AiPD: Autoinhibited Protein Database

Q15811

EV SS

Gene name	ITSN1 (ITSN, SH3D1A)
Protein name	Intersectin-1
Names	SH3 domain-containing protein 1A , SH3P17
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6453
EC number
Protein Class	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR AT 64C, ISOFORM A (PTHR46006)

Descriptions

Intersectin 1 is a guanine nucleotide exchange factor (GEF) protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. The GEF activity of Intersectin 1 is mediated by its short SH3-DH domain linker, rather than by its SH3 domains. The specific amino acid W1221 within this linker is a key residue for establishing the inhibitory interaction. This mechanism serves to prevent the unregulated activation of the GEF, thereby conserving cellular resources and ensuring precise control of downstream signaling pathways. As SH3 domains are not involved in the autoinhibition, the interaction with the proline-rich region of N-WASP is unable to release the autoinhibition. Although the mechanism by which the autoinhibition is relieved remains unidentified, the activity of Intersectin 1 may be alleviated by transient interactions with binding partners that could mask W1221.

Autoinhibitory domains (AIDs)

Target domain	1229-1577 (DH-PH domains)
Relief mechanism	Partner binding
Assay	Structural analysis, Mutagenesis experiment

AID

1215-1228 (SH3-DH domain linker)

Target domain

1229-1577 (DH-PH domains)

Relief mechanism

Partner binding (Maybe interaction with binding partners that could mask W1221)

Assay

Structural analysis, Mutagenesis experiment

721-740 (N-terminal linker of SH3A) SS

Target domain	741-803 (SH3A domain)
Relief mechanism
Assay

AID

721-740 (N-terminal linker of SH3A)

Target domain

741-803 (SH3A domain)

Relief mechanism

Assay

804-840 (C-terminal linker of SH3A) SS

Target domain	741-803 (SH3A domain)
Relief mechanism	PTM
Assay

AID

804-840 (C-terminal linker of SH3A)

Target domain

741-803 (SH3A domain)

Relief mechanism

PTM (Phosphorylation of C-terminal motif)

Assay

1158-1210 (SH3E domain) SS

Target domain	1237-1423 (DH domain)
Relief mechanism	Partner binding, Ligand binding
Assay

AID

1158-1210 (SH3E domain)

Target domain

1237-1423 (DH domain)

Relief mechanism

Partner binding, Ligand binding

Assay

Accessory elements

No accessory elements

References

Kintscher C et al. (2010) "Autoinhibition of GEF activity in Intersectin 1 is mediated by the short SH3-DH domain linker", Protein science : a publication of the Protein Society, 19, 2164-74

Gerth F et al. (2019) "Exon Inclusion Modulates Conformational Plasticity and Autoinhibition of the Intersectin 1 SH3A Domain", Structure (London, England : 1993), 27, 977-987.e5

Ahmad KF et al. (2010) "The minimal autoinhibited unit of the guanine nucleotide exchange factor intersectin", PloS one, 5, e11291

Murayama K et al. (2007) "Crystal structure of the rac activator, Asef, reveals its autoinhibitory mechanism", The Journal of biological chemistry, 282, 4238-4242

Autoinhibited structure

Activated structure

12 structures for Q15811

Entry ID	Method	Resolution	Chain	Position	Source
1KI1	X-ray	230 A	B/D	1229-1581	PDB
2KGR	NMR	-	A	210-312	PDB
2KHN	NMR	-	A	1-111	PDB
3FIA	X-ray	145 A	A	1-111	PDB
3QBV	X-ray	265 A	B/D	1229-1579	PDB
4IIM	X-ray	180 A	A/B	916-970	PDB
5HZI	X-ray	260 A	A/B	1230-1580	PDB
5HZJ	X-ray	260 A	A/B	1230-1580	PDB
5HZK	X-ray	330 A	B/D	1230-1580	PDB
6GBU	X-ray	344 A	B/D/F/H	1074-1138	PDB
6H5T	X-ray	169 A	A/B	741-840	PDB
AF-Q15811-F1	Predicted				AlphaFoldDB

1465 variants for Q15811

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2067451408 RCV001823688	119	G>D	Nephrotic syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs763242335 RCV001266623	731	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs755276554 RCV000210640 CA358132	743	V>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1219309908	4	F>L		No	TOPMed gnomAD
rs959806083	5	P>L		No	TOPMed
rs1277069165 COSM1211181	6	T>A	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs868634156	6	T>I		No	gnomAD
rs1484793420	7	P>H		No	gnomAD
rs770736261	8	F>Y		No	ExAC gnomAD
COSM71227	9	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs143930451	9	G>S		No	ESP ExAC TOPMed gnomAD
rs376954232	10	G>D		No	ESP ExAC gnomAD
rs1393630174	13	D>A		No	TOPMed gnomAD
rs2065461362	14	I>T		No	Ensembl
rs748576165	17	I>V		No	ExAC TOPMed gnomAD
rs939799478	19	V>I		No	TOPMed
rs2065461852	20	E>K		No	Ensembl
COSM1030395 rs201302056	23	A>V	Variant assessed as Somatic; MODERATE impact. endometrium bone [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1345761302	26	D>E		No	gnomAD
rs541450123	26	D>H		No	1000Genomes ExAC gnomAD
rs774349088	28	Q>K		No	ExAC gnomAD
rs1369976412	30	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs772037712	31	S>I		No	ExAC gnomAD
TCGA novel	32	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2065463452	34	P>S		No	TOPMed
rs919617743	35	I>M		No	TOPMed gnomAD
rs760484132	35	I>V		No	ExAC TOPMed gnomAD
rs2065463683	40	T>A		No	Ensembl
rs1273294608	42	D>E		No	gnomAD
rs563383929	43	Q>R		No	gnomAD
rs2065566437	44	A>T		No	Ensembl
rs776357486	46	N>D		No	ExAC gnomAD
COSM1030396	48	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1283492787	50	Q>*		No	Ensembl
rs764851463	50	Q>L		No	ExAC gnomAD
rs746959118	50	Q>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs746959118	50	Q>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1189528805	51	S>F		No	gnomAD
rs1601839500	51	S>P		No	Ensembl
rs1371201178	52	G>E		No	gnomAD
rs1371201178	52	G>V		No	gnomAD
COSM3550423 COSM3550422 COSM3550424	53	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1601839586	53	L>S		No	Ensembl
rs1168244844	54	P>L		No	gnomAD
rs2065568623	54	P>S		No	Ensembl
rs1371448009	56	P>S		No	gnomAD
TCGA novel	57	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1311201242	58	L>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs756633876	62	W>*		No	ExAC TOPMed gnomAD
rs753267635	62	W>R		No	ExAC gnomAD
rs866433980	63	A>T		No	Ensembl
rs762114380	65	A>T		No	ExAC TOPMed gnomAD
rs1343660916	66	D>N		No	TOPMed
rs765375043	67	M>L		No	ExAC TOPMed gnomAD
rs765375043	67	M>V		No	ExAC TOPMed gnomAD
rs1569054625	68	N>S		No	TOPMed gnomAD
rs1337321604	72	R>G		No	TOPMed
rs750655480	72	R>K		No	ExAC TOPMed gnomAD
rs754272885	76	V>M		No	TOPMed gnomAD
rs758689244	80	I>L		No	ExAC TOPMed gnomAD
rs758689244 COSM4134905 COSM4134906 COSM4134904	80	I>V	thyroid [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
TCGA novel	81	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754899386	85	I>T		No	ExAC TOPMed gnomAD
rs1433950863	86	K>R		No	TOPMed gnomAD
rs1433950863	86	K>T		No	TOPMed gnomAD
rs2066418190	90	Q>K		No	Ensembl
rs983870457	92	Y>C		No	TOPMed gnomAD
rs1403248326	93	Q>H		No	TOPMed
rs1372506949	99	P>H		No	TOPMed gnomAD
TCGA novel rs769493415	100	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA ExAC TOPMed gnomAD
rs1569054925	100	P>S		No	TOPMed gnomAD
rs748942101	104	Q>R		No	ExAC gnomAD
rs2147258849	105	Q>*		No	Ensembl
rs770743433	106	P>T		No	ExAC gnomAD
rs1388138645	107	V>F		No	TOPMed gnomAD
rs1388138645	107	V>I		No	TOPMed gnomAD
rs2066420653	109	I>F		No	TOPMed
rs769166042	109	I>M		No	ExAC gnomAD
rs1051601977	110	S>P		No	Ensembl
rs777007166	111	S>C		No	ExAC gnomAD
rs201039916 COSM1413910	112	A>T	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM224071 rs1332542126	113	P>S	skin [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1332542126	113	P>T		No	TOPMed gnomAD
rs570083738	116	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs1436937696	116	G>V		No	gnomAD
rs936959859	117	M>L		No	TOPMed gnomAD
rs778568026	117	M>T		No	ExAC gnomAD
rs936959859	117	M>V		No	TOPMed gnomAD
rs2067451138	118	G>E		No	TOPMed
rs2067451408	119	G>V		No	Ensembl
rs150191551	121	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs150191551	121	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200423943	125	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs200423943	125	P>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1314522112	125	P>T		No	gnomAD
rs773716558	126	L>F		No	ExAC TOPMed gnomAD
rs749601675	127	T>I		No	ExAC gnomAD
rs749601675	127	T>R		No	ExAC gnomAD
rs1465823122	128	A>S		No	TOPMed gnomAD
rs1465823122	128	A>T		No	TOPMed gnomAD
rs1161914635	129	V>I		No	TOPMed gnomAD
rs771275208	130	A>G		No	ExAC TOPMed gnomAD
rs771275208	130	A>V		No	ExAC TOPMed gnomAD
rs767827917	132	V>L		No	ExAC gnomAD
rs767827917	132	V>M		No	ExAC gnomAD
rs2067455620	133	P>L		No	TOPMed
rs775378886	133	P>S		No	ExAC gnomAD
rs113818794	134	M>K		No	Ensembl
rs113818794	134	M>T		No	Ensembl
rs372092044	134	M>V		No	ESP ExAC TOPMed gnomAD
rs2147467504	135	G>E		No	Ensembl
rs1425676660	137	I>V		No	TOPMed gnomAD
rs2067456852	138	P>L		No	TOPMed
COSM1030398	138	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs199546978	139	V>F		No	1000Genomes ExAC gnomAD
rs1458649658	141	G>R		No	gnomAD
rs901616099	142	M>I		No	Ensembl
rs2067457754	142	M>T		No	Ensembl
rs1465413447	143	S>C		No	TOPMed gnomAD
rs2067458492	145	T>I		No	Ensembl
rs375382856	147	V>I		No	ESP ExAC TOPMed gnomAD
COSM3841825 COSM3841823 COSM3841824	148	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1269793562	148	S>F		No	TOPMed gnomAD
rs528600328	150	V>I		No	1000Genomes ExAC gnomAD
TCGA novel	151	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1315404273 COSM365784	151	P>S	lung [Cosmic]	No	cosmic curated Ensembl
rs2067459859	152	T>I		No	Ensembl
rs1328376656	153	A>T		No	TOPMed
rs1428416450	154	A>S		No	TOPMed gnomAD
rs899089428	155	V>M		No	TOPMed
rs757940900	156	P>H		No	ExAC TOPMed gnomAD
rs757940900	156	P>L		No	ExAC TOPMed gnomAD
rs757940900	156	P>R		No	ExAC TOPMed gnomAD
rs1340587657 COSM3550425 COSM3550426 COSM3550427	156	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs754500876	157	P>A		No	ExAC TOPMed gnomAD
rs749794095	157	P>R		No	ExAC TOPMed gnomAD
rs754500876	157	P>S		No	ExAC TOPMed gnomAD
rs754500876	157	P>T		No	ExAC TOPMed gnomAD
rs751926247 COSM4336855 COSM1413911 COSM4336854	158	L>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs2067461709	158	L>V		No	TOPMed gnomAD
COSM2844089 COSM4336857 COSM4336856	158	L>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3748765 rs2147468763 COSM3748763	159	A>T	stomach [Cosmic]	No	cosmic curated Ensembl
rs775859329	161	G>R		No	ExAC TOPMed gnomAD
rs768841848	162	A>S		No	ExAC gnomAD
rs776915893	163	P>L		No	ExAC gnomAD
rs1569093972	163	P>S		No	Ensembl
rs2067462810	164	P>A		No	Ensembl
rs1412673800	164	P>R		No	gnomAD
rs2067463387	165	V>A		No	gnomAD
rs1443009054	166	I>K		No	TOPMed
rs1473521662	166	I>M		No	TOPMed gnomAD
rs1443009054	166	I>T		No	TOPMed
rs2067463775	167	Q>*		No	TOPMed
rs765244876	167	Q>H		No	ExAC TOPMed gnomAD
rs750145035	168	P>S		No	ExAC TOPMed gnomAD
COSM1495183	169	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765893804	171	A>P		No	ExAC TOPMed gnomAD
rs765893804	171	A>S		No	ExAC TOPMed gnomAD
rs1361246792	171	A>V		No	TOPMed gnomAD
rs2067464746	173	A>V		No	gnomAD
rs754695322	174	H>R		No	ExAC TOPMed gnomAD
rs1448746913	177	A>T		No	TOPMed
rs1569097820	178	T>A		No	Ensembl
rs2067575768	180	P>Q		No	TOPMed
rs981518055	181	K>E		No	TOPMed gnomAD
rs981518055	181	K>Q		No	TOPMed gnomAD
rs369810887	183	S>F		No	ESP ExAC TOPMed gnomAD
rs2067576579	184	S>F		No	gnomAD
rs2067576805	186	S>R		No	TOPMed
rs1227209877	187	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2067577281	188	S>A		No	Ensembl
COSM1030400 rs2067577489	188	S>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1274827765	189	G>A		No	gnomAD
rs2067577915	191	G>R		No	TOPMed gnomAD
rs750927643	192	S>L		No	ExAC gnomAD
rs780534584	193	Q>R		No	ExAC TOPMed gnomAD
rs1348764255	195	N>S		No	TOPMed
rs2067579238	196	T>A		No	Ensembl
rs544678761	197	K>R		No	1000Genomes ExAC gnomAD
COSM6094709 COSM6094708 COSM6094707	197	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1485863696	198	L>*		No	gnomAD
rs1192284766	199	Q>R		No	gnomAD
rs2147493678	201	A>E		No	Ensembl
TCGA novel	201	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1317465702	201	A>T		No	TOPMed
rs769907006	204	F>L		No	ExAC
rs773234531	206	V>A		No	ExAC TOPMed gnomAD
rs749222997	207	A>G		No	ExAC TOPMed gnomAD
rs2067581481	207	A>S		No	Ensembl
rs749222997	207	A>V		No	ExAC TOPMed gnomAD
rs2067581834	208	S>C		No	TOPMed gnomAD
rs2067581834	208	S>G		No	TOPMed gnomAD
rs770811360	209	V>I		No	ExAC gnomAD
rs774273932	210	P>L		No	ExAC TOPMed gnomAD
rs1218525115	210	P>S		No	TOPMed gnomAD
rs1266197843	211	P>S		No	gnomAD
rs1040815582	213	A>V		No	Ensembl
rs546895300	214	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs1269773434	216	A>S		No	gnomAD
rs1013208908	217	V>I		No	gnomAD
rs1013208908	217	V>L		No	gnomAD
rs897818273	218	P>S		No	gnomAD
rs1343517714	222	R>K		No	gnomAD
rs1266877010	223	L>R		No	TOPMed gnomAD
TCGA novel	225	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2067834828	226	R>S		No	Ensembl
rs1294147621	230	N>D		No	TOPMed gnomAD
rs1288719261	232	H>Q		No	gnomAD
rs1201034876	232	H>R		No	gnomAD
rs1410446903	233	D>E		No	gnomAD
rs2067835731	235	T>S		No	Ensembl
rs1414453227	236	M>I		No	TOPMed
rs775212836	237	S>T		No	ExAC gnomAD
rs1391281976	238	G>R		No	gnomAD
rs747001526	239	H>Y		No	TOPMed gnomAD
rs1344557389	241	T>A		No	TOPMed
rs1489993661	243	P>R		No	TOPMed gnomAD
rs768289000	243	P>S		No	ExAC TOPMed gnomAD
rs761617958	246	R>G		No	ExAC gnomAD
rs1227567678	246	R>T		No	gnomAD
rs562662000	247	T>A		No	TOPMed
rs769426337	247	T>N		No	ExAC TOPMed gnomAD
rs772892155	248	I>V		No	ExAC TOPMed gnomAD
rs200049832	251	Q>H		No	1000Genomes ExAC gnomAD
rs1199209058	251	Q>R		No	gnomAD
rs1341559336	255	P>L		No	gnomAD
rs767936019	256	Q>P		No	ExAC TOPMed gnomAD
rs1325623468	257	A>G		No	TOPMed
TCGA novel	257	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2068364021	258	Q>R		No	gnomAD
rs558812785	262	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs772559655	264	N>S		No	ExAC TOPMed gnomAD
COSM3550428 COSM3550429 COSM3550430	265	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2068689186	266	S>Y		No	TOPMed
rs2068689412	268	I>V		No	TOPMed gnomAD
TCGA novel	270	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs775871104	270	Q>R		No	ExAC TOPMed gnomAD
rs2068690156	271	D>E		No	gnomAD
rs761300104	271	D>G		No	ExAC TOPMed
TCGA novel	273	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	274	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754239354	275	T>I		No	ExAC TOPMed gnomAD
rs1364810311	276	A>P		No	gnomAD
rs1436084537	280	I>T		No	TOPMed gnomAD
rs2068691235	282	A>T		No	Ensembl
COSM1030402	283	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765466442	283	M>R		No	ExAC gnomAD
rs2068691733	283	M>V		No	Ensembl
rs1602100643	284	H>P		No	Ensembl
rs1602100643	284	H>R		No	Ensembl
rs2068692502	285	L>V		No	TOPMed
rs1006326896	287	D>E		No	TOPMed gnomAD
rs1326230839	288	V>I		No	gnomAD
rs920377572	290	M>I		No	gnomAD
rs1602100784	292	G>D		No	Ensembl
rs2068693823	292	G>R		No	Ensembl
rs1569131960	296	P>L		No	Ensembl
rs766538916	296	P>S		No	ExAC TOPMed gnomAD
rs1244562242	301	P>L		No	TOPMed gnomAD
rs747981470	302	E>A		No	ExAC TOPMed gnomAD
rs747981470	302	E>G		No	ExAC TOPMed gnomAD
rs367655089	302	E>K		No	ESP ExAC TOPMed gnomAD
rs747981470	302	E>V		No	ExAC TOPMed gnomAD
rs1471561364	307	S>C		No	gnomAD
rs2068696469	307	S>P		No	TOPMed
rs755791159	309	R>K		No	ExAC gnomAD
rs756971499	311	V>A		No	ExAC gnomAD
COSM3550431 COSM175181 COSM3550432 rs1355286586	312	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1355286586	312	R>G		No	gnomAD
COSM1211179 rs778262651	312	R>Q	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs376858445	313	S>A		No	ESP ExAC TOPMed gnomAD
rs376858445	313	S>P		No	ESP ExAC TOPMed gnomAD
rs1203759115	315	S>I		No	gnomAD
rs769110337	316	G>D		No	ExAC TOPMed gnomAD
rs2068828702	317	I>T		No	TOPMed gnomAD
rs368797638	317	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs773608079	323	T>A		No	ExAC TOPMed gnomAD
rs773608079	323	T>S		No	ExAC TOPMed gnomAD
rs1387263667	324	S>C		No	gnomAD
rs1387263667	324	S>F		No	gnomAD
rs763065231	325	V>I		No	ExAC TOPMed gnomAD
rs1312208229	326	D>G		No	TOPMed
rs766649165	326	D>Y		No	ExAC gnomAD
rs1412126844	327	Q>E		No	gnomAD
rs1332693153	328	R>K		No	TOPMed gnomAD
rs1453770414	330	P>T		No	TOPMed gnomAD
rs2068831463	331	E>G		No	TOPMed gnomAD
rs1362538275	332	E>K		No	gnomAD
rs2068832327	333	P>Q		No	Ensembl
rs759669553	333	P>S		No	ExAC TOPMed gnomAD
rs759669553	333	P>T		No	ExAC TOPMed gnomAD
TCGA novel	334	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752664591	334	V>I		No	ExAC gnomAD
rs967588148	338	E>V		No	TOPMed
rs1184959164	339	Q>R		No	gnomAD
COSM3423929 COSM3423930 COSM3423928	344	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760758707	346	L>S		No	ExAC gnomAD
TCGA novel	347	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	347	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2068833447	347	P>R		No	TOPMed
rs2069206864	349	T>A		No	TOPMed
rs1408030128	352	D>G		No	TOPMed gnomAD
rs2147786663	354	K>E		No	Ensembl
COSM4295812 COSM4295811 rs920288267 COSM1030403	360	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs770995793	360	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs770995793	360	R>L		No	ExAC gnomAD
rs1265992809	361	G>C		No	gnomAD
rs779765019	366	E>K		No	ExAC TOPMed gnomAD
rs749185030	367	K>R		No	ExAC TOPMed gnomAD
rs775749120 COSM1030404	368	R>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC gnomAD
rs980737897	371	A>T		No	Ensembl
TCGA novel	372	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	374	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1196805274	375	Q>L		No	gnomAD
rs147000769	376	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA gnomAD
rs764147892	377	R>C		No	ExAC TOPMed gnomAD
rs768597698	377	R>H		No	ExAC TOPMed gnomAD
rs768597698 COSM334348	377	R>L	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM725237	381	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2069212919	381	E>Q		No	Ensembl
rs764739038 COSM329433	382	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs750087030 COSM261471	382	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750087030	382	R>L		No	ExAC TOPMed gnomAD
rs1449015629	383	L>M		No	gnomAD
rs143580796	386	L>V		No	ESP TOPMed gnomAD
rs375451100	387	E>D		No	ESP ExAC TOPMed gnomAD
rs200196886	388	R>Q		No	ExAC TOPMed gnomAD
rs1384612670	388	R>W		No	1000Genomes gnomAD
rs544261869	389	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1569145903	390	E>A		No	Ensembl
rs2069216311	390	E>D		No	TOPMed
rs771317373	392	E>K		No	ExAC TOPMed gnomAD
rs2069217100	395	E>K		No	TOPMed
rs1261569452	396	R>C		No	TOPMed gnomAD
rs779207769	396	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs779207769	396	R>L		No	ExAC TOPMed gnomAD
rs772469526	398	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs533840234	398	R>H		No	ExAC TOPMed gnomAD
rs533840234	398	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1250189865	399	Q>E		No	gnomAD
rs2069218867	400	E>K		No	Ensembl
rs2069219379	401	Q>E		No	gnomAD
rs2069219680	401	Q>R		No	TOPMed
rs768410170	402	E>D		No	ExAC TOPMed gnomAD
rs2069220383	403	R>C		No	TOPMed
rs776643469	403	R>H		No	ExAC TOPMed gnomAD
rs776643469	403	R>L		No	ExAC TOPMed gnomAD
TCGA novel	404	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs945492858	404	K>R		No	Ensembl
rs201073854	406	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs1569146163 RCV000678374	408	E>*		No	ClinVar Ensembl dbSNP
rs1442707240	412	Q>R		No	gnomAD
rs2069223081	414	E>K		No	TOPMed
rs762545126	415	K>Q		No	ExAC
rs766054300	416	Q>E		No	ExAC TOPMed gnomAD
rs777736654	417	R>Q		No	ExAC TOPMed gnomAD
COSM282031 rs751006736	417	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766997437	419	L>I		No	ExAC gnomAD
rs2147788557 RCV001579322	420	E>*		No	ClinVar Ensembl dbSNP
rs2069225498	421	R>Q		No	gnomAD
rs1308860031	421	R>W		No	TOPMed gnomAD
rs373488298	425	E>A		No	ESP ExAC TOPMed gnomAD
rs754360446	425	E>K		No	ExAC TOPMed gnomAD
rs754360446	425	E>Q		No	ExAC TOPMed gnomAD
rs2069226515	427	R>K		No	TOPMed
rs1226317955	428	R>G		No	TOPMed gnomAD
rs903875641	428	R>K		No	Ensembl
rs1291243061	429	K>R		No	gnomAD
rs2069227826	431	I>V		No	TOPMed
rs533098631	433	R>K		No	1000Genomes
rs2069229342	434	R>*		No	TOPMed
rs551176344	435	E>*		No	1000Genomes
TCGA novel	435	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs551176344	435	E>Q		No	1000Genomes
rs1482499220	436	A>T		No	gnomAD
rs963769471	439	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs547639837	439	R>W		No	1000Genomes ExAC gnomAD
rs1602154377	440	E>D		No	Ensembl
rs1446067594	441	L>F		No	gnomAD
rs773975976	442	E>K		No	ExAC TOPMed gnomAD
rs371447448	443	R>K		No	ESP TOPMed gnomAD
rs759248303	445	R>Q		No	ExAC gnomAD
rs767027223	446	Q>P		No	ExAC
rs2069465108	447	L>F		No	TOPMed gnomAD
rs1357322509	449	W>S		No	gnomAD
rs1337125488	451	R>Q		No	gnomAD
rs757736852	451	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2069466169	453	R>Q		No	TOPMed
rs144048618	456	E>D		No	ESP TOPMed gnomAD
rs951098593	460	Q>*		No	TOPMed
rs951098593	460	Q>E		No	TOPMed
COSM3423931 COSM3423933 COSM3423932	461	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2069467159	461	R>K		No	TOPMed
TCGA novel	462	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2069467334	462	N>S		No	TOPMed
RCV001579323 rs2147816344	463	K>missing		No	ClinVar dbSNP
rs2069467523	463	K>R		No	TOPMed
rs780624357	466	E>A		No	ExAC gnomAD
COSM459625	466	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1203493739	467	D>G		No	gnomAD
rs1264135160	468	I>T		No	gnomAD
rs566065722	470	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs566065722	470	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs748205911	473	A>T		No	ExAC TOPMed gnomAD
rs2069470150	474	K>E		No	TOPMed
rs1431279627	476	K>N		No	TOPMed
rs536525393	477	T>A		No	1000Genomes ExAC gnomAD
rs180901992	478	L>S		No	1000Genomes ExAC TOPMed gnomAD
COSM5346630 COSM1307754 COSM5346629	483	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2069482209	486	N>S		No	TOPMed
rs745684064	487	D>N		No	ExAC gnomAD
rs2069482802	487	D>V		No	gnomAD
rs1279326746	489	K>Q		No	gnomAD
COSM5205900 COSM5205901 COSM5205899	489	K>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1225118460	490	H>Y		No	gnomAD
rs2069483958	491	Q>E		No	Ensembl
rs775020541	491	Q>H		No	ExAC TOPMed gnomAD
TCGA novel	493	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1569153072	493	E>G		No	Ensembl
rs2069484733	496	L>F		No	TOPMed gnomAD
COSM4101394 COSM4101396 COSM4101395	496	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1358137811	497	Q>K		No	gnomAD
rs1222542120	498	D>A		No	gnomAD
rs2069485496	498	D>N		No	Ensembl
rs1224067066	499	I>L		No	TOPMed gnomAD
rs1049465197	499	I>T		No	TOPMed gnomAD
rs1482024961	500	R>T		No	gnomAD
rs1411170207	502	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs527827314	502	R>Q		No	ExAC TOPMed gnomAD
rs751883177	504	T>A		No	ExAC TOPMed gnomAD
rs1424144806	504	T>I		No	TOPMed gnomAD
rs767980274	510	I>T		No	ExAC TOPMed gnomAD
rs759829776	510	I>V		No	ExAC TOPMed gnomAD
rs893380850	512	S>N		No	TOPMed gnomAD
rs574816046	513	T>I		No	1000Genomes ExAC gnomAD
rs1444755848	514	N>D		No	gnomAD
rs777811798	514	N>I		No	ExAC gnomAD
rs1381554892	515	K>N		No	TOPMed gnomAD
rs2069490452	515	K>Q		No	gnomAD
rs2069490892	516	S>*		No	Ensembl
rs1247155458	516	S>Y		No	gnomAD
rs2069492166	517	R>G		No	Ensembl
rs753939781	518	E>K		No	ExAC gnomAD
rs757148859	518	E>V		No	ExAC TOPMed gnomAD
rs2069494416	519	L>F		No	Ensembl
rs1195167683	519	L>S		No	gnomAD
rs778828523	520	R>K		No	ExAC gnomAD
COSM1030405	521	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745620946	522	A>G		No	ExAC gnomAD
COSM4693649 rs779966613 COSM169917 COSM4693648	523	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1444225684	523	E>V		No	gnomAD
rs2069495739	524	I>V		No	Ensembl
rs746611473	525	T>A		No	ExAC TOPMed gnomAD
rs1017738636	525	T>I		No	gnomAD
rs1474434707	526	H>Y		No	TOPMed gnomAD
rs2069497005	527	L>P		No	Ensembl
rs901993996	527	L>V		No	TOPMed
rs1397789205	529	Q>R		No	TOPMed gnomAD
rs144443158	530	Q>E		No	1000Genomes ExAC TOPMed gnomAD
rs2147820108	530	Q>P		No	Ensembl
TCGA novel	534	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1450784424	536	Q>R		No	TOPMed
TCGA novel	537	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781002829	538	L>F		No	ExAC gnomAD
rs998543786	539	G>A		No	TOPMed gnomAD
rs747858345	540	R>G		No	ExAC
rs769420583	540	R>S		No	ExAC gnomAD
rs373643952	541	L>I		No	ESP ExAC TOPMed gnomAD
rs2070174418	542	I>T		No	Ensembl
rs1282495880	543	P>L		No	gnomAD
rs746335223	544	E>G		No	ExAC gnomAD
rs1207143006	546	Q>R		No	gnomAD
rs374935070	547	I>M		No	gnomAD
rs775681162	549	N>K		No	ExAC gnomAD
rs142361441	549	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs761035834	550	D>E		No	ExAC gnomAD
COSM419249 rs2070176440	551	Q>R	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs2070176884	552	L>F		No	TOPMed
rs367784015	555	V>A		No	ESP ExAC TOPMed gnomAD
rs1197912762	556	Q>E		No	gnomAD
rs2147888370	558	N>S		No	1000Genomes
rs750566466	561	H>P		No	ExAC gnomAD
rs1179001631	561	H>Y		No	gnomAD
rs1433414458	563	D>G		No	TOPMed
COSM4852837 COSM4852836 COSM4852838	563	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139132438	565	L>F		No	ESP ExAC TOPMed gnomAD
rs139132438	565	L>I		No	ESP ExAC TOPMed gnomAD
rs201440281	565	L>R		No	1000Genomes ExAC gnomAD
rs766425642	567	T>I		No	ExAC
rs759585042	568	L>F		No	ExAC TOPMed gnomAD
rs1360176214	569	K>Q		No	gnomAD
rs1480529222	571	A>D		No	TOPMed gnomAD
TCGA novel	571	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1250079646	571	A>P		No	TOPMed gnomAD
rs1250079646	571	A>T		No	TOPMed gnomAD
rs1480529222	571	A>V		No	TOPMed gnomAD
rs1196716416	572	L>V		No	gnomAD
rs1239673875	573	E>D		No	TOPMed gnomAD
rs781625948	573	E>Q		No	Ensembl
rs914731886	574	A>T		No	TOPMed
rs755686300	575	K>R		No	ExAC gnomAD
rs2070234124 TCGA novel RCV001579320 COSM173562	576	E>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ClinVar NCI-TCGA Ensembl dbSNP
rs777491450	577	L>I		No	ExAC gnomAD
rs749894224	579	R>L		No	TOPMed gnomAD
rs749894224	579	R>Q		No	TOPMed gnomAD
rs371785092	579	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1372394557	580	Q>E		No	gnomAD
rs1462347653	581	H>P		No	gnomAD
rs2070235481	581	H>Q		No	Ensembl
rs756781441	583	R>Q		No	ExAC gnomAD
rs1450733750	584	D>E		No	gnomAD
rs778462764	584	D>G		No	ExAC TOPMed gnomAD
rs1891697059	586	L>P		No	TOPMed
rs2070236815	587	D>V		No	Ensembl
COSM3841830 COSM3841829 COSM3841831	588	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1352223484	589	V>M		No	TOPMed
rs747485694	591	K>R		No	ExAC gnomAD
rs1307405930	594	R>G		No	gnomAD
rs1228689726	594	R>I		No	TOPMed gnomAD
rs1228689726	594	R>K		No	TOPMed gnomAD
rs1228689726	594	R>T		No	TOPMed gnomAD
rs781488270	595	S>T		No	ExAC TOPMed gnomAD
COSM1030406	596	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1460213851	598	Q>*		No	gnomAD
rs2070239210	598	Q>H		No	Ensembl
rs1182811689	599	E>K		No	gnomAD
rs887041382	600	I>T		No	TOPMed gnomAD
rs1050984846	600	I>V		No	TOPMed gnomAD
rs769850078	601	D>G		No	ExAC gnomAD
rs1003851448	604	N>S		No	TOPMed gnomAD
rs1158034478	604	N>Y		No	gnomAD
rs1479636163	605	N>D		No	Ensembl
rs1184233063	605	N>S		No	gnomAD
rs1418783486	606	Q>H		No	gnomAD
rs1429042830	607	L>P		No	gnomAD
rs2070242384	608	K>R		No	Ensembl
rs1218534935	609	E>*		No	TOPMed
rs772020474	610	L>I		No	1000Genomes
COSM3550433 COSM3550435 COSM3550434	611	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745953273	613	I>M		No	ExAC gnomAD
rs774528531	613	I>T		No	ExAC gnomAD
rs1284318009	614	H>Y		No	gnomAD
rs775557166	619	L>R		No	ExAC gnomAD
rs1240291912	621	K>N		No	TOPMed gnomAD
rs1283061258	624	S>P		No	TOPMed gnomAD
rs1031160893	625	M>L		No	TOPMed gnomAD
COSM1534754 COSM6161379 COSM6161381 rs1266460178 COSM6161380	625	M>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1031160893	625	M>V		No	TOPMed gnomAD
rs760599859	626	E>D		No	ExAC gnomAD
rs958214404	626	E>K		No	Ensembl
rs373408649	628	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs199679586	629	R>L		No	1000Genomes ESP TOPMed gnomAD
rs199679586	629	R>Q		No	1000Genomes ESP TOPMed gnomAD
rs2071378556	630	L>R		No	Ensembl
rs2071378273	630	L>V		No	TOPMed
rs2071378901	631	K>N		No	TOPMed gnomAD
rs776341807	631	K>T		No	ExAC
TCGA novel	634	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2071379449	635	Q>E		No	Ensembl
rs2071379804	636	E>G		No	Ensembl
rs1248248548	637	R>Q		No	TOPMed gnomAD
rs1468362344	639	I>M		No	TOPMed gnomAD
rs761478455	640	I>T		No	ExAC gnomAD
COSM1307755	643	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1602272646	648	E>A		No	Ensembl
rs867011198	649	A>D		No	Ensembl
rs1160518695	650	Q>H		No	gnomAD
COSM4912705 COSM4912704 COSM4912706	651	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749877076	651	R>K		No	ExAC gnomAD
rs762631985	652	R>L		No	ExAC gnomAD
rs762631985	652	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2071645057	653	A>V		No	Ensembl
rs2148042910 RCV001579317	654	Q>*		No	ClinVar Ensembl dbSNP
rs765849633	654	Q>P		No	ExAC TOPMed gnomAD
TCGA novel	655	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	657	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1326003876	657	D>H		No	TOPMed
rs374968601	658	K>E		No	ESP ExAC TOPMed gnomAD
rs180730335	658	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs2071646735	659	Q>L		No	TOPMed
rs757686884	660	W>R		No	ExAC gnomAD
rs2071647119	661	L>P		No	TOPMed
rs779489217	662	E>G		No	ExAC gnomAD
rs750646540	663	H>D		No	ExAC gnomAD
rs758744871	663	H>R		No	ExAC TOPMed gnomAD
rs750646540	663	H>Y		No	ExAC gnomAD
rs1241486801	665	Q>H		No	gnomAD
COSM5130514 COSM1413912 COSM5130513	666	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1460959741	666	Q>P		No	TOPMed gnomAD
rs1460959741	666	Q>R		No	TOPMed gnomAD
rs2148043473	668	D>G		No	Ensembl
rs1188308312	668	D>N		No	gnomAD
COSM4295841 COSM4295840 COSM2844113	669	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1385104755	673	P>L		No	gnomAD
rs747091824	674	R>G		No	ExAC TOPMed gnomAD
rs1569199924	675	K>R		No	TOPMed
rs376139396 COSM3550437 COSM3550436 COSM3550438	678	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs201545935	679	E>K		No	gnomAD
rs201545935	679	E>Q		No	gnomAD
rs1569199991	679	E>V		No	Ensembl
rs2071650993	681	K>N		No	Ensembl
COSM1030408	681	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2071651372	683	K>E		No	gnomAD
rs769546913	685	E>K		No	ExAC gnomAD
rs769546913	685	E>Q		No	ExAC gnomAD
rs762540696	687	S>G		No	ExAC TOPMed gnomAD
rs1429953136	687	S>R		No	gnomAD
rs2071652550	689	K>E		No	TOPMed gnomAD
rs1342197848	689	K>R		No	TOPMed gnomAD
rs1278708747	690	K>T		No	gnomAD
rs139761574	691	K>E		No	ESP ExAC TOPMed gnomAD
rs1221435018	692	D>G		No	TOPMed gnomAD
rs1000332106	692	D>N		No	TOPMed
rs758978661	694	E>K		No	ExAC TOPMed gnomAD
rs972530973 COSM220441	695	E>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
COSM4746961 COSM4746960 COSM4746959	697	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1201177706	701	A>T		No	gnomAD
rs1412252919	702	Q>H		No	TOPMed
rs1322102424	702	Q>K		No	TOPMed gnomAD
rs1280835920	704	K>R		No	gnomAD
rs762453980	707	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs754299315	707	R>W		No	ExAC TOPMed gnomAD
rs2148044641	708	L>H		No	Ensembl
rs141317839	708	L>V		No	1000Genomes gnomAD
rs1569200437	709	F>L		No	Ensembl
rs2071657641	709	F>L		No	TOPMed
rs1569200437	709	F>V		No	Ensembl
rs2071658260	710	H>R		No	Ensembl
rs2071658005	710	H>Y		No	Ensembl
rs1336899139	712	H>R		No	gnomAD
rs2071659039	715	P>R		No	gnomAD
rs1602292961	715	P>S		No	Ensembl
rs1479033943	716	A>V		No	gnomAD
rs2071659631	717	K>E		No	Ensembl
rs765678311	720	V>I		No	ExAC gnomAD
rs2071660016	722	A>T		No	Ensembl
rs2071660464	724	W>*		No	Ensembl
rs1243067624	724	W>C		No	gnomAD
rs2071660896	725	S>C		No	Ensembl
COSM4101406 COSM4101408 COSM4101407	727	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1382167932	728	E>K		No	gnomAD
rs1336515977	729	K>R		No	TOPMed gnomAD
rs2071841909	730	G>D		No	TOPMed
rs2071841909	730	G>V		No	TOPMed
rs763242335	731	P>A		No	ExAC gnomAD
rs145376740	737	Q>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs950873983	738	E>D		No	TOPMed
rs751698164	738	E>K		No	ExAC gnomAD
rs2071844112	741	K>Q		No	TOPMed
rs2071844808	743	V>E		No	TOPMed
rs755276554	743	V>M		No	ExAC gnomAD
rs985361819	746	R>Q		No	TOPMed gnomAD
rs374245664	746	R>W		No	ESP ExAC TOPMed gnomAD
rs1159854030	747	A>S		No	TOPMed
COSM4937069 COSM4937070 COSM4937071	747	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2071846306	748	L>V		No	TOPMed
rs1602306998	749	Y>S		No	Ensembl
rs2071846905	750	P>L		No	TOPMed gnomAD
rs2071846905	750	P>R		No	TOPMed gnomAD
rs1231890672	754	R>G		No	TOPMed gnomAD
rs2071847376	755	S>G		No	gnomAD
rs1442190994	755	S>R		No	gnomAD
rs1162891760	756	H>R		No	gnomAD
TCGA novel	759	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1030409	760	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2071847985	760	T>S		No	Ensembl
rs909416894	761	I>V		No	TOPMed gnomAD
rs2071848418	762	Q>*		No	TOPMed
rs2071848932	762	Q>H		No	TOPMed gnomAD
rs2071848735	762	Q>R		No	TOPMed
rs201107589	763	P>A		No	1000Genomes TOPMed
rs201107589	763	P>S		No	1000Genomes TOPMed
rs755974128	765	D>N		No	ExAC gnomAD
COSM4693650 rs2071849815 COSM4693652 COSM4693651	768	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs774801131	770	K>E		No	ExAC TOPMed gnomAD
rs1402702053	771	G>R		No	gnomAD
TCGA novel	772	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs898961805	772	E>K		No	TOPMed gnomAD
COSM2150806	773	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	774	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs2072870438	777	S>I		No	TOPMed
rs1426099480	780	G>A		No	gnomAD
rs1400820234	780	G>R		No	TOPMed
rs1035683296	781	E>Q		No	Ensembl
rs2148187663	782	P>S		No	Ensembl
rs1156923746	783	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs2072871584	783	G>D		No	TOPMed
rs1156923746	783	G>S		No	1000Genomes TOPMed gnomAD
rs2148187766	784	W>*		No	Ensembl
COSM6094704 COSM6094705 COSM6094706	787	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3841835 COSM3841837 COSM3841836	790	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760929885	791	G>A		No	ExAC TOPMed gnomAD
rs376275091	793	T>I		No	ESP TOPMed gnomAD
rs2072872359	794	G>R		No	Ensembl
rs2072872359	794	G>W		No	Ensembl
COSM1307756 rs2148187943	795	W>*	urinary_tract Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2148188031	798	A>T		No	Ensembl
rs2072872875	798	A>V		No	Ensembl
COSM1751620 rs2072873268 COSM3933947	800	Y>C	urinary_tract [Cosmic]	No	cosmic curated Ensembl
rs267606114	800	Y>N		No	Ensembl
rs1364132282	801	A>T		No	gnomAD
rs2148188162	801	A>V		No	Ensembl
rs2072873952	802	E>D		No	Ensembl
rs1436168446	803	K>E		No	gnomAD
rs753977647	804	I>N		No	ExAC gnomAD
COSM3550441 COSM3550439 COSM3550440	805	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148188372	807	N>K		No	Ensembl
rs781033642	809	V>D		No	Ensembl
rs2072875202	810	P>R		No	TOPMed
rs2148188482	810	P>S		No	Ensembl
rs201031751	811	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs780063779	812	P>A		No	ExAC TOPMed gnomAD
rs1289458348	812	P>L		No	gnomAD
rs2148188670	816	V>E		No	Ensembl
rs751233796	816	V>L		No	ExAC gnomAD
rs751233796	816	V>M		No	ExAC gnomAD
rs1188810030	817	T>A		No	gnomAD
rs780808746	818	D>A		No	ExAC TOPMed gnomAD
rs2072876862	818	D>Y		No	TOPMed
rs2148188822	819	S>L		No	Ensembl
rs747697396	820	T>A		No	ExAC TOPMed gnomAD
rs2148188881	820	T>I		No	Ensembl
rs771280043	822	A>S		No	ExAC TOPMed gnomAD
rs771280043	822	A>T		No	ExAC TOPMed gnomAD
rs779459072	823	P>R		No	ExAC gnomAD
rs2072878000	823	P>S		No	Ensembl
rs746425456	824	A>V		No	ExAC TOPMed gnomAD
rs772397163	825	P>H		No	ExAC gnomAD
COSM3912045 COSM3912046 COSM3912044	825	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1428323420	826	K>Q		No	gnomAD
rs1351914489	826	K>R		No	gnomAD
rs775884476	827	L>V		No	ExAC TOPMed gnomAD
rs2148189361	828	A>D		No	Ensembl
rs760841811	828	A>T		No	ExAC gnomAD
COSM5366317 COSM5366316 COSM5366318	828	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768901601 COSM725235 COSM5131672 COSM5131671	830	R>C	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1028088112 COSM4101410 COSM4101409 COSM4101411	830	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1459798087	831	E>G		No	gnomAD
rs776509377	832	T>A		No	ExAC
rs776509377	832	T>P		No	ExAC
rs776509377	832	T>S		No	ExAC
rs2148189577	833	P>H		No	Ensembl
rs2072880837	833	P>S		No	TOPMed
rs2072880837	833	P>T		No	TOPMed
rs765293456	834	A>P		No	ExAC TOPMed gnomAD
rs765293456	834	A>S		No	ExAC TOPMed gnomAD
COSM444400 rs765293456 COSM5227680 COSM5227679	834	A>T	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	834	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1228743977	835	P>L		No	gnomAD
rs2148189826	836	L>V		No	Ensembl
rs908244701	837	A>T		No	gnomAD
rs2148189896	837	A>V		No	Ensembl
rs2148189924	838	V>I		No	Ensembl
COSM4942083 COSM4942082 COSM4942081	838	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs369327593	839	T>I		No	ESP TOPMed
rs369327593	839	T>N		No	ESP TOPMed
rs1602378590	840	S>P		No	Ensembl
rs2148190083	843	P>S		No	Ensembl
rs1180573036	844	S>F		No	gnomAD
rs200510636	845	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1602378692	845	T>P		No	Ensembl
rs766225849	846	T>P		No	ExAC gnomAD
rs1260485260	847	P>R		No	TOPMed
rs754610672	848	N>S		No	ExAC TOPMed gnomAD
rs754610672	848	N>T		No	ExAC TOPMed gnomAD
COSM3841840 COSM3841839 rs2072885449 COSM3841838	851	A>T	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs780907492	851	A>V		No	ExAC gnomAD
rs2072886212	852	D>G		No	TOPMed
rs567513630	852	D>N		No	1000Genomes ExAC gnomAD
rs1602379048	853	F>L		No	Ensembl
rs1339309675	854	S>G		No	gnomAD
rs2072887152	855	S>C		No	TOPMed gnomAD
rs746355159	856	T>A		No	ExAC gnomAD
rs772592802	856	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs746355159	856	T>P		No	ExAC gnomAD
rs2073093473	857	W>C		No	Ensembl
rs1264371857	858	P>S		No	1000Genomes TOPMed gnomAD
rs781452040	861	T>M		No	ExAC TOPMed gnomAD
rs781452040	861	T>R		No	ExAC TOPMed gnomAD
rs1478102347	862	N>D		No	gnomAD
rs141514423	863	E>G		No	ESP TOPMed gnomAD
rs2073094623	863	E>K		No	TOPMed
rs1173814511	864	K>E		No	gnomAD
rs1419033938	866	E>G		No	gnomAD
rs1377875641	866	E>Q		No	TOPMed gnomAD
rs377643560	867	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs377643560	867	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1569234672	868	D>E		No	Ensembl
rs2148218587	871	D>Y		No	Ensembl
rs774422281	872	A>G		No	ExAC gnomAD
rs1167808813	873	W>R		No	TOPMed
rs775173579	874	A>E		No	ExAC TOPMed gnomAD
rs2073096686	874	A>T		No	TOPMed
rs775173579	874	A>V		No	ExAC TOPMed gnomAD
rs199689124	875	A>T		No	ESP ExAC TOPMed gnomAD
rs768966402	875	A>V		No	Ensembl
rs924585580	877	P>A		No	TOPMed
rs1305729052	877	P>R		No	gnomAD
rs1351533048	878	S>C		No	TOPMed gnomAD
rs1351533048	878	S>F		No	TOPMed gnomAD
rs756747937	880	T>A		No	ExAC gnomAD
rs1266314621	881	V>A		No	gnomAD
rs147036952	881	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1569235001	883	S>G		No	Ensembl
rs373166988	885	G>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs373166988	885	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140905223	885	G>V		No	ESP ExAC TOPMed gnomAD
rs2073100019	886	Q>L		No	Ensembl
rs1438500944	890	R>K		No	gnomAD
rs1602395126	891	S>A		No	Ensembl
rs778127066	892	A>S		No	ExAC gnomAD
rs778127066	892	A>T		No	ExAC gnomAD
rs2073101116	895	P>L		No	TOPMed
rs2073101270	896	A>P		No	Ensembl
rs933553358	897	T>A		No	Ensembl
COSM1030411 rs377099843	897	T>M	endometrium [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs779181323	899	T>A		No	ExAC gnomAD
rs2073102513	900	G>S		No	gnomAD
rs1424758584	902	S>C		No	TOPMed gnomAD
rs1602395360	902	S>P		No	Ensembl
rs143723211	903	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs745772242	903	P>S		No	ExAC TOPMed gnomAD
rs745772242	903	P>T		No	ExAC TOPMed gnomAD
rs1375428962	904	S>C		No	TOPMed
COSM4398111 COSM4398110 COSM4398112	905	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1371769254	910	G>D		No	TOPMed gnomAD
rs1434301162	912	K>E		No	TOPMed
rs1331564845	913	V>M		No	gnomAD
rs758698817	915	G>W		No	ExAC gnomAD
rs751693562	919	Q>R		No	ExAC TOPMed gnomAD
rs2073421848	923	P>S		No	Ensembl
rs900882628	926	A>G		No	Ensembl
rs781090343	926	A>S		No	ExAC gnomAD
rs781090343	926	A>T		No	ExAC gnomAD
rs2073422593	928	K>E		No	TOPMed
rs2073422913	929	D>G		No	TOPMed
rs1185383739	929	D>N		No	gnomAD
TCGA novel	929	D>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1216843108	930	N>D		No	TOPMed gnomAD
rs1216843108	930	N>H		No	TOPMed gnomAD
rs1049483014	930	N>S		No	TOPMed
rs1441912954	931	H>R		No	TOPMed gnomAD
rs1259845651	933	N>H		No	gnomAD
rs2073424385	935	N>K		No	TOPMed
rs1487452457	935	N>S		No	gnomAD
rs755867780	936	K>R		No	ExAC gnomAD
rs777671752	938	D>H		No	ExAC TOPMed gnomAD
rs777671752	938	D>N		No	ExAC TOPMed gnomAD
rs777671752	938	D>Y		No	ExAC TOPMed gnomAD
rs748843237	939	V>I		No	ExAC TOPMed gnomAD
rs1170741059	940	I>V		No	gnomAD
rs770646771	941	T>A		No	ExAC TOPMed gnomAD
rs773666205	941	T>I		No	ExAC gnomAD
rs370969706	942	V>F		No	ESP ExAC TOPMed gnomAD
rs370969706	942	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1569244104	944	E>Q		No	Ensembl
rs777273587	946	Q>E		No	ExAC
rs762454074	948	M>L		No	ExAC gnomAD
rs762454074	948	M>V		No	ExAC gnomAD
rs1569244177	949	W>*		No	Ensembl
rs1025382610	951	F>S		No	TOPMed
rs765501018	952	G>A		No	ExAC gnomAD
rs1944160043	953	E>G		No	TOPMed
rs763048674	954	V>F		No	ExAC gnomAD
rs763048674	954	V>I		No	ExAC gnomAD
rs2148264599	955	Q>H		No	Ensembl
rs766634928	956	G>S		No	ExAC TOPMed gnomAD
TCGA novel	957	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1311575417	957	Q>R		No	TOPMed gnomAD
rs751833996	958	K>N		No	ExAC gnomAD
rs2073429083	961	F>C		No	Ensembl
rs2073428921	961	F>V		No	Ensembl
rs759604948	963	K>R		No	ExAC gnomAD
RCV001579318 rs2148264796	965	Y>*		No	ClinVar Ensembl dbSNP
rs2073429744	966	V>L		No	TOPMed
rs2073429744	966	V>M		No	TOPMed
rs1216174168	971	G>A		No	gnomAD
rs1216174168	971	G>E		No	gnomAD
COSM6094700 rs1448509034 COSM578890 COSM6094699	973	I>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM4101413 COSM4101412	975	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1246027463	976	S>F		No	gnomAD
rs539887450	977	T>A		No	1000Genomes ExAC gnomAD
rs558186603	977	T>I		No	1000Genomes ExAC gnomAD
COSM1632467	978	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1460213279	980	D>H		No	TOPMed gnomAD
rs2073492189	984	S>L		No	Ensembl
rs367925531	986	S>G		No	ESP TOPMed gnomAD
rs758150653	986	S>N		No	ExAC gnomAD
rs1428479472	988	A>G		No	TOPMed
rs2073493263	989	S>I		No	TOPMed
rs1213077839	989	S>R		No	gnomAD
rs372156010	990	L>I		No	ESP ExAC TOPMed gnomAD
rs1193011407	990	L>P		No	TOPMed gnomAD
rs372156010	990	L>V		No	ESP ExAC TOPMed gnomAD
COSM6008590 COSM1177139 rs1242902737	992	R>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs200116329	992	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs2073493967	993	V>A		No	TOPMed
rs200850499	994	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs754456971	995	S>C		No	Ensembl
rs2073494825	996	P>L		No	TOPMed
rs778336685	996	P>S		No	ExAC gnomAD
rs1256054576	998	A>G		No	TOPMed gnomAD
rs2073495916	999	K>N		No	Ensembl
rs749796773	1000	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs771300835	1001	V>I		No	ExAC TOPMed gnomAD
rs774720789	1002	V>I		No	ExAC TOPMed gnomAD
rs1475729176	1003	S>A		No	gnomAD
COSM5629129 rs772284990 COSM222410	1003	S>L	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764148741	1004	G>R		No	ExAC gnomAD
rs199861309	1006	E>A		No	1000Genomes TOPMed
rs199861309	1006	E>G		No	1000Genomes TOPMed
rs2148308597	1007	F>C		No	Ensembl
TCGA novel	1007	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2073808547	1008	I>M		No	Ensembl
TCGA novel	1009	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765273903	1010	M>I		No	ExAC TOPMed gnomAD
rs761774416	1010	M>K		No	ExAC TOPMed gnomAD
rs761774416	1010	M>R		No	ExAC TOPMed gnomAD
rs761774416	1010	M>T		No	ExAC TOPMed gnomAD
rs2073808729	1010	M>V		No	TOPMed
rs773086924	1011	Y>N		No	ExAC gnomAD
rs2073809682	1012	T>A		No	TOPMed
rs2073809855	1013	Y>*		No	TOPMed
COSM5829099 COSM1413913	1013	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1485739200	1014	E>K		No	gnomAD
rs2073810404	1015	S>N		No	Ensembl
rs751198160	1017	E>K		No	ExAC gnomAD
rs2073810720	1023	F>V		No	TOPMed
COSM4101415 COSM4101414	1025	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1243348010	1027	D>A		No	TOPMed
rs935811731	1028	V>M		No	TOPMed
rs922048723	1033	K>N		No	TOPMed
rs757702456	1034	K>E		No	ExAC gnomAD
COSM312096 rs2148309198 RCV001579324	1039	W>*	lung [Cosmic]	No	cosmic curated ClinVar Ensembl dbSNP
rs932040702	1042	T>R		No	TOPMed gnomAD
rs746443067	1044	G>R		No	ExAC gnomAD
rs534329964	1045	D>E		No	Ensembl
rs1439178942	1045	D>N		No	TOPMed gnomAD
rs758734169	1047	A>S		No	ExAC TOPMed gnomAD
rs2148309440	1047	A>V		No	Ensembl
COSM5440786 COSM5440785 rs1440104219	1048	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs747205867	1049	V>A		No	ExAC gnomAD
TCGA novel	1050	F>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1569254945	1052	S>C		No	Ensembl
COSM4101417 COSM4101416	1052	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1283093180	1054	Y>C		No	gnomAD
rs890418146	1060	S>A		No	TOPMed gnomAD
TCGA novel	1061	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs571982570	1062	G>S		No	1000Genomes ExAC gnomAD
rs778018287	1064	G>E		No	ExAC gnomAD
rs1359667414	1065	T>S		No	TOPMed gnomAD
rs1281209283	1065	T>S		No	gnomAD
rs2074000724	1066	A>S		No	Ensembl
rs749194076	1067	G>E		No	ExAC gnomAD
rs770996681	1069	T>A		No	ExAC gnomAD
rs774137935	1070	G>V		No	ExAC gnomAD
rs1419889472	1071	S>R		No	gnomAD
rs1315885012	1072	L>S		No	TOPMed gnomAD
rs759236714	1073	G>R		No	ExAC gnomAD
COSM1641456 COSM4336863	1075	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2074002104	1075	K>N		No	TOPMed
rs2074002242	1076	P>L		No	TOPMed
TCGA novel	1076	P>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs961259059	1077	E>D		No	Ensembl
rs2074175871	1080	Q>R		No	TOPMed
rs771743810	1081	V>A		No	ExAC gnomAD
rs771743810	1081	V>D		No	ExAC gnomAD
rs1569267041	1081	V>I		No	Ensembl
rs200073587	1082	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs1448347335	1083	A>T		No	Ensembl
TCGA novel	1085	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs936698706	1086	T>A		No	TOPMed
rs1297739490	1086	T>I		No	gnomAD
COSM1413914 rs913872456	1087	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA gnomAD
rs767729155	1089	G>D		No	ExAC TOPMed gnomAD
rs760108413	1089	G>R		No	ExAC TOPMed gnomAD
rs760108413	1089	G>S		No	ExAC TOPMed gnomAD
rs767729155	1089	G>V		No	ExAC TOPMed gnomAD
rs1325641330	1090	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM4819535 COSM4819536 rs2074179091	1091	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1453844010	1095	L>V		No	TOPMed gnomAD
rs764397454	1096	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1156420285	1096	A>V		No	TOPMed
rs754177477	1097	P>A		No	ExAC TOPMed gnomAD
rs754177477	1097	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1272439562	1098	G>A		No	TOPMed gnomAD
COSM1030415	1098	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1188656204	1099	Q>L		No	TOPMed gnomAD
rs535264292	1104	R>L		No	1000Genomes ExAC TOPMed gnomAD
COSM1211185 rs535264292	1104	R>Q	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs745745415	1105	K>E		No	ExAC gnomAD
rs554932669	1105	K>I		No	ExAC gnomAD
rs554932669	1105	K>R		No	ExAC gnomAD
rs1365241774	1108	P>R		No	gnomAD
rs1569267628	1109	G>C		No	Ensembl
rs1163272581	1109	G>D		No	gnomAD
rs1417721771	1110	G>*		No	gnomAD
rs201077384	1112	W>C		No	1000Genomes
rs768502491	1114	G>E		No	ExAC gnomAD
rs1295300557	1115	E>K		No	gnomAD
rs758212573	1118	A>T		No	ExAC gnomAD
rs1235101198	1118	A>V		No	gnomAD
rs779957035	1119	R>C		No	ExAC TOPMed gnomAD
rs2074475719	1119	R>H		No	TOPMed
rs747021058	1122	K>Q		No	ExAC gnomAD
rs1325821849	1123	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs754740442	1124	Q>R		No	ExAC TOPMed gnomAD
COSM3405373 rs2074476278 COSM3405374	1126	G>S	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2074476418	1126	G>V		No	TOPMed
COSM3550448 COSM3550447	1129	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs199990852	1130	A>S		No	TOPMed gnomAD
rs2074476662	1130	A>V		No	TOPMed gnomAD
rs780983949	1132	Y>C		No	ExAC TOPMed gnomAD
rs780983949	1132	Y>F		No	ExAC TOPMed gnomAD
rs780983949	1132	Y>S		No	ExAC TOPMed gnomAD
rs1209704617	1133	V>I		No	TOPMed gnomAD
rs747710795	1134	K>R		No	ExAC TOPMed gnomAD
rs769489097	1135	L>R		No	ExAC TOPMed gnomAD
rs777086928	1136	L>I		No	ExAC TOPMed gnomAD
rs2074477819	1137	S>G		No	TOPMed
VAR_070011 rs187895245	1137	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs201419866	1138	P>R		No	1000Genomes ExAC gnomAD
rs200762568	1140	T>M		No	ExAC TOPMed gnomAD
rs1333101773	1141	S>G		No	TOPMed
rs534506275	1141	S>N		No	1000Genomes
rs1392108558	1142	K>T		No	TOPMed gnomAD
rs1004780994	1143	I>M		No	TOPMed
rs1385984924	1143	I>V		No	TOPMed gnomAD
rs761313234	1146	T>A		No	ExAC TOPMed gnomAD
TCGA novel	1148	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs769093517	1151	S>L		No	ExAC TOPMed gnomAD
rs1384093143	1152	T>S		No	gnomAD
rs777085854	1153	A>V		No	ExAC gnomAD
rs200818653	1155	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs200818653	1155	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs750672753	1156	A>E		No	ExAC gnomAD
rs755904968	1157	V>A		No	ExAC gnomAD
rs777478671	1158	C>S		No	ExAC gnomAD
rs753481055	1160	V>A		No	ExAC gnomAD
rs267606115	1162	G>R		No	Ensembl
rs201693658	1165	D>N		No	ESP ExAC TOPMed gnomAD
rs745386929	1167	T>I		No	ExAC gnomAD
rs185723649	1168	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs748645246	1168	A>V		No	ExAC TOPMed gnomAD
rs2074610995	1169	Q>*		No	Ensembl
rs773476019	1170	N>S		No	ExAC TOPMed gnomAD
rs1471893861	1172	D>N		No	TOPMed
rs139755461	1176	F>V		No	ESP ExAC TOPMed gnomAD
rs188915920	1177	N>D		No	1000Genomes ExAC TOPMed gnomAD
rs767532845	1177	N>S		No	ExAC TOPMed gnomAD
rs767532845	1177	N>T		No	ExAC TOPMed gnomAD
rs760552809	1179	G>D		No	ExAC gnomAD
rs2074612609	1180	Q>R		No	Ensembl
rs2074612859	1181	I>T		No	Ensembl
rs763908413	1181	I>V		No	ExAC TOPMed gnomAD
rs372383366	1183	N>S		No	ESP ExAC TOPMed gnomAD
rs764971322	1184	V>I		No	ExAC TOPMed gnomAD
rs764971322	1184	V>L		No	ExAC TOPMed gnomAD
rs1169168864	1185	L>F		No	gnomAD
rs1370734182	1185	L>H		No	gnomAD
TCGA novel	1187	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779481974	1187	K>N		No	ExAC TOPMed gnomAD
TCGA novel	1188	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1602536185	1190	P>L		No	TOPMed gnomAD
rs1310168098	1190	P>S		No	gnomAD
rs756580360	1191	D>A		No	ExAC gnomAD
TCGA novel	1191	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2074614603	1191	D>Y		No	TOPMed
rs2074614869	1192	W>C		No	gnomAD
rs778136789	1193	W>R		No	ExAC
rs2074615127	1194	K>R		No	TOPMed gnomAD
TCGA novel	1195	G>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM115686	1195	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs376413318	1198	N>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	1202	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM725234 rs1382008003	1206	S>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	1207	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs929342450	1207	N>S		No	TOPMed
rs984751447	1208	Y>C		No	TOPMed gnomAD
rs984751447	1208	Y>F		No	TOPMed gnomAD
rs1343061780	1212	T>I		No	gnomAD
rs1278532338	1213	T>A		No	gnomAD
COSM6094697 COSM6094698	1214	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2074616934	1215	M>R		No	gnomAD
rs2074616934	1215	M>T		No	gnomAD
rs772141065	1215	M>V		No	ExAC gnomAD
rs1602536527	1216	D>A		No	TOPMed
rs1602536527	1216	D>G		No	TOPMed
rs1602536577	1217	P>Q		No	Ensembl
rs374844830	1219	Q>H		No	ESP ExAC TOPMed gnomAD
rs2074617867	1220	Q>H		No	TOPMed
rs760594941	1220	Q>P		No	ExAC gnomAD
rs2074617994	1221	W>G		No	TOPMed
COSM6094694 COSM6094693	1221	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1979414884	1224	D>E		No	TOPMed gnomAD
COSM3550450 COSM3550449	1224	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1225	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs527375628	1226	H>L		No	1000Genomes ExAC gnomAD
rs527375628	1226	H>R		No	1000Genomes ExAC gnomAD
rs1303504348	1226	H>Y		No	TOPMed
rs1979416947	1228	L>S		No	gnomAD
rs1979417895	1230	M>V		No	gnomAD
rs1158929382	1232	T>I		No	gnomAD
rs542782139	1234	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs1275928791	1234	T>I		No	TOPMed gnomAD
rs1275928791	1234	T>N		No	TOPMed gnomAD
rs769863378	1236	R>G		No	ExAC gnomAD
rs1162793857	1237	K>R		No	gnomAD
rs997210138	1238	R>*		No	Ensembl
rs201178787	1238	R>Q		No	TOPMed gnomAD
rs773336718	1241	Y>H		No	ExAC gnomAD
rs770796256	1243	H>Q		No	ExAC TOPMed gnomAD
TCGA novel	1243	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM2844168 rs1979424956	1244	E>K	liver [Cosmic]	No	cosmic curated Ensembl
rs1979425412	1245	L>F		No	1000Genomes
rs1979425412	1245	L>I		No	1000Genomes
rs1331045533	1246	I>L		No	gnomAD
rs1231375373	1246	I>T		No	TOPMed gnomAD
rs1264857466	1247	V>I		No	gnomAD
COSM5057573 COSM1030417 rs1211156247	1249	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	1250	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1028461442	1250	E>K		No	TOPMed gnomAD
rs1181836739	1253	V>M		No	gnomAD
TCGA novel	1253	V>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1255	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752206485	1256	L>V		No	ExAC gnomAD
rs1379242671	1258	L>V		No	TOPMed
rs762248759	1259	V>F		No	ExAC gnomAD
rs1979856981	1262	I>V		No	gnomAD
COSM261472	1264	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1246781777	1268	M>I		No	gnomAD
rs1979859450	1269	E>A		No	Ensembl
rs967427079	1269	E>D		No	Ensembl
rs2148482777	1269	E>K		No	Ensembl
rs2148482799	1271	E>K		No	Ensembl
rs751961174	1274	T>A		No	ExAC gnomAD
rs1346918496	1275	E>G		No	TOPMed gnomAD
rs1979861530	1277	E>Q		No	gnomAD
TCGA novel	1277	E>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs149830687	1278	V>I		No	ESP ExAC TOPMed gnomAD
rs1393077084	1279	A>S		No	TOPMed gnomAD
rs1392206544	1280	M>L		No	gnomAD
rs1569310168	1280	M>R		No	Ensembl
rs767843094	1282	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
TCGA novel	1282	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs753004103	1283	V>M		No	ExAC gnomAD
COSM3405377 COSM3405378	1284	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1431331665	1290	M>I		No	gnomAD
rs1979866495	1290	M>V		No	Ensembl
rs374237907	1292	N>D		No	ESP ExAC TOPMed gnomAD
RCV002267343 rs2148501075	1298	A>V		No	ClinVar Ensembl dbSNP
rs1418779509	1300	R>K		No	TOPMed
COSM5097436 COSM1413915	1302	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746627172	1304	K>M		No	ExAC TOPMed gnomAD
rs1981340670	1306	S>C		No	Ensembl
rs1179675954	1307	G>R		No	gnomAD
rs1445959499	1308	E>D		No	TOPMed gnomAD
TCGA novel	1308	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1981343099	1308	E>K		No	Ensembl
rs1981344499	1309	K>R		No	TOPMed
rs1472829297	1310	M>I		No	gnomAD
rs1259051665	1310	M>V		No	TOPMed gnomAD
rs1184231848	1311	P>S		No	gnomAD
rs780514538	1312	V>L		No	ExAC gnomAD
rs747685000	1313	K>R		No	ExAC gnomAD
rs950936844	1314	M>I		No	Ensembl
rs769223637	1315	I>T		No	ExAC TOPMed gnomAD
rs774973776	1318	I>S		No	ExAC gnomAD
rs199694383	1321	A>S		No	1000Genomes ExAC gnomAD
rs199694383	1321	A>T		No	1000Genomes ExAC gnomAD
TCGA novel	1322	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1410877412	1324	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1377661948	1326	M>L		No	gnomAD
rs965833103	1330	I>V		No	TOPMed
COSM5461018 COSM5461017	1331	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148501357	1331	R>L		No	Ensembl
rs1272467370	1333	C>R		No	Ensembl
rs1284036421	1334	S>R		No	TOPMed gnomAD
rs2148501389	1334	S>T		No	Ensembl
rs201465943	1335	R>C		No	ExAC gnomAD
rs1223546579	1335	R>L		No	TOPMed gnomAD
COSM3550452 COSM3550451	1335	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764356694	1337	L>H		No	ExAC gnomAD
rs145345122	1338	N>S		No	ESP ExAC gnomAD
rs1235619622	1339	G>R		No	TOPMed gnomAD
rs147679731	1340	A>T		No	ESP ExAC TOPMed gnomAD
rs1251151046	1341	A>S		No	gnomAD
rs1251151046	1341	A>T		No	gnomAD
rs779781593	1346	K>N		No	ExAC TOPMed gnomAD
COSM5067650 COSM1566080	1346	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781233789	1347	T>K		No	gnomAD
COSM4752653 rs781233789 COSM4752654	1347	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs9976801	1348	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1331315779	1348	D>N		No	gnomAD
rs1303993322	1349	E>G		No	gnomAD
rs1447947972	1349	E>K		No	TOPMed gnomAD
rs1981366732	1351	P>T		No	TOPMed
rs1024356918	1352	D>E		No	Ensembl
rs1226328098	1352	D>Y		No	gnomAD
rs1981368577	1353	F>I		No	TOPMed gnomAD
rs2024913125	1354	K>T		No	TOPMed
rs1230271558	1356	F>L		No	gnomAD
COSM270936 rs185389697	1357	V>F	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs185389697	1357	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776188552	1362	M>I		No	Ensembl
rs762825823	1362	M>V		No	ExAC gnomAD
rs1343998353	1363	D>N		No	gnomAD
rs1476149405	1364	P>L		No	TOPMed gnomAD
rs1014161765	1364	P>S		No	TOPMed gnomAD
rs1014161765	1364	P>T		No	TOPMed gnomAD
rs751534711	1365	R>G		No	ExAC TOPMed gnomAD
rs754793119	1365	R>Q		No	ExAC TOPMed gnomAD
rs751534711	1365	R>W		No	ExAC TOPMed gnomAD
rs56279221	1367	K>I		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV001693616 rs56279221	1367	K>R		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2148506444	1368	G>A		No	Ensembl
TCGA novel	1368	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1052822780	1371	L>V		No	gnomAD
COSM3991923 COSM3991922	1372	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780248342	1375	I>M		No	Ensembl
rs1569320677	1376	L>V		No	Ensembl
TCGA novel	1378	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1477883465	1379	M>I		No	gnomAD
TCGA novel	1381	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1263461434	1381	R>W		No	TOPMed gnomAD
rs1602648581	1385	Y>H		No	Ensembl
rs201262861	1387	L>P		No	1000Genomes TOPMed gnomAD
rs2148506549	1389	I>N		No	Ensembl
rs1602648613	1390	K>N		No	Ensembl
rs1207147985	1391	N>S		No	TOPMed
rs1437633267	1392	I>M		No	TOPMed
rs763809003	1392	I>N		No	ExAC TOPMed gnomAD
rs1983552260	1393	L>P		No	Ensembl
rs966788642	1394	E>G		No	Ensembl
rs1411172210	1395	N>K		No	TOPMed gnomAD
rs1288866521	1396	T>P		No	gnomAD
rs1288866521	1396	T>S		No	gnomAD
rs1983555743	1396	T>S		No	Ensembl
rs1602679325	1397	P>A		No	TOPMed
COSM3673179 rs1602679325	1397	P>T	prostate [Cosmic]	No	cosmic curated TOPMed
rs753612499	1398	E>G		No	ExAC TOPMed gnomAD
rs1283096589	1398	E>K		No	gnomAD
rs753612499	1398	E>V		No	ExAC TOPMed gnomAD
rs1351369998	1399	N>K		No	TOPMed
rs1983558806	1399	N>S		No	TOPMed
rs1482258268	1400	H>Q		No	gnomAD
rs756814425	1401	P>L		No	ExAC TOPMed gnomAD
rs1286087731	1402	D>E		No	gnomAD
rs778578618	1403	H>P		No	ExAC gnomAD
rs1185425306	1403	H>Q		No	gnomAD
rs778578618	1403	H>R		No	ExAC gnomAD
rs1910131563	1404	S>G		No	TOPMed
rs747481208	1404	S>N		No	ExAC gnomAD
rs1473199365	1404	S>R		No	gnomAD
rs1449481033	1407	K>M		No	TOPMed
rs755469594	1408	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs781569279	1409	A>S		No	ExAC TOPMed gnomAD
rs781569279	1409	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs770179954	1410	L>V		No	ExAC gnomAD
rs749530031	1413	A>V		No	ExAC TOPMed gnomAD
TCGA novel	1415	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs548656402	1415	E>D		No	ExAC gnomAD
rs1983568399	1417	C>Y		No	Ensembl
COSM3963943 rs1294890969	1418	S>C	lung [Cosmic]	No	cosmic curated gnomAD
COSM6161377 COSM6161378	1419	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1983570351	1422	E>D		No	TOPMed
COSM3912050 rs759471287 COSM3912049	1422	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs759471287	1422	E>Q		No	ExAC gnomAD
rs1983570763	1423	G>E		No	Ensembl
rs2148531521	1423	G>R		No	Ensembl
rs1223964734	1425	R>Q		No	TOPMed gnomAD
rs187930521 COSM444401	1425	R>W	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed
TCGA novel	1427	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1428	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs775539589	1428	E>Q		No	ExAC TOPMed gnomAD
TCGA novel	1429	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs905979723	1429	N>S		No	TOPMed gnomAD
rs764039448	1431	D>E		No	ExAC gnomAD
rs977211798	1431	D>Y		No	Ensembl
rs761560907	1432	R>L		No	ExAC TOPMed gnomAD
rs761560907	1432	R>Q		No	ExAC TOPMed gnomAD
rs377669374	1432	R>W		No	ESP ExAC TOPMed gnomAD
rs764762784	1434	E>G		No	ExAC gnomAD
rs749922516	1435	W>G		No	ExAC gnomAD
rs2148531682	1437	Q>*		No	Ensembl
rs1293890007	1439	H>R		No	TOPMed
rs549648084	1439	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs756454056	1442	C>R		No	ExAC gnomAD
rs1317970810	1445	L>P		No	TOPMed gnomAD
rs1468434862	1450	V>M		No	TOPMed
rs2148556842 RCV001579321	1452	N>Y		No	ClinVar Ensembl dbSNP
rs768735426 COSM1158230 COSM3389946	1460	P>L	Variant assessed as Somatic; MODERATE impact. pancreas central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1030420	1460	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV002462339 COSM5755653 RCV001172294 COSM5755654 rs1985063411	1461	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar TOPMed dbSNP
rs1357531112 COSM341235	1461	R>H	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1985063411	1461	R>S		No	TOPMed
rs1189577938	1465	H>D		No	Ensembl
rs747917600	1466	S>R		No	ExAC
rs769695219	1467	G>E		No	ExAC gnomAD
rs1242319827	1468	K>Q		No	TOPMed
rs772722021	1470	Y>C		No	ExAC TOPMed gnomAD
rs1985067943	1471	K>E		No	TOPMed
TCGA novel	1473	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1030421	1475	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1479	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1480	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1480	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1985069875	1483	F>C		No	gnomAD
rs1985070615	1484	N>D		No	gnomAD
rs1347687279	1485	D>A		No	gnomAD
COSM300378	1485	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1293814714 COSM3550458 COSM3550457	1487	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs754410795	1491	Q>H		No	ExAC gnomAD
rs1040261538 COSM1413918 COSM5829100	1493	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1040261538	1493	T>R		No	TOPMed gnomAD
rs779828423	1495	P>A		No	ExAC TOPMed gnomAD
rs780230800	1495	P>L		No	ExAC TOPMed gnomAD
rs779828423	1495	P>T		No	ExAC TOPMed gnomAD
rs749024844	1501	T>N		No	Ensembl
rs1985078128	1502	D>E		No	Ensembl
rs773094165	1502	D>H		No	ExAC gnomAD
rs773094165	1502	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1178947112	1503	K>E		No	gnomAD
rs748847627	1504	V>A		No	ExAC gnomAD
rs1985079996	1508	K>R		No	TOPMed
rs774034996	1512	Q>H		No	ExAC
rs1985081191	1513	Y>F		No	TOPMed
COSM6161375 COSM6161376	1513	Y>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3841846 COSM3841845	1514	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1515	M>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1386736207 TCGA novel	1515	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1985081582	1515	M>T		No	Ensembl
rs200922343	1519	P>A		No	1000Genomes ExAC gnomAD
rs1985286612	1519	P>H		No	Ensembl
rs200922343	1519	P>T		No	1000Genomes ExAC gnomAD
rs1269880681	1522	L>V		No	gnomAD
rs1602715207	1532	D>A		No	Ensembl
rs75569856	1536	D>E		No	ExAC TOPMed gnomAD
rs1344783696	1536	D>N		No	TOPMed
rs1985291299	1537	E>D		No	Ensembl
rs773631437	1537	E>K		No	ExAC gnomAD
rs1985293106	1545	I>N		No	TOPMed
rs751769880	1545	I>V		No	ExAC gnomAD
COSM5201565 rs759839079 COSM444402	1547	R>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM4295921 rs374602007 COSM1681947	1547	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs759839079	1547	R>S		No	ExAC TOPMed gnomAD
rs756190215	1548	V>I		No	ExAC
rs1423613630	1549	Y>C		No	gnomAD
rs1985294592	1549	Y>H		No	Ensembl
rs1985295287	1550	T>I		No	TOPMed
rs777765337	1551	L>I		No	ExAC gnomAD
rs777765337	1551	L>V		No	ExAC gnomAD
rs1408360223 COSM419248	1552	R>Q	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1985296890	1553	A>T		No	Ensembl
COSM6094691 COSM6094692	1554	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754450226	1560	T>A		No	ExAC gnomAD
rs1011072630	1560	T>I		No	TOPMed gnomAD
rs780567832	1561	A>P		No	ExAC TOPMed gnomAD
rs780567832	1561	A>T		No	ExAC TOPMed gnomAD
rs202056804	1561	A>V		No	1000Genomes ExAC gnomAD
rs771546522	1563	V>L		No	ExAC gnomAD
rs771546522	1563	V>M		No	ExAC gnomAD
TCGA novel	1565	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746235581	1568	A>D		No	ExAC gnomAD
rs1425009835	1570	S>Y		No	gnomAD
COSM4847366 COSM4847367	1571	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772381145	1572	L>H		No	ExAC gnomAD
rs1368558188	1574	I>V		No	gnomAD
rs1985558977	1576	T>A		No	Ensembl
rs1028663752	1577	E>K		No	TOPMed
rs202038247	1578	K>T		No	1000Genomes ExAC gnomAD
rs1329516789	1581	R>H		No	TOPMed gnomAD
rs1445214379	1582	E>K		No	TOPMed gnomAD
rs530877301	1584	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs1985562582	1584	A>T		No	Ensembl
rs530877301	1584	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1328630279	1587	V>D		No	gnomAD
rs1985564375	1587	V>I		No	gnomAD
rs2148566630	1588	R>G		No	Ensembl
rs1164637837	1588	R>H		No	TOPMed gnomAD
rs946876442	1589	S>Y		No	TOPMed gnomAD
TCGA novel	1590	Q>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs147520772	1592	A>T		No	ESP ExAC TOPMed gnomAD
rs755631618	1594	G>C		No	ExAC TOPMed gnomAD
rs755631618	1594	G>S		No	ExAC TOPMed gnomAD
rs1259124176	1597	R>W		No	gnomAD
rs1391103034	1598	L>V		No	TOPMed gnomAD
rs2148566734 COSM1030422	1600	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs191579985	1601	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs758854261	1606	I>L		No	ExAC gnomAD
rs372197768 COSM1316605	1607	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ESP TOPMed gnomAD
rs769129278	1609	K>E		No	ExAC TOPMed gnomAD
rs1985634311	1609	K>T		No	TOPMed
rs1342238619	1610	P>S		No	gnomAD
rs1321411277	1611	C>S		No	gnomAD
rs781378050	1612	R>Q		No	ExAC gnomAD
rs897452417	1612	R>W		No	TOPMed gnomAD
rs1985636912	1613	S>L		No	Ensembl
COSM355571 rs771953471	1616	K>R	lung [Cosmic]	No	cosmic curated ExAC gnomAD
COSM3550459 COSM3550460	1618	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375436225	1619	P>L		No	ESP ExAC TOPMed gnomAD
rs1985797544	1621	C>Y		No	TOPMed
rs1569346360	1627	S>T		No	Ensembl
rs1985799660	1628	Q>K		No	Ensembl
rs1985800506	1632	T>S		No	Ensembl
rs1569346384	1633	K>Q		No	Ensembl
rs1017841591	1633	K>R		No	TOPMed gnomAD
rs145479081	1634	T>M		No	ESP ExAC TOPMed gnomAD
rs1318806349	1635	I>M		No	TOPMed
rs756507579	1637	D>E		No	ExAC gnomAD
rs753036054	1637	D>G		No	ExAC gnomAD
rs1206619692	1639	L>R		No	gnomAD
rs371476437	1642	K>R		No	ESP ExAC TOPMed gnomAD
COSM1751621 rs905634308	1645	S>F	urinary_tract [Cosmic]	No	cosmic curated Ensembl
rs79461700	1645	S>P		No	Ensembl
rs1985805865	1646	N>S		No	Ensembl
rs1985806208	1647	C>G		No	Ensembl
rs757221832	1647	C>Y		No	ExAC gnomAD
rs1985807306	1650	F>S		No	TOPMed
rs1985807633	1651	I>V		No	Ensembl
rs1473952903	1652	R>*		No	TOPMed gnomAD
rs1333297978	1652	R>Q		No	TOPMed gnomAD
rs1002075112	1655	E>V		No	TOPMed gnomAD
rs1429626537	1661	I>M		No	gnomAD
rs772113073	1665	E>K		No	ExAC TOPMed gnomAD
rs2148570448	1670	S>L		No	Ensembl
rs1035866881	1672	D>E		No	Ensembl
COSM4101421 COSM4101420	1674	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1675	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1986081355	1678	T>A		No	gnomAD
COSM1681948 rs762442834	1678	T>M	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs1248501456 COSM1030423	1681	R>C	pancreas endometrium [Cosmic]	No	cosmic curated 1000Genomes TOPMed gnomAD
rs775912926 COSM1413919 COSM5141356	1681	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs569760339	1682	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs777159341	1683	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs765494185	1685	I>M		No	ExAC TOPMed gnomAD
rs1986084488	1685	I>V		No	TOPMed
TCGA novel	1686	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1049059139	1688	D>H		No	Ensembl
TCGA novel	1688	D>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1689	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1325502152	1689	Q>R		No	gnomAD
COSM3550463 COSM3550464	1690	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201935892	1692	K>E		No	1000Genomes ExAC TOPMed gnomAD
rs751501653	1693	G>S		No	ExAC TOPMed
rs1440879945	1695	V>L		No	gnomAD
rs369283779	1696	T>M		No	ESP ExAC TOPMed gnomAD
TCGA novel	1697	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1290026665	1699	L>R		No	gnomAD
rs1986089324	1702	H>Y		No	TOPMed
rs769542325	1705	P>L		No	ExAC TOPMed gnomAD
rs1569348934	1705	P>S		No	gnomAD
rs1292677447	1706	T>M		No	gnomAD
rs1181191917	1707	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1393876470	1709	I>T		No	gnomAD
TCGA novel	1710	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1251628654	1712	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs770392198	1712	R>H		No	ExAC TOPMed gnomAD
COSM3550465 COSM3550466	1714	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1718	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs759096233	1719	D>E		No	ExAC gnomAD
rs372446522	1719	D>N		No	ESP ExAC TOPMed gnomAD
COSM6094690 COSM579265 rs1986094522 COSM6094689	1720	E>K	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic TOPMed
rs145445183 RCV000997827	1721	P>L		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs762227353	1722	P>Q		No	ExAC gnomAD

No associated diseases with Q15811

3 regional properties for Q15811

Type	Name	Position	InterPro Accession
domain	IPT domain	595 - 694	IPR002909
domain	Rel homology domain, DNA-binding domain	410 - 592	IPR011539
domain	Rel homology dimerisation domain	598 - 696	IPR032397

Functions

		Description
EC Number
Subcellular Localization	Endomembrane system Synapse, synaptosome Cell projection, lamellipodium Cell membrane Membrane, clathrin-coated pit Recycling endosome Endosome Cytoplasmic vesicle	Colocalizes with SGIP1 at the plasma membrane in structures corresponding most probably to clathrin-coated pits (PubMed:20946875) Colocalizes with RAB13 on cytoplasmic vesicles that are most likely recycling endosomes (PubMed:29030480)
PANTHER Family	PTHR46006	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR AT 64C, ISOFORM A
PANTHER Subfamily	PTHR46006:SF9	INTERSECTIN-2 ISOFORM X1
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator protein-binding activity modulator
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
clathrin-coated pit	A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular vesicle	Any vesicle that is part of the intracellular region.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.

4 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
proline-rich region binding	Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein.

7 GO annotations of biological process

Name	Definition
clathrin-dependent synaptic vesicle endocytosis	Clathrin-dependent endocytosis of presynaptic membrane regions comprising synaptic vesicles' membrane constituents. This is a relatively slow process occurring in the range of tens of seconds.
endosomal transport	The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
E1BKY4	ITSN1	Intersectin 1	Bos taurus (Bovine)	SS
A0A2I2U1K8	ITSN1	Intersectin 1	Felis catus (Cat) (Felis silvestris catus)	SS
A0A2I3T257	ITSN1	Intersectin 1	Pan troglodytes (Chimpanzee)	SS
Q9NZM3	ITSN2	Intersectin-2	Homo sapiens (Human)	SS
Q8NFH8	REPS2	RalBP1-associated Eps domain-containing protein 2	Homo sapiens (Human)	PR
Q9Z0R6	Itsn2	Intersectin-2	Mus musculus (Mouse)	SS
Q9Z0R4	Itsn1	Intersectin-1	Mus musculus (Mouse)	EV
Q9WVE9	Itsn1	Intersectin-1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MAQFPTPFGG	SLDIWAITVE	ERAKHDQQFH	SLKPISGFIT	GDQARNFFFQ	SGLPQPVLAQ
70	80	90	100	110	120
IWALADMNND	GRMDQVEFSI	AMKLIKLKLQ	GYQLPSALPP	VMKQQPVAIS	SAPAFGMGGI
130	140	150	160	170	180
ASMPPLTAVA	PVPMGSIPVV	GMSPTLVSSV	PTAAVPPLAN	GAPPVIQPLP	AFAHPAATLP
190	200	210	220	230	240
KSSSFSRSGP	GSQLNTKLQK	AQSFDVASVP	PVAEWAVPQS	SRLKYRQLFN	SHDKTMSGHL
250	260	270	280	290	300
TGPQARTILM	QSSLPQAQLA	SIWNLSDIDQ	DGKLTAEEFI	LAMHLIDVAM	SGQPLPPVLP
310	320	330	340	350	360
PEYIPPSFRR	VRSGSGISVI	SSTSVDQRLP	EEPVLEDEQQ	QLEKKLPVTF	EDKKRENFER
370	380	390	400	410	420
GNLELEKRRQ	ALLEQQRKEQ	ERLAQLERAE	QERKERERQE	QERKRQLELE	KQLEKQRELE
430	440	450	460	470	480
RQREEERRKE	IERREAAKRE	LERQRQLEWE	RNRRQELLNQ	RNKEQEDIVV	LKAKKKTLEF
490	500	510	520	530	540
ELEALNDKKH	QLEGKLQDIR	CRLTTQRQEI	ESTNKSRELR	IAEITHLQQQ	LQESQQMLGR
550	560	570	580	590	600
LIPEKQILND	QLKQVQQNSL	HRDSLVTLKR	ALEAKELARQ	HLRDQLDEVE	KETRSKLQEI
610	620	630	640	650	660
DIFNNQLKEL	REIHNKQQLQ	KQKSMEAERL	KQKEQERKII	ELEKQKEEAQ	RRAQERDKQW
670	680	690	700	710	720
LEHVQQEDEH	QRPRKLHEEE	KLKREESVKK	KDGEEKGKQE	AQDKLGRLFH	QHQEPAKPAV
730	740	750	760	770	780
QAPWSTAEKG	PLTISAQENV	KVVYYRALYP	FESRSHDEIT	IQPGDIVMVK	GEWVDESQTG
790	800	810	820	830	840
EPGWLGGELK	GKTGWFPANY	AEKIPENEVP	APVKPVTDST	SAPAPKLALR	ETPAPLAVTS
850	860	870	880	890	900
SEPSTTPNNW	ADFSSTWPTS	TNEKPETDNW	DAWAAQPSLT	VPSAGQLRQR	SAFTPATATG
910	920	930	940	950	960
SSPSPVLGQG	EKVEGLQAQA	LYPWRAKKDN	HLNFNKNDVI	TVLEQQDMWW	FGEVQGQKGW
970	980	990	1000	1010	1020
FPKSYVKLIS	GPIRKSTSMD	SGSSESPASL	KRVASPAAKP	VVSGEEFIAM	YTYESSEQGD
1030	1040	1050	1060	1070	1080
LTFQQGDVIL	VTKKDGDWWT	GTVGDKAGVF	PSNYVRLKDS	EGSGTAGKTG	SLGKKPEIAQ
1090	1100	1110	1120	1130	1140
VIASYTATGP	EQLTLAPGQL	ILIRKKNPGG	WWEGELQARG	KKRQIGWFPA	NYVKLLSPGT
1150	1160	1170	1180	1190	1200
SKITPTEPPK	STALAAVCQV	IGMYDYTAQN	DDELAFNKGQ	IINVLNKEDP	DWWKGEVNGQ
1210	1220	1230	1240	1250	1260
VGLFPSNYVK	LTTDMDPSQQ	WCSDLHLLDM	LTPTERKRQG	YIHELIVTEE	NYVNDLQLVT
1270	1280	1290	1300	1310	1320
EIFQKPLMES	ELLTEKEVAM	IFVNWKELIM	CNIKLLKALR	VRKKMSGEKM	PVKMIGDILS
1330	1340	1350	1360	1370	1380
AQLPHMQPYI	RFCSRQLNGA	ALIQQKTDEA	PDFKEFVKRL	AMDPRCKGMP	LSSFILKPMQ
1390	1400	1410	1420	1430	1440
RVTRYPLIIK	NILENTPENH	PDHSHLKHAL	EKAEELCSQV	NEGVREKENS	DRLEWIQAHV
1450	1460	1470	1480	1490	1500
QCEGLSEQLV	FNSVTNCLGP	RKFLHSGKLY	KAKSNKELYG	FLFNDFLLLT	QITKPLGSSG
1510	1520	1530	1540	1550	1560
TDKVFSPKSN	LQYKMYKTPI	FLNEVLVKLP	TDPSGDEPIF	HISHIDRVYT	LRAESINERT
1570	1580	1590	1600	1610	1620
AWVQKIKAAS	ELYIETEKKK	REKAYLVRSQ	RATGIGRLMV	NVVEGIELKP	CRSHGKSNPY
1630	1640	1650	1660	1670	1680
CEVTMGSQCH	ITKTIQDTLN	PKWNSNCQFF	IRDLEQEVLC	ITVFERDQFS	PDDFLGRTEI
1690	1700	1710	1720
RVADIKKDQG	SKGPVTKCLL	LHEVPTGEIV	VRLDLQLFDE	P