AiPD: Autoinhibited Protein Database

Q9UQ16

Gene name	DNM3 (KIAA0820)
Protein name	Dynamin-3
Names	Dynamin, testicular, T-dynamin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26052
EC number	3.6.5.5: Acting on GTP; 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)

724-869 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

724-869 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

3 structures for Q9UQ16

Entry ID	Method	Resolution	Chain	Position	Source
3L43	X-ray	227 A	A/B/C/D	6-306	PDB
5A3F	X-ray	370 A	A/B/C/D	1-764	PDB
AF-Q9UQ16-F1	Predicted				AlphaFoldDB

548 variants for Q9UQ16

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1245064 rs754725721	4	R>L		No	ClinGen ExAC gnomAD
CA343797947 rs754725721	4	R>Q		No	ClinGen ExAC gnomAD
CA1245063 rs748904460	4	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1454745272 CA343797987	6	M>I		No	ClinGen gnomAD
CA343798005 rs1193126384	7	E>G		No	ClinGen gnomAD
CA343798023 rs1313104093	8	E>G		No	ClinGen gnomAD
CA1245065 rs778559191	9	L>M		No	ClinGen ExAC TOPMed gnomAD
CA1245067 rs771766621	11	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771766621 CA343798064	11	P>T		No	ClinGen ExAC TOPMed gnomAD
rs369144398 CA1245069	15	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1245070 rs771104962	15	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776921771 CA1245071	16	L>P		No	ClinGen ExAC gnomAD
TCGA novel	17	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1020763141 CA32919736	19	A>V		No	ClinGen TOPMed gnomAD
rs765444702 CA1245073	21	S>L		No	ClinGen ExAC TOPMed gnomAD
CA343798138 rs1180917841	23	L>V		No	ClinGen gnomAD
rs752034781 CA1245077	28	L>P		No	ClinGen ExAC gnomAD
CA343798240 rs1448980097	39	G>C		No	ClinGen gnomAD
TCGA novel	39	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301156297 CA343798249	40	Q>R		No	ClinGen gnomAD
CA343798259 rs1370033816	41	S>R		No	ClinGen gnomAD
rs754458688 CA1245081	42	A>S		No	ClinGen ExAC gnomAD
rs1558150274 CA343798271	43	G>D		No	ClinGen Ensembl
rs1302274033 CA343798278	44	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343798295 rs1202536636	46	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1458262057 CA343798310	49	E>*		No	ClinGen gnomAD
TCGA novel	53	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343798343 rs1201114652	53	G>D		No	ClinGen gnomAD
CA343800390 rs1291452147	57	L>F		No	ClinGen TOPMed gnomAD
rs1354886066 CA343800396	58	P>T		No	ClinGen TOPMed gnomAD
CA1245107 rs745812518	59	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1292606567 CA343800403	59	R>Q		No	ClinGen TOPMed gnomAD
rs201627857 CA1245109	61	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA343800423 rs1558268667	62	G>S		No	ClinGen Ensembl
rs1489029012 CA343800435	63	I>V		No	ClinGen gnomAD
rs1185183732 CA343800449	64	V>L		No	ClinGen gnomAD
rs1461046046 CA343800472	66	R>K		No	ClinGen TOPMed
rs768922405 CA1245112	67	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1183572066 CA343800484	67	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1158951855 CA343800518	71	L>M		No	ClinGen gnomAD
CA343800539 rs1421815399	72	Q>H		No	ClinGen TOPMed gnomAD
CA32928101 rs895773426	75	T>S		No	ClinGen Ensembl
CA343800577 rs762099211	76	S>F		No	ClinGen ExAC gnomAD
CA1245114 rs762099211	76	S>Y		No	ClinGen ExAC gnomAD
rs966446156 CA32935009	81	A>S		No	ClinGen TOPMed
rs966446156 CA343802177	81	A>T		No	ClinGen TOPMed
CA343802182 rs1332628950	82	E>K		No	ClinGen gnomAD
rs748391175 CA1245132	83	F>C		No	ClinGen ExAC gnomAD
TCGA novel	85	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1245134 rs773516911	86	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1317526569 CA343802227	88	G>R		No	ClinGen gnomAD
CA343802236 rs1345200287	89	K>R		No	ClinGen TOPMed gnomAD
CA343802243 rs1270339595	90	K>R		No	ClinGen TOPMed gnomAD
rs938931814 CA32935010	92	T>I		No	ClinGen TOPMed
CA1245136 rs771286083	93	D>N		No	ClinGen ExAC gnomAD
TCGA novel CA32935011 rs865780128	94	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	94	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201168352 CA1245137	95	D>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1466985642 CA343802309	97	V>I		No	ClinGen TOPMed gnomAD
rs527384140 CA1245138	98	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1377292072 CA343802332	98	R>H		No	ClinGen gnomAD
CA1245139 rs200882657	101	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1245144 rs755949799	106	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1245143 rs372756678	106	D>G		No	ClinGen ESP ExAC gnomAD
CA343802482 rs1194672708	106	D>H		No	ClinGen TOPMed
rs1194672708 CA343802485	106	D>Y		No	ClinGen TOPMed
CA1245145 rs766159947	107	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA343802507 rs1333902166	107	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1245147 rs755001015	108	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1245148 rs755001015	108	V>M		No	ClinGen ExAC TOPMed gnomAD
rs748364887 CA1245149	110	G>A		No	ClinGen ExAC gnomAD
rs1316810940 CA343802570	111	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1245150 rs201273492	111	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	112	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343802630 rs538785687	114	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA32935014 rs538785687	114	G>D		No	ClinGen 1000Genomes gnomAD
CA343802632 rs538785687	114	G>V		No	ClinGen 1000Genomes gnomAD
CA1245151 rs778071141	115	I>V		No	ClinGen ExAC gnomAD
CA1245153 rs771360366	117	S>F		No	ClinGen ExAC gnomAD
rs1201333805 CA343802726	120	I>T		No	ClinGen gnomAD
CA1245154 rs541085879	120	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1477551552 CA343802755	122	L>I		No	ClinGen gnomAD
CA343802776 rs1171386565	123	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA32935015 rs992521621	123	R>Q		No	ClinGen gnomAD
CA1245157 rs774067894	125	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA343802813 rs1315811847	127	P>L		No	ClinGen gnomAD
CA1245159 rs767017496	127	P>T		No	ClinGen ExAC gnomAD
CA1245161 rs371617456	129	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA343802850 rs1484845229	131	N>T		No	ClinGen TOPMed
CA343802870 rs1288398430	134	L>P		No	ClinGen gnomAD
CA343802876 rs1279870665	135	I>T		No	ClinGen TOPMed
rs371615077 CA1245175	141	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA343802917 rs1257486426	142	K>E		No	ClinGen gnomAD
CA1245176 rs771642076	145	V>A		No	ClinGen ExAC TOPMed gnomAD
rs915862931 CA32935135	147	D>N		No	ClinGen Ensembl
CA1245177 rs561525848	152	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA343802990 rs1380150846	153	E>K		No	ClinGen Ensembl
rs950979989 CA343803013	156	I>F		No	ClinGen TOPMed gnomAD
rs950979989 CA32935136	156	I>V		No	ClinGen TOPMed gnomAD
CA1245180 rs776469120	157	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	158	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	159	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	159	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	159	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1245181 rs759341411	159	M>T		No	ClinGen ExAC TOPMed gnomAD
rs375401925 CA1245183	161	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA32935137 rs924330099	161	M>T		No	ClinGen gnomAD
CA343803082 rs1377424968	165	T>M		No	ClinGen TOPMed gnomAD
CA343803125 rs1241985956	171	I>M		No	ClinGen gnomAD
rs369721002 CA1245184	172	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA343803137 rs1310594209	173	A>V		No	ClinGen gnomAD
rs1370873553 CA343803139	174	V>L		No	ClinGen TOPMed
rs1213566950 CA343803145	175	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1213566950 CA343803144	175	T>P		No	ClinGen gnomAD
rs1256725670 CA343803151	176	P>A		No	ClinGen gnomAD
rs78420203 CA32935139	177	A>S		No	ClinGen TOPMed
CA343803194 rs1484275687	182	A>G		No	ClinGen gnomAD
CA32935140 rs751704138	185	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1245187 rs373493204	186	A>V	Variant assessed as Somatic; 4.651e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1176323308 CA343803237	189	L>P		No	ClinGen gnomAD
rs370507711 CA1245191	190	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370507711 CA1245190	190	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1245192 rs749833417	190	A>V		No	ClinGen ExAC gnomAD
CA527325761 rs1432291067	191	K>S		No	ClinGen gnomAD
rs1221043154 CA343800762	201	I>V		No	ClinGen gnomAD
rs868246639 CA32939636	202	G>E		No	ClinGen Ensembl
CA1245206 rs767779058	205	T>N		No	ClinGen ExAC gnomAD
rs1328018505 CA343800797	206	K>N		No	ClinGen TOPMed
rs780614209 CA1245209	210	M>K		No	ClinGen ExAC gnomAD
rs754268755 CA1245210	211	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1245211 rs755567627	214	T>M		No	ClinGen ExAC TOPMed gnomAD
rs768993977 CA32939638	215	D>Y		No	ClinGen Ensembl
CA32939640 rs1000169113	218	D>G		No	ClinGen gnomAD
rs904637588 CA32939639	218	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1367703596 CA343800923	225	L>F		No	ClinGen gnomAD
rs1029019764 CA32939641	226	P>T		No	ClinGen Ensembl
rs368300860 CA1245215	228	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1245216 rs371154105	228	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA343800938 rs371154105	228	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1042295689 CA32939702	232	V>A		No	ClinGen TOPMed
rs779582373 CA343800973	232	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1245244 rs779582373	232	V>M		No	ClinGen ExAC TOPMed gnomAD
CA343800994 rs1418476260	235	V>G		No	ClinGen Ensembl
rs1415095492 CA343801012	238	S>C		No	ClinGen gnomAD
CA1245245 rs749042624	239	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1446545746 CA343801028	240	K>R		No	ClinGen gnomAD
CA1245247 rs188317443	242	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772245944 CA1245249	243	D>E		No	ClinGen ExAC gnomAD
rs748083260 CA1245248	243	D>G		No	ClinGen ExAC gnomAD
rs1256117280 CA343801081	247	D>E		No	ClinGen gnomAD
CA32939704 rs760629252	250	A>S		No	ClinGen TOPMed gnomAD
CA343801098 rs760629252	250	A>T		No	ClinGen TOPMed gnomAD
rs1199171249 CA343801100	250	A>V		No	ClinGen gnomAD
CA1245251 rs760850940	252	M>I		No	ClinGen ExAC gnomAD
CA1245253 rs766641842	253	L>M		No	ClinGen ExAC gnomAD
rs759897946 CA1245254	254	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1572179185 CA343801144	257	K>T		No	ClinGen Ensembl
CA343801150 rs1172464949	258	F>L		No	ClinGen gnomAD
CA343801167 rs1205967948	260	L>F		No	ClinGen TOPMed
rs767005768 CA1245258	263	P>L		No	ClinGen ExAC TOPMed gnomAD
CA343801187 rs1231860105	263	P>T		No	ClinGen TOPMed
rs371660188 CA1245261	264	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403900224 CA343801193	264	A>V		No	ClinGen gnomAD
CA343801196 rs1375711856	265	Y>H		No	ClinGen TOPMed
CA343801203 rs1322483744	266	R>G		No	ClinGen gnomAD
rs1331287985 CA343801209	266	R>S		No	ClinGen gnomAD
rs753452327 CA1245262	267	H>R		No	ClinGen ExAC TOPMed gnomAD
CA343801217 rs754778626	268	I>F		No	ClinGen ExAC TOPMed gnomAD
rs754778626 CA1245263	268	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1245265 rs748093652	269	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1245266 rs772194466	271	R>*		No	ClinGen ExAC gnomAD
CA343801236 rs772194466	271	R>G		No	ClinGen ExAC gnomAD
rs1354009187 CA343801237	271	R>Q		No	ClinGen gnomAD
rs566092190 CA32939705	274	T>I		No	ClinGen 1000Genomes TOPMed
CA343801279 rs1289466161	278	Q>K		No	ClinGen gnomAD
CA343801294 rs1452350696	279	K>N		No	ClinGen gnomAD
rs1034049573 CA32939706	280	V>A		No	ClinGen Ensembl
rs1558456667 CA343801306	282	N>H		No	ClinGen Ensembl
rs1261171523 CA343801316	283	Q>*		No	ClinGen gnomAD
CA343801357 rs1419809853	287	N>S		No	ClinGen gnomAD
rs892136603 CA32940179	289	I>V		No	ClinGen Ensembl
RCV000658534 rs781193654 CA1245287	290	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1245286 rs548635608	290	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1043971124 CA32940180	291	D>V		No	ClinGen Ensembl
rs1334733855 CA343801390	292	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1334733855 CA343801389	292	T>S		No	ClinGen TOPMed gnomAD
rs1487223263 CA343801394	293	L>P		No	ClinGen TOPMed gnomAD
rs775698504 CA1245290	298	N>H		No	ClinGen ExAC gnomAD
CA1245291 rs763267475	301	Q>E		No	ClinGen ExAC gnomAD
rs1200444857 CA343801474	305	L>F		No	ClinGen gnomAD
rs762348915 CA1245294	307	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1237207072 CA343801497	308	E>D		No	ClinGen gnomAD
rs759286939 CA32940182	308	E>K		No	ClinGen Ensembl
rs199716360 CA1245296	309	H>L		No	ClinGen 1000Genomes ExAC
rs765909922 CA1245295	309	H>Y		No	ClinGen ExAC gnomAD
CA32940183 rs993199587	311	V>L		No	ClinGen TOPMed
CA343801517 rs1206888319	312	E>K		No	ClinGen TOPMed
CA32940184 rs764755733	313	A>D		No	ClinGen ExAC TOPMed gnomAD
rs764755733 CA1245298	313	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1245297 rs757382462	313	A>T		No	ClinGen ExAC TOPMed gnomAD
CA343801532 rs1225134461	314	Y>C		No	ClinGen TOPMed
rs758244650 CA343801539	315	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758244650 CA1245300	315	K>T		No	ClinGen ExAC TOPMed gnomAD
CA1245301 rs764019043	316	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751536300 CA1245302	318	K>I		No	ClinGen ExAC gnomAD
rs552393073 CA1245303	319	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343801571 rs1392253238	320	E>Q		No	ClinGen gnomAD
CA343801632 rs1558465599	328	A>V		No	ClinGen Ensembl
rs1410684269 CA343801636	329	L>S		No	ClinGen TOPMed
CA1245308 rs369046433	331	Q>P		No	ClinGen ESP ExAC gnomAD
rs767322184 CA1245321	332	M>I		No	ClinGen ExAC gnomAD
CA1245323 rs756128732	335	Q>R		No	ClinGen ExAC gnomAD
CA343801745 rs1558471682	343	R>G		No	ClinGen Ensembl
rs755252552 CA1245326	363	N>S		No	ClinGen ExAC gnomAD
rs1430116420 CA343801887	364	R>C	Variant assessed as Somatic; 4.664e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343801889 rs1162372963	364	R>H		No	ClinGen TOPMed gnomAD
rs779122643 CA1245327	365	I>V		No	ClinGen ExAC TOPMed gnomAD
rs748395660 CA343801925	369	R>H	Variant assessed as Somatic; 4.683e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748395660 CA1245328	369	R>L		No	ClinGen ExAC gnomAD
rs772508456 CA1245329	370	F>I		No	ClinGen ExAC gnomAD
rs1284547239 CA343801953	373	E>V		No	ClinGen TOPMed
CA343801996 rs1572229914	377	M>I		No	ClinGen Ensembl
CA343801991 rs1158542479	377	M>K		No	ClinGen gnomAD
TCGA novel	381	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	383	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753011365 CA1245347	385	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1245349 rs778265323	385	R>Q		No	ClinGen ExAC gnomAD
CA1245350 rs747456097	387	E>G		No	ClinGen ExAC gnomAD
CA343802071 rs1238946654	388	I>V		No	ClinGen gnomAD
TCGA novel	393	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	394	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374106553 CA1245352	395	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317100174 CA343802131	396	H>R		No	ClinGen TOPMed
rs367760498 CA1245353	398	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	399	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	399	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343802315 rs1398632207	402	L>S		No	ClinGen gnomAD
TCGA novel	409	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343802405 rs1409688334	410	E>V		No	ClinGen gnomAD
rs760422946 CA1245378	411	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343802424 rs1433699541	412	I>L		No	ClinGen gnomAD
rs1282138603 CA343802427	412	I>T		No	ClinGen gnomAD
rs1324637897 CA343802433	413	V>L		No	ClinGen TOPMed
CA343802458 rs1357716695	415	K>R		No	ClinGen gnomAD
CA343802481 rs1345591627	417	I>T		No	ClinGen gnomAD
rs1225341649 CA343802506	420	L>V		No	ClinGen gnomAD
rs759535457 CA1245381	423	P>L		No	ClinGen ExAC gnomAD
CA1245382 rs765217757	424	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766032731 CA32941281	427	S>C		No	ClinGen TOPMed gnomAD
CA343802583 rs1268352485	427	S>T		No	ClinGen gnomAD
rs762944095 CA1245384	430	L>M		No	ClinGen ExAC gnomAD
CA343802629 rs1558482925	432	I>L		No	ClinGen Ensembl
rs764332595 CA1245385	432	I>T		No	ClinGen ExAC gnomAD
CA343802685 rs1475307590	437	N>D		No	ClinGen gnomAD
CA1245388 rs544772471	441	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA343802744 rs1572250625	442	C>Y		No	ClinGen Ensembl
rs1376574189 CA343802766	444	K>T		No	ClinGen gnomAD
TCGA novel	446	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	446	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200518266 CA32943449	447	A>S		No	ClinGen gnomAD
CA32943448 rs200518266	447	A>T		No	ClinGen gnomAD
rs777331641 CA1245411	448	N>D		No	ClinGen ExAC gnomAD
CA343803332 rs1300793137	450	P>L		No	ClinGen TOPMed
rs1362768272 CA343803351	453	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1160229439 CA343803354	454	E>K		No	ClinGen TOPMed gnomAD
rs375651951 CA1245414	456	T>M		No	ClinGen ESP ExAC gnomAD
CA1245417 rs775472297	458	R>G		No	ClinGen ExAC gnomAD
rs1558517426 CA343803393	459	I>T		No	ClinGen Ensembl
rs749227741 CA1245418	460	V>I		No	ClinGen ExAC gnomAD
CA343803401 rs1305067694	461	A>T		No	ClinGen gnomAD
rs1408728199 CA343803409	462	N>D		No	ClinGen gnomAD
rs774632864 CA1245420	464	I>V		No	ClinGen ExAC gnomAD
CA32943450 rs774817889	465	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1245421 rs774817889	465	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772354266 CA1245422	465	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1245423 rs773602277	467	R>*		No	ClinGen ExAC gnomAD
CA1245424 rs761052651	467	R>Q		No	ClinGen ExAC gnomAD
rs1249298818 CA343803453	469	G>E		No	ClinGen gnomAD
CA1245425 rs766703958	469	G>R		No	ClinGen ExAC gnomAD
rs754364440 CA1245426	470	K>T		No	ClinGen ExAC gnomAD
CA32943451 rs867389805	471	T>K		No	ClinGen Ensembl
rs1375403438 CA343803488	474	Q>R		No	ClinGen gnomAD
CA32944981 rs924454995	475	V>I		No	ClinGen TOPMed gnomAD
CA343803513 rs1373401291	476	L>S		No	ClinGen gnomAD
CA1245439 rs772300947	478	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	480	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA32944982 rs1054206704	486	I>V		No	ClinGen Ensembl
rs771313162 CA1245442	487	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343803595 rs1279800202	488	T>S		No	ClinGen TOPMed gnomAD
CA1245445 rs765689989	490	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA1245444 rs759948810	490	H>Y		No	ClinGen ExAC gnomAD
rs1294871073 CA343803616	491	E>A		No	ClinGen TOPMed
rs753222273 CA1245446	492	D>Y		No	ClinGen ExAC gnomAD
rs1375450679 CA343803638	494	I>T		No	ClinGen TOPMed gnomAD
CA1245448 rs767050830	497	A>T		No	ClinGen ExAC gnomAD
rs867025051 CA32946153	499	A>S		No	ClinGen Ensembl
CA1245464 rs775941588	500	Q>H		No	ClinGen ExAC gnomAD
rs372686246 CA1245465	503	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1245466 rs767005713	503	S>R		No	ClinGen ExAC gnomAD
CA343803728 rs1206844129	505	Q>R		No	ClinGen gnomAD
rs1314601760 CA343803739	507	H>D		No	ClinGen gnomAD
rs1457423711 CA343803741	507	H>P		No	ClinGen TOPMed
rs770136737 CA1245481	520	P>L		No	ClinGen ExAC TOPMed gnomAD
CA32946231 rs889425913	521	P>T		No	ClinGen TOPMed
CA32946232 rs749669187	523	R>K		No	ClinGen ExAC gnomAD
CA1245483 rs749669187	523	R>M		No	ClinGen ExAC gnomAD
CA343803865 rs1572478636	524	Q>R		No	ClinGen Ensembl
rs746073074 CA1245497	528	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756274426 CA343803907	528	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756274426 CA1245498	528	R>L		No	ClinGen ExAC TOPMed gnomAD
CA343803926 rs1402478115	531	W>*		No	ClinGen gnomAD
rs369686906 CA1245500	532	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA343803942 rs1404087133	533	T>I		No	ClinGen TOPMed
rs373398423 CA32950183	537	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs373398423 CA1245501	537	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338496017 CA343803971	538	G>S		No	ClinGen TOPMed gnomAD
rs1214222450 CA343803977	539	I>L		No	ClinGen gnomAD
rs1558617649 CA343803990	540	M>I		No	ClinGen Ensembl
rs748730002 CA1245503	540	M>V		No	ClinGen ExAC gnomAD
TCGA novel	541	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344450041 CA343804000	542	G>S		No	ClinGen gnomAD
TCGA novel	543	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs570667502 CA1245505	543	G>S	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1201636845 CA343804016	544	S>L		No	ClinGen gnomAD
rs1201636845 CA343804015	544	S>W		No	ClinGen gnomAD
rs775303605 CA1245508	550	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1558617855 CA343804084	554	E>V		No	ClinGen Ensembl
CA343804093 rs1162422341	555	S>R		No	ClinGen gnomAD
CA343804114 rs1365655755	558	W>*		No	ClinGen gnomAD
CA32950184 rs562518281	559	Y>F		No	ClinGen TOPMed gnomAD
CA343804118 rs1407070265	559	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1211082046 CA343804562	564	E>K		No	ClinGen gnomAD
rs752381838 CA1245589	572	P>S		No	ClinGen ExAC TOPMed gnomAD
CA343804625 rs752381838	572	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	573	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1245590 rs757989060	577	K>Q		No	ClinGen ExAC gnomAD
rs777409762 CA1245591	578	V>F		No	ClinGen ExAC TOPMed gnomAD
CA343804673 rs1473847151	579	R>P		No	ClinGen TOPMed gnomAD
CA343804672 rs1473847151	579	R>Q		No	ClinGen TOPMed gnomAD
CA343804671 rs1253104482	579	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343804679 rs1331570530	580	D>G		No	ClinGen TOPMed
TCGA novel	584	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343804727 rs1414743959	586	M>I		No	ClinGen gnomAD
CA343804756 rs1177710084	590	H>R		No	ClinGen gnomAD
rs1184961269 CA343804752	590	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343804766 rs1352260522	591	I>M		No	ClinGen gnomAD
rs199752615 CA32963313	597	T>A		No	ClinGen 1000Genomes
CA343804806 rs868104229	597	T>I		No	ClinGen gnomAD
CA32963314 rs868104229	597	T>K		No	ClinGen gnomAD
CA343804206 rs1241013851	601	N>T		No	ClinGen gnomAD
rs975483625 CA32969452	604	K>R		No	ClinGen TOPMed
rs1298502289 CA343804248	607	R>C		No	ClinGen TOPMed gnomAD
CA32969453 rs921291704	607	R>H		No	ClinGen gnomAD
CA343804266 rs1169869120	609	L>P		No	ClinGen TOPMed
rs752137023 CA1245612	611	L>Q		No	ClinGen ExAC
CA343804276 rs1051506733	611	L>V		No	ClinGen gnomAD
CA1245614 rs757937517	612	A>E		No	ClinGen ExAC gnomAD
rs1391495150 CA343804287	613	C>Y		No	ClinGen gnomAD
rs560306268 CA1245618	624	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA343804369 rs560306268	624	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA1245620 rs769549022	628	R>*		No	ClinGen ExAC gnomAD
TCGA novel	628	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA32969456 rs940565036	629	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs780068879 CA1245621	632	Y>H		No	ClinGen ExAC gnomAD
CA343804449 rs1232911054	637	V>I		No	ClinGen TOPMed
CA1245699 rs762888057	641	D>G		No	ClinGen ExAC gnomAD
CA1245700 rs763939682	643	N>S		No	ClinGen ExAC TOPMed gnomAD
CA32696927 rs988981371	644	G>E		No	ClinGen TOPMed gnomAD
rs1358105434 CA343729903	645	Q>H		No	ClinGen gnomAD
CA1245701 rs751617803	646	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343729919 rs1458282252	648	N>D		No	ClinGen TOPMed
CA343729930 rs1314158674	649	F>S		No	ClinGen gnomAD
CA343729945 rs1409125198	651	M>T		No	ClinGen gnomAD
rs1348606214 CA343729941	651	M>V		No	ClinGen gnomAD
CA343730002 rs1175598338	659	V>L		No	ClinGen TOPMed
CA343730009 rs1225690354	660	E>K		No	ClinGen gnomAD
rs750682002 CA1245704	661	T>I		No	ClinGen ExAC gnomAD
CA1245705 rs756468578	663	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1245706 rs573884254	663	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749628094 CA1245707	666	V>I		No	ClinGen ExAC TOPMed gnomAD
CA343730046 rs749628094	666	V>L		No	ClinGen ExAC TOPMed gnomAD
rs374692919 CA1245708	670	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA343730132 rs1424085908	678	R>*		No	ClinGen gnomAD
rs576583368 CA1245709	678	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	679	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	679	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1245711 rs770616861	685	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1245710 rs746472794	685	I>V		No	ClinGen ExAC gnomAD
rs1031391154 CA32696993	686	M>I		No	ClinGen TOPMed
CA343730184 rs1573664870	686	M>T		No	ClinGen Ensembl
CA343730193 rs1429048910	687	H>R		No	ClinGen TOPMed gnomAD
CA343730208 rs1356095080 CA343730209	689	M>I		No	ClinGen TOPMed gnomAD
rs1308490856 CA343730206	689	M>T		No	ClinGen gnomAD
rs776394487 CA1245712	690	I>F		No	ClinGen ExAC gnomAD
CA343730259 rs1303521374	694	K>N		No	ClinGen TOPMed
CA343730262 rs1387361779	695	D>H		No	ClinGen TOPMed
CA343730263 rs1387361779	695	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1349377437 CA343730285	698	N>D		No	ClinGen gnomAD
CA343730301 rs1270810327	700	E>G		No	ClinGen gnomAD
rs779456750 CA1245727	700	E>K		No	ClinGen ExAC gnomAD
TCGA novel	701	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1245729 rs769593168	704	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA1245731 rs745372696	705	L>S		No	ClinGen ExAC gnomAD
rs1215213173 CA343730339	706	Y>C		No	ClinGen gnomAD
rs1215213173 CA343730338	706	Y>S		No	ClinGen gnomAD
rs769443821 CA1245732	707	S>F		No	ClinGen ExAC gnomAD
TCGA novel	711	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1245733 rs775026845	713	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1245736 CA343730401 rs768375311	715	M>I		No	ClinGen ExAC gnomAD
CA1245735 rs749086654	715	M>R		No	ClinGen ExAC gnomAD
rs774265759 CA1245737	716	E>Q		No	ClinGen ExAC gnomAD
rs267598167 CA32700460	717	E>K		No	ClinGen Ensembl
rs879203664 CA32700463	719	A>P		No	ClinGen Ensembl
rs1558074532 CA343730441	721	Q>R		No	ClinGen Ensembl
CA32700466 rs972528951	723	Q>E		No	ClinGen Ensembl
CA1245738 rs761798524	724	R>C		No	ClinGen ExAC gnomAD
rs199616510 CA1245739	724	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1245742 rs766579591	725	R>Q		No	ClinGen ExAC gnomAD
CA1245741 rs765996640	725	R>W		No	ClinGen ExAC gnomAD
rs1319127035 CA343730469	726	D>G		No	ClinGen gnomAD
CA343730482 rs1433219905	728	M>V		No	ClinGen TOPMed
rs1328221075 CA343730491	729	L>F		No	ClinGen gnomAD
rs755341925 CA1245744	730	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765590825 CA1245745	730	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1245746 rs753122731	731	M>I		No	ClinGen ExAC gnomAD
CA1245747 rs758905235	732	Y>H		No	ClinGen ExAC gnomAD
rs1266594362 CA343730531	735	L>R		No	ClinGen gnomAD
CA1245748 rs778451911	737	E>A		No	ClinGen ExAC gnomAD
CA1245750 rs755628921	740	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	742	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779725199 CA1245751	742	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1440157414 CA343730580	743	G>E		No	ClinGen gnomAD
rs748958020 CA1245752	745	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1238028597 CA343730608	747	T>I		No	ClinGen gnomAD
CA343730610 rs1238028597	747	T>K		No	ClinGen gnomAD
rs1573695007 CA343730605	747	T>P		No	ClinGen Ensembl
CA343730613 rs1179828838	748	A>S		No	ClinGen gnomAD
CA1245757 rs764488489	750	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1245756 rs761306122	750	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761306122 CA1245755	750	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1558074864 CA343730637	752	T>S		No	ClinGen Ensembl
rs777632501 CA1245758	753	P>L	Variant assessed as Somatic; 9.286e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759616835 CA1245761	755	P>R		No	ClinGen ExAC gnomAD
rs776910137 CA1245760	755	P>T		No	ClinGen ExAC gnomAD
CA343730657 rs1350184812	756	P>L		No	ClinGen gnomAD
CA1245763 rs753067456	756	P>S		No	ClinGen ExAC TOPMed gnomAD
rs764675383 CA1245765	761	S>F		No	ClinGen ExAC gnomAD
rs1342407685 CA343730698	762	W>C		No	ClinGen gnomAD
rs150055204 CA32700586	762	W>R		No	ClinGen 1000Genomes
rs1199426134 CA343730705	763	I>M		No	ClinGen gnomAD
rs1174198585 CA343730718	765	H>R		No	ClinGen TOPMed
TCGA novel	765	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343730727 rs1280411026	766	S>F		No	ClinGen gnomAD
CA1245766 rs752046031	767	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1245767 rs752046031	767	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1245768 rs779486284	767	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1010003536 CA32700614	768	R>K		No	ClinGen TOPMed gnomAD
CA1245786 rs146824554	770	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343730900 rs1573701055	770	P>T		No	ClinGen Ensembl
CA343730929 rs1160941142	772	P>S		No	ClinGen gnomAD
CA343730982 rs1361791249	776	T>A		No	ClinGen TOPMed gnomAD
rs1326122034 CA343730989	776	T>I		No	ClinGen gnomAD
CA1245788 rs753247830	777	Q>P		No	ClinGen ExAC gnomAD
rs796209396 CA32701433	778	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1296190272 CA343731050	781	T>I		No	ClinGen gnomAD
rs1199914317 CA343731054	782	L>V		No	ClinGen TOPMed
rs1490120038 CA343731066	783	S>N		No	ClinGen TOPMed
rs1308077063 CA343731084	784	A>V		No	ClinGen TOPMed gnomAD
rs553604985 CA1245791	785	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201368851 CA1245790	785	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253922223 CA343731111	787	A>E		No	ClinGen gnomAD
CA32701456 rs181035771	787	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs181035771 CA1245795	787	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1469965098 CA343731137	790	T>A		No	ClinGen gnomAD
CA343731148 rs1573701337	791	S>P		No	ClinGen Ensembl
CA1245797 rs745910684	792	G>S		No	ClinGen ExAC TOPMed gnomAD
rs775851148 CA1245799	793	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1367115801 CA343731193	795	P>A		No	ClinGen gnomAD
CA1245800 rs749578623	797	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA32701479 rs376982751	798	A>T		No	ClinGen ESP TOPMed
rs769011734 CA343731237	799	I>L		No	ClinGen ExAC gnomAD
CA1245801 rs769011734	799	I>V		No	ClinGen ExAC gnomAD
rs1396280258 CA343731287	803	G>V		No	ClinGen gnomAD
rs774513620 CA1245802	804	P>S		No	ClinGen ExAC gnomAD
rs774513620 CA343731290	804	P>T		No	ClinGen ExAC gnomAD
rs535879781 CA343731302	805	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535879781 CA1245804	805	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	805	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA32701496 rs868096497	807	G>E		No	ClinGen Ensembl
CA343731338 rs1175936957	808	A>D		No	ClinGen TOPMed
rs1310428141 CA343731348	809	P>S		No	ClinGen gnomAD
CA32701519 rs946021808	810	P>L		No	ClinGen TOPMed
CA1245806 rs759018705	810	P>T		No	ClinGen ExAC gnomAD
CA1245807 rs764799239	811	V>D		No	ClinGen ExAC gnomAD
CA1245808 rs752335258	812	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1245809 rs557057290	813	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765190331 CA32701526	814	R>C		No	ClinGen Ensembl
CA1245810 rs763836520	814	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA32701531 rs1041688906	815	P>L		No	ClinGen TOPMed
CA1245811 rs751261776	817	P>L		No	ClinGen ExAC gnomAD
rs1573701756 CA343731452	818	L>F		No	ClinGen Ensembl
rs1254752214 CA343731465	819	P>L		No	ClinGen gnomAD
CA343731456 rs1188827161	819	P>T		No	ClinGen gnomAD
CA32701536 rs561998894	820	P>S		No	ClinGen gnomAD
CA343731485 rs1573701830	821	F>S		No	ClinGen Ensembl
CA343731502 rs750219897	822	P>H		No	ClinGen gnomAD
rs750219897 CA32701549	822	P>L		No	ClinGen gnomAD
rs1179077299 CA343731522	824	S>N		No	ClinGen TOPMed
CA343731517 rs1232191089	824	S>R		No	ClinGen TOPMed
CA1245814 rs745866864	825	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1245815 rs756248585	826	D>E		No	ClinGen ExAC gnomAD
CA1245816 rs780223415	827	S>P		No	ClinGen ExAC gnomAD
TCGA novel	827	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371582299 CA1245817	828	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748440636 CA1245820	829	G>A		No	ClinGen ExAC gnomAD
CA1245819 rs774656112	829	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374076357 CA32701575	830	A>P		No	ClinGen Ensembl
rs1348320503 CA343731610	831	P>L		No	ClinGen gnomAD
rs1306496498 CA343731640	834	V>I		No	ClinGen gnomAD
CA343731651 rs1317725169	835	P>T		No	ClinGen gnomAD
rs1218093582 CA343731663	836	S>T		No	ClinGen gnomAD
CA32701578 rs984484164	839	T>M		No	ClinGen TOPMed gnomAD
rs761230357 CA1245823	840	R>K		No	ClinGen ExAC gnomAD
CA343731722 rs1260057691	841	A>T		No	ClinGen gnomAD
CA343731729 rs1454685719	841	A>V		No	ClinGen TOPMed
rs1176962388 CA343731740	842	P>L		No	ClinGen TOPMed gnomAD
CA343731738 rs1176962388	842	P>R		No	ClinGen TOPMed gnomAD
CA1245824 rs766887576	842	P>S		No	ClinGen ExAC TOPMed gnomAD
CA343731757 rs1420497230	844	S>G		No	ClinGen gnomAD
CA1245826 rs774937727	844	S>I		No	ClinGen ExAC gnomAD
CA1245825 rs774937727	844	S>T		No	ClinGen ExAC gnomAD
rs1374260163 CA343731768	845	V>I		No	ClinGen gnomAD
TCGA novel	846	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777169998 CA1245845	848	R>Q		No	ClinGen ExAC gnomAD
rs375501050 CA1245844	848	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA343734719 rs1427639182	850	P>L		No	ClinGen gnomAD
TCGA novel	851	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1245846 rs762414275	854	P>T		No	ClinGen ExAC gnomAD
CA343734753 rs1408722577	856	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs371512174 CA1245847	856	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA343734754 rs371512174	856	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs773860682 CA1245848	860	I>V		No	ClinGen ExAC gnomAD
CA343734783 rs1195032487	861	R>C		No	ClinGen TOPMed gnomAD
rs183558699 CA1245849	861	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754437828 CA32709707	862	P>R		No	ClinGen Ensembl
rs1461567811 CA343734816	866	S>F		No	ClinGen TOPMed
rs750202983 CA1245852	869	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1421429335 CA343734860	869	D>V		No	ClinGen gnomAD

No associated diseases with Q9UQ16

8 regional properties for Q9UQ16

Type	Name	Position	InterPro Accession
domain	Dynamin stalk domain	215 - 501	IPR000375
domain	Dynamin, GTPase domain	6 - 294	IPR001401
domain	Pleckstrin homology domain	525 - 633	IPR001849
domain	Dynamin GTPase effector	654 - 745	IPR003130
conserved_site	Dynamin, GTPase region, conserved site	57 - 66	IPR019762
domain	GTPase effector domain	659 - 750	IPR020850
domain	Dynamin-type guanine nucleotide-binding (G) domain	28 - 294	IPR030381
domain	Dynamin, N-terminal	34 - 206	IPR045063

Functions

		Description
EC Number	3.6.5.5	Acting on GTP; involved in cellular and subcellular movement
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton	Microtubule-associated
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

18 GO annotations of cellular component

Name	Definition
apical tubulobulbar complex	Actin-based structures involved in establishing close contact between mature spermatids and Sertoli cells at the luminal end of the Sertoli cell.
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
basal tubulobulbar complex	Actin-based structures involved in establishing the blood-testis barrier of the Sertoli cell.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
dendritic spine head	Distal part of the dendritic spine, that carries the post-synaptic density.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic endocytic zone membrane	The region of the postsynaptic membrane that is part of the postsynaptic endocytic zone. This region of membrane is associated with stable clathrin puncta.
presynapse	The part of a synapse that is part of the presynaptic cell.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.
synaptic cleft	The narrow gap that separates the presynaptic and postsynaptic membranes, into which neurotransmitter is released.

8 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
identical protein binding	Binding to an identical protein or proteins.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
nitric-oxide synthase binding	Binding to nitric-oxide synthase.
structural constituent of postsynapse	The action of a molecule that contributes to the structural integrity of a postsynapse.
type 1 metabotropic glutamate receptor binding	Binding to a type 1 metabotropic glutamate receptor.
type 5 metabotropic glutamate receptor binding	Binding to a type 5 metabotropic glutamate receptor.

9 GO annotations of biological process

Name	Definition
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
filopodium assembly	The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
negative regulation of dendritic spine morphogenesis	Any process that decreases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
positive regulation of filopodium assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
positive regulation of synaptic vesicle recycling	Any process that activates or increases the frequency, rate or extent of synaptic vesicle recycling.
postsynaptic neurotransmitter receptor internalization	A receptor-mediated endocytosis process that results in the internalization of a neurotransmitter receptor from the postsynaptic membrane endocytic zone into an endocytic vesicle.
receptor internalization	A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane.
synapse assembly	The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional).
synaptic vesicle endocytosis	A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O00429	DNM1L	Dynamin-1-like protein	Homo sapiens (Human)	PR
Q05193	DNM1	Dynamin-1	Homo sapiens (Human)	PR
Q8K1M6	Dnm1l	Dynamin-1-like protein	Mus musculus (Mouse)	PR
P39053	Dnm1	Dynamin-1	Mus musculus (Mouse)	PR
Q8BZ98	Dnm3	Dynamin-3	Mus musculus (Mouse)	PR
O35303	Dnm1l	Dynamin-1-like protein	Rattus norvegicus (Rat)	PR
P21575	Dnm1	Dynamin-1	Rattus norvegicus (Rat)	PR
Q08877	Dnm3	Dynamin-3	Rattus norvegicus (Rat)	PR
Q8LF21	DRP1C	Phragmoplastin DRP1C	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8S3C9	DRP1D	Phragmoplastin DRP1D	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGNREMEELI	PLVNRLQDAF	SALGQSCLLE	LPQIAVVGGQ	SAGKSSVLEN	FVGRDFLPRG
70	80	90	100	110	120
SGIVTRRPLV	LQLVTSKAEY	AEFLHCKGKK	FTDFDEVRLE	IEAETDRVTG	MNKGISSIPI
130	140	150	160	170	180
NLRVYSPHVL	NLTLIDLPGI	TKVPVGDQPP	DIEYQIREMI	MQFITRENCL	ILAVTPANTD
190	200	210	220	230	240
LANSDALKLA	KEVDPQGLRT	IGVITKLDLM	DEGTDARDVL	ENKLLPLRRG	YVGVVNRSQK
250	260	270	280	290	300
DIDGKKDIKA	AMLAERKFFL	SHPAYRHIAD	RMGTPHLQKV	LNQQLTNHIR	DTLPNFRNKL
310	320	330	340	350	360
QGQLLSIEHE	VEAYKNFKPE	DPTRKTKALL	QMVQQFAVDF	EKRIEGSGDQ	VDTLELSGGA
370	380	390	400	410	420
KINRIFHERF	PFEIVKMEFN	EKELRREISY	AIKNIHGIRT	GLFTPDMAFE	AIVKKQIVKL
430	440	450	460	470	480
KGPSLKSVDL	VIQELINTVK	KCTKKLANFP	RLCEETERIV	ANHIREREGK	TKDQVLLLID
490	500	510	520	530	540
IQVSYINTNH	EDFIGFANAQ	QRSSQVHKKT	TVGNQGTNLP	PSRQIVIRKG	WLTISNIGIM
550	560	570	580	590	600
KGGSKGYWFV	LTAESLSWYK	DDEEKEKKYM	LPLDNLKVRD	VEKSFMSSKH	IFALFNTEQR
610	620	630	640	650	660
NVYKDYRFLE	LACDSQEDVD	SWKASLLRAG	VYPDKSVAEN	DENGQAENFS	MDPQLERQVE
670	680	690	700	710	720
TIRNLVDSYM	SIINKCIRDL	IPKTIMHLMI	NNVKDFINSE	LLAQLYSSED	QNTLMEESAE
730	740	750	760	770	780
QAQRRDEMLR	MYQALKEALG	IIGDISTATV	STPAPPPVDD	SWIQHSRRSP	PPSPTTQRRP
790	800	810	820	830	840
TLSAPLARPT	SGRGPAPAIP	SPGPHSGAPP	VPFRPGPLPP	FPSSSDSFGA	PPQVPSRPTR
850	860
APPSVPSRRP	PPSPTRPTII	RPLESSLLD