499 rs2068688330	248	T>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000121148 CA159899 RCV000261596 rs78245253 RCV000459452 RCV001657763	250	P>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2599967 rs78245253 RCV000547722	250	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA16611142 RCV000471971 rs1060500090	252	Y>C	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000022560 CA128576 RCV001541968 rs387906630 VAR_066405	254	P>L	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome IMD21 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs387906630 CA354406006 RCV000694952	254	P>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2068687757 RCV001299588	255	A>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068687757 RCV001303568	255	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001051938 rs1239047306 CA354405959	259	D>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA354405962 rs768133841 RCV001240488	259	D>N	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001786451 rs747128645 RCV001214932	260	Y>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1576748453 RCV001234723 CA354405946	260	Y>C	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1330387746 RCV001050062	263	G>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000707549 CA159909 rs587778378 RCV000121150	263	G>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001062048 CA354405905 rs1559986980	264	L>F	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001226728 CA83371757 rs866323045	266	H>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10615220 RCV000358864 COSM3364985 rs886057930	267	P>L	kidney Deafness-lymphedema-leukemia syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001211707 rs886057930	267	P>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354405865 RCV000984849 RCV001542214 rs764747992	268	G>*	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000797080 CA354405861 rs1576748419	268	G>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000813214 rs776267955 CA2599958	270	F>C	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs770511115 CA83371733 RCV001208390	272	G>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000528406 CA2599957 rs770511115	272	G>E	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA354405832 rs367955980 RCV001234339 CA83371738	272	G>R	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen NCI-TCGA gnomAD ClinVar dbSNP
rs1559986940 CA354405819 RCV000686517	273	G>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001542216 rs1559986946 RCV000696729	274	P>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000765711 CA2599954 rs141800945 RCV002257773 RCV000540993 RCV000502247 RCV001200274	277	S>G	Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1576748378 RCV000987325	278	F>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354405771 RCV000796875 rs1449079964	278	F>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000787953 rs1576748366	280	P>missing	Monocytopenia with susceptibility to infections [ClinVar]	Yes	ClinVar dbSNP
RCV001202774 rs2068685897	281	K>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000800918 rs1576748346 CA354405137	283	R>H	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001339547 rs797045592	286	A>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001203272 RCV001267764 rs1443864030	286	A>P	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001297125 CA354405117 rs1443864030	286	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA207231 RCV000984851 RCV000193630 rs797045592 RCV001542217	286	A>V	Deafness-lymphedema-leukemia syndrome Leukemia, acute myeloid, susceptibility to [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002257935 rs1004873472 CA83371712 RCV000694812	287	R>H	Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1559986109 RCV000686956	302	A>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001229124 CA354404802 rs1237462942	302	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000689886 rs1559986102 CA354404705	307	R>Q	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001301867 RCV001542223 rs2068661887	313	H>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001541969 RCV001234505 rs2068661734	317	N>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001335241 RCV000800905 rs1576746862	324	K>missing	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000626766 RCV001315971 rs1480450110 CA354404434 RCV000984854	324	K>R	Anemia Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000793168 rs1576746847 CA354404344 COSM1207940 RCV001542110	330	R>*	Deafness-lymphedema-leukemia syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001327165 rs2068661125	336	K>E	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000984812 CA128584 RCV000022571 RCV000812052 rs387906632 RCV001542112	337	R>*	Deafness-lymphedema-leukemia syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs387906632 RCV001342280	337	R>G	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1553770524 RCV000527772 CA658657335	340	S>CL	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001542157 rs1576745308 RCV000984816	341	A>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001324894 rs2068635788	341	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001214332 rs2068635607	342	A>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000210903 rs869320770 RCV000704724	342	A>missing	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA16611241 RCV000459902 rs751285156	342	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2599879 rs751285156 RCV000808036 RCV001541975	342	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2068635493 RCV001071635	342	A>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs143554523 RCV000540223 RCV003148784 CA2599878	342	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001062521 RCV000984817 CA354413698 rs1313081073	343	R>*	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1559985135 RCV001816732 RCV000704865 CA354413679 RCV001541976	346	G>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1576745270 RCV000788787 RCV001541946	347	T>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068635002 RCV001057667	347	T>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068633920 RCV001316672	348	C>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000987323 RCV001542202 CA354413659 rs1576745260	349	C>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000987322 CA354413656 rs1576745256	349	C>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000984819 rs1576745252 CA354413641 RCV001542204	351	N>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs797045591 RCV001542205 CA208292 RCV000194241	352	C>R	Deafness-lymphedema-leukemia syndrome Leukemia, acute myeloid, susceptibility to [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000426616 RCV000022562 RCV001542226 CA128580 RCV000706855 RCV000022561 RCV000022563 VAR_066406 RCV000984820 rs387906631	354	T>M	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Myelodysplastic syndrome (mds) Variant assessed as Somatic; impact. Leukemia, acute myeloid, susceptibility to Acute myeloid leukemia Myelodysplastic syndrome IMD21 and MDS [ClinVar, Ensembl, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000472737 rs1060500085 CA16611238	355	T>K	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_066643	355	T>del	MDS [UniProt]	Yes	UniProt
CA354413606 RCV001308216 rs1468788950	356	T>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000022574 RCV001542228 rs1576745225	358	T>missing	Deafness-lymphedema-leukemia syndrome Myelodysplastic syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001043644 rs1174464035	359	L>F	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000457272 rs1060500091 CA16611354 COSM41611	359	L>V	Deafness-lymphedema-leukemia syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000984821 RCV000528994 CA354413577 RCV001542237 RCV003224332 rs1426175410	361	R>C	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA354413578 RCV000500143 RCV001542236 rs1426175410	361	R>G	Deafness-lymphedema-leukemia syndrome Leukemia, acute myeloid, susceptibility to [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs387906634 CA128593 RCV001542238 RCV000022573	361	R>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_066644	361	R>P	LMPM [UniProt]	Yes	UniProt
rs2068634140 RCV001547703 RCV001069965	362	R>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354413573 RCV001542118 RCV001857100 RCV000504503 rs1553770510 RCV000987321 RCV000984822	362	R>*	Deafness-lymphedema-leukemia syndrome Leukemia, acute myeloid, susceptibility to [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs867160952 COSM87004 CA83376555 RCV000761281 RCV001508505 RCV002533864	362	R>Q	Deafness-lymphedema-leukemia syndrome Variant assessed as Somatic; impact. urinary_tract haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs869320734 RCV001542117 RCV000022565	362	R>missing	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000811801 CA2599871 rs766504293	364	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001204327 rs773430309 CA2599869	365	N>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2068633510 RCV001225480	368	P>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001542124 CA210024 rs376003468 RCV000197751	371	N>K	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs936826425 RCV001542127 RCV001049958	372	A>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_066645 CA128589 RCV001543679 RCV000022572 RCV001542161 rs387906633	373	C>R	Deafness-lymphedema-leukemia syndrome LMPM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA354413496 RCV001508504 RCV000696775 rs1559985057	374	G>D	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs863224874 RCV000199975	376	Y>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1559984811 RCV000703003 CA354413412	382	V>F	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2068625752 RCV001214569	383	N>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000545396 rs1553770444	387	T>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001542174 CA16611169 RCV000459207 rs1060500092	387	T>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001241681 rs2068625186	389	K>TW	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1576744556 RCV001323853	390	K>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000553311 rs1553770437 CA354413265 RCV001821588	393	I>M	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001347483 RCV001762590 rs2068625277	393	I>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354413234 COSM203766 RCV001541953 RCV000529588 RCV000984830 rs1553770434	396	R>Q	Deafness-lymphedema-leukemia syndrome large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000984829 RCV002549629 RCV001541952 CA354413236 rs1576744529	396	R>W	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001207183 CA354413213 rs1420609104 RCV001541955	398	R>Q	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV001541956 CA128572 VAR_066407 RCV001384284 RCV000984831 rs387906629 RCV000445214 RCV000502442 RCV000022559	398	R>W	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome Leukemia, acute myeloid, susceptibility to Acute myeloid leukemia IMD21 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000468485 rs1060500086 CA16611352	400	M>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001040634 RCV003141957 CA2599822 rs375927513	402	N>S	Monocytopenia with susceptibility to infections Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs756096688 CA2599817 RCV000799484	406	K>M	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2068624284 RCV001312603	407	S>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA354413093 RCV001298581 rs1576744467	408	K>E	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA354413053 RCV000796362 rs374457534	411	A>E	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000546615 RCV000765710 RCV002255458 RCV003223653 rs374457534 CA2599816	411	A>V	Variant assessed as Somatic; 0.0001386 impact. Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome Acute myeloid leukemia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1559984721 CA354413038 RCV000687942	412	E>D	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1283468852 RCV000794437 CA354413030	413	C>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000812900 CA2599814 rs751577185	414	F>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA354413009 rs1345163538 RCV001541959 RCV000649497	415	E>K	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV000649492 CA354412989 rs1553770425	416	E>D	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553770422 RCV000558730 CA354412936	421	M>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001216918 rs764442526	421	M>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs758517602 CA2599811 RCV001306418	423	E>K	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000542992 RCV001821589 rs146554939 RCV002255459 RCV000984833 CA2599809	425	S>L	Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000534788 CA354412896 rs753159607	425	S>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001052008 rs2068623217	427	P>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs909675639 CA16611345 RCV000475187	428	F>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs201155045 RCV001059275	429	S>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001150746 RCV000765709 RCV000502835 RCV001541960 rs201155045 RCV000463544 CA2599808	429	S>T	Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001046047 RCV002254329 rs2068623044	430	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000812311 CA354412821 rs1576744335	434	A>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000815723 CA2599803 rs768399393	438	A>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel RCV000796346 rs1576744314 CA354412785	439	P>S	Deafness-lymphedema-leukemia syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA Ensembl dbSNP
RCV001034955 CA83376241 rs1126559	440	V>M	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000696199 CA2599798 rs781161922	444	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001339673 rs2068622027	446	F>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1576744275 CA354412712 RCV000984834 RCV001541962	447	S>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001764367 RCV000765708 RCV000473249 CA2599793 COSM1037983 rs370164300	450	G>R	Variant assessed as Somatic; 0.0 impact. Deafness-lymphedema-leukemia syndrome endometrium Acute myeloid leukemia [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001350483 rs2068621583	454	P>H	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2599792 RCV000821260 rs774297463	454	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755408952 CA2599791 RCV001350362	455	T>P	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs372912472 RCV002281090 CA2599789 RCV001821225 RCV002256240 RCV000466735	456	P>L	Deafness-lymphedema-leukemia syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs139415862 CA2599787 RCV002264975 RCV000691681	457	T>M	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000538147 rs1169516070 CA354412602	458	P>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs369407958 CA2599785 RCV001067819	459	I>N	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001213010 CA2599784 rs369407958	459	I>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000704488 rs1559984575 CA354412557	462	S>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs770949428 CA2599779 RCV001764366 RCV000473302 RCV001821226 RCV003153574	464	S>I	GATA2 deficiency with susceptibility to MDS/AML Deafness-lymphedema-leukemia syndrome Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001300014 rs2068620357	467	F>missing	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001726307 CA2599777 rs777726701 RCV000696156	468	G>S	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA354412489 RCV001857099 RCV000500353 rs772050518	469	H>Q	Deafness-lymphedema-leukemia syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001331503 rs2068620221	469	H>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1449742251 RCV001349271	470	P>R	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001208090 rs2068619997	471	H>Y	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA500008 RCV000822451 rs779338723	472	P>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000806325 CA354412431 rs1429596189	475	M>L	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001202107 rs2068619532	476	V>A	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068619463 RCV001338351	477	T>I	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2068619351 RCV001224679	478	A>V	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001295780 rs2068619272	479	M>T	Deafness-lymphedema-leukemia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2600127 rs17851306	5	P>R		No	ClinGen ExAC gnomAD
rs760132552 CA2600125	6	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1452320871 CA354409280	7	Q>H		No	ClinGen gnomAD
CA2600124 rs772886955	8	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1392814696 CA354409256	9	R>H		No	ClinGen TOPMed gnomAD
rs1392814696 CA354409253	9	R>L		No	ClinGen TOPMed gnomAD
CA354409259 rs1436974541	9	R>S		No	ClinGen gnomAD
CA2600121 rs774005466	11	M>V		No	ClinGen ExAC gnomAD
CA354409205 rs1263269900	12	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	13	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354409192 rs1485533975	13	H>R		No	ClinGen gnomAD
rs780089207 CA2600118	14	P>R		No	ClinGen ExAC gnomAD
rs1413920280 CA354409167	15	A>T		No	ClinGen gnomAD
CA2600116 rs781485787	16	V>L		No	ClinGen ExAC TOPMed gnomAD
CA354409128 rs1361789790	19	A>E		No	ClinGen gnomAD
TCGA novel	19	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354409115 rs1303947441	20	Q>R		No	ClinGen gnomAD
CA354409102 rs1416953141	21	H>Y		No	ClinGen gnomAD
CA2600108 rs760183425	23	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1376723906 CA354409067	23	D>V		No	ClinGen TOPMed
rs2878322 CA83372466	25	H>P		No	ClinGen gnomAD
rs1190021538 CA354409033	25	H>Q		No	ClinGen gnomAD
CA354409039 rs2878322	25	H>R		No	ClinGen gnomAD
rs749879020 CA2600107	25	H>Y		No	ClinGen ExAC gnomAD
rs767260206 CA2600106	26	H>Q		No	ClinGen ExAC gnomAD
rs774249703 CA2600104	30	A>T		No	ClinGen ExAC gnomAD
CA354408930 rs1225259829	31	H>L		No	ClinGen gnomAD
rs1010470274 CA83372437	31	H>Q		No	ClinGen TOPMed
CA354408919 rs1237254296	32	N>S		No	ClinGen TOPMed
CA354408893 rs762794939	34	M>V		No	ClinGen ExAC TOPMed gnomAD
CA354408849 rs1576749841	37	A>T		No	ClinGen Ensembl
CA2600099 rs745999608	42	P>Q		No	ClinGen ExAC gnomAD
CA354408788 rs1436193518	42	P>S		No	ClinGen Ensembl
CA2600090 rs750003894	60	Y>F		No	ClinGen ExAC gnomAD
CA2600088 rs761336696	62	N>S		No	ClinGen ExAC gnomAD
rs1240150433 CA354408389	63	P>S		No	ClinGen TOPMed gnomAD
rs370831063 CA2600085	64	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA354408315 rs1390513714	67	R>L		No	ClinGen gnomAD
rs1172408774 CA354408301	68	A>G		No	ClinGen Ensembl
rs534541303 CA83372373	68	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs534541303 CA354408308	68	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA354408283 rs1457679310	69	R>P		No	ClinGen TOPMed
rs1471015297 CA354408207	73	S>N		No	ClinGen gnomAD
CA354408202 rs1454793467	73	S>R		No	ClinGen TOPMed
rs776819522 CA2600081	74	P>R		No	ClinGen ExAC gnomAD
rs770940723 CA2600080	76	H>Q		No	ClinGen ExAC gnomAD
CA354408153 rs1253694694	77	A>T		No	ClinGen gnomAD
rs867138640 CA83372109	78	R>H		No	ClinGen gnomAD
rs867138640 CA354407978	78	R>L		No	ClinGen gnomAD
CA354407967 rs1476440293	79	L>M		No	ClinGen TOPMed gnomAD
COSM1484572 CA354407960 rs1476440293	79	L>V	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1274861441 CA354407940	80	T>A		No	ClinGen TOPMed
CA354407925 rs1371798524	80	T>I		No	ClinGen gnomAD
rs981738420 CA83372097	81	G>R		No	ClinGen TOPMed gnomAD
CA83372090 rs924409987	86	R>C		No	ClinGen Ensembl
CA354407792 rs1260113676	87	P>S		No	ClinGen gnomAD
CA354407779 rs1208261775	88	H>Y		No	ClinGen gnomAD
CA2600049 rs758171435	92	S>N		No	ClinGen ExAC gnomAD
CA354407620 rs1269493584	93	P>L		No	ClinGen gnomAD
rs1357122451 CA354407614	94	G>S		No	ClinGen gnomAD
CA83372083 rs868076604	96	P>S		No	ClinGen Ensembl
TCGA novel	97	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354407551 rs1413946801 CA354407548	97	W>R		No	ClinGen gnomAD
rs766288736 CA2600044	99	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2600045 rs753611310	99	D>Y		No	ClinGen ExAC gnomAD
rs1170563192 CA354407486	100	G>V		No	ClinGen TOPMed gnomAD
rs1420466869 CA354407482	101	G>S		No	ClinGen gnomAD
CA354407436 rs1186170515	103	A>T		No	ClinGen gnomAD
rs1435547673 CA354407349	108	A>T		No	ClinGen gnomAD
CA83372059 rs80304167	110	A>P		No	ClinGen Ensembl
CA354407298 rs1576749129	111	H>P		No	ClinGen Ensembl
CA354407215 rs1280330175	115	P>L		No	ClinGen gnomAD
rs1553771050 RCV000599375	116	W>missing		No	ClinVar dbSNP
TCGA novel	119	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354407135 rs1330673412	120	P>L		No	ClinGen TOPMed
rs1163426216 CA354407024	127	H>Y		No	ClinGen gnomAD
rs1405092589 CA354406999	128	P>H		No	ClinGen TOPMed gnomAD
rs775918028 CA2600036	130	A>V		No	ClinGen ExAC gnomAD
rs1193650911 CA354406907	134	P>L		No	ClinGen gnomAD
RCV000984837 rs1576749014	136	G>missing		No	ClinVar dbSNP
rs770243533 CA2600035	136	G>C		No	ClinGen ExAC TOPMed gnomAD
CA354406882 rs1474520167	136	G>V		No	ClinGen gnomAD
rs747596994 CA2600031	144	A>D		No	ClinGen ExAC gnomAD
rs771741053 CA2600032	144	A>S		No	ClinGen ExAC gnomAD
rs778721889 CA2600030	146	G>S		No	ClinGen ExAC gnomAD
CA354406737 rs1184430909	149	G>E		No	ClinGen TOPMed gnomAD
rs1173913751 CA354406729	150	G>V		No	ClinGen gnomAD
rs756058583 CA2600026	151	G>D		No	ClinGen ExAC gnomAD
rs754721904 CA83372012	157	A>D		No	ClinGen Ensembl
CA354406673 rs1469388941	160	T>P		No	ClinGen gnomAD
CA354406667 rs1350131138	161	P>L		No	ClinGen gnomAD
rs34799090 CA2600020	161	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770215567 CA2600019	162	T>P		No	ClinGen ExAC gnomAD
rs17844950 CA83371982	164	A>D		No	ClinGen TOPMed
CA83371979 rs17844950	164	A>G		No	ClinGen TOPMed
CA354406654 rs2335052	164	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83371977 rs17844950	164	A>V		No	ClinGen TOPMed
CA2600015 rs778562222	168	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1392717588 CA354406624	169	H>Q		No	ClinGen gnomAD
CA2600014 rs768236530	172	G>A		No	ClinGen ExAC TOPMed gnomAD
CA354406592 rs1253079679	174	P>L		No	ClinGen gnomAD
CA354406593 rs1487820188	174	P>S		No	ClinGen gnomAD
rs755939655 CA2600011	175	P>H		No	ClinGen ExAC gnomAD
rs755939655 CA354406586 RCV000984838	175	P>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA2600010 rs750157738	176	T>K		No	ClinGen ExAC TOPMed gnomAD
rs750157738 CA354406581	176	T>M		No	ClinGen ExAC TOPMed gnomAD
CA354406568 rs1559987322	179	K>E		No	ClinGen Ensembl
CA354406551 rs1213379943	181	V>G		No	ClinGen gnomAD
rs528737073 CA2600004	183	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1559987298 CA354406538	184	D>H		No	ClinGen Ensembl
RCV000984839 rs1576748609	185	P>missing		No	ClinVar dbSNP
CA354406531 rs1373180685	185	P>A		No	ClinGen gnomAD
rs202162468 CA2600001	190	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs767059760 CA2600000	191	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2599999 rs761237564	192	S>P		No	ClinGen ExAC gnomAD
rs1443381574 CA354406477	194	A>S		No	ClinGen gnomAD
CA2599997 rs768238077	194	A>V		No	ClinGen ExAC gnomAD
CA354406463 rs1200135021	196	S>F		No	ClinGen gnomAD
rs142693553 CA83371884	197	S>Y		No	ClinGen ESP TOPMed
rs780930549 CA354406449	199	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1576748671 CA354406452	199	G>R		No	ClinGen Ensembl
CA354406446 rs1559987219	200	G>R		No	ClinGen Ensembl
rs768767517	200	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs768767517	201	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765555593 CA354406382	210	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1576748582 RCV000984846	219	E>missing		No	ClinVar dbSNP
CA354406322 rs1187094854	219	E>A		No	ClinGen gnomAD
rs146116228 CA354406273	225	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA354406256 rs1576748559	227	S>R		No	ClinGen Ensembl
rs375298899 CA2599978	228	P>S		No	ClinGen ESP ExAC gnomAD
rs769473824 CA354406246	230	R>S		No	ClinGen ExAC gnomAD
TCGA novel	233	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745497331 CA2599976	233	L>V		No	ClinGen ExAC gnomAD
rs988409355 CA83371819	235	T>A		No	ClinGen TOPMed gnomAD
rs35079193 VAR_055005 CA83371814	235	T>N		No	ClinGen UniProt Ensembl dbSNP
CA354406114 rs1576748497	244	H>P		No	ClinGen Ensembl
rs756555004 CA2599966	250	P>L		No	ClinGen ExAC gnomAD
CA354406009 rs1238832083	254	P>S		No	ClinGen TOPMed
CA354405965 rs1353328065	258	H>Q		No	ClinGen gnomAD
rs768133841 CA2599964	259	D>H		No	ClinGen ExAC gnomAD
TCGA novel	260	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354405935 rs1559987003	261	S>N		No	ClinGen Ensembl
rs1305082777 CA354405919	262	S>I		No	ClinGen gnomAD
RCV000984848 CA354405922 rs1305082777	262	S>N		No	ClinGen ClinVar dbSNP gnomAD
CA354405910 rs1330387746	263	G>V		No	ClinGen gnomAD
CA2599962 rs762191699	266	H>R		No	ClinGen ExAC gnomAD
CA83371764 rs982084108	266	H>Y		No	ClinGen Ensembl
CA2599960 rs764747992	268	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2599959 rs759006321	269	G>D		No	ClinGen ExAC
rs1348862489 CA354405801	275	A>D		No	ClinGen TOPMed gnomAD
rs1194571051 CA354405776	277	S>I		No	ClinGen gnomAD
CA354405779 rs141800945	277	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1215441421 CA354405169	279	T>N		No	ClinGen gnomAD
rs748013734 CA2599953	279	T>S		No	ClinGen ExAC gnomAD
CA354405147 rs1576748357 RCV000984850	282	Q>*		No	ClinGen ClinVar Ensembl dbSNP
COSM1037987 rs148024280 CA2599952	283	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA354405139 rs148024280	283	R>S		No	ClinGen ESP ExAC gnomAD
CA2599950 rs1443864030	286	A>S		No	ClinGen TOPMed
CA2599949 rs768892880	288	S>F		No	ClinGen ExAC gnomAD
rs780479282 CA2599947	289	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	290	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354404962 rs1183274453	294	E>V		No	ClinGen gnomAD
RCV000984853 rs1576746931	297	N>missing		No	ClinVar dbSNP
rs1559986113 CA354404818	301	T>I		No	ClinGen Ensembl
CA354404797 rs1576746913	303	T>P		No	ClinGen Ensembl
CA354404670 rs1576746908	309	D>G		No	ClinGen Ensembl
rs1287554701 CA354404648	310	G>A		No	ClinGen gnomAD
CA354404655 rs1262581730	310	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767135651 CA2599916	311	T>P		No	ClinGen ExAC gnomAD
TCGA novel	312	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83370792 rs866549293	312	G>D		No	ClinGen Ensembl
rs1576746883 COSM249852 CA354404538	317	N>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1559986079 CA354404492	320	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	322	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442352352 CA354404450	323	H>R		No	ClinGen gnomAD
rs1576746848 RCV000788382	327	G>missing		No	ClinVar dbSNP
TCGA novel	328	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745439347 CA354413709	340	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745439347 CA2599882	340	S>W		No	ClinGen ExAC gnomAD
CA354413690 rs1559985140	344	R>I		No	ClinGen Ensembl
CA354413688 rs1559985140	344	R>K		No	ClinGen Ensembl
rs1576745241 RCV000984818	346	G>missing		No	ClinVar dbSNP
TCGA novel	351	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	352	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	354	T>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	358	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83376558 rs148942346	358	T>I		No	ClinGen ESP
CA354413563 rs753914237	363	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2599870 rs574262238	364	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs758912342 COSM3427012 CA83376544	366	G>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1386754402 CA354413545	367	D>Y		No	ClinGen gnomAD
rs936826425 CA83376538	372	A>P		No	ClinGen TOPMed
rs750890699 RCV000984823 CA354413481	376	Y>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM255198 CA2599864 rs749819993	379	L>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA354413409 rs1240484231	382	V>A		No	ClinGen gnomAD
CA354413370 rs1488596414	386	L>V		No	ClinGen TOPMed
rs1576744575 RCV000984826	388	M>missing		No	ClinVar dbSNP
rs1576744556 RCV000984827	389	K>missing		No	ClinVar dbSNP
TCGA novel	389	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777230453 CA2599824	392	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1190938460 CA354413245	395	T>S		No	ClinGen TOPMed
rs1576744529 CA354413238 RCV000984828	396	R>G		No	ClinGen ClinVar Ensembl dbSNP
CA83376298 rs371096438	399	K>N		No	ClinGen ESP TOPMed
CA354413201 rs1362694541	399	K>R		No	ClinGen gnomAD
CA2599819 rs779797858 CA2599818	405	K>N		No	ClinGen ExAC gnomAD
rs768183373 CA2599820	405	K>R		No	ClinGen ExAC gnomAD
CA354413103 rs1166927998	407	S>N		No	ClinGen gnomAD
CA354413067 rs1267186423	410	G>R		No	ClinGen gnomAD
CA354413028 rs1283468852	413	C>F		No	ClinGen gnomAD
TCGA novel	415	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1037327872 CA83376272	420	C>Y		No	ClinGen Ensembl
CA2599812 rs764442526	421	M>V		No	ClinGen ExAC gnomAD
rs1278525191	423	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2599810 rs753159607	425	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1576744367 CA354412889	426	S>P		No	ClinGen Ensembl
rs777283732 CA2599807	429	S>R		No	ClinGen ExAC gnomAD
CA2599805 rs761447305	432	A>T		No	ClinGen ExAC gnomAD
CA354412822 rs1576744341	433	L>R		No	ClinGen Ensembl
rs773731858 CA2599804	436	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	438	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762576353 CA2599802	439	P>L		No	ClinGen ExAC gnomAD
rs1009940359 CA83376238	442	H>P		No	ClinGen Ensembl
CA354412735 rs781161922	444	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2599799 rs745601795	444	P>S		No	ClinGen ExAC gnomAD
rs976064371 CA83376225	445	P>L		No	ClinGen Ensembl
CA2599796 rs747150675	447	S>I		No	ClinGen ExAC
rs1338194519 CA354412703	447	S>R		No	ClinGen gnomAD
rs755408952 CA354412629	455	T>A		No	ClinGen ExAC gnomAD
CA2599790 rs754242887	455	T>I		No	ClinGen ExAC gnomAD
CA2599783 COSM479377 rs769419116	460	H>P	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA354412583 rs1238852620	460	H>Y		No	ClinGen gnomAD
CA354412577 rs1238679450	461	P>S		No	ClinGen TOPMed gnomAD
CA354412558 rs759392299	462	S>A		No	ClinGen ExAC TOPMed gnomAD
rs759392299 CA2599782	462	S>P		No	ClinGen ExAC TOPMed gnomAD
COSM2150671 CA2599781 rs200597976	463	S>P	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1559984558 CA354412525	465	L>P		No	ClinGen Ensembl
CA354412502 rs777726701	468	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1576744134 CA354412495	469	H>P		No	ClinGen Ensembl
rs1449742251 CA354412482	470	P>L		No	ClinGen gnomAD
CA354412472 rs1398739326	471	H>P		No	ClinGen gnomAD
CA354412470 rs1398739326	471	H>R		No	ClinGen gnomAD
TCGA novel	471	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2599775 rs779338723	472	P>Q		No	ClinGen ExAC gnomAD
rs1228557730 CA354412442	474	S>T		No	ClinGen TOPMed
CA354412433 rs1429596189	475	M>V		No	ClinGen gnomAD
rs1161135105 CA354412419	476	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2599772 rs780263343	478	A>T		No	ClinGen ExAC gnomAD
rs997564421 CA83376177 CA83376175 COSM305566	479	M>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
rs901948475 CA83376173	480	G>C		No	ClinGen TOPMed

3 associated diseases with P23769

[MIM: 614172]: Immunodeficiency 21 (IMD21)

An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T-cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. {ECO:0000269|PubMed:21670465}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 614038]: Lymphedema, primary, with myelodysplasia (LMPM)

A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment. {ECO:0000269|PubMed:21892158}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 614286]: Myelodysplastic syndrome (MDS)

A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are

Without disease ID

An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T-cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. {ECO:0000269|PubMed:21670465}. Note=The disease is caused by variants affecting the gene represented in this entry.
A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment. {ECO:0000269|PubMed:21892158}. Note=The disease is caused by variants affecting the gene represented in this entry.
A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are

2 regional properties for P23769

Type	Name	Position	InterPro Accession
domain	Zinc finger, GATA-type	289 - 344	IPR000679-1
domain	Zinc finger, GATA-type	343 - 398	IPR000679-2

Functions

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

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

11 GO annotations of molecular function

Name	Definition
C2H2 zinc finger domain binding	Binding to a C2H2-type zinc finger domain of a protein. The C2H2 zinc finger is the classical zinc finger domain, in which two conserved cysteines and histidines co-ordinate a zinc ion.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription coactivator binding	Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery.
transcription coregulator binding	Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery.
zinc ion binding	Binding to a zinc ion (Zn).

54 GO annotations of biological process

Name	Definition
brown fat cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria.
cell differentiation in hindbrain	The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mature cells of the hindbrain. Differentiation includes the processes involved in commitment of a cell to a specific fate.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cell fate determination	A process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment.
central nervous system neuron development	The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron.
cochlea development	The progression of the cochlea over time from its formation to the mature structure. The cochlea is the snail-shaped portion of the inner ear that is responsible for the detection of sound.
commitment of neuronal cell to specific neuron type in forebrain	The commitment of neuronal precursor cells to become specialized types of neurons in the forebrain.
definitive hemopoiesis	A second wave of blood cell production that, in vertebrates, generates long-term hemopoietic stem cells that continously provide erythroid, myeloid and lymphoid lineages throughout adulthood.
embryonic placenta development	The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
eosinophil fate commitment	The process in which the developmental fate of a cell becomes restricted such that it will develop into a eosinophil cell. A eosinophil is any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin.
GABAergic neuron differentiation	The process in which a neuroblast acquires the specialized structural and functional features of a GABAergic neuron.
glandular epithelial cell maturation	The developmental process, independent of morphogenetic (shape) change, that is required for a glandular epithelial cell to attain its fully functional state. A glandular epithelial cell is a columnar/cuboidal epithelial cell is a cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland.
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
hematopoietic stem cell homeostasis	Any biological process involved in the maintenance of the steady-state number of hematopoietic stem cells within a population of cells.
homeostasis of number of cells within a tissue	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue.
inner ear morphogenesis	The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively.
negative regulation of brown fat cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of brown fat cell differentiation.
negative regulation of endothelial cell apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process.
negative regulation of fat cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.
negative regulation of fat cell proliferation	Any process that stops or decreases the rate or extent of fat cell proliferation.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of hematopoietic progenitor cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation.
negative regulation of macrophage differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation.
negative regulation of neural precursor cell proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of neural precursor cell proliferation.
negative regulation of Notch signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
neural precursor cell proliferation	The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
phagocytosis	A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of blood vessel endothelial cell migration	Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	Any process that activates or increases the frequency, rate or extent of blood vessel endothelial cell proliferation involved in sprouting angiogenesis.
positive regulation of cell migration involved in sprouting angiogenesis	Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of erythrocyte differentiation	Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of mast cell degranulation	Any process that activates or increases the frequency, rate or extent of mast cell degranulation.
positive regulation of megakaryocyte differentiation	Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation.
positive regulation of miRNA transcription	Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription.
positive regulation of neuron differentiation	Any process that activates or increases the frequency, rate or extent of neuron differentiation.
positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.
positive regulation of phagocytosis, engulfment	Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of forebrain neuron differentiation	Any process that modulates the frequency, rate or extent of forebrain neuron differentiation.
regulation of histone acetylation	Any process that modulates the frequency, rate or extent of the addition of an acetyl group to a histone protein.
regulation of primitive erythrocyte differentiation	Any process that modulates the rate, frequency, or extent of primitive erythrocyte differentiation. Primitive erythrocyte differentiation occurs as part of the process of primitive hemopoiesis.
response to lipid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus.
semicircular canal development	The progression of the semicircular canal from its initial formation to the mature structure.
somatic stem cell population maintenance	Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line.
thyroid-stimulating hormone-secreting cell differentiation	The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a thyroid-stimulating hormone-secreting cell. A thyroid-stimulating hormone-secreting cell is a basophil cell of the anterior pituitary that produces thyroid-stimulating hormone, thyrotrophin.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
urogenital system development	The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure.
vascular wound healing	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature.
ventral spinal cord interneuron differentiation	The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of ventral spinal cord interneurons. Ventral spinal cord interneurons are cells located in the ventral portion of the spinal cord that transmit signals between sensory and motor neurons and are required for reflexive responses. Differentiation includes the processes involved in commitment of a cell to a specific fate.

18 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O09100	Gata2	Endothelial transcription factor GATA-2	Mus musculus (Mouse)	PR
Q942A1	RR4	Two-component response regulator ORR4	Oryza sativa subsp japonica (Rice)	PR
Q6H468	RR11	Two-component response regulator ORR11	Oryza sativa subsp japonica (Rice)	PR
Q0PVB3	RR7	Two-component response regulator ORR7	Oryza sativa subsp japonica (Rice)	PR
Q7Y0W5	EHD1	Two-component response regulator ORR30	Oryza sativa subsp japonica (Rice)	PR
Q9ZWS9	ARR3	Two-component response regulator ARR3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FXD6	ARR11	Two-component response regulator ARR11	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SKN6	GATA13	Putative GATA transcription factor 13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LT45	GATA29	GATA transcription factor 29	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SB04	ARR5	Two-component response regulator ARR5	Arabidopsis thaliana (Mouse-ear cress)	PR
O80366	ARR9	Two-component response regulator ARR9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6LA43	APRR2	Two-component response regulator-like APRR2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8L4M6	GATA3	GATA transcription factor 3	Arabidopsis thaliana (Mouse-ear cress)	PR
O65515	GATA7	GATA transcription factor 7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q93WK5	APRR7	Two-component response regulator-like APRR7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FJ16	APRR4	Putative two-component response regulator-like APRR4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LVG4	APRR3	Two-component response regulator-like APRR3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LKL2	APRR1	Two-component response regulator-like APRR1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEVAPEQPRW	MAHPAVLNAQ	HPDSHHPGLA	HNYMEPAQLL	PPDEVDVFFN	HLDSQGNPYY
70	80	90	100	110	120
ANPAHARARV	SYSPAHARLT	GGQMCRPHLL	HSPGLPWLDG	GKAALSAAAA	HHHNPWTVSP
130	140	150	160	170	180
FSKTPLHPSA	AGGPGGPLSV	YPGAGGGSGG	GSGSSVASLT	PTAAHSGSHL	FGFPPTPPKE
190	200	210	220	230	240
VSPDPSTTGA	ASPASSSAGG	SAARGEDKDG	VKYQVSLTES	MKMESGSPLR	PGLATMGTQP
250	260	270	280	290	300
ATHHPIPTYP	SYVPAAAHDY	SSGLFHPGGF	LGGPASSFTP	KQRSKARSCS	EGRECVNCGA
310	320	330	340	350	360
TATPLWRRDG	TGHYLCNACG	LYHKMNGQNR	PLIKPKRRLS	AARRAGTCCA	NCQTTTTTLW
370	380	390	400	410	420
RRNANGDPVC	NACGLYYKLH	NVNRPLTMKK	EGIQTRNRKM	SNKSKKSKKG	AECFEELSKC
430	440	450	460	470
MQEKSSPFSA	AALAGHMAPV	GHLPPFSHSG	HILPTPTPIH	PSSSLSFGHP	HPSSMVTAMG