AiPD: Autoinhibited Protein Database

Q13393

Gene name	PLD1
Protein name	Phospholipase D1
Names	PLD 1, hPLD1, Choline phosphatase 1, Phosphatidylcholine-hydrolyzing phospholipase D1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5337
EC number	3.1.4.4: Phosphoric diester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-79 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-79 (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 Q13393

Entry ID	Method	Resolution	Chain	Position	Source
6U8Z	X-ray	180 A	A	330-1074	PDB
AF-Q13393-F1	Predicted				AlphaFoldDB

933 variants for Q13393

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs765460828 CA2705085 RCV001330955	31	R>W	Cardiac valvular defect, developmental [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1719235551 RCV001283773	167	S>missing	Cardiac valvular defect, developmental [ClinVar]	Yes	ClinVar dbSNP
RCV002547356 rs368807491 RCV001336491 CA2704810	298	R>Q	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Cardiac valvular defect, developmental [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001280621 rs200206423 CA2704700	407	R>*	Variant assessed as Somatic; 0.0 impact. Cardiac valvular defect, developmental [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001200278 CA87731178 RCV002559279 rs974458049	413	V>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2704657 RCV003169551 rs146936145 RCV001331676	440	R>H	Inborn genetic diseases Cardiac valvular defect, developmental [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs769669104 CA87731132 VAR_078985 RCV000488889	442	H>P	Cardiac valvular defect, developmental CVDP1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001726194 rs778311238 RCV000488900	495	T>missing	Cardiac valvular defect, developmental [ClinVar]	Yes	ClinVar dbSNP
RCV001336488 rs1714706978	515	A>T	Cardiac valvular defect, developmental [ClinVar]	Yes	ClinVar dbSNP
RCV002517031 RCV000190783 rs556433569 CA204844	844	H>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs143219477 RCV001336490 CA2704192	857	I>V	Cardiac valvular defect, developmental [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	3	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	5	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355496378 rs1578387269	5	N>T		No	ClinGen Ensembl
rs376467720 CA2705098 COSM1308820	6	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
rs1418076137 CA355496331	7	P>R		No	ClinGen gnomAD
CA2705096 rs372960502	8	R>Q		No	ClinGen ESP ExAC gnomAD
COSM1041306 rs771670632 CA2705097	8	R>W	endometrium Variant assessed as Somatic; 9.256e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA87735366 rs991019705	12	S>P		No	ClinGen TOPMed gnomAD
CA2705094 rs138981904	19	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA87735365 rs948429724	19	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA355496136 rs1305556772	20	D>A		No	ClinGen gnomAD
CA355496140 rs1203633745	20	D>H		No	ClinGen gnomAD
CA355496127 rs1246649670	21	M>V		No	ClinGen gnomAD
CA355496106 rs1381897673	22	S>N		No	ClinGen gnomAD
rs777668070 CA355496081	24	I>F		No	ClinGen ExAC gnomAD
rs755831248 CA2705091	24	I>T		No	ClinGen ExAC gnomAD
rs777668070 CA2705092	24	I>V		No	ClinGen ExAC gnomAD
rs1373674701 CA355496073	25	I>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355496068 rs1178818994	25	I>T		No	ClinGen TOPMed
TCGA novel	26	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748161873 CA2705090	26	E>D		No	ClinGen ExAC gnomAD
CA355496032 rs1460095068	28	L>V		No	ClinGen gnomAD
CA2705089 rs780982825	29	D>E		No	ClinGen ExAC gnomAD
CA355496020 rs1353139460	29	D>N		No	ClinGen gnomAD
CA2705088 rs145098542	30	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs145098542 CA87735340	30	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2705087 rs777640381	31	R>P		No	ClinGen ExAC
CA87735306 rs938355459	31	R>Q		No	ClinGen Ensembl
CA2705083 rs747664022	32	E>VK*		No	ClinGen ExAC gnomAD
CA2705082 rs757424145	33	L>F		No	ClinGen ExAC gnomAD
CA355495956 rs1343389829	34	H>P		No	ClinGen TOPMed
CA355495958 rs1302335438	34	H>Y		No	ClinGen TOPMed
RCV000897949 CA2705080 rs149184731	35	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2705078 rs776132146	37	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2705079 rs764482867	37	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2705077 rs776132146	37	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1222906638 CA355495897	38	E>G		No	ClinGen gnomAD
CA87735265 rs947563029	40	V>I		No	ClinGen Ensembl
rs191844762 CA2705075	42	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
rs770735313 CA2705073	43	D>N		No	ClinGen ExAC gnomAD
rs748985008 CA2705072	43	D>V		No	ClinGen ExAC gnomAD
COSM1041304 rs769693055 CA2705070	44	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1405909876 CA355495836	46	P>L		No	ClinGen gnomAD
CA2705068 rs146060699	47	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1268682665 CA355495833	47	S>R		No	ClinGen TOPMed
CA355495821 rs1455751750	48	D>E		No	ClinGen gnomAD
CA2705066 rs745972429	48	D>N		No	ClinGen ExAC TOPMed gnomAD
CA355495825 rs745972429	48	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs9819927 RCV000880220 CA2705065 VAR_034387	49	P>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1418661054 COSM1420629 CA355495816	49	P>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA2705064 rs757297763	50	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2705063 rs754108404	51	I>T		No	ClinGen ExAC
rs1553839327 CA355495798	52	Q>P		No	ClinGen Ensembl
rs1578386556 CA355495781	54	V>M		No	ClinGen Ensembl
rs951473258 CA87735053	55	Y>C		No	ClinGen TOPMed gnomAD
rs753133914 CA2705036	59	S>F		No	ClinGen ExAC gnomAD
CA355495585 rs1318910120	60	A>T		No	ClinGen TOPMed
rs1469513481 CA355495571	61	I>V		No	ClinGen gnomAD
CA2705035 rs201053583	63	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2705034 rs752166174	63	N>K		No	ClinGen ExAC TOPMed gnomAD
rs372973094 CA2705031	64	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2705032 rs372973094	64	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761333400 CA2705028	69	E>A		No	ClinGen ExAC gnomAD
CA2705029 rs764968533	69	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355495350 rs1274655581	71	N>K		No	ClinGen gnomAD
rs1340502088 CA355495332	72	I>R		No	ClinGen gnomAD
rs1340502088 CA355495334	72	I>T		No	ClinGen gnomAD
rs1197991307 CA355495342	72	I>V		No	ClinGen gnomAD
CA2705024 rs768385561	74	T>A		No	ClinGen ExAC gnomAD
COSM297770 rs1484817822 CA355495295	74	T>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1385570922 CA355495272	75	Y>*		No	ClinGen gnomAD
CA2705021 rs771939485	78	G>D		No	ClinGen ExAC gnomAD
rs1479936828 CA355495234	78	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA355495221 rs771939485	78	G>V		No	ClinGen ExAC gnomAD
rs1430878673 CA355495137	82	K>I		No	ClinGen TOPMed
CA355495115 rs1338986336	84	Q>E		No	ClinGen gnomAD
CA355495100 rs1414530513	84	Q>L		No	ClinGen TOPMed
rs201050946 CA2705020	85	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2705019 rs777673202	87	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2705018 rs748365196	89	E>K		No	ClinGen ExAC gnomAD
rs748365196 CA2705017	89	E>Q		No	ClinGen ExAC gnomAD
rs1426516894 CA355495041	90	R>C		No	ClinGen TOPMed gnomAD
CA2705016 RCV002116746 rs149506327 COSM1041303	90	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2705015 rs755457632	92	T>I		No	ClinGen ExAC gnomAD
CA355495003 rs1443114869	93	S>F		No	ClinGen Ensembl
CA2705014 rs377121410	93	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2705013 rs780724576	94	T>S		No	ClinGen ExAC
rs758928330 CA2705012	95	T>A		No	ClinGen ExAC gnomAD
CA355494964 rs764694399	96	R>S		No	ClinGen ExAC gnomAD
rs749983044 CA2705011	96	R>T		No	ClinGen ExAC TOPMed gnomAD
CA87754218 rs369790266	97	V>A		No	ClinGen ESP
rs1399603541 CA355509444	97	V>L		No	ClinGen gnomAD
rs745380460 CA87754217	98	P>S		No	ClinGen TOPMed gnomAD
CA2704989 rs763758434	99	S>N		No	ClinGen ExAC gnomAD
CA2704987 rs377248314	105	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477353075 CA355509360	108	T>R		No	ClinGen gnomAD
rs1163729788 CA355509362	108	T>S		No	ClinGen TOPMed
rs767345407 CA2704986	109	H>Y		No	ClinGen ExAC gnomAD
CA87754213 rs976340439	110	G>E		No	ClinGen TOPMed
rs1216668208 CA355509336	112	F>I		No	ClinGen gnomAD
CA2704984 rs774218230	113	K>N		No	ClinGen ExAC gnomAD
rs766269167 CA2704983	114	W>C		No	ClinGen ExAC TOPMed gnomAD
CA2704981 rs776808736	116	V>D		No	ClinGen ExAC gnomAD
rs761815873 CA355509305	116	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761815873 CA2704982	116	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769034047 CA2704980	117	K>E		No	ClinGen ExAC TOPMed gnomAD
CA355509260 rs1364063156	122	H>R		No	ClinGen TOPMed gnomAD
rs1392335676 CA355509241	124	Q>H		No	ClinGen TOPMed
CA2704978 rs775834891	125	E>K		No	ClinGen ExAC gnomAD
rs775834891 CA355509240	125	E>Q		No	ClinGen ExAC gnomAD
CA2704977 rs772624558	128	R>K		No	ClinGen ExAC TOPMed gnomAD
CA355509206 rs1470026509	129	E>D		No	ClinGen gnomAD
rs145174960 CA2704976	129	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704975 rs779293445	130	L>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355509195 rs1578381292	131	L>R		No	ClinGen Ensembl
rs990731455 CA355509166	135	A>G		No	ClinGen TOPMed gnomAD
CA355509170 rs1422007880	135	A>T		No	ClinGen gnomAD
rs990731455 CA87754177	135	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2704974 rs748779993	137	I>F		No	ClinGen ExAC TOPMed gnomAD
CA2704973 rs748779993	137	I>V		No	ClinGen ExAC TOPMed gnomAD
rs371793757 CA2704971	138	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs752402428 CA2704970	138	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752402428 CA355509150	138	R>L		No	ClinGen ExAC TOPMed gnomAD
rs371793757 CA2704972	138	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376334501 CA2704968	139	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs935847529 CA87754159	140	P>L		No	ClinGen Ensembl
CA2704967 rs751314572	141	I>L		No	ClinGen ExAC gnomAD
CA87754155 rs866028427	142	P>L		No	ClinGen TOPMed
CA355509128 rs866028427	142	P>R		No	ClinGen TOPMed
CA355509122 rs1181094354	143	T>I		No	ClinGen TOPMed
rs1253788087 CA355509117	144	R>K		No	ClinGen TOPMed
CA355509085 rs200734423	147	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs200734423 CA2704954	147	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704952 rs376280389	152	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780832582 CA355509045	153	V>F		No	ClinGen ExAC TOPMed gnomAD
COSM1041302 rs780832582 CA2704951	153	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs147370952 CA355509041	154	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483475023 CA355509034	155	E>K		No	ClinGen TOPMed gnomAD
CA355509033 rs1483475023	155	E>Q		No	ClinGen TOPMed gnomAD
CA355509026 rs1320602379	156	E>K		No	ClinGen gnomAD
rs751346031 CA2704949	158	R>*		No	ClinGen ExAC TOPMed gnomAD
rs779941959 CA2704948	158	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA355508999 rs1560262638	160	M>L		No	ClinGen Ensembl
TCGA novel	164	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704944 rs765261809	165	R>C		No	ClinGen ExAC gnomAD
CA2704943 rs148972595 RCV000953207	165	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752768745 CA2704942	171	I>V		No	ClinGen ExAC gnomAD
CA355508916 rs759840625	172	R>I		No	ClinGen ExAC TOPMed gnomAD
CA2704939 rs759840625	172	R>K		No	ClinGen ExAC TOPMed gnomAD
CA2704940 rs759840625	172	R>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	173	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704938 rs774414269	173	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771384475 CA87753891	175	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs771384475 CA2704937	175	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA355508891 rs1181266138	176	F>L		No	ClinGen gnomAD
CA355508889 rs1329344756	176	F>Y		No	ClinGen TOPMed
CA2704935 rs773708386	177	L>P		No	ClinGen ExAC gnomAD
rs773708386 CA355508880	177	L>R		No	ClinGen ExAC gnomAD
CA87753877 rs750513824	178	G>D		No	ClinGen TOPMed
rs996367505 CA87753242	181	K>R		No	ClinGen Ensembl
rs1384357002 CA355508819	185	D>Y		No	ClinGen gnomAD
CA355508788 rs1370734607	189	K>R		No	ClinGen TOPMed
CA355508781 rs1366045097	190	I>T		No	ClinGen gnomAD
CA2704909 rs745681076	193	M>I		No	ClinGen ExAC
rs901980511 CA87753213	194	P>A		No	ClinGen Ensembl
rs1578376879 CA355508720	195	M>V		No	ClinGen Ensembl
rs757094096 CA2704907	196	Y>*		No	ClinGen ExAC gnomAD
rs778891060 CA2704908	196	Y>H		No	ClinGen ExAC gnomAD
CA355508659 rs1176963321	199	Y>N		No	ClinGen TOPMed gnomAD
rs1560261189 CA355508644	200	H>D		No	ClinGen Ensembl
rs749304975 CA2704906	200	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2704905 rs377512926	201	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1204677716 CA355508618	202	T>A		No	ClinGen TOPMed
CA355507270 rs1262292309	203	T>A		No	ClinGen TOPMed
CA2704891 rs759309214	204	E>*		No	ClinGen ExAC gnomAD
CA355507192 rs1486048302	207	D>H		No	ClinGen TOPMed
CA2704890 rs201760337	208	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355507152 rs1226751699	209	S>G		No	ClinGen gnomAD
rs770915209 CA2704889	209	S>N		No	ClinGen ExAC gnomAD
CA2704888 rs748966003	210	Q>*		No	ClinGen ExAC gnomAD
CA355507106 rs1264799163	211	L>V		No	ClinGen TOPMed
CA2704886 rs752915170	215	H>R		No	ClinGen ExAC gnomAD
rs1338897869 CA355507035	215	H>Y		No	ClinGen gnomAD
TCGA novel	220	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs942903824 CA87749793	222	I>T		No	ClinGen TOPMed gnomAD
rs772209659 CA2704865	226	I>M		No	ClinGen ExAC gnomAD
CA2704866 rs148653650	226	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704867 rs748087277	226	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1372535375 CA355506909	227	M>V		No	ClinGen TOPMed
CA355506886 rs1159464458	230	S>T		No	ClinGen gnomAD
CA2704862 rs147193827	232	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355506865 rs1180435478	233	H>R		No	ClinGen gnomAD
rs1479320110 CA355506860	234	R>G		No	ClinGen gnomAD
CA2704861 rs370317450	234	R>K		No	ClinGen ESP ExAC gnomAD
CA355506843 rs1198337944	236	P>L		No	ClinGen gnomAD
rs149535568 CA2704859	237	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs572883180 CA2704858	239	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355506795 rs1485386763	243	Q>H		No	ClinGen Ensembl
CA2704855 rs751060315	243	Q>R		No	ClinGen ExAC gnomAD
rs762549670 CA2704853	244	G>A		No	ClinGen ExAC TOPMed gnomAD
rs762549670 CA2704854	244	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2704852 rs772902134	247	C>R		No	ClinGen ExAC gnomAD
rs945315332 CA87749128	249	R>S		No	ClinGen Ensembl
rs902645388 CA87749117	250	W>S		No	ClinGen TOPMed
CA355506744 rs1256387785	251	S>*		No	ClinGen Ensembl
CA2704851 rs747332053	251	S>P		No	ClinGen ExAC TOPMed gnomAD
CA2704850 rs560866941	253	R>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2704830 rs750114166	254	W>G		No	ClinGen ExAC TOPMed gnomAD
CA355506340 rs1457478148	255	L>S		No	ClinGen TOPMed
CA87744313 rs965457589	257	V>A		No	ClinGen TOPMed
CA355506303 rs1333882356	260	S>F		No	ClinGen TOPMed gnomAD
CA355506305 rs1333882356	260	S>Y		No	ClinGen TOPMed gnomAD
CA2704827 rs553490918	263	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA355506278 rs1448940651	264	Y>C		No	ClinGen gnomAD
CA355506277 rs1448940651	264	Y>F		No	ClinGen gnomAD
rs1015695024 CA87744291	264	Y>H		No	ClinGen Ensembl
CA2704825 rs764051022	267	P>S		No	ClinGen ExAC gnomAD
CA2704823 rs146296743	269	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355506237 rs1484029367	270	G>R		No	ClinGen TOPMed gnomAD
rs1484029367 CA355506236	270	G>S		No	ClinGen TOPMed gnomAD
CA355506222 rs1227492747	272	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2704822 rs770981670	272	I>V		No	ClinGen ExAC gnomAD
rs370939132 CA2704820	275	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs781717906 CA2704817	280	K>E		No	ClinGen ExAC gnomAD
rs376804256 CA2704816 COSM1220999	281	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs747580545 CA2704815	281	E>A		No	ClinGen ExAC gnomAD
rs376804256 COSM3940392 CA87744262	281	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA87744256 rs886563353	282	F>I		No	ClinGen TOPMed
TCGA novel	284	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	285	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1044277483 CA87744248	290	E>D		No	ClinGen TOPMed gnomAD
rs142070781 CA2704813 RCV000958531	290	E>Q		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP
TCGA novel	292	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368827074 CA355505976	292	E>D		No	ClinGen gnomAD
CA2704812 rs200560558	293	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	294	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs930666595 CA87744237	295	Y>C		No	ClinGen TOPMed gnomAD
rs930666595 CA355505940	295	Y>S		No	ClinGen TOPMed gnomAD
CA355505925 rs1250463503	296	G>E		No	ClinGen TOPMed
rs1179971958 CA355505931	296	G>R		No	ClinGen gnomAD
CA2704811 rs373694099	298	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA355505888 rs1482012782	299	I>T		No	ClinGen gnomAD
TCGA novel	302	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355504255 rs1373033088	307	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355504228 rs1216931425	308	L>*		No	ClinGen TOPMed
CA355504179 rs1228153480	310	C>W		No	ClinGen TOPMed gnomAD
rs1315733609 CA355504171	311	N>D		No	ClinGen gnomAD
CA2704790 rs769212086	311	N>S		No	ClinGen ExAC gnomAD
CA2704786 rs371728710	317	R>P		No	ClinGen ESP ExAC gnomAD
CA2704787 rs371728710	317	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA2704788 rs371154750	317	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2704784 rs778526953	318	W>C		No	ClinGen ExAC gnomAD
CA2704785 rs745402224	318	W>R		No	ClinGen ExAC gnomAD
CA355504050 rs1236037428	319	W>*		No	ClinGen TOPMed
CA355504043 rs1456685056	319	W>*		No	ClinGen gnomAD
rs753553330 CA2704782	321	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2704781 rs777338090	322	A>P		No	ClinGen ExAC gnomAD
rs777338090 CA355504014	322	A>T		No	ClinGen ExAC gnomAD
CA355503993 rs1264701195	323	I>T		No	ClinGen gnomAD
CA355504002 rs1432484510	323	I>V		No	ClinGen TOPMed gnomAD
CA2704779 rs138886146	324	E>A		No	ClinGen ESP ExAC gnomAD
CA2704777 rs759554929	328	Q>E		No	ClinGen ExAC gnomAD
CA355503917 rs1206367770	329	K>E		No	ClinGen gnomAD
CA355503881 rs1216268681	331	G>C		No	ClinGen TOPMed
CA355503879 rs1349003489	331	G>D		No	ClinGen TOPMed gnomAD
rs569380683 CA2704776	332	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs368280106 CA87741641	333	N>S		No	ClinGen ESP TOPMed gnomAD
CA87741647 rs368280106	333	N>T		No	ClinGen ESP TOPMed gnomAD
rs1230690327 CA355503825	335	L>P		No	ClinGen gnomAD
rs761981958 CA2704774	335	L>V		No	ClinGen ExAC gnomAD
rs776999766 CA2704773	337	D>G		No	ClinGen ExAC gnomAD
rs1320154960 CA355503783	338	H>R		No	ClinGen TOPMed gnomAD
rs768945976 CA2704772	339	R>G		No	ClinGen ExAC gnomAD
CA87741631 rs527440335	339	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2704769 rs767778500	343	Y>*		No	ClinGen ExAC gnomAD
rs775884976 CA2704770	343	Y>C		No	ClinGen ExAC gnomAD
rs1455685810 CA355503698	344	A>V		No	ClinGen TOPMed
rs1375847662 CA355503645	348	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355503629 rs1464168531	349	N>S		No	ClinGen gnomAD
rs150210391 CA2704751	354	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA355503480 rs150210391 CA355503479	354	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704749 rs539683451	355	Y>*		No	ClinGen 1000Genomes ExAC TOPMed
CA2704750 rs759751091	355	Y>C		No	ClinGen ExAC gnomAD
CA2704748 rs771377607	356	V>I		No	ClinGen ExAC TOPMed gnomAD
rs748826768 CA2704747	358	A>V		No	ClinGen ExAC gnomAD
rs1186316184 CA355503421	359	K>R		No	ClinGen gnomAD
TCGA novel	360	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704746 CA2704745 rs566137198	360	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA355503390 rs1343067874	361	Y>*		No	ClinGen gnomAD
CA2704744 rs747889516	362	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1560237885 CA355503342	367	N>D		No	ClinGen Ensembl
rs780700956 CA355503336	367	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1207958919 CA355503339	367	N>S		No	ClinGen gnomAD
rs1274076083 CA355503333	368	A>T		No	ClinGen TOPMed gnomAD
CA2704740 rs141049239 CA355503324	369	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355503326 rs1358821607	369	M>T		No	ClinGen TOPMed gnomAD
rs201443202 CA2704741	369	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355503311 rs1244264934	371	E>V		No	ClinGen gnomAD
rs200523325 CA2704739	373	N>S		No	ClinGen 1000Genomes ExAC
CA355503277 rs1353356289	375	E>K		No	ClinGen gnomAD
CA2704738 rs550220177	376	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs891836200 CA87741144	382	W>R		No	ClinGen Ensembl
TCGA novel	384	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752667445 CA2704715	385	P>S		No	ClinGen ExAC gnomAD
TCGA novel	386	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704714 rs781504193	386	E>D		No	ClinGen ExAC gnomAD
rs1438019755 CA355502386	386	E>G		No	ClinGen gnomAD
CA2704713 rs755191534	388	F>I		No	ClinGen ExAC TOPMed gnomAD
CA2704712 rs148128456	388	F>L		No	ClinGen ESP ExAC gnomAD
rs1407966802 CA355502370	389	L>V		No	ClinGen TOPMed gnomAD
rs764814520 CA87734026	390	K>R		No	ClinGen Ensembl
rs200121582 CA2704710	391	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2704709 rs750933266	391	R>H		No	ClinGen ExAC gnomAD
rs904719946 CA87734022	393	V>L		No	ClinGen TOPMed gnomAD
CA2704706 rs775965235	397	N>S		No	ClinGen ExAC gnomAD
rs143845082 RCV000882914 CA2704705	398	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760458250 CA2704704	398	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760458250 CA355502314	398	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748054270	400	R>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	400	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231631743 CA355502276	403	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355502272 rs768106097	404	I>F		No	ClinGen TOPMed gnomAD
CA87733999 rs768106097	404	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	406	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000883127 rs141850987 CA2704699	407	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2704697 rs201602698	409	A>G		No	ClinGen ExAC TOPMed gnomAD
CA355502242 rs1416468792	409	A>T		No	ClinGen gnomAD
COSM1186456 rs201602698 CA2704698	409	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA355501314 rs1274849591	411	Q>*		No	ClinGen gnomAD
rs1276935875 CA355501301	412	G>R		No	ClinGen TOPMed
rs768725877 CA2704672	415	I>N		No	ClinGen ExAC gnomAD
rs147571898 CA2704671	417	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147571898 CA2704670	417	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228448342 CA355501094	418	M>L		No	ClinGen gnomAD
CA355501089 rs758580896	418	M>R		No	ClinGen ExAC gnomAD
CA2704669 rs758580896	418	M>T		No	ClinGen ExAC gnomAD
CA355501077 rs1293250871	419	L>F		No	ClinGen gnomAD
CA2704668 rs746072321	419	L>P		No	ClinGen ExAC gnomAD
rs779195194 CA2704667	420	Y>C		No	ClinGen ExAC gnomAD
rs757632543 CA2704666	421	K>E		No	ClinGen ExAC gnomAD
COSM172729 CA2704664 rs369183504	426	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2704663 rs267599691	426	A>V		No	ClinGen ExAC gnomAD
CA2704662 rs752212799	428	G>C		No	ClinGen ExAC gnomAD
CA355500967 rs1486340317	428	G>D		No	ClinGen TOPMed
CA355500962 rs1190435261	429	I>L		No	ClinGen TOPMed
rs1262993485 CA355500942	430	N>S		No	ClinGen Ensembl
CA2704661 rs767102355	431	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1422789890 CA355500913	432	E>G		No	ClinGen TOPMed
rs201073177 CA87731152	433	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355500906 rs1473415620	433	Y>H		No	ClinGen gnomAD
rs1416242599 CA355500884	434	T>I		No	ClinGen TOPMed gnomAD
rs774036703 CA2704659	436	R>G		No	ClinGen ExAC
CA355500853 rs1176470344	437	T>N		No	ClinGen gnomAD
CA355500846 rs1578288730	438	L>*		No	ClinGen Ensembl
rs573013236 CA2704658	440	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146936145 CA355500818	440	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704655 rs769669104	442	H>R		No	ClinGen ExAC gnomAD
TCGA novel	443	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	443	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747125423 CA2704654	444	N>S		No	ClinGen ExAC gnomAD
rs1317702256 CA355500764	445	I>V		No	ClinGen TOPMed
rs1327165866	446	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765996454	447	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1370611775 CA355500544	447	V>A		No	ClinGen gnomAD
CA355500538 rs1389242863	448	M>I		No	ClinGen gnomAD
CA87729728 rs890086762	448	M>L		No	ClinGen TOPMed
CA87729725 rs200898565	448	M>R		No	ClinGen gnomAD
CA2704638 rs762675942	449	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1451288646 CA355500526	450	H>R		No	ClinGen gnomAD
CA87729724 rs908482128	450	H>Y		No	ClinGen Ensembl
CA2704636 rs141086000	451	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	453	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355500505 rs1471377555	453	H>R		No	ClinGen TOPMed
rs756146168 CA87729718	456	S>A		No	ClinGen Ensembl
rs1189902281 CA355500479	457	T>I		No	ClinGen gnomAD
CA2704633 rs369917466 COSM1041296	458	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA355500478 rs369917466	458	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1484846 CA2704631 rs774453063	459	Y>C	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs774453063 CA2704632	459	Y>S		No	ClinGen ExAC gnomAD
rs778329039 CA2704628	460	L>F		No	ClinGen ExAC gnomAD
TCGA novel	461	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212114485 CA355500461	461	W>R		No	ClinGen gnomAD
CA355500447 rs1347396385	462	A>V		No	ClinGen gnomAD
rs748727583 CA2704627	463	H>D		No	ClinGen ExAC TOPMed gnomAD
rs748727583 CA2704626	463	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs374719323 CA2704625	468	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA355500374 rs1355643102	468	V>I		No	ClinGen gnomAD
rs751030307 CA2704623	470	I>L		No	ClinGen ExAC gnomAD
CA2704622 rs779602612	470	I>T		No	ClinGen ExAC gnomAD
rs1282262179 CA355500327	471	D>E		No	ClinGen TOPMed
CA87729670 rs969133015	472	Q>P		No	ClinGen TOPMed
CA355500298 rs1373200099	473	S>*		No	ClinGen gnomAD
CA2704619 rs750057076	475	A>T		No	ClinGen ExAC gnomAD
CA355500258 rs1560218263	475	A>V		No	ClinGen Ensembl
CA87729656 rs1013292482	477	V>L		No	ClinGen Ensembl
CA355500188 rs1427240615	479	G>E		No	ClinGen TOPMed gnomAD
rs1190479746 CA355500200 CA355500197	479	G>R		No	ClinGen gnomAD
TCGA novel	481	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199960634 CA2704616	482	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199960634 CA2704617	482	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189048422 CA355500108	484	Y>C		No	ClinGen TOPMed gnomAD
CA355500090 rs1166036987	485	G>R		No	ClinGen TOPMed
rs774527301 CA2704613	487	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2704614 rs759559553	487	W>*		No	ClinGen ExAC gnomAD
CA355500053 rs1578278326	487	W>G		No	ClinGen Ensembl
rs892107441 CA87729634	488	D>G		No	ClinGen gnomAD
CA355500027 rs1207568473	488	D>H		No	ClinGen gnomAD
rs1207568473 CA355500031	488	D>N		No	ClinGen gnomAD
rs763289166 CA2704611	489	D>N		No	ClinGen ExAC gnomAD
rs773559766 CA2704610	490	N>S		No	ClinGen ExAC TOPMed gnomAD
CA355499929 rs1293864872	492	H>Q		No	ClinGen gnomAD
CA355499912 rs1331876086	493	R>S		No	ClinGen TOPMed
CA2704607 rs149680370	497	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA87729613 rs149680370	497	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1340016106 CA355499816	499	S>N		No	ClinGen TOPMed
rs371828917 CA2704605	502	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704606 rs80085541	502	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420593540 CA355499748	503	V>A		No	ClinGen gnomAD
rs779666048 CA2704604	503	V>F		No	ClinGen ExAC TOPMed gnomAD
rs779666048 CA2704603	503	V>I		No	ClinGen ExAC TOPMed gnomAD
rs139594385 CA2704602 COSM1220995	507	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs778474769 CA2704600	509	L>V		No	ClinGen ExAC gnomAD
CA355499673 rs1184862216	510	G>C		No	ClinGen gnomAD
rs147422973 RCV000900994 CA2704598	512	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1273670428 CA355499642	513	P>S		No	ClinGen TOPMed gnomAD
rs137972331 CA2704563 RCV000950662	514	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM241163 CA2704559 rs749004541	516	A>E	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2704560 rs187570378	516	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2704561 COSM1041295 rs187570378	516	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1193050133 CA355499230	517	M>T		No	ClinGen gnomAD
rs551129546 CA2704558	517	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2704557 rs755947733	519	S>P		No	ClinGen ExAC gnomAD
rs1382000337 CA355499164	522	S>T		No	ClinGen TOPMed
TCGA novel	524	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246783616 CA355499116	525	L>R		No	ClinGen TOPMed
rs747847656 CA2704556	526	K>N		No	ClinGen ExAC TOPMed gnomAD
CA355499100 rs1294974750	527	D>Y		No	ClinGen Ensembl
CA2704555 rs781220881	528	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs751518289 CA2704553	530	E>D		No	ClinGen ExAC gnomAD
CA2704554 rs755004069	530	E>K		No	ClinGen ExAC gnomAD
TCGA novel	531	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704551 rs757410450	532	V>A		No	ClinGen ExAC gnomAD
CA355499067 rs765472815	532	V>I		No	ClinGen ExAC gnomAD
rs765472815 CA2704552	532	V>L		No	ClinGen ExAC gnomAD
rs1337615044 CA355499054	534	N>D		No	ClinGen TOPMed
rs764165324 CA2704549	535	L>V		No	ClinGen ExAC TOPMed gnomAD
rs924201539 CA87729034	538	Q>*		No	ClinGen TOPMed
TCGA novel	538	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA87729033 rs748151212	538	Q>P		No	ClinGen TOPMed gnomAD
CA87729032 rs748151212	538	Q>R		No	ClinGen TOPMed gnomAD
CA355499024 rs1182172900	539	K>E		No	ClinGen TOPMed
rs1223986272 CA355499013	540	S>T		No	ClinGen gnomAD
CA355498999 rs1432103956	542	D>G		No	ClinGen gnomAD
rs761128195 CA2704548	543	D>G		No	ClinGen ExAC gnomAD
rs1437009152 CA355498979	545	D>Y		No	ClinGen gnomAD
CA2704544 rs774831624	551	I>M		No	ClinGen ExAC TOPMed gnomAD
RCV000907975 rs183029835 CA2704543	553	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1421738654 CA355498915	555	R>G		No	ClinGen gnomAD
rs762308267 CA2704542	556	K>R		No	ClinGen ExAC TOPMed gnomAD
rs772938689 CA2704541	557	F>V		No	ClinGen ExAC gnomAD
CA355498889 rs1189752427	558	S>F		No	ClinGen gnomAD
COSM1617204 rs1485890274 CA355498884	559	K>R	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA355498869 rs1279095894	561	S>N		No	ClinGen gnomAD
rs139390007 CA87729002	561	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370854254 CA355498865	562	L>I		No	ClinGen TOPMed gnomAD
rs1343940522 CA355498855	563	Y>C		No	ClinGen gnomAD
CA2704538 rs781181178	565	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1578274754 CA355498836	566	L>F		No	ClinGen Ensembl
rs1327125126 CA355498824	567	H>Q		No	ClinGen gnomAD
rs373452262 CA2704537	568	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704536 rs747010478	568	R>S		No	ClinGen ExAC gnomAD
rs867942735 CA87728976	569	H>N		No	ClinGen Ensembl
CA355498812 rs1312726208	569	H>Q		No	ClinGen gnomAD
CA2704535 rs780072267	569	H>R		No	ClinGen ExAC
CA2704534 rs757426953	570	H>Y		No	ClinGen ExAC gnomAD
rs1356548727 CA355498803	571	L>V		No	ClinGen TOPMed gnomAD
CA87728954 CA355498795 rs146264662	572	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369537882 CA2704532	572	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704533 rs200929525	572	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA2704530 COSM1220996 rs752945736	573	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA355498784 rs1185602764	574	A>E		No	ClinGen gnomAD
rs192083943 CA2704528	574	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233138480 CA355498777	575	D>E		No	ClinGen gnomAD
rs1025556870 CA87728950	575	D>G		No	ClinGen TOPMed gnomAD
rs1481397781 CA355498782	575	D>N		No	ClinGen gnomAD
rs1025556870 CA355498778	575	D>V		No	ClinGen TOPMed gnomAD
CA355498772 rs1560216532	576	S>N		No	ClinGen Ensembl
CA2704526 rs766819875	578	S>G		No	ClinGen ExAC gnomAD
rs1560216493 CA355498757	578	S>N		No	ClinGen Ensembl
rs772636060 CA2704524	580	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	581	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704523 rs769325260	583	T>I		No	ClinGen ExAC gnomAD
rs1578274295 CA355498723	583	T>P		No	ClinGen Ensembl
rs995862206 CA87728931	584	S>P		No	ClinGen TOPMed gnomAD
CA87728705 rs1045449932	587	F>L		No	ClinGen TOPMed
CA355498667 rs1393582874	589	H>R		No	ClinGen gnomAD
CA2704506 rs750927877	589	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA87728695 rs1047396802	590	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2704502 rs761320569	592	S>N		No	ClinGen ExAC gnomAD
rs776439277 CA2704501	593	H>P		No	ClinGen ExAC gnomAD
CA355498631 rs1453292556	594	H>R		No	ClinGen gnomAD
CA2704499 rs763791926	596	L>S		No	ClinGen ExAC gnomAD
TCGA novel	598	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704498 rs760581160	598	H>R		No	ClinGen ExAC gnomAD
CA355498604 rs1189988586	598	H>Y		No	ClinGen TOPMed gnomAD
CA2704497 rs775468956	600	L>*		No	ClinGen ExAC gnomAD
rs771883292 CA2704496	603	H>R		No	ClinGen ExAC
CA355498547 rs1215580943	603	H>Y		No	ClinGen gnomAD
rs1218708398 CA355498518	605	K>E		No	ClinGen Ensembl
CA2704495 rs745855475	608	H>D		No	ClinGen ExAC gnomAD
rs769772691 CA2704493	608	H>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1420625 rs577809685 CA2704494	608	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs371395461 CA2704492	609	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA87728672 rs928955246	609	P>S		No	ClinGen Ensembl
rs1383841808 CA355498446	610	S>F		No	ClinGen gnomAD
CA355498437 rs1362638694	611	S>G		No	ClinGen TOPMed gnomAD
CA2704490 rs755231943	611	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2704489 rs780340887	615	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs780340887 CA2704488	615	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs758784629 CA2704487	617	L>P		No	ClinGen ExAC gnomAD
rs370952074 CA2704486	618	T>I		No	ClinGen ExAC TOPMed gnomAD
rs370952074 CA2704485	618	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2704483 rs140003741	620	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373926838 CA2704484	620	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704482 rs144289377	621	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2704481 VAR_022056 rs2290480	622	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2290480 CA355498293	622	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2704465 rs754377461	623	D>V		No	ClinGen ExAC gnomAD
CA355497434 rs1353776696	624	T>A		No	ClinGen TOPMed
rs777487959 CA2704464	624	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2704462 CA2704461 rs542007369	625	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC gnomAD NCI-TCGA
TCGA novel	626	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704459 COSM3660345 rs751406866	627	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2704457 rs574828502	628	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA355497385 rs773129215	628	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773129215 CA2704456	628	R>L		No	ClinGen ExAC TOPMed gnomAD
rs574828502 CA2704458	628	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	630	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577340901 CA87724576	631	Q>H		No	ClinGen Ensembl
CA355497319 rs1330501327	633	G>V		No	ClinGen gnomAD
COSM582597 rs1033128407 CA87724569	636	E>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1328767330 CA355497257	637	L>P		No	ClinGen TOPMed gnomAD
rs1328767330 CA355497259	637	L>Q		No	ClinGen TOPMed gnomAD
rs760690103 CA2704454	639	G>R		No	ClinGen ExAC
CA355497176 rs1397377284	642	R>G		No	ClinGen gnomAD
CA2704453 rs184673734	646	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1475100087 CA355497015	648	D>E		No	ClinGen gnomAD
TCGA novel	650	C>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200255431 CA2704450	652	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746047477 CA2704451	652	F>S		No	ClinGen ExAC
CA87724519 rs890068626	653	V>I		No	ClinGen gnomAD
CA2704448 rs749882128	654	F>L		No	ClinGen ExAC gnomAD
CA2704447 rs778361865	654	F>Y		No	ClinGen ExAC gnomAD
CA2704446 rs755705000	656	D>V		No	ClinGen ExAC gnomAD
rs934209265 CA355496831	657	W>G		No	ClinGen gnomAD
rs934209265 CA87724488	657	W>R		No	ClinGen gnomAD
rs780535070 CA2704444	659	Q>K		No	ClinGen ExAC gnomAD
CA2704442 rs762462912	661	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2704443 rs762462912	661	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1306420964 CA355496696	663	P>L		No	ClinGen gnomAD
rs1442508464 CA355496690	664	F>L		No	ClinGen gnomAD
CA2704418 rs767706072	666	D>G		No	ClinGen ExAC gnomAD
CA87724482 rs1037170438	666	D>Y		No	ClinGen Ensembl
CA87724108 rs754786825	667	F>V		No	ClinGen Ensembl
COSM3695916 CA2704417 rs150452354	668	I>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1216645569 CA355496438	668	I>T		No	ClinGen TOPMed
CA87724104 rs1027148359	672	S>F		No	ClinGen Ensembl
CA2704416 rs143178237	673	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2704414 rs763233081	674	P>L		No	ClinGen ExAC gnomAD
rs1348228125 CA355496332	674	P>T		No	ClinGen gnomAD
TCGA novel	675	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355496316 rs770267182	675	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2704412 rs770267182	675	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs202167212 CA2704413	675	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748754558 CA2704411	676	M>L		No	ClinGen ExAC gnomAD
CA355496247 rs1191019102	678	W>C		No	ClinGen TOPMed
CA355496238 rs1560206299	679	H>N		No	ClinGen Ensembl
rs1262081908 CA355496226	679	H>Q		No	ClinGen TOPMed
CA2704409 rs776935649	680	D>N		No	ClinGen ExAC gnomAD
CA2704408 rs768225610	681	I>M		No	ClinGen ExAC gnomAD
CA2704407 rs746455962	682	A>V		No	ClinGen ExAC gnomAD
CA2704406 rs115084370	684	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757001152 CA2704402	687	G>E		No	ClinGen ExAC gnomAD
CA2704403 rs371426651	687	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355496091 rs139363214	689	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704401 rs139363214	689	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704399 rs755112865	690	A>P		No	ClinGen ExAC gnomAD
CA2704398 rs368724626	691	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs146885315 CA2704396	691	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2704397 rs146885315	691	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773561636 CA2704395	692	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs930512667 CA87724045	692	D>V		No	ClinGen TOPMed
CA2704394 rs765637820	693	V>A		No	ClinGen ExAC gnomAD
rs765637820 CA355496048	693	V>E		No	ClinGen ExAC gnomAD
CA355496053 rs1367416862	693	V>M		No	ClinGen TOPMed
rs762026031 CA2704393	695	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2704392 rs777216916	695	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1276673479 CA355496015	696	H>L		No	ClinGen gnomAD
rs1349390378 CA355495995	698	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2704391 rs769004842	698	I>T		No	ClinGen ExAC gnomAD
CA2704390 rs201247680	700	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2704389 rs779685238	700	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355495955 rs1445829786	701	W>*		No	ClinGen gnomAD
rs141125847 CA87724029	703	F>L		No	ClinGen ESP TOPMed gnomAD
TCGA novel	704	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704361 rs748098662	706	I>T		No	ClinGen ExAC gnomAD
rs1417664431 CA355493639	706	I>V		No	ClinGen TOPMed
rs781216021 CA2704360	707	M>T		No	ClinGen ExAC TOPMed gnomAD
CA355493506 rs779019688	712	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2704357 rs779019688	712	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2704358 rs750491194	712	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1239440122 CA355493493	713	S>C		No	ClinGen gnomAD
CA2704355 rs754079957	714	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355493452 rs763329957	716	Y>C		No	ClinGen gnomAD
CA87723065 rs763329957	716	Y>F		No	ClinGen gnomAD
rs764435107 CA2704353	716	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs764435107 CA355493455	716	Y>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	717	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355493435 rs1345364230	717	P>L		No	ClinGen gnomAD
CA355493387 rs1251439223	720	L>F		No	ClinGen gnomAD
CA2704352 rs760966191	720	L>P		No	ClinGen ExAC gnomAD
CA2704351 rs753220000	722	K>E		No	ClinGen ExAC gnomAD
rs1310843705 CA355493368	722	K>R		No	ClinGen TOPMed
CA2704349 rs759082030	723	S>C		No	ClinGen ExAC gnomAD
rs773778734 CA2704348	725	T>A		No	ClinGen ExAC gnomAD
rs1051378236 CA87723045	726	T>I		No	ClinGen TOPMed
rs191802678 CA2704345	727	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1487461688 CA355493240	728	H>L		No	ClinGen TOPMed gnomAD
rs1487461688 CA355493242	728	H>R		No	ClinGen TOPMed gnomAD
CA355493224 rs1310951248	729	E>*		No	ClinGen gnomAD
rs143100389 CA87723022	731	R>*		No	ClinGen ESP gnomAD
TCGA novel	731	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769771470 CA2704343	731	R>T		No	ClinGen ExAC gnomAD
CA355493150 rs1209076610	732	Y>*		No	ClinGen TOPMed
CA87723020 rs977368322	733	Q>R		No	ClinGen TOPMed gnomAD
rs776749857 CA2704341	734	V>M		No	ClinGen ExAC gnomAD
CA355493072 rs1341840139	735	P>R		No	ClinGen TOPMed
rs746893949 CA2704339	737	S>A		No	ClinGen ExAC gnomAD
TCGA novel	738	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465130781 CA355492925	742	V>G		No	ClinGen TOPMed gnomAD
CA2704336 rs749537417	742	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1174578304 CA355492908	743	Q>H		No	ClinGen gnomAD
rs756515838 CA2704334	743	Q>L		No	ClinGen ExAC gnomAD
rs756515838 CA2704335	743	Q>R		No	ClinGen ExAC gnomAD
CA355530302 rs966829250	744	L>F		No	ClinGen gnomAD
CA2704324 rs745485055	746	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768512768 COSM208102 CA2704323	746	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1420216877 CA355530286	747	S>F		No	ClinGen gnomAD
CA355530279 rs1188511417	748	A>V		No	ClinGen gnomAD
CA2704322 rs746924008	749	A>V		No	ClinGen ExAC gnomAD
rs775490774 CA355530267	750	D>E		No	ClinGen ExAC gnomAD
TCGA novel	753	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704320 rs749362935	754	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2704319 rs749362935	754	G>D		No	ClinGen ExAC TOPMed gnomAD
rs781545382 CA2704315	762	I>V		No	ClinGen ExAC TOPMed gnomAD
CA355530181 rs1243593108	763	H>N		No	ClinGen gnomAD
rs987473173 CA88119862	764	A>P		No	ClinGen TOPMed gnomAD
CA355530173 rs987473173	764	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757887725 CA2704311	765	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2704312 rs757887725	765	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2704310 TCGA novel rs749711845	766	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC
rs764791764 COSM1041291 CA2704308	767	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs761570768 CA2704307	768	H>R		No	ClinGen ExAC gnomAD
CA355530138 rs999009318 CA88119861	770	I>L		No	ClinGen TOPMed gnomAD
CA2704305 rs568658302	770	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs776355453 CA2704306	770	I>T		No	ClinGen ExAC
rs760502953 CA2704304	771	E>V		No	ClinGen ExAC gnomAD
TCGA novel	772	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	773	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704301 rs759347279	774	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	774	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704300 CA88119860 rs144109367	775	H>Q		No	ClinGen ESP ExAC gnomAD
rs1184025338 CA355530101	775	H>R		No	ClinGen gnomAD
CA2704299 rs769801782	776	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA355530096 rs769801782	776	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1176699537 CA355530091	777	I>L		No	ClinGen gnomAD
rs994033936 CA88119859	778	Y>C		No	ClinGen TOPMed gnomAD
CA2704297 rs139270908	779	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704298 rs748440037	779	I>V		No	ClinGen ExAC TOPMed
CA2704295 rs747369339 COSM1041290	780	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355530049 rs1275503318	781	N>I		No	ClinGen gnomAD
CA2704278 rs768955377	781	N>K		No	ClinGen ExAC gnomAD
TCGA novel	782	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704277 rs762296380	783	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA355530031 rs1347698085	784	F>L		No	ClinGen gnomAD
CA355530023 rs369988293	785	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355530019 rs1232911435	785	I>M		No	ClinGen TOPMed gnomAD
CA2704276 rs369988293	785	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355530007 rs1578207403	787	C>Y		No	ClinGen Ensembl
CA88119573 rs754328606	789	D>A		No	ClinGen Ensembl
rs1560188947 CA355529985	790	D>G		No	ClinGen Ensembl
CA355529987 rs1329710191	790	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2704275 rs146759449	792	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763483179 CA355529964	793	V>E		No	ClinGen ExAC gnomAD
CA2704274 rs763483179	793	V>G		No	ClinGen ExAC gnomAD
rs140049612 CA2704272	797	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2704273 rs143435053	797	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355529934 rs1416261112	798	G>S		No	ClinGen gnomAD
CA2704269 rs540439098	799	D>H		No	ClinGen TOPMed
CA2704270 COSM729090 rs540439098	799	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA355529928 rs540439098	799	D>Y		No	ClinGen TOPMed
rs777103394 CA2704267	800	A>T		No	ClinGen ExAC gnomAD
CA355529916 rs1560188836	801	I>V		No	ClinGen Ensembl
CA355529890 rs1578207190	804	R>S		No	ClinGen Ensembl
CA355529887 rs1425488980	805	I>F		No	ClinGen TOPMed gnomAD
rs1211546544 CA355529867	808	A>T		No	ClinGen gnomAD
CA355529832 rs1393864065	811	E>V		No	ClinGen TOPMed gnomAD
CA88118047 rs950983155	812	N>S		No	ClinGen TOPMed
rs1343881144 CA355529821	813	Q>E		No	ClinGen TOPMed gnomAD
CA355529819 rs1381875524	813	Q>R		No	ClinGen TOPMed
CA355529814 rs1178866606	814	K>Q		No	ClinGen TOPMed gnomAD
CA355529796 rs775829767	816	R>P		No	ClinGen ExAC TOPMed gnomAD
rs775829767 CA2704236	816	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1434314217 CA355529797	816	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs200525060 CA2704235	817	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2704233 rs774873976	818	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA2704232 rs771360680	819	V>A		No	ClinGen ExAC gnomAD
CA355529774 rs1210707468	820	V>A		No	ClinGen gnomAD
rs2287579 CA2704231 VAR_022057	820	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355529765 rs1311919442	822	P>T		No	ClinGen TOPMed
CA2704228 rs747584140	824	L>R		No	ClinGen ExAC gnomAD
rs754650308 CA2704226	826	G>E		No	ClinGen ExAC gnomAD
CA2704227 rs754650308	826	G>V		No	ClinGen ExAC gnomAD
CA2704225 rs746606892	827	F>L		No	ClinGen ExAC gnomAD
rs779830370 CA2704224	827	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2704223 rs141911267	828	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA355529718 COSM1420623 rs1359129927	830	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2704221 rs765062417	832	S>*		No	ClinGen ExAC gnomAD
CA2704220 rs371719444	833	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2704218 rs142188788	834	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764046890 CA2704216	835	G>R		No	ClinGen ExAC TOPMed gnomAD
CA88118045 rs112743930	835	G>V		No	ClinGen Ensembl
CA355529663 rs1486679533	839	L>P		No	ClinGen gnomAD
CA2704215 rs201707612	842	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA88118043 rs998842498	843	M>L		No	ClinGen Ensembl
CA88118042 rs902455230	843	M>T		No	ClinGen Ensembl
CA2704213 rs770237609	844	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs763391264 CA2704214	844	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs200317928 CA2704210	846	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2704212 rs762333916	846	N>S		No	ClinGen ExAC
rs144713245 CA2704209	847	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394972983 CA355529604	848	R>I		No	ClinGen gnomAD
rs368695590 CA2704193	850	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs374756945 CA88117868	853	G>R		No	ClinGen ESP TOPMed gnomAD
CA355529547 rs1293497734	855	N>D		No	ClinGen gnomAD
CA88117867 rs1025544512	859	G>*		No	ClinGen TOPMed
rs186118100 CA2704190	859	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2704189 rs186118100 COSM3846740	859	G>E	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs745473334 CA2704188	860	Q>*		No	ClinGen ExAC gnomAD
rs778583729 CA2704187	860	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs1424329976 CA355529497	863	A>T		No	ClinGen gnomAD
rs112523227 CA88117866	864	E>*		No	ClinGen Ensembl
CA2704185 COSM3695914 rs749248057	865	L>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749248057 CA2704186	865	L>I		No	ClinGen ExAC TOPMed gnomAD
CA355529455 rs1487673182	868	Q>*		No	ClinGen gnomAD
rs769877710 CA2704165	871	N>S		No	ClinGen ExAC gnomAD
CA2704164 rs748042548	872	Y>N		No	ClinGen ExAC gnomAD
rs375020903 CA2704163 RCV001992368	874	S>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2704162 rs758501625	875	F>S		No	ClinGen ExAC gnomAD
CA88115618 rs1005463270	877	G>C		No	ClinGen Ensembl
CA2704161 rs746135602	878	L>R		No	ClinGen ExAC TOPMed gnomAD
CA2704160 rs779173669	880	T>I		No	ClinGen ExAC gnomAD
rs757601703 CA2704159	881	H>L		No	ClinGen ExAC gnomAD
rs754230865 CA2704158	883	E>G		No	ClinGen ExAC gnomAD
CA355529357 rs1400916819	883	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2704157 rs764392524	885	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	886	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756623980 CA2704156	886	G>E		No	ClinGen ExAC gnomAD
CA355529326 rs1275066492	887	N>K		No	ClinGen gnomAD
CA2704153 rs191205035	894	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1468050892 CA355529285	894	Y>H		No	ClinGen gnomAD
CA2704154 rs191205035	894	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	895	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704152 rs773917914	895	V>L		No	ClinGen ExAC gnomAD
CA355529271 rs1474905345	896	H>R		No	ClinGen gnomAD
CA355529264 rs1578118414	897	S>N		No	ClinGen Ensembl
rs1239828518 CA355529260	897	S>R		No	ClinGen gnomAD
rs1560150216 CA355529242	900	L>*		No	ClinGen Ensembl
CA355529219 rs1273644455	903	D>V		No	ClinGen gnomAD
rs1388272166 CA355529215	904	D>N		No	ClinGen TOPMed
CA2704150 rs762649710	905	N>K		No	ClinGen ExAC TOPMed gnomAD
CA355529188 COSM1420621 rs1335091742	908	I>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs773158293 CA2704149	909	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2704130 rs761679464	910	G>A		No	ClinGen ExAC gnomAD
CA355529175 rs1203355714	910	G>R		No	ClinGen gnomAD
rs188797314 CA2704128	914	I>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1166107108 CA355529137	914	I>L		No	ClinGen TOPMed gnomAD
rs188797314 CA2704129	914	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2704127 rs760481255	916	D>E		No	ClinGen ExAC gnomAD
rs774502670 CA2704126	917	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM3204730 CA2704125 rs375638170	917	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs774502670 CA355529118	917	R>S		No	ClinGen ExAC TOPMed gnomAD
rs372573412 CA2704124	918	S>G		No	ClinGen ESP ExAC gnomAD
CA355529090 rs1384056656	921	G>E		No	ClinGen gnomAD
CA2704121 rs528205914 COSM377933	923	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2704120 rs567323716 COSM1420620	923	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA355529071 rs1468952750	924	D>E		No	ClinGen TOPMed
rs144084334 CA2704119	924	D>G		No	ClinGen ESP ExAC gnomAD
CA355529039 rs1195784429	928	A>V		No	ClinGen TOPMed
rs1231367890 CA355529038	929	V>I		No	ClinGen TOPMed
rs962326481 CA88114817	933	D>E		No	ClinGen Ensembl
rs1231594481 CA355529011	933	D>N		No	ClinGen gnomAD
rs779682347 CA2704117	940	V>I		No	ClinGen ExAC TOPMed gnomAD
rs750151950 CA2704115	941	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2704116 rs757968849	941	M>V		No	ClinGen ExAC gnomAD
CA355528950 rs1220377397	942	D>G		No	ClinGen TOPMed gnomAD
CA355528949 rs1220377397	942	D>V		No	ClinGen TOPMed gnomAD
CA2704114 rs764953309	944	K>R		No	ClinGen ExAC gnomAD
CA355528924 rs748414189	946	Y>D		No	ClinGen ExAC gnomAD
rs748414189 CA2704112	946	Y>H		No	ClinGen ExAC gnomAD
rs760664627 CA2704110	948	A>P		No	ClinGen ExAC gnomAD
rs760664627 CA355528910	948	A>T		No	ClinGen ExAC gnomAD
CA88114816 rs200999021	949	G>A		No	ClinGen 1000Genomes gnomAD
CA2704108 rs372434028	950	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373695779 CA2704109	950	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000930677 rs536513156 CA2704107	951	F>Y		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA355528885 rs1324906277	952	A>V		No	ClinGen TOPMed
rs770028037 CA2704105	953	R>*		No	ClinGen ExAC TOPMed gnomAD
rs770028037 CA2704106	953	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2704104 rs370474045	953	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1009986191 CA11525587	954	G>V		No	ClinGen TOPMed gnomAD
rs376692638 CA2704103	955	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs184113386 CA2704101	956	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1693808 rs768898754 CA2704102	956	R>W	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355528862 rs1283160989	958	Q>*		No	ClinGen TOPMed gnomAD
rs780686076 CA2704100	958	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1211746844 CA355528851	959	C>*		No	ClinGen TOPMed
rs1578099921 CA355528855	959	C>G		No	ClinGen Ensembl
rs1197277897 CA355528854	959	C>Y		No	ClinGen gnomAD
CA355528823 rs1560137143	961	R>S		No	ClinGen Ensembl
rs1247306250 CA355528821	962	V>F		No	ClinGen gnomAD
rs557980910 CA2704066	964	L>F		No	ClinGen ExAC TOPMed gnomAD
CA355528799 rs1171890318	965	G>V		No	ClinGen TOPMed
CA355528795 rs1560137106	966	Y>S		No	ClinGen Ensembl
CA2704065 rs764255245	968	D>N		No	ClinGen ExAC gnomAD
rs911607180 CA88114119	974	I>T		No	ClinGen TOPMed
rs1297818796 CA355528730	975	Q>P		No	ClinGen gnomAD
CA355528715 rs1460712521	977	P>T		No	ClinGen gnomAD
rs760900711 CA355528699	979	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1164341253 CA355528677	982	F>S		No	ClinGen gnomAD
CA355528672 rs1443876931	983	F>L		No	ClinGen gnomAD
rs776008713 CA2704063	984	K>R		No	ClinGen ExAC gnomAD
CA2704062 rs772497772	986	V>A		No	ClinGen ExAC TOPMed
TCGA novel	986	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249622949 CA355528641	987	W>*		No	ClinGen gnomAD
rs878865070 CA88114117	988	V>F		No	ClinGen Ensembl
CA2704059 rs774982129	990	T>A		No	ClinGen ExAC TOPMed gnomAD
CA355528617 rs1217197851	991	A>E		No	ClinGen TOPMed
rs748714447 CA2704057	993	R>*		No	ClinGen ExAC gnomAD
rs777294540 CA2704056	993	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2704053 rs747734768	996	T>A		No	ClinGen ExAC gnomAD
CA2704052 rs781035142	996	T>I		No	ClinGen ExAC TOPMed gnomAD
CA355528588 rs781035142	996	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1306800249 CA355528560	1000	K>T		No	ClinGen gnomAD
CA355528544 rs1320408193	1001	V>I		No	ClinGen gnomAD
rs779851911 COSM1537101 CA2704032	1003	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs746839761 CA2704033	1003	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2704030 rs750307771	1006	P>L		No	ClinGen ExAC gnomAD
rs919812002 CA355528508	1007	N>D		No	ClinGen TOPMed
rs919812002 CA88113922	1007	N>H		No	ClinGen TOPMed
rs150081734 CA2704028	1007	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1175250035 CA355528492	1009	E>K		No	ClinGen gnomAD
CA2704026 rs753012433	1011	H>Y		No	ClinGen ExAC gnomAD
CA355528453 rs1228657000	1014	I>S		No	ClinGen TOPMed
CA88113920 rs904395691	1015	Q>H		No	ClinGen Ensembl
rs1448034812 CA355528450	1015	Q>K		No	ClinGen gnomAD
rs759788766 CA355528444	1016	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1018	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140678011 CA2704023	1018	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355528401 rs1223097418	1022	K>E		No	ClinGen TOPMed gnomAD
rs1321709353 CA355528395	1022	K>N		No	ClinGen gnomAD
VAR_051703 rs9827333 CA2704019 RCV000880218	1024	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355528382 rs1454573682	1025	L>I		No	ClinGen gnomAD
rs1406515779 CA355528376	1026	A>P		No	ClinGen gnomAD
rs1257006275 CA355528369	1027	K>E		No	ClinGen TOPMed
rs944731543 CA355528346	1030	P>A		No	ClinGen gnomAD
CA88113918 rs944731543	1030	P>S		No	ClinGen gnomAD
rs1167922074 CA355528341	1031	I>L		No	ClinGen TOPMed gnomAD
rs1167922074 CA355528340	1031	I>V		No	ClinGen TOPMed gnomAD
rs746291174 CA2704016	1032	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2704015 rs182960718	1032	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2704013 rs775151121	1033	A>P		No	ClinGen ExAC gnomAD
CA2704014 rs775151121	1033	A>T		No	ClinGen ExAC gnomAD
rs1203454120 CA355528283	1039	K>N		No	ClinGen gnomAD
CA355528276 rs1460102004	1040	I>M		No	ClinGen gnomAD
rs1370637728 CA355528278	1040	I>T		No	ClinGen TOPMed
rs1275391238 CA355528275	1041	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355528273 rs1275391238	1041	R>G		No	ClinGen TOPMed gnomAD
rs778886885 CA2704010	1041	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355528274 rs1275391238	1041	R>S		No	ClinGen TOPMed gnomAD
CA2704009 rs756297631	1042	G>E		No	ClinGen ExAC gnomAD
CA355528266 rs756297631	1042	G>V		No	ClinGen ExAC gnomAD
CA88113917 rs983568903	1043	F>L		No	ClinGen Ensembl
rs550159065 CA88113916	1045	V>A		No	ClinGen 1000Genomes TOPMed
rs550159065 CA355528248	1045	V>G		No	ClinGen 1000Genomes TOPMed
CA2704008 rs140343065	1045	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA88113915 rs760611635	1046	Q>E		No	ClinGen Ensembl
TCGA novel	1046	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2704007 rs544189603	1047	F>L		No	ClinGen ExAC TOPMed gnomAD
rs755261762 CA2704006	1048	P>L		No	ClinGen ExAC gnomAD
CA355528215 rs1356128276	1050	Y>F		No	ClinGen gnomAD
TCGA novel	1051	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88113914 rs979374979	1057	L>Q		No	ClinGen TOPMed
rs758772146 CA2704003	1058	L>Q		No	ClinGen ExAC gnomAD
rs1232170034 CA355528156	1059	P>R		No	ClinGen TOPMed
rs370937521 CA2704002	1059	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA88113913 rs376459861	1060	S>F		No	ClinGen ESP TOPMed gnomAD
COSM173177 TCGA novel CA355528151 rs376459861	1060	S>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA ESP TOPMed gnomAD
rs762260694 CA2704000	1063	T>S		No	ClinGen ExAC gnomAD
CA355528120 rs1560134959	1065	E>G		No	ClinGen Ensembl
CA88113912 rs570930487	1066	A>D		No	ClinGen 1000Genomes gnomAD
rs372390752 CA2703999	1066	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355528113 rs570930487	1066	A>V		No	ClinGen 1000Genomes gnomAD
CA355528109 rs1437505110	1067	I>R		No	ClinGen gnomAD
CA355528111 rs1560134925	1067	I>V		No	ClinGen Ensembl
rs1303758360 CA355528095	1069	P>L		No	ClinGen Ensembl
rs763525949 CA2703998	1069	P>S		No	ClinGen ExAC gnomAD
rs775193751 CA2703996	1070	M>V		No	ClinGen ExAC gnomAD
TCGA novel	1073	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355528072 rs1290937366	1073	W>R		No	ClinGen gnomAD
CA2703995 rs771811290	1074	T>A		No	ClinGen ExAC gnomAD
rs1467944467 CA355528055	1075	T>S		No	ClinGen Ensembl

1 associated diseases with Q13393

[MIM: 212093]: Cardiac valvular defect, developmental (CVDD)

An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves. {ECO:0000269|PubMed:27799408}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves. {ECO:0000269|PubMed:27799408}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q13393

Type	Name	Position	InterPro Accession
domain	Phox homology	79 - 212	IPR001683
domain	Phospholipase D/Transphosphatidylase	459 - 486	IPR001736-1
domain	Phospholipase D/Transphosphatidylase	891 - 918	IPR001736-2
domain	Pleckstrin homology domain	220 - 330	IPR001849
domain	Phospholipase D-like domain	767 - 936	IPR025202

Functions

		Description
EC Number	3.1.4.4	Phosphoric diester hydrolases
Subcellular Localization	Cytoplasm, perinuclear region Endoplasmic reticulum membrane ; Lipid-anchor ; Cytoplasmic side Golgi apparatus membrane ; Lipid-anchor ; Cytoplasmic side Late endosome membrane ; Lipid-anchor ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

15 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cholinergic synapse	A synapse that uses acetylcholine as a neurotransmitter.
endocytic vesicle	A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
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.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
late endosome membrane	The lipid bilayer surrounding a late endosome.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
specific granule membrane	The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.
tertiary granule membrane	The lipid bilayer surrounding a tertiary granule.

3 GO annotations of molecular function

Name	Definition
N-acylphosphatidylethanolamine-specific phospholipase D activity	Catalysis of the release of N-acylethanolamine from N-acyl-phosphatidylethanolamine (NAPE) to generate N-acylethanolamine (NAE).
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phospholipase D activity	Catalysis of the reaction: a phosphatidylcholine + H2O = choline + a phosphatidate.

10 GO annotations of biological process

Name	Definition
chemotaxis	The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
inositol lipid-mediated signaling	The series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids.
phosphatidic acid biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids.
phospholipid catabolic process	The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of microvillus assembly	A process that modulates the formation of a microvillus.
regulation of synaptic vesicle cycle	Any process that modulates the frequency, rate or extent of the synaptic vesicle cycle.
regulation of vesicle-mediated transport	Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0V8L6	PLD2	Phospholipase D2	Bos taurus (Bovine)	PR
O14939	PLD2	Phospholipase D2	Homo sapiens (Human)	PR
P97813	Pld2	Phospholipase D2	Mus musculus (Mouse)	PR
Q9Z280	Pld1	Phospholipase D1	Mus musculus (Mouse)	PR
P70498	Pld2	Phospholipase D2	Rattus norvegicus (Rat)	PR
P70496	Pld1	Phospholipase D1	Rattus norvegicus (Rat)	PR
P58766	PLDALPHA3	Phospholipase D alpha 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M9W8	PLPZETA2	Phospholipase D zeta 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LRZ5	PLDZETA1	Phospholipase D zeta 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C5Y0	PLDDELTA	Phospholipase D delta	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSLKNEPRVN	TSALQKIAAD	MSNIIENLDT	RELHFEGEEV	DYDVSPSDPK	IQEVYIPFSA
70	80	90	100	110	120
IYNTQGFKEP	NIQTYLSGCP	IKAQVLEVER	FTSTTRVPSI	NLYTIELTHG	EFKWQVKRKF
130	140	150	160	170	180
KHFQEFHREL	LKYKAFIRIP	IPTRRHTFRR	QNVREEPREM	PSLPRSSENM	IREEQFLGRR
190	200	210	220	230	240
KQLEDYLTKI	LKMPMYRNYH	ATTEFLDISQ	LSFIHDLGPK	GIEGMIMKRS	GGHRIPGLNC
250	260	270	280	290	300
CGQGRACYRW	SKRWLIVKDS	FLLYMKPDSG	AIAFVLLVDK	EFKIKVGKKE	TETKYGIRID
310	320	330	340	350	360
NLSRTLILKC	NSYRHARWWG	GAIEEFIQKH	GTNFLKDHRF	GSYAAIQENA	LAKWYVNAKG
370	380	390	400	410	420
YFEDVANAME	EANEEIFITD	WWLSPEIFLK	RPVVEGNRWR	LDCILKRKAQ	QGVRIFIMLY
430	440	450	460	470	480
KEVELALGIN	SEYTKRTLMR	LHPNIKVMRH	PDHVSSTVYL	WAHHEKLVII	DQSVAFVGGI
490	500	510	520	530	540
DLAYGRWDDN	EHRLTDVGSV	KRVTSGPSLG	SLPPAAMESM	ESLRLKDKNE	PVQNLPIQKS
550	560	570	580	590	600
IDDVDSKLKG	IGKPRKFSKF	SLYKQLHRHH	LHDADSISSI	DSTSSYFNHY	RSHHNLIHGL
610	620	630	640	650	660
KPHFKLFHPS	SESEQGLTRP	HADTGSIRSL	QTGVGELHGE	TRFWHGKDYC	NFVFKDWVQL
670	680	690	700	710	720
DKPFADFIDR	YSTPRMPWHD	IASAVHGKAA	RDVARHFIQR	WNFTKIMKSK	YRSLSYPFLL
730	740	750	760	770	780
PKSQTTAHEL	RYQVPGSVHA	NVQLLRSAAD	WSAGIKYHEE	SIHAAYVHVI	ENSRHYIYIE
790	800	810	820	830	840
NQFFISCADD	KVVFNKIGDA	IAQRILKAHR	ENQKYRVYVV	IPLLPGFEGD	ISTGGGNALQ
850	860	870	880	890	900
AIMHFNYRTM	CRGENSILGQ	LKAELGNQWI	NYISFCGLRT	HAELEGNLVT	ELIYVHSKLL
910	920	930	940	950	960
IADDNTVIIG	SANINDRSML	GKRDSEMAVI	VQDTETVPSV	MDGKEYQAGR	FARGLRLQCF
970	980	990	1000	1010	1020
RVVLGYLDDP	SEDIQDPVSD	KFFKEVWVST	AARNATIYDK	VFRCLPNDEV	HNLIQLRDFI
1030	1040	1050	1060	1070
NKPVLAKEDP	IRAEEELKKI	RGFLVQFPFY	FLSEESLLPS	VGTKEAIVPM	EVWT