AiPD: Autoinhibited Protein Database

Q8NG08

Gene name	HELB
Protein name	DNA helicase B
Names	hDHB
Species	Homo sapiens (Human)
KEGG Pathway	hsa:92797
EC number	3.6.4.12: 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)

928-1087 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

928-1087 (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 Q8NG08

Entry ID	Method	Resolution	Chain	Position	Source
7XV1	X-ray	180 A	B	496-519	PDB
AF-Q8NG08-F1	Predicted				AlphaFoldDB

900 variants for Q8NG08

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs772339747 CA6673047	2	A>V		No	ClinGen ExAC
rs1439085415 CA385620871	3	R>G		No	ClinGen TOPMed gnomAD
rs1184119335 CA385620874	3	R>M		No	ClinGen gnomAD
TCGA novel	4	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385620878 rs1386612737	4	S>P		No	ClinGen gnomAD
CA385620887 rs1592626855	5	S>T		No	ClinGen Ensembl
CA6673049 rs142161059	6	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142161059 CA385620894	6	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673048 rs780706106	6	P>T		No	ClinGen ExAC gnomAD
CA385620904 rs1463145217	8	L>V		No	ClinGen TOPMed gnomAD
rs762270423 CA6673052	10	Q>*		No	ClinGen ExAC gnomAD
rs1164428090 CA385620947	14	P>L		No	ClinGen TOPMed
rs770460070 CA6673053	16	L>F		No	ClinGen ExAC gnomAD
CA6673054 rs774101313	18	P>L		No	ClinGen ExAC gnomAD
CA238315264 rs544188657	20	D>G		No	ClinGen 1000Genomes gnomAD
CA238315260 rs1033681931	20	D>Y		No	ClinGen Ensembl
CA238315267 rs746773113	25	D>E		No	ClinGen TOPMed
CA238315265 rs887557336	25	D>G		No	ClinGen Ensembl
rs201715919 CA6673057	27	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs958904641 CA238315271	27	D>G		No	ClinGen Ensembl
CA385621026 rs1255986603	27	D>Y		No	ClinGen gnomAD
rs898918753 CA238315280	32	D>G		No	ClinGen TOPMed
CA6673060 rs764112092	33	V>G		No	ClinGen ExAC gnomAD
rs1026799705 CA238315284	33	V>M		No	ClinGen TOPMed gnomAD
rs757111101 CA6673062	34	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6673063 rs778994416	35	E>D		No	ClinGen ExAC TOPMed gnomAD
rs750744999 CA6673064	39	S>C		No	ClinGen ExAC gnomAD
rs758702075 CA6673065	40	V>M		No	ClinGen ExAC gnomAD
CA385621132 rs1390627487	42	I>M		No	ClinGen gnomAD
rs747108792 CA6673067	45	E>*		No	ClinGen ExAC
CA6673068 rs755402051	45	E>G		No	ClinGen ExAC gnomAD
TCGA novel	46	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385621176 rs1276510575	49	S>G		No	ClinGen gnomAD
CA6673071 rs770250410	51	G>D		No	ClinGen ExAC gnomAD
rs770250410 CA385621193	51	G>V		No	ClinGen ExAC gnomAD
CA6673072 rs148579722	55	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385621229 rs1325535063	57	L>F		No	ClinGen TOPMed
CA385621237 rs1191114536	58	P>R		No	ClinGen gnomAD
CA385621235 rs1488971375	58	P>S		No	ClinGen gnomAD
CA385621241 rs1172565312	59	G>E		No	ClinGen TOPMed
rs908254290 CA238315355	59	G>R		No	ClinGen gnomAD
rs774929641 CA6673077	60	C>F		No	ClinGen ExAC
CA385621246 rs1592627064	60	C>G		No	ClinGen Ensembl
rs760205901 CA238315371	61	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6673078 rs760205901	61	L>V		No	ClinGen ExAC TOPMed gnomAD
rs763903259 CA6673079	63	V>I		No	ClinGen ExAC gnomAD
CA6673103 rs746474668	64	S>C		No	ClinGen ExAC gnomAD
rs746474668 CA385621284	64	S>F		No	ClinGen ExAC gnomAD
rs151139963 CA6673104	65	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776014114 CA6673105	66	C>F		No	ClinGen ExAC gnomAD
rs1336108233 CA385621291	66	C>R		No	ClinGen TOPMed
CA6673107 rs765111862	70	T>I		No	ClinGen ExAC gnomAD
CA385621329 rs1450640249	71	Q>*		No	ClinGen gnomAD
rs1239094944 CA385621333	71	Q>H		No	ClinGen gnomAD
rs773103209 CA6673108	71	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	73	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673109 rs762883213	74	C>G		No	ClinGen ExAC TOPMed gnomAD
CA385621351 rs762883213	74	C>R		No	ClinGen ExAC TOPMed gnomAD
rs766686609 CA6673110	74	C>W		No	ClinGen ExAC gnomAD
CA385621357 rs1379813708	74	C>Y		No	ClinGen TOPMed gnomAD
CA385621377 rs1165035887	75	K>R		No	ClinGen gnomAD
CA385621435 rs1408195569	78	G>A		No	ClinGen gnomAD
rs574972143 CA6673111	79	R>C		No	ClinGen ExAC TOPMed gnomAD
CA385621446 rs1404917747	79	R>H		No	ClinGen gnomAD
rs1329371846 CA385621475	81	P>A		No	ClinGen TOPMed gnomAD
rs549613910 CA6673112	81	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385621515 rs1308405757	84	G>S		No	ClinGen gnomAD
rs756592255 CA6673115	85	A>G		No	ClinGen ExAC gnomAD
CA6673116 rs756592255	85	A>V		No	ClinGen ExAC gnomAD
rs888066538 CA385621549	86	W>*		No	ClinGen gnomAD
rs888066538 CA238316433	86	W>C		No	ClinGen gnomAD
rs1006417020 CA238316437	88	R>T		No	ClinGen Ensembl
rs757663918 CA6673118	89	V>M		No	ClinGen ExAC gnomAD
rs779681184 CA6673119	92	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs779681184 CA385621630	92	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA238316446 rs897963553	94	K>N		No	ClinGen TOPMed gnomAD
rs997622110 CA238316449	101	S>N		No	ClinGen gnomAD
rs997622110 CA385621812	101	S>T		No	ClinGen gnomAD
CA6673122 rs780707427	102	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	102	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385621869 rs1472624936	103	Q>H		No	ClinGen TOPMed gnomAD
rs1366793447 CA385621853	103	Q>K		No	ClinGen gnomAD
rs867716279 CA238316461	104	Y>C		No	ClinGen Ensembl
TCGA novel	106	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402239603 CA385621921	107	Q>*		No	ClinGen gnomAD
rs201128308 CA6673125 COSM304524	110	P>L	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA6673126 rs201128308	110	P>R		No	ClinGen ESP ExAC gnomAD
rs375900424 CA6673130	111	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs551475760 CA6673131	112	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA385622037 rs1565634491	112	Y>D		No	ClinGen Ensembl
rs760707214 CA6673133	114	L>V		No	ClinGen ExAC gnomAD
rs764558355 CA6673134	115	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	117	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673135 rs754396716	117	D>G		No	ClinGen ExAC gnomAD
CA238316499 rs979736063	117	D>Y		No	ClinGen gnomAD
rs368958419 CA6673136	118	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA385622269 rs1483902902	119	S>*		No	ClinGen gnomAD
CA6673138 rs750778913	121	P>A		No	ClinGen ExAC gnomAD
rs750778913 CA385622307	121	P>S		No	ClinGen ExAC gnomAD
rs754623133 CA385622406	124	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6673140 rs780749687	125	H>Q		No	ClinGen ExAC gnomAD
rs376823726 CA6673142	126	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673141 rs372138618	126	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA385622451 rs1416139407	126	I>V		No	ClinGen TOPMed
rs991961371 CA238316538	127	C>F		No	ClinGen TOPMed
CA385622621 rs1377989101	131	L>F		No	ClinGen gnomAD
CA6673143 rs777849853	131	L>P		No	ClinGen ExAC gnomAD
rs757912663 CA6673144	134	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA385622736 rs1400115296	135	E>Q		No	ClinGen gnomAD
TCGA novel	138	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385622788 rs749169621	138	S>I		No	ClinGen ExAC TOPMed gnomAD
CA6673145 rs749169621	138	S>N		No	ClinGen ExAC TOPMed gnomAD
rs534225971 CA6673146	139	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA238316551 rs145082582	139	D>N		No	ClinGen ESP TOPMed gnomAD
rs1193909623 CA385622835	140	D>G		No	ClinGen TOPMed
rs774145912 CA6673147	140	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1295385334 CA385622868	141	V>I		No	ClinGen TOPMed gnomAD
CA385622893 rs1427620189	142	N>S		No	ClinGen TOPMed gnomAD
rs759277660 CA6673148	143	K>N		No	ClinGen ExAC gnomAD
COSM942642 rs1313125769 CA385622918	143	K>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1160933635 CA385622937	144	F>I		No	ClinGen Ensembl
rs1344861791 CA385622965	145	L>*		No	ClinGen gnomAD
CA385623004 rs1265337698	147	W>G		No	ClinGen gnomAD
CA385623000 rs1265337698	147	W>R		No	ClinGen gnomAD
rs775619811 CA6673150	148	V>L		No	ClinGen ExAC gnomAD
rs201203344 CA238316557	149	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201203344 CA6673151	149	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385623068 rs1267859908	150	E>V		No	ClinGen gnomAD
rs764097774 CA385623112	153	N>D		No	ClinGen ExAC gnomAD
CA6673152 rs764097774	153	N>H		No	ClinGen ExAC gnomAD
rs930703922 CA238316563	153	N>S		No	ClinGen TOPMed
rs753931590 CA6673153	154	Y>C		No	ClinGen ExAC gnomAD
rs1173650703 CA385623130	154	Y>H		No	ClinGen gnomAD
rs762260958 CA6673154	156	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	161	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673158 rs767185039	161	N>S		No	ClinGen ExAC
rs758740137 CA6673157	161	N>Y		No	ClinGen ExAC gnomAD
rs373750935 CA6673159	163	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1388906382 CA385623315	163	R>K		No	ClinGen gnomAD
CA6673160 rs755831953	163	R>S		No	ClinGen ExAC gnomAD
CA6673161 rs374165848	164	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs745651654 CA6673165	169	F>L		No	ClinGen ExAC gnomAD
rs757218932 CA6673164	169	F>S		No	ClinGen ExAC gnomAD
CA6673163 rs757218932	169	F>Y		No	ClinGen ExAC gnomAD
CA6673168 rs747180572	172	E>G		No	ClinGen ExAC TOPMed gnomAD
rs35605829 VAR_043855 CA6673167	172	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35605829 CA385623633	172	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747180572 CA6673169	172	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1454370198 CA385623670	173	T>N		No	ClinGen gnomAD
rs889214867 CA385623684	174	G>A		No	ClinGen TOPMed gnomAD
CA238316631 rs889214867	174	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	180	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385623938 rs1266328782	182	T>R		No	ClinGen gnomAD
CA238316635 rs148900779	183	Q>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	186	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673171 rs761924990	187	E>V		No	ClinGen ExAC gnomAD
rs113658249 CA6673172	189	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1253394814 CA385624114	190	F>L		No	ClinGen TOPMed
VAR_043856 CA6673173 rs4430553	191	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs4430553 CA385624121	191	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763373645 CA6673174	192	D>G		No	ClinGen ExAC gnomAD
CA385624145 rs1318125053	193	N>D		No	ClinGen gnomAD
CA385624152 rs1217296847	193	N>S		No	ClinGen TOPMed gnomAD
rs766587389 CA6673175	195	M>I		No	ClinGen ExAC TOPMed gnomAD
rs751984172 CA6673176	198	P>S		No	ClinGen ExAC
CA238316675 rs1051934339	203	I>V		No	ClinGen Ensembl
CA385625358 rs1353626652	206	R>S		No	ClinGen TOPMed
rs987725301 CA238317165	207	N>K		No	ClinGen TOPMed gnomAD
CA6673199 rs761379717	207	N>S		No	ClinGen ExAC gnomAD
rs1255841617 COSM340387 CA385625385	208	V>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1210705598 CA385625457	211	A>V		No	ClinGen gnomAD
rs1366843551 CA385625502	213	Q>P		No	ClinGen TOPMed
rs749974699 CA6673201	214	F>L		No	ClinGen ExAC gnomAD
CA6673203 rs780083932	215	P>L		No	ClinGen ExAC TOPMed gnomAD
CA385625525 rs780083932	215	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6673202 rs758231002 COSM694741	215	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs138235805 CA6673205	217	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA6673206 rs781388173	218	M>T		No	ClinGen ExAC gnomAD
CA6673208 rs748305229	221	L>F		No	ClinGen ExAC gnomAD
CA6673207 rs748305229	221	L>I		No	ClinGen ExAC gnomAD
rs747014610 CA238317201	223	V>F		No	ClinGen Ensembl
rs1351017496 CA385625709	225	L>M		No	ClinGen TOPMed
COSM1363685 CA6673209 rs370199105	227	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs370199105 CA385625744	227	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6673210 COSM942645 rs138859028	227	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6673211 rs374113325	228	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1053182900 CA238317217	230	K>R		No	ClinGen Ensembl
TCGA novel	233	I>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474945297 CA385625972	233	I>T		No	ClinGen TOPMed
CA385625963 rs1402071628	233	I>V		No	ClinGen TOPMed gnomAD
rs775045720 CA6673212	234	G>A		No	ClinGen ExAC TOPMed gnomAD
rs772628710 CA6673214	235	S>L		No	ClinGen ExAC TOPMed gnomAD
rs113022875 CA6673213	235	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA691063080 rs1388505625	236	G>*		No	ClinGen TOPMed
CA385626076 rs1310320063	239	E>A		No	ClinGen gnomAD
TCGA novel	239	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1006741835 CA238317225	240	M>I		No	ClinGen TOPMed
TCGA novel	241	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149561017 CA6673215	241	L>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	243	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761326986 CA6673216	243	E>D		No	ClinGen ExAC gnomAD
CA385626201 rs1489106532	244	I>V		No	ClinGen gnomAD
CA6673218 rs749873732	247	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6673219 rs762577023	249	G>D		No	ClinGen ExAC
CA238317246 rs761330880	250	T>I		No	ClinGen gnomAD
CA385626379 rs761330880	250	T>K		No	ClinGen gnomAD
CA6673220 rs776965102	252	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	253	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673222 rs147255627	255	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147255627 CA385626539	255	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385626630 rs1434954833	259	K>E		No	ClinGen TOPMed
rs752401595 CA6673244	263	R>I		No	ClinGen ExAC gnomAD
CA385626980 rs1378959325	265	W>*		No	ClinGen gnomAD
TCGA novel	265	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673245 VAR_043857 rs35138454 RCV000967279	267	L>F		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs563944682 CA6673246	268	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs528289213 CA6673247 COSM1363686	269	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel CA385627036 rs1042772360	269	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA238318727 rs1042772360	269	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1292527345 CA385627057	270	C>F		No	ClinGen gnomAD
rs757553870 CA6673249	270	C>G		No	ClinGen ExAC TOPMed gnomAD
CA6673248 rs757553870	270	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1467389948 CA385627066	271	E>K		No	ClinGen gnomAD
rs745979225 CA6673250	272	A>V		No	ClinGen ExAC gnomAD
CA385627156 rs1239346838	274	W>C		No	ClinGen gnomAD
CA6673251 rs540342351	275	I>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	276	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673252 rs370311569	276	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA238318748 rs1056915636	284	L>I		No	ClinGen Ensembl
rs368271317 CA6673254	287	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA385627459 rs1415448747	291	E>G		No	ClinGen gnomAD
TCGA novel	292	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385627515 rs1460748366	294	A>T		No	ClinGen gnomAD
CA385627581 rs1402375986	297	M>I		No	ClinGen TOPMed gnomAD
rs914826175 CA238318757	300	R>I		No	ClinGen TOPMed
CA6673257 rs770594549	300	R>S		No	ClinGen ExAC gnomAD
CA385627681 rs1327665699	303	Q>E		No	ClinGen gnomAD
CA385627708 rs1340524037	304	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	305	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385627711 rs1246579233	305	C>R		No	ClinGen gnomAD
CA385627727 rs1282096300	305	C>Y		No	ClinGen gnomAD
TCGA novel	306	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773808619 CA6673258	308	D>G		No	ClinGen ExAC gnomAD
CA385627797 rs1333648197	308	D>N		No	ClinGen gnomAD
rs1379632082 CA385627806	309	G>R		No	ClinGen TOPMed gnomAD
CA6673259 rs759085700	310	H>Y		No	ClinGen ExAC gnomAD
CA385627834 rs1592632419	311	T>S		No	ClinGen Ensembl
rs372901585 CA238318772	312	Y>H		No	ClinGen ESP gnomAD
rs149629233 CA6673260	313	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760379312 CA6673262	314	E>V		No	ClinGen ExAC gnomAD
CA385627907 rs1474963728	316	N>I		No	ClinGen gnomAD
rs1460444163 CA385627938	318	L>S		No	ClinGen gnomAD
rs1425488952 CA385627934	318	L>V		No	ClinGen gnomAD
rs528911976 CA238318793	321	T>I		No	ClinGen 1000Genomes
rs1310486046 CA385627997	322	L>S		No	ClinGen TOPMed gnomAD
rs952568110 CA238318801	322	L>V		No	ClinGen TOPMed gnomAD
rs753585758 CA6673264	324	N>S		No	ClinGen ExAC gnomAD
CA6673266 rs765599639	325	H>Q		No	ClinGen ExAC gnomAD
rs757502364 CA6673265	325	H>R		No	ClinGen ExAC gnomAD
CA238318805 rs533284155	325	H>Y		No	ClinGen gnomAD
rs1251275357 CA385628041	326	M>T		No	ClinGen gnomAD
CA238318816 rs926973997	329	H>L		No	ClinGen TOPMed
rs1191114721 CA385628087	330	A>T		No	ClinGen TOPMed
CA385628102 rs1346255629	331	A>T		No	ClinGen gnomAD
rs1003917263 CA238318820	333	E>G		No	ClinGen Ensembl
rs34614511 CA6673267	334	S>F		No	ClinGen ExAC gnomAD
rs1485500712 CA385628146	335	L>R		No	ClinGen TOPMed gnomAD
CA385628141 rs1477185875	335	L>V		No	ClinGen TOPMed
CA238318831 rs1015255902	340	D>G		No	ClinGen Ensembl
rs758612313 CA6673268	340	D>H		No	ClinGen ExAC gnomAD
rs780424852 CA6673269	342	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	343	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385628224 rs1450391472	343	V>M		No	ClinGen TOPMed
CA6673272 rs755455094	345	T>I		No	ClinGen ExAC TOPMed gnomAD
rs148395216 CA6673274	346	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	350	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879157264 CA238318888	350	C>Y		No	ClinGen gnomAD
CA238318893 rs921438792	351	V>I		No	ClinGen gnomAD
CA6673275 rs770537589	353	P>S		No	ClinGen ExAC gnomAD
CA385628310 rs1332243767	355	D>E		No	ClinGen gnomAD
CA385628304 rs1316598181	355	D>N		No	ClinGen TOPMed gnomAD
CA385628311 rs1237124573	356	L>F		No	ClinGen TOPMed gnomAD
CA6673277 rs745367368	358	H>R		No	ClinGen ExAC gnomAD
CA385628348 rs1288451262	361	R>K		No	ClinGen gnomAD
CA238318909 rs915361619	362	A>V		No	ClinGen Ensembl
rs760599128 CA6673280	363	I>V		No	ClinGen ExAC gnomAD
rs1267788399 CA385628364 COSM272767	364	A>T	Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA238318924 rs1037577527	365	F>S		No	ClinGen TOPMed gnomAD
CA6673282 rs774907291	365	F>V		No	ClinGen ExAC TOPMed gnomAD
rs761752774 CA6673283	366	S>*		No	ClinGen ExAC gnomAD
rs765546598 CA6673284	369	D>G		No	ClinGen ExAC gnomAD
TCGA novel	371	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763273859 CA6673286	372	K>R		No	ClinGen ExAC gnomAD
CA385628437 rs1288714217	374	P>L		No	ClinGen gnomAD
CA385628447 rs1301916946	376	W>*		No	ClinGen gnomAD
CA385628450 rs1370841728	376	W>*		No	ClinGen gnomAD
CA385628457 rs1240978202	377	H>R		No	ClinGen gnomAD
CA385628476 rs1309153688	380	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6673289 rs755473288	381	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1265864852 CA385628489	382	V>I		No	ClinGen TOPMed gnomAD
CA6673291 COSM942649 rs144350290	383	E>K	Variant assessed as Somatic; 9.245e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6673293 rs151185089	385	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418198396 CA385628534	389	I>V		No	ClinGen gnomAD
rs779565195 CA6673297	391	T>A		No	ClinGen ExAC gnomAD
CA385628552 rs1198169182	391	T>I		No	ClinGen TOPMed
rs371956079 CA238318958	394	P>L		No	ClinGen ESP
CA385628567 rs1324527656	394	P>S		No	ClinGen TOPMed
TCGA novel	395	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746529722 CA6673298	395	E>K		No	ClinGen ExAC TOPMed gnomAD
rs867002472 CA238318964	396	N>D		No	ClinGen Ensembl
TCGA novel	396	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385628589 rs1217523592	397	S>*		No	ClinGen TOPMed
rs1565636615 CA385628597	398	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA385628604 rs776770162	399	D>E		No	ClinGen ExAC TOPMed gnomAD
CA238318995 rs1008238574	399	D>G		No	ClinGen TOPMed
rs1012792797 COSM311745 CA238318984	399	D>N	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1048697145 CA238319014	401	A>T		No	ClinGen gnomAD
rs1329038932 CA385628630	403	N>S		No	ClinGen TOPMed
CA385628640 rs769649903	404	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	405	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	406	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206510365 CA385628666	408	D>H		No	ClinGen gnomAD
rs1230717345 CA385628670	408	D>V		No	ClinGen gnomAD
rs1480041743 CA385628673	409	E>*		No	ClinGen gnomAD
CA385628679 rs1181882011	409	E>D		No	ClinGen gnomAD
rs763218921 CA6673305	410	V>I		No	ClinGen ExAC gnomAD
rs759582048 CA6673308	413	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1173129388 CA385628769	418	V>I		No	ClinGen gnomAD
CA6673309 rs535502212	420	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA238319038 rs888232614	421	T>A		No	ClinGen TOPMed
CA385628815 rs1441595966	421	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs888232614 CA238319035	421	T>P		No	ClinGen TOPMed
TCGA novel	423	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673310 rs145110411	423	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385628864 rs1413148929	425	G>D		No	ClinGen gnomAD
CA385628870 rs1340862923	426	D>N		No	ClinGen gnomAD
CA238319060 rs369545933	427	H>R		No	ClinGen ESP
rs1270819076 CA385628908	428	I>T		No	ClinGen gnomAD
COSM3812798 rs1306787871 CA385628920	429	W>*	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6673313 COSM3812798 rs754220573	429	W>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA605708842 rs1484520655	431	N>PNEISFH*		No	ClinGen gnomAD
CA385628961 rs758025344	432	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6673314 rs758025344	432	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6673315 rs779610752	432	G>V		No	ClinGen ExAC gnomAD
CA385629020 rs1565636725	435	E>D		No	ClinGen Ensembl
CA6673316 rs374004270	436	I>T		No	ClinGen ESP ExAC TOPMed
rs768121863 CA6673317	439	E>G		No	ClinGen ExAC
CA385629063 rs1478373502	439	E>K		No	ClinGen TOPMed gnomAD
CA6673318 rs780857773	443	V>I		No	ClinGen ExAC gnomAD
CA385629150 rs1418010176	444	Q>H		No	ClinGen TOPMed gnomAD
CA6673319 rs748040801	446	D>N		No	ClinGen ExAC
rs1176950733 CA385629188	447	Q>*		No	ClinGen gnomAD
rs574563220 CA6673321	456	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769875630 CA6673320	456	R>W		No	ClinGen ExAC TOPMed gnomAD
CA385629411 rs1312531487	457	D>E		No	ClinGen gnomAD
CA238319105 rs954431500	457	D>N		No	ClinGen TOPMed
CA385629398 rs954431500	457	D>Y		No	ClinGen TOPMed
rs141151295 CA6673322	458	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs771160040 CA6673323	459	V>L		No	ClinGen ExAC gnomAD
CA6673325 rs762166934	461	A>T		No	ClinGen ExAC gnomAD
rs1219729586 CA385629507	462	L>V		No	ClinGen gnomAD
CA6673326 CA385629581 COSM942651 rs759655454	464	M>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC gnomAD NCI-TCGA
TCGA novel	464	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	466	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767428730 CA6673327	466	C>Y		No	ClinGen ExAC gnomAD
rs777924309 CA385629652	467	S>C		No	ClinGen TOPMed gnomAD
rs777924309 CA238319127	467	S>F		No	ClinGen TOPMed gnomAD
CA6673329 rs775555709	473	I>V		No	ClinGen ExAC gnomAD
rs966836203 CA238319154	476	K>E		No	ClinGen Ensembl
rs978121061 CA238319159	476	K>N		No	ClinGen Ensembl
TCGA novel	477	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397383137 CA385629823	477	G>R		No	ClinGen gnomAD
rs761117792 CA6673332	478	G>A		No	ClinGen ExAC gnomAD
CA385629847 rs761117792	478	G>E		No	ClinGen ExAC gnomAD
rs992507847 CA238319164	479	C>G		No	ClinGen TOPMed gnomAD
rs1316028317 CA385629900	480	G>E		No	ClinGen gnomAD
CA6673333 rs764613430	480	G>R		No	ClinGen ExAC gnomAD
CA385629931 rs1446672350	481	K>N		No	ClinGen TOPMed gnomAD
rs754167724 CA6673334	482	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1327885421 CA385629976	484	I>V		No	ClinGen gnomAD
rs766053942 CA6673336	485	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1309273966 CA385630586	486	S>G		No	ClinGen gnomAD
CA6673337 rs751110567	486	S>R		No	ClinGen ExAC TOPMed gnomAD
CA385630589 rs1352482305	486	S>T		No	ClinGen gnomAD
CA6673338 rs754676652	487	R>C		No	ClinGen ExAC gnomAD
rs754676652 CA385630593	487	R>G		No	ClinGen ExAC gnomAD
RCV000955447 CA6673339 rs116424321	487	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1214652997 CA385630596	488	L>I		No	ClinGen gnomAD
CA385630606 rs1255452502	489	F>C		No	ClinGen TOPMed gnomAD
CA385630623 rs1467471785	491	H>R		No	ClinGen gnomAD
rs544123650 CA238323378	494	Q>*		No	ClinGen 1000Genomes
CA238323385 rs920403362	499	E>Q		No	ClinGen TOPMed gnomAD
rs1471309475 CA385630687	500	V>L		No	ClinGen gnomAD
rs1592633081 CA385630692	501	K>E		No	ClinGen Ensembl
TCGA novel	503	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771324513 CA238323386	503	A>S		No	ClinGen TOPMed gnomAD
rs777909098 CA6673343	505	E>A		No	ClinGen ExAC TOPMed gnomAD
rs75770066 CA6673344	506	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385630727 rs1392208970	506	D>N		No	ClinGen gnomAD
rs1336981532 CA385630770	511	Q>R		No	ClinGen gnomAD
CA6673346 rs774199485	513	A>V		No	ClinGen ExAC gnomAD
CA6673347 rs746018889	515	E>V		No	ClinGen ExAC gnomAD
CA6673349 rs140603418	517	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673348 rs140603418	517	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs143713432 CA6673350	518	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6673351 rs764560310	519	T>A		No	ClinGen ExAC TOPMed
rs1275433822 CA385630839	521	T>I		No	ClinGen gnomAD
CA238323426 rs148126992	522	E>D		No	ClinGen ESP
rs1333406573 CA385630840	522	E>K		No	ClinGen gnomAD
CA6673353 rs141956990	523	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6673354 rs762390862	524	S>R		No	ClinGen ExAC gnomAD
CA385630873 rs1351912855	526	L>P		No	ClinGen TOPMed
rs201414904 CA6673355	528	A>V		No	ClinGen ExAC gnomAD
rs1460782091 CA385630893	529	D>V		No	ClinGen Ensembl
CA6673358 rs767319374	532	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1565636976 CA385630917	533	E>Q		No	ClinGen Ensembl
rs752235269 CA6673359	535	L>M		No	ClinGen ExAC gnomAD
rs1460903093 CA385630943	537	T>A		No	ClinGen gnomAD
rs1168454746 CA385630947	537	T>I		No	ClinGen gnomAD
rs1420459018 CA385630948	538	A>T		No	ClinGen TOPMed
CA6673360 rs148111807	538	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385630960 rs1400700399	540	T>A		No	ClinGen gnomAD
TCGA novel	543	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673363 rs753650085	545	G>D		No	ClinGen ExAC gnomAD
rs1407727661 CA385630991 COSM468787	545	G>S	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6673364 rs757231594	547	L>I		No	ClinGen ExAC gnomAD
rs1192773798 CA385631026	550	K>I		No	ClinGen TOPMed
CA385631037 rs1565637014	552	G>R		No	ClinGen Ensembl
rs1353922749 CA385631050	554	H>Y		No	ClinGen gnomAD
CA605708813 rs1342014039	556	Y>*		No	ClinGen gnomAD
rs772248234 CA6673368	556	Y>C		No	ClinGen ExAC gnomAD
rs747088876 CA385631070	557	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6673370 rs747088876	557	T>S		No	ClinGen ExAC TOPMed gnomAD
CA238323500 rs1010297991	559	C>F		No	ClinGen TOPMed
CA385631086 rs1255618366	560	Q>K		No	ClinGen gnomAD
TCGA novel	561	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385631106 rs1379150365	561	V>I		No	ClinGen TOPMed
rs770182351 CA6673391	563	Y>C		No	ClinGen ExAC gnomAD
CA385631140 rs1271116942	565	F>C		No	ClinGen TOPMed
rs1433381309 CA385631146	566	Y>F		No	ClinGen TOPMed
rs773830259 CA385631152	567	S>A		No	ClinGen ExAC gnomAD
CA6673393 rs149157869	567	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773830259 CA6673392	567	S>T		No	ClinGen ExAC gnomAD
rs368658274 CA6673396	568	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673397 rs372025740	570	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs999642871 CA6673399	571	T>K		No	ClinGen TOPMed gnomAD
rs753255898 CA6673398	571	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6673401 rs761434780	573	M>V		No	ClinGen ExAC gnomAD
rs1565638148 CA385631198	574	T>A		No	ClinGen Ensembl
VAR_061665 CA6673402 rs58589183	575	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6673403 rs750296593	576	N>D		No	ClinGen ExAC TOPMed gnomAD
rs376315655 CA6673404	577	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385631242 rs1187544981	580	K>T		No	ClinGen TOPMed
CA6673406 rs751387588	581	F>V		No	ClinGen ExAC gnomAD
CA238325191 rs1012478691	583	S>A		No	ClinGen TOPMed
rs755166356 COSM1735148 CA6673407	583	S>L	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA385631263 rs1361667386	584	V>F		No	ClinGen gnomAD
rs748166709 CA6673409	585	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6673410 rs756285869	585	R>T		No	ClinGen ExAC gnomAD
CA238325216 rs147138112	586	V>G		No	ClinGen ESP
rs1478018193 CA385631275	586	V>I		No	ClinGen gnomAD
CA385631280 rs1443735354	587	L>Q		No	ClinGen gnomAD
rs749751497 CA6673412	588	V>L		No	ClinGen ExAC gnomAD
CA238325231 rs959307082	592	G>R		No	ClinGen TOPMed gnomAD
rs1340499727 CA385631333	595	V>A		No	ClinGen TOPMed
rs201633650 CA6673415	595	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273576646 CA385631336	596	S>P		No	ClinGen gnomAD
rs746274671 CA6673416	598	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6673417 rs146582207	599	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764748383 CA6673421	602	S>L		No	ClinGen ExAC gnomAD
CA6673419 rs761222933	602	S>T		No	ClinGen ExAC
CA6673423 rs762838224	604	L>*		No	ClinGen ExAC
CA6673422 rs772731913	604	L>I		No	ClinGen ExAC
rs766347508 CA6673424	606	L>*		No	ClinGen ExAC
rs1463511567 CA385631422	609	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	609	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754862759 CA6673427	610	H>P		No	ClinGen ExAC gnomAD
CA385631433 rs1462576099	611	S>P		No	ClinGen gnomAD
rs1592635972 CA385631443	612	K>R		No	ClinGen Ensembl
CA6673429 rs140308412	615	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA385631478 rs149680578	617	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777947796 CA6673431	618	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1484448093 CA385631507	620	G>V		No	ClinGen gnomAD
rs76473015 CA6673450	621	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs76473015 CA6673451	621	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219997744 CA385631518	622	I>F		No	ClinGen TOPMed
CA385631520 rs1237252180	622	I>N		No	ClinGen gnomAD
CA385631521 rs1237252180	622	I>T		No	ClinGen gnomAD
CA385631540 rs1486508360	624	Q>*		No	ClinGen gnomAD
rs779556828 CA6673452	624	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	624	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385631569 rs1417947182	626	P>L		No	ClinGen TOPMed gnomAD
CA238325860 rs61753953	629	E>Q		No	ClinGen Ensembl
CA6673453 rs750874492	630	P>T		No	ClinGen ExAC gnomAD
CA6673454 rs144507658	631	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673455 rs780427434	632	N>K		No	ClinGen ExAC TOPMed gnomAD
rs370596928 CA6673456	634	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673460 rs748795758	636	D>E		No	ClinGen ExAC gnomAD
rs769466347 CA6673458	636	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6673459 rs777463984	636	D>V		No	ClinGen ExAC TOPMed gnomAD
CA385631699 rs1304987432	638	F>L		No	ClinGen gnomAD
CA238325911 rs148447233	640	T>I		No	ClinGen ESP
rs995534218 CA238325925	644	R>K		No	ClinGen Ensembl
TCGA novel	645	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673463 rs773861620	646	C>R		No	ClinGen ExAC TOPMed gnomAD
CA6673465 rs771930143	648	I>T		No	ClinGen ExAC gnomAD
rs75324469 CA6673464 RCV000963969	648	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA385631831 rs1218328856	650	L>I		No	ClinGen gnomAD
CA385631836 rs1246745439	650	L>P		No	ClinGen gnomAD
CA385631840 rs1389683050	651	K>Q		No	ClinGen TOPMed gnomAD
CA385631860 rs1431420373	652	T>I		No	ClinGen TOPMed
rs117680200 CA238325971	653	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764397288 CA6673468	654	H>Q		No	ClinGen ExAC gnomAD
rs760436338 CA6673467	654	H>R		No	ClinGen ExAC gnomAD
rs1004772765 CA238325978	655	R>T		No	ClinGen Ensembl
TCGA novel	656	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477183811 CA385631893	656	A>T		No	ClinGen gnomAD
CA385631899 rs1408924052	657	E>K		No	ClinGen gnomAD
CA6673469 rs754177530	658	S>P		No	ClinGen ExAC gnomAD
rs762129088 CA6673470	660	L>F		No	ClinGen ExAC TOPMed gnomAD
rs765360177 CA6673471	661	I>V		No	ClinGen ExAC gnomAD
rs7137719 CA238325998	662	V>E		No	ClinGen Ensembl
rs1435080810 CA385631964	663	D>G		No	ClinGen gnomAD
CA6673473 rs201815365	663	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435080810 CA385631966	663	D>V		No	ClinGen gnomAD
CA385631959 rs201815365	663	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673474 rs780475854	664	N>S		No	ClinGen ExAC TOPMed gnomAD
CA385631987 rs1374995020	665	A>T		No	ClinGen TOPMed gnomAD
CA6673475 rs751942873	665	A>V		No	ClinGen ExAC gnomAD
rs141108737 CA6673476	666	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673504 rs757912300	669	S>L		No	ClinGen ExAC gnomAD
TCGA novel	670	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143522796 CA6673506 COSM84176	671	R>C	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6673507 rs768747696 COSM1991928	671	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6673509 rs748005915	674	P>L		No	ClinGen ExAC gnomAD
CA6673510 rs146773809	676	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA385632779 rs1226216365	677	D>G		No	ClinGen gnomAD
CA385632793 rs1274211464	678	A>G		No	ClinGen TOPMed gnomAD
rs763245894 CA6673512	681	N>S		No	ClinGen ExAC gnomAD
rs1323985913 CA385632854	683	S>T		No	ClinGen TOPMed
rs1303184093 CA385632873	684	D>V		No	ClinGen TOPMed
CA385632939 rs1193847398	690	I>F		No	ClinGen gnomAD
rs1374672971 CA385632942	690	I>T		No	ClinGen gnomAD
CA385632967 rs1167341493	692	I>M		No	ClinGen gnomAD
rs77230379 CA238328078	692	I>N		No	ClinGen Ensembl
CA385632959 rs1447144920	692	I>V		No	ClinGen TOPMed gnomAD
rs1565640115 CA385632982	693	Q>H		No	ClinGen Ensembl
rs1395376822 CA385632969	693	Q>K		No	ClinGen gnomAD
TCGA novel	693	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673514 rs774515010	695	K>E		No	ClinGen ExAC gnomAD
CA6673515 rs759993364	696	T>A		No	ClinGen ExAC gnomAD
CA385633024 rs1395770231	696	T>I		No	ClinGen gnomAD
rs1367904502 CA385633032	697	F>C		No	ClinGen gnomAD
rs1448373110 CA385633070	700	V>I		No	ClinGen TOPMed
CA6673517 rs372009796	701	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA238328134 rs150421611	701	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA385633089 rs1348946502	701	R>T		No	ClinGen gnomAD
CA6673519 rs569173441	705	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA238328137 rs1036627594	706	D>G		No	ClinGen TOPMed gnomAD
CA6673521 rs758082114	707	A>D		No	ClinGen ExAC TOPMed gnomAD
rs758082114 CA6673522	707	A>G		No	ClinGen ExAC TOPMed gnomAD
CA385633161 rs1463484733	707	A>T		No	ClinGen gnomAD
CA6673523 rs762315935	708	S>N		No	ClinGen ExAC TOPMed gnomAD
rs138227394 CA6673524	710	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA385633195 rs138227394	710	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173559234 CA385633207	711	S>L		No	ClinGen gnomAD
rs765696065 CA6673526	712	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA238328184 rs918043482	713	K>E		No	ClinGen Ensembl
rs1048792749 CA238328190	716	H>Y		No	ClinGen TOPMed
rs149173752 CA6673528	717	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs769411921 CA6673527	717	H>Y		No	ClinGen ExAC gnomAD
rs1471790195 CA385633293	722	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA385633289 rs1414626495	722	S>P		No	ClinGen gnomAD
rs1159097035 CA385633294	723	A>T		No	ClinGen gnomAD
CA385633304 rs1395780565	724	V>G		No	ClinGen gnomAD
CA385633317 rs1180124086	726	T>I		No	ClinGen TOPMed
CA6673537 rs754249949	726	T>P		No	ClinGen ExAC gnomAD
CA385633322 rs1390360889	727	L>S		No	ClinGen gnomAD
CA6673539 rs762483871	729	Q>H		No	ClinGen ExAC gnomAD
CA385633355 rs1290025967	732	N>D		No	ClinGen gnomAD
CA238329976 rs543735430	733	L>V		No	ClinGen 1000Genomes TOPMed
rs994697005 CA238329978	734	Q>E		No	ClinGen gnomAD
rs994697005 CA385633368	734	Q>K		No	ClinGen gnomAD
rs1227505009 CA385633384	736	A>P		No	ClinGen TOPMed gnomAD
CA238329999 rs751289909	736	A>V		No	ClinGen Ensembl
CA385633406 rs1323365474	739	S>*		No	ClinGen gnomAD
CA385633405 rs1323365474	739	S>L		No	ClinGen gnomAD
CA6673540 rs191467977	740	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385633408 rs191467977	740	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751101089 CA6673541	741	F>Y		No	ClinGen ExAC gnomAD
CA385633432 rs1249096540	743	A>E		No	ClinGen TOPMed gnomAD
CA385633429 rs950503069	743	A>P		No	ClinGen TOPMed gnomAD
rs950503069 CA238330003	743	A>T		No	ClinGen TOPMed gnomAD
rs1461817849 CA385633471	747	Q>E		No	ClinGen TOPMed
rs901614562 CA238330385	749	C>R		No	ClinGen TOPMed
rs1484548288 CA385633492	750	D>N		No	ClinGen gnomAD
rs772072453 CA6673552	754	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1429215486 CA385633527	755	C>G		No	ClinGen gnomAD
TCGA novel	755	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775561366 CA6673553	756	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA6673554 rs142138223	759	H>L		No	ClinGen 1000Genomes ExAC
CA385633579 rs1592642159	762	G>S		No	ClinGen Ensembl
rs1592642170 CA385633591	763	H>Q		No	ClinGen Ensembl
CA385633589 rs1388626360	763	H>R		No	ClinGen gnomAD
rs1188759950 CA385633587	763	H>Y		No	ClinGen TOPMed
rs769235535 CA6673555	765	T>A		No	ClinGen ExAC gnomAD
rs776839568 CA6673556	765	T>I		No	ClinGen ExAC gnomAD
CA385633627 rs1440940146	767	D>E		No	ClinGen TOPMed gnomAD
CA6673578 rs759227736	767	D>G		No	ClinGen ExAC gnomAD
rs773737230 CA6673577	767	D>H		No	ClinGen ExAC gnomAD
rs1276263412 CA385633643	769	Q>H		No	ClinGen gnomAD
TCGA novel	771	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774836553 CA6673581	773	V>D		No	ClinGen ExAC gnomAD
rs774836553 CA385633669	773	V>G		No	ClinGen ExAC gnomAD
rs1177225563 CA385633666	773	V>I		No	ClinGen TOPMed
rs968605061 CA238331168	775	G>R		No	ClinGen Ensembl
CA385633688 rs1211096330	776	I>T		No	ClinGen gnomAD
TCGA novel	777	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385633691 rs1266742424	777	G>S		No	ClinGen gnomAD
rs763931667 CA6673584	781	C>F		No	ClinGen ExAC TOPMed gnomAD
rs763931667 CA6673583	781	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs375704546 CA6673585	782	C>F		No	ClinGen ESP ExAC gnomAD
rs1222307834 CA385633728	782	C>R		No	ClinGen gnomAD
CA6673587 rs750249601	783	T>I		No	ClinGen ExAC gnomAD
rs1254114075 CA385633746	785	N>D		No	ClinGen TOPMed
CA6673588 rs758587182	785	N>K		No	ClinGen ExAC gnomAD
rs1156884921 CA385633770	788	L>P		No	ClinGen TOPMed gnomAD
CA385633767 rs1473427013	788	L>V		No	ClinGen gnomAD
CA6673591 rs143275731	790	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA385633788 rs1324952420	791	L>*		No	ClinGen gnomAD
rs781146344 CA6673592	793	P>L		No	ClinGen ExAC gnomAD
CA385633798 rs992496895	793	P>S		No	ClinGen TOPMed gnomAD
rs992496895 CA238331252	793	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	795	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385633818 rs1274678218	796	I>V		No	ClinGen gnomAD
CA385633833 rs1298676821	798	G>E		No	ClinGen TOPMed
TCGA novel	800	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385633845 rs1351525031	800	Q>E		No	ClinGen gnomAD
CA385633861 rs1287004582	802	N>D		No	ClinGen TOPMed gnomAD
CA6673594 rs779331240	802	N>S		No	ClinGen ExAC gnomAD
CA385633879 rs1229017966	804	D>E		No	ClinGen gnomAD
rs915543423 CA238331282	804	D>G		No	ClinGen TOPMed
CA6673595 rs770457329	804	D>N		No	ClinGen ExAC
CA385633894 rs1292084260	807	A>T		No	ClinGen gnomAD
rs1450126411 CA385633905	808	S>T		No	ClinGen gnomAD
CA6673596 rs773684364	809	S>R		No	ClinGen ExAC TOPMed gnomAD
rs749722962 CA6673597	810	E>D		No	ClinGen ExAC gnomAD
TCGA novel	811	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746415381 CA6673598	815	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1175581370 CA385633959	816	L>P		No	ClinGen TOPMed
rs761698298 CA6673603	818	D>G		No	ClinGen ExAC TOPMed gnomAD
rs776024795 CA6673602	818	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6673604 rs201332927	820	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385633983 rs1164548301	820	A>P		No	ClinGen TOPMed gnomAD
TCGA novel	822	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673605 rs552894297	824	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6673606 rs200763833	824	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385634012 rs200763833	824	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779712412 CA238331364	825	D>H		No	ClinGen gnomAD
rs755181246 CA6673609	830	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201511089 CA6673610	831	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369506664 CA6673611	831	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA385634063 rs1226007704	832	L>Q		No	ClinGen TOPMed
rs1275626484 CA385634075	834	N>D		No	ClinGen gnomAD
CA6673613 rs778478457	834	N>S		No	ClinGen ExAC gnomAD
rs1314007547 CA385634081	835	G>R		No	ClinGen TOPMed
rs768261868 CA6673614	837	I>R		No	ClinGen ExAC TOPMed gnomAD
rs1442978929 CA385634120	840	I>V		No	ClinGen TOPMed gnomAD
CA6673647 rs759310437	843	D>G		No	ClinGen ExAC gnomAD
rs1396653883 CA385634419	845	T>I		No	ClinGen Ensembl
rs1157719474 CA385634458	847	V>A		No	ClinGen TOPMed
CA6673649 rs199887842	847	V>I		No	ClinGen ExAC gnomAD
rs1405516403 CA385634470	848	T>I		No	ClinGen TOPMed
rs755634023 CA238331884	849	F>S		No	ClinGen TOPMed gnomAD
rs760988570 CA6673650	850	G>V		No	ClinGen ExAC gnomAD
TCGA novel	852	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1388721923 CA385634622	854	S>Y		No	ClinGen gnomAD
CA385634692 rs1321777116	856	T>A		No	ClinGen gnomAD
CA6673652 rs764217559	857	I>L		No	ClinGen ExAC gnomAD
rs754001459 CA6673653	858	N>S		No	ClinGen ExAC gnomAD
CA385634750 rs1592643748	859	N>S		No	ClinGen Ensembl
rs757749347 CA6673654	861	A>T		No	ClinGen ExAC TOPMed gnomAD
CA385634880 rs779338182	862	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6673655 rs779338182	862	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6673657 rs758625349	864	E>G		No	ClinGen ExAC gnomAD
rs780411301 CA6673658	865	V>I		No	ClinGen ExAC gnomAD
CA385634973 rs1370937255	866	T>S		No	ClinGen TOPMed
CA385635057 rs1266176990	868	D>G		No	ClinGen gnomAD
rs1490289025 CA385635070	869	F>L		No	ClinGen gnomAD
TCGA novel	870	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385635116 rs1323632361	871	K>N		No	ClinGen TOPMed
CA6673659 rs747752813	873	M>L		No	ClinGen ExAC TOPMed gnomAD
CA385635189 rs1320813430	876	C>*		No	ClinGen Ensembl
CA385635174 rs1436549072	876	C>R		No	ClinGen Ensembl
rs1487393916 CA385635181	876	C>Y		No	ClinGen gnomAD
CA6673661 rs141160603	877	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368474548 COSM194224 CA6673662	877	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368474548 CA385635206	877	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774224675 CA6673665	880	H>L		No	ClinGen ExAC gnomAD
CA238331946 rs754355751	880	H>Q		No	ClinGen Ensembl
TCGA novel	882	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745819321 CA6673666	883	A>T		No	ClinGen ExAC gnomAD
rs1298081782 CA385635299	883	A>V		No	ClinGen TOPMed
rs771702939 CA6673667	884	R>K		No	ClinGen ExAC gnomAD
CA385635328 rs1390726830	886	I>V		No	ClinGen gnomAD
rs1251157542 CA385635351	887	H>P		No	ClinGen gnomAD
rs760938641 CA6673669	888	T>A		No	ClinGen ExAC gnomAD
CA238336670 rs1031790043	891	G>R		No	ClinGen TOPMed
TCGA novel	892	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201102571 CA6673693	893	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372683245 CA6673695	895	Q>R		No	ClinGen ESP ExAC TOPMed
CA385635502 rs1436566349	898	V>A		No	ClinGen gnomAD
CA385635500 rs1388775892	898	V>F		No	ClinGen TOPMed gnomAD
rs767877148 CA6673697	899	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA385635517 rs1214417788	901	V>M		No	ClinGen gnomAD
rs1433138155 CA385635526	902	G>E		No	ClinGen TOPMed
rs753370271 CA6673698	904	A>V		No	ClinGen ExAC TOPMed gnomAD
CA385635545 rs1314515848	905	G>D		No	ClinGen gnomAD
rs139082430 COSM266662 CA6673700	906	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs139082430 CA385635549	906	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6673701 rs149917565	906	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	906	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210603208 CA385635558	907	Q>H		No	ClinGen gnomAD
CA6673702 rs758386388	909	W>G		No	ClinGen ExAC gnomAD
CA238336754 rs758386388	909	W>R		No	ClinGen ExAC gnomAD
rs1475203769 CA385635577	910	Q>*		No	ClinGen gnomAD
CA6673703 rs780197039	910	Q>H		No	ClinGen ExAC gnomAD
rs548647632 CA6673704	911	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1431196712 CA385635590	912	V>L		No	ClinGen gnomAD
CA238336793 rs868419269	913	Y>H		No	ClinGen Ensembl
rs1592647427 CA385635597	913	Y>S		No	ClinGen Ensembl
rs959398981 CA238336804	914	T>N		No	ClinGen TOPMed gnomAD
CA385635602 rs1592647430	914	T>P		No	ClinGen Ensembl
CA385635608 rs781063275	915	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6673706 rs781063275	915	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6673708 rs770097014	916	V>M		No	ClinGen ExAC gnomAD
rs933994863 CA238336810	917	T>S		No	ClinGen Ensembl
rs1294871454 CA385635623	918	R>W		No	ClinGen gnomAD
TCGA novel	919	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771426839 CA6673711 COSM123564	920	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1283218484 CA385635637	920	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1295570749 CA385635645	921	C>Y		No	ClinGen TOPMed
rs546363211 CA6673713	922	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6673712 rs546363211	922	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767817402 CA6673714	922	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA238336859 rs931550559	923	V>G		No	ClinGen TOPMed gnomAD
rs753133796 CA6673715	923	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6673717 rs754806201	924	Y>*		No	ClinGen ExAC gnomAD
rs761337598 CA6673716	924	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6673718 rs369098624	926	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758048496 CA6673719	927	A>T		No	ClinGen ExAC gnomAD
TCGA novel	928	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779714735 CA6673720	930	S>P		No	ClinGen ExAC gnomAD
CA385635702 rs1565644271	931	Q>R		No	ClinGen Ensembl
CA6673722 rs754997992	933	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6673721 rs537042661	933	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs780821088 CA6673723	934	N>S		No	ClinGen ExAC gnomAD
rs748026827 CA6673724	937	M>I		No	ClinGen ExAC gnomAD
rs1193227469 CA385635744	938	K>E		No	ClinGen TOPMed
rs904350023 CA238336909	938	K>R		No	ClinGen Ensembl
TCGA novel	939	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355589780 CA385635763	940	S>N		No	ClinGen gnomAD
CA6673726 rs769897180 CA6673727	941	F>L		No	ClinGen ExAC gnomAD
rs749520092 CA6673728	942	P>T		No	ClinGen ExAC gnomAD
rs770944311 CA6673729	943	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1228908122 CA385635792	945	T>A		No	ClinGen gnomAD
CA238336981 rs774433175	946	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6673731 rs774433175	946	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6673732 rs141338855	946	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6673730 rs774433175	946	R>S		No	ClinGen ExAC TOPMed gnomAD
rs775693346 CA6673733	947	L>W		No	ClinGen ExAC
rs1592647535 CA385635808	948	K>T		No	ClinGen Ensembl
rs761157237 CA6673734	949	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6673736 rs764792235 CA6673735	950	F>L		No	ClinGen ExAC gnomAD
rs1285586474 CA385635842	953	S>G		No	ClinGen gnomAD
TCGA novel	958	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673739 rs146761912	959	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6673741 rs767550787	960	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6673742 rs140474909	960	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755874929 CA6673743	961	P>H		No	ClinGen ExAC gnomAD
CA6673744 rs755874929	961	P>L		No	ClinGen ExAC gnomAD
CA238337000 rs369719142	961	P>S		No	ClinGen ESP TOPMed gnomAD
CA385635896 rs1325206059	962	P>S		No	ClinGen TOPMed
CA6673745 rs541597439	964	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA6673746 rs757497848	965	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1185244 CA6673747 VAR_043858	966	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6673748 rs151043633	967	S>Y		No	ClinGen ESP ExAC gnomAD
rs1380918048 CA385635935	968	P>L		No	ClinGen gnomAD
CA6673751 rs747474183	969	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747474183 CA238337043	969	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776130336 CA6673750	969	R>W		No	ClinGen ExAC TOPMed gnomAD
CA238337049 rs774757165	971	S>G		No	ClinGen TOPMed gnomAD
rs377625321 CA238337051	971	S>R		No	ClinGen ESP TOPMed gnomAD
rs140987785 CA6673752	973	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140987785 CA385635962	973	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6673753 rs777167225	975	S>G		No	ClinGen ExAC TOPMed gnomAD
CA385635981 rs1274201669	976	G>*		No	ClinGen TOPMed
CA6673755 rs766184863	976	G>E		No	ClinGen ExAC gnomAD
CA6673757 rs759155806	978	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1025406786 CA385635991	978	P>S		No	ClinGen TOPMed gnomAD
rs1025406786 CA238337065	978	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	979	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	979	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276570106 CA385636004	980	T>A		No	ClinGen TOPMed
CA6673759 rs1168312 VAR_043859	980	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs532858164 CA6673761	981	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6673760 rs532858164	981	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779166296 CA6673764	983	A>V		No	ClinGen ExAC TOPMed gnomAD
CA385636027 rs1357041693	984	S>F		No	ClinGen gnomAD
CA6673765 rs147917939	985	P>Q		No	ClinGen ESP ExAC TOPMed
rs1298623418 CA385636042	987	P>R		No	ClinGen gnomAD
CA6673768 rs747509975	988	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6673767 rs780011936	988	V>I		No	ClinGen ExAC gnomAD
rs780011936 CA385636045	988	V>L		No	ClinGen ExAC gnomAD
rs769082756 CA6673769	989	V>L		No	ClinGen ExAC gnomAD
CA6673770 rs777112164	990	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA385636054 rs1345688648	990	T>P		No	ClinGen TOPMed gnomAD
CA385636065 rs1460498181	991	D>E		No	ClinGen TOPMed gnomAD
rs748580081 CA6673771	991	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6673773 rs774078070	993	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757512367 CA238337136	994	M>I		No	ClinGen Ensembl
TCGA novel	994	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6673774 rs759121470	994	M>V		No	ClinGen ExAC gnomAD
CA385636089 rs1191548367	995	T>K		No	ClinGen gnomAD
CA6673775 rs771558258	997	D>Y		No	ClinGen ExAC gnomAD
rs973229500 CA238337150	998	V>L		No	ClinGen TOPMed gnomAD
CA385636117 rs1482159011	999	T>I		No	ClinGen TOPMed
CA6673776 rs774897972	1001	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1217393281 CA385636139	1002	E>D		No	ClinGen TOPMed
CA6673778 rs369945825	1002	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216575035 CA385636144	1003	A>D		No	ClinGen gnomAD
rs1321293311 CA385636141	1003	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6673780 rs781585272	1005	S>*		No	ClinGen ExAC TOPMed gnomAD
CA6673781 rs781585272	1005	S>L		No	ClinGen ExAC TOPMed gnomAD
rs73329073 CA6673785 RCV000973495	1013	F>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA385636235 rs1228517924	1017	W>*		No	ClinGen gnomAD
rs1306998906 CA385636240	1017	W>C		No	ClinGen TOPMed
rs1322730970 CA385636233	1017	W>R		No	ClinGen gnomAD
CA6673787 rs751638673	1020	S>P		No	ClinGen ExAC gnomAD
rs868455893 CA238337232	1021	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1592647763 CA385636269	1022	P>R		No	ClinGen Ensembl
CA238337245 rs1053290135	1022	P>S		No	ClinGen Ensembl
CA6673788 rs755495288	1023	D>G		No	ClinGen ExAC gnomAD
rs1452561923 CA385636273	1023	D>Y		No	ClinGen gnomAD
rs770222252 CA6673791	1024	G>A		No	ClinGen ExAC TOPMed gnomAD
rs748666336 COSM1747201 CA6673790	1024	G>R	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA385636286 rs1365623332	1025	V>A		No	ClinGen TOPMed gnomAD
rs1365623332 CA385636287	1025	V>G		No	ClinGen TOPMed gnomAD
rs778300701 CA6673792	1026	D>N		No	ClinGen ExAC gnomAD
rs368164516 CA6673793	1027	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673795 rs771666393	1028	D>A		No	ClinGen ExAC TOPMed gnomAD
CA385636303 rs771666393	1028	D>V		No	ClinGen ExAC TOPMed gnomAD
CA6673796 rs775046593	1029	D>G		No	ClinGen ExAC gnomAD
rs1188916153 CA385636308	1029	D>H		No	ClinGen TOPMed
rs1297130365 CA385636319	1030	D>G		No	ClinGen Ensembl
rs768578800 CA6673798	1032	P>L		No	ClinGen ExAC
CA6673797 rs760164483	1032	P>S		No	ClinGen ExAC gnomAD
CA385636340 rs1309010682	1033	K>N		No	ClinGen gnomAD
CA238337303 rs1013878533	1034	S>L		No	ClinGen TOPMed gnomAD
CA238337301 rs1013878533	1034	S>W		No	ClinGen TOPMed gnomAD
rs761753504 CA6673800	1035	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6673801 rs764963038	1035	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149648534 CA6673802	1036	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6673804 rs143444957	1038	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143444957 CA6673803	1038	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA385636381 rs1592647820	1041	C>Y		No	ClinGen Ensembl
CA385636388 rs1253197709	1042	G>D		No	ClinGen gnomAD
rs1014141896 CA238337331	1042	G>S		No	ClinGen TOPMed
rs568530085 CA6673806	1043	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA6673810 rs137923675	1045	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6673808 rs753202525	1045	D>G		No	ClinGen ExAC gnomAD
rs1422388590 CA385636416	1046	D>E		No	ClinGen TOPMed gnomAD
CA6673811 rs749668012	1046	D>N		No	ClinGen ExAC TOPMed gnomAD
rs78610206 CA238337349	1047	E>*		No	ClinGen Ensembl
rs368713751 CA238337358	1050	S>G		No	ClinGen Ensembl
TCGA novel	1050	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385636443 rs1161976813	1050	S>R		No	ClinGen TOPMed
rs376165330 CA6673814	1054	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs112802946 CA6673813	1054	M>V		No	ClinGen ExAC TOPMed gnomAD
CA385636848 rs769717600	1055	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6673835 rs769717600	1055	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6673836 rs772954417	1056	G>A		No	ClinGen ExAC gnomAD
CA385636855 rs1215567219	1056	G>R		No	ClinGen gnomAD
rs1331987788 CA385636859	1057	E>Q		No	ClinGen TOPMed
TCGA novel	1059	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200003330 CA238340786	1066	Q>R		No	ClinGen TOPMed
rs370398244 CA6673840	1067	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs961388545 CA238340795	1069	R>I		No	ClinGen TOPMed
CA385636940 rs961388545	1069	R>K		No	ClinGen TOPMed
rs374119549 CA238340797	1077	Q>R		No	ClinGen ESP TOPMed
rs1242835444 CA385637003	1078	L>P		No	ClinGen gnomAD
rs775702143 CA6673843	1079	F>L		No	ClinGen ExAC gnomAD
CA6673844 rs764240608	1081	P>S		No	ClinGen ExAC gnomAD
CA6673845 rs754242417	1082	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1427655751 CA385637029	1082	T>I		No	ClinGen gnomAD
CA6673847 rs765480348	1084	N>D		No	ClinGen ExAC gnomAD
rs933263821 CA238340839	1087	T>A		No	ClinGen Ensembl
rs199608348 CA6673848	1087	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385637063 rs199608348	1087	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6673849 rs754611664	1088	T>W		No	ClinGen ExAC gnomAD

No associated diseases with Q8NG08

10 regional properties for Q8NG08

Type	Name	Position	InterPro Accession
domain	SH3 domain	6 - 67	IPR001452
domain	Dedicator of cytokinesis protein 3, DHR2 domain	1232 - 1623	IPR026800
domain	C2 DOCK-type domain	417 - 606	IPR027007
domain	DOCKER domain	1225 - 1632	IPR027357
domain	Dedicator of cytokinesis, N-terminal domain	70 - 412	IPR032376
domain	Dedicator of cytokinesis 3, SH3 domain	10 - 65	IPR035767
domain	Dedicator of cytokinesis B, C2 domain	420 - 608	IPR037811
domain	DOCKER, Lobe A	1219 - 1343	IPR046769
domain	DOCKER, Lobe B	1401 - 1483	IPR046770
domain	DOCKER, Lobe C	1526 - 1624	IPR046773

Functions

		Description
EC Number	3.6.4.12	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Cytoplasm Chromosome	Predominantly nuclear (PubMed:15146062) Phosphorylation at Ser-967 by CDK2 during the G1/S transition results in its nuclear export into the cytoplasm as cells approach and progress through S phase (PubMed:15146062) Following DNA damage, recruited to sites of double-strand breaks by the RPA complex (PubMed:26774285) Recruited to chromatin following DNA damage induced by UV irradiation, or camptothecin or hydroxyurea treatment (PubMed:22194613)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

6 GO annotations of molecular function

Name	Definition
5'-3' DNA helicase activity	Unwinding a DNA helix in the 5' to 3' direction, driven by ATP hydrolysis.
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.
protein-containing complex binding	Binding to a macromolecular complex.
RNA binding	Binding to an RNA molecule or a portion thereof.
single-stranded DNA helicase activity	Catalysis of the reaction: ATP + H2O = ADP + phosphate, in the presence of single-stranded DNA; drives the unwinding of a DNA helix.

7 GO annotations of biological process

Name	Definition
cellular response to DNA damage 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
DNA replication, synthesis of RNA primer	The synthesis of a short RNA polymer, usually 4-15 nucleotides long, using one strand of unwound DNA as a template; the RNA then serves as a primer from which DNA polymerases extend synthesis.
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.
negative regulation of double-strand break repair via homologous recombination	Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination.
regulation of DNA double-strand break processing	Any process that modulates the frequency, rate or extent of DNA double-strand break processing.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43329	hrpA	ATP-dependent RNA helicase HrpA	Escherichia coli (strain K12)	PR
Q6NVF4	Helb	DNA helicase B	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MARSSPYLRQ	LQGPLLPPRD	LVEEDDDYLN	DDVEEDEESV	FIDAEELCSG	GVKAGSLPGC
70	80	90	100	110	120
LRVSICDENT	QETCKVFGRF	PITGAWWRVK	VQVKPVVGSR	SYQYQVQGFP	SYFLQSDMSP
130	140	150	160	170	180
PNQKHICALF	LKECEVSSDD	VNKFLTWVKE	VSNYKNLNFE	NLRETLRTFH	KETGRKDQKQ
190	200	210	220	230	240
PTQNGQEELF	LDNEMSLPLE	NTIPFRNVMT	ALQFPKIMEF	LPVLLPRHFK	WIIGSGSKEM
250	260	270	280	290	300
LKEIEEILGT	HPWKLGFSKI	TYREWKLLRC	EASWIAFCQC	ESLLQLMTDL	EKNALIMYSR
310	320	330	340	350	360
LKQICREDGH	TYVEVNDLTL	TLSNHMSFHA	ASESLKFLKD	IGVVTYEKSC	VFPYDLYHAE
370	380	390	400	410	420
RAIAFSICDL	MKKPPWHLCV	DVEKVLASIH	TTKPENSSDD	ALNESKPDEV	RLENPVDVVD
430	440	450	460	470	480
TQDNGDHIWT	NGENEINAEI	SEVQLDQDQV	EVPLDRDQVA	ALEMICSNPV	TVISGKGGCG
490	500	510	520	530	540
KTTIVSRLFK	HIEQLEEREV	KKACEDFEQD	QNASEEWITF	TEQSQLEADK	AIEVLLTAPT
550	560	570	580	590	600
GKAAGLLRQK	TGLHAYTLCQ	VNYSFYSWTQ	TMMTTNKPWK	FSSVRVLVVD	EGSLVSVGIF
610	620	630	640	650	660
KSVLNLLCEH	SKLSKLIILG	DIRQLPSIEP	GNLLKDLFET	LKSRNCAIEL	KTNHRAESQL
670	680	690	700	710	720
IVDNATRISR	RQFPKFDAEL	NISDNPTLPI	SIQDKTFIFV	RLPEEDASSQ	SSKTNHHSCL
730	740	750	760	770	780
YSAVKTLLQE	NNLQNAKTSQ	FIAFRRQDCD	LINDCCCKHY	TGHLTKDHQS	RLVFGIGDKI
790	800	810	820	830	840
CCTRNAYLSD	LLPENISGSQ	QNNDLDASSE	DFSGTLPDFA	KNKRDFESNV	RLCNGEIFFI
850	860	870	880	890	900
TNDVTDVTFG	KRRSLTINNM	AGLEVTVDFK	KLMKYCRIKH	AWARTIHTFQ	GSEEQTVVYV
910	920	930	940	950	960
VGKAGRQHWQ	HVYTAVTRGR	CRVYVIAEES	QLRNAIMKNS	FPRKTRLKHF	LQSKLSSSGA
970	980	990	1000	1010	1020
PPADFPSPRK	SSGDSGGPST	PSASPLPVVT	DHAMTNDVTW	SEASSPDERT	LTFAERWQLS
1030	1040	1050	1060	1070	1080
SPDGVDTDDD	LPKSRASKRT	CGVNDDESPS	KIFMVGESPQ	VSSRLQNLRL	NNLIPRQLFK

PTDNQET