AiPD: Autoinhibited Protein Database

Q9NRR4

Gene name	DROSHA (RN3, RNASE3L, RNASEN)
Protein name	Ribonuclease 3
Names	Protein Drosha, Ribonuclease III, RNase III, p241
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29102
EC number	3.1.26.3: Endoribonucleases producing 5'-phosphomonoesters
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

185-339 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

185-339 (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

8 structures for Q9NRR4

Entry ID	Method	Resolution	Chain	Position	Source
2KHX	NMR	-	A	1259-1337	PDB
2NA2	NMR	-	A	1259-1337	PDB
5B16	X-ray	320 A			PDB
6LXD	EM	390 A	A	391-1374	PDB
6LXE	EM	420 A	A	391-1374	PDB
6V5B	EM	370 A	A	353-1365	PDB
6V5C	EM	440 A	A	353-1365	PDB
AF-Q9NRR4-F1	Predicted				AlphaFoldDB

798 variants for Q9NRR4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA359329887 rs1580396270 RCV000984736	108	R>K	Esophageal atresia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3218069 rs780835676	2	M>T		No	ClinGen ExAC gnomAD
rs1169598535 CA359331049	3	Q>E		No	ClinGen gnomAD
rs576224164 CA3218068	3	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs576224164 CA359331047	3	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3218067 rs753200638	5	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1175601189 CA359331034	5	N>S		No	ClinGen gnomAD
CA3218065 rs757939979	7	C>R		No	ClinGen ExAC gnomAD
CA3218039 rs767584928	8	H>R		No	ClinGen ExAC gnomAD
rs752503034 CA3218040	8	H>Y		No	ClinGen ExAC gnomAD
rs759489249 CA3218038	10	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3218037 rs774425927	11	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3218035 rs561496126	13	H>Y		No	ClinGen ExAC gnomAD
CA3218034 rs200373457	14	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200373457 CA115814289	14	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1196872143 CA359330838	15	G>R		No	ClinGen TOPMed
rs373494822 CA3218031	16	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3218030 rs769152940	16	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3218028 rs780530025	19	P>H		No	ClinGen ExAC TOPMed gnomAD
CA359330811 rs780530025	19	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1206389569 CA359330808	20	R>Q		No	ClinGen gnomAD
rs1485879154 CA359330798	22	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359330799 rs1485879154	22	R>G		No	ClinGen TOPMed gnomAD
rs1331222636 CA359330797	22	R>Q		No	ClinGen TOPMed
rs748803612 CA3218026	23	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1208698992 CA359330769	27	A>T		No	ClinGen gnomAD
rs1561302087 CA359330763	28	R>G		No	ClinGen Ensembl
CA115814268 rs375227605	30	S>L		No	ClinGen ESP TOPMed gnomAD
CA3218024 rs202053700	32	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3218025 rs202053700	32	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs752554295 CA3218023	33	S>F		No	ClinGen ExAC TOPMed gnomAD
CA359330731 rs752554295	33	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM449526 CA3218021 rs569160930	37	Q>P	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA359330701 rs1208324697	38	N>D		No	ClinGen TOPMed
rs1384020854 CA359330686	40	R>T		No	ClinGen gnomAD
CA359330668 rs1580397687	43	H>P		No	ClinGen Ensembl
CA3218019 rs766308154	43	H>Q		No	ClinGen ExAC gnomAD
CA3218018 rs762973173	44	P>S		No	ClinGen ExAC gnomAD
CA359330651 rs1457168199	46	Q>K		No	ClinGen gnomAD
rs1561301851 CA359330639	47	P>L		No	ClinGen Ensembl
rs866614026 CA115814252	47	P>T		No	ClinGen Ensembl
rs866573300 CA115814247	48	P>L		No	ClinGen Ensembl
CA3218014 rs762025768	49	V>M		No	ClinGen ExAC gnomAD
rs1005888630 CA115814243	52	Q>P		No	ClinGen gnomAD
rs1186109639 CA359330574	53	Y>C		No	ClinGen gnomAD
rs776826312 CA3218013	53	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA359330558 rs1580397426	54	E>D		No	ClinGen Ensembl
CA3218012 RCV000969885 rs201445638	56	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3218010 rs776021397	57	S>C		No	ClinGen ExAC TOPMed gnomAD
CA359330522 rs1356034716	58	A>T		No	ClinGen gnomAD
CA3218009 rs772594418	59	P>S		No	ClinGen ExAC gnomAD
CA115814228 rs902111218	61	T>I		No	ClinGen Ensembl
rs1580397312 CA359330495	61	T>P		No	ClinGen Ensembl
rs748771830 CA3218008	62	T>A		No	ClinGen ExAC gnomAD
CA3218007 rs777282094	63	F>L		No	ClinGen ExAC TOPMed gnomAD
COSM3827930 rs35342496 CA3218006	67	P>S	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs35342496 VAR_051866 CA3218005 RCV000966940	67	P>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001280763 rs1740629052	68	A>D		No	ClinVar dbSNP
CA3218003 rs780968053	69	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3218002 rs754860152	69	P>L		No	ClinGen ExAC gnomAD
rs780968053 CA359330414	69	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM3947426 rs751358812 CA3218001	70	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779874924 CA3218000	72	L>V		No	ClinGen ExAC gnomAD
rs758427485 CA115814208	73	P>R		No	ClinGen Ensembl
CA3217999 rs758294734	74	P>S		No	ClinGen ExAC gnomAD
CA115814201 rs762001670 COSM185379	75	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs546365755 CA359330323	75	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs546365755 CA115814198 COSM1067243	75	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA3217998 rs750471433	77	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3217997 rs765422251	78	F>I		No	ClinGen ExAC TOPMed gnomAD
CA359330268 rs1296696378	79	V>A		No	ClinGen TOPMed
rs1265775275 CA359330261	80	P>S		No	ClinGen gnomAD
rs754110575 CA3217995	82	P>S		No	ClinGen ExAC TOPMed gnomAD
CA359330235 rs754110575	82	P>T		No	ClinGen ExAC TOPMed gnomAD
CA359330224 rs1274114593	83	P>A		No	ClinGen TOPMed gnomAD
RCV000974384 rs149389256 CA3217992	83	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149389256 CA3217993	83	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3217994 rs149389256	83	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275479127 CA359330200	85	M>L		No	ClinGen gnomAD
rs1232506846 CA359330171	86	P>L		No	ClinGen gnomAD
rs530480889 CA3217990	87	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs774717863 CA3217988	88	S>A		No	ClinGen ExAC gnomAD
CA3217986 rs200906186	89	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3217987 rs200906186	89	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3217983 rs746810149	92	P>L		No	ClinGen ExAC gnomAD
CA359330076 rs1478024603	94	P>S		No	ClinGen gnomAD
rs541915232 CA3217979	95	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541915232 CA359330060	95	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541915232 CA3217980	95	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758120846 CA3217981	95	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1413580256 CA359330029	97	P>L		No	ClinGen TOPMed
CA3217977 rs199846087	100	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767992870 CA3217973	101	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753008648 CA3217974	101	P>S		No	ClinGen ExAC gnomAD
CA3217972 rs759796209	104	N>D		No	ClinGen ExAC gnomAD
rs774960659 CA3217971	104	N>T		No	ClinGen ExAC gnomAD
CA359329936 rs1276120280	105	H>N		No	ClinGen gnomAD
rs766953102 CA3217970	105	H>Q		No	ClinGen ExAC gnomAD
CA359329872 rs1580396223	109	H>P		No	ClinGen Ensembl
CA359329874 rs1286197274	109	H>Y		No	ClinGen gnomAD
CA359329840 rs1233411267	111	F>L		No	ClinGen TOPMed gnomAD
rs776219709 CA3217968	113	V>L		No	ClinGen ExAC gnomAD
CA115814124 rs989590447	115	P>S		No	ClinGen TOPMed
CA359329812 rs1332932638	116	C>Y		No	ClinGen TOPMed gnomAD
CA3217966 rs774989618	120	M>L		No	ClinGen ExAC TOPMed gnomAD
rs774989618 CA3217965	120	M>V		No	ClinGen ExAC TOPMed gnomAD
rs999494986 CA115814112	122	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	123	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs540826739 CA3217964	124	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1201986317 CA359329743	125	P>S		No	ClinGen TOPMed
rs1411750304 CA359329689	129	N>K		No	ClinGen TOPMed gnomAD
rs878897760 CA115814107	129	N>T		No	ClinGen Ensembl
rs917857113 CA359329672	131	P>Q		No	ClinGen TOPMed gnomAD
CA115814101 rs917857113	131	P>R		No	ClinGen TOPMed gnomAD
CA3217961 rs757140691	132	V>L		No	ClinGen ExAC gnomAD
rs1186949948 CA359329659	133	P>T		No	ClinGen TOPMed gnomAD
rs1160380873 CA359329646	134	G>E		No	ClinGen TOPMed
CA359329650 rs1472638449	134	G>R		No	ClinGen TOPMed
CA115814097 rs990663334	135	A>V		No	ClinGen gnomAD
TCGA novel	136	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269978298 CA359329624	137	P>S		No	ClinGen gnomAD
CA359329581 rs1377593142	140	G>V		No	ClinGen TOPMed
rs1209326010 CA359329555	142	F>L		No	ClinGen gnomAD
rs1328368362 CA359329524	145	M>L		No	ClinGen gnomAD
CA115814094 rs906526500	146	M>L		No	ClinGen TOPMed
rs1464818570 CA359329492	147	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749384962 CA3217960	148	P>L		No	ClinGen ExAC TOPMed gnomAD
CA359329475 rs1266083918	148	P>S		No	ClinGen gnomAD
rs1580395717 CA359329457	150	S>P		No	ClinGen Ensembl
CA359329448 rs777764329	151	M>L		No	ClinGen ExAC gnomAD
CA3217959 COSM738151 rs777764329	151	M>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3217957 rs753023337	153	H>Q		No	ClinGen ExAC gnomAD
rs1414128155 CA359329397	154	P>R		No	ClinGen TOPMed gnomAD
COSM368892 rs558382994 CA115814082	154	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
rs558382994 CA359329404	154	P>T		No	ClinGen 1000Genomes gnomAD
CA3217956 rs767602272	155	P>L		No	ClinGen ExAC TOPMed gnomAD
CA359329373 rs1157408195	156	P>L		No	ClinGen gnomAD
CA359329377 rs1157408195	156	P>R		No	ClinGen gnomAD
rs751822360 CA3217954	156	P>S		No	ClinGen ExAC gnomAD
CA3217953 rs538177208	158	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370727446 CA3217951 CA359329334	160	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250037605 CA359329329	160	M>T		No	ClinGen gnomAD
rs370727446 CA3217950	160	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217949 rs760078843	161	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760078843 CA3217948	161	P>R		No	ClinGen ExAC TOPMed gnomAD
rs745702685 CA3217945	162	Q>H		No	ClinGen ExAC gnomAD
rs752155947 CA115814060	163	Q>E		No	ClinGen TOPMed gnomAD
rs752155947 CA359329295	163	Q>K		No	ClinGen TOPMed gnomAD
CA3217944 rs774077875	163	Q>P		No	ClinGen ExAC gnomAD
rs770860452 CA3217943	164	V>I		No	ClinGen ExAC TOPMed gnomAD
rs77034974 CA3217941	170	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	170	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781498149 CA3217938	171	G>R		No	ClinGen ExAC gnomAD
rs781498149 CA3217939	171	G>S		No	ClinGen ExAC gnomAD
CA359329152 rs1287582647	174	H>L		No	ClinGen TOPMed gnomAD
CA115814044 rs886155627	174	H>Y		No	ClinGen TOPMed
rs1350877796 CA359329104	176	N>H		No	ClinGen gnomAD
CA3217936 rs138754603	176	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758820590 CA359329087	177	F>L		No	ClinGen ExAC gnomAD
CA3217933 rs566621174	179	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA115814030 rs1007677816	181	S>G		No	ClinGen gnomAD
rs752103305 CA3217930	182	F>L		No	ClinGen ExAC gnomAD
rs767215647 CA3217929	183	N>D		No	ClinGen ExAC gnomAD
TCGA novel	183	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773990094 CA3217927	184	S>N		No	ClinGen ExAC TOPMed gnomAD
rs773990094 CA3217928	184	S>T		No	ClinGen ExAC TOPMed gnomAD
CA359329030 rs1292981693	186	Q>R		No	ClinGen TOPMed
rs762715791 CA3217926	187	N>K		No	ClinGen ExAC TOPMed gnomAD
CA359328971 rs1340899177	195	S>G		No	ClinGen gnomAD
rs1054557587 CA115814010	196	A>T		No	ClinGen gnomAD
rs1304082332 CA359328952	197	N>K		No	ClinGen TOPMed
CA3217923 rs769567702	198	N>K		No	ClinGen ExAC gnomAD
CA115814005 rs974715206	199	S>N		No	ClinGen TOPMed gnomAD
CA359328916 rs1368902815	202	P>L		No	ClinGen gnomAD
CA359328917 rs1368902815	202	P>R		No	ClinGen gnomAD
rs371122199 CA3217921	203	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA115813990 rs781066515 COSM4141770	204	F>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3217918 rs747288637	206	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs199612013 CA3217919	206	H>R		No	ClinGen 1000Genomes ExAC
rs1271794085 CA359328363	207	L>F		No	ClinGen gnomAD
rs780397814 CA3217917	208	P>L		No	ClinGen ExAC gnomAD
TCGA novel	209	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202227062 CA359328316	211	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217915 rs202227062	211	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217914 rs779587523	213	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779587523 CA359328303	213	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA359328302 rs779587523	213	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1263164551 CA359328304	213	P>S		No	ClinGen TOPMed
rs752260854 CA3217912	215	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3217913 rs752260854	215	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM3719734 CA115813965 rs958159275	216	P>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA359328270 rs767003253	218	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1283399386 CA359328263	219	R>S		No	ClinGen gnomAD
rs373280782 CA3217910	222	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA115813953 rs765986893	224	R>S		No	ClinGen ExAC gnomAD
rs762758438 CA3217906	226	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3217905 rs772933006	226	K>N		No	ClinGen ExAC TOPMed gnomAD
rs550825992 CA3217904	227	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1222095393 CA359328207	228	Y>C		No	ClinGen TOPMed gnomAD
CA359328211 rs1301126250	228	Y>N		No	ClinGen gnomAD
CA359328188 rs1561299476	230	D>E		No	ClinGen Ensembl
CA359328194 rs1362483875	230	D>H		No	ClinGen TOPMed
rs761719591 CA3217903	231	H>R		No	ClinGen ExAC gnomAD
CA3217902 rs181678202	232	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs747051575 CA3217900	234	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA359328158 rs1370055307	235	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	235	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775888276 CA3217899	237	S>N		No	ClinGen ExAC TOPMed
rs1358530359 CA359328135	238	H>R		No	ClinGen gnomAD
rs970742651 CA115813925	240	R>*		No	ClinGen TOPMed
rs1458721925 CA359328120	241	G>R		No	ClinGen gnomAD
rs1412507378 CA359328102	243	R>S		No	ClinGen gnomAD
rs200947287 CA3217898	244	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1166754442 CA359328097	244	H>R		No	ClinGen gnomAD
rs746252202 CA359328093	245	R>G		No	ClinGen ExAC TOPMed gnomAD
rs376389062 CA3217896	245	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217895 rs376389062	245	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs746252202 CA3217897	245	R>W		No	ClinGen ExAC TOPMed gnomAD
CA359328081 rs1482620528	247	L>P		No	ClinGen gnomAD
rs749820255 CA3217894	248	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3217892 rs373409442	249	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217893 rs778322623	249	R>W		No	ClinGen ExAC TOPMed gnomAD
CA359328070 rs751019044	250	R>G		No	ClinGen ExAC TOPMed gnomAD
CA359328068 rs750540831	250	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3217890 rs750540831	250	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3217891 rs751019044	250	R>W		No	ClinGen ExAC TOPMed gnomAD
rs750071831 CA3217888	251	E>D		No	ClinGen ExAC TOPMed gnomAD
rs757978507 CA3217889	251	E>G		No	ClinGen ExAC gnomAD
CA359328067 rs1334214909	251	E>K		No	ClinGen gnomAD
TCGA novel	252	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201151813 RCV000201337 CA210135	252	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs761643386 CA3217887	254	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3217886 rs776469778	254	R>H		No	ClinGen ExAC TOPMed gnomAD
CA115813886 rs997207151	256	P>H		No	ClinGen TOPMed
rs764049500 CA3217885	256	P>S		No	ClinGen ExAC gnomAD
rs545917535 CA359328035	257	D>H		No	ClinGen 1000Genomes TOPMed
rs545917535 CA115813880	257	D>N		No	ClinGen 1000Genomes TOPMed
rs1369866527 CA359328027	258	R>G		No	ClinGen TOPMed gnomAD
CA115813876 rs1039084165	258	R>K		No	ClinGen TOPMed gnomAD
CA359328006 rs1561298963	261	Q>*		No	ClinGen Ensembl
CA359328007 rs1561298963	261	Q>E		No	ClinGen Ensembl
CA359328005 rs544823531	261	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3217880 rs544823531	261	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs555684936 CA3217878	262	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359327997 rs1286958159	262	D>E		No	ClinGen TOPMed
CA3217879 rs555684936	262	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3217877 rs778176813	263	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3217876 rs756554242	263	S>N		No	ClinGen ExAC gnomAD
rs541810066 CA115813852	264	R>Q		No	ClinGen 1000Genomes
rs201911246 CA3217875	264	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217874 rs61762999	265	Y>C		No	ClinGen ExAC gnomAD
rs61762999 CA359327982	265	Y>F		No	ClinGen ExAC gnomAD
rs757886642 CA3217873	267	S>T		No	ClinGen ExAC TOPMed gnomAD
rs764909278 CA3217871	269	Y>N		No	ClinGen ExAC gnomAD
rs757031683 CA3217870	270	D>V		No	ClinGen ExAC gnomAD
CA3217869 rs753623166 COSM1223870	271	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs372705339 CA3217868	271	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA359327939 rs1561298690	272	G>E		No	ClinGen Ensembl
TCGA novel	273	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359327928 rs1561298650	274	T>A		No	ClinGen Ensembl
rs760626190 CA3217867	274	T>I		No	ClinGen ExAC gnomAD
CA3217866 rs553006501	277	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756928342 CA3217864	277	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3217865 rs756928342	277	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM1067241 rs201276010 CA3217862	279	R>C	endometrium prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201276010 CA3217863	279	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs377246504 CA3217861	279	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs748712078 CA3217858	282	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA359327875 rs970773905	283	R>G		No	ClinGen TOPMed gnomAD
CA359327874 rs1434934578	283	R>Q		No	ClinGen TOPMed
CA115813811 rs970773905	283	R>W		No	ClinGen TOPMed gnomAD
rs781645230 CA3217857	284	S>R		No	ClinGen ExAC gnomAD
rs1490250338 CA359327860	285	R>K		No	ClinGen gnomAD
TCGA novel	286	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217835 rs770345967	286	E>Q		No	ClinGen ExAC gnomAD
CA3217834 rs749032311 COSM1067239	287	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777549538 CA3217833	287	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA359327568 rs1410117035	289	R>Q		No	ClinGen gnomAD
CA115812391 rs746400926	289	R>W	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3217832 rs756016580	291	R>K		No	ClinGen ExAC gnomAD
rs752503363 CA3217831	291	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3217829 COSM1067237 rs751444046	295	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751444046 CA3217828	295	R>G		No	ClinGen ExAC gnomAD
CA3217827 rs766534905	295	R>Q		No	ClinGen ExAC gnomAD
rs762915396 CA3217826	296	D>G		No	ClinGen ExAC gnomAD
CA115812366 rs371022450	298	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs1184774985 CA359327467 COSM3776621	305	R>T	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1232457396 CA359327459	306	S>C		No	ClinGen TOPMed gnomAD
rs1232457396 CA359327460	306	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750683980 CA3217825	307	Y>F		No	ClinGen ExAC
CA3217823 rs762186997	310	E>D		No	ClinGen ExAC TOPMed gnomAD
CA115812361 rs975072926	311	Y>C		No	ClinGen TOPMed
CA3217822 rs574385750	313	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs756137496 CA115812356	315	G>E		No	ClinGen Ensembl
CA359327400 rs1195470543	315	G>R		No	ClinGen TOPMed
CA115810181 rs530195732	318	Y>D		No	ClinGen 1000Genomes
CA359327363 rs530195732	318	Y>H		No	ClinGen 1000Genomes
CA3217808 rs560794749	319	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359327343 rs1249752148	321	S>A		No	ClinGen gnomAD
CA3217807 rs55656741 VAR_061778	321	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1281851758 CA359327340	322	V>I		No	ClinGen gnomAD
CA359327330 rs1229728511	323	V>A		No	ClinGen gnomAD
rs1361683067 CA359327332	323	V>F		No	ClinGen TOPMed
CA359327326 rs1356604664	324	P>S		No	ClinGen gnomAD
CA359327308 rs1173905095	326	P>L		No	ClinGen Ensembl
rs891237855 CA115810165	327	A>S		No	ClinGen Ensembl
rs1313737794 CA359327296	329	C>S		No	ClinGen gnomAD
CA359327281 rs1323090785	331	P>A		No	ClinGen TOPMed gnomAD
rs1001212836 CA115810162	331	P>L		No	ClinGen TOPMed
CA359327280 rs1323090785	331	P>S		No	ClinGen TOPMed gnomAD
rs750452216 CA3217805	335	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1561283913 CA359327248	336	E>*		No	ClinGen Ensembl
CA359327231 rs1484730115	338	I>T		No	ClinGen TOPMed
rs1407360896 CA359327227	339	K>E		No	ClinGen TOPMed gnomAD
rs538664122 CA3217804	343	S>T		No	ClinGen ExAC gnomAD
rs1189192557 CA359327186	344	W>C		No	ClinGen gnomAD
rs1026615218 CA115810145	344	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359327182 rs1485493001	345	A>D		No	ClinGen TOPMed gnomAD
CA3217801 rs183833318	346	P>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	347	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405504265 CA359327170	347	P>L		No	ClinGen TOPMed
rs760926045 CA3217800	347	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs995839539 CA115810140	351	V>M		No	ClinGen TOPMed
rs1345125647 CA359327136	353	H>Y		No	ClinGen TOPMed
CA3217788 rs369352228	354	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3217787 rs187981384	354	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs754108529 CA3217784	356	P>A		No	ClinGen ExAC gnomAD
CA359327052 rs1346587320	363	A>D		No	ClinGen gnomAD
rs536682487 CA3217783	363	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs756537138 CA3217782 COSM1067233	364	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3217781 rs752959469	364	R>H		No	ClinGen ExAC gnomAD
rs1352483658 CA359327039	365	W>C		No	ClinGen gnomAD
CA359327032 rs1298829217	366	E>V		No	ClinGen gnomAD
rs1415224797 CA359327022	367	E>D		No	ClinGen TOPMed
rs1461500398 CA359327015	368	E>D		No	ClinGen gnomAD
CA3217780 rs201711846	371	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA359326996 rs201711846	371	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217779 rs372990492	371	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1449178987 CA359326966	375	N>D		No	ClinGen TOPMed
CA3217778 rs752096579	375	N>S		No	ClinGen ExAC TOPMed gnomAD
CA115809995 rs868596554	376	Q>*		No	ClinGen gnomAD
rs1580359629 CA359326944	378	S>P		No	ClinGen Ensembl
CA3217776 rs200485820	379	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA359326928 rs202183936	380	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768144343 CA3217774	382	K>E		No	ClinGen ExAC gnomAD
CA359326912 rs1478716580 COSM1223868	382	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA359326911 rs1238673093	383	N>D		No	ClinGen gnomAD
rs1212923687 CA359326898	384	Y>F		No	ClinGen gnomAD
CA359326892 rs1561282911	385	T>N		No	ClinGen Ensembl
TCGA novel	385	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577582015 CA3217773	387	I>V		No	ClinGen ExAC TOPMed gnomAD
rs997346858 CA115809969	389	E>G		No	ClinGen Ensembl
CA115809965 rs866775896	392	P>S		No	ClinGen Ensembl
CA3217769 rs151137891 COSM738156	393	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs199515305 CA115809951	394	E>K		No	ClinGen TOPMed
CA359326823 rs1371339734	395	T>I		No	ClinGen gnomAD
CA3217768 rs771040076	395	T>P		No	ClinGen ExAC gnomAD
rs753113176 CA3217764	396	M>I		No	ClinGen ExAC gnomAD
CA3217766 rs756235239	396	M>R		No	ClinGen ExAC TOPMed gnomAD
rs756235239 CA3217765	396	M>T		No	ClinGen ExAC TOPMed gnomAD
rs947440353 CA115809926	398	D>E		No	ClinGen TOPMed
CA115809930 rs372868222	398	D>N		No	ClinGen ESP TOPMed gnomAD
CA359326806 rs1458575389	398	D>V		No	ClinGen gnomAD
rs913196681 CA115809923	402	E>K		No	ClinGen TOPMed
rs1416920568 CA359326698	405	E>A		No	ClinGen TOPMed gnomAD
CA359326697 rs1416920568	405	E>G		No	ClinGen TOPMed gnomAD
rs1415409157 CA359326687	406	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359326667 rs1467198241	408	L>F		No	ClinGen TOPMed
rs781464402 CA3217762	408	L>H		No	ClinGen ExAC gnomAD
CA3217761 rs755369741	409	K>E		No	ClinGen ExAC gnomAD
CA359326660 rs1332153612	409	K>T		No	ClinGen TOPMed
TCGA novel	410	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879773567 CA115809908	411	V>M		No	ClinGen TOPMed
CA359326599 rs1202201920	414	R>*		No	ClinGen gnomAD
COSM260584 CA3217760 rs752147785	414	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	419	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	420	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217759 rs766949030	425	D>N		No	ClinGen ExAC gnomAD
TCGA novel	425	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	436	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767118229 CA3217734	442	R>C		No	ClinGen ExAC gnomAD
rs1365662368 CA359325730	443	D>G		No	ClinGen TOPMed
CA359325718 rs1173512343	445	Y>H		No	ClinGen gnomAD
CA359325697 rs1363185295	447	K>N		No	ClinGen TOPMed gnomAD
CA115807996 rs868849269	448	F>C		No	ClinGen Ensembl
CA359325687 rs774079547	449	E>*		No	ClinGen ExAC TOPMed gnomAD
rs774079547 CA3217732	449	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774079547 CA359325688	449	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs762868488 CA3217730	451	E>D		No	ClinGen ExAC gnomAD
rs769802952 CA3217728	454	S>G		No	ClinGen ExAC gnomAD
rs748214927 CA3217727	454	S>T		No	ClinGen ExAC TOPMed gnomAD
rs777011909 CA3217726	456	Q>H		No	ClinGen ExAC gnomAD
rs1203903568 CA359325621	458	K>R		No	ClinGen TOPMed
rs768940298 CA3217725	460	K>E		No	ClinGen ExAC gnomAD
TCGA novel	461	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217724 rs747382480	461	A>V		No	ClinGen ExAC gnomAD
rs746412985 CA3217721	463	R>Q		No	ClinGen ExAC gnomAD
COSM3393525 rs758774465 CA3217722	463	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779446613 CA3217720	465	P>A		No	ClinGen ExAC gnomAD
rs755611158 CA3217719	465	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1395137814 CA359325571	467	E>K		No	ClinGen gnomAD
rs1309380166 CA359325558	468	P>L		No	ClinGen gnomAD
CA3217716 rs767173654	470	K>E		No	ClinGen ExAC gnomAD
rs754562615 CA3217715 COSM280612	471	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3217713 rs367768426	474	D>N		No	ClinGen ESP ExAC gnomAD
CA115806692 rs866846765	480	S>F		No	ClinGen Ensembl
rs377493838 CA3217682	481	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA359325452 rs1452489319	482	E>G		No	ClinGen TOPMed gnomAD
CA115806656 COSM3410231 rs928405820	484	E>K	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA359325441 rs928405820	484	E>Q		No	ClinGen TOPMed
rs1011317643 CA115806653	486	E>V		No	ClinGen Ensembl
CA3217678 rs774715215	488	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1408696178 CA359325401	489	E>V		No	ClinGen TOPMed
rs1385897566 CA359325392	490	D>E		No	ClinGen gnomAD
rs1173219077 CA359325395	490	D>G		No	ClinGen TOPMed
CA359325380 rs1182934007	492	T>S		No	ClinGen TOPMed gnomAD
CA359325371 rs1442636699	493	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA359325375 rs1436162555	493	C>R		No	ClinGen TOPMed
CA115806636 rs891578912	495	S>G		No	ClinGen TOPMed gnomAD
CA359325337 rs1373401772	498	D>G		No	ClinGen TOPMed
rs1281665515 CA359325324	500	E>A		No	ClinGen TOPMed gnomAD
TCGA novel	501	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359325297 rs1337600691	504	V>I		No	ClinGen TOPMed
rs778233733 CA3217675	506	A>E		No	ClinGen ExAC gnomAD
CA115806618 rs773602706	508	I>V		No	ClinGen Ensembl
rs768183605 CA3217674	509	K>R		No	ClinGen ExAC gnomAD
rs370207689 CA3217671	510	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA359325258 rs370207689	510	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217672 rs370207689	510	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1272347075 CA359325253	511	K>E		No	ClinGen gnomAD
rs1052876966 CA115806607	513	A>T		No	ClinGen Ensembl
CA359325218 rs1296617291	516	D>H		No	ClinGen TOPMed gnomAD
rs1162933367 CA359325177	521	E>D		No	ClinGen gnomAD
rs1421550137 CA359325139	525	N>S		No	ClinGen gnomAD
TCGA novel	526	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA115806589 rs1044116753	527	P>L		No	ClinGen TOPMed
CA115806590 rs866310693	527	P>S		No	ClinGen Ensembl
CA359336165 rs1481346076	530	M>I		No	ClinGen gnomAD
CA3217648 rs756049295	536	C>S		No	ClinGen ExAC gnomAD
CA359336039 rs1225717985	539	S>N		No	ClinGen gnomAD
CA3217645 rs369576938	540	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA359335992 rs1441475056	543	R>G		No	ClinGen gnomAD
rs763318231 CA3217642	544	R>C		No	ClinGen ExAC gnomAD
rs1032572786 COSM1328847 CA115811493	544	R>H	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1032572786 CA359335973	544	R>L		No	ClinGen TOPMed gnomAD
rs1032572786 CA359335974	544	R>P		No	ClinGen TOPMed gnomAD
rs763318231 CA3217643	544	R>S		No	ClinGen ExAC gnomAD
CA359335926 rs1307009533	548	R>K		No	ClinGen gnomAD
TCGA novel	549	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470096557 CA359335899	550	S>G		No	ClinGen gnomAD
CA359335881 rs1315561758	551	I>F		No	ClinGen TOPMed
TCGA novel	553	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217641 rs773495518	554	G>R		No	ClinGen ExAC gnomAD
rs1173546422 CA359335815	556	E>Q		No	ClinGen gnomAD
CA3217616 rs61751194	557	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1386514718 CA359334899	557	A>V		No	ClinGen gnomAD
CA359334891 rs770561672	559	K>E		No	ClinGen ExAC gnomAD
rs762755765 CA359334885	559	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3217615 rs770561672	559	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	561	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359334860 rs1255983736	563	P>R		No	ClinGen gnomAD
CA3217613 rs375949381 COSM3393524	564	M>V	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA359334845 rs1487001201	565	T>I		No	ClinGen gnomAD
CA359334832 rs1261502014	567	N>S		No	ClinGen gnomAD
rs372281038 CA3217612	569	G>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	572	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561252258 CA359334779	575	R>Q		No	ClinGen Ensembl
CA3217611 rs777194754	575	R>W		No	ClinGen ExAC TOPMed gnomAD
rs368688639 CA3217609	576	I>L		No	ClinGen ESP ExAC gnomAD
CA115808389 rs868625207	580	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs780163067 CA3217606	582	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1387902367 CA359334340	586	T>A		No	ClinGen gnomAD
rs768481311 CA3217590	592	I>T		No	ClinGen ExAC gnomAD
CA359334265 rs1162402673	592	I>V		No	ClinGen TOPMed
CA359334159 rs1364018217	599	Y>C		No	ClinGen TOPMed
CA359334164 rs1451136278	599	Y>H		No	ClinGen gnomAD
CA359334124 rs1265294759	601	F>L		No	ClinGen gnomAD
rs1025855611 CA115807622 CA359334056	606	M>I		No	ClinGen gnomAD
rs745898205 CA3217586	606	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1257253691 CA359334050	607	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA359334038 rs1299199946	607	F>L		No	ClinGen TOPMed
CA359334000 rs1325297106	610	A>V		No	ClinGen gnomAD
rs1283563273 CA359333986	611	P>L		No	ClinGen gnomAD
rs1330233722	612	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	612	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397819978 CA359333942	614	N>K		No	ClinGen gnomAD
CA115805360 rs902058029	619	K>R		No	ClinGen TOPMed gnomAD
rs756470214 CA3217564	628	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1379719350 CA359332697	629	I>V		No	ClinGen gnomAD
rs1446302214 CA359332646	633	E>G		No	ClinGen gnomAD
CA359332649 rs1176716178	633	E>K		No	ClinGen gnomAD
rs748478188 CA3217563	634	E>D		No	ClinGen ExAC gnomAD
CA115805355 rs1008113408	637	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA359332137 rs1291264597	642	V>L		No	ClinGen gnomAD
CA3217551 rs767296065	644	G>W		No	ClinGen ExAC
rs1580258541 CA359332083	648	F>S		No	ClinGen Ensembl
CA3217550 rs759529516	649	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA359332060 rs1354702847	650	L>P		No	ClinGen gnomAD
rs943675843 CA115804982	655	D>G		No	ClinGen gnomAD
TCGA novel	655	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	659	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA115804981 rs369595504	660	Y>H		No	ClinGen ESP TOPMed gnomAD
rs1257442615 CA359331850	665	K>N		No	ClinGen TOPMed
CA359331856 rs1350501144	665	K>T		No	ClinGen gnomAD
rs773404948 CA3217522	666	G>D		No	ClinGen ExAC gnomAD
CA3217521 rs769977886	667	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762172048 CA115804585	668	L>F		No	ClinGen ExAC
rs1375577975 CA359331688	668	L>S		No	ClinGen TOPMed gnomAD
CA3217519 rs576947167	669	F>I		No	ClinGen ExAC gnomAD
CA115804580 rs576947167	669	F>L		No	ClinGen ExAC gnomAD
rs1003667335 CA115804578	669	F>L		No	ClinGen TOPMed gnomAD
CA359331674 rs1445887286	669	F>S		No	ClinGen TOPMed gnomAD
CA359331656 rs1193911588	670	E>D		No	ClinGen TOPMed
TCGA novel	671	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246856914 CA359331617	673	P>L		No	ClinGen TOPMed
rs747348733 CA3217517	673	P>T		No	ClinGen ExAC gnomAD
rs1426280391 CA359331606	674	P>L		No	ClinGen TOPMed
CA359331612 rs1561231356	674	P>S		No	ClinGen Ensembl
rs1191660879 CA359331562	677	P>L		No	ClinGen TOPMed
CA115804571 rs375263089	678	R>I		No	ClinGen ESP TOPMed
CA359331525 rs1358196692	681	F>C		No	ClinGen TOPMed gnomAD
rs1580251302 CA359331503	684	R>H		No	ClinGen Ensembl
CA3217504 rs750302253	692	G>E		No	ClinGen ExAC gnomAD
rs1419681286 CA359330504	699	M>L		No	ClinGen gnomAD
rs761941125 CA3217502	699	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1193615533 CA359330419	703	L>F		No	ClinGen TOPMed
rs1422048578 CA359330363	708	R>K		No	ClinGen TOPMed
rs759616408 CA115801877	711	K>N		No	ClinGen TOPMed gnomAD
rs1255842575 CA359330326	711	K>R		No	ClinGen gnomAD
rs768940137 CA3217500	715	P>S		No	ClinGen ExAC TOPMed gnomAD
CA359330223 rs1403861574	719	I>M		No	ClinGen TOPMed
CA359330215 rs1215959799	720	A>V		No	ClinGen gnomAD
CA3217498 rs775989425	721	N>S		No	ClinGen ExAC TOPMed gnomAD
CA359330131 rs1293897279 COSM1739152	727	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA359330062 rs1366306381	731	Q>H		No	ClinGen TOPMed
CA359329954 rs1390169495	739	G>V		No	ClinGen gnomAD
rs746436688 CA3217496	740	M>K		No	ClinGen ExAC gnomAD
CA3217497 rs772310351	740	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3217495 rs779362571	741	I>T		No	ClinGen ExAC TOPMed gnomAD
CA359329921 rs1297095352	742	V>L		No	ClinGen gnomAD
rs1397551991 CA359329897	743	T>I		No	ClinGen gnomAD
CA359329899 rs1397551991	743	T>S		No	ClinGen gnomAD
rs934462217 CA115801864	744	N>H		No	ClinGen TOPMed
rs747610669 CA3217493	746	G>E		No	ClinGen ExAC gnomAD
TCGA novel	747	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202101007 CA115801861	747	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217491 rs202101007 COSM185363	747	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA359328856 rs1226092566	753	R>H		No	ClinGen TOPMed
rs12517177 CA115801024	757	L>V		No	ClinGen Ensembl
COSM482706 CA359328815 rs1390623554	759	R>H	kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs536731391 CA115801022	763	N>K		No	ClinGen TOPMed gnomAD
rs188921591 CA3217481	764	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1580197566 CA359328771	765	D>E		No	ClinGen Ensembl
rs767966111 CA3217479	765	D>N		No	ClinGen ExAC TOPMed gnomAD
CA359328737 rs1476924065	770	P>L		No	ClinGen gnomAD
CA3217477 rs374017591	772	I>V		No	ClinGen ESP ExAC gnomAD
CA359328721 rs1265142476	773	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359328694 rs1200410533	777	I>V		No	ClinGen gnomAD
rs1458058411 COSM1223867 CA359328684	778	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs370301677 CA3217474	782	L>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217465 rs764283487	789	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	793	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217464 rs756116730	793	L>P		No	ClinGen ExAC gnomAD
TCGA novel	800	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376262500 CA3217461	801	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3217459 rs766729936	813	T>I		No	ClinGen ExAC gnomAD
CA359328427 rs1412090120	813	T>S		No	ClinGen gnomAD
rs767292159 CA115800626	819	A>V		No	ClinGen gnomAD
rs750947717 CA3217440	823	E>D		No	ClinGen ExAC gnomAD
rs1471632102	828	I>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA359327802 rs1193883612	829	R>L		No	ClinGen gnomAD
CA3217436 rs771607570	829	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	834	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	835	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	838	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774124987 CA359327726	840	V>A		No	ClinGen ExAC TOPMed gnomAD
rs774124987 CA3217434	840	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3217431 rs777769407	843	S>N		No	ClinGen ExAC gnomAD
CA3217430 rs769557468	848	W>R		No	ClinGen ExAC gnomAD
CA3217428 rs566677602	852	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs755033541 CA3217427	853	R>C		No	ClinGen ExAC TOPMed gnomAD
CA359327639 rs1339947335	853	R>H		No	ClinGen gnomAD
CA115800106 rs1559205	854	S>F		No	ClinGen Ensembl
rs1268485783 CA359327623	856	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	858	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438548290 CA359326773	860	A>E		No	ClinGen gnomAD
CA359326765 rs1378841392	861	M>V		No	ClinGen gnomAD
CA359326680 rs1464824369	867	T>I		No	ClinGen gnomAD
CA359326628 rs1352370629	870	I>V		No	ClinGen gnomAD
rs372313396 CA3217406	871	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA359326611 rs1466433904	871	R>H		No	ClinGen TOPMed
CA3217405 rs758679251	873	H>L		No	ClinGen ExAC gnomAD
rs746100767 CA3217404	873	H>Q		No	ClinGen ExAC gnomAD
CA3217402 rs368409491	878	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3217403 rs771020003	878	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA3217401 rs754323893	880	D>E		No	ClinGen ExAC gnomAD
rs1344446153 CA359326481	880	D>G		No	ClinGen TOPMed
rs754538975 CA359326443	883	I>L		No	ClinGen ExAC TOPMed gnomAD
CA3217399 rs754538975	883	I>V		No	ClinGen ExAC TOPMed gnomAD
CA115795868 rs1024646421	885	Y>F		No	ClinGen Ensembl
rs1277920308 CA359326393	886	T>S		No	ClinGen gnomAD
rs1397112478 CA359326374	888	Q>K		No	ClinGen gnomAD
CA3217398 COSM274877 rs267600599	890	R>C	Variant assessed as Somatic; 0.0 impact. NS large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3217397 rs765972099	890	R>H		No	ClinGen ExAC TOPMed gnomAD
rs267600599 CA359326347	890	R>S		No	ClinGen ExAC gnomAD
CA359326325 rs1445815042	893	L>F		No	ClinGen gnomAD
CA3217396 rs762575748	893	L>M		No	ClinGen ExAC gnomAD
CA359326292 rs1360547844	897	M>V		No	ClinGen gnomAD
CA115794649 rs886369396	905	N>S		No	ClinGen Ensembl
TCGA novel	912	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217379 rs766022493	923	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA359326081 rs1424657857	926	K>R		No	ClinGen gnomAD
CA359326041 rs1478853589	932	V>I		No	ClinGen gnomAD
CA359326031 rs1263918687	933	H>R		No	ClinGen gnomAD
rs1267043247 CA359326014	935	M>I		No	ClinGen gnomAD
CA3217377 rs764880804	935	M>L		No	ClinGen ExAC TOPMed gnomAD
rs761529733 CA3217375	935	M>T		No	ClinGen ExAC gnomAD
CA3217376 rs764880804	935	M>V		No	ClinGen ExAC TOPMed gnomAD
rs776471094 CA359325995	938	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	946	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757854835 CA3217359	947	N>T		No	ClinGen ExAC gnomAD
CA3217358 rs749893180	950	S>L		No	ClinGen ExAC gnomAD
CA359325890 rs1387790694	951	R>H		No	ClinGen gnomAD
TCGA novel	956	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757002340 CA3217356	960	S>*		No	ClinGen ExAC TOPMed gnomAD
CA359325829 rs757002340	960	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3217337 CA115795576 rs756702395	961	R>S		No	ClinGen ExAC gnomAD
rs1184670048 CA359340546	965	N>D		No	ClinGen TOPMed
CA359340544 rs1389821370	965	N>S		No	ClinGen gnomAD
rs1303485152 CA359340528	967	R>L		No	ClinGen TOPMed gnomAD
rs1303485152 CA359340527	967	R>Q		No	ClinGen TOPMed gnomAD
CA115795566 rs867272063	969	E>*		No	ClinGen Ensembl
rs1160335586 CA359340504	971	L>M		No	ClinGen gnomAD
rs866480882 CA115795550	974	A>D		No	ClinGen Ensembl
rs199607879 CA3217332	976	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1441725361 CA359339888	982	V>A		No	ClinGen TOPMed
CA3217314 rs777416100	982	V>I		No	ClinGen ExAC gnomAD
rs1352428379 CA359339827	987	L>S		No	ClinGen TOPMed
rs866243371 CA115794573	989	P>S		No	ClinGen Ensembl
CA359339783 rs1431457323	991	L>M		No	ClinGen gnomAD
CA3217312 rs747793683	997	A>E		No	ClinGen ExAC gnomAD
rs1325757069 CA359339714	997	A>T		No	ClinGen gnomAD
TCGA novel	999	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	999	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217311 rs781077537	1000	R>Q		No	ClinGen ExAC gnomAD
rs1580081724 CA359339659	1002	A>S		No	ClinGen Ensembl
CA3217309 rs754704305 COSM1186750	1003	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA115794544 rs754092299	1007	Q>H		No	ClinGen gnomAD
CA359339595 rs1459542941	1007	Q>L		No	ClinGen gnomAD
CA359339587 rs1193726633	1008	H>Y		No	ClinGen TOPMed gnomAD
CA3217307 rs766184093	1010	A>T		No	ClinGen ExAC
rs1191592907 CA359339550	1011	M>L		No	ClinGen gnomAD
CA115794503 rs1052373237	1011	M>R		No	ClinGen TOPMed
rs764156937 CA3217282	1016	L>F		No	ClinGen ExAC gnomAD
rs374967751 CA359339314	1018	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3217280 rs775775322	1020	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767861074 CA3217279	1020	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA115791670 rs748232220	1026	H>Y		No	ClinGen Ensembl
rs1003588847 CA115791661	1034	S>L		No	ClinGen TOPMed gnomAD
rs774814888 CA3217277	1039	A>G		No	ClinGen ExAC TOPMed gnomAD
CA359339166 rs1580067253	1040	M>T		No	ClinGen Ensembl
rs761184189 CA3217275	1040	M>V		No	ClinGen ExAC gnomAD
CA359339133 rs776346705	1044	F>L		No	ClinGen ExAC gnomAD
rs746673717 CA3217272	1048	I>T		No	ClinGen ExAC gnomAD
rs775235591 CA3217254	1051	V>A		No	ClinGen ExAC gnomAD
rs778714196 CA115789851	1058	E>V		No	ClinGen TOPMed
rs1489218491 CA359338849	1060	A>T		No	ClinGen gnomAD
CA3217251 rs370990538	1066	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214848609 CA359338773	1066	R>H		No	ClinGen gnomAD
rs757001618 CA3217250	1068	L>I		No	ClinGen ExAC TOPMed gnomAD
CA3217249 rs749243662	1070	N>D		No	ClinGen ExAC gnomAD
CA115789842 rs749243662	1070	N>H		No	ClinGen ExAC gnomAD
rs777752846 CA3217248	1070	N>K		No	ClinGen ExAC gnomAD
rs542828086 CA3217247	1072	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359338707 rs1354342796	1072	P>S		No	ClinGen gnomAD
rs1394064377 CA359338593	1073	D>A		No	ClinGen gnomAD
TCGA novel	1073	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217231 COSM274875 rs376727217	1075	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA359338564 rs1186040397	1075	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1422865070 CA359338546	1076	E>G		No	ClinGen TOPMed
rs773151368 CA3217229	1076	E>K		No	ClinGen ExAC gnomAD
CA359338551 rs773151368	1076	E>Q		No	ClinGen ExAC gnomAD
rs1169731112 CA359338534	1077	V>I		No	ClinGen TOPMed gnomAD
rs1169731112 CA359338531	1077	V>L		No	ClinGen TOPMed gnomAD
rs1426653546 CA359338511	1078	W>*		No	ClinGen gnomAD
rs988186391 CA115786100	1079	L>F		No	ClinGen TOPMed
rs769791099 CA3217228	1080	N>S		No	ClinGen ExAC gnomAD
rs1427406017 CA359338446	1082	P>S		No	ClinGen TOPMed
CA359338433 rs1330382398	1083	L>R		No	ClinGen TOPMed
rs1283102402 CA359337653	1088	L>Q		No	ClinGen gnomAD
CA359337645 rs1212138803	1089	Q>P		No	ClinGen gnomAD
rs1311212433 COSM3429371 CA359337568	1095	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1241512832 CA359337557	1096	Q>R		No	ClinGen gnomAD
CA115784851 rs748009983	1102	P>A		No	ClinGen gnomAD
CA3217212 rs762765224	1102	P>L		No	ClinGen ExAC TOPMed gnomAD
CA359337491 rs748009983	1102	P>S		No	ClinGen gnomAD
CA359337484 rs1313414655	1103	V>L		No	ClinGen gnomAD
rs1434023676 CA359337431	1107	L>V		No	ClinGen gnomAD
rs1373461212 CA359337422	1108	T>A		No	ClinGen gnomAD
CA359337405 rs1309686825	1109	E>A		No	ClinGen TOPMed
CA359337398 rs1346753359	1110	F>L		No	ClinGen TOPMed
CA3217210 rs769711908	1113	A>T		No	ClinGen ExAC gnomAD
rs776736153 CA3217208	1114	I>T		No	ClinGen ExAC TOPMed gnomAD
rs748062041 CA3217209	1114	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1115	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1117	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179152066 CA359337306	1117	I>T		No	ClinGen gnomAD
CA359337242 rs1257594254	1122	R>*		No	ClinGen gnomAD
rs1189337143 CA359337234	1123	L>I		No	ClinGen gnomAD
rs747258421 CA3217206	1126	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1194666955 CA359337191	1127	A>S		No	ClinGen TOPMed
CA359336790 rs1176489353	1153	I>V		No	ClinGen TOPMed
rs768758777 CA3217190	1164	I>N		No	ClinGen ExAC gnomAD
CA115783579 rs957421090	1167	P>S		No	ClinGen Ensembl
CA359333702 rs1295265844	1178	R>*		No	ClinGen gnomAD
CA359333700 rs1236254462	1178	R>Q		No	ClinGen gnomAD
rs962964269 CA115775822	1182	V>A		No	ClinGen Ensembl
TCGA novel	1186	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371391530 CA359333554	1188	A>G		No	ClinGen gnomAD
TCGA novel	1188	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3217176 rs758133428 COSM3941292	1191	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA359333429 rs1228134367	1196	M>V		No	ClinGen TOPMed
CA359333404 rs1289997268	1197	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA359333393 rs765041582	1197	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA359333397 rs1561116631	1197	Q>L		No	ClinGen Ensembl
rs1223477329 CA359333387	1198	E>K		No	ClinGen TOPMed
rs761559414 CA3217173	1198	E>V		No	ClinGen ExAC TOPMed gnomAD
CA359333348 rs1396439517	1200	A>T		No	ClinGen TOPMed gnomAD
CA3217171 rs763962864	1201	I>K		No	ClinGen ExAC
rs373505202 CA359333285	1203	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA359333265 rs1455857624	1205	K>Q		No	ClinGen gnomAD
rs1396063384 CA359333256	1206	T>A		No	ClinGen TOPMed gnomAD
rs1396063384 CA359333255	1206	T>S		No	ClinGen TOPMed gnomAD
rs772015765 CA3217168	1209	P>L		No	ClinGen ExAC gnomAD
CA3217166 rs774665139	1210	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771452865 CA3217165	1211	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs899896220 CA115775702	1213	R>H		No	ClinGen gnomAD
rs1318353668 CA359333107	1216	T>S		No	ClinGen TOPMed
RCV000991210 CA359333076 rs1579987863	1219	D>G		No	ClinGen ClinVar Ensembl dbSNP
CA359332660 rs1195955783	1227	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3217141 rs776966464	1228	L>V		No	ClinGen ExAC gnomAD
rs771619776 CA3217140	1230	I>V		No	ClinGen ExAC gnomAD
rs1486762375 CA359332591	1231	D>V		No	ClinGen gnomAD
CA3217139 rs745328317	1233	D>H		No	ClinGen ExAC gnomAD
CA359332566 rs745328317	1233	D>N		No	ClinGen ExAC gnomAD
CA359332546 rs1326601694	1235	E>D		No	ClinGen gnomAD
CA115774462 rs1047217743	1235	E>G		No	ClinGen Ensembl
CA359332545 rs1174904836	1236	Y>H		No	ClinGen TOPMed
rs1274614882 CA359332536	1237	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	1241	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359332496 rs1233387563	1242	N>S		No	ClinGen gnomAD
rs1297917885 CA359332477	1245	F>L		No	ClinGen TOPMed
CA3217138 rs778381047	1246	F>L		No	ClinGen ExAC gnomAD
CA359332454 rs1312646207	1248	R>Q		No	ClinGen gnomAD
CA359332389 rs2241337 CA359332388	1255	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1579982002 CA359332375	1257	D>G		No	ClinGen Ensembl
CA3217122 rs747510301	1259	N>Y		No	ClinGen ExAC gnomAD
CA3217120 rs770406706	1261	P>S		No	ClinGen ExAC gnomAD
CA359332272 rs1441899184	1271	T>K		No	ClinGen gnomAD
rs1002990980 CA115774348	1275	E>V		No	ClinGen TOPMed
CA115772563 rs762537475	1287	L>V		No	ClinGen ExAC gnomAD
TCGA novel	1295	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174002360 CA359331209	1296	R>*		No	ClinGen gnomAD
rs76212062 CA3217098	1302	V>G		No	ClinGen ExAC gnomAD
rs201161679 CA115772533	1303	Y>F		No	ClinGen Ensembl
rs147180304 CA359331118	1309	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359331104 rs780072424	1311	C>W		No	ClinGen ExAC TOPMed gnomAD
rs758568440 CA3217094	1313	K>R		No	ClinGen ExAC gnomAD
TCGA novel	1320	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761417383 CA3217066	1322	M>I		No	ClinGen ExAC
CA359330938 rs1195448237	1326	M>T		No	ClinGen Ensembl
rs898901219 CA115771429	1326	M>V		No	ClinGen gnomAD
CA115771405 rs867231759	1329	L>I		No	ClinGen Ensembl
rs768578400 CA3217064	1330	E>Q		No	ClinGen ExAC gnomAD
rs761344878 CA3217043	1337	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA115767570 rs1001404409	1338	A>T		No	ClinGen TOPMed
CA359329569 COSM280610 rs561462275	1342	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA359329529 rs1322275663	1345	E>K		No	ClinGen TOPMed gnomAD
rs771971658 CA3217038	1349	R>S		No	ClinGen ExAC gnomAD
TCGA novel	1350	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359329427 rs896515701	1351	E>D		No	ClinGen TOPMed gnomAD
rs774306960 CA3217036	1359	R>K		No	ClinGen ExAC gnomAD
rs1385429051 CA359329310	1360	E>Q		No	ClinGen TOPMed
rs1389940639 CA359329276	1362	Q>E		No	ClinGen gnomAD
rs533297896 CA115767512	1362	Q>P		No	ClinGen Ensembl
CA359329255 rs1156535127	1363	E>G		No	ClinGen TOPMed
rs61751196 CA115767510	1364	R>G		No	ClinGen Ensembl
rs1383982217 CA359329239	1364	R>S		No	ClinGen TOPMed
CA3217034 rs770922289	1365	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1380561359 CA359329213	1366	P>R		No	ClinGen TOPMed
CA359329217 rs1188571005	1366	P>S		No	ClinGen TOPMed gnomAD
rs1561100337	1366	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs376216811 CA3217033	1367	D>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	1368	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA115767455 rs1055527452	1369	T>P		No	ClinGen TOPMed
CA359329144 rs1198277870	1371	D>H		No	ClinGen gnomAD
CA359329133 rs1205776150	1372	I>N		No	ClinGen TOPMed gnomAD
CA359329135 rs1275027287	1372	I>V		No	ClinGen gnomAD

No associated diseases with Q9NRR4

4 regional properties for Q9NRR4

Type	Name	Position	InterPro Accession
domain	Ribonuclease III domain	876 - 1079	IPR000999-1
domain	Ribonuclease III domain	1107 - 1254	IPR000999-2
domain	Double-stranded RNA-binding domain	1260 - 1334	IPR014720
domain	RNase III, double-stranded RNA binding domain, animal	1259 - 1332	IPR044442

Functions

		Description
EC Number	3.1.26.3	Endoribonucleases producing 5'-phosphomonoesters
Subcellular Localization	Nucleus Nucleus, nucleolus	A fraction is translocated to the nucleolus during the S phase of the cell cycle Localized in GW bodies (GWBs), also known as P-bodies
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
microprocessor complex	A protein complex that binds to heme and to pri-miRNAs, and is required for the formation of a pre-microRNA (pre-miRNA), the initial step of microRNA (miRNA) biogenesis. The complex is composed of the double-stranded-RNA-specific RNase Drosha (also called RNASEN) and the RNA-binding protein DGCR8 (heme-free or heme-bound forms). Within the complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs RNASEN/Drosha to cleave the 3' and 5' strands of a stem-loop to release hairpin-shaped pre-miRNAs.
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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

10 GO annotations of molecular function

Name	Definition
DEAD/H-box RNA helicase binding	Binding to a DEAD/H-box RNA helicase.
double-stranded RNA binding	Binding to double-stranded RNA.
lipopolysaccharide binding	Binding to a lipopolysaccharide.
metal ion binding	Binding to a metal ion.
primary miRNA binding	Binding to a primary microRNA (pri-miRNA) transcript, an RNA molecule that is processed into a short hairpin-shaped structure called a pre-miRNA and finally into a functional miRNA. Both double-stranded and single-stranded regions of a pri-miRNA are required for binding.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
R-SMAD binding	Binding to a receptor-regulated SMAD signaling protein.
ribonuclease III activity	Catalysis of the endonucleolytic cleavage of RNA with 5'-phosphomonoesters and 3'-OH termini; makes two staggered cuts in both strands of dsRNA, leaving a 3' overhang of 2 nt.
RNA binding	Binding to an RNA molecule or a portion thereof.
SMAD binding	Binding to a SMAD signaling protein.

12 GO annotations of biological process

Name	Definition
defense response to Gram-negative bacterium	Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.
defense response to Gram-positive bacterium	Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism.
miRNA metabolic process	The chemical reactions and pathways involving miRNA, microRNA, a class of single-stranded RNA molecules of about 21-23 nucleotides in length, which regulates gene expression.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
pre-miRNA processing	A process involved in the conversion of a pre-microRNA transcript into a mature microRNA molecule.
primary miRNA processing	A process involved in the conversion of a primary microRNA transcript into a pre-microRNA molecule.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
regulation of miRNA metabolic process	Any process that modulates the frequency, rate or extent of miRNA metabolic process.
regulation of regulatory T cell differentiation	Any process that modulates the frequency, rate or extent of differentiation of regulatory T cells.
RNA processing	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5HZJ0	Drosha	Ribonuclease 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MMQGNTCHRM	SFHPGRGCPR	GRGGHGARPS	APSFRPQNLR	LLHPQQPPVQ	YQYEPPSAPS
70	80	90	100	110	120
TTFSNSPAPN	FLPPRPDFVP	FPPPMPPSAQ	GPLPPCPIRP	PFPNHQMRHP	FPVPPCFPPM
130	140	150	160	170	180
PPPMPCPNNP	PVPGAPPGQG	TFPFMMPPPS	MPHPPPPPVM	PQQVNYQYPP	GYSHHNFPPP
190	200	210	220	230	240
SFNSFQNNPS	SFLPSANNSS	SPHFRHLPPY	PLPKAPSERR	SPERLKHYDD	HRHRDHSHGR
250	260	270	280	290	300
GERHRSLDRR	ERGRSPDRRR	QDSRYRSDYD	RGRTPSRHRS	YERSRERERE	RHRHRDNRRS
310	320	330	340	350	360
PSLERSYKKE	YKRSGRSYGL	SVVPEPAGCT	PELPGEIIKN	TDSWAPPLEI	VNHRSPSREK
370	380	390	400	410	420
KRARWEEEKD	RWSDNQSSGK	DKNYTSIKEK	EPEETMPDKN	EEEEEELLKP	VWIRCTHSEN
430	440	450	460	470	480
YYSSDPMDQV	GDSTVVGTSR	LRDLYDKFEE	ELGSRQEKAK	AARPPWEPPK	TKLDEDLESS
490	500	510	520	530	540
SESECESDED	STCSSSSDSE	VFDVIAEIKR	KKAHPDRLHD	ELWYNDPGQM	NDGPLCKCSA
550	560	570	580	590	600
KARRTGIRHS	IYPGEEAIKP	CRPMTNNAGR	LFHYRITVSP	PTNFLTDRPT	VIEYDDHEYI
610	620	630	640	650	660
FEGFSMFAHA	PLTNIPLCKV	IRFNIDYTIH	FIEEMMPENF	CVKGLELFSL	FLFRDILELY
670	680	690	700	710	720
DWNLKGPLFE	DSPPCCPRFH	FMPRFVRFLP	DGGKEVLSMH	QILLYLLRCS	KALVPEEEIA
730	740	750	760	770	780
NMLQWEELEW	QKYAEECKGM	IVTNPGTKPS	SVRIDQLDRE	QFNPDVITFP	IIVHFGIRPA
790	800	810	820	830	840
QLSYAGDPQY	QKLWKSYVKL	RHLLANSPKV	KQTDKQKLAQ	REEALQKIRQ	KNTMRREVTV
850	860	870	880	890	900
ELSSQGFWKT	GIRSDVCQHA	MMLPVLTHHI	RYHQCLMHLD	KLIGYTFQDR	CLLQLAMTHP
910	920	930	940	950	960
SHHLNFGMNP	DHARNSLSNC	GIRQPKYGDR	KVHHMHMRKK	GINTLINIMS	RLGQDDPTPS
970	980	990	1000	1010	1020
RINHNERLEF	LGDAVVEFLT	SVHLYYLFPS	LEEGGLATYR	TAIVQNQHLA	MLAKKLELDR
1030	1040	1050	1060	1070	1080
FMLYAHGPDL	CRESDLRHAM	ANCFEALIGA	VYLEGSLEEA	KQLFGRLLFN	DPDLREVWLN
1090	1100	1110	1120	1130	1140
YPLHPLQLQE	PNTDRQLIET	SPVLQKLTEF	EEAIGVIFTH	VRLLARAFTL	RTVGFNHLTL
1150	1160	1170	1180	1190	1200
GHNQRMEFLG	DSIMQLVATE	YLFIHFPDHH	EGHLTLLRSS	LVNNRTQAKV	AEELGMQEYA
1210	1220	1230	1240	1250	1260
ITNDKTKRPV	ALRTKTLADL	LESFIAALYI	DKDLEYVHTF	MNVCFFPRLK	EFILNQDWND
1270	1280	1290	1300	1310	1320
PKSQLQQCCL	TLRTEGKEPD	IPLYKTLQTV	GPSHARTYTV	AVYFKGERIG	CGKGPSIQQA
1330	1340	1350	1360	1370
EMGAAMDALE	KYNFPQMAHQ	KRFIERKYRQ	ELKEMRWERE	HQEREPDETE	DIKK