AiPD: Autoinhibited Protein Database

Q8IY81

Gene name	FTSJ3
Protein name	pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3
Names	Protein ftsJ homolog 3, Putative rRNA methyltransferase 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:117246
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

307-382 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

307-382 (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

12 structures for Q8IY81

Entry ID	Method	Resolution	Chain	Position	Source
8FKP	EM	285 A	SJ	1-847	PDB
8FKQ	EM	276 A	SJ	1-847	PDB
8FKR	EM	289 A	SJ	1-847	PDB
8FKS	EM	288 A	SJ	1-847	PDB
8FKT	EM	281 A	SJ	1-847	PDB
8FKU	EM	282 A	SJ	1-847	PDB
8FKV	EM	247 A	SJ	1-847	PDB
8FKW	EM	250 A	SJ	1-847	PDB
8FKX	EM	259 A	SJ	1-847	PDB
8FKY	EM	267 A	SJ	1-847	PDB
8IR1	EM	330 A	9	1-847	PDB
AF-Q8IY81-F1	Predicted				AlphaFoldDB

759 variants for Q8IY81

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1304507852	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400592501 rs1181646233	2	G>S		No	ClinGen TOPMed gnomAD
CA400592463 rs1259461984	4	K>N		No	ClinGen gnomAD
CA400592468 rs1424921888	4	K>R		No	ClinGen gnomAD
CA8705779 rs768964386	5	G>A		No	ClinGen ExAC gnomAD
CA400592459 rs1257604790	5	G>S		No	ClinGen gnomAD
CA400592442 rs1308670326	6	K>R		No	ClinGen TOPMed
rs747198647 CA8705778	7	V>G		No	ClinGen ExAC gnomAD
rs1261911035 CA400592413	9	K>E		No	ClinGen gnomAD
rs1221165787 CA400592407	9	K>R		No	ClinGen gnomAD
rs780368303 CA8705777	10	S>G		No	ClinGen ExAC gnomAD
rs746025074 CA8705775	17	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1325025812 CA400592286	19	A>S		No	ClinGen gnomAD
CA400592278 rs1442206937	20	K>R		No	ClinGen TOPMed
CA400592244 rs1230195948	23	G>A		No	ClinGen gnomAD
rs1230195948 CA400592245	23	G>D		No	ClinGen gnomAD
CA8705743 rs762604857	24	Y>C		No	ClinGen ExAC
CA400592230 rs1380191187	25	R>H		No	ClinGen gnomAD
CA8705742 rs750376848	26	S>C		No	ClinGen ExAC gnomAD
rs761636452 CA8705740	33	I>M		No	ClinGen ExAC gnomAD
CA8705741 rs765335510	33	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776501683 CA8705739	34	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8705738 rs772138335	38	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1364698514 CA400592150	38	R>H		No	ClinGen TOPMed gnomAD
CA400592154 rs772138335	38	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8705737 rs759834625	40	Q>R		No	ClinGen ExAC gnomAD
CA400592104 rs1195838350	45	A>P		No	ClinGen TOPMed
rs147801800 CA292945273	47	A>G		No	ClinGen 1000Genomes
CA8705734 rs140736206	47	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140736206 CA8705735	47	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	49	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292945269 rs771530380	56	G>E		No	ClinGen Ensembl
CA8705701 rs753792807	58	W>*		No	ClinGen ExAC gnomAD
CA400591985 rs1451489227	62	A>V		No	ClinGen gnomAD
rs755870718 CA8705699	63	A>V		No	ClinGen ExAC
TCGA novel	67	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8705698 rs140700881	67	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482303752 CA400591949	68	V>I		No	ClinGen gnomAD
CA400591948 rs1482303752	68	V>L		No	ClinGen gnomAD
TCGA novel	70	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400591329 rs1567754814	71	L>F		No	ClinGen Ensembl
rs114477398 CA8705696	72	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1296529981 CA400591290	73	V>A		No	ClinGen gnomAD
CA400591293 rs375762808	73	V>L		No	ClinGen ESP ExAC gnomAD
CA8705695 rs375762808	73	V>M		No	ClinGen ESP ExAC gnomAD
CA8705666 rs370864062	80	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8705665 rs777177106	81	K>N		No	ClinGen ExAC gnomAD
rs769382758 CA8705664	82	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748053748 CA8705663	83	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1017705414 CA292944803	83	L>R		No	ClinGen TOPMed
CA400591097 rs1327831675	85	N>H		No	ClinGen gnomAD
CA8705661 rs115628816	85	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA292944802 rs115628816	85	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8705660 rs751363362	86	V>M		No	ClinGen ExAC gnomAD
CA400591070 rs1351653805	87	V>L		No	ClinGen gnomAD
CA400591043 rs1385454198	89	L>H		No	ClinGen gnomAD
CA292944796 rs1026506519	89	L>V		No	ClinGen TOPMed
CA400591030 rs1393411020	90	Q>R		No	ClinGen gnomAD
rs2584625 CA400591021	91	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_023284 rs2584625 CA8705658	91	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8705657 rs753917656	91	Q>H		No	ClinGen ExAC gnomAD
rs1409800586 CA400590982	93	I>V		No	ClinGen TOPMed gnomAD
CA8705656 rs764050450	97	R>C		No	ClinGen ExAC gnomAD
CA400590916 rs1473498848	97	R>H		No	ClinGen gnomAD
TCGA novel	97	R>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292944781 rs778863367	98	C>G		No	ClinGen Ensembl
rs753243085 CA8705654	100	Q>P		No	ClinGen ExAC gnomAD
CA8705633 rs766628176	101	A>D		No	ClinGen ExAC gnomAD
CA8705634 rs752146685	101	A>T		No	ClinGen ExAC gnomAD
CA400590717 rs766628176	101	A>V		No	ClinGen ExAC gnomAD
rs573723572 CA8705630	105	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA400590663 rs1332298794	105	E>Q		No	ClinGen gnomAD
CA400590618 rs1428850259	107	K>N		No	ClinGen gnomAD
rs1174253595 CA400590630	107	K>Q		No	ClinGen gnomAD
rs1004036967 CA292944384	107	K>T		No	ClinGen Ensembl
rs1190927476 CA400590571	110	K>M		No	ClinGen TOPMed
rs1388147854 CA400590583	110	K>Q		No	ClinGen gnomAD
rs1192737267 CA400590560	111	V>F		No	ClinGen gnomAD
rs761565909	114	V>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs199562110 CA8705625	116	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs928218996 CA292944355	120	P>L		No	ClinGen TOPMed
CA8705624 rs775548004	121	N>S		No	ClinGen ExAC gnomAD
CA400590396 rs1165801770	122	V>A		No	ClinGen TOPMed
CA400590398 rs1277250259	122	V>I		No	ClinGen gnomAD
rs1282431681 CA400590381	124	A>T		No	ClinGen gnomAD
rs1450286723 CA400590352	126	W>*		No	ClinGen gnomAD
TCGA novel	126	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758970126 CA8705593	135	H>R		No	ClinGen ExAC gnomAD
CA400590225 rs1206909837	135	H>Y		No	ClinGen gnomAD
rs747668148 CA292944216	138	L>V		No	ClinGen gnomAD
CA400590184 rs1224320237	139	M>T		No	ClinGen gnomAD
rs1366593342 CA400590173	140	A>S		No	ClinGen gnomAD
rs779221212 CA8705591	141	L>V		No	ClinGen ExAC gnomAD
CA8705589 rs753477986	142	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753477986 CA8705590	142	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8705588 rs201604330	142	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8705587 rs760037787	143	L>M		No	ClinGen ExAC TOPMed gnomAD
rs752265280 CA8705586	144	A>T		No	ClinGen ExAC gnomAD
rs767316336 CA8705585	146	D>E		No	ClinGen ExAC TOPMed gnomAD
rs376729856 CA8705583	150	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372104659 CA8705582	150	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1247638093 CA400590073	151	G>D		No	ClinGen gnomAD
rs1460028896 CA400590055	154	F>L		No	ClinGen TOPMed
CA400590053 rs1175354952	154	F>Y		No	ClinGen gnomAD
CA400590045 rs1466292424	155	I>T		No	ClinGen TOPMed gnomAD
CA8705580 rs368348973	155	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs768932835 CA8705579	156	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1469587281 CA400590025	158	V>A		No	ClinGen gnomAD
CA400590024 rs1469587281	158	V>G		No	ClinGen gnomAD
CA400590012 rs1311545956	160	R>H		No	ClinGen gnomAD
CA400590005 rs1276159986	161	S>C		No	ClinGen gnomAD
rs780216779 CA8705577	162	R>C		No	ClinGen ExAC TOPMed gnomAD
rs772089187 CA8705576	162	R>H		No	ClinGen ExAC TOPMed gnomAD
CA400590001 rs772089187	162	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8705575 rs746355517	163	D>N		No	ClinGen ExAC gnomAD
rs1432496779 CA400589985	164	Y>C		No	ClinGen TOPMed gnomAD
CA400589972 rs1288966738	165	Q>R		No	ClinGen gnomAD
CA8705574 rs779455824	176	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs202091645 CA8705572	176	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8705573 rs202091645	176	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8705571 rs777349784	177	R>C		No	ClinGen ExAC TOPMed gnomAD
rs150004510 CA8705570	177	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400589830 rs1336126168	180	A>V		No	ClinGen TOPMed
rs1390001541 CA400589828	181	T>A		No	ClinGen gnomAD
TCGA novel	183	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs981012722 CA292944036	186	S>T		No	ClinGen TOPMed
CA400589760 rs1166914926	188	H>N		No	ClinGen TOPMed gnomAD
rs962346631 CA292944029	188	H>Q		No	ClinGen Ensembl
rs1166914926 CA400589758	188	H>Y		No	ClinGen TOPMed gnomAD
CA8705569 rs767031489	189	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8705568 rs767031489	189	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1262443196 CA400589726	191	A>T		No	ClinGen gnomAD
TCGA novel	191	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	192	E>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754503836 CA400589705	193	I>N		No	ClinGen ExAC gnomAD
rs754503836 CA8705567	193	I>T		No	ClinGen ExAC gnomAD
CA8705565 rs766419847	194	F>S		No	ClinGen ExAC gnomAD
CA400589687 rs1212992599	195	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8705562 rs764185716	199	G>R		No	ClinGen ExAC gnomAD
CA400589610 rs1294632098	199	G>V		No	ClinGen gnomAD
CA292943956 rs915555606	200	F>I		No	ClinGen TOPMed gnomAD
TCGA novel	200	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8705544 rs371048410	202	A>V		No	ClinGen ESP ExAC gnomAD
rs1404076308 CA400589578	203	P>S		No	ClinGen TOPMed
rs374578813 CA8705542	204	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	204	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8705541 rs767638937	209	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1456609717 CA400589492	210	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400589494 rs1293124489	210	F>S		No	ClinGen TOPMed gnomAD
CA400589452 rs1156710492	213	P>L		No	ClinGen TOPMed gnomAD
rs1277203604 CA400589456	213	P>S		No	ClinGen Ensembl
CA8705538 rs139272933	214	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8705539 rs139272933	214	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA292943936 rs373884077	215	F>C		No	ClinGen ESP TOPMed
rs1253256652 CA400589438	215	F>L		No	ClinGen TOPMed
rs749771391 CA8705537	216	A>G		No	ClinGen ExAC gnomAD
rs1014104893 CA292943929	219	E>D		No	ClinGen gnomAD
rs535993552 CA8705536	220	V>A		No	ClinGen ExAC TOPMed gnomAD
rs866980857 CA292943919	221	E>D		No	ClinGen TOPMed
rs780836020 CA8705533	224	A>T		No	ClinGen ExAC gnomAD
CA8705532 rs754698381	225	K>E		No	ClinGen ExAC gnomAD
CA8705531 rs761904927	225	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1286973981 CA400589141	227	V>G		No	ClinGen gnomAD
CA8705529 rs370922839	227	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400589124 rs1241854606	228	T>I		No	ClinGen gnomAD
TCGA novel	229	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750365344 CA8705528	231	V>I		No	ClinGen ExAC TOPMed gnomAD
CA400589034 rs889135352	233	K>N		No	ClinGen TOPMed gnomAD
rs114060701 CA8705527	235	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757010495 CA8705526	235	K>T		No	ClinGen ExAC TOPMed gnomAD
rs745787698	235	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1555577068 CA8705524	236	P>T		No	ClinGen Ensembl
rs771708058 CA8705508	238	A>P		No	ClinGen ExAC TOPMed gnomAD
CA400588876 rs771708058	238	A>T		No	ClinGen ExAC TOPMed gnomAD
CA400588870 rs1452087263	238	A>V		No	ClinGen TOPMed
rs1567753791 CA400588858	239	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8705507 rs745375698	240	G>A		No	ClinGen ExAC gnomAD
rs973791225 CA292943739	241	Y>C		No	ClinGen Ensembl
CA400588795 rs1432606977	242	A>G		No	ClinGen TOPMed gnomAD
rs1171984466 CA400588804	242	A>P		No	ClinGen gnomAD
CA400588792 rs1432606977	242	A>V		No	ClinGen TOPMed gnomAD
rs753629671 CA8705504	243	E>D		No	ClinGen ExAC gnomAD
CA400588733 rs1448521158	244	G>D		No	ClinGen gnomAD
CA292943726 rs986025721	244	G>S		No	ClinGen TOPMed gnomAD
rs1448521158 CA400588726	244	G>V		No	ClinGen gnomAD
CA8705503 rs777521053	246	L>I		No	ClinGen ExAC gnomAD
rs755959447 CA8705502	247	T>A		No	ClinGen ExAC gnomAD
CA8705500 rs751776424	249	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA292943720 rs751776424	249	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs200565432 CA8705499	251	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1256057131 CA400588555	251	R>H		No	ClinGen gnomAD
rs200565432 CA400588567	251	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	254	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400588459 rs1460467110	256	D>Y		No	ClinGen TOPMed
rs1272212120 CA400588392	258	L>F		No	ClinGen gnomAD
CA400588377 rs1339996711	259	R>*		No	ClinGen TOPMed gnomAD
CA8705496 rs762191968	259	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8705495 rs762191968	259	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1598350645 CA400588352	260	A>G		No	ClinGen Ensembl
CA400588360 rs1412886596	260	A>P		No	ClinGen gnomAD
rs201066148 CA8705494	261	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534977992 CA8705492	263	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA400588275 rs200701645	264	V>A		No	ClinGen TOPMed gnomAD
CA292943705 rs200701645	264	V>D		No	ClinGen TOPMed gnomAD
rs775219402 CA8705491	265	D>H		No	ClinGen ExAC gnomAD
CA400588268 rs775219402	265	D>N		No	ClinGen ExAC gnomAD
rs1475445827 CA400588162	269	K>R		No	ClinGen gnomAD
TCGA novel	270	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199700918 CA8705490	271	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8705488 rs778668949	272	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8705464 rs769742109	273	I>F		No	ClinGen ExAC gnomAD
CA292943577 rs116773887	274	M>I		No	ClinGen 1000Genomes TOPMed
CA292943572 rs747894166	276	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8705463 rs747894166	276	D>N		No	ClinGen ExAC TOPMed gnomAD
rs780930796 CA8705462	276	D>V		No	ClinGen ExAC gnomAD
CA400587872 rs747894166	276	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs746067618 CA400587844	277	D>E		No	ClinGen ExAC TOPMed gnomAD
rs754848413 CA8705461	277	D>G		No	ClinGen ExAC gnomAD
CA8705457 rs528345621	278	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs115809493 CA8705459	278	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116694689 CA8705458	278	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567753621 CA400587785	279	E>D		No	ClinGen Ensembl
CA292943551 rs756478154	279	E>K		No	ClinGen Ensembl
rs182489624 CA8705456	281	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756720672 CA400587741	282	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA8705455 rs756720672	282	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8705454 rs753298354	284	P>L		No	ClinGen ExAC TOPMed
rs932875381 CA292943541	285	A>T		No	ClinGen TOPMed
CA400587650 rs1567753603	286	T>I		No	ClinGen Ensembl
CA400587644 rs1267935533	287	T>A		No	ClinGen TOPMed
CA8705453 rs767753368	288	E>K		No	ClinGen ExAC gnomAD
rs773807280 CA8705451	289	D>A		No	ClinGen ExAC gnomAD
CA8705452 rs549164456	289	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400587564 rs1201498117	290	I>T		No	ClinGen TOPMed
CA8705450 rs143751811	291	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs867916796 CA292943528	291	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400587543 rs1598350506	292	V>A		No	ClinGen Ensembl
rs769330844 CA8705447	293	C>Y		No	ClinGen ExAC gnomAD
rs941087293 CA292943515	295	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1567753566 CA400587405	298	R>K		No	ClinGen Ensembl
CA8705444 rs768334485	299	V>A		No	ClinGen ExAC TOPMed gnomAD
rs746827307 CA8705443	301	G>W		No	ClinGen ExAC gnomAD
rs771207063 CA8705441	302	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8705440 rs749340774	302	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8705439 rs777970497	303	K>E		No	ClinGen ExAC gnomAD
CA400587197 rs1326087401	306	R>G		No	ClinGen TOPMed
rs758818019 CA8705414	307	S>L		No	ClinGen ExAC gnomAD
CA8705412 rs148240439	308	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs753414032 CA400586925	311	W>*		No	ClinGen ExAC TOPMed gnomAD
rs753414032 CA8705410	311	W>C		No	ClinGen ExAC TOPMed gnomAD
rs200921516 CA292943328	313	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200921516 CA8705409	313	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1354124034 CA400586868	314	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8705406 rs771981934	316	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149474852 CA8705407	316	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs759407401 CA8705405	317	R>*		No	ClinGen ExAC gnomAD
rs931816922 CA292943311	317	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs773508514 CA8705404	321	K>R		No	ClinGen ExAC TOPMed gnomAD
CA400586645 rs748136302	323	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1474305165 CA400586593	325	E>*		No	ClinGen gnomAD
TCGA novel	327	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776737733 CA8705401	327	A>G		No	ClinGen ExAC TOPMed gnomAD
rs768663581 CA8705400	329	A>T		No	ClinGen ExAC gnomAD
CA8705399 rs747534313	331	D>A		No	ClinGen ExAC gnomAD
rs758697679 CA8705397	332	I>V		No	ClinGen ExAC gnomAD
rs746247221 CA8705396	333	S>N		No	ClinGen ExAC gnomAD
CA400586304 rs1394863131	335	S>C		No	ClinGen TOPMed gnomAD
rs755589919 CA8705371	337	G>R		No	ClinGen ExAC gnomAD
CA292943205 rs887271485	338	E>G		No	ClinGen Ensembl
CA8705368 rs115601892	344	E>D		No	ClinGen 1000Genomes ExAC
rs1376319108 CA400585100	344	E>Q		No	ClinGen Ensembl
rs369386316 CA292943196	345	E>D		No	ClinGen ESP TOPMed gnomAD
CA400585069 rs1439025412	345	E>K		No	ClinGen gnomAD
rs1372096209	345	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170175899 CA400585019	347	S>P		No	ClinGen TOPMed
rs60380208 CA8705365	348	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776844588 CA8705364	349	A>V		No	ClinGen ExAC gnomAD
CA400584958 rs1455134429	350	G>A		No	ClinGen gnomAD
rs1172573896 CA400584948	351	T>S		No	ClinGen gnomAD
CA8705362 rs542147529	351	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201856259 CA400584927	352	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs201856259 CA8705361	352	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1302084902 CA400584855	356	S>C		No	ClinGen TOPMed
rs146889707 CA8705358	356	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs573134286 CA8705357	357	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA400584843 rs1486374248	357	K>R		No	ClinGen gnomAD
rs1226450047 CA400584834	358	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1277106918 CA400584817	359	E>K		No	ClinGen TOPMed
rs777431953 CA8705354	360	E>Q		No	ClinGen ExAC gnomAD
rs1209856227 CA400584745	363	E>K		No	ClinGen TOPMed
CA400584717 rs1390459175	364	E>D		No	ClinGen TOPMed
rs1226772416 CA400584708	365	E>G		No	ClinGen gnomAD
rs780822822 CA8705347	366	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1241044190 CA400584690	366	E>G		No	ClinGen gnomAD
rs780822822 CA8705348	366	E>K		No	ClinGen ExAC TOPMed gnomAD
CA400584694 rs780822822	366	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA400584674 rs1288280736	367	Q>E		No	ClinGen TOPMed
rs1383887086 CA400584628	370	Q>E		No	ClinGen gnomAD
rs754592400 CA8705343	372	L>F		No	ClinGen ExAC gnomAD
CA8705342 rs751536664	373	A>G		No	ClinGen ExAC TOPMed gnomAD
CA400584588 rs1312051804	373	A>T		No	ClinGen gnomAD
rs758152035 CA8705340	374	E>D		No	ClinGen ExAC gnomAD
CA8705341 rs200270895	374	E>K		No	ClinGen ExAC TOPMed gnomAD
CA292943094 rs920331681 CA400584549	375	M>I		No	ClinGen TOPMed gnomAD
CA400584556 rs1245641656	375	M>T		No	ClinGen TOPMed
CA400584523 rs1311048615	377	A>V		No	ClinGen TOPMed
rs750210233 CA8705339	378	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs967209372 CA292943090	378	Q>R		No	ClinGen TOPMed gnomAD
rs764338472 CA8705338	379	E>K		No	ClinGen ExAC gnomAD
rs764338472 CA400584502	379	E>Q		No	ClinGen ExAC gnomAD
rs867316030 CA292943087	381	A>T		No	ClinGen TOPMed gnomAD
CA400584471 rs1486893483	381	A>V		No	ClinGen TOPMed gnomAD
rs767576029 CA8705335	383	L>F		No	ClinGen ExAC gnomAD
CA400584425 rs1272010665	384	K>N		No	ClinGen TOPMed gnomAD
CA8705304 rs375326585	389	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA292942857 rs1019865511	390	L>V		No	ClinGen TOPMed
CA8705302 rs145159931	392	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145159931 CA8705303	392	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8705300 rs1245439560	392	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1217008899 CA400584267	393	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400584224 rs1280249884	396	K>E		No	ClinGen TOPMed
rs945927232 CA292942852	397	Q>H		No	ClinGen Ensembl
rs1318299540 CA400584201	397	Q>R		No	ClinGen TOPMed gnomAD
rs370518967 CA292942848	398	R>G		No	ClinGen ExAC TOPMed gnomAD
rs749097576 CA400584187	398	R>L		No	ClinGen ExAC gnomAD
rs749097576 CA8705298	398	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8705299 rs370518967	398	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8705296 rs548863228	399	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA400584165 rs1454005062	400	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs370870170 CA8705295	400	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370870170 CA8705294	400	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs758570373 CA8705293	401	V>A		No	ClinGen ExAC gnomAD
CA400584125 rs1488882738	403	L>P		No	ClinGen gnomAD
CA8705289 rs777169176	405	M>T		No	ClinGen ExAC TOPMed gnomAD
CA400584082 rs1287929626	406	D>H		No	ClinGen TOPMed gnomAD
CA400584084 rs1287929626	406	D>N		No	ClinGen TOPMed gnomAD
CA8705288 rs760382736	408	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8705287 rs760382736	408	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8705285 rs771482345	412	I>T		No	ClinGen ExAC TOPMed gnomAD
CA400583965 rs1270085141	415	E>D		No	ClinGen gnomAD
rs368385937 CA8705284	415	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs770879027 CA8705282	417	E>D		No	ClinGen ExAC TOPMed gnomAD
CA292942785 rs560652403	420	M>T		No	ClinGen Ensembl
rs2727288 CA8705280 VAR_023285	424	S>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1175815653 CA400583855	424	S>N		No	ClinGen gnomAD
CA292942781 rs2727288	424	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA292942775 rs922710640	425	T>A		No	ClinGen TOPMed
rs563112333 CA8705279	425	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA8705277 rs546051924	427	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8705278 rs755957588	427	R>W		No	ClinGen ExAC gnomAD
rs758351662 CA8705275	429	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	433	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468212917 CA400583688	435	V>I		No	ClinGen TOPMed
CA400583677 rs1319447207	436	T>I		No	ClinGen gnomAD
rs1001759498 CA292940881	437	Q>R		No	ClinGen TOPMed gnomAD
CA8705252 rs754393764	438	G>A		No	ClinGen ExAC gnomAD
rs779116061 CA8705253	438	G>R		No	ClinGen ExAC gnomAD
rs754393764 CA8705251	438	G>V		No	ClinGen ExAC gnomAD
CA8705249 rs776832064	439	D>H		No	ClinGen ExAC gnomAD
CA292940855 rs377754710	440	M>T		No	ClinGen gnomAD
CA400583658 rs1396757475	440	M>V		No	ClinGen gnomAD
CA292940845 rs904760080	443	A>V		No	ClinGen TOPMed
CA8705248 rs753129963	444	D>H		No	ClinGen ExAC gnomAD
TCGA novel	444	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202080801 CA8705247	445	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs202080801 CA400583621	445	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA292940822 rs753318540	446	F>C		No	ClinGen Ensembl
rs757503012 CA292940825	446	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400583614 rs919221861	447	L>M		No	ClinGen Ensembl
CA292940819 rs919221861	447	L>V		No	ClinGen Ensembl
rs1171235923 CA400583605	448	S>F		No	ClinGen gnomAD
rs960576651 CA292940814	449	D>E		No	ClinGen Ensembl
rs550844629 CA8705244	449	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400583604 rs550844629	449	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8705245 rs550844629	449	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA292940812 rs565282530	454	D>G		No	ClinGen TOPMed
rs747572988	454	D>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs61747443 CA8705242	456	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400583484 rs1458685970	457	V>A		No	ClinGen TOPMed gnomAD
CA8705237 rs768385795	461	E>A		No	ClinGen ExAC TOPMed gnomAD
rs776454299 CA8705238	461	E>K		No	ClinGen ExAC gnomAD
rs764463921 CA400583402	463	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8705235 rs764463921	463	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1305082014 CA400583396	463	D>V		No	ClinGen gnomAD
CA8705234 rs771068411	464	G>A		No	ClinGen ExAC TOPMed gnomAD
CA292940752 rs771068411	464	G>D		No	ClinGen ExAC TOPMed gnomAD
CA400583390 rs1242611705	464	G>S		No	ClinGen gnomAD
rs749396719 CA8705233	467	T>A		No	ClinGen ExAC TOPMed gnomAD
CA400583282 rs1388470330	471	S>N		No	ClinGen gnomAD
rs756678526 CA8705231	472	D>N		No	ClinGen ExAC gnomAD
CA8705229 rs781604239	474	D>N		No	ClinGen ExAC TOPMed gnomAD
CA400583216 rs1469159794	475	P>R		No	ClinGen TOPMed
CA292940738 rs148527553	476	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA292940731 rs755361146	477	E>*		No	ClinGen ExAC TOPMed gnomAD
rs751142403 CA8705227	477	E>G		No	ClinGen ExAC gnomAD
CA8705228 rs755361146	477	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1192464712 CA400583166	479	A>G		No	ClinGen gnomAD
rs766032190 CA8705226	480	G>*		No	ClinGen ExAC gnomAD
CA400583141 rs1169232634	481	V>G		No	ClinGen TOPMed gnomAD
CA292940728 rs756239766	482	R>G		No	ClinGen TOPMed gnomAD
CA400583138 rs756239766	482	R>W		No	ClinGen TOPMed gnomAD
CA8705224 rs757854130	483	G>E		No	ClinGen ExAC gnomAD
rs1416484679 CA400583106	484	H>R		No	ClinGen TOPMed
TCGA novel	485	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749964999 CA8705223	487	L>P		No	ClinGen ExAC gnomAD
CA400583040 rs1372250555	489	D>G		No	ClinGen TOPMed gnomAD
rs761788803 CA8705221	489	D>N		No	ClinGen ExAC gnomAD
rs1166586055 CA400583012	491	K>R		No	ClinGen TOPMed
CA8705219 rs375890755	492	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA292940714 rs145710929	492	R>H		No	ClinGen ESP TOPMed
CA8705220 rs375890755	492	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767462503 CA8705197	494	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA292940607 rs930330036	495	L>I		No	ClinGen Ensembl
rs1278050817 CA400582899	497	E>*		No	ClinGen TOPMed
rs1478330300 CA400582892	498	V>L		No	ClinGen gnomAD
CA8705195 rs773370128	499	Q>R		No	ClinGen ExAC
CA8705194 rs183994225	500	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777145453 CA8705192	501	D>G		No	ClinGen ExAC gnomAD
rs1280162184 CA400582865	502	K>E		No	ClinGen TOPMed
CA8705188 rs780372823	503	E>G		No	ClinGen ExAC gnomAD
rs747553034 CA8705190	503	E>K		No	ClinGen ExAC
CA8705185 rs758822183	504	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA292940507 rs144579102	505	E>D		No	ClinGen ESP
rs761475887 CA8705184	505	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8705183 rs778434607	507	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1174229530 CA400582815	509	N>D		No	ClinGen TOPMed
rs1174229530 CA400582816	509	N>H		No	ClinGen TOPMed
CA8705178 rs753315010	509	N>S		No	ClinGen ExAC gnomAD
CA400582805 rs1397540765	510	P>R		No	ClinGen gnomAD
rs376119296 CA8705176	511	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs750597049 CA8705172	517	E>K		No	ClinGen ExAC gnomAD
CA8705171 rs765397726	518	K>N		No	ClinGen ExAC gnomAD
rs761911337 CA8705170	520	V>L		No	ClinGen ExAC gnomAD
CA400582698 rs1200384244	527	N>S		No	ClinGen gnomAD
CA400582687 rs1172882485	529	W>R		No	ClinGen gnomAD
CA400582659 rs1237101186	532	K>N		No	ClinGen TOPMed
CA400582642 rs1351032265	533	G>D		No	ClinGen gnomAD
CA8705143 rs772590864	534	S>G		No	ClinGen ExAC gnomAD
rs372743428 CA400582637	534	S>N		No	ClinGen ESP ExAC gnomAD
rs114963947 CA8705141	534	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8705142 rs372743428	534	S>T		No	ClinGen ESP ExAC gnomAD
rs1236246258 CA400582619	536	A>P		No	ClinGen TOPMed gnomAD
CA8705138 rs773000789	538	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	539	E>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8705136 rs747680587	543	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs930358885 CA292940249	545	A>T		No	ClinGen Ensembl
CA400582492 rs1189329934	547	E>D		No	ClinGen gnomAD
CA8705133 rs754838933	551	A>S		No	ClinGen ExAC TOPMed gnomAD
rs747013764 CA8705132	553	L>P		No	ClinGen ExAC TOPMed gnomAD
rs747013764 CA400582437	553	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs758278752 CA8705130	554	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8705129 rs753993771	555	F>L		No	ClinGen ExAC gnomAD
CA8705128 rs764314785	555	F>S		No	ClinGen ExAC gnomAD
CA8705127 rs115313967	556	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8705125 rs767627323	558	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA400582406 rs1368914397	558	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400582402 rs142875570	559	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142875570 CA8705123	559	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs759940040 CA8705124	559	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8705122 rs766652641	560	K>T		No	ClinGen ExAC TOPMed gnomAD
rs368767519 CA400582379	562	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs116137638 CA8705120	562	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116137638 CA8705119	562	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8705121 rs368767519	562	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs947869949 CA292940173	563	Q>H		No	ClinGen TOPMed
rs747839904 CA8705117	564	Q>R		No	ClinGen ExAC TOPMed
CA8705116 rs776256708	565	Q>K		No	ClinGen ExAC gnomAD
CA400582292 rs546579575	567	K>E		No	ClinGen 1000Genomes
CA8705112 rs546579575	567	K>Q		No	ClinGen 1000Genomes
rs1265097416 CA400582258	568	Q>H		No	ClinGen TOPMed gnomAD
CA400582240 rs1361739544	569	Q>H		No	ClinGen TOPMed
CA400582248 rs1598348963	569	Q>P		No	ClinGen Ensembl
rs1372338554 CA8705107	570	L>P		No	ClinGen Ensembl
rs1372338554 CA400582231	570	L>Q		No	ClinGen Ensembl
TCGA novel	572	Q>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482718696 CA400582150	574	P>H		No	ClinGen gnomAD
CA400582140 rs1482718696	574	P>L		No	ClinGen gnomAD
CA8705106 rs374584906	575	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA400582128 rs1598348944	575	P>L		No	ClinGen Ensembl
rs1211580565 CA400582112	577	C>R		No	ClinGen gnomAD
rs780046157 CA8705105	577	C>S		No	ClinGen ExAC TOPMed gnomAD
rs780046157 CA400582106	577	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA8705103 rs745687474	579	K>T		No	ClinGen ExAC gnomAD
rs777932802 CA8705102	580	T>A		No	ClinGen ExAC gnomAD
CA8705101 rs756300931	581	E>Q		No	ClinGen ExAC gnomAD
rs767485746 CA8705098	582	I>M		No	ClinGen ExAC gnomAD
rs888253206 CA292940125	583	M>T		No	ClinGen TOPMed gnomAD
rs1598348922 CA400581972	586	L>P		No	ClinGen Ensembl
rs1240949270 CA400581939	588	Q>P		No	ClinGen TOPMed
rs1464014883 CA400581907	589	D>E		No	ClinGen gnomAD
CA400581915 rs1286564859	589	D>G		No	ClinGen TOPMed
CA400581924 rs1330541039	589	D>H		No	ClinGen gnomAD
rs1347074748 CA400581902	590	E>K		No	ClinGen TOPMed
CA8705094 rs766927309	590	E>V		No	ClinGen ExAC gnomAD
rs1423070941 CA400581866	592	P>A		No	ClinGen gnomAD
rs1048320560 CA292940100	592	P>R		No	ClinGen TOPMed
CA400581863 rs1423070941	592	P>S		No	ClinGen gnomAD
rs765743961 CA8705091	596	E>V		No	ClinGen ExAC gnomAD
CA400581783 rs1459471593	598	S>A		No	ClinGen TOPMed gnomAD
CA8705090 rs61742931	598	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8705089 rs776493969	599	S>L		No	ClinGen ExAC TOPMed gnomAD
rs760247360 CA8705087	602	E>K		No	ClinGen ExAC gnomAD
CA8705086 rs560942264	603	A>P		No	ClinGen 1000Genomes ExAC
CA292940060 rs560942264	603	A>T		No	ClinGen 1000Genomes ExAC
CA8705084 rs772079780	605	T>A		No	ClinGen ExAC gnomAD
TCGA novel	607	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778660673 CA8705081	607	L>R		No	ClinGen ExAC gnomAD
CA400581638 rs1332018072	608	E>K		No	ClinGen gnomAD
CA8705080 rs575324266	609	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1598348858 CA400581597	610	E>G		No	ClinGen Ensembl
rs1166389706 CA400581608	610	E>K		No	ClinGen gnomAD
rs781485517 CA8705078	612	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1487685549 CA400581459	618	S>R		No	ClinGen gnomAD
CA400581421 rs1267607354	620	S>G		No	ClinGen gnomAD
rs1007733585 CA292940026	622	T>I		No	ClinGen TOPMed gnomAD
rs1007733585 CA400581380	622	T>N		No	ClinGen TOPMed gnomAD
CA8705076 rs751687273	623	S>N		No	ClinGen ExAC gnomAD
CA292940019 rs766730778	625	E>K		No	ClinGen Ensembl
CA8705073 rs780034648	626	E>D		No	ClinGen ExAC gnomAD
CA292939984 rs765433762	626	E>K		No	ClinGen Ensembl
rs373238608 CA8705072	627	E>G		No	ClinGen ExAC TOPMed gnomAD
rs373238608 CA8705071	627	E>V		No	ClinGen ExAC TOPMed gnomAD
CA8705068 rs200943728	628	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567751654 CA400581281	628	E>D		No	ClinGen Ensembl
CA8705069 rs200943728	628	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8705070 rs61741254	628	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1386146996 CA400581277	629	S>G		No	ClinGen gnomAD
rs769532374 CA8705030	629	S>R		No	ClinGen ExAC TOPMed gnomAD
rs989416143 CA292939804	630	W>*		No	ClinGen TOPMed gnomAD
rs369847580 CA8705029	631	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8705027 rs772221183	632	P>A		No	ClinGen ExAC gnomAD
CA8705028 rs772221183	632	P>S		No	ClinGen ExAC gnomAD
rs1465576345 CA400580118	633	L>F		No	ClinGen gnomAD
rs145334305 CA8705025	634	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs371917574 CA8705024	634	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141577537 CA8705023	635	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141577537 CA8705022	635	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1053708501 CA292939749	636	K>T		No	ClinGen Ensembl
CA400580039 rs1357453628	638	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1185714709 CA400580038	638	R>Q		No	ClinGen gnomAD
CA8705021 rs138518008	640	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368535844 CA8705019	640	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368535844 CA8705020	640	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754441274 CA8705018	641	G>R		No	ClinGen ExAC gnomAD
rs145182298 CA8705017	642	P>R		No	ClinGen ESP ExAC gnomAD
rs1256149402 CA400579946	646	D>V		No	ClinGen gnomAD
rs1567751459	647	D>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs149209816 CA8705014	648	G>E		No	ClinGen ESP ExAC gnomAD
CA8705015 CA400579927 rs762933027	648	G>R		No	ClinGen ExAC TOPMed gnomAD
rs149209816 CA8705013	648	G>V		No	ClinGen ESP ExAC gnomAD
CA292939705 rs944767208	650	E>D		No	ClinGen Ensembl
CA400579894 rs1237725272	650	E>G		No	ClinGen TOPMed
CA8705012 rs761525674	651	I>L		No	ClinGen ExAC gnomAD
CA400579866 rs1341681444	653	P>S		No	ClinGen gnomAD
CA292939699 rs374459237	654	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs746133219 CA8705009	654	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8705010 rs374459237	654	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8705008 rs774551066	655	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1410830405 CA400579818	657	P>L		No	ClinGen gnomAD
CA8704981 rs779693529	658	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8704982 rs779693529	658	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8704977 rs757121437	659	K>E		No	ClinGen ExAC gnomAD
CA8704978 rs757121437	659	K>Q		No	ClinGen ExAC gnomAD
rs200808492 CA8704976	660	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8704975 rs763978409	661	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1215483104 CA400579749	661	R>W		No	ClinGen TOPMed gnomAD
CA8704974 rs545130754	662	I>T		No	ClinGen 1000Genomes ExAC
rs1196339060 CA400579731	663	L>Q		No	ClinGen TOPMed
CA8704972 rs200615117	666	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA400579702 rs1212852606	667	G>D		No	ClinGen TOPMed
rs763053621 CA8704971	667	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8704970 rs138285537	668	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA292939523 rs943858693	671	G>C		No	ClinGen Ensembl
CA8704969 rs769972059	671	G>D		No	ClinGen ExAC gnomAD
rs1598348533 CA400579679	672	A>T		No	ClinGen Ensembl
rs114729867 CA400579664	674	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114729867 CA8704967	674	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1398402772 CA400579666	674	I>V		No	ClinGen gnomAD
rs1159920034 CA400579639	678	K>R		No	ClinGen TOPMed gnomAD
rs768950577 CA8704966	679	K>M		No	ClinGen ExAC gnomAD
TCGA novel	680	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8704965 rs140503316	681	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA292939494 rs1027154395	683	D>E		No	ClinGen TOPMed
CA8704963 rs771592744	683	D>H		No	ClinGen ExAC TOPMed gnomAD
CA400579608 rs771592744	683	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778274921 CA8704962	684	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8704961 rs778274921	684	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8704960 rs756860868	685	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1215839914 CA400579592	686	D>N		No	ClinGen gnomAD
CA292939483 rs771488349	687	N>D		No	ClinGen TOPMed gnomAD
rs753764737 CA8704959	688	S>A		No	ClinGen ExAC gnomAD
rs1324648548 CA400579555	691	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8704957 rs199519029	691	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1567751138 CA400579484	697	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8704938 rs770549242	698	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1463818966 CA400579462	699	G>R		No	ClinGen gnomAD
CA400579456 rs1356070906	699	G>V		No	ClinGen gnomAD
CA8704936 rs777819059	700	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8704937 rs748854023	700	E>V		No	ClinGen ExAC gnomAD
rs756071546 CA8704935	702	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1184871415 CA400579396	705	F>S		No	ClinGen TOPMed gnomAD
rs780786739 CA8704933	706	V>G		No	ClinGen ExAC gnomAD
rs1277743994 CA400579375	707	Q>R		No	ClinGen TOPMed
CA292939155 rs528270360	710	K>Q		No	ClinGen 1000Genomes
rs1177347123 CA400579312	712	H>Q		No	ClinGen TOPMed gnomAD
CA400579319 rs1238052675	712	H>Y		No	ClinGen gnomAD
CA400579310 rs754872513	713	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8704931 rs369456456	713	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8704932 rs754872513	713	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1320134338 CA400579303	714	I>L		No	ClinGen gnomAD
TCGA novel	715	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400579288 rs1294267154	715	R>Q		No	ClinGen TOPMed gnomAD
rs1008064105 CA292939110	717	L>*		No	ClinGen Ensembl
rs1396084948 CA400579259	718	P>R		No	ClinGen gnomAD
CA400579262 rs1376278641	718	P>S		No	ClinGen gnomAD
rs115348708 CA8704928	719	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769328765	722	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8704927 rs764181990	722	K>E		No	ClinGen ExAC TOPMed gnomAD
CA400579208 rs1298532717	723	E>G		No	ClinGen gnomAD
rs761111756 CA8704925	724	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400579193 rs1347734614	725	E>K		No	ClinGen gnomAD
CA8704924 rs776067240	726	H>Q		No	ClinGen ExAC gnomAD
CA8704923 rs767767668	727	Y>H		No	ClinGen ExAC gnomAD
rs542345969 CA8704921	728	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8704922 rs760000353	728	R>W		No	ClinGen ExAC TOPMed gnomAD
rs144719287 CA8704919	730	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8704918 rs528928402	730	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1049792654 CA292939066	731	W>*		No	ClinGen TOPMed
rs375272670 CA8704916	732	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8704917 rs142363194	732	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA292939050 rs919487167	733	E>A		No	ClinGen TOPMed gnomAD
CA400579112 rs919487167	733	E>G		No	ClinGen TOPMed gnomAD
rs867373418 CA292939040	734	I>V		No	ClinGen Ensembl
rs1241365453 CA400579086	735	N>S		No	ClinGen gnomAD
CA400579081 rs1307676461	736	A>T		No	ClinGen gnomAD
rs746863615 CA8704913	737	R>C		No	ClinGen ExAC TOPMed gnomAD
CA292939023 rs746863615	737	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8704912 rs114804385	737	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8704911 rs372171621	738	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8704910 rs147658341	739	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs866311658 CA292938999	740	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8704909 rs777762622	740	K>R		No	ClinGen ExAC gnomAD
TCGA novel	741	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1028089465 CA292938984	747	A>T		No	ClinGen Ensembl
CA8704907 rs753129174	748	R>K		No	ClinGen ExAC gnomAD
rs1431760456 CA400578943	750	K>N		No	ClinGen gnomAD
CA400578939 rs1431923655	751	R>K		No	ClinGen gnomAD
rs1414339221 CA400578924	752	R>S		No	ClinGen TOPMed
rs1211846405 CA400578871	753	M>I		No	ClinGen TOPMed
rs202101775 CA8704875	754	L>V		No	ClinGen ExAC TOPMed gnomAD
CA400578849 rs1268001769	756	R>K		No	ClinGen gnomAD
rs776158956 CA8704872	756	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1326720620 CA400578843	757	L>M		No	ClinGen gnomAD
rs1482843115 CA400578839	757	L>P		No	ClinGen TOPMed gnomAD
CA400578833 rs1598348082	758	E>G		No	ClinGen Ensembl
CA400578836 rs1449888266	758	E>Q		No	ClinGen gnomAD
CA8704870 rs760593139	760	T>I		No	ClinGen ExAC gnomAD
CA8704869 rs775471751	761	R>K		No	ClinGen ExAC TOPMed gnomAD
CA292938774 rs113834233	763	K>E		No	ClinGen Ensembl
rs771839522 CA8704868	764	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400578769 rs1394790162	764	A>V		No	ClinGen gnomAD
rs745710009 CA8704867	765	E>D		No	ClinGen ExAC TOPMed
CA8704866 rs777938648	766	A>G		No	ClinGen ExAC gnomAD
CA292938769 rs535576913	766	A>T		No	ClinGen 1000Genomes
CA400578752 rs748336705	767	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748336705 CA8704864	767	V>M		No	ClinGen ExAC TOPMed gnomAD
rs755085080 CA8704863	768	V>A		No	ClinGen ExAC gnomAD
rs755085080 CA8704862	768	V>G		No	ClinGen ExAC gnomAD
CA400578742 rs1598348059	768	V>M		No	ClinGen Ensembl
rs1217878698 CA400578736	769	N>D		No	ClinGen TOPMed gnomAD
CA8704860 rs115666825	769	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758808221 CA8704859	770	T>I		No	ClinGen ExAC gnomAD
rs758808221 CA400578373	770	T>K		No	ClinGen ExAC gnomAD
rs1046696935 CA292938724	771	V>G		No	ClinGen Ensembl
CA8704857 rs765544044	772	D>H		No	ClinGen ExAC
TCGA novel	773	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8704855 rs756877415	773	I>S		No	ClinGen ExAC gnomAD
CA400578310 rs753437920	776	R>*		No	ClinGen ExAC TOPMed gnomAD
rs753437920 CA8704854	776	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8704852 rs760234926	776	R>P		No	ClinGen ExAC TOPMed gnomAD
rs760234926 CA8704853	776	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8704849 CA292938666 rs185973898	777	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8704850 rs767480122	777	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs898084442 CA292938671	777	E>V		No	ClinGen TOPMed
rs1446715814 CA400578299	778	K>R		No	ClinGen gnomAD
rs774079721 CA8704848	779	V>L		No	ClinGen ExAC gnomAD
rs1567750850 CA400578284	781	Q>*		No	ClinGen Ensembl
CA8704846 rs748401152	783	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776780004 CA8704845	783	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400578260 rs1426579345	784	S>T		No	ClinGen gnomAD
rs201190672 CA8704820	788	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs779346380 CA8704818	788	K>N		No	ClinGen ExAC gnomAD
CA8704819 rs200242137	788	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477602373 CA400578162	790	G>E		No	ClinGen TOPMed
CA400578167 rs1185352132	790	G>R		No	ClinGen gnomAD
TCGA novel	792	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8704817 rs771304846	792	G>S		No	ClinGen ExAC gnomAD
CA400578138 rs1277830325	793	K>E		No	ClinGen gnomAD
rs749652084 CA8704816	793	K>R		No	ClinGen ExAC gnomAD
rs377705927 CA8704815	795	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs377705927 CA8704814	795	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401208010 CA400578107	796	R>C		No	ClinGen TOPMed gnomAD
CA8704813 rs752355649	796	R>H	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780609940 CA8704812	797	H>R		No	ClinGen ExAC gnomAD
rs751496618 CA8704810	798	V>L		No	ClinGen ExAC gnomAD
CA8704807 rs750138661	801	V>D		No	ClinGen ExAC gnomAD
rs762982336 CA8704808	801	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	803	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598347927 CA400578044	803	A>V		No	ClinGen Ensembl
rs201755066 CA400578014	806	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8704806 rs201755066	806	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	806	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370085151 CA8704805	806	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400578006 rs1205918951	807	V>L		No	ClinGen gnomAD
CA400578008 rs1205918951	807	V>M		No	ClinGen gnomAD
rs1279734350 CA400577992	808	G>A		No	ClinGen TOPMed
CA8704803 rs772264343	809	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759584076 CA8704802	809	R>H		No	ClinGen ExAC gnomAD
rs1243816525 CA400577979	810	K>E		No	ClinGen TOPMed
CA8704801 rs774889086	811	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8704800 rs771302233	812	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749821889 CA8704799	812	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372869515 CA8704797	813	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8704798 rs376996404	813	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs754457858 CA8704794	815	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8704793 rs754457858	815	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8704792 rs750995958	815	A>V		No	ClinGen ExAC gnomAD
rs750381400 CA400577919	816	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750381400 CA8704789	816	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779641176 CA8704791	816	G>R		No	ClinGen ExAC gnomAD
rs750381400 CA8704790	816	G>V		No	ClinGen ExAC TOPMed gnomAD
rs767892003 CA8704785	818	R>T		No	ClinGen ExAC gnomAD
CA8704784 rs759832303	819	G>D		No	ClinGen ExAC TOPMed gnomAD
rs895432096 CA292938262	819	G>S		No	ClinGen Ensembl
rs774244917 CA8704783	820	H>R		No	ClinGen ExAC gnomAD
CA8704782 rs771053578	822	K>R		No	ClinGen ExAC gnomAD
rs1274034893 CA400577812	824	V>G		No	ClinGen TOPMed gnomAD
rs763299454 CA8704781	824	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1245271073 CA400577769	828	M>T		No	ClinGen gnomAD
rs201676074 CA8704780	830	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1383511337 CA400577728	831	D>G		No	ClinGen gnomAD
CA400577710 rs1297388737	832	Q>R		No	ClinGen gnomAD
rs1439802345 CA400577664	835	Q>*		No	ClinGen gnomAD
CA8704778 rs770124798	837	R>C		No	ClinGen ExAC TOPMed gnomAD
rs144046237 CA8704776	837	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8704777 rs144046237	837	R>L		No	ClinGen ExAC TOPMed gnomAD
CA292938236 rs770124798	837	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1165000367 CA400577609	839	E>K		No	ClinGen gnomAD
CA627149124 rs1373332673	840	Q>G		No	ClinGen gnomAD
CA8704774 rs768148368	840	Q>K		No	ClinGen ExAC gnomAD
rs1214555382 CA400577580	840	Q>P		No	ClinGen TOPMed
CA400577549 rs1175828819	841	K>E		No	ClinGen gnomAD
CA400577545 rs1481834939	841	K>R		No	ClinGen gnomAD
CA400577544 rs1481834939	841	K>T		No	ClinGen gnomAD
CA400577529 rs1567750609	842	K>R		No	ClinGen Ensembl
rs757994274 CA8704771	844	H>Q		No	ClinGen ExAC gnomAD
rs779042374 CA8704768	846	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8704769 rs114763743	846	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8704765 rs753644776	848	K>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8IY81

3 regional properties for Q8IY81

Type	Name	Position	InterPro Accession
domain	Ribosomal RNA methyltransferase, FtsJ domain	24 - 200	IPR002877
domain	Ribosomal RNA methyltransferase, SPB1-like, C-terminal	626 - 839	IPR012920
domain	Ribosomal RNA methyltransferase Spb1, domain of unknown function DUF3381	232 - 400	IPR024576

Functions

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

5 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
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.
preribosome, large subunit precursor	A preribosomal complex consisting of 27SA, 27SB, and/or 7S pre-rRNA, 5S rRNA, ribosomal proteins including late-associating large subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic large ribosomal subunit.
preribosome, small subunit precursor	A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit.

5 GO annotations of molecular function

Name	Definition
RNA 2'-O-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + RNA = S-adenosyl-L-homocysteine + RNA containing 2'-O-methylribonucleotide.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA methyltransferase activity	Catalysis of the transfer of a methyl group from a donor to a nucleoside residue in an RNA molecule.
rRNA (guanine) methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + rRNA = S-adenosyl-L-homocysteine + rRNA containing methylguanine.
rRNA (uridine-2'-O-)-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + rRNA = S-adenosyl-L-homocysteine + rRNA containing 2'-O-methyluridine.

5 GO annotations of biological process

Name	Definition
enzyme-directed rRNA 2'-O-methylation	The addition of methyl groups to the 2'-oxygen atom of nucleotide residues in an rRNA molecule during ribosome biogenesis where the methylase specifies the site that becomes methylated without using a guide RNA.
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Any process involved in the maturation of an rRNA molecule originally produced as part of a tricistronic rRNA transcript that contained the Small SubUnit (SSU) rRNA, the 5.8S rRNA, and the Large SubUnit (LSU) rRNA, in that order, from 5' to 3' along the primary transcript.
maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.
RNA methylation	Posttranscriptional addition of a methyl group to either a nucleotide or 2'-O ribose in a polyribonucleotide. Usually uses S-adenosylmethionine as a cofactor.
rRNA methylation	The posttranscriptional addition of methyl groups to specific residues in an rRNA molecule.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZKM1	FTSJ3	pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3	Gallus gallus (Chicken)	PR
Q9DBE9	Ftsj3	pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGKKGKVGKS	RRDKFYHLAK	ETGYRSRSAF	KLIQLNRRFQ	FLQKARALLD	LCAAPGGWLQ
70	80	90	100	110	120
VAAKFMPVSS	LIVGVDLVPI	KPLPNVVTLQ	QDITTERCRQ	ALRKELKTWK	VDVVLNDGAP
130	140	150	160	170	180
NVGASWVHDA	YSQAHLTLMA	LRLACDFLAR	GGSFITKVFR	SRDYQPLLWI	FQQLFRRVQA
190	200	210	220	230	240
TKPQASRHES	AEIFVVCQGF	LAPDKVDSKF	FDPKFAFKEV	EVQAKTVTEL	VTKKKPKAEG
250	260	270	280	290	300
YAEGDLTLYH	RTSVTDFLRA	ANPVDFLSKA	SEIMVDDEEL	AQHPATTEDI	RVCCQDIRVL
310	320	330	340	350	360
GRKELRSLLN	WRTKLRRYVA	KKLKEQAKAL	DISLSSGEED	EGDEEDSTAG	TTKQPSKEEE
370	380	390	400	410	420
EEEEEEQLNQ	TLAEMKAQEV	AELKRKKKKL	LREQRKQRER	VELKMDLPGV	SIADEGETGM
430	440	450	460	470	480
FSLSTIRGHQ	LLEEVTQGDM	SAADTFLSDL	PRDDIYVSDV	EDDGDDTSLD	SDLDPEELAG
490	500	510	520	530	540
VRGHQGLRDQ	KRMRLTEVQD	DKEEEEEENP	LLVPLEEKAV	LQEEQANLWF	SKGSFAGIED
550	560	570	580	590	600
DADEALEISQ	AQLLFENRRK	GRQQQQKQQL	PQTPPSCLKT	EIMSPLYQDE	APKGTEASSG
610	620	630	640	650	660
TEAATGLEGE	EKDGISDSDS	STSSEEEESW	EPLRGKKRSR	GPKSDDDGFE	IVPIEDPAKH
670	680	690	700	710	720
RILDPEGLAL	GAVIASSKKA	KRDLIDNSFN	RYTFNEDEGE	LPEWFVQEEK	QHRIRQLPVG
730	740	750	760	770	780
KKEVEHYRKR	WREINARPIK	KVAEAKARKK	RRMLKRLEQT	RKKAEAVVNT	VDISEREKVA
790	800	810	820	830	840
QLRSLYKKAG	LGKEKRHVTY	VVAKKGVGRK	VRRPAGVRGH	FKVVDSRMKK	DQRAQQRKEQ

KKKHKRK