AiPD: Autoinhibited Protein Database

Q9UBB9

Gene name	TFIP11 (STIP, HSPC006)
Protein name	Tuftelin-interacting protein 11
Names	Septin and tuftelin-interacting protein 1, STIP-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:24144
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

18-88 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

18-88 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9UBB9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UBB9-F1	Predicted				AlphaFoldDB

658 variants for Q9UBB9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10164927 rs750024709	3	L>M		No	ClinGen ExAC gnomAD
rs767949786 CA10164926	5	H>D		No	ClinGen ExAC TOPMed gnomAD
CA411026482 rs767949786	5	H>N		No	ClinGen ExAC TOPMed gnomAD
RCV000973266 CA10164924 rs34764403	8	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs144137379 CA10164925	8	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411026421 rs1468215587	9	D>H		No	ClinGen TOPMed gnomAD
CA411026423 rs1468215587	9	D>N		No	ClinGen TOPMed gnomAD
CA322846482 rs1034300734	11	E>K		No	ClinGen Ensembl
CA10164922 rs200830209	13	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10164923 rs200830209	13	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10164921 rs199753073	13	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs199753073 CA411026336	13	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411026329 rs769842402	14	I>L		No	ClinGen ExAC TOPMed gnomAD
CA10164920 rs769842402	14	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10164919 rs759824411	18	D>G		No	ClinGen ExAC gnomAD
CA322846448 rs1004139892	19	D>G		No	ClinGen TOPMed
CA411026216 rs1182109941	20	E>K		No	ClinGen TOPMed gnomAD
rs367925543 CA10164913	21	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264227822 CA411026196	21	R>Q		No	ClinGen gnomAD
CA10164912 rs367925543	21	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346584020 CA411026193	22	E>K		No	ClinGen TOPMed gnomAD
CA322846433 rs995586830	24	F>S		No	ClinGen Ensembl
rs1308669331 CA411026148	25	E>Q		No	ClinGen TOPMed
CA411026135 rs1237935394	26	I>L		No	ClinGen gnomAD
rs183323311 CA10164910	27	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755641611 CA10164907	28	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10164908 rs779761689	28	D>Y		No	ClinGen ExAC gnomAD
rs1569167287 CA411026085	29	W>C		No	ClinGen Ensembl
rs750125870 CA10164906	31	L>F		No	ClinGen ExAC TOPMed
rs1381949054 CA411026040	33	N>D		No	ClinGen gnomAD
CA10164904 rs757654959	34	E>V		No	ClinGen ExAC gnomAD
CA411025991 rs1454546740	36	N>K		No	ClinGen gnomAD
rs751929217 CA10164903	36	N>S		No	ClinGen ExAC TOPMed gnomAD
CA411025995 rs751929217	36	N>T		No	ClinGen ExAC TOPMed gnomAD
CA411025974 rs1382363662	38	N>H		No	ClinGen gnomAD
CA10164902 rs764439592	39	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1444332271 CA411025957	39	R>L		No	ClinGen gnomAD
CA411025935 rs1190304154	41	R>C		No	ClinGen gnomAD
CA10164900 rs374920214	41	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418693750 CA411025916	42	H>Q		No	ClinGen TOPMed
CA411025922 rs1186200551	42	H>R		No	ClinGen TOPMed
CA411025863 rs1203991410	46	K>R		No	ClinGen gnomAD
rs1569167221 CA411025845	47	E>G		No	ClinGen Ensembl
TCGA novel	49	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411025804 rs1243513496	50	T>A		No	ClinGen TOPMed gnomAD
rs1358534347 CA411025800	50	T>I		No	ClinGen TOPMed gnomAD
CA10164894 rs774324163	52	G>R		No	ClinGen ExAC gnomAD
rs768551793 CA10164893 CA411025764	53	V>L		No	ClinGen ExAC gnomAD
rs768551793 CA411025766	53	V>M		No	ClinGen ExAC gnomAD
CA10164892 rs749265331	54	W>S		No	ClinGen ExAC gnomAD
CA10164891 rs775532421	55	A>S		No	ClinGen ExAC gnomAD
CA411025732 rs1363240229	56	E>Q		No	ClinGen TOPMed
rs140252083 CA10164890	57	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs745311916 CA10164889	57	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10164887 rs756927674	58	D>E		No	ClinGen ExAC TOPMed gnomAD
CA322846312 rs913609812	59	S>L		No	ClinGen TOPMed gnomAD
rs367676623 CA10164884	62	E>G		No	ClinGen ESP ExAC gnomAD
CA411025631 rs1264686886	65	S>N		No	ClinGen gnomAD
rs1475474755 CA411025623	66	F>S		No	ClinGen TOPMed
CA10164882 rs765671711	69	K>N		No	ClinGen ExAC TOPMed gnomAD
CA411025599 rs189780437	70	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753930422 CA10164880	70	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10164881 rs189780437	70	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190370238 CA10164857	72	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762114447 CA411025126	72	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762114447 CA10164856	72	R>P		No	ClinGen ExAC TOPMed gnomAD
rs775495472 CA10164855	74	Y>C		No	ClinGen ExAC gnomAD
rs151208617 CA10164853	75	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA411025105 rs151208617 COSM726041	75	S>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs991690465 CA322844083	76	A>V		No	ClinGen TOPMed gnomAD
CA10164852 rs776590069	79	N>S		No	ClinGen ExAC TOPMed gnomAD
CA322844080 rs960306921	80	F>S		No	ClinGen Ensembl
rs771774141 CA10164848	83	A>G		No	ClinGen ExAC TOPMed gnomAD
rs143474250 CA10164849	83	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA411025058 rs143474250	83	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143474250 CA10164850	83	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs747765220 CA10164847	84	G>E		No	ClinGen ExAC gnomAD
rs972008409 CA322844069	86	K>Q		No	ClinGen Ensembl
CA411025029 rs1194849259 CA411025028	88	G>R		No	ClinGen TOPMed gnomAD
rs575395467 CA322844049	89	A>P		No	ClinGen 1000Genomes
CA10164844 rs561422389	89	A>V		No	ClinGen ExAC gnomAD
rs113203306 CA322844045	90	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10164843 rs746898318	90	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10164842 rs113203306	90	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10164840 CA411025002 rs781417649	92	E>D		No	ClinGen ExAC gnomAD
rs17853157 CA322844020	95	L>S		No	ClinGen ExAC TOPMed gnomAD
rs17853157 CA10164839	95	L>W		No	ClinGen ExAC TOPMed gnomAD
CA322844013 rs542105729	96	E>K		No	ClinGen 1000Genomes
CA10164838 rs751785239	97	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10164837 rs764971604	98	S>Y		No	ClinGen ExAC
rs1569165207 CA411024957	99	D>E		No	ClinGen Ensembl
CA411024959 rs1446670188	99	D>G		No	ClinGen gnomAD
CA10164835 rs759307498 COSM277662	101	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10164833 rs766397633	104	P>L		No	ClinGen ExAC gnomAD
CA10164834 rs144183934	104	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411024916 rs1229441694	105	V>A		No	ClinGen gnomAD
rs931376453 CA322843998	107	Q>R		No	ClinGen TOPMed
CA322843991 rs760598435	108	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10164830 rs772745770	109	D>N		No	ClinGen ExAC gnomAD
CA411024873 rs1359507799	111	P>R		No	ClinGen gnomAD
rs1448209879 CA411024870	112	K>E		No	ClinGen TOPMed
CA10164829 rs771546969	113	D>E		No	ClinGen ExAC gnomAD
CA10164828 rs761474802	116	P>L		No	ClinGen ExAC gnomAD
CA411024838 rs761474802	116	P>R		No	ClinGen ExAC gnomAD
CA10164827 rs141028033	118	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA322843924 rs987312026	119	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	120	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411024808 rs1569165077	121	T>M		No	ClinGen Ensembl
TCGA novel	122	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258173278 CA411024777	124	N>S		No	ClinGen TOPMed gnomAD
rs1049732876 CA322843657	125	F>L		No	ClinGen TOPMed
CA411024771 rs1219893262	125	F>V		No	ClinGen gnomAD
CA411024766 rs1205055229	126	K>E		No	ClinGen TOPMed
CA10164800 rs770262853	130	K>N		No	ClinGen ExAC gnomAD
rs746401440 CA10164799	131	G>V		No	ClinGen ExAC TOPMed gnomAD
CA411024679 rs931880654	133	A>G		No	ClinGen TOPMed gnomAD
CA411024687 rs1369514935	133	A>T		No	ClinGen gnomAD
CA322843642 rs931880654	133	A>V		No	ClinGen TOPMed gnomAD
CA10164797 rs139526968	134	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	137	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747170866 CA10164796	137	K>R		No	ClinGen ExAC gnomAD
CA322843619 rs376254377	139	F>L		No	ClinGen Ensembl
rs79822310 CA10164795	140	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748293392 CA10164793	140	M>T		No	ClinGen ExAC gnomAD
rs79822310 CA10164794	140	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	141	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322843581 rs988536309	143	G>S		No	ClinGen TOPMed
rs959789539 CA322843579	155	K>Q		No	ClinGen TOPMed
CA10164789 rs750368084	161	G>A		No	ClinGen ExAC gnomAD
rs751148942 CA10164786	163	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763482421 CA411024251	164	P>L		No	ClinGen ExAC gnomAD
rs763482421 CA10164785	164	P>R		No	ClinGen ExAC gnomAD
rs777122131 CA10164781	166	R>P		No	ClinGen ExAC TOPMed gnomAD
rs777122131 CA10164780	166	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs765698955 CA10164782	166	R>W	Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773386803 CA10164777	169	G>R		No	ClinGen ExAC gnomAD
CA411024165 rs1416185932	172	A>T		No	ClinGen TOPMed
rs1286764584 CA411024158	172	A>V		No	ClinGen TOPMed
TCGA novel	174	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411023494 rs1409850952	177	N>K		No	ClinGen TOPMed
rs6005062 VAR_054069 CA322841997	177	N>S		No	ClinGen UniProt Ensembl dbSNP
rs942007614 CA322841975	179	I>V		No	ClinGen TOPMed gnomAD
CA10164750 rs749485260	183	Q>R		No	ClinGen ExAC gnomAD
rs982639912 CA322841963	185	K>N		No	ClinGen TOPMed gnomAD
rs1385491760 CA411023390	185	K>R		No	ClinGen TOPMed
CA10164749 rs770584736	187	K>N		No	ClinGen ExAC gnomAD
rs1569163223 CA411023343	190	V>L		No	ClinGen Ensembl
CA10164747 rs746999481	193	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs922428629 CA322841936	195	S>C		No	ClinGen TOPMed
rs549047340 CA322841928	196	E>K		No	ClinGen gnomAD
CA10164745 rs201335417	197	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1415378 CA10164744 rs752321351	197	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1268751194 CA411023289	199	T>A		No	ClinGen TOPMed
CA10164743 rs778535421	199	T>S		No	ClinGen ExAC gnomAD
rs754722946 CA10164742	201	S>F		No	ClinGen ExAC gnomAD
CA322841915 rs964133991	201	S>P		No	ClinGen TOPMed gnomAD
rs760879057 CA10164739	204	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1196499300 CA411023195	205	F>L		No	ClinGen gnomAD
rs750956291 CA10164738	205	F>L		No	ClinGen ExAC gnomAD
CA322841896 rs778941711	206	P>H		No	ClinGen Ensembl
rs372337248 CA10164736	207	V>L		No	ClinGen ESP ExAC gnomAD
rs774459645 CA10164735	210	S>*		No	ClinGen ExAC TOPMed gnomAD
rs914102099 CA322841888	210	S>A		No	ClinGen TOPMed
rs576060276 CA322841859	212	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs936899993 CA322841861	212	E>G		No	ClinGen Ensembl
rs1569163063 CA411023129	212	E>K		No	ClinGen Ensembl
rs980703232 CA322841853	215	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	216	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437654303 CA411022922	219	Q>*		No	ClinGen TOPMed gnomAD
rs1437654303 CA411022924	219	Q>E		No	ClinGen TOPMed gnomAD
CA10164708 rs372018751	219	Q>L		No	ClinGen ESP ExAC gnomAD
rs1459013993 CA411022876	222	L>P		No	ClinGen gnomAD
CA10164707 rs774362810	222	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	224	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411022838 rs1247419537	225	W>R		No	ClinGen Ensembl
rs1419501749 CA411022831	225	W>S		No	ClinGen TOPMed
CA10164706 rs367796915	226	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161044256 CA411022823	226	R>W		No	ClinGen TOPMed
rs1424264571 CA411022774	229	P>Q		No	ClinGen TOPMed
CA322840975 rs891899436	230	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1367604471 CA411022764	230	S>T		No	ClinGen TOPMed
rs1602215091 CA411022740	232	S>T		No	ClinGen Ensembl
rs1298155674 CA411022718	233	K>N		No	ClinGen TOPMed
rs779612541 CA10164704	234	K>R		No	ClinGen ExAC gnomAD
CA411022699 rs1353524708	235	K>Q		No	ClinGen gnomAD
CA10164702 rs745512662	238	Y>*		No	ClinGen ExAC gnomAD
rs781437423 CA411022613	240	Y>*		No	ClinGen ExAC gnomAD
rs1359221650 CA411022598	242	T>N		No	ClinGen gnomAD
CA10164699 rs147540948	243	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147540948 CA10164698	243	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1158970523 CA411022575	246	L>S		No	ClinGen gnomAD
rs752757045 CA411022567	247	K>R		No	ClinGen ExAC gnomAD
CA10164695 rs752757045	247	K>T		No	ClinGen ExAC gnomAD
TCGA novel	249	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10164694 rs765334770	249	K>T		No	ClinGen ExAC gnomAD
rs755445868 CA10164693	251	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1602214868 CA411022542	251	R>K		No	ClinGen Ensembl
rs1276878978 CA411022520	254	K>R		No	ClinGen gnomAD
CA10164692 rs372358265	255	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA322840974 rs372358265	255	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480935157 CA411022502	257	T>A		No	ClinGen TOPMed
CA411022496 rs754408241	258	A>P		No	ClinGen ExAC TOPMed gnomAD
rs754408241 CA10164691	258	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10164690 rs761640663	259	P>L		No	ClinGen ExAC
rs1013510321 CA322840973	260	Q>R		No	ClinGen TOPMed gnomAD
rs1387144433 CA411022462	263	L>F		No	ClinGen TOPMed
CA322840970 rs947715761	263	L>R		No	ClinGen gnomAD
CA411022453 rs1408230237	265	Q>E		No	ClinGen TOPMed
rs1468997698 CA411022402	269	I>M		No	ClinGen gnomAD
CA411022389 rs1423834251	271	M>T		No	ClinGen gnomAD
CA10164668 rs763959978	272	T>R		No	ClinGen ExAC gnomAD
rs775462085 CA10164666	274	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411022372 rs1437137361	274	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1465218872 CA411022347	277	K>M		No	ClinGen gnomAD
TCGA novel	277	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776109184 CA10164663	279	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA411022336 rs1333659371	279	Y>D		No	ClinGen TOPMed
CA411022335 rs776109184	279	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA322839600 rs986918981	283	S>C		No	ClinGen TOPMed
CA322839597 rs940681529	285	I>F		No	ClinGen Ensembl
CA10164660 rs778129471	286	S>G		No	ClinGen ExAC TOPMed gnomAD
rs887824065 CA411022284	286	S>N		No	ClinGen TOPMed gnomAD
CA322839577 rs887824065	286	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	287	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322839576 rs1049215867	289	H>Y		No	ClinGen TOPMed
rs772437559 CA10164658	290	N>H		No	ClinGen ExAC gnomAD
rs372995914 CA10164657	290	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411022248 rs1229217198	291	V>A		No	ClinGen gnomAD
CA10164655 rs200507071	291	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10164654 rs754036309	292	P>S		No	ClinGen ExAC gnomAD
CA411022239 rs1443113220	293	D>A		No	ClinGen TOPMed gnomAD
rs756454926 CA411022241	293	D>H		No	ClinGen ExAC TOPMed gnomAD
CA10164652 rs756454926	293	D>N		No	ClinGen ExAC TOPMed gnomAD
rs75486435 CA10164650	294	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1374990691 CA411022234	294	D>N		No	ClinGen TOPMed
TCGA novel	295	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10164649 rs369951444	297	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411022213 rs369951444	297	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA411022204 rs1436687849	299	Q>*		No	ClinGen TOPMed
CA10164647 rs765279883	299	Q>R		No	ClinGen ExAC gnomAD
rs112762859 CA10164646	301	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411022190 rs1464757312	301	Q>P		No	ClinGen gnomAD
CA411022184 rs1177259294	302	Q>*		No	ClinGen gnomAD
rs1602209656 CA411022180	302	Q>H		No	ClinGen Ensembl
CA322839487 rs866399461	302	Q>R		No	ClinGen Ensembl
rs1569160496 CA411022164	305	Q>R		No	ClinGen Ensembl
rs373154996 CA10164641	307	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230655356 CA411022149	308	K>Q		No	ClinGen TOPMed
rs748603113 CA10164640	309	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411022141 rs748603113	309	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA10164639 rs779138240	310	A>G		No	ClinGen ExAC gnomAD
rs769247795 CA10164638	311	K>R		No	ClinGen ExAC gnomAD
rs1602209498 CA411022115	313	P>A		No	ClinGen Ensembl
rs1306777917 CA411022111	313	P>R		No	ClinGen gnomAD
CA10164635 rs756223644	314	G>S		No	ClinGen ExAC gnomAD
CA10164633 rs569185412	316	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10164632 rs569185412	316	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1401571030 CA411022094	316	A>V		No	ClinGen TOPMed gnomAD
rs1436788693 CA411022090	317	L>P		No	ClinGen gnomAD
CA411022085 rs1334148970	318	P>L		No	ClinGen TOPMed gnomAD
COSM1415376 CA411022082 rs753731297	319	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10164626 rs760120238	319	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM1535348 CA10164628 rs753731297	319	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA322839379 rs753731297	319	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1454827357 CA411022069	321	E>A		No	ClinGen TOPMed
TCGA novel	321	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1015188609 CA322839368	323	N>K		No	ClinGen Ensembl
CA10164625 rs772695018	323	N>S		No	ClinGen ExAC gnomAD
CA411022019 rs774829895	329	D>H		No	ClinGen ExAC TOPMed gnomAD
CA10164622 rs774829895	329	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10164620 rs749845405	331	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10164618 rs768987228	333	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs996239314 CA322839332	335	I>N		No	ClinGen Ensembl
CA10164617 rs182723168	338	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10164616 rs182723168	338	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10164614 rs747148907	339	D>E		No	ClinGen ExAC TOPMed gnomAD
rs757542693 CA10164615	339	D>G		No	ClinGen ExAC gnomAD
CA411021942 rs1416883701	340	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10164613 COSM247798 rs778796621	340	R>W	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA411021937 rs1338658071	341	Q>R		No	ClinGen gnomAD
rs754697623 CA10164612	343	Q>R		No	ClinGen ExAC gnomAD
rs1470035319 CA411021919	344	Y>D		No	ClinGen TOPMed
rs1176856159 CA411021913	345	E>K		No	ClinGen TOPMed
CA10164610 rs138581074	346	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs753786291 CA10164611	346	R>W		No	ClinGen ExAC TOPMed gnomAD
CA411021899 rs1460923790	347	D>G		No	ClinGen TOPMed gnomAD
rs943886853 CA322839268	347	D>N		No	ClinGen Ensembl
CA411021885 rs1162018040	349	V>L		No	ClinGen gnomAD
CA411021884 rs1162018040	349	V>M		No	ClinGen gnomAD
rs1367269836 CA411021880	350	V>I		No	ClinGen TOPMed
CA10164609 rs144808415	351	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10164608 rs144808415	351	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1008530 CA411021847	354	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411021846 rs1475984249	355	E>K		No	ClinGen gnomAD
CA411021833 rs1442700122	357	E>K		No	ClinGen TOPMed
CA10164606 rs761551508	358	K>M		No	ClinGen ExAC gnomAD
CA411021804 rs1447435768	360	T>I		No	ClinGen gnomAD
rs573044162 CA411021799	361	E>A		No	ClinGen TOPMed
CA322839251 rs573044162	361	E>V		No	ClinGen TOPMed
rs1305591631 CA411021796	362	V>I		No	ClinGen TOPMed gnomAD
CA411021783 rs1319865614	364	D>N		No	ClinGen TOPMed
CA411021774 rs1208046395	365	H>P		No	ClinGen gnomAD
CA10164604 COSM1267691 rs763356224	366	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10164603 rs763356224	366	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs374991151 CA10164599	368	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA411021754 rs1337190103	368	R>W		No	ClinGen TOPMed
CA10164598 rs776791220	371	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1391992949 CA411021718	374	S>G		No	ClinGen gnomAD
CA411021712 rs1165022155	374	S>R		No	ClinGen gnomAD
rs777795932 CA411021704	375	K>N		No	ClinGen ExAC gnomAD
TCGA novel	378	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420826525 CA411021691 COSM1190409	378	E>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA411021657 rs1475526255	381	E>G		No	ClinGen TOPMed gnomAD
CA10164594 rs772268513	381	E>K		No	ClinGen ExAC gnomAD
CA10164592 rs779791592	383	C>R		No	ClinGen ExAC TOPMed gnomAD
rs201185631 CA322839180	384	E>A		No	ClinGen 1000Genomes
rs368664541 CA10164590	384	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs756655665 CA10164588	385	R>P		No	ClinGen ExAC gnomAD
rs756655665 CA411021601	385	R>Q		No	ClinGen ExAC gnomAD
CA10164589 rs200704154	385	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763900688 CA411021591	386	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1032998 CA10164586 rs763900688	386	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751239002 CA10164587	386	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	387	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411021532 rs1372161580	390	D>E		No	ClinGen gnomAD
CA10164584 rs56242702	390	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10164583 rs201334248	391	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs781517278 CA10164582	393	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1216608720 CA411021478	394	P>R		No	ClinGen TOPMed
rs776931738 CA10164581	394	P>T		No	ClinGen ExAC gnomAD
CA10164580 rs771053413	395	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	395	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322839102 rs1021519244	396	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA411021461 rs1602208632	396	T>P		No	ClinGen Ensembl
rs773337609 CA10164578	398	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1398104180 CA411021441	398	D>Y		No	ClinGen gnomAD
CA10164577 rs202069268	399	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202069268 CA322839083	399	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1602208590 CA411021411	400	C>G		No	ClinGen Ensembl
TCGA novel	400	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748346303 CA10164576	401	A>T		No	ClinGen ExAC gnomAD
rs142326419 CA10164573	402	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1237678998 CA411021379	402	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	403	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10164572 rs780933985	403	I>T		No	ClinGen ExAC gnomAD
rs1410245730 CA411021373	403	I>V		No	ClinGen TOPMed
CA411021349 rs1008468686	404	F>L		No	ClinGen TOPMed gnomAD
rs757209177 CA10164571 COSM1229052	405	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751102347 CA10164570	406	T>A		No	ClinGen ExAC gnomAD
CA411021325 rs1349097563	406	T>N		No	ClinGen gnomAD
CA10164569 rs148750780	407	L>M		No	ClinGen ESP ExAC gnomAD
rs1483630546 CA411021313	407	L>P		No	ClinGen Ensembl
CA10164567 rs752354129	409	D>N		No	ClinGen ExAC gnomAD
COSM296137 CA411021238 rs1278453677	412	Y>C	large_intestine Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA411021194 rs765698746 CA10164566	417	M>L		No	ClinGen ExAC gnomAD
CA411021182 rs1397847368	418	S>C		No	ClinGen TOPMed
rs754214870 CA10164564	419	D>N		No	ClinGen ExAC gnomAD
CA10164563 rs766862268	420	R>C		No	ClinGen ExAC TOPMed gnomAD
rs144296284 CA10164561	420	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144296284 CA411021171	420	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144296284 CA10164562	420	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1283015213 CA411021139	423	L>V		No	ClinGen TOPMed
CA10164560 rs141933151	424	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322839009 rs544215479	428	V>I		No	ClinGen TOPMed gnomAD
rs769644425 CA10164557	429	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs769644425 CA411021065	429	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs745708615 CA10164556	431	L>F		No	ClinGen ExAC gnomAD
CA411021035 rs1282955775	432	M>V		No	ClinGen gnomAD
TCGA novel	433	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140094946 CA10164555	434	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA411021001 rs1214825154	434	E>K		No	ClinGen gnomAD
rs1225970527 CA411020952	437	K>E		No	ClinGen gnomAD
rs1317335351 CA411020927	438	E>D		No	ClinGen TOPMed
rs1345515761 CA411020859	443	K>T		No	ClinGen TOPMed
CA10164531 rs778455199	446	T>A		No	ClinGen ExAC TOPMed gnomAD
CA411020766 rs1487797556	446	T>I		No	ClinGen TOPMed gnomAD
rs570811760 CA10164529	447	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs768512600 CA10164527	447	Y>*		No	ClinGen ExAC
CA10164530 rs754634881	447	Y>F		No	ClinGen ExAC gnomAD
rs147524998 CA10164526	449	T>I		No	ClinGen ESP ExAC gnomAD
rs754797507 CA322838875	450	E>K		No	ClinGen gnomAD
CA411020673 rs1435498838	454	K>E		No	ClinGen TOPMed
rs1009007713 CA322838871	454	K>M		No	ClinGen Ensembl
rs1216049260 CA411020656	456	K>Q		No	ClinGen gnomAD
rs902624927 CA322838869	459	L>P		No	ClinGen Ensembl
rs1441511711 CA411020628	460	E>A		No	ClinGen gnomAD
rs1396847548 CA411020625	460	E>D		No	ClinGen TOPMed gnomAD
CA10164522 rs768071277	460	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA411020619 rs1329343562	461	N>S		No	ClinGen gnomAD
CA411020610 rs1355273240	462	D>E		No	ClinGen TOPMed gnomAD
rs757757926 CA10164521	462	D>N		No	ClinGen ExAC gnomAD
rs1172781455 CA411020607	463	Q>E		No	ClinGen gnomAD
CA411020591 rs763110174	465	L>S		No	ClinGen ExAC gnomAD
CA10164518 rs763110174	465	L>W		No	ClinGen ExAC gnomAD
CA322838845 rs796797440	468	G>S		No	ClinGen gnomAD
rs367623576 CA10164515	469	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480114669 CA411020556	471	D>N		No	ClinGen gnomAD
rs773133932 CA10164514	472	L>F		No	ClinGen ExAC gnomAD
TCGA novel	472	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411020539 rs1206182782	473	S>*		No	ClinGen gnomAD
CA10164513 rs772174395	478	H>Y		No	ClinGen ExAC gnomAD
CA322838813 rs766206752	479	R>G		No	ClinGen gnomAD
CA411041493 rs1474027194	479	R>S		No	ClinGen gnomAD
CA411041486 rs1433730056	480	L>F		No	ClinGen TOPMed
rs922917057 CA411041477 CA322868438	482	W>R		No	ClinGen TOPMed gnomAD
rs1486550770 CA411041467	483	E>*		No	ClinGen gnomAD
rs200959980 CA322868434	483	E>G		No	ClinGen 1000Genomes TOPMed
CA411041451 rs1602203020	485	W>L		No	ClinGen Ensembl
rs1204502440 CA411041439	486	M>I		No	ClinGen gnomAD
rs902166756 CA322868428	487	P>S		No	ClinGen TOPMed gnomAD
CA10164484 rs374892403	490	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA411041419 rs374892403	490	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs541912807 CA10164483	490	R>Q	Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs532889276 CA10164482	492	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411041402 rs1569158257	493	V>I		No	ClinGen Ensembl
CA411041364 rs1602202867	498	P>A		No	ClinGen Ensembl
rs1198425196 CA411041351	500	N>D		No	ClinGen gnomAD
rs1318020335 CA411041345	500	N>K		No	ClinGen gnomAD
CA10164477 rs779315121	501	C>*		No	ClinGen ExAC
CA10164478 rs752859873	502	D>A		No	ClinGen ExAC
CA10164476 rs779110168	503	P>A		No	ClinGen ExAC gnomAD
COSM3740381 CA10164475 rs150727920	503	P>L	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA411041321 rs1459473579	504	M>T		No	ClinGen gnomAD
CA411041313 rs1602202782	505	V>G		No	ClinGen Ensembl
rs1198802941 CA411041307	506	D>A		No	ClinGen TOPMed
CA411041310 rs1431993941	506	D>N		No	ClinGen TOPMed
rs1478021768 CA411041301	507	F>L		No	ClinGen gnomAD
rs761644326 CA10164472	510	S>G		No	ClinGen ExAC gnomAD
rs189143195 CA10164471	510	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs969618562 CA322868365	511	W>*		No	ClinGen Ensembl
CA411041269 rs1479209947	511	W>*		No	ClinGen TOPMed
rs764160758 CA10164470	512	V>A		No	ClinGen ExAC gnomAD
CA411041249 rs1211737307	514	I>T		No	ClinGen gnomAD
rs141191204 CA10164468	514	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764680398 CA10164467	515	I>F		No	ClinGen ExAC TOPMed gnomAD
rs759222648 CA10164466	516	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1320690104 CA411041238	516	P>S		No	ClinGen TOPMed
CA10164464 rs770553732	517	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770553732 CA411041235 COSM1032994	517	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA411041211 rs1328558165	520	L>S		No	ClinGen gnomAD
TCGA novel	521	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411041189 rs1569158064	523	I>L		No	ClinGen Ensembl
rs748553174 CA10164460	525	D>N		No	ClinGen ExAC gnomAD
TCGA novel	526	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322868310 rs1055309405	527	L>V		No	ClinGen TOPMed
CA10164456 rs148213129	530	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166949531 CA411041130	532	L>V		No	ClinGen gnomAD
CA10164455 rs756286236	533	Q>E		No	ClinGen ExAC gnomAD
rs751412902 CA411041112	534	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1602201330 CA411041058	540	N>T		No	ClinGen Ensembl
rs553829342 CA10164428	541	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA10164426 rs765754986	545	T>A		No	ClinGen ExAC gnomAD
rs760404982 CA10164425	545	T>I		No	ClinGen ExAC gnomAD
CA411041026 rs760404982	545	T>N		No	ClinGen ExAC gnomAD
rs1168010045 CA411041016	547	P>S		No	ClinGen gnomAD
CA411041012 rs1446892768	548	I>V		No	ClinGen gnomAD
CA411041001 rs1282952732	549	H>P		No	ClinGen gnomAD
rs767937557 CA10164423	552	I>V		No	ClinGen ExAC gnomAD
rs1232273981 CA411040974	553	H>Y		No	ClinGen gnomAD
rs370484334 CA10164422	555	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1355876551 CA411040961	555	W>R		No	ClinGen gnomAD
CA411040944 rs1602201112	557	P>L		No	ClinGen Ensembl
CA411040949 rs1344472200	557	P>S		No	ClinGen gnomAD
rs1458946811 CA411040943	558	L>I		No	ClinGen gnomAD
CA10164420 rs769326596	559	M>T		No	ClinGen ExAC TOPMed gnomAD
CA411040928 rs1164542420	560	Q>E		No	ClinGen gnomAD
CA411040917 rs1475631387	561	A>G		No	ClinGen gnomAD
CA10164418 rs556056607 COSM399432	562	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA411040914 rs373604642	562	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10164417 rs769725225	563	L>R		No	ClinGen ExAC gnomAD
rs1243261714 CA411040910	563	L>V		No	ClinGen gnomAD
rs746109562 CA10164416	564	E>G		No	ClinGen ExAC gnomAD
rs1334997670 CA411040890	566	L>P		No	ClinGen gnomAD
CA411040875 rs1158739535	568	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1602200908 CA411040879	568	S>P		No	ClinGen Ensembl
CA411040867 rs1602200859	570	I>L		No	ClinGen Ensembl
rs778652797 CA10164412	571	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1163273261 CA411040859 COSM1032993	571	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs754927488 CA10164411	572	S>G		No	ClinGen ExAC
rs1437162896 CA411040847	573	K>E		No	ClinGen gnomAD
rs371301763 CA10164410	575	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	575	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1325259038 CA411040830	576	S>G		No	ClinGen gnomAD
TCGA novel	577	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779618429 CA10164409	581	W>*		No	ClinGen ExAC
rs1602200720 CA411040785	582	H>P		No	ClinGen Ensembl
CA411040788 rs1305389732	582	H>Y		No	ClinGen TOPMed
CA10164408 rs755519326	584	S>G		No	ClinGen ExAC
CA411040767 rs1409822853	585	D>N		No	ClinGen gnomAD
rs767142439 CA10164406	589	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1287639714 CA411040691	596	K>E		No	ClinGen TOPMed
TCGA novel	596	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145549879 CA10164404	600	T>I		No	ClinGen ESP ExAC gnomAD
CA10164403 rs764507407	601	P>L		No	ClinGen ExAC gnomAD
CA411040657 rs1266910751	601	P>S		No	ClinGen gnomAD
CA322867826 rs377694383	604	W>C		No	ClinGen ESP TOPMed
rs1273388066 CA411040638	604	W>R		No	ClinGen gnomAD
rs1316340753 CA411040624	606	A>T		No	ClinGen gnomAD
CA10164398 rs776737812	608	M>I		No	ClinGen ExAC TOPMed gnomAD
rs759596493 CA10164399	608	M>T		No	ClinGen ExAC gnomAD
CA10164400 rs769935255	608	M>V		No	ClinGen ExAC gnomAD
rs1248335632 CA411040603	609	V>I		No	ClinGen gnomAD
CA411040584 rs1296712137	611	N>K		No	ClinGen gnomAD
rs954116018 CA411040578	612	I>K		No	ClinGen gnomAD
rs954116018 CA322867802	612	I>T		No	ClinGen gnomAD
CA10164396 rs747182666	614	P>L		No	ClinGen ExAC gnomAD
rs1569156381 CA411040536	617	G>E		No	ClinGen Ensembl
CA322866942 rs1036501522	624	V>I		No	ClinGen TOPMed
rs1484593881 CA411040485	625	I>V		No	ClinGen gnomAD
rs373450619 CA10164378	626	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10164376 rs772266873	627	P>S		No	ClinGen ExAC gnomAD
rs749918134	628	H>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs775324967 CA10164372	629	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA411040452 rs769669754	630	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs769669754 CA10164371	630	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1290484647 CA411040446	630	Q>H		No	ClinGen gnomAD
rs182511018 CA10164369	632	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1005690220 CA322866923	633	D>E		No	ClinGen Ensembl
CA10164368 rs756763345	636	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA411040392 rs1165381329	638	V>M		No	ClinGen gnomAD
rs1398312664 CA411040382	639	I>T		No	ClinGen gnomAD
rs1383366144 CA638783190	640	D>E		No	ClinGen gnomAD
rs1452514302 CA411040334	645	I>S		No	ClinGen gnomAD
rs1288785984 CA411040339	645	I>V		No	ClinGen gnomAD
CA10164366 rs777629357	647	V>L		No	ClinGen ExAC
CA411040317 rs758124053	648	S>C		No	ClinGen ExAC TOPMed gnomAD
rs758124053 CA10164365	648	S>F		No	ClinGen ExAC TOPMed gnomAD
rs753047577 CA411040285	654	L>I		No	ClinGen ExAC TOPMed gnomAD
CA10164364 COSM3842370 rs753047577	654	L>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs755467728 CA10164362	657	H>L		No	ClinGen ExAC TOPMed gnomAD
CA10164363 rs765584384	657	H>Y		No	ClinGen ExAC gnomAD
CA10164361 rs754302773	661	K>R		No	ClinGen ExAC gnomAD
rs766457779 CA10164360	662	W>*		No	ClinGen ExAC gnomAD
rs760800786 CA10164359	663	L>F		No	ClinGen ExAC TOPMed gnomAD
CA411040192 rs1344748963	665	V>G		No	ClinGen gnomAD
CA411040197 rs1206386346	665	V>M		No	ClinGen TOPMed gnomAD
CA322866676 rs894543435	667	C>R		No	ClinGen Ensembl
CA10164332 rs759436489	667	C>Y		No	ClinGen ExAC gnomAD
rs1446808764 CA411040178	668	S>P		No	ClinGen TOPMed
CA411040170 rs1234170776	669	W>S		No	ClinGen gnomAD
CA411040160 rs1569155848	670	L>P		No	ClinGen Ensembl
CA10164331 rs375290632	671	S>G		No	ClinGen ESP ExAC gnomAD
CA10164330 rs771035863	671	S>N		No	ClinGen ExAC
CA411040145 rs1274882701	672	N>K		No	ClinGen gnomAD
CA10164329 rs763912440	672	N>L		No	ClinGen ExAC
CA10164328 rs760636378	674	P>S		No	ClinGen ExAC gnomAD
rs960208140 CA322866670	676	Y>C		No	ClinGen TOPMed gnomAD
rs762805603	678	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs145696489 CA10164326	678	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA322866666 rs755011208	680	T>S		No	ClinGen Ensembl
rs747766013 CA10164324	681	K>M		No	ClinGen ExAC TOPMed gnomAD
rs149764032 CA10164322	688	S>L		No	ClinGen ESP ExAC gnomAD
rs1305129818 CA411040024	689	M>I		No	ClinGen gnomAD
rs1174272867 CA411040028	689	M>T		No	ClinGen TOPMed
rs1569155764 CA411040010	691	S>L		No	ClinGen Ensembl
CA411040014 rs1569155767	691	S>P		No	ClinGen Ensembl
rs1468651315 CA411039999	693	Q>*		No	ClinGen gnomAD
rs1363504775 CA411039982	696	A>T		No	ClinGen gnomAD
CA10164320 rs780374673	698	P>S		No	ClinGen ExAC TOPMed gnomAD
CA411039949 rs1255789204	701	K>*		No	ClinGen gnomAD
CA411039932 rs150843922	703	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150843922 CA10164318	703	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150843922 CA10164319	703	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10164316 rs781280511	713	R>Q		No	ClinGen ExAC gnomAD
rs1278730515 CA411039860	713	R>W		No	ClinGen gnomAD
rs190854539 CA10164315	714	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA10164314 COSM1032992 rs190854539	714	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed
CA411039838 rs1228601875	717	S>F		No	ClinGen gnomAD
rs908459511 CA322866639	718	N>K		No	ClinGen gnomAD
rs939900288 CA322866641	718	N>S		No	ClinGen TOPMed
CA10164312 rs140942811	719	V>I		No	ClinGen ESP ExAC gnomAD
CA411039648 rs1416391788	721	A>T		No	ClinGen gnomAD
rs747177089 CA10164296	721	A>V		No	ClinGen ExAC gnomAD
CA322866025 rs1048479505	722	Y>C		No	ClinGen TOPMed gnomAD
rs1048479505 CA322866023	722	Y>F		No	ClinGen TOPMed gnomAD
CA411039629 CA411039627 rs1188583600	723	M>L		No	ClinGen TOPMed gnomAD
CA10164295 rs777697682	725	P>S		No	ClinGen ExAC gnomAD
TCGA novel	726	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250827445 CA411039581	727	A>V		No	ClinGen TOPMed gnomAD
rs371455445 CA322866004	728	R>L		No	ClinGen ESP TOPMed gnomAD
rs371455445 CA322866006	728	R>Q		No	ClinGen ESP TOPMed gnomAD
rs374879389 CA10164293	728	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA411039573 rs1212768097	729	E>K		No	ClinGen gnomAD
rs753163860 CA322866001	731	I>T		No	ClinGen gnomAD
CA10164292 rs766303217	734	L>F		No	ClinGen ExAC gnomAD
CA322865988 rs367681837	736	H>Y		No	ClinGen ESP TOPMed
rs147683514 CA10164289	737	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10164286 rs376300046	739	R>Q		No	ClinGen ESP ExAC gnomAD
rs761644057 CA10164287	739	R>W		No	ClinGen ExAC gnomAD
rs371046387 CA10164285	741	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs915576147 CA322865955	742	D>E		No	ClinGen TOPMed gnomAD
rs201235822 CA10164283	743	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10164280 rs746269405	747	A>V		No	ClinGen ExAC gnomAD
rs776851933 CA10164279	748	M>T		No	ClinGen ExAC gnomAD
CA10164275 rs758506991	752	R>Q		No	ClinGen ExAC gnomAD
rs777944340 CA10164276	752	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA322865914 rs1047124063	753	E>G		No	ClinGen Ensembl
rs986593060 CA322865908	754	A>T		No	ClinGen gnomAD
rs1300594381 CA411039303	754	A>V		No	ClinGen gnomAD
rs779320513 CA10164273	755	E>G		No	ClinGen ExAC gnomAD
rs140083093 CA10164274	755	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA411039266 rs1296640899 CA411039262	757	M>I		No	ClinGen TOPMed gnomAD
CA10164272 rs147941626	758	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10164268 rs148804829	764	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs757223429 CA10164269	764	V>M	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763682219 CA10164267	765	A>D		No	ClinGen ExAC gnomAD
rs144403503 CA10164265	766	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472174887 CA411039187	766	A>V		No	ClinGen gnomAD
CA10164264 rs764932526	767	S>G		No	ClinGen ExAC gnomAD
rs377384093 CA322865855	768	S>F		No	ClinGen ESP TOPMed
rs1207214131 CA411039178	768	S>P		No	ClinGen gnomAD
CA411039171 rs1569154234	769	V>E		No	ClinGen Ensembl
rs1484625760 CA411039166	770	P>S		No	ClinGen gnomAD
CA411039160 rs1255509340	771	M>L		No	ClinGen gnomAD
CA411039161 rs1255509340	771	M>V		No	ClinGen gnomAD
rs1238566452 CA411039150	772	N>S		No	ClinGen TOPMed gnomAD
CA411039140 rs1210969044	773	F>L		No	ClinGen TOPMed gnomAD
rs759171870 CA10164263	773	F>V		No	ClinGen ExAC
CA411039128 rs1314023230	775	D>Y		No	ClinGen gnomAD
CA411039096 rs1375012861	779	T>I		No	ClinGen TOPMed
CA411039082 rs1314784321	781	A>V		No	ClinGen TOPMed
rs1032637543 CA322865839	783	E>D		No	ClinGen TOPMed gnomAD
rs773643884 CA10164259	790	P>L		No	ClinGen ExAC gnomAD
CA10164257 rs574318611	791	V>I	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1401985128 CA411039003	793	G>R		No	ClinGen gnomAD
TCGA novel	795	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769013718 CA10164255	796	H>Y		No	ClinGen ExAC gnomAD
rs781071325 CA10164253	797	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411038966 rs756952141	798	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10164252 rs756952141	798	G>V		No	ClinGen ExAC TOPMed gnomAD
CA10164251 rs3177310	801	L>P		No	ClinGen ESP ExAC gnomAD
CA10164249 rs758325865	806	R>C		No	ClinGen ExAC gnomAD
rs1024086601 CA322865772 COSM1415370	806	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs752259502 CA10164248	808	V>M		No	ClinGen ExAC gnomAD
CA10164245 rs753388584	811	I>T		No	ClinGen ExAC gnomAD
CA322865743 rs374904559	812	D>N		No	ClinGen ESP TOPMed gnomAD
rs1314136444 CA411038869	813	R>L		No	ClinGen gnomAD
rs1314136444 CA411038871	813	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773624109 CA10164242	813	R>W		No	ClinGen ExAC gnomAD
CA10164241 rs772765613	814	G>E		No	ClinGen ExAC gnomAD
rs1242689323 CA411038866	814	G>R		No	ClinGen TOPMed
TCGA novel	815	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145968579 CA10164239	818	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA411038843 rs145968579	818	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394284432 CA411038835	819	Q>P		No	ClinGen TOPMed
CA411038824 rs749547123	821	E>*		No	ClinGen ExAC TOPMed gnomAD
CA10164237 rs749547123 COSM1032990	821	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780188579 CA10164236	823	T>M		No	ClinGen ExAC gnomAD
rs1367621707 CA411038784	826	P>L		No	ClinGen gnomAD
TCGA novel	826	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411038778 rs1165404685	827	T>I		No	ClinGen gnomAD
rs1165404685 CA411038780	827	T>S		No	ClinGen gnomAD
rs1246289788 CA411038768	829	L>P		No	ClinGen gnomAD
rs1250209712 CA411038724	835	M>I		No	ClinGen TOPMed gnomAD
CA411038726 rs1328642144	835	M>T		No	ClinGen TOPMed
CA411038721 rs1208274522	836	A>T		No	ClinGen gnomAD
CA10164232 rs758342275	837	K>R		No	ClinGen ExAC TOPMed gnomAD
rs758342275 CA411038712	837	K>T		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9UBB9

3 regional properties for Q9UBB9

Type	Name	Position	InterPro Accession
domain	G-patch domain	147 - 195	IPR000467
domain	Tuftelin interacting protein, N-terminal domain	18 - 107	IPR022159
domain	GCF, C-terminal	397 - 666	IPR022783

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	In the nucleus localizes to unique speckle domains in close proximity to nuclear speckles and not identical to paraspeckles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular matrix	A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U2-type post-mRNA release spliceosomal complex	A spliceosomal complex that is formed following the release of the spliced product from the post-spliceosomal complex and contains the excised intron and the U2, U5 and U6 snRNPs.

1 GO annotations of molecular function

Name	Definition
nucleic acid binding	Binding to a nucleic acid.

9 GO annotations of biological process

Name	Definition
biomineral tissue development	Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
negative regulation of DNA ligase activity	Any process that stops, prevents or reduces the frequency, rate or extent of DNA ligase activity.
negative regulation of double-strand break repair via nonhomologous end joining	Any process that stops, prevents or reduces the frequency, rate or extent of double-strand break repair via nonhomologous end joining.
negative regulation of protein binding	Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.
negative regulation of protein-containing complex assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly.
protection from non-homologous end joining at telomere	A process that prevents non-homologous end joining at telomere, thereby ensuring that telomeres do not fuse.
RNA processing	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.
spliceosomal complex disassembly	Disassembly of a spliceosomal complex with the ATP-dependent release of the product RNAs, one of which is composed of the joined exons. In cis splicing, the other product is the excised sequence, often a single intron, in a lariat structure.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q06411	SPP382	Pre-mRNA-splicing factor SPP382	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9ERA6	Tfip11	Tuftelin-interacting protein 11	Mus musculus (Mouse)	PR
Q9SLC6	STIPL2	Septin and tuftelin-interacting protein 1 homolog 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSLSHLYRDG	EGRIDDDDDE	RENFEITDWD	LQNEFNPNRQ	RHWQTKEEAT	YGVWAERDSD
70	80	90	100	110	120
DERPSFGGKR	ARDYSAPVNF	ISAGLKKGAA	EEAELEDSDD	EEKPVKQDDF	PKDFGPRKLK
130	140	150	160	170	180
TGGNFKPSQK	GFAGGTKSFM	DFGSWERHTK	GIGQKLLQKM	GYVPGRGLGK	NAQGIINPIE
190	200	210	220	230	240
AKQRKGKGAV	GAYGSERTTQ	SMQDFPVVDS	EEEAEEEFQK	ELSQWRKDPS	GSKKKPKYSY
250	260	270	280	290	300
KTVEELKAKG	RISKKLTAPQ	KELSQVKVID	MTGREQKVYY	SYSQISHKHN	VPDDGLPLQS
310	320	330	340	350	360
QQLPQSGKEA	KAPGFALPEL	EHNLQLLIDL	TEQEIIQNDR	QLQYERDMVV	NLFHELEKMT
370	380	390	400	410	420
EVLDHEERVI	SNLSKVLEMV	EECERRMQPD	CSNPLTLDEC	ARIFETLQDK	YYEEYRMSDR
430	440	450	460	470	480
VDLAVAIVYP	LMKEYFKEWD	PLKDCTYGTE	IISKWKSLLE	NDQLLSHGGQ	DLSADAFHRL
490	500	510	520	530	540
IWEVWMPFVR	NIVTQWQPRN	CDPMVDFLDS	WVHIIPVWIL	DNILDQLIFP	KLQKEVENWN
550	560	570	580	590	600
PLTDTVPIHS	WIHPWLPLMQ	ARLEPLYSPI	RSKLSSALQK	WHPSDSSAKL	ILQPWKDVFT
610	620	630	640	650	660
PGSWEAFMVK	NIVPKLGMCL	GELVINPHQQ	HMDAFYWVID	WEGMISVSSL	VGLLEKHFFP
670	680	690	700	710	720
KWLQVLCSWL	SNSPNYEEIT	KWYLGWKSMF	SDQVLAHPSV	KDKFNEALDI	MNRAVSSNVG
730	740	750	760	770	780
AYMQPGAREN	IAYLTHTERR	KDFQYEAMQE	RREAENMAQR	GIGVAASSVP	MNFKDLIETK
790	800	810	820	830
AEEHNIVFMP	VIGKRHEGKQ	LYTFGRIVIY	IDRGVVFVQG	EKTWVPTSLQ	SLIDMAK