AiPD: Autoinhibited Protein Database

Q8TDD1

Gene name	DDX54
Protein name	ATP-dependent RNA helicase DDX54
Names	ATP-dependent RNA helicase DP97, DEAD box RNA helicase 97 kDa, DEAD box protein 54
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79039
EC number	3.6.4.13: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-75 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-75 (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

7 structures for Q8TDD1

Entry ID	Method	Resolution	Chain	Position	Source
8FKT	EM	281 A	NI	1-881	PDB
8FKU	EM	282 A	NI	1-881	PDB
8FKV	EM	247 A	NI	1-881	PDB
8FKW	EM	250 A	NI	1-881	PDB
8FKX	EM	259 A	NI	1-881	PDB
8FKY	EM	267 A	NI	1-881	PDB
AF-Q8TDD1-F1	Predicted				AlphaFoldDB

872 variants for Q8TDD1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001261680 RCV000853108 VAR_083615 rs774035439 CA6804158	20	W>R	Intellectual disability found in a patient with a neurodevelopmental disorder; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA6803932 RCV000853107 VAR_083616 RCV001261679 rs764707570	216	N>S	Intellectual disability found in a patient with a neurodevelopmental disorder; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs148961522 VAR_083617 RCV001261682 RCV000853110 CA6803861	286	V>M	Renal hypoplasia found in a patient with a neurodevelopmental disorder; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001261678 CA386839286 VAR_083618 rs1593005589 RCV000853106	298	L>F	Intellectual disability found in a patient with a neurodevelopmental disorder; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs754799242 CA6803666 RCV001263361	461	L>V	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_083619 RCV000853109 rs777276705 RCV001261681 CA6803477	611	R>Q	Intellectual disability found in a patient with a neurodevelopmental disorder; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA243776162 rs1050695140 RCV001263386	846	G>V	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2168854 CA386843090	3	A>D		No	ClinGen ExAC gnomAD
rs2168854 CA6804176	3	A>G		No	ClinGen ExAC gnomAD
CA6804177 rs202198989	3	A>T		No	ClinGen ExAC TOPMed gnomAD
rs2168854 CA243798493	3	A>V		No	ClinGen ExAC gnomAD
CA6804174 rs777730802	4	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6804171 rs752523847	5	K>N		No	ClinGen ExAC gnomAD
CA386843071 rs1289048308	5	K>Q		No	ClinGen TOPMed
rs756184748 CA6804172	5	K>R		No	ClinGen ExAC gnomAD
CA386843057 rs1282669596	6	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	6	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6804169 rs2290766	6	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6804170 rs2290766	6	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386843047 rs1362656947	7	P>L		No	ClinGen TOPMed gnomAD
rs1362656947 CA386843048	7	P>R		No	ClinGen TOPMed gnomAD
CA386843051 rs1260115855	7	P>S		No	ClinGen TOPMed
rs760989558 CA243798430	8	A>E		No	ClinGen TOPMed gnomAD
CA243798425 rs760989558	8	A>G		No	ClinGen TOPMed gnomAD
CA386843042 rs760989558	8	A>V		No	ClinGen TOPMed gnomAD
CA243798423 rs1000295980	9	A>G		No	ClinGen TOPMed gnomAD
rs1180534844 CA386843039	9	A>T		No	ClinGen TOPMed
rs965270817 CA243798402	10	G>R		No	ClinGen TOPMed gnomAD
rs1198032782 CA386843031	10	G>V		No	ClinGen gnomAD
rs1477973487 CA386843026	11	P>L		No	ClinGen gnomAD
rs1042064249 CA243798399	11	P>S		No	ClinGen Ensembl
rs1019727811 CA243798383	12	R>Q		No	ClinGen TOPMed gnomAD
CA386843024 rs1397525571	12	R>W		No	ClinGen TOPMed
rs141235407 CA6804164	14	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762250710 CA386843013	14	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762250710 CA6804163	14	R>P		No	ClinGen ExAC TOPMed gnomAD
CA386843008 rs1341013607	15	A>G		No	ClinGen TOPMed
rs768971239 CA6804160	16	A>G		No	ClinGen ExAC
CA386842996 rs1219301827	17	M>I		No	ClinGen gnomAD
CA386842999 rs1262632783	17	M>K		No	ClinGen gnomAD
rs545650175 CA243798347	17	M>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1364434299 CA386842993	18	A>T		No	ClinGen TOPMed gnomAD
rs1055555413 CA243798346	18	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386842983 rs1336516996	19	Q>H		No	ClinGen gnomAD
rs747399433 CA6804159	19	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs747399433 CA386842984	19	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs578209844 CA243798325	21	R>K		No	ClinGen 1000Genomes
CA243798323 rs796769844	24	K>E		No	ClinGen Ensembl
rs796977727 CA243798306	24	K>N		No	ClinGen Ensembl
CA243798317 rs770533974	24	K>R		No	ClinGen ExAC gnomAD
rs770533974 CA6804157	24	K>T		No	ClinGen ExAC gnomAD
TCGA novel	25	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243798304 rs937397530	27	R>G		No	ClinGen TOPMed gnomAD
CA243798302 rs899275088	27	R>L		No	ClinGen TOPMed
rs899275088 CA386842934	27	R>Q		No	ClinGen TOPMed
CA386842935 rs937397530	27	R>W		No	ClinGen TOPMed gnomAD
CA243798289 rs564977840	28	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564977840 CA6804156	28	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386842931 rs1185166020	28	K>R		No	ClinGen gnomAD
rs1242451201 CA386842924	29	R>C		No	ClinGen gnomAD
CA6804155 rs777203323	30	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6804153 rs543112680	31	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA386842910 rs1357285595	32	A>P		No	ClinGen gnomAD
rs1403866311 CA386842902	33	A>V		No	ClinGen TOPMed
CA386842894 rs1317672478	34	S>F		No	ClinGen TOPMed gnomAD
CA386842896 rs1317672478	34	S>Y		No	ClinGen TOPMed gnomAD
rs781307464 CA6804152	35	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA386842890 rs1360950869	35	Q>R		No	ClinGen TOPMed
CA386842885 rs772603808	36	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772603808 CA6804151	36	A>T		No	ClinGen ExAC TOPMed gnomAD
CA386842878 rs1444917019	37	R>H		No	ClinGen gnomAD
CA386842875 rs576006802	38	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576006802 CA6804150	38	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386842874 rs576006802	38	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386842869 rs1409049845	39	S>G		No	ClinGen gnomAD
rs766592096 CA6804148	39	S>T		No	ClinGen ExAC gnomAD
rs758607012 CA6804147	41	S>L		No	ClinGen ExAC TOPMed gnomAD
rs765235875 CA6804145	42	E>D		No	ClinGen ExAC gnomAD
rs750672319 CA6804146	42	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1481553074 CA386842843	43	D>H		No	ClinGen TOPMed gnomAD
CA386842844 rs1481553074	43	D>N		No	ClinGen TOPMed gnomAD
CA6804144 rs554240542	44	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386842814 rs1452471164	47	E>Q		No	ClinGen gnomAD
rs1294208789 CA386842804	48	I>N		No	ClinGen gnomAD
rs761073390 CA6804141	49	Q>L		No	ClinGen ExAC gnomAD
rs1593013008 CA386842790	50	A>E		No	ClinGen Ensembl
rs988095919 CA243798215	53	D>N		No	ClinGen TOPMed gnomAD
CA386842762 rs1371769379	54	A>S		No	ClinGen TOPMed gnomAD
rs1371769379 CA386842764	54	A>T		No	ClinGen TOPMed gnomAD
rs201849743 CA6804139	54	A>V		No	ClinGen ExAC TOPMed gnomAD
CA243798195 rs937332847	55	R>Q		No	ClinGen TOPMed
CA6804137 rs773000976	55	R>W		No	ClinGen ExAC TOPMed gnomAD
rs372534281 CA6804136	56	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386842749 rs1422312177	57	R>P		No	ClinGen gnomAD
rs1384117787 CA386842750	57	R>W		No	ClinGen TOPMed
rs1159526940 CA386842741	58	K>M		No	ClinGen gnomAD
rs1420861201 CA386842740	58	K>N		No	ClinGen TOPMed gnomAD
CA386842742 rs1159526940	58	K>R		No	ClinGen gnomAD
CA6804115 rs776347461	60	G>R		No	ClinGen ExAC gnomAD
CA6804114 rs768225552	61	P>L		No	ClinGen ExAC gnomAD
rs1566101295 CA386842208	64	P>H		No	ClinGen Ensembl
CA386842193 rs1356431162	66	P>S		No	ClinGen TOPMed
rs746854500 CA6804113	67	T>A		No	ClinGen ExAC gnomAD
CA386842180 rs1408179800	67	T>I		No	ClinGen gnomAD
rs780070623 CA6804112	68	F>L		No	ClinGen ExAC
CA386842165 rs1440288742	69	P>A		No	ClinGen TOPMed
rs776290978 CA243790788	70	T>I		No	ClinGen Ensembl
CA6804110 rs143700878	71	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386842107 rs1189447142	74	T>I		No	ClinGen Ensembl
rs576593689 CA6804107	75	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386842082 rs1593009667	77	V>M		No	ClinGen Ensembl
CA6804106 rs777776703	79	P>L		No	ClinGen ExAC TOPMed gnomAD
CA386842055 rs777776703	79	P>R		No	ClinGen ExAC TOPMed gnomAD
rs768093089 CA6804103	82	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199556550 CA6804104	82	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1203345647 CA386842025	83	E>K		No	ClinGen TOPMed
rs755277448 CA6804102	84	M>I		No	ClinGen ExAC gnomAD
CA386841996 rs1322237448	85	V>A		No	ClinGen gnomAD
CA6804101 CA6804100 rs543220332	85	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370179600 CA6804099	86	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370179600 CA386841991	86	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6804098 rs138759738	86	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA243790748 rs952118492	88	Q>*		No	ClinGen TOPMed gnomAD
CA243790744 rs369653706	90	K>*		No	ClinGen ESP TOPMed gnomAD
rs763470495 CA386841946	90	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6804096 rs760253511	91	K>E		No	ClinGen ExAC gnomAD
rs1334612317 CA386841935	91	K>N		No	ClinGen gnomAD
rs1360002337 CA386841938	91	K>R		No	ClinGen TOPMed
rs553091615 CA6804095	92	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA386841919 rs200220997	93	K>E		No	ClinGen 1000Genomes gnomAD
CA243790729 rs200220997	93	K>Q		No	ClinGen 1000Genomes gnomAD
CA386841886 rs1460704958	95	S>C		No	ClinGen TOPMed gnomAD
CA386841871 rs1372709525	97	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386841844 rs1393820698	99	Q>*		No	ClinGen TOPMed gnomAD
CA243790689 rs201124235	99	Q>H		No	ClinGen 1000Genomes gnomAD
rs745654861 CA6804091	99	Q>P		No	ClinGen ExAC gnomAD
CA6804090 rs115144721	100	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1438854895 CA386841822	101	M>I		No	ClinGen gnomAD
CA386841829 rs749448632	101	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6804088 rs749448632 COSM935386	101	M>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA386841815 rs1250662723	102	G>S		No	ClinGen gnomAD
rs1313621396 CA386841695	104	S>C		No	ClinGen TOPMed
CA386841693 rs140407337	104	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6804060 rs140407337	104	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386841686 rs1302982020	105	Y>C		No	ClinGen gnomAD
CA6804059 rs201533655	106	P>L		No	ClinGen ExAC TOPMed gnomAD
CA386841680 rs1401645343	106	P>S		No	ClinGen gnomAD
TCGA novel CA6804057 rs766990417	109	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA6804056 rs374054112	110	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA243790101 rs922246029	114	K>N		No	ClinGen Ensembl
TCGA novel	116	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6804053 rs200064512	117	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6804054 rs200064512	117	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1201654116 CA386841580	121	P>H		No	ClinGen TOPMed
CA386841581 rs549649767	121	P>S		No	ClinGen 1000Genomes gnomAD
rs549649767 CA243790084	121	P>T		No	ClinGen 1000Genomes gnomAD
CA386841536 rs1451039739	126	T>A		No	ClinGen gnomAD
CA6804028 rs369762348	128	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA386841518 rs1421184180	129	V>M		No	ClinGen gnomAD
TCGA novel	131	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149938686 CA6804025	135	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754693454 CA6804023	136	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754693454 CA6804022	136	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	137	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243789577 rs963481956	141	R>G		No	ClinGen Ensembl
rs1442657033 CA386841438	141	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs963481956 CA386841439 COSM201279	141	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA386841416 rs1205294048	144	S>R		No	ClinGen gnomAD
CA386841366 rs371214125	152	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6804018 rs371214125	152	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386841360 rs1360649813	153	P>S		No	ClinGen TOPMed gnomAD
CA386841351 rs1244478348	154	M>I		No	ClinGen TOPMed gnomAD
rs752571479 CA6804017	154	M>V		No	ClinGen ExAC TOPMed gnomAD
rs753750807 CA6804016	155	F>L		No	ClinGen ExAC gnomAD
CA243789558 rs561779172	155	F>L		No	ClinGen Ensembl
rs764395179 CA386841341	156	E>*		No	ClinGen ExAC TOPMed gnomAD
CA6804014 rs764395179	156	E>K		No	ClinGen ExAC TOPMed gnomAD
rs201119519 CA6804012	157	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs760920220 COSM379020 CA6804013	157	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6804011 rs767660701	161	H>P		No	ClinGen ExAC gnomAD
rs1035713042 CA243789527	161	H>Y		No	ClinGen TOPMed
rs1428650085 CA386841298	163	A>S		No	ClinGen TOPMed gnomAD
CA386841293 rs1365995260	163	A>V		No	ClinGen gnomAD
rs759559835 CA6804010	165	T>I		No	ClinGen ExAC gnomAD
CA386841280 rs759559835	165	T>S		No	ClinGen ExAC gnomAD
rs200060201 CA6804006	166	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6804005 rs770157400	166	G>V		No	ClinGen ExAC gnomAD
CA6804003 COSM935384 rs779703558	168	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6804002 rs757902653	168	R>H		No	ClinGen ExAC TOPMed gnomAD
rs139285972 CA386841264	169	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM268999 rs139285972 CA6804000	169	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1321719215 CA386841261	169	A>V		No	ClinGen gnomAD
rs1285584721 CA386841243	172	L>H		No	ClinGen TOPMed gnomAD
CA386841239 rs1365872276	173	S>A		No	ClinGen TOPMed
rs757197202 CA6803999	173	S>L		No	ClinGen ExAC TOPMed gnomAD
rs151173870 CA6803997	174	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345735205 CA386841226	175	T>I		No	ClinGen TOPMed gnomAD
rs767686054 CA6803994	176	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767686054 CA6803995	176	R>G		No	ClinGen ExAC gnomAD
rs753492060 CA6803993	176	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA243789413 rs534485915	178	L>M		No	ClinGen Ensembl
CA386841202 rs1223283418	180	L>P		No	ClinGen TOPMed
rs150825984 CA6803990	181	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1405930676 CA386841197	181	Q>R		No	ClinGen gnomAD
rs992734125 CA243789376	182	T>A		No	ClinGen TOPMed gnomAD
rs763312863 CA6803989	182	T>I		No	ClinGen ExAC TOPMed gnomAD
rs992734125 CA386841193	182	T>P		No	ClinGen TOPMed gnomAD
rs371223267 CA243789365	184	K>R		No	ClinGen ESP TOPMed gnomAD
rs773714092 CA6803988	185	F>L		No	ClinGen ExAC gnomAD
rs1197459117 CA386841166	186	T>S		No	ClinGen gnomAD
rs770104291 CA386841157	187	K>N		No	ClinGen ExAC TOPMed gnomAD
rs748560716 CA6803986	188	E>D		No	ClinGen ExAC gnomAD
CA6803963 rs748860214	190	G>D		No	ClinGen ExAC gnomAD
CA386841131 rs1465774480	190	G>R		No	ClinGen gnomAD
CA6803961 rs769920880	194	G>V		No	ClinGen ExAC gnomAD
CA386841073 rs1184782877	196	K>Q		No	ClinGen gnomAD
rs754809252 CA6803958	199	L>P		No	ClinGen ExAC TOPMed gnomAD
CA386841024 rs1245390436	200	I>L		No	ClinGen TOPMed gnomAD
rs1423458096 CA386841006	202	G>S		No	ClinGen TOPMed
rs1001029772 CA243789200	202	G>V		No	ClinGen TOPMed gnomAD
rs1206116590 CA386840973	204	D>E		No	ClinGen gnomAD
CA386840978 rs1251539022	204	D>G		No	ClinGen gnomAD
rs1482760348 CA386840980	204	D>N		No	ClinGen gnomAD
CA6803940 CA386840762 rs147130186	206	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6803939 rs377178791	207	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350086639 CA386840746	208	D>Y		No	ClinGen TOPMed gnomAD
CA6803937 rs557238279	209	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA243787975 rs868093316	210	F>C		No	ClinGen Ensembl
rs749952089 CA243787961	212	A>T		No	ClinGen gnomAD
rs746101608 CA6803936	212	A>V		No	ClinGen ExAC gnomAD
rs778893959 CA6803935	213	L>V		No	ClinGen ExAC gnomAD
CA6803933 rs754246194	215	E>K		No	ClinGen ExAC gnomAD
CA6803931 rs373033889	218	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423718018 CA386840646	221	I>T		No	ClinGen gnomAD
rs1367713975 CA386840633	223	T>M		No	ClinGen gnomAD
rs930376012 CA243787796	225	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6803910 rs767930663	226	R>Q		No	ClinGen ExAC gnomAD
rs1336790195 CA386840620	226	R>W	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1399600823 CA386840611	227	L>F		No	ClinGen gnomAD
rs755425333 CA6803909	228	V>G		No	ClinGen ExAC gnomAD
CA6803908 rs750049816	229	H>L		No	ClinGen ExAC gnomAD
CA386840590 rs1186634067	231	A>S		No	ClinGen gnomAD
rs1243880026 CA386840584	232	V>G		No	ClinGen gnomAD
CA6803906 rs761223083	232	V>M		No	ClinGen ExAC TOPMed gnomAD
rs79938419 CA243787780	233	E>G		No	ClinGen gnomAD
CA386840573 rs1440977244	234	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	238	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775992313 CA243787770	240	S>N		No	ClinGen TOPMed gnomAD
rs143973951 CA386840503	243	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803902 COSM3687973 rs775434731	244	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA386840486 rs1481670532	246	F>C		No	ClinGen TOPMed
rs774522718 CA386840484	246	F>L		No	ClinGen ExAC TOPMed gnomAD
CA386840478 rs1333117977	247	D>V		No	ClinGen gnomAD
CA386840463 rs749317730	249	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749317730 CA6803897	249	A>V		No	ClinGen ExAC TOPMed gnomAD
rs148809142 CA6803896	250	D>H		No	ClinGen ESP ExAC
rs568725654 CA6803894	251	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539428532 CA6803895	251	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1473733275 CA386840065	252	L>R		No	ClinGen gnomAD
CA6803878 rs367918878	258	A>T		No	ClinGen ESP ExAC gnomAD
rs1490621385 CA386839957	258	A>V		No	ClinGen TOPMed gnomAD
rs1248775929 CA386839934	260	Q>R		No	ClinGen gnomAD
rs913759011 CA243786883	263	E>D		No	ClinGen TOPMed gnomAD
CA386839892 rs1451518514	263	E>K		No	ClinGen gnomAD
CA6803877 rs769870069	264	I>F		No	ClinGen ExAC gnomAD
CA386839857 rs748287959	264	I>M		No	ClinGen ExAC TOPMed gnomAD
CA386839869 rs769870069	264	I>V		No	ClinGen ExAC gnomAD
CA6803874 rs558503951	266	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs202142459 CA6803873	267	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs199513483 CA6803872	267	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA386839817 rs202142459	267	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1017555686 CA243786858 CA386839775	270	G>R		No	ClinGen TOPMed gnomAD
rs1017555686 CA386839773	270	G>W		No	ClinGen TOPMed gnomAD
CA386839748 rs1480870203	271	G>A		No	ClinGen TOPMed gnomAD
CA386839750 rs1480870203	271	G>D		No	ClinGen TOPMed gnomAD
CA386839761 rs1158742897	271	G>S		No	ClinGen gnomAD
rs1329080799 CA386839732	272	H>P		No	ClinGen TOPMed
rs1302963758 CA386839737	272	H>Y		No	ClinGen TOPMed
CA6803867 rs755616326	273	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs752267731 CA6803866	273	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs767431337 CA6803865	274	T>M		No	ClinGen ExAC TOPMed gnomAD
CA386839686 rs1265652963	275	V>L		No	ClinGen TOPMed gnomAD
CA6803862 rs766162033	279	A>T		No	ClinGen ExAC gnomAD
rs1303224361 CA386839601	280	T>M		No	ClinGen gnomAD
CA386839501 rs1366567024	286	V>E		No	ClinGen gnomAD
TCGA novel	287	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803860 rs773462251	287	E>G		No	ClinGen ExAC gnomAD
TCGA novel	289	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803859 rs765419352	289	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6803857 rs776792739	290	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1358954 CA6803858 rs201173369	290	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA386839428 rs1593005726	291	A>G		No	ClinGen Ensembl
TCGA novel	292	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867936399 CA243786665	292	G>D		No	ClinGen TOPMed gnomAD
CA6803835 rs776030394	294	T>A		No	ClinGen ExAC TOPMed gnomAD
rs368229475 CA6803833	294	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803834 rs368229475	294	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310628897 CA386839319	295	E>G		No	ClinGen gnomAD
rs1310014639 CA386839305	296	P>L		No	ClinGen gnomAD
CA386839308 rs1351332692	296	P>S		No	ClinGen gnomAD
CA6803829 COSM935381 rs780849124	297	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6803827 rs543706972	300	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754462120 CA6803828	300	R>W		No	ClinGen ExAC gnomAD
rs1162079285 CA386839252	302	D>Y		No	ClinGen gnomAD
COSM1203275 rs375785871 CA6803825	303	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA386839232 rs1397768744	305	T>A		No	ClinGen TOPMed
rs866104141 CA386839221 CA243786618	306	K>N		No	ClinGen gnomAD
CA386839223 rs1183827199	306	K>R		No	ClinGen gnomAD
CA6803823 rs757139137	308	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1210402204 CA386839210	308	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6803820 rs764446517	309	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6803821 rs764446517	309	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1244162886 CA386839192	311	L>V		No	ClinGen gnomAD
CA243786481 rs376194749	313	T>I		No	ClinGen ESP TOPMed
rs1187577226 CA386838888	315	F>I		No	ClinGen TOPMed
CA6803789 rs548127700	315	F>S		No	ClinGen ExAC gnomAD
CA6803787 rs141996094	318	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386838839 rs199610294	319	R>G		No	ClinGen ExAC TOPMed gnomAD
CA386838834 rs1446437409	319	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199610294 CA6803786	319	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6803785 rs138817552	321	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs201695675 CA6803784	322	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6803783 rs778985433	325	A>S		No	ClinGen ExAC gnomAD
CA6803781 rs181760887	326	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	327	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803780 rs777641592	330	L>M		No	ClinGen ExAC gnomAD
rs544529809 CA243786429	332	H>R		No	ClinGen 1000Genomes
CA6803779 rs755970580	333	N>S		No	ClinGen ExAC
rs569471197 CA6803777	334	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569471197 CA6803776	334	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756827516 CA243786413	335	V>M		No	ClinGen gnomAD
CA386838674 rs1399854261	336	R>Q		No	ClinGen TOPMed gnomAD
CA243786411 rs866075362	336	R>W		No	ClinGen TOPMed gnomAD
CA6803775 rs751705122	337	P>A		No	ClinGen ExAC gnomAD
rs1307716199 CA386838655	338	Q>R		No	ClinGen TOPMed gnomAD
CA6803774 rs766858842	340	Q>L		No	ClinGen ExAC gnomAD
rs758846698 CA6803773	341	T>N		No	ClinGen ExAC gnomAD
CA6803770 rs762286710	342	V>A		No	ClinGen ExAC gnomAD
rs765468745 CA6803771	342	V>M		No	ClinGen ExAC gnomAD
CA6803767 rs554666224	343	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554666224 CA6803768	343	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773937634 CA6803766	344	F>L		No	ClinGen ExAC
rs770567522 CA6803764	347	T>A		No	ClinGen ExAC gnomAD
rs1273131342 CA386838587	347	T>M		No	ClinGen gnomAD
rs761111387 CA243786382	350	H>L		No	ClinGen gnomAD
CA243786377 rs200644907	350	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs761111387 CA386838566	350	H>R		No	ClinGen gnomAD
CA243786367 rs879618558	351	A>T		No	ClinGen gnomAD
rs1410226811 CA386838557	352	E>A		No	ClinGen gnomAD
CA386838556 rs1410226811	352	E>G		No	ClinGen gnomAD
rs369837410 CA6803761	352	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs147338699 CA6803759	353	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748018903 CA6803760	353	Y>D		No	ClinGen ExAC gnomAD
rs140924337 CA6803758	355	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA386838529 rs1414200941	355	T>I		No	ClinGen TOPMed
rs1325372394 CA386838204	358	L>Q		No	ClinGen gnomAD
rs549423905 CA6803745	359	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA386838196 rs1593004231	360	T>P		No	ClinGen Ensembl
CA386838180 COSM160384 rs566892085	362	R>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA6803742 rs566892085	362	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6803743 rs772995518	362	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747882420 CA6803741	363	V>E		No	ClinGen ExAC TOPMed
CA386838175 rs747882420	363	V>G		No	ClinGen ExAC TOPMed
rs768342619 CA6803739	366	A>T		No	ClinGen ExAC TOPMed gnomAD
CA243785323 rs866656278	366	A>V		No	ClinGen Ensembl
CA386838140 rs1006013762	368	I>M		No	ClinGen gnomAD
CA386838135 rs1214783046	369	Y>C		No	ClinGen TOPMed
rs750787516 CA243785314	370	S>N		No	ClinGen Ensembl
CA243785312 rs887614206	371	A>S		No	ClinGen Ensembl
CA6803737 rs201622713	374	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1271337936 CA386838106	374	P>T		No	ClinGen gnomAD
rs779274973 CA386838098	375	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779274973 CA6803734	375	T>R		No	ClinGen ExAC TOPMed gnomAD
rs757724538 CA6803733	376	A>T		No	ClinGen ExAC gnomAD
CA386838089 rs1276574718	377	R>C		No	ClinGen TOPMed gnomAD
rs1028379992 CA243785299	377	R>H		No	ClinGen TOPMed
rs1028379992 CA386838087	377	R>L		No	ClinGen TOPMed
CA243785295 rs993558928	380	N>S		No	ClinGen TOPMed gnomAD
rs371262722 CA386838057	382	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371262722 CA6803730	382	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs545237923 CA6803728	385	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM244000 CA386838023 rs1442262968	387	G>D	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	391	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386837982 rs1251903229	391	T>I		No	ClinGen gnomAD
rs750011642 CA243785272	392	L>I		No	ClinGen ExAC gnomAD
CA6803726 rs750011642	392	L>V		No	ClinGen ExAC gnomAD
CA243785269 rs1044379990	395	T>I		No	ClinGen TOPMed gnomAD
rs1214577772 CA607820481	397	L>*		No	ClinGen gnomAD
CA243785242 rs543939972	399	A>P		No	ClinGen ExAC gnomAD
CA6803724 rs543939972	399	A>T		No	ClinGen ExAC gnomAD
TCGA novel	400	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232061328 CA386837886	400	R>Q		No	ClinGen gnomAD
CA386837871 rs1347053767	402	L>M		No	ClinGen gnomAD
rs760500358 CA6803721	404	I>T		No	ClinGen ExAC gnomAD
rs148882990 CA6803722	404	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6803719 rs772334186	405	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6803716 rs142110780	408	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs533114649 CA6803717	408	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803715 rs749752469	409	N>D		No	ClinGen ExAC gnomAD
rs778195133 CA6803714	409	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756518061 CA6803713	410	V>I		No	ClinGen ExAC TOPMed gnomAD
rs750889151 CA243785221	413	Y>N		No	ClinGen Ensembl
CA6803712 rs372498556	414	S>N		No	ClinGen ESP ExAC TOPMed
CA6803711 rs147587127	416	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs750051631 CA6803709	417	A>T	Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764766919 CA6803708	420	K>R		No	ClinGen ExAC TOPMed gnomAD
rs761253753 CA6803707	421	L>F		No	ClinGen ExAC gnomAD
rs753775513 CA6803706	425	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1605601 rs753775513 CA386837636	425	R>G	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6803705 rs764081681	425	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6803703 rs369214447	426	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs940274985 CA243783841	428	R>C		No	ClinGen gnomAD
CA243783838 rs891338950	428	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs891338950 CA386837368	428	R>P		No	ClinGen TOPMed gnomAD
CA6803682 rs570862141	430	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6803681 rs766579066	431	R>P		No	ClinGen ExAC gnomAD
rs1484726361 CA386837339	433	G>A		No	ClinGen TOPMed
CA6803679 rs773369179	434	R>*		No	ClinGen ExAC TOPMed gnomAD
rs199869853 CA243783832	434	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199869853 CA6803678	434	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803677 rs748629428	435	S>G		No	ClinGen ExAC gnomAD
CA6803676 rs199798440	438	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803675 rs769045354	439	Y>C		No	ClinGen ExAC
rs747396520 CA6803674	441	L>F		No	ClinGen ExAC gnomAD
rs867343205 CA243783828	443	A>V		No	ClinGen TOPMed gnomAD
rs1270172771 CA386837270	445	D>V		No	ClinGen TOPMed gnomAD
rs1433495438 CA386837267	446	E>K		No	ClinGen TOPMed
rs1298280132 CA386837211	454	H>L		No	ClinGen TOPMed
CA6803670 rs777223531	454	H>Y		No	ClinGen ExAC gnomAD
CA386837206 rs1341941005	455	L>Q		No	ClinGen TOPMed
rs530528282 CA6803668	459	R>C		No	ClinGen ExAC TOPMed gnomAD
rs530528282 CA386837170	459	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767484380 CA6803667	459	R>H		No	ClinGen ExAC gnomAD
TCGA novel	461	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278032354 CA386837141	462	T>A		No	ClinGen TOPMed
rs751370189 CA6803665	463	L>F		No	ClinGen ExAC gnomAD
CA6803663 rs763022316	464	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA386837113 rs1286858907	464	A>V		No	ClinGen TOPMed
CA6803662 rs773602636	465	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1284787994 CA386837088	467	L>F		No	ClinGen gnomAD
rs976188615 CA243783805	469	E>A		No	ClinGen TOPMed
CA6803660 rs762035142	469	E>K		No	ClinGen ExAC TOPMed gnomAD
rs139017196 CA6803659	470	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA386837045 rs1264150309	471	S>T		No	ClinGen gnomAD
CA243779166 rs1002870064	472	G>D		No	ClinGen TOPMed gnomAD
rs1002870064 CA386836716	472	G>V		No	ClinGen TOPMed gnomAD
rs1593000558 CA386836706	474	A>D		No	ClinGen Ensembl
rs1391497300 CA386836707	474	A>S		No	ClinGen gnomAD
CA386836700 rs1417671344	475	G>A		No	ClinGen gnomAD
CA386836701 rs1417671344	475	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6803614 rs369990848	475	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA386836699 rs1417671344	475	G>V		No	ClinGen gnomAD
CA6803613 rs150696501	476	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs538381643 CA6803612	478	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA243779154 rs892978626	479	M>L		No	ClinGen TOPMed
CA386836671 rs1231690046	480	L>V		No	ClinGen gnomAD
rs549409906 CA386836659	482	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549409906 CA6803609	482	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775288624 CA6803610	482	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1593000512 CA386836653	483	V>E		No	ClinGen Ensembl
rs1215237535 CA386836658	483	V>M		No	ClinGen gnomAD
CA386836650 rs1272074519	484	P>S		No	ClinGen gnomAD
CA6803606 rs367630055	486	S>N		No	ClinGen ESP ExAC gnomAD
CA6803605 rs770649106	488	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6803604 rs770649106	488	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6803601 rs370831421	490	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803600 rs755411786	491	E>D		No	ClinGen ExAC gnomAD
rs1448650646 CA386836544	492	D>G		No	ClinGen TOPMed
rs752092143 CA6803599	493	S>R		No	ClinGen ExAC gnomAD
CA6803598 rs766684917	494	G>D		No	ClinGen ExAC gnomAD
CA386836510 rs1566094947	494	G>S		No	ClinGen Ensembl
rs1478635642 CA386836490	495	L>P		No	ClinGen gnomAD
rs1593000446 CA386836456	497	S>N		No	ClinGen Ensembl
CA243779124 rs112121693	499	L>P		No	ClinGen Ensembl
CA386836426 rs1285897716	499	L>V		No	ClinGen TOPMed
CA6803594 rs760254839	502	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6803595 rs146350741	502	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA386836346 rs1311894353	504	E>K		No	ClinGen TOPMed gnomAD
rs745748165 CA243779104	506	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6803591 rs745748165	506	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6803592 rs771734770	506	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774477516 CA6803590	507	G>V		No	ClinGen ExAC gnomAD
rs1450413016 CA386836265	508	L>P		No	ClinGen TOPMed gnomAD
rs892654795 CA243779099	510	R>C		No	ClinGen TOPMed gnomAD
rs545528023 CA6803589	510	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6803587 rs777842919	511	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6803586 rs756303940	512	A>T		No	ClinGen ExAC gnomAD
CA386836200 rs1318069804	513	D>H		No	ClinGen TOPMed gnomAD
rs781209268 CA6803584	515	A>D		No	ClinGen ExAC gnomAD
rs1397446061 CA386836144	515	A>S		No	ClinGen gnomAD
CA386836158 rs1397446061 COSM266367	515	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6803583 rs138890542	516	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA386836102 rs1186796574	517	Q>H		No	ClinGen gnomAD
CA6803582 rs752042941	517	Q>R		No	ClinGen ExAC gnomAD
rs766916048 CA6803581	518	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1214816697 CA386836059	519	Y>C		No	ClinGen TOPMed gnomAD
rs1214816697 CA386836057	519	Y>F		No	ClinGen TOPMed gnomAD
CA6803579 rs750860485	521	R>C		No	ClinGen ExAC TOPMed gnomAD
rs146087049 CA6803577	521	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146087049 CA6803578	521	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6803576 rs149566389	523	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803575 rs138126139	523	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA243779073 rs138126139	523	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150376630 COSM1179989 CA6803574	524	P>L	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6803571 rs35080925	525	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1360139477 CA386835976	525	A>S		No	ClinGen gnomAD
rs35080925 CA6803570	525	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA243779058 rs919120286	527	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386835920 rs1311638005	528	P>L		No	ClinGen gnomAD
CA243779051 rs769033618	530	S>A		No	ClinGen ExAC gnomAD
rs747160403 CA6803565	530	S>F		No	ClinGen ExAC gnomAD
CA6803566 rs769033618	530	S>T		No	ClinGen ExAC gnomAD
rs1190491901 CA386835887	531	I>M		No	ClinGen TOPMed
CA386835896 rs1429710057	531	I>V		No	ClinGen gnomAD
CA6803564 rs376213344	532	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs758870305 CA6803563	535	K>T		No	ClinGen ExAC gnomAD
rs750922290 CA6803562	537	M>I		No	ClinGen ExAC gnomAD
CA6803561 rs145965299	539	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208709490 CA386835765	539	L>P		No	ClinGen gnomAD
rs752366157 CA6803559	543	G>D		No	ClinGen ExAC gnomAD
CA386835693 rs1305790963	544	L>P		No	ClinGen gnomAD
rs1469226805 CA386835679	545	H>Y		No	ClinGen TOPMed
rs779325904 CA6803541	550	S>L		No	ClinGen ExAC TOPMed gnomAD
CA386835499 rs998061476	551	R>C		No	ClinGen TOPMed gnomAD
rs201921889 CA6803539	551	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs998061476 CA243779014	551	R>S		No	ClinGen TOPMed gnomAD
rs778294676 CA6803537	552	F>L		No	ClinGen ExAC gnomAD
CA6803535 rs751289053	555	E>G		No	ClinGen ExAC gnomAD
rs754610471 CA6803536	555	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200999538 CA6803533	559	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs765866796 CA6803534	559	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1414134131 CA386835318	561	R>G		No	ClinGen TOPMed
rs1455368234 CA386835314	561	R>K		No	ClinGen TOPMed
CA386835306 rs1235003704	561	R>S		No	ClinGen gnomAD
rs761587704 CA6803530	563	V>G		No	ClinGen ExAC gnomAD
CA386835263 rs1593000083	564	D>G		No	ClinGen Ensembl
rs763903867 CA6803528	566	I>L		No	ClinGen ExAC gnomAD
CA386835228 rs1234411845	566	I>M		No	ClinGen TOPMed gnomAD
rs760833636 CA6803527	566	I>T		No	ClinGen ExAC TOPMed gnomAD
CA386835210 rs1438000683	569	Y>H		No	ClinGen gnomAD
rs573465251 CA6803526	570	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803524 VAR_052171 rs35519289	570	R>H		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA6803525 rs35519289	570	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs929485015 CA243778963	571	S>F		No	ClinGen TOPMed
rs774907322 CA6803523	572	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6803522 rs58401684	572	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774907322 COSM347408 CA386835195	572	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756569371	573	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs749816902 CA6803521	573	A>T		No	ClinGen ExAC gnomAD
rs146948767 CA6803520	573	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771164684 CA6803505	575	I>M		No	ClinGen ExAC TOPMed gnomAD
rs902503309 CA243778516	575	I>V		No	ClinGen TOPMed gnomAD
rs773906981 CA6803503	577	E>K		No	ClinGen ExAC TOPMed gnomAD
CA386835012 rs1592999254	578	I>T		No	ClinGen Ensembl
CA386835008 rs770253069	579	N>D		No	ClinGen ExAC gnomAD
CA243778499 rs1041987466	579	N>S		No	ClinGen TOPMed gnomAD
CA386835007 rs1041987466	579	N>T		No	ClinGen TOPMed gnomAD
CA6803502 rs770253069	579	N>Y		No	ClinGen ExAC gnomAD
rs371172279 CA386835003	580	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371172279 CA243778490	580	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371172279 CA6803500	580	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA386835002 rs1331277315	580	A>V		No	ClinGen TOPMed
CA386834998 rs1353496569	581	S>P		No	ClinGen gnomAD
rs1406096320 CA386834990	582	S>N		No	ClinGen TOPMed
CA6803499 rs771570378	583	R>*		No	ClinGen ExAC TOPMed gnomAD
rs145436955 CA6803498	583	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1055322472 CA243778471	584	D>G		No	ClinGen TOPMed
rs1465287839 CA386834964	585	L>P		No	ClinGen TOPMed gnomAD
rs35893411 CA6803496	587	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs952573542 CA243778458	587	S>N		No	ClinGen TOPMed gnomAD
rs1237438024 CA386834916	589	V>A		No	ClinGen gnomAD
CA243778454 rs376438071	590	M>I		No	ClinGen ESP TOPMed gnomAD
rs777752101 CA6803494	590	M>T		No	ClinGen ExAC TOPMed gnomAD
rs755888213 CA6803493	591	R>C		No	ClinGen ExAC TOPMed
rs755888213 CA243778444	591	R>G		No	ClinGen ExAC TOPMed
rs752374976 CA6803492	591	R>H		No	ClinGen ExAC TOPMed gnomAD
CA386834894 rs1234928891	592	A>D		No	ClinGen gnomAD
CA243778432 rs201522087	592	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803490 rs201522087	592	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386834891 rs1234928891	592	A>V		No	ClinGen gnomAD
CA386834873 rs1430642592	594	R>Q		No	ClinGen TOPMed
rs751830207 CA6803489	594	R>W		No	ClinGen ExAC gnomAD
CA386834839 rs1442807296	597	D>H		No	ClinGen gnomAD
CA6803486 rs773853620	598	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6803485 rs770483991	598	R>H		No	ClinGen ExAC TOPMed gnomAD
CA386834821 rs770483991	598	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1167310756 CA386834807	600	A>T		No	ClinGen TOPMed gnomAD
CA386834787 rs1159707441	602	A>T		No	ClinGen TOPMed gnomAD
CA6803482 rs769100374	603	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6803481 rs745483675	603	R>H		No	ClinGen ExAC TOPMed gnomAD
CA243778409 rs769100374	603	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1456892661 CA386834741	606	Q>R		No	ClinGen gnomAD
CA386834733 rs1253272322	607	G>R		No	ClinGen gnomAD
rs1205498351 CA386834728	607	G>V		No	ClinGen TOPMed gnomAD
CA386834722 rs1215144108	608	Q>E		No	ClinGen gnomAD
CA386834718 rs1449747900	608	Q>R		No	ClinGen gnomAD
rs1289077004 CA386834712	609	Q>K		No	ClinGen gnomAD
rs778572904 CA6803480	609	Q>R		No	ClinGen ExAC gnomAD
rs954372161 CA243778403	610	G>R		No	ClinGen TOPMed gnomAD
rs954372161 CA386834698	610	G>W		No	ClinGen TOPMed gnomAD
rs373302874 CA6803478	611	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA386834651 rs1262749077	615	Q>E		No	ClinGen TOPMed
rs1349746668 CA386834649	615	Q>P		No	ClinGen gnomAD
CA386834642 rs1487486118	616	E>K		No	ClinGen TOPMed
CA6803475 rs370023315	617	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1277593362 CA386834636	617	G>S		No	ClinGen TOPMed gnomAD
rs1592999042 CA386834620	619	V>G		No	ClinGen Ensembl
CA386834614 rs1592999038	620	G>A		No	ClinGen Ensembl
CA243778373 rs957882553	620	G>S		No	ClinGen gnomAD
CA243778366 rs564452233	623	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs564452233 CA386834584	623	P>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1158463599 CA386834590	623	P>S		No	ClinGen gnomAD
rs1194895564 CA386834577	624	S>C		No	ClinGen TOPMed gnomAD
rs1194895564 CA386834580	624	S>G		No	ClinGen TOPMed gnomAD
rs1041997310 CA243778358	625	R>C		No	ClinGen TOPMed gnomAD
CA386834560 rs1245690819	625	R>H		No	ClinGen gnomAD
rs1216392416 CA386834543	627	A>E		No	ClinGen gnomAD
rs1592998991 CA386834479	633	P>A		No	ClinGen Ensembl
TCGA novel	633	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243778341 rs999613841	635	K>E		No	ClinGen TOPMed
CA386834451 rs1418751719	635	K>N		No	ClinGen TOPMed
rs1348805075 CA386834430	636	E>D		No	ClinGen TOPMed gnomAD
CA386834416 rs1305912231	638	E>K		No	ClinGen gnomAD
CA386834355 rs1217761119 COSM1358952	640	E>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA386834348 rs1366984883	640	E>D		No	ClinGen gnomAD
CA6803471 rs751701746	641	A>V		No	ClinGen ExAC TOPMed
rs1433469453 CA386834309	642	G>E		No	ClinGen TOPMed gnomAD
rs1297921160 CA386834265	644	S>C		No	ClinGen gnomAD
CA386834273 rs1297921160	644	S>G		No	ClinGen gnomAD
CA243778325 rs368039060	644	S>N		No	ClinGen gnomAD
CA386834256 rs1592998938	644	S>R		No	ClinGen Ensembl
rs1234413109 CA386834126	647	D>G		No	ClinGen gnomAD
CA243778074 rs936316863	652	V>F		No	ClinGen gnomAD
TCGA novel	652	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200348185 CA6803456	653	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803455 rs200348185	653	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803453 rs754726744	655	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6803454 rs201203830	655	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs575452421 CA6803451	657	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803452 rs746859443	657	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6803449 rs369956816	659	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373380709 CA6803450	659	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA386833960 rs1260976119	660	S>L		No	ClinGen gnomAD
CA6803447 rs757393238	660	S>P		No	ClinGen ExAC gnomAD
CA6803446 rs754293099	661	G>R		No	ClinGen ExAC gnomAD
rs1456646071 CA386833944	662	P>R		No	ClinGen gnomAD
rs917837792 CA243778049	663	N>T		No	ClinGen TOPMed gnomAD
CA6803444 rs761098011	664	R>G		No	ClinGen ExAC gnomAD
rs1264213734 CA607820433	664	R>SYGAAIP*		No	ClinGen gnomAD
rs1244430069 CA386833913	666	A>D		No	ClinGen gnomAD
CA6803443 rs201969897	667	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1566093457 CA386833887	668	R>K		No	ClinGen Ensembl
rs139432025 CA243778027	669	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs139432025 CA6803442	669	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201635496 CA243778031	669	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs1374240241 CA386833853	671	E>K		No	ClinGen gnomAD
TCGA novel	672	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218013140 CA386833838	672	E>G		No	ClinGen TOPMed
CA6803440 rs772899532	672	E>K		No	ClinGen ExAC gnomAD
rs1257432608 CA386833828	673	A>T		No	ClinGen TOPMed
CA386833819 rs1392710278	673	A>V		No	ClinGen gnomAD
rs747760841 CA6803438	674	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA386833813 rs1457396498	674	R>W		No	ClinGen TOPMed gnomAD
rs1160276047 CA386833786	676	R>Q	Variant assessed as Somatic; 4.878e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746951210 CA6803435	677	D>E		No	ClinGen ExAC gnomAD
rs1379935813 CA386833774	677	D>N		No	ClinGen gnomAD
rs768583435 CA6803436	677	D>V		No	ClinGen ExAC gnomAD
rs1566093414 CA386833763	678	Q>K		No	ClinGen Ensembl
CA386833746 rs1209746973	679	E>K		No	ClinGen gnomAD
rs758295711 CA6803433	680	F>L		No	ClinGen ExAC TOPMed gnomAD
rs183460780 CA6803432	680	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1027629813 CA243778019	681	Y>F		No	ClinGen TOPMed
CA386833705 rs779257909	682	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1350978999 CA386833700	682	I>T		No	ClinGen gnomAD
CA6803431 rs779257909	682	I>V		No	ClinGen ExAC TOPMed gnomAD
CA386833676 rs1566093381	684	Y>C		No	ClinGen Ensembl
CA6803429 COSM1298944 rs753895243	685	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs146871883 CA6803430	685	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764083182 CA6803428	686	P>L		No	ClinGen ExAC TOPMed gnomAD
CA386833656 rs1298621214	687	K>E		No	ClinGen gnomAD
COSM1746759 rs1592998256 CA386833644	688	D>G	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6803427 rs756572688	689	F>L		No	ClinGen ExAC TOPMed gnomAD
COSM546639 CA386833623 rs1299754662	691	S>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA386833616 rs1419999031	692	E>K		No	ClinGen TOPMed
CA6803423 VAR_052172 rs11564	693	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6803424 rs374730367	693	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA386833603 rs1375972709	694	G>A		No	ClinGen gnomAD
CA386833586 rs1434290531	695	L>P		No	ClinGen TOPMed
TCGA novel	696	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803396 rs774263265	696	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6803395 rs774154228	697	I>V		No	ClinGen ExAC gnomAD
CA6803394 rs770652501	698	S>T		No	ClinGen ExAC gnomAD
CA6803392 CA6803391 rs769860742	699	G>R		No	ClinGen ExAC gnomAD
rs769860742 CA386833564	699	G>W		No	ClinGen ExAC gnomAD
rs199682901 CA6803389	701	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	702	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803388 rs114497647	702	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386833539 rs1419234748	703	A>G		No	ClinGen gnomAD
rs752039864 CA6803387	703	A>T		No	ClinGen ExAC gnomAD
rs780421067 CA6803386	705	E>K		No	ClinGen ExAC
CA6803385 rs758742181	706	Q>L		No	ClinGen ExAC
CA386833515 rs1165304399	707	Q>*		No	ClinGen gnomAD
rs1186380831 CA386833495	710	G>S		No	ClinGen gnomAD
rs61740930 CA6803382	711	A>T		No	ClinGen ExAC TOPMed gnomAD
CA243777953 VAR_052173 rs10354	712	V>A		No	ClinGen UniProt Ensembl dbSNP
CA386833483 rs1196237782	712	V>L		No	ClinGen gnomAD
CA386833450 rs1457222304	717	G>R		No	ClinGen gnomAD
TCGA novel	718	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243777951 rs866568580	721	Q>R		No	ClinGen TOPMed
CA386833409 rs370866432 CA6803381	722	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767165625 CA6803380	723	L>P		No	ClinGen ExAC gnomAD
rs373264271 CA6803378	724	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs759467235 CA6803379	724	T>P		No	ClinGen ExAC gnomAD
rs373264271 CA243777948	724	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA386833394 rs1297219335	725	R>S		No	ClinGen gnomAD
CA386833393 rs1446146307	726	G>S		No	ClinGen gnomAD
CA6803373 rs760686446	727	R>Q		No	ClinGen ExAC gnomAD
CA6803374 rs199780486	727	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1404152761 CA386833382	728	Q>K		No	ClinGen gnomAD
CA6803371 rs201976305	729	Q>*		No	ClinGen ExAC gnomAD
CA386833367 rs1415779121	730	L>F		No	ClinGen TOPMed
rs1016838336 CA243777569	734	R>H		No	ClinGen gnomAD
CA386833105 rs1359403361	738	R>Q		No	ClinGen gnomAD
CA386833076 rs1177530419	740	V>A		No	ClinGen gnomAD
rs1267955984 CA386833033	743	S>L		No	ClinGen TOPMed
TCGA novel	744	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803338 rs764982573	745	Q>R		No	ClinGen ExAC gnomAD
rs761642755 CA6803337	746	E>K		No	ClinGen ExAC TOPMed gnomAD
CA386833002 rs761642755	746	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA243777560 rs1005915884	747	D>G		No	ClinGen gnomAD
CA386832964 rs1282123656	748	K>R		No	ClinGen TOPMed
rs886943440 CA243777558	749	K>Q		No	ClinGen TOPMed gnomAD
rs764159368 CA6803335	750	K>M		No	ClinGen ExAC gnomAD
TCGA novel	752	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs111228585 CA243777543	752	K>R		No	ClinGen Ensembl
rs1263773302 CA386832870	753	T>S		No	ClinGen TOPMed
CA6803333 rs760969786	754	E>G		No	ClinGen ExAC TOPMed gnomAD
rs751518629	755	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1220970318 CA386832814	756	G>D		No	ClinGen gnomAD
CA386832823 rs1258853655	756	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760090760 CA6803327	759	I>F		No	ClinGen ExAC gnomAD
rs775049355 CA6803326	760	S>G		No	ClinGen ExAC gnomAD
rs771409745 CA6803325	761	S>N		No	ClinGen ExAC TOPMed gnomAD
CA386832715 rs771409745	761	S>T		No	ClinGen ExAC TOPMed gnomAD
rs555431868 CA6803323	763	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA243777525 rs761117277	765	R>P		No	ClinGen TOPMed
CA386832624 rs1169403802	766	D>G		No	ClinGen gnomAD
rs1421408731 CA386832628	766	D>N		No	ClinGen gnomAD
CA243777352 rs915205674	768	Y>H		No	ClinGen TOPMed gnomAD
rs1271090120 CA386832513	769	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386832517 rs1438104753	769	Q>R		No	ClinGen TOPMed
CA243777349 rs904522336	771	W>C		No	ClinGen Ensembl
CA6803292 rs141867029	772	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	777	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361003355 CA386832385	778	D>E		No	ClinGen gnomAD
CA6803291 rs372406216	779	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803289 rs766588291	780	R>H		No	ClinGen ExAC gnomAD
CA386832334 rs987752249	782	S>*		No	ClinGen TOPMed gnomAD
CA243777338 rs987752249	782	S>L		No	ClinGen TOPMed gnomAD
rs1435371355 CA386832339	782	S>T		No	ClinGen gnomAD
rs376195121 CA6803287	784	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803286 rs765494779	785	E>D		No	ClinGen ExAC
CA386832292 rs1488816012	785	E>K		No	ClinGen gnomAD
rs148509961 CA386832250	787	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs148509961 CA6803285	787	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386832229 rs1317955060	788	S>C		No	ClinGen gnomAD
rs745546496 CA6803282	790	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6803283 rs771641304	790	R>W		No	ClinGen ExAC TOPMed gnomAD
rs770471968 CA6803280	791	R>G		No	ClinGen ExAC gnomAD
rs1404317942 COSM1476146 CA386832194	791	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1353132801 CA386832137	795	R>*		No	ClinGen TOPMed
rs144699331 CA6803279	795	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386832131 rs144699331	795	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386832123 rs1313987405	796	R>K		No	ClinGen TOPMed
CA386832105 rs777826808	797	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6803278 rs777826808	797	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	800	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243777300 rs748623391	800	R>Q		No	ClinGen gnomAD
rs747911757 CA6803276	801	D>E		No	ClinGen ExAC gnomAD
rs1004491131 CA243777290	802	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1004491131 CA386832020	802	R>G		No	ClinGen TOPMed gnomAD
CA6803274 rs116150151	803	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386831975 rs1566092406	804	Q>H		No	ClinGen Ensembl
CA386831173 rs1179538105	805	G>D		No	ClinGen gnomAD
CA386831164 rs1290271779	806	A>T		No	ClinGen gnomAD
rs750446829 CA6803250	807	S>F		No	ClinGen ExAC gnomAD
rs758401269 CA243776299	807	S>P		No	ClinGen ExAC TOPMed gnomAD
rs758401269 CA6803251	807	S>T		No	ClinGen ExAC TOPMed gnomAD
CA6803248 rs146124972	808	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs544735169 CA6803249	808	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386831110 rs1277893892	810	H>R		No	ClinGen gnomAD
CA243776265 rs201014565	811	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803246 rs201014565	811	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6803245 rs761089016	812	P>S		No	ClinGen ExAC TOPMed gnomAD
CA386831040 rs751209984	814	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1592995027 CA386831042	814	T>P		No	ClinGen Ensembl
CA6803244 rs751209984	814	T>S		No	ClinGen ExAC TOPMed gnomAD
rs762526913 CA386831036	815	P>A		No	ClinGen ExAC gnomAD
CA6803242 rs762526913	815	P>S		No	ClinGen ExAC gnomAD
rs1046189400 CA243776247	816	A>V		No	ClinGen TOPMed gnomAD
CA6803241 rs772730940	818	R>*		No	ClinGen ExAC TOPMed gnomAD
rs769217668 CA386830997	818	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6803240 rs769217668	818	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1267975176 CA386830987	819	V>A		No	ClinGen gnomAD
rs867838074 CA243776243	819	V>I		No	ClinGen gnomAD
rs555973147 CA243776231	820	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6803239 rs143647024	820	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386830979 rs143647024	820	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs555973147 CA386830982	820	R>S		No	ClinGen gnomAD
CA6803238 VAR_033860 rs1048889	821	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6803236 rs746863532	823	L>F		No	ClinGen ExAC gnomAD
rs1592994940 CA386830935	825	T>P		No	ClinGen Ensembl
CA386830886 rs1345242015	827	Q>H		No	ClinGen TOPMed gnomAD
rs1299227201 CA386830880	828	Q>*		No	ClinGen gnomAD
rs372327137 CA6803234	828	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425336066 CA386830795	833	R>Q		No	ClinGen gnomAD
rs779023545 CA6803232	833	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6803231 rs150324746	834	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370060266 CA6803230	834	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA386830769 rs1489357824	835	R>Q		No	ClinGen TOPMed gnomAD
rs376718361 CA243776188	835	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA386830758 rs1240582621	836	A>S		No	ClinGen gnomAD
TCGA novel	836	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803228 rs756619952	838	K>R		No	ClinGen ExAC TOPMed
CA6803227 rs753939815	840	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA386830658 CA243776172 rs371409328	841	F>L		No	ClinGen ESP TOPMed gnomAD
rs140154334 CA6803226	844	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803224 rs750083509	844	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750083509 CA6803225	844	R>L		No	ClinGen ExAC TOPMed gnomAD
CA386830525 rs1360402365	850	L>I		No	ClinGen gnomAD
rs764780884 CA6803223	851	S>Y		No	ClinGen ExAC gnomAD
CA243776141 rs367566780	853	R>C		No	ClinGen ESP TOPMed
rs768645747 CA6803219	853	R>H		No	ClinGen ExAC gnomAD
CA386830447 rs1592994822	854	N>K		No	ClinGen Ensembl
CA6803218 rs760698052	854	N>S		No	ClinGen ExAC gnomAD
rs760850225 CA243776135	855	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6803217 rs775373047	855	R>H		No	ClinGen ExAC gnomAD
CA6803216 rs534000886	856	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746084777 CA6803215	856	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779064090 CA6803214	857	R>C		No	ClinGen ExAC TOPMed gnomAD
CA243776127 rs779064090	857	R>G		No	ClinGen ExAC TOPMed gnomAD
rs151166999 CA6803213	857	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151166999 CA243776120	857	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	858	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6803210 rs551589253	858	V>I		No	ClinGen 1000Genomes TOPMed
CA386830375 rs1461206926	859	Q>L		No	ClinGen gnomAD
CA6803209 rs775351819 COSM935379	862	Q>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6803208 rs775351819	862	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1371208638 CA386830331	863	Q>*		No	ClinGen TOPMed
CA386830330 rs1411798609	863	Q>R		No	ClinGen TOPMed
rs143051939 CA243776093	864	G>S		No	ClinGen ESP TOPMed gnomAD
CA6803207 rs370380296	864	G>V		No	ClinGen ExAC TOPMed gnomAD
rs201483723 CA6803205 COSM2172330	865	A>S	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs201483723 CA243776078	865	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1449836483 CA386830258	867	G>S		No	ClinGen TOPMed gnomAD
CA6803201 rs146882826	868	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803202 rs756971909	868	R>W		No	ClinGen ExAC gnomAD
rs774364625 CA243776066	869	G>D		No	ClinGen Ensembl
CA6803200 rs763715983	870	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1169514760 CA386830199	870	A>V		No	ClinGen gnomAD
rs529251320 CA6803198	871	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767334221 CA6803197	871	R>H		No	ClinGen ExAC gnomAD
rs759318593 CA6803196	872	S>F		No	ClinGen ExAC gnomAD
CA243776046 rs771002131	874	K>N		No	ClinGen ExAC TOPMed gnomAD
rs371716079 CA6803192	875	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs773237388 CA6803191	876	K>E		No	ClinGen ExAC gnomAD
CA386830086 rs748632245 CA6803189	877	M>I		No	ClinGen ExAC gnomAD
rs769901613 CA6803190	877	M>K		No	ClinGen ExAC TOPMed gnomAD
rs367983164 CA6803187	878	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6803188 rs781605282	878	R>W		No	ClinGen ExAC TOPMed gnomAD
rs747267485 CA6803186	880	R>K		No	ClinGen ExAC gnomAD
CA386830019 rs1367284693	881	M>L		No	ClinGen gnomAD

No associated diseases with Q8TDD1

7 regional properties for Q8TDD1

Type	Name	Position	InterPro Accession
conserved_site	ATP-dependent RNA helicase DEAD-box, conserved site	245 - 253	IPR000629
domain	Helicase, C-terminal	324 - 473	IPR001650
domain	DEAD/DEAH box helicase domain	120 - 283	IPR011545
domain	DBP10, C-terminal	714 - 774	IPR012541
domain	Helicase superfamily 1/2, ATP-binding domain	115 - 314	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	96 - 124	IPR014014
domain	DDX54/DBP10 family, DEAD-box helicase domain	96 - 300	IPR033517

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus, nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
nuclear estrogen receptor binding	Binding to a nuclear estrogen receptor.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
transcription corepressor activity	A transcription coregulator activity that represses or decreases 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. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors 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.

4 GO annotations of biological process

Name	Definition
intracellular estrogen receptor signaling pathway	The series of molecular signals initiated by estrogen binding to an intracellular receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
RNA metabolic process	The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage.
RNA processing	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8NHQ9	DDX55	ATP-dependent RNA helicase DDX55	Homo sapiens (Human)	PR
P60842	EIF4A1	Eukaryotic initiation factor 4A-I	Homo sapiens (Human)	PR
Q14240	EIF4A2	Eukaryotic initiation factor 4A-II	Homo sapiens (Human)	PR
Q9Y6V7	DDX49	Probable ATP-dependent RNA helicase DDX49	Homo sapiens (Human)	PR
Q9H0S4	DDX47	Probable ATP-dependent RNA helicase DDX47	Homo sapiens (Human)	PR
Q9GZR7	DDX24	ATP-dependent RNA helicase DDX24	Homo sapiens (Human)	PR
Q92499	DDX1	ATP-dependent RNA helicase DDX1	Homo sapiens (Human)	PR
Q9NY93	DDX56	Probable ATP-dependent RNA helicase DDX56	Homo sapiens (Human)	PR
Q9NUL7	DDX28	Probable ATP-dependent RNA helicase DDX28	Homo sapiens (Human)	PR
Q7L014	DDX46	Probable ATP-dependent RNA helicase DDX46	Homo sapiens (Human)	PR
Q8K4L0	Ddx54	ATP-dependent RNA helicase DDX54	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAADKGPAAG	PRSRAAMAQW	RKKKGLRKRR	GAASQARGSD	SEDGEFEIQA	EDDARARKLG
70	80	90	100	110	120
PGRPLPTFPT	SECTSDVEPD	TREMVRAQNK	KKKKSGGFQS	MGLSYPVFKG	IMKKGYKVPT
130	140	150	160	170	180
PIQRKTIPVI	LDGKDVVAMA	RTGSGKTACF	LLPMFERLKT	HSAQTGARAL	ILSPTRELAL
190	200	210	220	230	240
QTLKFTKELG	KFTGLKTALI	LGGDRMEDQF	AALHENPDII	IATPGRLVHV	AVEMSLKLQS
250	260	270	280	290	300
VEYVVFDEAD	RLFEMGFAEQ	LQEIIARLPG	GHQTVLFSAT	LPKLLVEFAR	AGLTEPVLIR
310	320	330	340	350	360
LDVDTKLNEQ	LKTSFFLVRE	DTKAAVLLHL	LHNVVRPQDQ	TVVFVATKHH	AEYLTELLTT
370	380	390	400	410	420
QRVSCAHIYS	ALDPTARKIN	LAKFTLGKCS	TLIVTDLAAR	GLDIPLLDNV	INYSFPAKGK
430	440	450	460	470	480
LFLHRVGRVA	RAGRSGTAYS	LVAPDEIPYL	LDLHLFLGRS	LTLARPLKEP	SGVAGVDGML
490	500	510	520	530	540
GRVPQSVVDE	EDSGLQSTLE	ASLELRGLAR	VADNAQQQYV	RSRPAPSPES	IKRAKEMDLV
550	560	570	580	590	600
GLGLHPLFSS	RFEEEELQRL	RLVDSIKNYR	SRATIFEINA	SSRDLCSQVM	RAKRQKDRKA
610	620	630	640	650	660
IARFQQGQQG	RQEQQEGPVG	PAPSRPALQE	KQPEKEEEEE	AGESVEDIFS	EVVGRKRQRS
670	680	690	700	710	720
GPNRGAKRRR	EEARQRDQEF	YIPYRPKDFD	SERGLSISGE	GGAFEQQAAG	AVLDLMGDEA
730	740	750	760	770	780
QNLTRGRQQL	KWDRKKKRFV	GQSGQEDKKK	IKTESGRYIS	SSYKRDLYQK	WKQKQKIDDR
790	800	810	820	830	840
DSDEEGASDR	RGPERRGGKR	DRGQGASRPH	APGTPAGRVR	PELKTKQQIL	KQRRRAQKLH
850	860	870	880
FLQRGGLKQL	SARNRRRVQE	LQQGAFGRGA	RSKKGKMRKR	M