AiPD: Autoinhibited Protein Database

Q9NY93

Gene name	DDX56 (DDX21, NOH61)
Protein name	Probable ATP-dependent RNA helicase DDX56
Names	ATP-dependent 61 kDa nucleolar RNA helicase, DEAD box protein 21, DEAD box protein 56
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54606
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)

473-547 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

473-547 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9NY93

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NY93-F1	Predicted				AlphaFoldDB

531 variants for Q9NY93

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1562586268 CA367394591	2	E>A		No	ClinGen Ensembl
rs747090840 CA4243207	2	E>K		No	ClinGen ExAC gnomAD
CA4243206 rs144899186	3	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554291815 CA4243204	5	E>K		No	ClinGen Ensembl
rs1370103639 CA367394494	6	A>T		No	ClinGen gnomAD
rs1394610581 CA367394456	7	L>R		No	ClinGen gnomAD
rs757028782 CA4243200	8	G>A		No	ClinGen ExAC gnomAD
CA367394436 rs757028782	8	G>D		No	ClinGen ExAC gnomAD
rs1275248761 CA367394391	10	E>*		No	ClinGen TOPMed gnomAD
rs763773210 CA4243198	10	E>D		No	ClinGen ExAC gnomAD
CA367394389 rs1275248761	10	E>Q		No	ClinGen TOPMed gnomAD
rs763335388 CA4243194	12	M>I		No	ClinGen ExAC gnomAD
CA4243195 rs766957713	12	M>R		No	ClinGen ExAC
CA4243196 rs759203246	12	M>V		No	ClinGen ExAC TOPMed gnomAD
rs765538075 CA4243192	13	G>A		No	ClinGen ExAC TOPMed gnomAD
rs201371137 CA4243193	13	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765538075 CA367394230	13	G>V		No	ClinGen ExAC TOPMed gnomAD
CA367394198 rs1450060792	15	D>G		No	ClinGen TOPMed
rs1347076527 CA367394167	17	R>Q		No	ClinGen gnomAD
rs1231737854 CA367394168	17	R>W		No	ClinGen gnomAD
CA157892370 rs1032185138	18	L>P		No	ClinGen TOPMed
rs1309804360 CA367394128	19	L>F		No	ClinGen gnomAD
TCGA novel	20	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749143265 CA4243164	21	A>S		No	ClinGen ExAC gnomAD
rs777678128 CA4243163	22	V>F		No	ClinGen ExAC
rs1217629816 CA367393924	23	T>N		No	ClinGen gnomAD
rs755930488 CA157892155	24	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755930488 CA4243161	24	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1321933713 CA367393859	26	G>D		No	ClinGen TOPMed
CA367393870 rs1476359016	26	G>S		No	ClinGen TOPMed gnomAD
CA4243158 rs754446739	27	W>*		No	ClinGen ExAC gnomAD
rs1203193850 CA367393816	27	W>C		No	ClinGen TOPMed
CA157892088 rs562239553	28	S>W		No	ClinGen 1000Genomes
CA4243157 rs751071523	29	R>*		No	ClinGen ExAC gnomAD
CA367393779 rs1232956673	29	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA367393742 rs1362870313	31	T>A		No	ClinGen gnomAD
CA367393734 rs1272308381	31	T>K		No	ClinGen gnomAD
TCGA novel	31	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367393732 rs1272308381	31	T>R		No	ClinGen gnomAD
CA4243155 rs757733447	32	L>P		No	ClinGen ExAC gnomAD
CA4243154 rs371403776	33	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1241634384 CA367393698	34	Q>K		No	ClinGen TOPMed
CA367393652 rs1396094870	36	K>T		No	ClinGen gnomAD
CA4243153 rs367836849	37	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367393607 rs1419730871	38	I>T		No	ClinGen TOPMed gnomAD
CA4243152 rs760972739	38	I>V		No	ClinGen ExAC gnomAD
CA4243149 rs759592324	39	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4243150 rs143684161	39	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA157892016 rs138133855	42	L>V		No	ClinGen 1000Genomes
CA367393457 rs1469750161	43	E>G		No	ClinGen gnomAD
CA367393382 rs1585174969	46	D>A		No	ClinGen Ensembl
rs561499363 CA4243146	46	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144531413 CA4243145	47	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747905817 CA4243143	48	L>V		No	ClinGen ExAC gnomAD
rs780770124 CA157891980	50	R>G		No	ClinGen ExAC gnomAD
CA4243141 rs768336039	50	R>P		No	ClinGen ExAC gnomAD
rs780770124 CA4243142	50	R>W		No	ClinGen ExAC gnomAD
TCGA novel	52	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369374883 CA367393216	53	T>M		No	ClinGen gnomAD
CA367393222 rs1585174934	53	T>P		No	ClinGen Ensembl
CA367393178 rs1585174932	55	S>F		No	ClinGen Ensembl
CA4243137 rs11548034 CA367393172	56	G>R		No	ClinGen ExAC TOPMed gnomAD
rs11548034 CA157891956	56	G>W		No	ClinGen ExAC TOPMed gnomAD
CA367393156 rs1585174922	57	K>E		No	ClinGen Ensembl
rs187067260 CA4243135	59	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546419232 CA367393073	60	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs546419232 CA4243134	60	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1455547723 CA367393057	61	Y>C		No	ClinGen gnomAD
rs759771308 CA4243132	62	A>S		No	ClinGen ExAC gnomAD
rs575940791 CA4243131	63	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs371386547 CA4243129	66	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA157891925 rs868617034	66	L>V		No	ClinGen TOPMed gnomAD
CA367392939 rs1281531996	67	Q>*		No	ClinGen gnomAD
CA4243128 rs773283552	67	Q>P		No	ClinGen ExAC gnomAD
CA367392918 rs1346360034	68	L>V		No	ClinGen gnomAD
rs542305571 CA4243126	71	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4243124 rs768299618	72	R>K		No	ClinGen ExAC TOPMed gnomAD
rs370902986 CA4243125	72	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270982388 CA367392820	73	K>R		No	ClinGen TOPMed
CA157891888 rs966640805	74	A>T		No	ClinGen TOPMed
CA367392804 rs1369499761	74	A>V		No	ClinGen TOPMed gnomAD
rs770305027 CA4243101	75	T>I		No	ClinGen ExAC gnomAD
CA4243100 rs748709769	77	P>L		No	ClinGen ExAC TOPMed gnomAD
rs36097827 CA157891215	78	V>A		No	ClinGen Ensembl
rs1562585682 CA367392702	79	V>I		No	ClinGen Ensembl
CA157891205 rs925349763	80	E>G		No	ClinGen TOPMed
rs755372485 CA4243098	80	E>K		No	ClinGen ExAC gnomAD
rs755372485 CA367392694	80	E>Q		No	ClinGen ExAC gnomAD
CA157891200 rs1042870700	81	Q>H		No	ClinGen TOPMed
rs747370127 CA4243097	81	Q>P		No	ClinGen ExAC gnomAD
CA367392625 rs1585174303	84	R>G		No	ClinGen Ensembl
CA4243096 rs138025983	84	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs138025983 CA4243095	84	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4243094 rs750638362	85	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1460103249 CA367392574	86	L>P		No	ClinGen gnomAD
rs757229865 CA4243092	86	L>V		No	ClinGen ExAC gnomAD
CA367392555 rs1220975148	88	L>I		No	ClinGen TOPMed
rs377408118 CA4243091	89	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763935833 CA367392511	90	P>L		No	ClinGen ExAC TOPMed
CA4243090 rs763935833	90	P>R		No	ClinGen ExAC TOPMed
rs1430729489 CA367392517	90	P>S		No	ClinGen gnomAD
CA367392505 rs1260065561	91	T>A		No	ClinGen gnomAD
CA157891123 rs199523211	91	T>I		No	ClinGen TOPMed
CA367392494 rs199523211	91	T>S		No	ClinGen TOPMed
rs952262212 CA157891090	92	K>N		No	ClinGen gnomAD
CA4243089 rs760521047	92	K>T		No	ClinGen ExAC gnomAD
rs775244289 CA4243088	93	E>D		No	ClinGen ExAC TOPMed gnomAD
rs200221938 CA4243087	96	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367392401 rs1332237414	96	R>Q		No	ClinGen gnomAD
rs200221938 CA4243086	96	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4243084 rs770487269	98	A>V		No	ClinGen ExAC gnomAD
TCGA novel	100	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs570430371 CA4243082	101	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4243083 rs748675946	101	M>V		No	ClinGen ExAC gnomAD
CA4243080 rs141009542	102	I>T		No	ClinGen ESP ExAC gnomAD
CA4243081 rs769025648	102	I>V		No	ClinGen ExAC gnomAD
CA4243079 rs780600281	104	Q>*		No	ClinGen ExAC gnomAD
rs746108829 CA4243077	105	L>P		No	ClinGen ExAC gnomAD
rs1168767679 CA367392228	106	A>D		No	ClinGen gnomAD
CA367392224 rs1168767679	106	A>V		No	ClinGen gnomAD
CA4243074 rs552221625	108	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs552221625 CA367392195	108	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4243075 rs757427520	108	Y>H		No	ClinGen ExAC gnomAD
CA4243073 rs531180797	109	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151031016 CA367392169	110	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs151031016 CA4243072	110	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4243071 rs752590650	110	A>V		No	ClinGen ExAC gnomAD
rs759267727 CA367392156	111	R>L		No	ClinGen ExAC gnomAD
rs759267727 CA157890966	111	R>P		No	ClinGen ExAC gnomAD
rs759267727 CA4243069	111	R>Q		No	ClinGen ExAC gnomAD
rs767320648 CA4243070	111	R>W		No	ClinGen ExAC TOPMed gnomAD
CA367392139 rs1481396915	112	D>E		No	ClinGen gnomAD
rs751226534 CA4243068	112	D>N		No	ClinGen ExAC TOPMed gnomAD
rs375767107 CA4243067	113	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA367392125 rs1306484908	114	R>G		No	ClinGen TOPMed gnomAD
rs765958501 CA157890929	114	R>Q		No	ClinGen gnomAD
CA4243066 rs762577284	116	A>V		No	ClinGen ExAC gnomAD
CA4243065 rs772570826	117	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4243063 rs761290969	120	A>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	121	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776084561 CA4243062	124	S>L		No	ClinGen ExAC gnomAD
rs1457444180 CA367392049	125	V>A		No	ClinGen TOPMed
CA367392033 rs1435664667	128	R>G		No	ClinGen gnomAD
rs1259387217 CA367391992	129	A>G		No	ClinGen gnomAD
rs769866142 CA4243038	129	A>T		No	ClinGen ExAC gnomAD
rs1259387217 CA367391990	129	A>V		No	ClinGen gnomAD
CA4243037 rs367652205	130	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206810418 CA367391960	132	M>I		No	ClinGen gnomAD
rs1285390559 CA367391955	133	E>K		No	ClinGen TOPMed
rs1027860119 CA157890713	137	V>A		No	ClinGen Ensembl
TCGA novel	138	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371266549 CA367391874	139	V>A		No	ClinGen gnomAD
CA367391851 rs1218880829	141	T>I		No	ClinGen TOPMed
rs779739893 CA4243033	144	R>C		No	ClinGen ExAC gnomAD
COSM3381944 rs961816288 CA367391826	144	R>H	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs961816288 CA367391824	144	R>L		No	ClinGen TOPMed
CA157890699 rs961816288	144	R>P		No	ClinGen TOPMed
CA367391813 rs1447668611	145	I>M		No	ClinGen TOPMed gnomAD
rs7789507 CA4243032	145	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1327539772 CA367391747	149	L>S		No	ClinGen gnomAD
rs374684543 CA4243030	150	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs769063924 CA4243029	152	D>G		No	ClinGen ExAC TOPMed gnomAD
CA157890652 rs201709755	152	D>Y		No	ClinGen 1000Genomes
rs753377319 CA4243028	153	S>R		No	ClinGen ExAC gnomAD
CA367391595 rs556884834 COSM1089969	157	R>C	Variant assessed as Somatic; impact. skin endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs556884834 CA4243027	157	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA157890627 rs111740262	161	E>G		No	ClinGen Ensembl
rs1009034583 CA157890629	161	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1161259173 CA367391483	163	L>S		No	ClinGen gnomAD
rs1562585390 CA367391471	164	V>M		No	ClinGen Ensembl
CA367391437 rs1157358028	166	D>G		No	ClinGen TOPMed
CA4243025 rs535274337	166	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA157890608 rs751828458	167	E>G		No	ClinGen Ensembl
CA4243022 rs775873774	169	D>N		No	ClinGen ExAC gnomAD
CA4243021 rs769986994	170	L>F		No	ClinGen ExAC TOPMed
rs763738678	171	L>missing	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1214354065 CA367391339	172	F>Y		No	ClinGen gnomAD
CA4243019 rs748272486	177	E>G		No	ClinGen ExAC gnomAD
CA157890543 rs910431596	177	E>Q		No	ClinGen TOPMed
TCGA novel	181	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776658648 CA4243018	182	S>G		No	ClinGen ExAC TOPMed gnomAD
CA157890535 rs866430814	182	S>N		No	ClinGen gnomAD
rs1272268908 CA367391080	184	L>I		No	ClinGen gnomAD
rs768738672 CA4243017	185	C>R		No	ClinGen ExAC
rs1365055411 CA367391060	185	C>Y		No	ClinGen gnomAD
CA367390941 rs1272550057	187	L>F		No	ClinGen TOPMed gnomAD
rs1369154474 CA367390952	187	L>M		No	ClinGen gnomAD
rs776779369 CA4242999	188	P>L		No	ClinGen ExAC gnomAD
CA367390916 rs140918826	189	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140918826 CA4242997 COSM1472063	189	R>Q	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4242998 COSM189041 rs62459150	189	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel CA367390868 rs1427515500	191	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
CA367390863 rs1171968078	192	Q>*		No	ClinGen gnomAD
rs1430546021 CA367390848	192	Q>H		No	ClinGen gnomAD
CA4242996 rs775351901	193	A>T		No	ClinGen ExAC TOPMed gnomAD
CA367390807 rs1399099596	196	M>T		No	ClinGen TOPMed
CA367390743 rs1423187230	201	N>K		No	ClinGen TOPMed gnomAD
CA367390734 rs1406902503	202	E>A		No	ClinGen TOPMed
rs149900132 CA4242993	202	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4242991 rs141257729	204	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1585173664 CA367390680	206	A>T		No	ClinGen Ensembl
rs1338584124 CA367390671 COSM3412087	206	A>V	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA367390667 rs1482971978	207	L>I		No	ClinGen gnomAD
rs1243999578 CA367390636	209	E>K		No	ClinGen TOPMed
CA4242989 rs755645631	211	I>V		No	ClinGen ExAC gnomAD
CA367390596 rs1213701918	212	L>I		No	ClinGen TOPMed gnomAD
rs1040462112 CA157890132	213	H>R		No	ClinGen TOPMed
rs1218057861 CA367390543	215	P>A		No	ClinGen gnomAD
CA367390431 rs1422493441	218	L>F		No	ClinGen gnomAD
rs749987638 CA4242964	218	L>P		No	ClinGen ExAC TOPMed gnomAD
rs200906446 CA4242962	222	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4242961 rs200906446	222	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA367390342 rs1249385292	224	Q>R		No	ClinGen gnomAD
rs537020657 CA4242960	226	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	226	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367390313 rs1246529538	227	G>R		No	ClinGen gnomAD
rs759621867 CA4242958	228	P>A		No	ClinGen ExAC gnomAD
CA4242957 rs774495551	229	D>E		No	ClinGen ExAC gnomAD
CA4242956 rs766405612	230	Q>E		No	ClinGen ExAC gnomAD
CA367390273 rs1318624806	232	Q>H		No	ClinGen TOPMed gnomAD
CA367390277 rs1175935773	232	Q>K		No	ClinGen TOPMed
rs762889439 CA4242955	232	Q>R		No	ClinGen ExAC gnomAD
CA367390265 rs1585173093	233	Q>H		No	ClinGen Ensembl
CA367390253 rs1434389586	234	F>L		No	ClinGen gnomAD
CA4242954 rs773024707	236	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1296674521 CA367390224	237	V>F		No	ClinGen TOPMed
CA4242953 rs201691567	238	C>*		No	ClinGen 1000Genomes ExAC gnomAD
CA367390208 rs1295574616	238	C>Y		No	ClinGen gnomAD
TCGA novel	246	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138531895 CA4242946	248	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA367390062 rs1464103560	248	L>P		No	ClinGen gnomAD
CA4242948 rs138531895	248	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000954933 rs41279639 CA4242945	249	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA367390039 rs767845229	250	A>D		No	ClinGen ExAC gnomAD
CA4242943 rs752966392	250	A>S		No	ClinGen ExAC gnomAD
CA4242944 rs752966392	250	A>T		No	ClinGen ExAC gnomAD
CA4242942 rs767845229	250	A>V		No	ClinGen ExAC gnomAD
rs1344242452 CA367390007	253	K>*		No	ClinGen gnomAD
CA367389948 rs1371864902	257	I>M		No	ClinGen gnomAD
CA4242940 rs751665943	257	I>N		No	ClinGen ExAC gnomAD
CA157889128 rs751665943	257	I>T		No	ClinGen ExAC gnomAD
rs145895899 CA4242938	258	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4242937 rs145895899	258	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4242939 rs766456412	258	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4242936 rs200165658	260	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA157889103 rs1004871919	261	S>T		No	ClinGen TOPMed gnomAD
rs945819203 CA157889087	262	L>Q		No	ClinGen TOPMed gnomAD
CA367389886 rs1369095014	263	L>F		No	ClinGen gnomAD
rs890431512 CA157889084	265	V>G		No	ClinGen gnomAD
rs776190071 CA4242935	266	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1377721855 CA367389848	266	N>S		No	ClinGen gnomAD
rs776405497 CA4242934	268	L>V		No	ClinGen ExAC TOPMed gnomAD
CA367389816 rs1431099069	269	E>K		No	ClinGen gnomAD
CA157889066 rs375038290	270	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200686546 COSM168793 CA4242933	270	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs922101918 CA157889043	271	S>N		No	ClinGen Ensembl
rs1562584801 CA367389789	272	Y>F		No	ClinGen Ensembl
CA367389791 rs1562584801	272	Y>S		No	ClinGen Ensembl
rs373129289 CA367389784	273	R>P		No	ClinGen ExAC gnomAD
rs373129289 CA4242930	273	R>Q		No	ClinGen ExAC gnomAD
CA4242931 rs372022006	273	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs201308009 CA4242929	275	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4242926 rs41279636	275	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41279636 CA4242927	275	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4242928 rs201308009	275	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	276	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4242925 rs781613764	277	F>S		No	ClinGen ExAC gnomAD
TCGA novel	279	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751786562 CA4242923	281	F>L		No	ClinGen ExAC gnomAD
CA367389675 rs1585172923	283	I>T		No	ClinGen Ensembl
rs1562584773 CA367389649	285	T>I		No	ClinGen Ensembl
CA367389655 rs1585172920	285	T>P		No	ClinGen Ensembl
rs766584541 CA4242922	286	C>Y		No	ClinGen ExAC gnomAD
rs750375632 CA4242920	289	N>S		No	ClinGen ExAC TOPMed gnomAD
rs750375632 CA367389605	289	N>T		No	ClinGen ExAC TOPMed gnomAD
rs765074860 CA4242919	290	G>E		No	ClinGen ExAC gnomAD
rs367882554 CA4242918	291	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs753603280 CA4242917	291	E>D		No	ClinGen ExAC TOPMed gnomAD
CA367389572 rs1212686780	292	L>F		No	ClinGen TOPMed
CA4242916 rs763840415	292	L>P		No	ClinGen ExAC gnomAD
rs200177535 CA4242915	295	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200177535 CA157888952	295	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4242914 rs775066678	295	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4242913 rs140702133	296	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4242912 rs758962465	297	R>M		No	ClinGen ExAC TOPMed gnomAD
CA367388204 rs1369950401	298	C>R		No	ClinGen gnomAD
rs762244925 CA4242892	300	I>V		No	ClinGen ExAC TOPMed gnomAD
CA157888288 rs954981834	301	I>V		No	ClinGen gnomAD
rs777216419 CA4242891	302	S>L		No	ClinGen ExAC TOPMed gnomAD
rs769144334 CA4242890	304	F>L		No	ClinGen ExAC gnomAD
CA157888267 rs750989628	304	F>V		No	ClinGen Ensembl
rs1358954416 CA367388049	306	Q>*		No	ClinGen gnomAD
rs747370461 CA4242889	306	Q>R		No	ClinGen ExAC gnomAD
rs746066237 CA4242886	310	D>E		No	ClinGen ExAC gnomAD
rs1436723042 CA367387971	310	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	310	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203702318 CA367387943	311	C>S		No	ClinGen TOPMed
rs1405575226 CA367387916	313	I>T		No	ClinGen gnomAD
CA4242884 rs757304943	314	A>G		No	ClinGen ExAC gnomAD
TCGA novel	315	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367387883 rs1161201428	316	D>H		No	ClinGen gnomAD
CA4242883 rs753780480	317	A>S		No	ClinGen ExAC gnomAD
CA4242881 rs777684910	317	A>V		No	ClinGen ExAC TOPMed
CA4242880 rs150431895	319	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752465885 CA4242879	321	G>E		No	ClinGen ExAC gnomAD
rs752465885 CA367387807	321	G>V		No	ClinGen ExAC gnomAD
TCGA novel	321	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767238092 CA4242878	322	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767238092 CA157888193	322	A>T		No	ClinGen ExAC TOPMed gnomAD
rs754618206 CA4242877	322	A>V		No	ClinGen ExAC gnomAD
CA367387789 rs1477904440	323	P>A		No	ClinGen TOPMed
rs141498081 CA4242874	323	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA367387773 rs1209544708	324	V>G		No	ClinGen gnomAD
CA4242873 rs777341123	324	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4242872 rs764677551	327	K>E		No	ClinGen ExAC gnomAD
CA4242871 rs147890079	327	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs980099937 CA157888166	328	R>C		No	ClinGen TOPMed gnomAD
rs775752607 CA4242870	328	R>H		No	ClinGen ExAC gnomAD
rs775752607 CA367387716	328	R>P		No	ClinGen ExAC gnomAD
rs758948480 CA367387706	329	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4242868 rs758948480	329	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4242869 rs541373271	329	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4242867 rs774566321	331	R>*		No	ClinGen ExAC gnomAD
rs774566321 CA367387691	331	R>G		No	ClinGen ExAC gnomAD
rs770985431 CA367387685	331	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770985431 CA4242866	331	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4242865 rs749358645	333	P>L		No	ClinGen ExAC TOPMed gnomAD
CA157888077 rs749358645	333	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1170455793 CA367387622	336	D>H		No	ClinGen TOPMed gnomAD
CA367387303 rs1204842305	338	A>T		No	ClinGen TOPMed
rs1585171660 CA367387209	340	D>E		No	ClinGen Ensembl
rs962888388 CA157887190	341	P>A		No	ClinGen TOPMed gnomAD
CA4242842 rs751170017	341	P>L		No	ClinGen ExAC TOPMed gnomAD
rs962888388 CA367387205	341	P>T		No	ClinGen TOPMed gnomAD
CA367387148 rs1222549467	342	E>A		No	ClinGen gnomAD
rs779614957 CA4242840	343	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4242839 rs758156997	344	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	346	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	346	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4242838 rs750048010	346	A>V		No	ClinGen ExAC gnomAD
CA4242837 rs376379442	347	R>Q		No	ClinGen ESP ExAC gnomAD
rs1372323488 CA367386964	347	R>W		No	ClinGen gnomAD
rs780925980 CA157887151	351	F>V		No	ClinGen Ensembl
CA367386809 rs753215069	352	H>N		No	ClinGen ExAC gnomAD
CA4242834 rs768058196	352	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4242835 rs753215069	352	H>Y		No	ClinGen ExAC gnomAD
CA4242833 rs756825151	353	H>P		No	ClinGen ExAC TOPMed gnomAD
rs756825151 CA4242832	353	H>R		No	ClinGen ExAC TOPMed gnomAD
CA367386743 rs1451164629	353	H>Y		No	ClinGen TOPMed
CA4242831 rs559670546	354	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544610642 CA4242830	355	S>C		No	ClinGen 1000Genomes ExAC
CA367386653 rs544610642	355	S>F		No	ClinGen 1000Genomes ExAC
CA157887071 rs1053501923	355	S>T		No	ClinGen TOPMed
CA367386648 rs1157204319	356	A>T		No	ClinGen gnomAD
rs982537580 CA157887061	356	A>V		No	ClinGen Ensembl
CA4242829 rs773360787	358	L>F		No	ClinGen ExAC gnomAD
CA4242828 rs769867474	359	N>S		No	ClinGen ExAC gnomAD
rs1323333514 CA367386457	363	P>L		No	ClinGen TOPMed
rs776488974 CA4242826	363	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776488974 CA4242827	363	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1288210619 CA367386427	364	P>R		No	ClinGen gnomAD
rs768614018 CA4242825	366	P>A		No	ClinGen ExAC TOPMed gnomAD
CA367386334 rs1465076024	366	P>L		No	ClinGen gnomAD
CA157887011 rs764949244	367	E>K		No	ClinGen TOPMed gnomAD
CA4242824 rs746883133	368	A>S		No	ClinGen ExAC gnomAD
CA367386249 rs746883133	368	A>T		No	ClinGen ExAC gnomAD
rs780018944 CA4242823	368	A>V		No	ClinGen ExAC gnomAD
rs1313104847 CA367386179	370	I>V		No	ClinGen TOPMed gnomAD
CA4242822 rs771935254	372	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4242821 rs144918436	372	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs778707480 CA4242820	373	A>G		No	ClinGen ExAC gnomAD
CA157886970 rs1029370382	373	A>T		No	ClinGen TOPMed gnomAD
CA367385938 rs1385667272	375	R>S		No	ClinGen TOPMed gnomAD
CA367385911 rs1318759753	377	A>P		No	ClinGen TOPMed
CA4242802 rs778760578	378	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4242801 rs770589512	378	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778760578 CA367385902	378	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1267685103 CA367385892	379	A>S		No	ClinGen TOPMed gnomAD
CA367385888 rs1267685103 COSM1089967	379	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	381	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157886690 rs755416871	381	N>S		No	ClinGen TOPMed gnomAD
CA157886689 rs1015361319	383	G>R		No	ClinGen TOPMed
CA4242798 rs186065767	384	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747514475 CA4242797	387	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1272579091 CA367385728	389	V>A		No	ClinGen gnomAD
rs1312832581 CA367385719	390	L>V		No	ClinGen gnomAD
CA367385699 rs1303761126	391	P>L		No	ClinGen TOPMed gnomAD
rs142907294 CA4242794	392	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758820110 CA4242795	392	T>S		No	ClinGen ExAC gnomAD
rs906150085 CA157886612 CA367385655	394	Q>H		No	ClinGen TOPMed gnomAD
rs116069234 CA4242792	394	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167834737 CA367385637	396	H>D		No	ClinGen gnomAD
CA4242790 rs764240210	399	K>R		No	ClinGen ExAC gnomAD
CA4242789 rs760667395	400	I>N		No	ClinGen ExAC gnomAD
CA4242788 rs775630668	402	E>D		No	ClinGen ExAC gnomAD
CA367385547 rs1177857180	402	E>K		No	ClinGen gnomAD
rs1182543159 CA367385516	405	S>C		No	ClinGen TOPMed gnomAD
CA367385518 rs1182543159	405	S>G		No	ClinGen TOPMed gnomAD
CA4242786 rs369327087	405	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs759448085 CA4242785	405	S>R		No	ClinGen ExAC gnomAD
CA157886534 rs893189299	407	E>K		No	ClinGen TOPMed
CA367384561 rs1473093610	408	N>I		No	ClinGen gnomAD
rs747695681 CA4242760	410	G>V		No	ClinGen ExAC TOPMed gnomAD
CA367384500 rs1210849503	411	P>R		No	ClinGen TOPMed gnomAD
CA4242758 rs768098186	411	P>S		No	ClinGen ExAC gnomAD
CA367384444 rs1585170758	414	L>P		No	ClinGen Ensembl
rs1210747380 CA367384433	415	P>S		No	ClinGen gnomAD
rs1029772292 CA157886053	416	Y>C		No	ClinGen TOPMed
CA157886052 rs1047781754	418	F>L		No	ClinGen Ensembl
rs139810379 CA4242755	419	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375143988 CA4242756	419	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs778101565 CA4242753	420	M>I		No	ClinGen ExAC gnomAD
CA4242752 rs371732045	421	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4242751 rs752922054	422	E>K		No	ClinGen ExAC TOPMed gnomAD
rs570150670 CA157886003	424	E>D		No	ClinGen TOPMed
CA4242749 rs755038623	424	E>K		No	ClinGen ExAC TOPMed gnomAD
rs755038623 CA157886010	424	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1392585288 CA367384180	425	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4242748 rs373752875	427	R>C		No	ClinGen ESP ExAC gnomAD
rs551772363 CA157885974	427	R>H		No	ClinGen TOPMed gnomAD
CA157885971 rs939189465	428	Y>C		No	ClinGen TOPMed gnomAD
rs1176013269 CA367383818	432	D>G		No	ClinGen gnomAD
CA157885790 rs111303494	434	M>I		No	ClinGen Ensembl
rs1357625967 CA367383770	434	M>T		No	ClinGen TOPMed
CA4242719 rs771564517	434	M>V		No	ClinGen ExAC gnomAD
rs763386471 CA4242718	435	R>C		No	ClinGen ExAC gnomAD
CA367383729 rs763386471	435	R>G		No	ClinGen ExAC gnomAD
CA157885759 rs955538329	435	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA367383724 rs763386471	435	R>S		No	ClinGen ExAC gnomAD
rs1260935351 CA367383664	437	V>A		No	ClinGen gnomAD
rs1202602101 CA367383634	438	T>S		No	ClinGen gnomAD
CA367383608 rs1312099106	439	K>N		No	ClinGen TOPMed
CA367383543 rs1329667439	442	I>F		No	ClinGen gnomAD
rs201628195 CA4242716	443	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4242715 rs201628195	443	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1228134063 CA367383507	443	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs777042312 CA4242714	445	A>V		No	ClinGen ExAC gnomAD
rs990651930 CA157885729	448	K>E		No	ClinGen TOPMed
TCGA novel	450	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367383257 rs768968674	451	K>R		No	ClinGen ExAC TOPMed gnomAD
rs768968674 CA4242713	451	K>T		No	ClinGen ExAC TOPMed gnomAD
CA4242712 rs747212072	453	E>K		No	ClinGen ExAC gnomAD
rs1336379395 CA367383122	456	H>R		No	ClinGen TOPMed gnomAD
rs975476886 CA157885695	458	E>K		No	ClinGen TOPMed gnomAD
rs1157295705 CA367383066	459	K>E		No	ClinGen gnomAD
CA4242709 rs780269701	459	K>N		No	ClinGen ExAC TOPMed gnomAD
CA367383038 rs1330421356	460	L>F		No	ClinGen gnomAD
CA367383025 rs1415225407	461	K>E		No	ClinGen gnomAD
rs1381837093 CA367382830	462	T>K		No	ClinGen gnomAD
rs1403642955 CA367382809	463	Y>C		No	ClinGen gnomAD
rs777218491 CA4242676	463	Y>N		No	ClinGen ExAC gnomAD
CA157884954 rs373675163	464	F>Y		No	ClinGen Ensembl
CA367382749 rs916610695 CA157884911	465	E>D		No	ClinGen TOPMed
CA367382758 rs1235925747	465	E>G		No	ClinGen TOPMed
rs1235925747 CA367382754	465	E>V		No	ClinGen TOPMed
rs1462087972 CA367382703	467	N>K		No	ClinGen gnomAD
CA4242675 rs764434931	467	N>S		No	ClinGen ExAC gnomAD
CA367382667 rs1167909325	469	R>G		No	ClinGen TOPMed gnomAD
CA367382658 rs1585169775	469	R>T		No	ClinGen Ensembl
CA367382664 rs1167909325	469	R>W		No	ClinGen TOPMed gnomAD
rs562228674 CA4242671	470	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs774441442 CA367382611	471	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774441442 CA4242670	471	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4242668 COSM1089966 rs188954038	475	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4242669 rs577399467	475	R>W		No	ClinGen ExAC TOPMed gnomAD
rs777680531 CA4242667	476	H>L		No	ClinGen ExAC gnomAD
TCGA novel	476	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	477	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249636188 CA367382391	479	P>L		No	ClinGen gnomAD
rs769532404 CA4242666	481	H>R		No	ClinGen ExAC gnomAD
rs1222126339 CA367382287	483	A>T		No	ClinGen gnomAD
CA367382147 rs1447023380	486	K>N		No	ClinGen gnomAD
CA367382174 rs1159241758	486	K>T		No	ClinGen TOPMed
rs145951256 CA4242661	487	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463289396 CA367382032	491	H>R		No	ClinGen TOPMed gnomAD
rs1388826463 CA367382025	492	V>I		No	ClinGen TOPMed
rs1321987846 CA367382002	493	P>A		No	ClinGen TOPMed
rs1585169690 CA367381993	493	P>L		No	ClinGen Ensembl
rs1461186999 CA367381969	494	D>E		No	ClinGen TOPMed gnomAD
CA157884795 rs749465286	497	V>I		No	ClinGen gnomAD
rs1338348075 CA367379948	498	P>L		No	ClinGen gnomAD
CA367379958 rs1402484902	498	P>S		No	ClinGen TOPMed
rs1467856277 CA367379932	499	P>S		No	ClinGen gnomAD
rs374315047 CA4242649	501	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781061115 CA4242647	502	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768277436 CA4242646	502	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4242645 rs534582979	503	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs779841101 CA4242644	503	G>V		No	ClinGen ExAC gnomAD
CA4242643 rs1127809	505	V>A		No	ClinGen ExAC gnomAD
rs1460989191 CA367379821	505	V>L		No	ClinGen gnomAD
CA367379823 rs1460989191	505	V>M		No	ClinGen gnomAD
rs1348983304 CA367379801	506	R>C		No	ClinGen gnomAD
rs141049623 CA4242640	506	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141049623 CA4242641	506	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4242639 rs753090345	507	P>L		No	ClinGen ExAC TOPMed gnomAD
rs199514187 CA4242638	508	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs899364789 CA157883740	508	H>Y		No	ClinGen gnomAD
rs570265074 CA157883733	509	K>R		No	ClinGen 1000Genomes gnomAD
rs371305217 CA4242635	511	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4242636 rs548754367	511	R>W		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	512	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4242634 rs763059235	512	K>R		No	ClinGen ExAC gnomAD
CA367379522 rs1157951806	513	K>E		No	ClinGen gnomAD
rs765181018 CA367379433	515	S>C		No	ClinGen ExAC TOPMed gnomAD
CA4242632 rs765181018	515	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4242631 rs761821419	516	S>P		No	ClinGen ExAC
CA157883710 rs769140577	517	S>F		No	ClinGen Ensembl
rs1242985290 CA367379382	518	C>S		No	ClinGen gnomAD
rs1261406359 CA367379286	521	A>G		No	ClinGen gnomAD
rs1445682269 CA367379295	521	A>T		No	ClinGen gnomAD
rs144330000 CA4242593	528	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150802269 CA4242592	528	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4242591 rs753895814	529	P>L		No	ClinGen ExAC gnomAD
rs1347300258 CA367377931	530	L>P		No	ClinGen gnomAD
rs764223392 CA4242590	531	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4242588 rs373225995	531	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373225995 CA4242589	531	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1001317809 CA157883285	532	S>N		No	ClinGen TOPMed gnomAD
CA367377907 rs1001317809	532	S>T		No	ClinGen TOPMed gnomAD
rs904185881 CA157883282	533	F>I		No	ClinGen TOPMed
rs371652900 CA4242587	536	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289165916 CA367377826	537	G>A		No	ClinGen TOPMed
rs1180889513 CA367377818	538	K>E		No	ClinGen gnomAD
TCGA novel	538	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486099793 CA367377801	539	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	539	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487888877 CA367377760	541	R>T		No	ClinGen gnomAD
rs1212487051 CA367377733	543	T>K		No	ClinGen gnomAD
CA367377726 rs1292395101	544	A>T		No	ClinGen gnomAD
CA367377715 rs1248351565	544	A>V		No	ClinGen gnomAD
rs199660993 CA4242586	545	K>Q		No	ClinGen 1000Genomes ExAC

No associated diseases with Q9NY93

4 regional properties for Q9NY93

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	230 - 424	IPR001650
domain	DEAD/DEAH box helicase domain	31 - 206	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	26 - 234	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	7 - 35	IPR014014

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

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

5 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.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.
RNA stem-loop binding	Binding to a stem-loop in an RNA molecule. An RNA stem-loop is a secondary RNA structure consisting of a double-stranded RNA (dsRNA) stem and a terminal loop.

4 GO annotations of biological process

Name	Definition
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
modulation by host of viral RNA genome replication	A process in which a host organism modulates the frequency, rate or extent of viral RNA genome replication.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q06218	DBP9	ATP-dependent RNA helicase DBP9	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q3SZ40	DDX56	Probable ATP-dependent RNA helicase DDX56	Bos taurus (Bovine)	PR
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
Q8TDD1	DDX54	ATP-dependent RNA helicase DDX54	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
Q9NUL7	DDX28	Probable ATP-dependent RNA helicase DDX28	Homo sapiens (Human)	PR
Q7L014	DDX46	Probable ATP-dependent RNA helicase DDX46	Homo sapiens (Human)	PR

10	20	30	40	50	60
MEDSEALGFE	HMGLDPRLLQ	AVTDLGWSRP	TLIQEKAIPL	ALEGKDLLAR	ARTGSGKTAA
70	80	90	100	110	120
YAIPMLQLLL	HRKATGPVVE	QAVRGLVLVP	TKELARQAQS	MIQQLATYCA	RDVRVANVSA
130	140	150	160	170	180
AEDSVSQRAV	LMEKPDVVVG	TPSRILSHLQ	QDSLKLRDSL	ELLVVDEADL	LFSFGFEEEL
190	200	210	220	230	240
KSLLCHLPRI	YQAFLMSATF	NEDVQALKEL	ILHNPVTLKL	QESQLPGPDQ	LQQFQVVCET
250	260	270	280	290	300
EEDKFLLLYA	LLKLSLIRGK	SLLFVNTLER	SYRLRLFLEQ	FSIPTCVLNG	ELPLRSRCHI
310	320	330	340	350	360
ISQFNQGFYD	CVIATDAEVL	GAPVKGKRRG	RGPKGDKASD	PEAGVARGID	FHHVSAVLNF
370	380	390	400	410	420
DLPPTPEAYI	HRAGRTARAN	NPGIVLTFVL	PTEQFHLGKI	EELLSGENRG	PILLPYQFRM
430	440	450	460	470	480
EEIEGFRYRC	RDAMRSVTKQ	AIREARLKEI	KEELLHSEKL	KTYFEDNPRD	LQLLRHDLPL
490	500	510	520	530	540
HPAVVKPHLG	HVPDYLVPPA	LRGLVRPHKK	RKKLSSSCRK	AKRAKSQNPL	RSFKHKGKKF

RPTAKPS