AiPD: Autoinhibited Protein Database

Q8TBC3

Gene name	SHKBP1 (SB1)
Protein name	SH3KBP1-binding protein 1
Names	SETA-binding protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:92799
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

601-681 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

601-681 (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 Q8TBC3

Entry ID	Method	Resolution	Chain	Position	Source
4CRH	X-ray	172 A	A	18-120	PDB
AF-Q8TBC3-F1	Predicted				AlphaFoldDB

579 variants for Q8TBC3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA405920621 rs1218578436	2	A>V		No	ClinGen TOPMed gnomAD
rs1259053656 CA405920626	3	A>E		No	ClinGen gnomAD
CA405920632 rs773314360	4	A>E		No	ClinGen ExAC TOPMed
CA9447068 rs773314360	4	A>G		No	ClinGen ExAC TOPMed
rs1320480240 CA405920637	5	A>D		No	ClinGen gnomAD
CA405920639 rs1320480240	5	A>V		No	ClinGen gnomAD
rs762925932 CA9447069	6	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1272754837 CA405920644	6	T>I		No	ClinGen gnomAD
rs751753767 CA9447071	7	A>V		No	ClinGen ExAC gnomAD
CA308429006 rs1038255259	8	A>D		No	ClinGen TOPMed gnomAD
rs1038255259 CA405920654	8	A>V		No	ClinGen TOPMed gnomAD
rs1189016492 CA405920661	9	E>D		No	ClinGen gnomAD
CA405920671 rs1433875322	11	V>F		No	ClinGen TOPMed
CA308429009 rs941329090	11	V>G		No	ClinGen Ensembl
CA9447075 rs756462075	12	P>L		No	ClinGen ExAC gnomAD
rs544781931 CA308429013	13	S>R		No	ClinGen 1000Genomes
CA308429014 rs994156380	13	S>T		No	ClinGen TOPMed
rs1466973588 CA405920686	14	R>Q		No	ClinGen gnomAD
CA9447077 rs778130163	14	R>W		No	ClinGen ExAC gnomAD
rs1172973871 CA405920699	16	P>L		No	ClinGen gnomAD
CA9447080 rs779390953	17	P>S		No	ClinGen ExAC gnomAD
CA405920706 rs1294715893	18	G>R		No	ClinGen gnomAD
rs1399887858 CA405920722	20	V>F		No	ClinGen gnomAD
CA405920737 rs747797304	22	H>L		No	ClinGen ExAC gnomAD
rs747797304 CA9447084	22	H>R		No	ClinGen ExAC gnomAD
rs925915537 CA308429024	28	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs773199027 CA9447086	29	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1422666551 CA405920804	31	S>G		No	ClinGen TOPMed
CA405920825 rs1443748707	34	R>C		No	ClinGen gnomAD
rs1433362215 CA405920828	34	R>L		No	ClinGen gnomAD
CA405920865 rs1450620980	40	I>V		No	ClinGen gnomAD
rs764772269 CA9447107	42	D>N		No	ClinGen ExAC TOPMed gnomAD
CA308429121 rs948020275	43	S>A		No	ClinGen TOPMed gnomAD
CA9447110 COSM1265538 rs775700990	44	F>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767470501	45	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA405920896 rs1196468519	45	F>I		No	ClinGen gnomAD
rs867341104 CA308429125	45	F>Y		No	ClinGen Ensembl
CA9447112 rs764343429	47	S>G		No	ClinGen ExAC gnomAD
rs1209742361 CA405920948	51	G>E		No	ClinGen TOPMed
rs150564286 CA405920946 CA9447135	51	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	59	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs962513443 CA308429155	61	G>A		No	ClinGen Ensembl
CA308429153 rs1017938469	61	G>R		No	ClinGen Ensembl
TCGA novel	63	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446876998 CA405921043	63	I>V		No	ClinGen TOPMed gnomAD
rs1219459654 CA405921069	66	D>N		No	ClinGen TOPMed gnomAD
CA9447164 rs749998403	67	R>G		No	ClinGen ExAC gnomAD
CA405921078 rs749998403	67	R>W		No	ClinGen ExAC gnomAD
rs1568387144 CA405921105	70	T>A		No	ClinGen Ensembl
CA9447166 rs779647962	72	F>S		No	ClinGen ExAC gnomAD
rs746964118 CA9447167	73	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs371739369 CA9447168	74	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	74	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781075771 CA9447169	75	I>L		No	ClinGen ExAC gnomAD
rs1599835682 CA405921156	76	L>P		No	ClinGen Ensembl
CA405921168 rs1381027173	77	N>K		No	ClinGen gnomAD
TCGA novel	77	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405921188 COSM996742 rs1420192704	80	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9447171 rs769714062	80	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9447172 rs138429716	81	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA405921204 rs1171649698	82	K>E		No	ClinGen TOPMed
rs1479620739 CA405921220	83	E>D		No	ClinGen TOPMed
CA405921232 rs1395223979	85	D>G		No	ClinGen gnomAD
CA9447174 rs745862831	86	P>S		No	ClinGen ExAC gnomAD
rs1211760211 CA405921268	88	G>D		No	ClinGen gnomAD
CA405921270 rs1211760211	88	G>V		No	ClinGen gnomAD
rs1192598593 COSM389911 CA405921287	91	G>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs780509986 CA9447216	91	G>D		No	ClinGen ExAC gnomAD
rs1192598593 CA405921285	91	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	92	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162224408 CA405921314	95	L>P		No	ClinGen gnomAD
CA405921320 rs867695405	96	H>L		No	ClinGen gnomAD
CA308429334 rs867695405	96	H>R		No	ClinGen gnomAD
CA308429337 rs769111493	99	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9447220 rs116299645	103	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9447221 rs529875675	103	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1227001727 CA405921385	106	L>P		No	ClinGen gnomAD
rs1227001727 CA405921386	106	L>R		No	ClinGen gnomAD
CA9447239 rs773904593	108	R>C		No	ClinGen ExAC TOPMed
rs146085841 CA9447240	108	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207680727 CA405921409	109	R>C		No	ClinGen TOPMed gnomAD
rs1255206421 CA405921413	109	R>L		No	ClinGen gnomAD
rs1206096792 CA405921417	110	L>R		No	ClinGen TOPMed
TCGA novel	112	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771749596 CA9447241	112	L>V		No	ClinGen ExAC gnomAD
CA405921433 rs1338936061	113	R>*		No	ClinGen TOPMed
rs1268661989 CA405921434	113	R>Q		No	ClinGen TOPMed
CA405921469 rs775183316	118	R>*		No	ClinGen ExAC gnomAD
rs983671891 CA308429388	118	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA308429391 rs140043149	119	S>Y		No	ClinGen ESP TOPMed gnomAD
rs760412120 CA9447244	122	G>R		No	ClinGen ExAC gnomAD
CA405921503 rs763912330	123	N>K		No	ClinGen ExAC TOPMed gnomAD
CA405921509 rs1471186077	124	V>G		No	ClinGen gnomAD
rs776441207 CA9447246	126	F>Y		No	ClinGen ExAC gnomAD
CA9447247 rs761755965	127	N>D		No	ClinGen ExAC gnomAD
rs114588324 CA405921526	127	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9447248 rs114588324	127	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373215939 CA9447249	128	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373215939 CA405921529	128	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217426376 CA405921532	128	G>V		No	ClinGen gnomAD
CA9447250 rs758523211	129	Y>S		No	ClinGen ExAC gnomAD
rs531825444 CA9447252	131	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405921549 rs531825444	131	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1457092921 CA405921553	132	P>S		No	ClinGen gnomAD
CA9447254 rs781561260	133	P>R		No	ClinGen ExAC gnomAD
CA405921577 rs1378317704	134	V>A		No	ClinGen TOPMed
CA9447281 rs768422091	136	P>Q		No	ClinGen ExAC gnomAD
rs1163630261 CA405921596	137	V>A		No	ClinGen gnomAD
rs146113659 CA9447283	139	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780678344 CA9447282	139	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	140	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9447285 rs77142263	140	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751206348 CA9447284	140	R>W		No	ClinGen ExAC TOPMed gnomAD
CA405921622 rs774556159	142	R>P		No	ClinGen ExAC gnomAD
CA9447288 rs774556159	142	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9447286 rs373689117	142	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	144	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164227631 CA405921636	144	S>N		No	ClinGen TOPMed gnomAD
rs1164227631 CA405921635	144	S>T		No	ClinGen TOPMed gnomAD
rs759498511 CA9447289	146	V>A		No	ClinGen ExAC gnomAD
CA405921645 rs1325034276	146	V>L		No	ClinGen TOPMed
rs1568388842 CA405921649	147	G>R		No	ClinGen Ensembl
CA9447290 rs541513419	147	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1338278581 CA405921694	154	R>Q		No	ClinGen gnomAD
CA9447292 rs148586982	154	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315086575 CA405921698	155	P>A		No	ClinGen gnomAD
rs1384323356 CA405921702	155	P>L		No	ClinGen gnomAD
rs1328941398 CA405921703	156	A>T		No	ClinGen TOPMed
CA405921717 rs1352114088	158	V>F		No	ClinGen gnomAD
TCGA novel	158	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405921716 rs1352114088	158	V>L		No	ClinGen gnomAD
CA9447296 rs757844991	159	R>*		No	ClinGen ExAC TOPMed gnomAD
rs757844991 CA9447297	159	R>G		No	ClinGen ExAC TOPMed gnomAD
rs367595564 CA9447298	159	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780922036 CA9447300	160	R>Q		No	ClinGen ExAC gnomAD
rs528372766 CA9447299	160	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM1393839 rs755985556 CA9447302	163	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA405921757 rs1454260102	165	P>A		No	ClinGen gnomAD
rs1399840003 CA405921767	166	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA405921766 rs1399840003	166	P>R		No	ClinGen gnomAD
rs116333808 CA9447306	167	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116333808 CA9447307	167	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1440052543 CA405921789	169	G>A		No	ClinGen TOPMed
CA9447309 rs772003289	170	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775696491 CA9447310	171	A>T		No	ClinGen ExAC gnomAD
rs781559180 CA308429826	175	G>S		No	ClinGen gnomAD
rs764290507 CA9447313	176	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9447314 rs764290507	176	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9447315 rs762052848	176	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1344729252 CA405921891	177	M>I		No	ClinGen gnomAD
CA308429831 rs868339370	177	M>T		No	ClinGen Ensembl
rs765822185 CA9447317	179	D>G		No	ClinGen ExAC gnomAD
rs1199325435 CA405921911	179	D>H		No	ClinGen TOPMed
CA9447318 rs368098495	180	E>D		No	ClinGen ESP ExAC gnomAD
CA405921953 rs1599839199	182	T>P		No	ClinGen Ensembl
CA405921976 rs1251365136	183	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1198025192 CA405921969	183	P>S		No	ClinGen gnomAD
rs1183860882 CA405921983	184	P>S		No	ClinGen gnomAD
CA9447320 rs767076064	186	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9447322 COSM712856 rs145900196	188	G>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA405922104 rs1599839394	190	P>S		No	ClinGen Ensembl
CA308429861 rs1037265096	193	P>L		No	ClinGen TOPMed gnomAD
CA405922150 rs1037265096	193	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	193	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9447343 rs753388901	193	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1309552298 CA405922204	197	R>C		No	ClinGen TOPMed gnomAD
rs201436190 CA9447345	197	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1223171887 CA405922223	199	V>M		No	ClinGen gnomAD
CA405922261 rs1487179509	201	G>A		No	ClinGen gnomAD
CA9447346 rs750222186	204	N>D		No	ClinGen ExAC gnomAD
TCGA novel	205	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9447347 rs190370595	206	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114918214 CA405922355	207	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs114918214 CA9447348	207	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405922373 rs1165765262	208	V>A		No	ClinGen TOPMed
rs1406870413 CA405922380	209	A>P		No	ClinGen TOPMed
CA405922387 rs1384108545	209	A>V		No	ClinGen gnomAD
rs1414303042 CA405922392	210	Y>H		No	ClinGen TOPMed
rs1471748944 CA405922410	211	T>A		No	ClinGen TOPMed
rs1453488861 CA405922420	211	T>I		No	ClinGen TOPMed gnomAD
CA9447351 rs768677011	212	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	214	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9447353 rs748254712	216	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1488579981 CA405922817	225	W>*		No	ClinGen TOPMed
CA9447377 rs772695758	226	Q>*		No	ClinGen ExAC gnomAD
rs1599839743 CA405922864	228	V>G		No	ClinGen Ensembl
rs1245774127 CA405922902	230	S>F		No	ClinGen TOPMed
CA308429905 rs991607949	231	S>R		No	ClinGen gnomAD
rs776073558 CA9447379	232	P>L		No	ClinGen ExAC gnomAD
rs761357091 CA9447380	233	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761357091 CA405922941	233	R>G		No	ClinGen ExAC TOPMed gnomAD
rs575647182 CA9447381	233	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575647182 CA9447382	233	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761357091 CA405922936	233	R>S		No	ClinGen ExAC TOPMed gnomAD
rs762771007 CA9447383	234	L>V		No	ClinGen ExAC gnomAD
CA405922997 rs1221386194	236	W>*		No	ClinGen gnomAD
CA9447386 rs141174643	238	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9447387 rs767454720	239	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs557717062 CA308429921	240	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs146931471 CA9447388	240	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9447391 rs137860505	242	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777888540 CA9447390	242	A>T		No	ClinGen ExAC gnomAD
rs137860505 CA405923119	242	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA633466810 rs1199089648	243	L>P		No	ClinGen gnomAD
rs1419151770 CA405923201	246	R>Q		No	ClinGen TOPMed gnomAD
CA9447394 rs79748402	246	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405923243 rs1599839863	248	H>R		No	ClinGen Ensembl
rs553004505 CA9447397	249	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs998390449 CA308429929	251	A>P		No	ClinGen TOPMed
rs772748423 CA9447399	251	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9447400 rs762538613	253	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1189162026 CA405923355	253	G>R		No	ClinGen TOPMed
rs1599839905 CA405923419	255	H>Q		No	ClinGen Ensembl
rs574515196 CA9447401	255	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA405923429 rs1268030067	256	D>H		No	ClinGen gnomAD
CA405923485 rs1599839921	258	M>R		No	ClinGen Ensembl
CA9447404 rs767373464	259	V>A		No	ClinGen ExAC TOPMed gnomAD
CA405923521 rs767373464	259	V>G		No	ClinGen ExAC TOPMed gnomAD
CA308429940 rs889947007	261	A>T		No	ClinGen TOPMed
CA9447406 rs541787615	261	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs756151428 CA9447407	262	A>G		No	ClinGen ExAC gnomAD
CA405923592 rs757621526	264	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753952010 COSM712855 CA9447409	264	G>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9447410 rs757621526	264	G>V		No	ClinGen ExAC gnomAD
rs746284828 CA9447412	266	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780461416 CA9447415	270	W>R		No	ClinGen ExAC gnomAD
CA405923702 rs1259690625	272	L>P		No	ClinGen gnomAD
rs747487078 CA9447417	273	Q>*		No	ClinGen ExAC gnomAD
CA9447416 rs747487078	273	Q>E		No	ClinGen ExAC gnomAD
CA9447419 rs114925319	274	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9447418 rs114925319	274	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9447421 rs773941088	276	G>A		No	ClinGen ExAC gnomAD
CA405923775 rs771832570	277	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1379917394 CA405923783	277	G>D		No	ClinGen TOPMed gnomAD
CA9447423 rs771832570	277	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9447424 rs775302886	278	G>C		No	ClinGen ExAC gnomAD
CA405923786 rs775302886	278	G>S		No	ClinGen ExAC gnomAD
CA9447425 rs760722549	279	S>C		No	ClinGen ExAC gnomAD
CA308429971 rs955977829	279	S>T		No	ClinGen TOPMed
rs1203695526 CA405923809	280	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771609019 CA9447441	282	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1171335240 CA405923838	282	G>R		No	ClinGen TOPMed
rs760358668 CA308430456	283	V>F		No	ClinGen ExAC gnomAD
CA9447443 rs760358668	283	V>L		No	ClinGen ExAC gnomAD
rs776662272 CA9447446	288	V>M		No	ClinGen ExAC
rs1240324909 CA405924141	289	P>S		No	ClinGen TOPMed
rs143168987 CA308430464	290	V>M		No	ClinGen ESP
CA405924170 rs1363217220	291	E>K		No	ClinGen gnomAD
rs750691772 CA9447449	296	V>I	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA405924269 rs1403677591	297	G>E		No	ClinGen gnomAD
CA9447451 rs772974269	297	G>R		No	ClinGen ExAC TOPMed gnomAD
CA405924337 rs1312540698	302	A>T		No	ClinGen TOPMed
CA9447453 rs755246799	305	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA405924406 rs1197192009	306	T>I		No	ClinGen Ensembl
CA308430479 rs1049793310	308	R>C		No	ClinGen gnomAD
rs753132257 CA9447456	308	R>H		No	ClinGen ExAC TOPMed gnomAD
CA405924446 rs753132257	308	R>L		No	ClinGen ExAC TOPMed gnomAD
CA405924466 rs1337517531	310	G>R		No	ClinGen gnomAD
rs376299310 CA9447459	315	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs771795524 CA9447460	316	T>S		No	ClinGen ExAC gnomAD
CA9447462 rs746845391	318	H>N		No	ClinGen ExAC gnomAD
rs1490120452 CA405925795	321	V>D		No	ClinGen gnomAD
rs1289563730 CA405925788	321	V>I		No	ClinGen gnomAD
rs1187276095 CA405925843	323	E>V		No	ClinGen TOPMed
CA405925871 rs1599842407	324	V>G		No	ClinGen Ensembl
CA405925884 rs1286928674	325	Q>*		No	ClinGen TOPMed
CA9447475 rs764552228	325	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA405925926 rs1467804021	327	I>V		No	ClinGen TOPMed gnomAD
rs749999538 CA9447476	328	T>A		No	ClinGen ExAC gnomAD
rs374250744 CA405926011	330	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs757799784 CA9447477	330	Y>C		No	ClinGen ExAC gnomAD
rs377642984 CA9447480	332	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA308430837 rs925448266	332	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs865869781 CA308430851	333	A>T		No	ClinGen Ensembl
rs747954943 CA9447482	334	G>A		No	ClinGen ExAC gnomAD
rs1381899384 CA405926145	339	L>R		No	ClinGen gnomAD
rs1312826006 CA405926212	344	G>D		No	ClinGen gnomAD
CA9447486 rs770846370	344	G>S		No	ClinGen ExAC TOPMed gnomAD
CA405926219 rs1599842509	345	S>P		No	ClinGen Ensembl
rs759811484 CA405926230	346	I>L		No	ClinGen ExAC TOPMed gnomAD
rs759811484 CA9447488	346	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9447490 rs775870375	347	Y>*		No	ClinGen ExAC gnomAD
COSM3389033 rs767721411 CA9447489	347	Y>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC
CA405926273 rs764685042	348	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA9447491 rs545090050	348	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9447493 COSM996745 rs754262378	349	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs774864229 CA405926288	350	D>N		No	ClinGen Ensembl
rs774864229 CA308430884	350	D>Y		No	ClinGen Ensembl
rs1450366188 CA405926443	357	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs114936133 CA9447516	358	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9447514 rs1555724330	358	M>V		No	ClinGen Ensembl
TCGA novel	366	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405926579 rs1568391020	367	E>D		No	ClinGen Ensembl
CA308430975 rs150827358	367	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA405926602 rs1330726556	369	Y>C		No	ClinGen gnomAD
rs752327703 CA9447518	370	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA308430976 rs532106270	370	R>W		No	ClinGen gnomAD
CA405926634 rs1231600289	371	D>E		No	ClinGen gnomAD
rs1211698510 CA405926623	371	D>N		No	ClinGen gnomAD
CA9447522 rs753661337	373	A>G		No	ClinGen ExAC TOPMed gnomAD
CA405926648 rs1183285078	373	A>T		No	ClinGen gnomAD
CA9447521 rs753661337	373	A>V		No	ClinGen ExAC TOPMed gnomAD
rs996655778 CA308430998	375	D>V		No	ClinGen TOPMed gnomAD
CA405926699 rs1430326596	376	G>A		No	ClinGen gnomAD
CA308431001 rs879169192	377	V>G		No	ClinGen Ensembl
rs772101142 CA9447525	379	A>D		No	ClinGen ExAC gnomAD
CA405926738 rs1461451131	380	L>F		No	ClinGen gnomAD
CA405926811 rs1486978125	385	T>A		No	ClinGen gnomAD
rs747176655 CA9447528	386	P>A		No	ClinGen ExAC gnomAD
rs1568391111 CA405926833	387	K>E		No	ClinGen Ensembl
CA9447529 rs543345692	387	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA405926858 rs1220394185	389	S>R		No	ClinGen gnomAD
rs1241808042 CA405926986	392	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs938618367 CA308432959	393	N>S		No	ClinGen gnomAD
rs1391873504 CA405927008	395	I>T		No	ClinGen gnomAD
rs116783613 CA308432960	395	I>V		No	ClinGen 1000Genomes gnomAD
CA9447552 rs773864318	396	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM1393842 rs568981139 CA9447554	398	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs564487177 CA308432974	399	Y>C		No	ClinGen TOPMed gnomAD
CA405927040 rs1416329018	400	G>D		No	ClinGen gnomAD
rs775178539 CA9447555	402	S>G		No	ClinGen ExAC gnomAD
CA405927053 rs1344243965	402	S>N		No	ClinGen gnomAD
CA405927061 rs1568392949	403	S>L		No	ClinGen Ensembl
TCGA novel	405	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405927076 rs1381179306	406	V>L		No	ClinGen gnomAD
rs1381179306 CA405927074	406	V>M		No	ClinGen gnomAD
CA9447558 rs763675843	407	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1681042 CA405927081 rs1245848184	407	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA405927086 rs1358898200	408	V>F		No	ClinGen gnomAD
rs1222486142 CA405927092	409	I>F		No	ClinGen gnomAD
TCGA novel	413	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM439544 CA9447561 rs761519156	414	E>D	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750207030 CA9447563	416	V>A		No	ClinGen ExAC TOPMed gnomAD
CA308432999 rs750207030	416	V>G		No	ClinGen ExAC TOPMed gnomAD
COSM139141 CA9447565 rs139235592	418	S>L	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9447564 rs139235592	418	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs962708642 CA308433017	421	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9447568 rs781304601	422	L>P		No	ClinGen ExAC gnomAD
rs199728404 CA9447569	425	T>A		No	ClinGen ExAC TOPMed gnomAD
rs778345724 CA9447571	427	T>N		No	ClinGen ExAC gnomAD
CA308433023 rs371175834	428	V>A		No	ClinGen ESP TOPMed
CA9447572 rs749636815	430	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9447573 rs771613975 COSM996749	430	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200227067 CA9447575	436	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405927340 rs1279359672	438	L>M		No	ClinGen gnomAD
TCGA novel	439	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405927362 rs1295070818	439	S>L		No	ClinGen TOPMed
CA9447577 rs776161649	441	K>E		No	ClinGen ExAC gnomAD
CA9447578 rs761586399 CA405927398	441	K>N		No	ClinGen ExAC gnomAD
CA9447579 rs764866882	446	V>I		No	ClinGen ExAC gnomAD
CA9447606 rs764440290	449	D>N		No	ClinGen ExAC gnomAD
rs1206974099 CA405927507	451	N>S		No	ClinGen gnomAD
CA9447607 rs754046552	453	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9447608 rs754046552	453	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9447609 rs779392574	454	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA308435661 rs750355232	454	R>W		No	ClinGen Ensembl
rs980991081 CA308435662	456	W>*		No	ClinGen Ensembl
CA9447610 rs115687327	457	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405927558 rs1433638245	460	R>C		No	ClinGen TOPMed gnomAD
rs1187396277 CA405927559	460	R>H		No	ClinGen gnomAD
CA405927581 rs1231523824	463	G>D		No	ClinGen TOPMed
CA405927576 rs1438736215	463	G>S		No	ClinGen TOPMed
rs148781309 CA308435684	470	G>D		No	ClinGen ESP
CA405927625 rs1599847374 COSM474758	470	G>S	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA405927644 rs951358614	473	P>Q		No	ClinGen TOPMed gnomAD
rs951358614 CA308435688	473	P>R		No	ClinGen TOPMed gnomAD
CA9447614 rs769257591	475	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9447616 rs748994274	481	A>S		No	ClinGen ExAC gnomAD
CA405927697 rs1343546624	482	L>V		No	ClinGen gnomAD
CA9447618 rs774239601	484	S>L		No	ClinGen ExAC TOPMed gnomAD
rs774239601 CA405927712	484	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1568394190 CA405927714	485	A>T		No	ClinGen Ensembl
rs1599847456 CA405927719	485	A>V		No	ClinGen Ensembl
rs965217023 CA308435726	486	D>G		No	ClinGen TOPMed
CA405927729 rs1568394221	487	G>E		No	ClinGen Ensembl
rs775526395 CA9447621	487	G>R		No	ClinGen ExAC gnomAD
CA405927734 rs1348125721	488	H>Y		No	ClinGen gnomAD
rs551067055 CA9447623	489	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs753955774 CA9447624 COSM84528	490	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs762192567 CA405927759	492	S>C		No	ClinGen ExAC
CA9447625 rs762192567	492	S>G		No	ClinGen ExAC
rs765348686 CA9447626	492	S>N		No	ClinGen ExAC TOPMed gnomAD
rs765348686 CA405927760	492	S>T		No	ClinGen ExAC TOPMed gnomAD
CA405927769 rs1256146643	493	A>V		No	ClinGen gnomAD
CA9447653 rs753365956	501	G>S		No	ClinGen ExAC TOPMed gnomAD
rs200457949 CA9447656	503	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200457949 CA9447655	503	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9447654 rs377540823	503	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs146947781 CA9447658 COSM1225660	505	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA308435939 VAR_036714 rs17855499	507	Q>L		No	ClinGen UniProt Ensembl dbSNP
CA9447660 rs746769548	508	V>M		No	ClinGen ExAC TOPMed gnomAD
rs920742732 CA308435975	514	V>M		No	ClinGen TOPMed
rs768764327 CA9447661	516	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1428798353 CA405927939	517	A>D		No	ClinGen TOPMed gnomAD
CA405927934 rs1241536382	517	A>T		No	ClinGen gnomAD
CA405927937 rs1428798353	517	A>V		No	ClinGen TOPMed gnomAD
rs776664094 CA9447662	520	L>P		No	ClinGen ExAC gnomAD
CA308435986 rs912348465	522	V>M		No	ClinGen gnomAD
rs140680179 CA9447666	523	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs766552295 COSM1393843 CA9447667	523	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA405927979 rs1275091350	524	L>V		No	ClinGen gnomAD
rs1346490476 CA405927988	525	S>*		No	ClinGen TOPMed
rs1346490476 CA405927989	525	S>L		No	ClinGen TOPMed
rs774743388 CA9447668	526	S>P		No	ClinGen ExAC gnomAD
CA405927996 rs1229534007	527	T>A		No	ClinGen gnomAD
rs201616547 CA9447671	530	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9447672 rs150176692	530	R>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA9447670 rs201616547 COSM3225889	530	R>W	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA9447694 rs771161086	531	V>A		No	ClinGen ExAC TOPMed gnomAD
CA405928030 rs1323751870	531	V>L		No	ClinGen gnomAD
CA405928045 rs1227086208	533	S>C		No	ClinGen TOPMed gnomAD
rs1227086208 CA405928046	533	S>F		No	ClinGen TOPMed gnomAD
rs759897287 CA9447696	534	V>M		No	ClinGen ExAC TOPMed gnomAD
CA308436725 rs561324749	535	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA405928053 rs561324749	535	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA9447697 rs140367355	535	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162447649 CA405928061	536	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs373184078 CA308436747	537	V>M		No	ClinGen ESP TOPMed gnomAD
CA308436767 rs376159277	539	G>C		No	ClinGen ESP TOPMed gnomAD
CA405928075 rs376159277	539	G>S		No	ClinGen ESP TOPMed gnomAD
CA405928085 rs1599849545	540	S>L		No	ClinGen Ensembl
CA405928093 rs1388402981	542	T>A		No	ClinGen TOPMed
CA9447702 rs571526247	542	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762505117 CA9447704	543	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1599849580 CA405928097	543	T>P		No	ClinGen Ensembl
rs751193066 CA9447706	545	F>L		No	ClinGen ExAC gnomAD
CA405928112 rs1186276536	545	F>S		No	ClinGen TOPMed
rs370006868 CA9447708	547	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA405928124 rs370006868	547	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754837354 CA9447707	547	V>M		No	ClinGen ExAC gnomAD
rs1193327126 CA405928139	550	C>R		No	ClinGen TOPMed
CA405928141 rs1450277322	550	C>Y		No	ClinGen TOPMed
rs1196932689 CA405928146	551	E>K		No	ClinGen TOPMed
rs1286191690 CA405928165	553	S>C		No	ClinGen gnomAD
CA9447712 rs777714313	554	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9447711 rs756050777	554	R>W		No	ClinGen ExAC TOPMed gnomAD
CA405928170 rs1179564283	555	R>Q		No	ClinGen gnomAD
rs749355508 CA9447713	555	R>W		No	ClinGen ExAC gnomAD
TCGA novel	557	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779118823 CA9447715	557	G>S		No	ClinGen ExAC TOPMed gnomAD
CA405928191 rs1400638301	559	R>Q		No	ClinGen gnomAD
CA9447716 rs565463587	559	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1335502626 CA405928195	560	P>A		No	ClinGen gnomAD
CA9447720 rs373471246	561	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs536345404 CA9447721	561	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9447719 rs373471246	561	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA405928204 rs1351356238	562	R>C		No	ClinGen gnomAD
CA405928203 rs1351356238	562	R>G		No	ClinGen gnomAD
rs762560064 COSM996750 CA9447722	562	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs762560064 CA405928206	562	R>L		No	ClinGen ExAC gnomAD
CA405928240 rs1199785762	568	Q>*		No	ClinGen gnomAD
rs1279329645 CA405928246	569	A>T		No	ClinGen TOPMed gnomAD
CA9447724 rs773988808	569	A>V		No	ClinGen ExAC gnomAD
rs144717440 CA9447726	571	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376366359 CA9447727	572	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183581855 CA405928288	575	M>T		No	ClinGen gnomAD
CA405928296 rs1477233536	576	W>*		No	ClinGen TOPMed
rs1033482344 CA308436860	578	L>V		No	ClinGen Ensembl
rs1375403419 CA405928317	579	T>S		No	ClinGen gnomAD
rs536953428 CA9447729	581	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1612273 rs536953428 CA9447730	581	A>T	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs370816082 CA9447731	583	D>Y		No	ClinGen ESP ExAC gnomAD
CA9447733 rs201537637	584	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1371358051 CA405928353	585	L>F		No	ClinGen TOPMed gnomAD
rs780274261 CA405928357	586	G>R		No	ClinGen ExAC TOPMed gnomAD
rs780274261 CA9447735	586	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1342608262 CA405928366	587	Q>R		No	ClinGen TOPMed
CA9447736 rs200531920	588	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330592515 CA405928372	588	A>S		No	ClinGen gnomAD
CA405928374 rs200531920	588	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769000368 CA405928379	589	P>L		No	ClinGen ExAC gnomAD
rs769000368 CA9447737	589	P>R		No	ClinGen ExAC gnomAD
CA9447755 rs747203565	590	A>G		No	ClinGen ExAC gnomAD
CA9447756 rs148094508	594	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs374431519 CA9447759	596	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	602	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405928482 rs1319734450	603	E>K		No	ClinGen gnomAD
rs745405528 CA9447762	604	H>Q		No	ClinGen ExAC gnomAD
rs1397072034 CA882247550	605	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs771564603 CA9447763	607	L>R		No	ClinGen ExAC gnomAD
CA405928520 rs1599850361	608	A>G		No	ClinGen Ensembl
COSM4140658 CA9447765 rs760417133	609	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9447768 COSM295768 rs141834970	610	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs368867252 CA9447767	610	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs992048128 CA308437108	611	A>V		No	ClinGen TOPMed
rs750319269 CA9447770	612	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	614	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766526713 CA9447772	617	W>C		No	ClinGen ExAC gnomAD
CA9447771 rs762962491	617	W>L		No	ClinGen ExAC gnomAD
CA308437130 rs974824953	618	G>A		No	ClinGen TOPMed
CA9447773 rs751558460	618	G>S		No	ClinGen ExAC gnomAD
CA308437140 rs974824953	618	G>V		No	ClinGen TOPMed
rs1190321680 CA405928591	621	P>A		No	ClinGen gnomAD
CA9447774 rs367968964	621	P>R		No	ClinGen ESP ExAC gnomAD
CA405928605 rs1345676321	623	P>H		No	ClinGen gnomAD
CA405928606 rs1345676321	623	P>L		No	ClinGen gnomAD
CA405928607 rs1345676321	623	P>R		No	ClinGen gnomAD
CA405928610 rs1281998226	624	S>A		No	ClinGen TOPMed
CA308437146 rs922111785	624	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs781546641 CA9447775	625	P>L		No	ClinGen ExAC TOPMed gnomAD
CA405928613 rs1234626530	625	P>T		No	ClinGen TOPMed
CA9447777 rs756510171	626	R>C		No	ClinGen ExAC gnomAD
CA9447778 rs778449711	626	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749858192 CA9447779	627	I>L		No	ClinGen ExAC TOPMed gnomAD
CA9447780 rs749858192	627	I>V		No	ClinGen ExAC TOPMed gnomAD
rs116054173 CA9447781	628	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA405928638 rs78426499	630	T>A		No	ClinGen gnomAD
CA308437198 rs78426499	630	T>P		No	ClinGen gnomAD
CA9447806 rs749019406	633	H>L		No	ClinGen ExAC TOPMed gnomAD
CA9447805 rs773122774	633	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs774120184 CA9447808 COSM1242836	635	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC
CA405928692 rs1419960233	637	S>R		No	ClinGen TOPMed
rs759687875 CA308437353	639	T>I		No	ClinGen ExAC gnomAD
CA9447809 rs759687875	639	T>N		No	ClinGen ExAC gnomAD
rs1599850798 CA405928708	639	T>P		No	ClinGen Ensembl
CA405928726 rs1568395998	642	S>P		No	ClinGen Ensembl
TCGA novel	643	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775683649 CA9447811	645	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761047603 CA9447812	645	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1355929928 CA405928749	646	G>R		No	ClinGen gnomAD
rs375727995 CA9447813	647	S>G		No	ClinGen ESP ExAC gnomAD
CA405928758 rs1292470367 COSM1265536	647	S>I	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs754243787 CA9447814	648	P>S		No	ClinGen ExAC gnomAD
CA405928773 rs186493917	649	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1296119763 CA405928777	650	P>S		No	ClinGen gnomAD
rs555012951 CA9447817	651	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555012951 CA308437401	651	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1275311138 CA405928789	652	Q>R		No	ClinGen gnomAD
rs780718334 CA9447820	654	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	654	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308437425 rs200329685	656	R>Q		No	ClinGen 1000Genomes
CA9447822 rs369139511	656	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs372879165 CA9447823	657	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA405928819 rs1195416247	657	R>H		No	ClinGen TOPMed gnomAD
CA9447824 rs199788239	658	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA9447826 rs116820916	658	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9447827 rs116820916	658	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774176762 CA9447828	659	G>S		No	ClinGen ExAC gnomAD
CA405928834 rs1403217660	661	G>S		No	ClinGen gnomAD
CA405928843 rs1163700635	662	S>N		No	ClinGen gnomAD
rs772133207 COSM1737368 CA9447831	666	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775771654 CA9447832	666	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375997032 CA9447833	667	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9447834 rs141022582	669	E>G		No	ClinGen ESP ExAC TOPMed
CA9447835 rs776677498	670	L>P		No	ClinGen ExAC
CA405928897 rs1172081111	670	L>V		No	ClinGen TOPMed
CA9447836 rs762260137	671	V>M		No	ClinGen ExAC gnomAD
CA405928907 rs758967644	672	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9447839 rs758967644	672	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750766482 CA9447838 COSM284972	672	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766854774 CA9447840	673	S>T		No	ClinGen ExAC gnomAD
TCGA novel	675	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206915794 CA405928942	678	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9447841 rs369472940	678	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA405928943 rs369472940	678	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs748945761 CA9447844	679	R>Q		No	ClinGen ExAC gnomAD
rs755550467 CA9447843	679	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1443368824 CA405928948	680	P>S		No	ClinGen gnomAD
rs1186778262 CA405928974	684	A>S		No	ClinGen gnomAD
TCGA novel	684	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9447848 rs144884009	685	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9447850 rs747117004	686	W>*		No	ClinGen ExAC TOPMed gnomAD
CA405928990 rs1383665894	686	W>C		No	ClinGen TOPMed gnomAD
CA405929012 rs776750059	690	G>C		No	ClinGen ExAC TOPMed gnomAD
rs776750059 CA9447852	690	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9447859 rs371109866	692	G>A		No	ClinGen ESP ExAC gnomAD
CA9447857 rs763242951	692	G>C		No	ClinGen ExAC TOPMed gnomAD
rs763242951 CA9447856	692	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9447858 rs763242951	692	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1226604733 CA405929028	693	T>S		No	ClinGen TOPMed gnomAD
CA308437648 rs372564795	694	P>L		No	ClinGen Ensembl
rs763555949 CA9447860	695	L>F		No	ClinGen ExAC gnomAD
CA405929046 rs1224264294	697	P>T		No	ClinGen TOPMed gnomAD
rs1286340736 CA405929057	698	P>L		No	ClinGen gnomAD
rs1040291857 CA308437654	700	M>V		No	ClinGen TOPMed gnomAD
rs370207614 CA9447861	701	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9447862 rs756919411	703	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1482780523 CA405929095	704	E>K		No	ClinGen TOPMed
rs1410859624 CA405929120	707	F>S		No	ClinGen gnomAD

No associated diseases with Q8TBC3

2 regional properties for Q8TBC3

Type	Name	Position	InterPro Accession
conserved_site	Intermediate filament protein, conserved site	380 - 388	IPR018039
domain	Intermediate filament, rod domain	82 - 394	IPR039008

Functions

		Description
EC Number
Subcellular Localization	Lysosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.

1 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.

2 GO annotations of biological process

Name	Definition
positive regulation of epidermal growth factor receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y597	KCTD3	BTB/POZ domain-containing protein KCTD3	Homo sapiens (Human)	PR
Q6P7W2	Shkbp1	SH3KBP1-binding protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAAATAAEG	VPSRGPPGEV	IHLNVGGKRF	STSRQTLTWI	PDSFFSSLLS	GRISTLKDET
70	80	90	100	110	120
GAIFIDRDPT	VFAPILNFLR	TKELDPRGVH	GSSLLHEAQF	YGLTPLVRRL	QLREELDRSS
130	140	150	160	170	180
CGNVLFNGYL	PPPVFPVKRR	NRHSLVGPQQ	LGGRPAPVRR	SNTMPPNLGN	AGLLGRMLDE
190	200	210	220	230	240
KTPPSPSGQP	EEPGMVRLVC	GHHNWIAVAY	TQFLVCYRLK	EASGWQLVFS	SPRLDWPIER
250	260	270	280	290	300
LALTARVHGG	ALGEHDKMVA	AATGSEILLW	ALQAEGGGSE	IGVFHLGVPV	EALFFVGNQL
310	320	330	340	350	360
IATSHTGRIG	VWNAVTKHWQ	VQEVQPITSY	DAAGSFLLLG	CNNGSIYYVD	VQKFPLRMKD
370	380	390	400	410	420
NDLLVSELYR	DPAEDGVTAL	SVYLTPKTSD	SGNWIEIAYG	TSSGGVRVIV	QHPETVGSGP
430	440	450	460	470	480
QLFQTFTVHR	SPVTKIMLSE	KHLISVCADN	NHVRTWSVTR	FRGMISTQPG	STPLASFKIL
490	500	510	520	530	540
ALESADGHGG	CSAGNDIGPY	GERDDQQVFI	QKVVPSASQL	FVRLSSTGQR	VCSVRSVDGS
550	560	570	580	590	600
PTTAFTVLEC	EGSRRLGSRP	RRYLLTGQAN	GSLAMWDLTT	AMDGLGQAPA	GGLTEQELME
610	620	630	640	650	660
QLEHCELAPP	APSAPSWGCL	PSPSPRISLT	SLHSASSNTS	LSGHRGSPSP	PQAEARRRGG
670	680	690	700
GSFVERCQEL	VRSGPDLRRP	PTPAPWPSSG	LGTPLTPPKM	KLNETSF