AiPD: Autoinhibited Protein Database

Q9NZC7

Gene name	WWOX (FOR, SDR41C1, WOX1)
Protein name	WW domain-containing oxidoreductase
Names	Fragile site FRA16D oxidoreductase, Short chain dehydrogenase/reductase family 41C member 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51741
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (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

2 structures for Q9NZC7

Entry ID	Method	Resolution	Chain	Position	Source
1WMV	NMR	-	A	51-101	PDB
AF-Q9NZC7-F1	Predicted				AlphaFoldDB

721 variants for Q9NZC7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001064413 rs1336300148 CA396841738	3	A>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001764599 RCV000533127 rs1336300148 CA396841736	3	A>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1241157001 RCV000812755 CA396841741	3	A>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1239497096 RCV001197994	6	Y>H	Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinVar dbSNP
CA8182978 RCV001244041 rs781180473	10	D>H	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA396841785 RCV000805638 rs1597189624	11	D>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1567567249 CA396841793 RCV002286420 RCV000690341	12	T>R	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs770319919 RCV001070799 CA8182980	15	E>D	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP ClinGen ExAC gnomAD
RCV000157087 RCV001850176 rs730880291	16	D>missing	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinVar dbSNP
RCV000551267 rs991773402 RCV003153725 CA284502472	17	E>D	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000690342 CA396841832 rs776553279	18	L>M	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001341234 rs776553279 CA8182982	18	L>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002553761 rs761638116 RCV002481980 CA284502483 RCV003141985 RCV001053713	20	P>L	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001343112 rs763124571	27	T>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs771726317 RCV001059820 RCV002553872 RCV001760018 CA8182987	28	K>Q	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000230460 rs766309882 CA10583429	34	Y>C	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1385155926 CA396841951 RCV001207166 RCV002561245	36	N>D	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001056009 CA284515989 rs770653451	37	H>D	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1301923654 RCV001300161	40	E>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA8183025 RCV000692651 rs754384834	43	Q>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA16042955 RCV001850983 RCV000414691 rs1057517846	44	W>*	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000989639 rs1597207871 CA396842042	46	H>Y	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs730880292 VAR_072351 CA213108 RCV000157088	47	P>R	Developmental and epileptic encephalopathy, 28 DEE28 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_070992 rs587777128 CA150589 RCV000087049	47	P>T	Autosomal recessive spinocerebellar ataxia 12 SCAR12 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001228391 RCV002249816 rs2032292763	51	K>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA150822 COSM1379959 rs587777248 COSM1379960 RCV000824131 RCV000106406	54	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs775944673 RCV001318965	55	V>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs530912550 CA8183035 RCV000807035	56	A>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001206284 rs2032380473	58	D>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs771850922 RCV000684970 CA396842136	59	L>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8183079 RCV000415297 RCV001198241 rs759766243	61	Y>*	Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001253748 rs775696083	62	G>*	Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinVar dbSNP
CA8183080 rs775696083 RCV001208003	62	G>R	Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001759816 CA8183081 rs558101281 RCV001060587	65	Q>K	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000707012 rs1567575033 CA396842207	68	D>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2032382985 TCGA novel RCV001318171	68	D>Y	Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 1 [NCI-TCGA, ClinVar]	Yes	ClinVar NCI-TCGA dbSNP
RCV000521914 RCV000798699 RCV002527597 rs201008667 CA8183087	72	Q>*	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002554595 rs201008667 CA8183088 RCV001070124	72	Q>E	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs375002918 RCV001314008 CA8183126	78	H>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs751493396 RCV000810787 CA8183130	83	T>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000489268 rs757145186 CA8183131 RCV000650199	84	T>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16620273 rs990150249 RCV001221428 RCV000487411	85	Y>*	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001359029 RCV000996345 CA8183141 rs776969977	96	D>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1461547362 CA396842392 RCV001307270	96	D>N	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8183142 RCV000710288 RCV000248929 VAR_023916 RCV002243912 rs144601717 RCV000231056 RCV002243913	98	P>L	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs574637594 CA8183146 RCV000805431	101	P>A	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001057539 CA396842426 rs574637594	101	P>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001306130 rs2032705453	102	T>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs199625891 RCV002568673 CA8183152 RCV001247071	104	R>Q	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8183151 rs750226191 RCV001755886 RCV000545689	104	R>W	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001865564 rs747575799 RCV002527142 RCV000498814 CA8183156	108	D>N	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8183160 RCV001859279 rs770001837 RCV001330729	109	G>S	Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001313355 rs114755364	111	T>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001291668 RCV001697771 CA8183162 VAR_023917 RCV000544935 rs114755364	111	T>S	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 a Burkitt lymphoma cell line [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000764077 CA396842499 RCV000696611 rs761906386 RCV000658343	114	M>T	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA396842498 rs1402250109 RCV000802659	114	M>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1397160477 CA396842518 RCV000823840	117	L>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA249245 RCV000203040 RCV002243885 RCV000433686 VAR_023918 RCV001085443 rs141361080 RCV002243884	120	R>W	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 a primary colorectal tumor and a histiocytic lymphoma cell line [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000687332 CA8183172 rs576113059	121	D>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000559593 CA396842594 rs781732002	129	V>L	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs193027041 CA8183177 RCV001330929 RCV001507346 RCV000537303	136	I>V	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs761879076 RCV001229901	137	G>A	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA8183208 RCV002509417 rs761879076 RCV000512753 RCV000525795	137	G>E	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000785931 CA396841496 COSM704695 rs761879076	137	G>V	lung Developmental and epileptic encephalopathy, 28 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001302863 rs764089824	139	E>Q	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA284506164 RCV001313283 rs750464034	140	T>N	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8183213 rs369907002 RCV000493095 RCV001080385	141	A>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000472179 CA8183220 RCV003168819 rs188859796	147	H>R	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001171778 RCV001363796 rs746480783 CA8183219	147	H>Y	Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8183221 rs372660669 RCV000685513	148	G>A	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1024835941 RCV001222657	149	A>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA8183222 RCV003165875 RCV000701811 rs200820063	149	A>T	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001321900 rs1024835941 CA284506272	149	A>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001762571 RCV001341943 CA396841578 rs961514796	152	I>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8183226 rs140817689 RCV001081708 RCV000480602 RCV002244944 RCV002244945	156	R>S	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779724017 RCV000703157 CA284506353	161	A>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM3795156 rs369055872 COSM3795155 RCV001556445 RCV000696468 CA8183228	161	A>V	Variant assessed as Somatic; 0.0 impact. urinary_tract Developmental and epileptic encephalopathy, 1 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001218338 rs2034896161	164	A>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA8183230 RCV000699068 rs201228765 RCV002524085 RCV000498364 RCV001809451	167	R>C	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs758121265 RCV001227931 CA8183234	170	E>K	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8183236 RCV000490293 rs751181600 COSM1379965 COSM1379966	171	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine Autosomal recessive spinocerebellar ataxia 12 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs777272586 RCV001197407 CA284567498	173	H>Y	Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001340154 rs766451936 CA284567505	174	K>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8183322 RCV000524996 RCV001726237 RCV002483483 rs11545029	179	A>S	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002244643 RCV002244642 RCV002500910 RCV000253370 RCV001510592 RCV000989640 rs11545029 CA8183321 RCV000714211 VAR_023919	179	A>T	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs569297468 RCV001091761 CA8183324 RCV001212923	180	M>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001070350 rs2082072058	182	L>P	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA8183327 RCV002244645 RCV002244644 RCV000462619 rs74944733 RCV000245360	183	D>N	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753965511 RCV001049767 CA8183328	184	L>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001229924 rs772539448 CA8183333	186	L>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001542401 rs199511589 RCV003162978 RCV000650200 CA8183334	188	R>C	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001759975 RCV001048357 rs771163284 COSM2692588 CA8183336	188	R>H	Developmental and epileptic encephalopathy, 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001537501 CA8183335 rs199511589 RCV000458450 RCV000764078	188	R>S	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002525241 RCV000519802 rs776354746 RCV002525242 CA8183337	189	S>N	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs769400934 CA8183339 COSM973948 RCV001296533	190	V>L	endometrium Developmental and epileptic encephalopathy, 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000554456 COSM121058 RCV002530205 rs769400934 CA8183340	190	V>M	upper_aerodigestive_tract Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA396843961 RCV000688699 rs1567542020 RCV000760719	195	E>*	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000650206 CA8183345 rs370367979	196	A>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA396843971 rs754102799 RCV000812243	196	A>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001341820 rs200847456 RCV000489581 RCV002489193 CA8183347	197	F>L	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA396843980 RCV001300128 rs1199254958	198	K>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000797084 rs890212192 CA396843990	199	A>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA284567809 RCV002534448 RCV000705902 rs1011606866	200	K>R	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000794349 RCV001759496 CA8183350 RCV001816847 rs112636835	202	V>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001214343 CA284539950 rs866341813	204	L>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002244648 rs74860463 RCV002244649 RCV001086032 RCV000513720 CA8183386 RCV000253263	205	H>N	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001056798 rs770649734 CA8183388	205	H>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001359608 RCV000845066 CA8183394 rs767929766	210	N>S	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8183396 rs370737224 RCV001326400 COSM1379981 RCV001310339	211	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine Developmental and epileptic encephalopathy, 1 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs202006159 RCV000706104 RCV000499666 CA8183397	212	A>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753602303 CA8183398 RCV000692735	213	T>N	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1474238209 RCV001220197	214	F>Y	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001208705 CA396842741 rs1385370021 RCV002274146	216	L>P	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002244651 VAR_052323 RCV002244650 rs7201683 RCV000473650 RCV000244851 CA8183402	216	L>V	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs367599412 CA284540073 RCV001066742	219	S>N	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs982171635 RCV001230406 CA284540078	222	K>N	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs768734917 CA8183408 RCV000688729	223	D>N	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs376040091 RCV000522388 CA8183410 RCV000824069	225	L>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
CA396842810 RCV000696735 rs1567565338	228	T>P	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16608276 RCV000429648 RCV001865403 rs1057524749	230	Q>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001053956 RCV001759794 rs755974419 CA8183417	231	V>L	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8183419 rs757863128 RCV001751418 RCV001219343	233	H>N	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000989641 rs1597216056 RCV003117661	236	H>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs745681407 CA8183424 RCV000650194 RCV003140040	236	H>Q	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001327222 CA8183425 rs769589145 RCV002305599 CA284540184	237	F>L	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
RCV000650207 RCV001731672 RCV000442070 CA8183426 rs142806268	238	Y>C	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001253161 RCV001091762 rs2083042603	239	L>R	Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinVar dbSNP
CA8183427 RCV000540087 rs575080327	239	L>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs540386692 RCV001226831 CA8183431	241	Q>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs752354290 RCV001335818	244	Q>*	Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinVar dbSNP
COSM3691189 rs749277249 RCV000698733 CA8183437 RCV001507347	249	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine Developmental and epileptic encephalopathy, 1 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002487824 rs756703833 RCV002510989 RCV000819563 CA8183441	249	R>H	Variant assessed as Somatic; 0.0 impact. Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000523919 rs749277249 CA8183438 RCV001853656	249	R>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs368928190 RCV000413095 RCV002518924 COSM559312 CA8183444 RCV001385286	250	S>*	lung Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000656054 RCV002244884 rs75559202 RCV000435836 RCV001796043 RCV000460829 RCV002244885 CA8183447	252	P>A	Childhood epilepsy with centrotemporal spikes Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771068553 RCV001304108	253	A>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA396842950 rs896783193 RCV000817501	253	A>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001193911 rs1023419687 CA396842963 RCV000658284 RCV001038611	256	I>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA8183452 RCV001339951 RCV000489436 rs775895501	256	I>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA10583430 RCV000234306 rs878855021	260	S>*	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000486785 CA8183456 RCV000763386 RCV000229073 RCV002273998 rs756762196	264	R>*	Variant assessed as Somatic; 0.0 impact. Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001233173 rs2083245410	265	F>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA8183501 RCV001215184 rs758222414	271	S>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001080349 rs186745328 VAR_023920 RCV000443525 RCV001820753 CA8183503	272	L>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756228469 RCV001242345 CA8183504 RCV003156326	273	G>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8183505 rs372225190 RCV000692524	276	D>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA8183508 RCV000430448 rs77314072 RCV002243899 RCV000224551 RCV001084200 RCV002243900	279	R>C	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1567570252 CA396843129 RCV000694008	281	S>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001511255 VAR_023921 RCV002244653 RCV000249793 RCV002244652 rs3764340 CA8183512	282	P>A	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001233890 rs1037290766	283	T>A	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000554060 CA396843137 rs1186552961	283	T>K	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000532362 RCV000414593 CA16043024 RCV001591051 rs897453553	284	K>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001814273 rs1394607357 RCV001211320 RCV001091763	285	N>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000420839 rs374658336 RCV000704870 CA8183520	286	D>Y	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8183525 rs199809390 RCV001352209	290	M>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000547098 rs1035627222 CA284547249	290	M>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_023922 RCV000005513 rs119487098 RCV002298434 CA117326	291	L>P	Esophageal squamous cell carcinoma, somatic Developmental and epileptic encephalopathy, 1 found in a esophageal cancer sample; somatic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA8183529 rs376560613 RCV001342964	292	A>P	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376560613 CA8183528 RCV001039393	292	A>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8183534 RCV001069138 rs775585652	294	N>D	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1385421754 CA396843215 RCV000798333	296	S>C	Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA8183541 RCV000502667 RCV003137849 rs374541202 RCV000229679	300	N>D	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001349117 rs1860301714	300	N>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001048019 rs757597956 CA8183546	302	L>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001198240 rs1057518795 RCV001861445 RCV000415161	306	E>missing	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinVar dbSNP
RCV001344756 rs1326472012 CA396843275	306	E>K	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs200320711 RCV001227667 RCV001819926 CA8183551	307	L>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761545702 RCV000650202 CA8183554	309	R>C	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001507348 RCV000811407 rs193001955 CA8183557	310	R>C	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1455737775 CA396843304 RCV001059761	311	L>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8183560 RCV000503831 rs79399971 RCV001051189 RCV001576612	312	S>F	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001775974 RCV000700896 rs79399971 RCV000764079 CA8183561	312	S>Y	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8183562 RCV000457359 rs370345936	313	P>A	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781683643 RCV003142188 RCV001226929 CA8183565	314	R>C	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_023923 RCV002244654 RCV002244655 RCV000714217 RCV001082703 rs73572838 CA8183566 RCV000242986	314	R>H	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1493817 CA8183569 RCV000474451 rs768172617 RCV000808289 CA8183570	315	G>R	kidney Developmental and epileptic encephalopathy, 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001308317 rs768172617	315	G>W	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000556594 rs201941494 CA8183571	316	V>L	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001809762 RCV000696482 CA8183575 RCV001567822 rs770023814	318	S>L	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001753897 rs368670215 CA8183578 RCV000470287 RCV002523320 COSM1493815	320	A>T	kidney Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001300574 CA8183582 rs750797952	322	H>Q	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000232247 rs878855022 CA10583431 RCV001775702	322	H>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001868334 rs1567570468 RCV000714218 CA396843362	323	P>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001766407 CA396843381 rs748074874 CA8183588 RCV000650205	326	M>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000813690 rs371996496 CA8183587	326	M>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8183590 RCV000996346 RCV001858834 rs758307666	327	M>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000650196 CA8183593 RCV000656055 rs117209694 RCV000764080	330	N>K	Malignant tumor of esophagus Childhood epilepsy with centrotemporal spikes Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001330930 rs746833923 RCV001225932 CA8183592	330	N>S	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001335819 CA8183594 rs775584864 RCV000461317	332	H>P	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA396843417 rs923399366 RCV000545128	332	H>Y	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8183596 RCV001584553 rs184773837 RCV000685722	333	R>H	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000157086 rs730880290 CA185916	335	W>*	Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001203951 CA396843454 rs1170717426	337	V>A	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001552405 RCV000687652 CA8183602 rs201616456	341	L>M	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs781040616 RCV000823052 CA8183610	346	R>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000791853 CA396843506 rs200699154	347	P>A	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000764081 RCV000690150 RCV001542414 CA8183611 rs200699154	347	P>T	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001381454 rs1064795117 RCV000484968	348	F>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs768904294 CA8183612 RCV001346955	348	F>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA396843532 RCV001049109 rs1266850996	351	S>P	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs575317950 CA8183614 RCV001324729	352	M>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001295210 rs770155582 CA8183724	353	Q>K	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001315818 rs2051753978	355	G>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000429731 RCV000553103 CA8183728 rs767667847	356	A>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1555547940 CA396536963 RCV000650201	358	T>I	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000706593 CA396536958 rs1567624901	358	T>P	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200019508 RCV000650198 CA8183730 RCV003162977	360	V>M	Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001352381 rs2051754918	362	C>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
CA8183732 RCV001586144 rs778218106 RCV001351418	362	C>Y	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770628801 CA8183742 RCV001327899	370	G>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2051756247 RCV001232173	371	L>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000519379 CA396537070 RCV000703935 RCV002252153 rs587777127	372	G>*	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000650195 rs1064793798 CA16620275 RCV000480798	372	G>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA150588 RCV001091765 VAR_070993 RCV000087048 rs587777127	372	G>R	Autosomal recessive spinocerebellar ataxia 12 SCAR12 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs1400576596 RCV001349756	373	G>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000811373 rs769877812 CA396537079	373	G>V	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA396537100 rs1474278988 RCV001237882	376	F>L	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA8183749 rs377129275 RCV000650203 RCV003156275 CA396537114	377	N>K	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV001040848 rs2051758116	378	N>C	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000686392 CA8183757 rs758746365 RCV000658209	380	C>Y	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000437104 RCV001081219 RCV000224270 RCV002243897 rs200461412 RCV002243898 CA8183758	381	R>C	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001569721 CA8183759 rs202002431 RCV001252635 RCV000460537	381	R>H	Intellectual disability Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202002431 CA396537135 RCV000650204	381	R>L	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8183760 rs199585408 RCV001216959	382	C>Y	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001048983 rs2051759512	384	P>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs544760115 CA8183763 RCV000819051	384	P>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1351213477 CA396537175 RCV001227598	386	P>L	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1316600993 RCV001323944 CA396537180	387	E>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000476559 CA16615004 rs1060502729	388	A>P	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA396537192 rs1484856529 RCV001243203	389	Q>E	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000467962 CA8183770 RCV000688829 CA16615013 rs372635911	390	S>R	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs369959670 RCV001585939 RCV001040398 CA8183773	391	E>G	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000650208 rs375757102 CA8183771	391	E>K	Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs139253468 RCV001080806 RCV002523319 RCV000466359 CA8183777	393	T>M	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1064792969 RCV000464767	394	A>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
rs767286260 RCV000687773 COSM3377995 CA8183779 RCV002473105	394	A>T	pancreas Developmental and epileptic encephalopathy, 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA8183781 RCV001759520 RCV000799565 rs373148311	395	R>Q	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs375970162 CA284131625 RCV001247966	399	A>T	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV001057217 RCV000714204 RCV002532966 COSM271979 CA8183786 rs200815431	399	A>V	large_intestine Variant assessed as Somatic; 0.0003711 impact. Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA284131707 rs923748427 RCV001347310	402	E>D	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs200839945 RCV000552320 RCV000523943 CA8183792	402	E>K	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8183793 RCV002543095 rs200839945 RCV001302038	402	E>Q	Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396537307 RCV001040374 rs1197462916	406	Q>*	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001218845 rs767985798	406	Q>H	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000449583 RCV001223083 CA8183798 rs144234059	408	R>G	Global developmental delay Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8183800 RCV000691014 rs765857107 RCV002477554	408	R>Q	Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV003128810 RCV000807071 RCV000656056 rs144234059 COSM973967 CA8183799	408	R>W	endometrium Childhood epilepsy with centrotemporal spikes Developmental and epileptic encephalopathy, 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001815005 rs76204496 CA8183802 RCV001722560 RCV000650211	410	G>C	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000695511 rs770788315 RCV000415436	411	S>missing	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinVar dbSNP
CA8183808 rs117065412 RCV000530623	413	S>C	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002243908 rs117065412 RCV000427849 RCV002243909 CA8183807 RCV000234375 RCV000714206	413	S>Y	Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28 Autosomal recessive spinocerebellar ataxia 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2051765287 RCV001035387	414	G>missing	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000519792 rs201606637 CA8183811 RCV000545336	414	G>S	Developmental and epileptic encephalopathy, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396841730 rs1333186840	2	A>T		No	ClinGen gnomAD
CA396841739 rs1241157001	3	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751733610 CA8182975	4	L>V		No	ClinGen ExAC TOPMed gnomAD
rs868781395 CA284502448	6	Y>*		No	ClinGen gnomAD
rs1239497096 CA396841754	6	Y>D		No	ClinGen gnomAD
CA8182976 rs371392600	7	A>T	Variant assessed as Somatic; 0.0002446 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA284502458 rs892694486	7	A>V		No	ClinGen TOPMed
CA396841767 rs1255850892	8	G>A		No	ClinGen gnomAD
rs1255850892 CA396841768	8	G>V		No	ClinGen gnomAD
rs373146723 CA396841780	10	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477207924 CA396841777	10	D>G		No	ClinGen gnomAD
rs1597189631 CA396841790	12	T>A		No	ClinGen Ensembl
CA396841801 rs1173654721	13	D>E		No	ClinGen TOPMed gnomAD
rs1315934801 CA396841812	15	E>Q		No	ClinGen TOPMed
CA8182981 rs780345312	17	E>K		No	ClinGen ExAC TOPMed gnomAD
CA396841841 rs1368630303	19	P>L		No	ClinGen TOPMed
rs1448711490 CA396841838	19	P>S		No	ClinGen gnomAD
rs768240338 CA8182983	20	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1304203760 CA396841849	21	G>D		No	ClinGen TOPMed gnomAD
rs1304203760 CA396841851	21	G>V		No	ClinGen TOPMed gnomAD
rs979241689 CA284502496	22	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA396841857 rs1231403909	22	W>C		No	ClinGen gnomAD
rs1255601873 CA396841874	24	E>D		No	ClinGen gnomAD
rs1256733742 CA396841892	27	T>N		No	ClinGen gnomAD
rs771726317 CA396841895	28	K>E		No	ClinGen ExAC TOPMed gnomAD
rs866055540 CA396841914	30	G>A		No	ClinGen TOPMed gnomAD
CA284502537 rs866055540	30	G>D		No	ClinGen TOPMed gnomAD
rs1268902626 CA396841911	30	G>R		No	ClinGen gnomAD
CA396841922 rs1466999821	31	W>C		No	ClinGen gnomAD
CA396841919 rs1373275419	31	W>S		No	ClinGen TOPMed gnomAD
rs1168182894 CA396841928	32	V>A		No	ClinGen gnomAD
CA8182990 rs766309882	34	Y>F		No	ClinGen ExAC gnomAD
rs1369873372 CA396841948	35	A>V		No	ClinGen gnomAD
CA396841955 rs1316489119	36	N>I		No	ClinGen TOPMed gnomAD
rs1316489119 CA396841953	36	N>T		No	ClinGen TOPMed gnomAD
rs377106054 CA8183020	39	E>K		No	ClinGen ESP ExAC gnomAD
CA8183023 rs756238528	40	E>D		No	ClinGen ExAC gnomAD
rs778346490 CA8183022	40	E>G		No	ClinGen ExAC TOPMed gnomAD
CA396842010 rs1567574125	41	K>M		No	ClinGen Ensembl
CA8183024 rs766327203	41	K>N		No	ClinGen ExAC gnomAD
rs1284883505 CA396842020	43	Q>*		No	ClinGen gnomAD
rs1555535072 CA396842030 RCV000578713	44	W>*		No	ClinGen ClinVar Ensembl dbSNP
CA284516082 rs11648112	45	E>D		No	ClinGen Ensembl
CA8183028 rs748492637	48	K>N		No	ClinGen ExAC gnomAD
rs1447043946 CA396842057	48	K>R		No	ClinGen TOPMed
rs1441635300 CA396842074	51	K>E		No	ClinGen gnomAD
rs777592356 CA8183030	52	R>G		No	ClinGen ExAC gnomAD
CA284516156 rs543154053	54	R>P		No	ClinGen 1000Genomes TOPMed
CA284516152 rs543154053	54	R>Q		No	ClinGen 1000Genomes TOPMed
CA8183033 rs775944673	55	V>A		No	ClinGen ExAC TOPMed gnomAD
CA396842097 rs1415207243	55	V>M		No	ClinGen gnomAD
CA8183034 rs745874791	56	A>T		No	ClinGen ExAC gnomAD
CA284516180 rs938134435	57	G>A		No	ClinGen Ensembl
rs1131691285 CA396842111 RCV000493734	58	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1227086156 CA396842150	61	Y>C		No	ClinGen TOPMed
rs1309675914 CA396842147	61	Y>H		No	ClinGen TOPMed
CA396842169 rs1265607632	63	W>*		No	ClinGen gnomAD
CA396842170 rs1487518705	64	E>K		No	ClinGen gnomAD
rs764476113 CA8183082	66	E>*		No	ClinGen ExAC gnomAD
CA396842199 rs752003995	67	T>I		No	ClinGen ExAC gnomAD
CA8183083 rs752003995	67	T>S		No	ClinGen ExAC gnomAD
rs753278958 CA284517818	69	E>D		No	ClinGen Ensembl
CA396842225 rs762102064	70	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1161954515 CA396842220	70	N>Y		No	ClinGen gnomAD
CA396842228 rs1160144967	71	G>E		No	ClinGen gnomAD
CA8183085 rs767880120	71	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8183089 rs753318636	72	Q>R		No	ClinGen ExAC gnomAD
rs778738934 CA8183091	73	V>A		No	ClinGen ExAC gnomAD
CA8183094 rs777569118	77	D>H		No	ClinGen ExAC TOPMed
CA396842264 rs777569118	77	D>N		No	ClinGen ExAC TOPMed
rs375002918 CA8183127	78	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA396842290 rs1207889604	79	I>V		No	ClinGen TOPMed
rs758306601 CA8183128	80	N>S		No	ClinGen ExAC gnomAD
rs764100719 CA8183129	81	K>N		No	ClinGen ExAC gnomAD
CA396842313 rs1231571786	82	R>T		No	ClinGen gnomAD
CA396842325 rs757145186	84	T>N		No	ClinGen ExAC TOPMed gnomAD
CA8183132 rs781063964	85	Y>D		No	ClinGen ExAC gnomAD
CA396842333 rs752318699	86	L>M		No	ClinGen gnomAD
rs752318699 CA284523051	86	L>V		No	ClinGen gnomAD
CA8183133 rs368902462 CA396842344	87	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA396842340 rs1256716938	87	D>H		No	ClinGen gnomAD
CA284523052 rs914653066	87	D>V		No	ClinGen Ensembl
CA396842348 rs200371768	88	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8183135 rs200371768	88	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA284523064 rs372362643	88	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA8183136 rs537622221	90	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA396842360 rs1597218025	91	A>T		No	ClinGen Ensembl
CA8183137 rs772094826	91	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1478677649 CA396842374	93	T>A		No	ClinGen gnomAD
CA284523094 rs967976324	94	V>M		No	ClinGen TOPMed gnomAD
CA396842384 rs1454546205	95	D>Y		No	ClinGen gnomAD
CA396842405 rs1393177494	97	N>K		No	ClinGen gnomAD
CA396842408 rs1403389679	98	P>A		No	ClinGen gnomAD
CA396842407 rs1403389679	98	P>T		No	ClinGen gnomAD
rs373144603 CA8183144	99	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	100	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751546729 CA8183147	101	P>L		No	ClinGen ExAC gnomAD
CA8183149 rs767476600	103	T>I		No	ClinGen ExAC gnomAD
CA396842440 rs750226191	104	R>G		No	ClinGen ExAC TOPMed gnomAD
CA396842449 rs752822745	105	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1597218160 CA396842446	105	Q>P		No	ClinGen Ensembl
CA396842457 rs1207219847	106	R>S		No	ClinGen TOPMed
CA396842464 rs373306276 CA8183155	107	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA396842467 rs771426542	108	D>A		No	ClinGen ExAC gnomAD
rs377442022 CA8183159	108	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA396842468 rs771426542	108	D>G		No	ClinGen ExAC gnomAD
rs771426542 CA8183157	108	D>V		No	ClinGen ExAC gnomAD
rs1231447106 CA396842472	109	G>D		No	ClinGen TOPMed
CA8183161 rs775236397	110	S>N		No	ClinGen ExAC
CA8183163 rs376308619	112	T>A		No	ClinGen ESP ExAC gnomAD
CA284523204 rs761133406	112	T>N		No	ClinGen Ensembl
CA8183164 rs376308619	112	T>P		No	ClinGen ESP ExAC gnomAD
CA396842491 rs1361349436	113	A>S		No	ClinGen gnomAD
TCGA novel	113	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8183166 rs767542064	114	M>I		No	ClinGen ExAC gnomAD
rs761906386 CA8183165	114	M>K		No	ClinGen ExAC TOPMed gnomAD
CA396842496 rs1402250109	114	M>L		No	ClinGen gnomAD
rs1397160477 CA396842520	117	L>F		No	ClinGen gnomAD
CA396842530 rs1244527340	118	Q>H		No	ClinGen gnomAD
CA8183170 rs752982374	118	Q>P		No	ClinGen ExAC gnomAD
CA396842539 rs1355355411	120	R>P		No	ClinGen TOPMed gnomAD
CA396842538 rs1355355411	120	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	124	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM175757 CA396842572 rs1171053317 COSM175758	125	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1253985777 CA396842586	127	V>A		No	ClinGen gnomAD
rs1183597678 CA396842582	127	V>I		No	ClinGen gnomAD
CA8183175 rs781732002	129	V>I		No	ClinGen ExAC gnomAD
CA396842604 rs1184195820	130	T>I		No	ClinGen TOPMed
CA396842599 rs1412480979	130	T>P		No	ClinGen TOPMed
CA284523264 rs374343152	131	G>E		No	ClinGen ESP TOPMed
rs895495868 CA284523269	132	A>P		No	ClinGen gnomAD
rs895495868 CA396842610	132	A>T		No	ClinGen gnomAD
CA284523273 rs376284070	133	N>H		No	ClinGen Ensembl
rs746317044 CA8183176	134	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	135	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157147337 CA396842637	136	I>T		No	ClinGen gnomAD
rs1345035425 TCGA novel CA396842640	137	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA396841501 rs1426341113	138	F>S		No	ClinGen gnomAD
COSM278148 COSM278147 CA284506161 rs764089824	139	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA8183210 rs750464034	140	T>I		No	ClinGen ExAC TOPMed gnomAD
rs990349398 CA284506214	141	A>G		No	ClinGen Ensembl
rs369907002 CA396841516	141	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8183214 rs369907002	141	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8183215 rs779363543	142	K>E		No	ClinGen ExAC gnomAD
rs752456200 CA8183216	142	K>T		No	ClinGen ExAC gnomAD
CA396841527 rs1597292397	143	S>P		No	ClinGen Ensembl
TCGA novel	144	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337319906 CA396841541	145	A>S		No	ClinGen gnomAD
CA396841549 rs1212903851	146	L>P		No	ClinGen gnomAD
CA284506259 rs188859796	147	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396841559 rs372660669	148	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA396841560 rs372660669	148	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA396841568 rs745453076	150	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA284506273 rs745453076	150	H>P		No	ClinGen TOPMed
CA284506275 rs745453076	150	H>R		No	ClinGen TOPMed
rs961514796 CA284506292 COSM1315963 COSM1315962	152	I>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA284506297 rs2303192	152	I>T		No	ClinGen Ensembl
CA396841594 rs1431204869	154	A>V		No	ClinGen TOPMed
rs762160377 CA8183225	155	C>S		No	ClinGen ExAC
CA396841619 rs1364492750	158	M>K		No	ClinGen gnomAD
CA396841617 rs1161295855	158	M>V		No	ClinGen TOPMed gnomAD
rs2034894480 RCV001310338	159	A>G		No	ClinVar dbSNP
CA396841633 rs1400417039	160	R>K		No	ClinGen gnomAD
rs369055872 CA396841640	161	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA396841641 rs369055872	161	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA396841650 rs1380054817	163	E>K		No	ClinGen gnomAD
rs1289872115 CA396841669	165	V>A		No	ClinGen gnomAD
CA8183231 rs377356629 COSM1192690 COSM1192691	167	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA396841681 rs1244151968	168	I>V		No	ClinGen TOPMed
rs537273647 CA8183232	169	L>*		No	ClinGen 1000Genomes ExAC gnomAD
rs758121265 CA8183235	170	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8183237 rs756722806	172	W>R		No	ClinGen ExAC TOPMed gnomAD
CA396843833 rs777272586	173	H>N		No	ClinGen TOPMed gnomAD
rs770595933 CA8183316	173	H>R		No	ClinGen ExAC gnomAD
TCGA novel	175	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1131691324 RCV000493764 CA396843851	175	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs759121314 CA8183318	176	K>N		No	ClinGen ExAC gnomAD
CA8183319 rs764588235	178	E>G		No	ClinGen ExAC gnomAD
rs11545029 CA396843872	179	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8183323 rs764043513	179	A>V		No	ClinGen ExAC gnomAD
TCGA novel	180	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8183325 rs756339242	181	T>I		No	ClinGen ExAC gnomAD
CA284567581 rs756921125	182	L>V		No	ClinGen gnomAD
rs1233702304 CA396843897	183	D>E		No	ClinGen gnomAD
rs1175680739 CA396843903	184	L>R		No	ClinGen gnomAD
CA396843900 rs753965511	184	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8183331 rs778951309	185	A>T		No	ClinGen ExAC gnomAD
rs776354746 CA396843926	189	S>T		No	ClinGen ExAC TOPMed gnomAD
rs945231997 CA284567718	190	V>E		No	ClinGen Ensembl
rs763021754 CA8183341	191	Q>*		No	ClinGen ExAC gnomAD
rs1267634962 CA396843939	191	Q>H		No	ClinGen TOPMed
rs763021754 CA396843933	191	Q>K		No	ClinGen ExAC gnomAD
rs1406467436 CA396843935	191	Q>R		No	ClinGen gnomAD
CA8183342 rs764098667	192	H>R		No	ClinGen ExAC gnomAD
CA396843959 rs1273866839	194	A>G		No	ClinGen gnomAD
rs761696783 CA8183344	194	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8183346 rs754102799	196	A>G		No	ClinGen ExAC gnomAD
TCGA novel	197	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577414279 CA284567773	198	K>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA396843982 rs577414279	198	K>T		No	ClinGen 1000Genomes gnomAD
CA284567787 rs890212192	199	A>D		No	ClinGen Ensembl
CA396843987 rs1344030306	199	A>S		No	ClinGen TOPMed
rs1421094387 CA396844004	201	N>K		No	ClinGen gnomAD
CA284567818 rs1023381215	201	N>Y		No	ClinGen TOPMed
rs765341902 CA8183349	202	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	203	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405481740 CA396842671	203	P>L		No	ClinGen gnomAD
TCGA novel	204	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866341813 CA396842672	204	L>V		No	ClinGen gnomAD
rs74860463 CA8183387	205	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770649734 CA8183389	205	H>L		No	ClinGen ExAC gnomAD
rs763152209 CA8183390	206	V>M		No	ClinGen ExAC gnomAD
CA396842711 rs547619401	210	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1264231436 CA396842716	211	A>G		No	ClinGen gnomAD
TCGA novel	212	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753602303 CA8183399	213	T>S		No	ClinGen ExAC gnomAD
rs1474238209 CA396842732	214	F>S		No	ClinGen TOPMed
CA8183400 rs377191055	215	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs377191055 CA8183401	215	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs777579075 CA8183403	217	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1597215899 CA396842758	219	S>G		No	ClinGen Ensembl
CA396842764 rs770774574	220	L>F		No	ClinGen ExAC gnomAD
rs770774574 CA396842765	220	L>I		No	ClinGen ExAC gnomAD
CA8183406 rs776409839	220	L>P		No	ClinGen ExAC gnomAD
CA8183405 rs770774574	220	L>V		No	ClinGen ExAC gnomAD
CA396842787 rs72549408	223	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396842784 rs1392246150	223	D>V		No	ClinGen gnomAD
CA396842792 rs1409537902	224	G>D		No	ClinGen gnomAD
rs1349025177 CA396842788	224	G>S		No	ClinGen TOPMed gnomAD
rs1409537902 CA396842791	224	G>V		No	ClinGen gnomAD
rs750905852 CA396842803	226	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8183411 rs767565166	226	E>Q		No	ClinGen ExAC gnomAD
rs368401081 CA284540097	227	T>S		No	ClinGen ESP TOPMed
rs761250135 CA8183413	228	T>I		No	ClinGen ExAC TOPMed gnomAD
rs761250135 CA396842814	228	T>S		No	ClinGen ExAC TOPMed gnomAD
CA396842817 rs1254953065	229	F>V		No	ClinGen gnomAD
CA8183415 rs372408512	230	Q>H		No	ClinGen ESP ExAC gnomAD
CA8183414 rs199628364	230	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA396842830 rs1207742970	231	V>E		No	ClinGen gnomAD
CA396842828 rs755974419	231	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8183418 rs569529954	232	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA396842836 rs1199814060	232	N>T		No	ClinGen gnomAD
CA396842842 rs1266205670	233	H>L		No	ClinGen gnomAD
CA396842841 rs757863128	233	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs747021033 CA8183421	234	L>M		No	ClinGen ExAC TOPMed gnomAD
CA396842850 rs1462504812	234	L>R		No	ClinGen gnomAD
CA396842855 rs1169887175	235	G>V		No	ClinGen TOPMed gnomAD
CA284540174 rs781010507	236	H>N		No	ClinGen ExAC TOPMed gnomAD
CA8183423 rs781010507	236	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA8183428 rs575080327	239	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000413942 rs1057517847 CA16042999	240	V>F		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs191029309 CA396842890 CA396842889	241	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs540386692 CA396842884	241	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	241	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8183433 rs759826716	242	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396842902 rs752354290	244	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs752354290 CA8183435	244	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA284540212 rs1030035701	245	D>A		No	ClinGen TOPMed gnomAD
rs1209175040 CA396842915	245	D>E		No	ClinGen gnomAD
CA8183436 rs200966505	246	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396842916 rs1262275069	246	V>I		No	ClinGen gnomAD
CA284540236 rs749277249	249	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8183440 rs756703833	249	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8183439 rs756703833	249	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8183445 rs368928190	250	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA284540264 rs941156863	250	S>T		No	ClinGen TOPMed gnomAD
CA396842939 rs773518778	251	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8183446 rs773518778	251	A>T		No	ClinGen ExAC TOPMed gnomAD
CA284540274 rs896783193	253	A>T		No	ClinGen Ensembl
rs771068553 CA8183448	253	A>V		No	ClinGen ExAC gnomAD
CA8183449 COSM196558 rs369715848	254	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA396842955 rs760077691	254	R>H		No	ClinGen ExAC gnomAD
rs760077691 CA8183450	254	R>L		No	ClinGen ExAC gnomAD
CA396842956 rs760077691	254	R>P		No	ClinGen ExAC gnomAD
rs1243737794 CA396842960	255	V>A		No	ClinGen gnomAD
COSM218502 CA8183451 rs765590833	255	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8183453 rs762566029	256	I>M		No	ClinGen ExAC gnomAD
rs1023419687 CA284540302	256	I>V		No	ClinGen TOPMed
rs745399177 CA396842975	258	V>D		No	ClinGen Ensembl
CA284540309 rs745399177	258	V>G		No	ClinGen Ensembl
rs763754438 CA396842978	259	S>A		No	ClinGen ExAC gnomAD
rs1597216297 CA396842980	259	S>F		No	ClinGen Ensembl
rs763754438 CA8183454	259	S>T		No	ClinGen ExAC gnomAD
rs1464495960 CA396842991	261	E>G		No	ClinGen gnomAD
rs1246327184 CA396842988	261	E>Q		No	ClinGen gnomAD
CA396843009 rs756762196	264	R>G		No	ClinGen ExAC TOPMed gnomAD
CA284540362 rs982607423	264	R>Q		No	ClinGen TOPMed gnomAD
CA396843029 rs1180425119	265	F>C		No	ClinGen gnomAD
CA396843037 rs1567570180	266	T>I		No	ClinGen Ensembl
rs1466598115 CA396843041	267	D>G		No	ClinGen gnomAD
rs765750695 CA8183496	267	D>N		No	ClinGen ExAC gnomAD
rs765750695 COSM973956 CA396843039	267	D>Y	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA396843048 rs1202210719	268	I>N		No	ClinGen gnomAD
CA8183499 rs62034095	269	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA396843060 rs1461645631	270	D>H		No	ClinGen TOPMed
CA396843089 rs1192944898	274	K>N		No	ClinGen TOPMed
rs1213814231 CA396843096	276	D>N		No	ClinGen TOPMed
CA8183507 rs755444813	277	F>L		No	ClinGen ExAC TOPMed gnomAD
rs200278119 CA8183506	277	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1249327162 CA396843109	278	S>R		No	ClinGen TOPMed
rs1344635726 CA396843113	278	S>T		No	ClinGen gnomAD
rs748534396 CA8183509	279	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA284547203 rs1000079161	280	L>V		No	ClinGen TOPMed
rs770542796 CA8183513	282	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770542796 CA284547214	282	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs770542796 CA396843134	282	P>R		No	ClinGen ExAC TOPMed gnomAD
CA284547223 rs1037290766	283	T>P		No	ClinGen Ensembl
CA396843138 rs1186552961	283	T>R		No	ClinGen TOPMed gnomAD
CA396843141 rs1447332028	284	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775532586 CA8183517	285	N>D		No	ClinGen ExAC gnomAD
CA396843152 rs767903006 CA396843151	285	N>K		No	ClinGen ExAC TOPMed gnomAD
rs762842659 CA8183518	285	N>T		No	ClinGen ExAC gnomAD
TCGA novel	285	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396843157 rs1431354259	286	D>E		No	ClinGen gnomAD
rs374658336 CA8183521	286	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA16607094 rs374658336 RCV000428045	286	D>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8183522 rs369890118	287	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	288	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396843174 rs1367426673	289	A>T		No	ClinGen gnomAD
rs753894507 CA8183523	289	A>V		No	ClinGen ExAC gnomAD
CA396843187 rs1230337512	291	L>V		No	ClinGen gnomAD
rs1232615173 CA396843191	292	A>G		No	ClinGen TOPMed
rs376560613 CA8183527	292	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8183533 rs376488280	293	Y>C		No	ClinGen ESP ExAC gnomAD
CA8183532 rs376488280	293	Y>F		No	ClinGen ESP ExAC gnomAD
rs775585652 CA396843200	294	N>H		No	ClinGen ExAC TOPMed gnomAD
rs201417061 CA8183536	295	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs201417061 CA8183535	295	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA396843222 rs769246379	297	K>N		No	ClinGen TOPMed
CA8183538 rs766532492	297	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8183539 rs371364838	298	L>F		No	ClinGen ESP ExAC gnomAD
CA8183540 rs371364838	298	L>V		No	ClinGen ESP ExAC gnomAD
rs1401274705 CA396843231	299	C>Y		No	ClinGen gnomAD
CA8183543 rs758799029	301	I>M		No	ClinGen ExAC TOPMed gnomAD
CA396843248 rs1432918264	301	I>S		No	ClinGen gnomAD
CA396843250 rs757597956	302	L>V		No	ClinGen ExAC TOPMed gnomAD
CA396843267 rs1282842647	304	S>F		No	ClinGen gnomAD
CA8183550 CA396843274 rs201818301	305	N>K		No	ClinGen ExAC TOPMed gnomAD
CA396843272 rs1224888299	305	N>S		No	ClinGen gnomAD
CA396843279 rs1209166692	306	E>G		No	ClinGen TOPMed
CA396843288 rs1348582183	308	H>Y		No	ClinGen TOPMed
rs370792938 CA8183556	309	R>H		No	ClinGen ESP ExAC gnomAD
COSM3361915 CA396843297 rs370792938	309	R>L	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs761545702 CA8183555	309	R>S		No	ClinGen ExAC TOPMed gnomAD
rs765339835 CA8183558	310	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8183563 rs370345936	313	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781683643 CA8183564	314	R>G		No	ClinGen ExAC TOPMed gnomAD
rs73572838 CA8183567	314	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530883793 CA284547405	315	G>A		No	ClinGen gnomAD
rs530883793 CA396843319	315	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1476364680 CA396843323	316	V>A		No	ClinGen TOPMed
CA8183573 rs772959465	317	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770023814 CA8183576	318	S>W		No	ClinGen ExAC TOPMed gnomAD
CA8183579 rs774783221	321	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8183581 rs768037226	322	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	324	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8183584 rs766163069	324	G>E		No	ClinGen ExAC gnomAD
CA8183585 rs753464924	325	N>T		No	ClinGen ExAC gnomAD
rs371996496 CA396843378	326	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754460801 CA8183586	326	M>V		No	ClinGen ExAC gnomAD
rs1567570484 CA396843386	327	M>T		No	ClinGen Ensembl
CA396843382 rs1284411734	327	M>V		No	ClinGen gnomAD
CA396843394 rs1597077330	328	Y>C		No	ClinGen Ensembl
rs1273912627 CA396843403	329	S>F		No	ClinGen gnomAD
CA284547498 rs999552633	331	I>F		No	ClinGen Ensembl
CA284547502 rs923399366	332	H>D		No	ClinGen TOPMed gnomAD
rs369281766 CA8183595	333	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs768163615 CA8183598	336	W>C		No	ClinGen ExAC gnomAD
CA396843451 rs1450391213	337	V>L		No	ClinGen TOPMed gnomAD
CA396843450 rs1450391213	337	V>M		No	ClinGen TOPMed gnomAD
rs376672888 CA284547521	339	T>I		No	ClinGen ESP TOPMed
CA396843466 rs1429449710	339	T>S		No	ClinGen gnomAD
RCV000523778 CA8183600 rs761125565	340	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA284547522 rs976415963	340	L>V		No	ClinGen TOPMed
rs764702096 CA8183604	341	L>P		No	ClinGen ExAC gnomAD
CA396843472 rs201616456	341	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA396843481 CA396843482 rs1322358404	342	F>L		No	ClinGen TOPMed gnomAD
CA396843488 rs1213702410	343	T>I		No	ClinGen TOPMed
rs777688969 CA8183607	344	L>F		No	ClinGen ExAC gnomAD
rs746896545 CA396843498	345	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8183608 rs746896545	345	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	346	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396843507 rs200699154	347	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA16608286 RCV000437658 CA396843516 rs1057524658	348	F>L		No	ClinGen Ensembl ClinVar dbSNP
CA396843537 rs575317950	352	M>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	352	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA284131157 rs770155582	353	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA396536925 rs1459368049	353	Q>H		No	ClinGen gnomAD
CA8183725 rs769747074	353	Q>R		No	ClinGen ExAC gnomAD
rs775122564 CA8183726	354	Q>*		No	ClinGen ExAC gnomAD
CA8183727 rs762763326	354	Q>L		No	ClinGen ExAC
CA396536946 rs1436796387	356	A>V		No	ClinGen gnomAD
rs1293248727 CA396536952	357	A>T		No	ClinGen gnomAD
CA284131215 rs943387944	360	V>G		No	ClinGen TOPMed gnomAD
rs200019508 CA396536976 CA396536975	360	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368680750 CA396536989	361	Y>*		No	ClinGen ESP ExAC gnomAD
TCGA novel	362	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001091764 rs2051755132	363	A>P		No	ClinVar dbSNP
TCGA novel	367	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8183736 rs779384560	367	E>D		No	ClinGen ExAC gnomAD
CA396537044 rs1188884174	368	L>P		No	ClinGen gnomAD
CA8183739 rs777303637	369	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8183743 rs780816542	370	G>V		No	ClinGen ExAC gnomAD
CA8183744 rs745846599	371	L>Q		No	ClinGen ExAC gnomAD
CA396537071 rs1064793798	372	G>A		No	ClinGen TOPMed
rs769877812 CA8183745	373	G>E		No	ClinGen ExAC gnomAD
CA396537078 rs1400576596	373	G>W		No	ClinGen TOPMed
rs775460117 CA8183746 CA8183747	374	M>I		No	ClinGen ExAC gnomAD
TCGA novel	375	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417388410 CA396537106	376	F>L		No	ClinGen TOPMed
CA284131363 rs1042206916	377	N>D		No	ClinGen TOPMed
CA8183750 rs201970084	378	N>H		No	ClinGen ExAC gnomAD
rs201088847 CA8183754	378	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201901491 CA8183752	378	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8183751 rs201901491	378	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA284131376 rs201970084	378	N>Y		No	ClinGen ExAC gnomAD
rs1485008584 CA396537122	379	C>S		No	ClinGen gnomAD
rs753190801 CA8183756	379	C>W		No	ClinGen ExAC gnomAD
rs1485008584 CA396537121	379	C>Y		No	ClinGen gnomAD
CA284131481 rs200461412	381	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202002431 CA396537134	381	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM973963 rs200461412 CA284131482	381	R>S	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	382	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA284131483 rs746056495	382	C>G		No	ClinGen TOPMed gnomAD
CA396537139 rs746056495	382	C>R		No	ClinGen TOPMed gnomAD
rs1050696184 CA284131490	383	M>I		No	ClinGen TOPMed
rs1567625134 CA396537149	383	M>T		No	ClinGen Ensembl
rs1308501987 CA396537171	386	P>A		No	ClinGen TOPMed gnomAD
rs1351213477 CA396537174	386	P>R		No	ClinGen TOPMed gnomAD
rs779872977 CA8183765	387	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8183766 rs779872977	387	E>Q		No	ClinGen ExAC gnomAD
CA8183767 rs768403821	388	A>V		No	ClinGen ExAC gnomAD
CA396537193 rs1484856529	389	Q>*		No	ClinGen TOPMed gnomAD
rs1210812422 CA396537201	390	S>G		No	ClinGen gnomAD
rs375757102 CA396537206	391	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs375757102 CA8183772	391	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8183775 rs763482100	392	E>D		No	ClinGen ExAC gnomAD
CA396537215 rs1287638259	392	E>G		No	ClinGen TOPMed gnomAD
CA8183774 rs775926660	392	E>K		No	ClinGen ExAC gnomAD
CA396537212 rs775926660	392	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA284131520 rs139253468	393	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs533369122 CA8183776	393	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs767286260 CA284131580	394	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1300441861 CA396537226	394	A>V		No	ClinGen TOPMed
RCV001091766 rs2051761720	395	R>missing		No	ClinVar dbSNP
CA284131604 rs750042007	395	R>G		No	ClinGen ExAC TOPMed gnomAD
CA396537230 rs373148311	395	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs750042007 CA8183780	395	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM224510 CA396537239 rs1372691556	396	T>I	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA396537256 rs1233969979	398	W>C		No	ClinGen gnomAD
rs754922819 CA8183785	398	W>R		No	ClinGen ExAC gnomAD
rs200815431 CA284131638	399	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396537264 rs1250274322	400	L>V		No	ClinGen gnomAD
CA8183789 rs776896299	401	S>G		No	ClinGen ExAC gnomAD
rs201428060 CA8183791	401	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1191533699 CA396537274	401	S>T		No	ClinGen TOPMed
rs200839945 RCV000520674 CA396537277	402	E>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1555548036 RCV000521559	403	R>missing		No	ClinVar dbSNP
rs764726398 CA8183794 CA8183795	403	R>S		No	ClinGen ExAC gnomAD
rs762284404 CA8183796	405	I>S		No	ClinGen ExAC TOPMed gnomAD
CA8183782 rs749074781	406	Q>P		No	ClinGen ExAC
rs765857107 CA284131729	408	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8183801 rs368397011	409	L>P		No	ClinGen ESP ExAC gnomAD
CA8183804 rs754407642	410	G>A		No	ClinGen ExAC gnomAD
CA396537349 rs1369102097	411	S>R		No	ClinGen gnomAD
rs1297812511 CA396537346	411	S>T		No	ClinGen TOPMed
rs1443135051 CA396537351	412	Q>*		No	ClinGen TOPMed
rs1272866705 CA396537365	414	G>D		No	ClinGen gnomAD

4 associated diseases with Q9NZC7

[MIM: 133239]: Esophageal cancer (ESCR)

A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:11956080}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 614322]: Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12)

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with intellectual disability. Some patients may also show spasticity. {ECO:0000269|PubMed:24369382, ECO:0000269|PubMed:24456803}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 616211]: Developmental and epileptic encephalopathy 28 (DEE28)

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:25411445}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:11956080}. Note=The disease may be caused by variants affecting the gene represented in this entry.
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with intellectual disability. Some patients may also show spasticity. {ECO:0000269|PubMed:24369382, ECO:0000269|PubMed:24456803}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:25411445}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9NZC7

Type	Name	Position	InterPro Accession
domain	WW domain	16 - 49	IPR001202-1
domain	WW domain	57 - 90	IPR001202-2
domain	WWOX, classical (c)-like SDR domain	124 - 407	IPR042732

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Mitochondrion Golgi apparatus Lysosome	Partially localizes to the mitochondria (PubMed:14695174) Translocates to the nucleus upon genotoxic stress or TNF stimulation (By similarity) Translocates to the nucleus in response to TGFB1 (PubMed:19366691) Isoform 5 and isoform 6 may localize in the nucleus Localized to the lysosome probably upon binding to VOPP1 (PubMed:30285739)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.
RNA polymerase II transcription regulator complex	A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

4 GO annotations of molecular function

Name	Definition
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
identical protein binding	Binding to an identical protein or proteins.
oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

10 GO annotations of biological process

Name	Definition
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
extrinsic apoptotic signaling pathway	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered.
intrinsic apoptotic signaling pathway by p53 class mediator	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, and ends when the execution phase of apoptosis is triggered.
negative regulation of Wnt signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
positive regulation of extrinsic apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway.
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand.
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.
skeletal system morphogenesis	The process in which the anatomical structures of the skeleton are generated and organized.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53878	YNL181W	Uncharacterized oxidoreductase YNL181W	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9VLU5	Wwox	WW domain-containing oxidoreductase	Drosophila melanogaster (Fruit fly)	PR
P16152	CBR1	Carbonyl reductase [NADPH] 1	Homo sapiens (Human)	PR
O75828	CBR3	Carbonyl reductase [NADPH] 3	Homo sapiens (Human)	PR
A6NN90	C2orf81	Uncharacterized protein C2orf81	Homo sapiens (Human)	PR
Q9HBH5	RDH14	Retinol dehydrogenase 14	Homo sapiens (Human)	PR
Q8CEE7	Rdh13	Retinol dehydrogenase 13	Mus musculus (Mouse)	PR
Q9ERI6	Rdh14	Retinol dehydrogenase 14	Mus musculus (Mouse)	PR
Q9DAQ4		Uncharacterized protein C2orf81 homolog	Mus musculus (Mouse)	PR
Q91WL8	Wwox	WW domain-containing oxidoreductase	Mus musculus (Mouse)	PR
Q6AXP4		Uncharacterized protein C2orf81 homolog	Rattus norvegicus (Rat)	PR
A2RVM0	TIC32	Short-chain dehydrogenase TIC 32, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q803A8	wwox	WW domain-containing oxidoreductase	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAALRYAGLD	DTDSEDELPP	GWEERTTKDG	WVYYANHTEE	KTQWEHPKTG	KRKRVAGDLP
70	80	90	100	110	120
YGWEQETDEN	GQVFFVDHIN	KRTTYLDPRL	AFTVDDNPTK	PTTRQRYDGS	TTAMEILQGR
130	140	150	160	170	180
DFTGKVVVVT	GANSGIGFET	AKSFALHGAH	VILACRNMAR	ASEAVSRILE	EWHKAKVEAM
190	200	210	220	230	240
TLDLALLRSV	QHFAEAFKAK	NVPLHVLVCN	AATFALPWSL	TKDGLETTFQ	VNHLGHFYLV
250	260	270	280	290	300
QLLQDVLCRS	APARVIVVSS	ESHRFTDIND	SLGKLDFSRL	SPTKNDYWAM	LAYNRSKLCN
310	320	330	340	350	360
ILFSNELHRR	LSPRGVTSNA	VHPGNMMYSN	IHRSWWVYTL	LFTLARPFTK	SMQQGAATTV
370	380	390	400	410
YCAAVPELEG	LGGMYFNNCC	RCMPSPEAQS	EETARTLWAL	SERLIQERLG	SQSG