AiPD: Autoinhibited Protein Database

Q8TDR0

Gene name	TRAF3IP1 (IFT54, MIPT3)
Protein name	TRAF3-interacting protein 1
Names	Interleukin-13 receptor alpha 1-binding protein 1, Intraflagellar transport protein 54 homolog, Microtubule-interacting protein associated with TRAF3, MIP-T3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26146
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

274-343 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

274-343 (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 Q8TDR0

Entry ID	Method	Resolution	Chain	Position	Source
2EQO	NMR	-	A	1-133	PDB
AF-Q8TDR0-F1	Predicted				AlphaFoldDB

623 variants for Q8TDR0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000240646 CA10586346 rs886037899	17	I>M	Senior-Loken syndrome 9 Senior-loken syndrome 9 (slsn9) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_075068	17	I>S	SLSN9; results in altered folding of the N-terminus; does not affect interaction with IFT20; loss of interaction with MAP4 [UniProt]	Yes	UniProt
RCV001223147 RCV001526703 rs1256966921 CA351240053	30	P>S	Senior-Loken syndrome 9 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs370097041 RCV002554463 CA2197942 RCV001064316	39	I>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1574887966 RCV001328916 CA351241258	51	G>D	Senior-Loken syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2197964 rs769651861 RCV000516088	57	E>K	Short-rib thoracic dysplasia 6 with or without polydactyly [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000240625 rs886037896 VAR_075069 CA10586343	125	V>A	Senior-Loken syndrome 9 Senior-loken syndrome 9 (slsn9) SLSN9; results in altered folding of the N-terminus; does not affect interaction with IFT20; loss of interaction with MAP4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000240633 VAR_075070 rs886037898 CA10586345	125	V>M	Senior-Loken syndrome 9 Senior-loken syndrome 9 (slsn9) Variant assessed as Somatic; impact. SLSN9; results in altered folding of the N-terminus; does not localize to the ciliary tip and transition zone; does not affect interaction with IFT20; loss of interaction with MAP4 [ClinVar, Ensembl, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA2198069 RCV001854938 rs765903345 RCV000240637	155	R>*	Senior-Loken syndrome 9 Senior-loken syndrome 9 (slsn9) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA2198115 RCV001233007 RCV003142197 rs114489653	229	E>K	Senior-Loken syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002554505 rs150462938 CA2198133 RCV001066975	254	E>D	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375847619 RCV002563756 RCV001231037 CA2198147	269	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs147751802 RCV002552647 RCV001048692 CA2198148	269	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001039162 rs147990540 RCV002551441 CA2198165	296	N>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2198289 RCV002568642 rs144535537 RCV001246008	386	I>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002553949 rs141000731 CA2198323 RCV001063882	407	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1559369181 CA351232165 RCV000754966	451	L>H	Ellis-van Creveld syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000516077 rs146820102 CA2198416 RCV001351827	453	S>C	Jeune thoracic dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2198474 rs762765790 RCV001349912 RCV002548466	513	A>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001857845 RCV000240643 VAR_075071 CA2198479 rs750055952	520	M>R	Senior-Loken syndrome 9 Senior-loken syndrome 9 (slsn9) SLSN9; does not localize to the ciliary tip [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001313933 rs1243528171 RCV002545065 CA351245765	564	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs142814134 CA2198592 RCV002552057	620	M>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002562591 RCV001224176 rs199907968 CA2198624	643	V>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV003163522 rs199665200 RCV001202430 CA2198627	651	A>T	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000723071 rs1559349524	1	M>I		No	ClinVar dbSNP
rs961332643 CA67974169	2	N>D		No	ClinGen TOPMed
rs1697476086 RCV001053160	3	A>G		No	ClinVar dbSNP
CA351239439 rs1244555469	4	A>S		No	ClinGen gnomAD
CA351239452 rs1256058213	4	A>V		No	ClinGen gnomAD
rs1574880430 CA351239462	5	V>L		No	ClinGen Ensembl
rs537545949 CA67974172	8	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs537545949 CA67974170	8	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
RCV001241019 rs1697477035	8	R>W		No	ClinVar dbSNP
rs763786645 CA67974173	9	T>A		No	ClinGen ExAC TOPMed gnomAD
CA351239550 rs1214100414	9	T>M		No	ClinGen TOPMed
rs763786645 CA351239529	9	T>P		No	ClinGen ExAC TOPMed gnomAD
rs763786645 CA2197931	9	T>S		No	ClinGen ExAC TOPMed gnomAD
rs868448992 CA67974174	12	A>E		No	ClinGen Ensembl
RCV001316153 rs1425255419 CA351239610	12	A>S		No	ClinGen ClinVar dbSNP gnomAD
rs1419800258 CA351239698	14	G>E		No	ClinGen gnomAD
CA351239724 rs1357364279	15	K>R		No	ClinGen gnomAD
rs1303272911 CA351239763	17	I>V		No	ClinGen gnomAD
CA351239787 rs1308601851	18	R>L		No	ClinGen gnomAD
CA351239784 rs1308601851	18	R>Q		No	ClinGen gnomAD
rs1238300900 CA351239783	18	R>W		No	ClinGen TOPMed gnomAD
rs755459056 CA67974202	19	R>G		No	ClinGen ExAC TOPMed gnomAD
CA351239816 rs1277049217	19	R>M		No	ClinGen gnomAD
CA351239824 rs1442403482	19	R>S		No	ClinGen TOPMed gnomAD
rs1239620746 CA351239846	20	P>L		No	ClinGen gnomAD
rs1211258129 CA351239842	20	P>S		No	ClinGen TOPMed gnomAD
CA351239828 rs1211258129	20	P>T		No	ClinGen TOPMed gnomAD
rs1237222896 CA351239861	21	P>L		No	ClinGen TOPMed gnomAD
rs1237222896 CA351239858	21	P>Q		No	ClinGen TOPMed gnomAD
rs1176343877 CA351239856	21	P>S		No	ClinGen gnomAD
CA351239852 rs1176343877	21	P>T		No	ClinGen gnomAD
CA351239879 rs1422958883	23	T>A		No	ClinGen gnomAD
RCV001226754 rs1697483113	23	T>I		No	ClinVar dbSNP
CA351239886 rs1413908284	23	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	24	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1360735781 CA351239900	24	E>G		No	ClinGen gnomAD
rs1444339131 CA351239926	25	K>N		No	ClinGen gnomAD
CA351239936 rs1330851033	26	L>M		No	ClinGen TOPMed gnomAD
CA351239967 rs1273219455	27	L>P		No	ClinGen gnomAD
CA351239989 rs1220362002	28	S>I		No	ClinGen gnomAD
CA351240003 rs1316404295	29	K>E		No	ClinGen gnomAD
rs752772495 CA2197938	30	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752772495 CA67974206	30	P>R		No	ClinGen ExAC TOPMed gnomAD
CA351240082 rs1477646716	31	P>Q		No	ClinGen TOPMed gnomAD
CA351240068 rs1244520608	31	P>T		No	ClinGen gnomAD
rs1222196969 CA351240126	33	R>C		No	ClinGen TOPMed
CA351240128 rs1469015194	33	R>L		No	ClinGen TOPMed
CA351240143 rs1463811196	34	Y>C		No	ClinGen gnomAD
CA2197941 rs747134709	35	L>M		No	ClinGen ExAC TOPMed gnomAD
CA351240162 rs747134709	35	L>V		No	ClinGen ExAC TOPMed gnomAD
CA67974228 rs975800695	37	D>Y		No	ClinGen TOPMed
RCV001315225 rs1697488276	39	I>missing		No	ClinVar dbSNP
rs1225876583 CA351240238	40	T>P		No	ClinGen TOPMed
CA351241139 rs1559352816	44	R>G		No	ClinGen Ensembl
rs1263851923 CA351241173	46	T>N		No	ClinGen gnomAD
rs1448446488 CA351241179	47	G>C		No	ClinGen TOPMed gnomAD
rs1264202792 CA351241218	49	M>T		No	ClinGen TOPMed
rs1258055338 CA351241249	50	K>N		No	ClinGen TOPMed gnomAD
CA351241242 rs1185160857	50	K>R		No	ClinGen gnomAD
COSM1018562 rs373603096 CA2197962	56	A>T	Variant assessed as Somatic; 0.0001848 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1559352877 CA351241389	59	K>T		No	ClinGen Ensembl
rs368351126 CA67977391	62	N>D		No	ClinGen ESP
CA351241477 rs1299303838	64	K>M		No	ClinGen gnomAD
rs1255365750 RCV001238783 CA351241574	65	D>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
TCGA novel	69	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879162414 CA67977742	71	S>I		No	ClinGen Ensembl
TCGA novel	71	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA67977750 rs534435982	71	S>R		No	ClinGen ExAC gnomAD
rs879162414 CA67977737	71	S>T		No	ClinGen Ensembl
rs1205341956 CA351241746	72	F>L		No	ClinGen gnomAD
rs756000108 CA2197985	74	Q>P		No	ClinGen ExAC gnomAD
rs749300718 CA2197987	75	K>E		No	ClinGen ExAC
CA351241822 rs1411722695	75	K>R		No	ClinGen gnomAD
rs143375220 CA2197989	77	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771514528 CA2197991	79	V>L		No	ClinGen ExAC TOPMed gnomAD
rs771514528 CA2197992	79	V>M		No	ClinGen ExAC TOPMed gnomAD
RCV001301880 CA2197993 rs562515570	82	M>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2197994 rs147512316	84	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2197996 rs763584113 RCV001227685	87	P>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA2197997 rs137999499	88	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2197998 RCV001235947 rs137999499	88	L>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs199901714 CA67977800	90	A>T		No	ClinGen 1000Genomes
rs1009121203 CA67977805	91	K>R		No	ClinGen TOPMed
CA351242187 rs1346091976	92	P>L		No	ClinGen gnomAD
COSM1494863 CA2198002 rs756379060	94	R>*	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2198003 rs766319886	94	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372369730 CA351242264	95	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1025631475 CA67977819	95	I>S		No	ClinGen Ensembl
RCV001303237 rs527454385 CA2198006	96	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs748053310 CA2198007	97	A>V		No	ClinGen ExAC TOPMed gnomAD
CA67977849 rs759480850	98	G>A		No	ClinGen Ensembl
RCV001227366 rs759480850	98	G>V		No	ClinVar dbSNP
CA2198009 rs750200893	99	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs746714906 CA351242397	101	P>A		No	ClinGen ExAC gnomAD
rs746714906 CA2198010	101	P>S		No	ClinGen ExAC gnomAD
rs200967787 COSM574187 CA2198011	102	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs775979114 CA2198012	103	R>T		No	ClinGen ExAC TOPMed gnomAD
rs768996128 CA2198015	105	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1296503794 CA351242505	105	N>T		No	ClinGen TOPMed
CA2198016 rs762357686	106	E>D		No	ClinGen ExAC gnomAD
rs1363044681 CA351242520	106	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA351242610 rs1406745027 RCV001304359	109	Q>P		No	ClinGen ClinVar dbSNP gnomAD
CA351242690 rs1296286908	112	G>A		No	ClinGen gnomAD
rs773398183 CA2198018	114	C>S		No	ClinGen ExAC gnomAD
rs1296965712 CA351242744	115	C>S		No	ClinGen TOPMed
RCV001341657 rs761049632 CA2198019	116	L>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs766499493 CA2198020	117	N>H		No	ClinGen ExAC gnomAD
rs964571901 CA67977873	117	N>S		No	ClinGen TOPMed
rs776751229 CA2198039	120	S>C		No	ClinGen ExAC TOPMed gnomAD
CA351243471 rs1243379720	121	S>R		No	ClinGen gnomAD
rs759756954 RCV001231835 CA2198040	121	S>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs937612546 CA67979608	123	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764922323 CA2198043	124	A>E		No	ClinGen ExAC TOPMed gnomAD
rs764922323 CA2198044	124	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351243637 rs199981238	126	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2198047 rs199981238	126	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2198046 rs372959878 RCV001248097	126	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201098281 CA2198048	127	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA351243652 rs1374656296	128	V>F		No	ClinGen gnomAD
rs755757237 CA2198049	130	A>D		No	ClinGen ExAC gnomAD
rs144577497 RCV000966148 CA2198052	132	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748512829 CA2198051	132	E>K		No	ClinGen ExAC gnomAD
CA67979670 rs943929856	133	K>N		No	ClinGen Ensembl
rs1333900432 CA351243743	136	V>G		No	ClinGen TOPMed
rs1559355316 CA351243765	138	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2198055 rs61742338	139	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2198054 rs747480411	139	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2198057 rs746117468	140	A>P		No	ClinGen ExAC gnomAD
rs770043605 CA2198058	140	A>V		No	ClinGen ExAC gnomAD
rs1422982749 CA351243793 COSM1752459	141	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1277834565 CA351243811	143	T>I		No	ClinGen TOPMed
CA351243824 rs1238478733	144	S>L		No	ClinGen TOPMed
CA2198060 rs762741903	145	R>G		No	ClinGen ExAC gnomAD
CA2198061 rs763836094	145	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774290330 CA2198062	145	R>S		No	ClinGen ExAC gnomAD
CA2198063 rs190577993	146	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs998109294 CA67979725	147	Q>E		No	ClinGen TOPMed gnomAD
TCGA novel	147	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2198066 rs749941998	150	D>H		No	ClinGen ExAC gnomAD
CA2198065 rs749941998	150	D>N		No	ClinGen ExAC gnomAD
CA351243890 rs1574893691	150	D>V		No	ClinGen Ensembl
TCGA novel	151	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766145038 CA2198067	151	N>D		No	ClinGen ExAC gnomAD
rs1030025828 CA67979731	152	K>E		No	ClinGen TOPMed
CA2198071 rs778235077	155	R>Q		No	ClinGen ExAC
rs1196313290 CA351243968	156	E>G		No	ClinGen gnomAD
CA2198073 rs529591562	160	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA351244046 rs1157441339	162	H>R		No	ClinGen TOPMed
rs1405392125 CA351244043	162	H>Y		No	ClinGen TOPMed
rs142091869 RCV000901247 CA2198074	163	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1396748627 CA351244083	165	T>A		No	ClinGen TOPMed
TCGA novel	166	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754655611 CA2198088	167	D>G		No	ClinGen ExAC gnomAD
CA2198089 rs764595577	169	G>E		No	ClinGen ExAC gnomAD
CA2198091 rs140534535	170	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	170	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2198092 rs781723850 COSM1018570	171	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs140920140 CA2198094	174	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165948361 CA351244232	175	E>*		No	ClinGen gnomAD
rs917530409 RCV001344712 CA67979936	175	E>D		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1214978614 CA351244248	177	S>N		No	ClinGen gnomAD
TCGA novel	178	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2198095 rs145844010 RCV001344787	178	T>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA351244256 rs145844010	178	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2198096 rs376892924	181	D>V		No	ClinGen ESP ExAC gnomAD
rs768858854 CA351244281	182	R>*		No	ClinGen ExAC TOPMed gnomAD
rs962210513 CA67979956	182	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs867701490 CA67979962	183	K>E		No	ClinGen Ensembl
CA351244292 rs1273308921	184	Q>E		No	ClinGen gnomAD
CA2198099 rs778734516	185	K>R		No	ClinGen ExAC
CA351244398 rs1282550270	191	D>Y		No	ClinGen TOPMed
RCV001344247 CA2198101 rs771700832	192	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA67979982 rs1039895833	192	R>H		No	ClinGen TOPMed gnomAD
rs1039895833 RCV001038300	192	R>L		No	ClinVar dbSNP
rs1187483943 CA351244440	193	K>M		No	ClinGen gnomAD
rs1360317240 CA351244482	196	E>D		No	ClinGen TOPMed
rs899655116 CA67980002	196	E>K		No	ClinGen TOPMed
rs1167155308 CA351244546	198	D>E		No	ClinGen gnomAD
rs998455163 CA67980014	199	K>E		No	ClinGen TOPMed
rs1357026931 CA351244594	200	D>A		No	ClinGen TOPMed
TCGA novel	201	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242767057 CA351244690	205	K>E		No	ClinGen TOPMed gnomAD
CA351244796 rs1185563105	208	G>S		No	ClinGen TOPMed gnomAD
CA67980056 rs985242912 CA67980051	209	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA351244844 rs1159490108	210	N>S		No	ClinGen gnomAD
CA351244887 rs1346903519	212	H>R		No	ClinGen TOPMed gnomAD
CA67980062 rs1010160458	213	R>*		No	ClinGen TOPMed gnomAD
rs1482974795 CA351244934	213	R>S		No	ClinGen TOPMed
RCV001214252 rs776250451 CA2198107	213	R>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1395710182 CA351245012	216	E>G		No	ClinGen gnomAD
CA2198109 rs759331602	216	E>K		No	ClinGen ExAC gnomAD
CA2198110 rs534479386	217	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1316584692 CA351245120	221	K>E		No	ClinGen gnomAD
CA67980130 rs976672507	222	A>G		No	ClinGen gnomAD
rs1374541418 CA351245148	222	A>S		No	ClinGen gnomAD
CA351245161 rs752223651	223	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2198112 rs762268229	223	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV001234503 rs752223651 CA2198111	223	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA67980158 rs1020247293	224	A>T		No	ClinGen TOPMed
CA67980164 rs968732305	224	A>V		No	ClinGen TOPMed
VAR_034841 rs3769110 CA2198114	228	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1183121064 CA351245250	230	R>*		No	ClinGen gnomAD
rs1366068006 CA351245251 RCV001325773	230	R>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA351245256 rs1200733981	231	Q>K		No	ClinGen Ensembl
CA67980183 rs917476438	231	Q>R		No	ClinGen TOPMed
rs1462838092 CA351245280	232	K>Q		No	ClinGen TOPMed
rs745667152 CA2198117	233	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1216950602 CA351245309	233	D>V		No	ClinGen gnomAD
rs1697992162 RCV001060163	235	G>missing		No	ClinVar dbSNP
TCGA novel	235	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs895780108 CA67980196	236	N>K		No	ClinGen gnomAD
rs139198405 CA2198118 RCV001323101	237	R>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1338311581 CA351245393	237	R>S		No	ClinGen gnomAD
rs867440025 CA67980207	238	E>G		No	ClinGen TOPMed gnomAD
CA351245400 rs1393608865	238	E>Q		No	ClinGen gnomAD
CA351245417 rs34723381	239	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1337517044 CA351245422	239	R>Q		No	ClinGen gnomAD
CA2198119 rs34723381 VAR_034842	239	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1230750678 CA351245432	240	D>N		No	ClinGen gnomAD
rs748283192 CA2198120	243	S>F		No	ClinGen ExAC gnomAD
CA2198123 rs747007444	244	E>A		No	ClinGen ExAC gnomAD
CA2198122 rs777408567	244	E>K		No	ClinGen ExAC TOPMed gnomAD
RCV001298138 rs575734415 CA2198124	245	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA2198126 rs374590341 RCV001298861	245	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs374590341 CA351245519	245	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs575734415 CA2198125	245	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450465169 CA351245560	247	K>N		No	ClinGen gnomAD
rs899603536 CA67980283	249	T>I		No	ClinGen TOPMed
rs769731021 CA67980278	249	T>S		No	ClinGen Ensembl
rs1430349989 CA351245631	252	K>E		No	ClinGen gnomAD
CA2198129 rs775230430	252	K>N		No	ClinGen ExAC TOPMed gnomAD
rs762490190 CA2198131	253	S>R		No	ClinGen ExAC
CA2198136 rs779874921	255	G>A		No	ClinGen ExAC TOPMed gnomAD
CA67980362 rs779874921	255	G>E		No	ClinGen ExAC TOPMed gnomAD
CA67980361 rs995140471	255	G>R		No	ClinGen TOPMed gnomAD
rs779874921 CA2198135	255	G>V		No	ClinGen ExAC TOPMed gnomAD
rs995140471 CA351245652	255	G>W		No	ClinGen TOPMed gnomAD
CA351245655 rs1194813131	256	G>R		No	ClinGen TOPMed
rs755084625 CA2198140	257	K>E		No	ClinGen ExAC gnomAD
rs768602332	257	K>E	Variant assessed as Somatic; 5.307e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs776957067	258	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2198142 RCV000888132 rs138469421 RCV001729734	260	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1212963366 CA351245713	264	D>G		No	ClinGen TOPMed
rs1303592394 CA351245915	265	R>G		No	ClinGen TOPMed
CA351245930 rs1357160162 COSM1531249	265	R>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs544532079 CA2198144	267	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs544532079 CA2198145	267	R>G		No	ClinGen ExAC TOPMed gnomAD
CA351245958 rs151259641	267	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001062593 CA2198146 rs151259641 COSM1018578	267	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA2198150 rs375427551	270	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs945950148 CA351246033	271	R>P		No	ClinGen TOPMed
CA67980411 rs945950148	271	R>Q		No	ClinGen TOPMed
CA2198151 RCV001345597 rs199726432	271	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1259191666 CA351246061	272	D>E		No	ClinGen gnomAD
rs978733550 CA67980424	272	D>G		No	ClinGen Ensembl
rs1698002423 RCV001232079	272	D>N		No	ClinVar dbSNP
rs1427623845 CA351246069	273	K>E		No	ClinGen gnomAD
CA2198152 rs749032680	277	R>G		No	ClinGen ExAC gnomAD
rs1374232250 RCV001352589	277	R>S		No	ClinVar dbSNP
CA2198154 rs773994646	278	D>G		No	ClinGen ExAC gnomAD
rs368042986 CA2198153	278	D>N		No	ClinGen ESP ExAC gnomAD
CA351246219 rs1406514722 COSM1018582	280	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
RCV001243313 rs761035757 CA2198155	280	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs774045946 CA351246225	281	R>K		No	ClinGen TOPMed
CA67980445 rs774045946	281	R>T		No	ClinGen TOPMed
CA351246240 rs1286972923	282	V>L		No	ClinGen gnomAD
rs146786940 CA2198157	285	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2198158 rs760018145	287	H>L		No	ClinGen ExAC gnomAD
CA67980454 rs951564312	287	H>Q		No	ClinGen TOPMed gnomAD
CA67980446 rs760018145	287	H>R		No	ClinGen ExAC gnomAD
rs1298006189 CA351246355	287	H>Y		No	ClinGen gnomAD
rs950187650 CA67980465	288	S>F		No	ClinGen TOPMed gnomAD
CA351246386 rs1255360121	289	W>R		No	ClinGen TOPMed
rs1213476349 CA351246421	290	D>A		No	ClinGen TOPMed gnomAD
CA2198159 rs765398510	290	D>N		No	ClinGen ExAC gnomAD
rs752716262 CA2198160 RCV001040776	292	D>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs758706689 CA2198161	293	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1260564314 CA351246465	293	R>K		No	ClinGen gnomAD
rs12464423 CA2198162 VAR_051185	295	K>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA891862847 rs1559356336 RCV000723029	295	K>NT		No	ClinGen ClinVar Ensembl dbSNP
CA2198164 rs757139056	296	N>D		No	ClinGen ExAC TOPMed gnomAD
rs147990540 CA351246530	296	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001210234 CA2198167 rs755997378	297	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1574895080 CA351246648	302	P>A		No	ClinGen Ensembl
RCV001244134 CA2198170 rs768143716	303	E>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200303815 CA2198171	304	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA67980563 rs997983485	304	K>R		No	ClinGen TOPMed
CA351246721 rs1290804803	305	K>N		No	ClinGen gnomAD
CA351246709 rs1189384244	305	K>Q		No	ClinGen TOPMed
CA2198199 rs781596344	306	S>P		No	ClinGen ExAC gnomAD
rs139770539 CA67983247	307	A>G		No	ClinGen ESP TOPMed
CA351247821 rs1201886014	307	A>S		No	ClinGen gnomAD
RCV001303501 rs1698195483	308	S>*		No	ClinVar dbSNP
rs1435953330 CA351247893	310	G>E		No	ClinGen TOPMed
CA351247886 rs1206016804	310	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2198200 rs139844491	311	E>K		No	ClinGen ESP ExAC gnomAD
rs770131698 CA2198201	312	M>I		No	ClinGen ExAC TOPMed gnomAD
CA351247914 rs1274735801	312	M>L		No	ClinGen gnomAD
rs778396333 CA67983256	314	K>N		No	ClinGen gnomAD
rs1479988999 CA351248001	315	K>T		No	ClinGen TOPMed gnomAD
rs1304676723 CA351248057	317	S>*		No	ClinGen TOPMed gnomAD
CA67983261 rs145353855	317	S>P		No	ClinGen ESP TOPMed gnomAD
CA2198203 rs201289716	318	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001233666 rs201289716 CA2198202	318	D>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	319	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2198204 rs546990601	321	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs774569036 CA2198205	323	D>E		No	ClinGen ExAC gnomAD
rs1039239605 CA67983310	324	S>P		No	ClinGen TOPMed gnomAD
CA351248145 rs1444924257	324	S>Y		No	ClinGen gnomAD
CA2198206 rs762180112	326	A>S		No	ClinGen ExAC gnomAD
CA351248174 rs1444477348	327	E>K		No	ClinGen TOPMed
CA2198210 rs750603735	328	T>I		No	ClinGen ExAC
rs1222939838 CA351248491	334	T>A		No	ClinGen gnomAD
rs1222939838 CA351248492	334	T>S		No	ClinGen gnomAD
CA67984178 rs1005873296	335	R>S		No	ClinGen TOPMed
rs552073026 CA2198232	335	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1289087785 CA351248526	339	S>L		No	ClinGen TOPMed
rs1378500483 CA351248521	339	S>T		No	ClinGen TOPMed
CA351248576 rs1451387842	347	R>Q		No	ClinGen gnomAD
RCV001212006 rs149016085 CA2198235 COSM1406737	347	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351248579 rs1385154566	348	R>*		No	ClinGen gnomAD
rs369516358 CA67984184	348	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369516358 CA2198237	348	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA351248591 rs1419826656 RCV001060373	350	K>R		No	ClinGen ClinVar dbSNP gnomAD
CA2198238 rs780340828	352	S>L		No	ClinGen ExAC gnomAD
rs755323133 CA2198240	354	E>*		No	ClinGen ExAC gnomAD
CA2198241 rs779591364	354	E>V		No	ClinGen ExAC gnomAD
rs560016209 CA2198275	355	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369712558 CA67987318	356	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA351249105 rs1246793604	356	R>K		No	ClinGen TOPMed
rs369712558 CA2198276	356	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA351249112 rs1472283006	357	K>*		No	ClinGen TOPMed gnomAD
rs1310902651 CA351249141	359	D>N		No	ClinGen TOPMed
CA67987338 rs1045235496	360	N>S		No	ClinGen TOPMed gnomAD
RCV001219145 rs1698484511	361	I>missing		No	ClinVar dbSNP
CA2198277 rs78259781 RCV000900990	361	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351249185 rs776946849 RCV000722227	362	S>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA2198278 rs776946849	362	S>L		No	ClinGen ExAC gnomAD
CA2198279 RCV001209916 rs142329442	364	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2198281 rs558904902	369	I>V		No	ClinGen ExAC gnomAD
CA351249273 rs1308564781	370	V>M		No	ClinGen gnomAD
CA2198284 rs145950318	372	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	376	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2198285 rs761416621	377	P>A		No	ClinGen ExAC gnomAD
CA351249458 rs1459804857	378	N>S		No	ClinGen TOPMed
rs944603598 CA67987397	380	E>A		No	ClinGen Ensembl
CA67987402 rs1052796553	381	T>A		No	ClinGen Ensembl
rs766887017 RCV001233670 CA2198286	381	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs766887017 CA351249525	381	T>R		No	ClinGen ExAC TOPMed gnomAD
CA2198288 RCV001209190 rs760374711	382	T>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2198290 rs570998440	386	I>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2198291 RCV001057038 rs538383901	387	G>*		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs772259614 CA2198308	387	G>A		No	ClinGen ExAC gnomAD
CA67992654 rs772259614	387	G>E		No	ClinGen ExAC gnomAD
rs772259614 CA2198307	387	G>V		No	ClinGen ExAC gnomAD
rs763410508 CA2198309	388	T>I		No	ClinGen ExAC gnomAD
COSM285910 rs1259257948 CA351250919	390	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA351250929 rs1266842284	391	A>G		No	ClinGen TOPMed
rs764320525 CA2198310	391	A>S		No	ClinGen ExAC gnomAD
rs773179499 CA2198311	392	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2198312 rs773179499	392	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1698801280 RCV001314233	396	T>A		No	ClinVar dbSNP
CA2198314 rs781304219	399	S>*		No	ClinGen ExAC gnomAD
CA2198315 rs61756349 RCV000890680	400	D>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780286632 CA2198317 RCV001301053	402	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2198318 rs749420950	403	S>A		No	ClinGen ExAC gnomAD
rs1698802850 RCV001341924	403	S>L		No	ClinVar dbSNP
CA2198319 rs543848897	405	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748184508 CA2198321	406	L>R		No	ClinGen ExAC gnomAD
rs141000731 CA351251028	407	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001057091 rs145346135 CA2198322	407	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760337420 CA67992724	408	C>R		No	ClinGen gnomAD
rs1214154573 CA351251037	409	E>K		No	ClinGen gnomAD
CA2198324 rs746522192	411	I>V		No	ClinGen ExAC gnomAD
rs1464209267 CA351251062	412	Q>P		No	ClinGen TOPMed gnomAD
rs770529009 CA2198325	413	P>L		No	ClinGen ExAC gnomAD
CA2198326 rs776449747	414	N>H		No	ClinGen ExAC TOPMed gnomAD
CA351251076 rs1396703217	414	N>K		No	ClinGen TOPMed
rs577454258 CA2198327	414	N>S		No	ClinGen 1000Genomes ExAC
CA2198328 RCV001212733 rs764563139	415	P>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA351251080 rs1574917127	415	P>S		No	ClinGen Ensembl
RCV001236524 CA2198330 rs762176555	416	T>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs58277463 VAR_061685 CA2198329	416	T>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	416	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA67992740 rs768012332	418	K>N		No	ClinGen ExAC gnomAD
rs1335991702 CA351251570	421	G>D		No	ClinGen TOPMed
rs377236383 CA67995402	424	T>I		No	ClinGen ExAC gnomAD
rs377236383 CA2198375	424	T>N		No	ClinGen ExAC gnomAD
rs763239330 RCV001305310 CA2198374	424	T>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA351251644 rs751411557	426	D>A		No	ClinGen ExAC gnomAD
RCV000935072 CA2198377 rs139202184	426	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751411557 CA2198376	426	D>G		No	ClinGen ExAC gnomAD
CA351251663 rs1307481215	427	A>G		No	ClinGen gnomAD
rs1348285148 CA351232026	429	G>A		No	ClinGen gnomAD
rs1348285148 CA351232025	429	G>E		No	ClinGen gnomAD
rs1305440412 CA351232029	430	D>H		No	ClinGen gnomAD
rs1348139605 CA351232033	430	D>V		No	ClinGen gnomAD
CA2198404 rs140386445	431	A>S		No	ClinGen ESP ExAC TOPMed
rs1269034827 CA351232044	432	G>E		No	ClinGen gnomAD
rs746431524 CA2198406	436	Q>H		No	ClinGen ExAC gnomAD
CA2198405 rs781593880	436	Q>R		No	ClinGen ExAC gnomAD
CA2198407 rs770323993	437	D>G		No	ClinGen ExAC gnomAD
CA351232071 rs1256060517	437	D>N		No	ClinGen gnomAD
CA2198409 rs749408893	440	E>D		No	ClinGen ExAC gnomAD
CA2198408 rs776070080	440	E>G		No	ClinGen ExAC
CA67954327 rs749544012	442	P>S		No	ClinGen TOPMed
rs749544012 CA67954319	442	P>T		No	ClinGen TOPMed
CA2198411 rs774759442	444	T>N		No	ClinGen ExAC gnomAD
CA351232118 rs1200493089	444	T>S		No	ClinGen TOPMed
rs1157890618 CA351232122	445	P>A		No	ClinGen gnomAD
rs767281516 CA2198413	447	I>T		No	ClinGen ExAC gnomAD
CA2198414 COSM720959 rs773044849	448	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1400893534 CA351232148	449	N>D		No	ClinGen gnomAD
TCGA novel	450	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000977279 rs146820102 CA2198415	453	S>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	453	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336125368 CA351232182	454	N>S		No	ClinGen gnomAD
rs753737155 CA2198417	455	I>N		No	ClinGen ExAC gnomAD
CA351232209 rs1385235701	456	R>S		No	ClinGen TOPMed gnomAD
CA67954423 rs919671616	456	R>T		No	ClinGen TOPMed
rs1269315909 CA351232213 RCV001314715	457	R>K		No	ClinGen ClinVar TOPMed dbSNP
CA2198435 rs760551791	460	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760551791 CA2198434	460	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1300880230 RCV001316659 CA351232232	460	R>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1288139080 CA351232244	462	G>A		No	ClinGen TOPMed
rs4474837 CA67954836	463	S>R		No	ClinGen Ensembl
CA351232255 rs1268900484	464	A>S		No	ClinGen gnomAD
rs1574923825 CA351232264	465	R>S		No	ClinGen Ensembl
CA351232267 rs1272780335	466	P>A		No	ClinGen TOPMed
CA2198438 rs764797642	469	P>A		No	ClinGen ExAC gnomAD
CA351232288 rs1435129686	469	P>H		No	ClinGen TOPMed
COSM3380103 CA2198441 rs149500281	470	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2198440 RCV001312396 rs569480234	470	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs751121033 CA2198442	471	V>L		No	ClinGen ExAC gnomAD
rs1433235327 CA351232301	472	K>R		No	ClinGen gnomAD
rs1388231612 CA351232306	473	R>Q		No	ClinGen gnomAD
rs373537340 CA2198443 RCV001071363	473	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA351232539 rs1559369638	476	S>G		No	ClinGen Ensembl
CA2198444 rs780530713	477	M>V		No	ClinGen ExAC gnomAD
rs138390908 CA67954857	478	E>G		No	ClinGen ESP
CA351232554 rs1416006986	478	E>K		No	ClinGen TOPMed
rs754461497 CA2198446	479	A>S		No	ClinGen ExAC gnomAD
rs754461497 CA2198445	479	A>T		No	ClinGen ExAC gnomAD
CA2198447 rs201854804	479	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA67957727 rs924615020	486	G>E		No	ClinGen Ensembl
CA351233159 rs1377719257	487	S>G		No	ClinGen gnomAD
CA351233168 rs1395795971	488	G>S		No	ClinGen gnomAD
rs758554919 CA2198466	491	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2198465 rs753096625 RCV001302161	491	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001338473 rs368040034 CA67957739	493	N>D		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs747324230 CA2198468	495	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1699234403 RCV001299051	497	E>missing		No	ClinVar dbSNP
RCV001243520 rs749867416 CA67957746	497	E>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA351233305 rs1440279802	499	H>Q		No	ClinGen TOPMed
rs1249812090 CA351233308	500	N>D		No	ClinGen gnomAD
TCGA novel	500	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771132134 CA2198469	500	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781336707 CA2198470	501	S>C		No	ClinGen ExAC TOPMed gnomAD
rs745671169 CA2198471	502	D>E		No	ClinGen ExAC gnomAD
CA67957765 rs948857276	503	N>S		No	ClinGen TOPMed gnomAD
CA351233344 rs1157190749	505	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	507	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769527027 CA2198472	508	Q>P		No	ClinGen ExAC
CA351233394 rs1222330154	511	V>M		No	ClinGen TOPMed
rs1288303786 CA351233419	513	A>T		No	ClinGen TOPMed
rs1245844265 CA351233440	515	P>S		No	ClinGen TOPMed
TCGA novel	516	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767282570 CA2198478 RCV001222966	518	S>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	520	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311907915 CA351233496	520	M>V		No	ClinGen TOPMed
CA67957821 rs532037506	521	S>A		No	ClinGen TOPMed gnomAD
CA351233526 rs1395152942	522	E>*		No	ClinGen gnomAD
rs765497080 CA2198481	523	I>M		No	ClinGen ExAC TOPMed gnomAD
rs147241665 CA2198482	525	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA351233643 rs1273570056	527	T>I		No	ClinGen gnomAD
CA351233685 rs1483276334	531	L>V		No	ClinGen gnomAD
TCGA novel	533	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206827108 CA351233731	534	E>G		No	ClinGen gnomAD
CA2198502 rs771658911	535	E>G		No	ClinGen ExAC gnomAD
CA2198501 rs747690881	535	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351234797 rs1476592202	541	V>L		No	ClinGen gnomAD
rs746718215 CA2198524 RCV001236546	542	K>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs770505416 CA2198525	544	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1007633049 CA67959750	545	L>M		No	ClinGen TOPMed
CA67959760 rs1019483434	546	E>K		No	ClinGen Ensembl
RCV001340259 CA2198526 rs141425726	547	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA351234908 rs141425726	547	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165082873 CA351234902	547	T>S		No	ClinGen gnomAD
CA351234915 rs1319766848	548	K>Q		No	ClinGen gnomAD
CA67959767 rs988109528	553	K>R		No	ClinGen Ensembl
CA2198528 rs764473546	554	L>S		No	ClinGen ExAC TOPMed gnomAD
rs762299611 CA2198530	556	Q>H		No	ClinGen ExAC gnomAD
CA67959777 rs914125763	557	S>T		No	ClinGen TOPMed gnomAD
rs767639607 CA2198531	559	K>E		No	ClinGen ExAC gnomAD
CA67959799 rs150033164	560	P>S		No	ClinGen ESP TOPMed gnomAD
rs150033164 CA351235143	560	P>T		No	ClinGen ESP TOPMed gnomAD
CA351235152 rs1229063272	561	G>R		No	ClinGen gnomAD
CA2198532 rs750512823 COSM442593	562	E>K	Variant assessed as Somatic; 4.626e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
RCV001326264 rs760692076 CA2198551	565	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs199812505 CA67990661	565	R>Q		No	ClinGen TOPMed gnomAD
CA351245781 rs1470891102	566	S>F		No	ClinGen gnomAD
rs1170711275 CA351245782 COSM330709	567	L>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs148812100 CA2198553	570	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs189863065 RCV001066720 CA2198555	571	A>T		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA351245819 rs777890791	572	W>*		No	ClinGen ExAC TOPMed
CA2198558 rs777890791	572	W>C		No	ClinGen ExAC TOPMed
CA2198557 rs758203908	572	W>R		No	ClinGen ExAC gnomAD
rs1337585460 CA351245825	573	K>R		No	ClinGen gnomAD
CA67990694 rs533397279	574	K>E		No	ClinGen Ensembl
TCGA novel	574	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351245840 rs1231206401	575	E>G		No	ClinGen TOPMed gnomAD
CA2198559 rs368410651	577	D>G		No	ClinGen ExAC gnomAD
CA351245861 rs1272846490	578	I>F		No	ClinGen gnomAD
rs780746076 CA2198561	579	V>I		No	ClinGen ExAC TOPMed gnomAD
rs779613172 CA2198564	583	I>L		No	ClinGen ExAC gnomAD
CA2198566 rs772372812	583	I>M		No	ClinGen ExAC TOPMed gnomAD
CA351245916 rs1376590702	583	I>T		No	ClinGen gnomAD
CA2198565 rs779613172	583	I>V		No	ClinGen ExAC gnomAD
rs773639842 CA2198567	585	K>E		No	ClinGen ExAC gnomAD
CA2198568 RCV001352481 rs761212435	587	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770983552 CA2198569	587	R>H		No	ClinGen ExAC TOPMed gnomAD
rs201946956 CA2198570	588	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
COSM345301 CA2198574 rs762866672	591	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
RCV001069643 CA351246082 rs1229693908	593	L>P		No	ClinGen ClinVar dbSNP gnomAD
CA351246111 rs757200950	595	K>R		No	ClinGen ExAC gnomAD
CA2198577 rs757200950	595	K>T		No	ClinGen ExAC gnomAD
rs777730727 CA351246160	597	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777730727 CA2198579	597	A>T		No	ClinGen ExAC TOPMed gnomAD
rs548165864 CA2198580	597	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749190959 CA67990864	603	I>T		No	ClinGen Ensembl
CA67990879 rs758802016	604	M>L		No	ClinGen ExAC TOPMed gnomAD
CA2198584 rs199664401	604	M>R		No	ClinGen ExAC TOPMed gnomAD
rs199664401 CA351246285	604	M>T		No	ClinGen ExAC TOPMed gnomAD
rs758802016 CA2198583	604	M>V		No	ClinGen ExAC TOPMed gnomAD
rs747529072 CA2198585	606	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1395247971 CA351246390	610	D>H		No	ClinGen gnomAD
rs771484689 CA2198586	611	V>M		No	ClinGen ExAC gnomAD
rs745979185 CA2198588	614	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1298100861 CA351246504	615	Q>E		No	ClinGen gnomAD
rs769949190 CA2198589	616	N>S		No	ClinGen ExAC TOPMed gnomAD
RCV001053826 rs1701288242	617	E>Q		No	ClinVar dbSNP
VAR_034843 CA2198590 CA2198591 rs3739070 RCV001298773	620	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP
rs774205577 CA2198593	621	W>R		No	ClinGen ExAC
rs1215089908 CA351246695	624	E>D		No	ClinGen TOPMed gnomAD
CA2198594 rs761445578	624	E>K		No	ClinGen ExAC
CA351246764 rs1443516280	628	H>R		No	ClinGen TOPMed
CA67990969 rs1029896702	628	H>Y		No	ClinGen TOPMed
CA351246771 rs1175339243	629	A>T		No	ClinGen gnomAD
rs1263534166 CA351246787	630	E>K		No	ClinGen gnomAD
rs1419397553 CA351246801	631	A>P		No	ClinGen gnomAD
rs185668144 CA67991006	636	Q>E		No	ClinGen Ensembl
CA351246870 rs1187076605	636	Q>L		No	ClinGen gnomAD
rs1161879996 CA351246892	637	R>S		No	ClinGen gnomAD
CA351246897 rs1319981511	638	I>S		No	ClinGen TOPMed
rs757692069 CA2198622	639	T>A		No	ClinGen ExAC gnomAD
CA351246912 rs1313804221	640	D>E		No	ClinGen gnomAD
rs1480959607 CA351246906	640	D>H		No	ClinGen TOPMed gnomAD
rs1480959607 CA351246905	640	D>N		No	ClinGen TOPMed gnomAD
CA351246910 rs1465840913	640	D>V		No	ClinGen TOPMed gnomAD
rs1307451616 CA351246917	641	C>F		No	ClinGen TOPMed
rs199907968 RCV001339161	643	V>L		No	ClinVar dbSNP
rs756698037 CA2198625	646	L>V		No	ClinGen ExAC gnomAD
CA351246970 rs1371952686	649	E>G		No	ClinGen gnomAD
CA351246982 rs201250604	651	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199665200 CA351246981	651	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001348089 CA2198628 rs201250604	651	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA351246989 rs1280733851	652	E>G		No	ClinGen gnomAD
rs980559743 CA67991901	653	L>V		No	ClinGen TOPMed gnomAD
CA2198630 rs748285627	654	E>A		No	ClinGen ExAC gnomAD
TCGA novel	656	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA67991926 rs926394962	658	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	658	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771969150 CA2198631	658	K>R		No	ClinGen ExAC TOPMed gnomAD
CA351247057 CA67991959 rs113619283	659	D>E		No	ClinGen gnomAD
CA2198633 rs772978035	659	D>H		No	ClinGen ExAC TOPMed gnomAD
rs772978035 CA2198632	659	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1433042198 CA351247068	660	Q>R		No	ClinGen gnomAD
CA2198635 rs367937586	663	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	663	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428274674 CA351247125	664	I>F		No	ClinGen gnomAD
rs1261382159 CA351247128	664	I>T		No	ClinGen Ensembl
rs560714219 CA67991978	667	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	668	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759110906 CA2198636	671	I>F		No	ClinGen ExAC gnomAD
RCV001340403 CA67991980 rs370910741	674	N>D		No	ClinGen ClinVar ESP TOPMed dbSNP
rs1299322127 CA351247306	675	E>*		No	ClinGen gnomAD
rs1559402646 CA351247379	678	I>F		No	ClinGen Ensembl
CA2198638 rs149339463	679	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768255999 RCV001211285	682	V>missing		No	ClinVar dbSNP
CA2198640 rs752438613	684	S>G		No	ClinGen ExAC gnomAD
rs1272552244 CA351247520	684	S>I		No	ClinGen TOPMed gnomAD
CA351247518 rs1272552244	684	S>N		No	ClinGen TOPMed gnomAD
rs1701360517 RCV001300444	688	T>*		No	ClinVar dbSNP
CA351247583 rs1308235657	688	T>S		No	ClinGen gnomAD
CA2198642 rs375052092	689	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA67992048 rs878921153	690	R>I		No	ClinGen TOPMed gnomAD
rs878921153 CA351247607	690	R>K		No	ClinGen TOPMed gnomAD
CA67992051 rs994389733	691	R>S		No	ClinGen Ensembl
rs1217074339 CA766731721	692	R>H		No	ClinGen TOPMed

1 associated diseases with Q8TDR0

[MIM: 616629]: Senior-Loken syndrome 9 (SLSN9)

A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:26487268}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:26487268}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q8TDR0

Type	Name	Position	InterPro Accession
domain	TRAF3-interacting protein 1, N-terminal	5 - 116	IPR040468
domain	TRAF3-interacting protein 1, C-terminal domain	532 - 685	IPR041476

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cell projection, cilium Cytoplasm, cytoskeleton, cilium axoneme Cytoplasm, cytoskeleton, cilium basal body	Microtubules (PubMed:12935900) In the cilium, it is observed at the ciliary base, ciliary transition zone and ciliary tip (PubMed:26487268)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
axoneme	The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
ciliary basal body	A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
ciliary base	Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area.
ciliary tip	Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction.
ciliary transition zone	A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm.
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
intraciliary transport particle B	The larger subcomplex of the intraciliary transport particle; characterized complexes have molecular weights around 550 kDa.

1 GO annotations of molecular function

Name	Definition
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.

10 GO annotations of biological process

Name	Definition
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
intraciliary anterograde transport	The directed movement of large protein complexes along microtubules from the cell body toward the tip of a cilium (also called flagellum), mediated by motor proteins.
intraciliary transport	The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
morphogenesis of a polarized epithelium	The morphogenetic process in which the anatomical structures of a polarized epithelium are generated and organized. A polarized epithelium is an epithelium where the epithelial sheet is oriented with respect to the planar axis.
negative regulation of defense response to virus	Any process that stops, prevents or reduces the rate or extent of antiviral mechanisms, thereby facilitating viral replication.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
negative regulation of protein-containing complex assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly.
negative regulation of type I interferon production	Any process that stops, prevents, or reduces the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
regulation of microtubule cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MNAAVVRRTQ	EALGKVIRRP	PLTEKLLSKP	PFRYLHDIIT	EVIRMTGFMK	GLYTDAEMKS
70	80	90	100	110	120
DNVKDKDAKI	SFLQKAIDVV	VMVSGEPLLA	KPARIVAGHE	PERTNELLQI	IGKCCLNKLS
130	140	150	160	170	180
SDDAVRRVLA	GEKGEVKGRA	SLTSRSQELD	NKNVREEESR	VHKNTEDRGD	AEIKERSTSR
190	200	210	220	230	240
DRKQKEELKE	DRKPREKDKD	KEKAKENGGN	RHREGERERA	KARARPDNER	QKDRGNRERD
250	260	270	280	290	300
RDSERKKETE	RKSEGGKEKE	RLRDRDRERD	RDKGKDRDRR	RVKNGEHSWD	LDREKNREHD
310	320	330	340	350	360
KPEKKSASSG	EMSKKLSDGT	FKDSKAETET	EISTRASKSL	TTKTSKRRSK	NSVEGRKEDN
370	380	390	400	410	420
ISAKSLDSIV	SGINNEPNQE	TTTSEIGTKE	ANINSTSISD	DNSASLRCEN	IQPNPTEKQK
430	440	450	460	470	480
GDSTSDAEGD	AGPAGQDKSE	VPETPEIPNE	LSSNIRRIPR	PGSARPAPPR	VKRQDSMEAL
490	500	510	520	530	540
QMDRSGSGKT	VSNVITESHN	SDNEEDDQFV	VEAAPQLSEM	SEIEMVTAVE	LEEEEKHGGL
550	560	570	580	590	600
VKKILETKKD	YEKLQQSPKP	GEKERSLFES	AWKKEKDIVS	KEIEKLRTSI	QTLCKSALPL
610	620	630	640	650	660
GKIMDYIQED	VDAMQNELQM	WHSENRQHAE	ALQQEQRITD	CAVEPLKAEL	AELEQLIKDQ
670	680	690
QDKICAVKAN	ILKNEEKIQK	MVYSINLTSR	R