AiPD: Autoinhibited Protein Database

O75339

Gene name	CILP (UNQ602/PRO1188)
Protein name	Cartilage intermediate layer protein 1
Names	CILP-1, Cartilage intermediate-layer protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8483
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1106-1178 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1106-1178 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for O75339

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75339-F1	Predicted				AlphaFoldDB

1092 variants for O75339

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2073711 CA118128 VAR_022770 RCV000006692	395	I>T	Lumbar disc disease, susceptibility to associated with susceptibility to lumbar disk disease in Japanese; increases binding and inhibition of TGFB1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7615265 rs141790957 RCV003178942 COSM3956843	900	R>W	lung Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1012372223 CA271515929	4	T>N		No	ClinGen TOPMed
rs767648718 CA7615925	6	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7615924 rs778436532	6	A>V		No	ClinGen ExAC gnomAD
CA271515913 rs927267367	7	W>*		No	ClinGen Ensembl
CA392878505 rs1595962152	8	V>E		No	ClinGen Ensembl
CA7615923 rs147074739	8	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615922 rs147074739	8	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333093143 CA392878447	10	S>F		No	ClinGen TOPMed
CA7615920 rs568379788	11	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1437534890 CA392878314	16	V>D		No	ClinGen TOPMed
rs1258940046 CA392878324	16	V>I		No	ClinGen TOPMed
CA7615918 rs755015707	19	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7615917 rs755015707	19	V>M		No	ClinGen ExAC TOPMed gnomAD
rs145740377 CA7615898	21	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs145740377 CA392878014	21	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1348729686 CA392878004	22	R>K		No	ClinGen TOPMed
rs758672979 CA7615896	23	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7615897 rs766455014	23	Q>R		No	ClinGen ExAC gnomAD
CA7615894 rs750633384	25	M>T		No	ClinGen ExAC gnomAD
CA392877919 rs1374786172	27	T>I		No	ClinGen TOPMed
CA392877928 rs1595961142	27	T>P		No	ClinGen Ensembl
CA7615893 rs765659584	28	Q>H		No	ClinGen ExAC gnomAD
CA392877913 rs1409564916	28	Q>P		No	ClinGen TOPMed
CA7615892 rs762170963	29	S>*		No	ClinGen ExAC TOPMed gnomAD
CA392877902 rs762170963	29	S>L		No	ClinGen ExAC TOPMed gnomAD
CA392877907 rs1286895830	29	S>P		No	ClinGen TOPMed
CA7615891 rs776998144	30	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1413439391 CA392877900	30	V>I		No	ClinGen Ensembl
CA392877882 rs1363360795	31	R>K		No	ClinGen TOPMed gnomAD
rs376056316 CA271514900	34	Q>*		No	ClinGen ESP TOPMed
CA392877717 rs1595961110	39	N>T		No	ClinGen Ensembl
CA271514897 rs919407776	40	P>R		No	ClinGen Ensembl
TCGA novel	41	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392877655 rs1222541013	42	I>F		No	ClinGen gnomAD
rs963471209 CA271514875	44	A>V		No	ClinGen Ensembl
rs764531253 CA7615890	46	P>T		No	ClinGen ExAC gnomAD
rs149776878 CA7615888	48	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615887 rs140922193	49	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300453543 CA392877423	50	L>V		No	ClinGen gnomAD
CA392877398 rs1419787041	51	E>V		No	ClinGen gnomAD
CA392877223 rs1595960807	53	P>T		No	ClinGen Ensembl
rs987852421 CA271514492	56	W>*		No	ClinGen TOPMed
CA7615865 rs372505925	57	T>A		No	ClinGen ESP ExAC gnomAD
CA392876026 rs867112861	58	T>A		No	ClinGen gnomAD
CA271514476 rs867112861	58	T>S		No	ClinGen gnomAD
CA271514470 rs2585033 VAR_022768	59	W>L		No	ClinGen UniProt Ensembl dbSNP
CA392875953 rs1235854127	60	F>L		No	ClinGen TOPMed
rs1255204367 CA392875905	63	D>N		No	ClinGen TOPMed gnomAD
rs200478212 CA7615863	65	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347042330 CA392875818	66	G>D		No	ClinGen gnomAD
CA7615860 rs371376958	68	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs757512039 CA7615858	69	G>C		No	ClinGen ExAC TOPMed gnomAD
CA7615855 rs756504341	70	D>E		No	ClinGen ExAC gnomAD
rs199811507 CA7615856	70	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760076237 COSM70190 CA7615852	73	R>Q	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs368935809 COSM1248342 CA7615853	73	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7615851 rs749988854	75	D>H		No	ClinGen ExAC TOPMed gnomAD
rs368344609 CA7615849	76	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7615848 rs776344445	78	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs111290227 CA7615847	78	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111290227 CA392875577	78	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	79	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775217926 CA7615845	80	Y>H		No	ClinGen ExAC gnomAD
CA7615842 rs143749221	81	Y>*		No	ClinGen ESP ExAC gnomAD
CA7615844 rs200310910	81	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs771039073 CA392875516	82	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7615841 rs771039073	82	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7615839 rs778069071	83	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1243095228 CA392875487	84	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs756238923 CA7615838	84	R>H		No	ClinGen ExAC TOPMed gnomAD
rs748572656 CA7615837	85	V>L		No	ClinGen ExAC gnomAD
CA271514369 rs773568646	86	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1266276425 CA392875449	86	C>R		No	ClinGen TOPMed
rs773568646 CA7615836	86	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7615835 rs370820076	87	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615834 rs558660248	88	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615833 rs376150356 COSM1517265	88	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA271514350 rs558660248	88	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756799843 CA7615832	89	P>S		No	ClinGen ExAC gnomAD
CA271514330 rs148640463	91	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763830525 CA7615830	91	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7615831 rs148640463	91	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775306064 CA7615828	92	L>V		No	ClinGen ExAC gnomAD
CA7615826 rs552820264 CA7615827	93	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	93	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374045624 CA7615825	94	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615824 rs143925933	95	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271514318 rs925006508	96	T>A		No	ClinGen TOPMed
rs749404247 CA7615823	100	T>A		No	ClinGen ExAC gnomAD
CA7615821 rs149463144	101	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs567307208 CA7615820	102	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1443087391 CA392875077	103	G>D		No	ClinGen TOPMed gnomAD
CA392875058 rs1222486829	104	S>N		No	ClinGen TOPMed
CA392875014 rs747315095	105	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7615817 rs747315095	105	T>S		No	ClinGen ExAC TOPMed gnomAD
CA392874995 rs1321907353	106	G>D		No	ClinGen gnomAD
rs1407277452 CA392874938	108	V>L		No	ClinGen gnomAD
CA392874886 rs1253654126	109	V>A		No	ClinGen TOPMed
CA7615815 rs758783130	109	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1417585474 CA392874850	110	H>R		No	ClinGen gnomAD
rs1180991033 CA392874813	112	S>G		No	ClinGen TOPMed
rs991956704 CA271514274	113	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7615812 rs536742270	114	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536742270 CA7615813	114	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615810 COSM3386986 rs571248185	114	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs571248185 CA7615811	114	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615809 rs759339509	115	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1200303555 CA392874665	116	G>D		No	ClinGen gnomAD
rs1025522121 CA271514233	118	W>*		No	ClinGen TOPMed
CA7615808 rs751305966	120	L>F		No	ClinGen ExAC TOPMed gnomAD
rs575658446 CA392874527 CA7615807	121	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7615806 rs762763739	124	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA392874423 rs762763739	124	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs139011656 CA7615804	125	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615805 rs773386993	125	R>W		No	ClinGen ExAC TOPMed gnomAD
CA392874170 rs1381668104	130	C>R		No	ClinGen TOPMed
CA392874143 rs1228936852	131	S>C		No	ClinGen TOPMed
rs1228936852 CA392874141	131	S>F		No	ClinGen TOPMed
TCGA novel	131	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1028165562 CA271514200	132	N>S		No	ClinGen TOPMed
CA392874023 rs1555416462	134	T>I		No	ClinGen Ensembl
CA7615802 rs147442122	135	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA271514188 rs147442122	135	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM296825 rs142891097 CA7615801	136	R>C	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7615800 rs376488192	136	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376488192 CA271514178	136	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	138	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746341372 CA392873817	139	C>*		No	ClinGen ExAC TOPMed gnomAD
rs772675761 CA7615798	139	C>F		No	ClinGen ExAC gnomAD
rs1422893751 CA392873726	141	P>L		No	ClinGen TOPMed gnomAD
CA392873738 rs1413852857	141	P>S		No	ClinGen gnomAD
CA7615776 rs771377748	142	G>A		No	ClinGen ExAC TOPMed
rs145973133 CA7615775	143	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145973133 CA7615774	143	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1227583870 CA392873426	143	S>T		No	ClinGen gnomAD
rs145973133 CA392873421	143	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs754670762 CA7615773	144	L>P		No	ClinGen ExAC
COSM1201213 rs1429960914 CA392873359	145	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs371987972 CA7615772 COSM964036	145	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs371987972 CA392873352	145	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs143595740 CA7615771	146	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615770 rs758135189	146	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392873313 rs1320795825	147	D>N		No	ClinGen TOPMed
rs1229743520 CA392873303	147	D>V		No	ClinGen TOPMed
CA7615769 rs750177235	148	T>I		No	ClinGen ExAC gnomAD
CA392873276 rs1354773326	149	E>K		No	ClinGen gnomAD
CA7615768 rs765292514	150	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765576689 CA7615766	150	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7615767 rs765576689	150	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765292514 CA392873254	150	R>S		No	ClinGen ExAC TOPMed gnomAD
rs761037666 CA7615764	152	W>*		No	ClinGen ExAC gnomAD
rs1445780308 CA392873188	152	W>C		No	ClinGen TOPMed gnomAD
rs1238061081 CA392873173	153	S>I		No	ClinGen gnomAD
CA7615762 rs767720214	154	P>Q		No	ClinGen ExAC gnomAD
rs775572737 CA7615763	154	P>S		No	ClinGen ExAC gnomAD
rs775572737 CA392873157	154	P>T		No	ClinGen ExAC gnomAD
rs774737829 CA7615760	155	W>R		No	ClinGen ExAC gnomAD
rs1221108989 CA392873096	156	S>F		No	ClinGen gnomAD
CA7615759 rs771467466	157	P>S		No	ClinGen ExAC gnomAD
CA7615758 rs749769430	158	W>*		No	ClinGen ExAC TOPMed gnomAD
CA392873004 rs1246360174	161	C>R		No	ClinGen gnomAD
CA271513282 rs527679615	162	S>L		No	ClinGen TOPMed
rs776174559 CA7615757	163	A>T		No	ClinGen ExAC TOPMed gnomAD
rs768147040 CA7615756	164	A>T		No	ClinGen ExAC gnomAD
CA392872932 rs1243754879	165	C>F		No	ClinGen gnomAD
CA7615755 rs746463351	165	C>R		No	ClinGen ExAC TOPMed gnomAD
CA7615752 rs757308888	167	Q>*		No	ClinGen ExAC gnomAD
CA7615750 rs757308888	167	Q>E		No	ClinGen ExAC gnomAD
rs757308888 CA7615751	167	Q>K		No	ClinGen ExAC gnomAD
rs764337893 CA7615748	169	G>R		No	ClinGen ExAC gnomAD
rs1566996446 CA392872832	171	Q>*		No	ClinGen Ensembl
TCGA novel	171	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271513259 rs754080911	172	T>S		No	ClinGen TOPMed
CA7615746 rs148331275	173	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615745 rs369581577	173	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1157521055 CA392872789	174	T>A		No	ClinGen gnomAD
rs1157521055 CA392872788	174	T>S		No	ClinGen gnomAD
rs201181827 CA7615743	175	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7615742 COSM193851 rs143279369	175	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1190632303 CA392872763	176	I>L		No	ClinGen gnomAD
CA392872719 rs1487633277	178	L>S		No	ClinGen gnomAD
rs1487633277 CA392872717	178	L>W		No	ClinGen gnomAD
rs1271262036 CA392872705	179	A>T		No	ClinGen gnomAD
CA271513253 rs996758200	181	M>I		No	ClinGen TOPMed gnomAD
CA7615741 rs766713522	183	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1040885264 CA271513229	185	C>W		No	ClinGen TOPMed
TCGA novel	185	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	186	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549122599 CA7615738	186	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA7615737 rs746525780	188	A>D		No	ClinGen ExAC TOPMed gnomAD
CA271513159 rs895966644	190	E>D		No	ClinGen TOPMed
CA271513164 rs373364980	190	E>G		No	ClinGen Ensembl
rs771666368 CA7615735 COSM1517267	190	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392872458 rs1222275428	192	G>D		No	ClinGen TOPMed
rs1405979286 CA392872404	193	Q>H		No	ClinGen TOPMed gnomAD
CA7615734 rs745512630	194	H>D		No	ClinGen ExAC TOPMed gnomAD
CA392872402 rs745512630	194	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA392872332 rs1182801265	196	M>I		No	ClinGen TOPMed
CA392872310 rs1455820796	197	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	199	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269481292 CA392872271	199	D>H		No	ClinGen Ensembl
rs1042687547 CA271513156	200	C>*		No	ClinGen Ensembl
CA392871236 rs1462311106	203	C>R		No	ClinGen gnomAD
CA392871199 rs1263230982	204	D>E		No	ClinGen TOPMed gnomAD
rs897620584 CA271512627	204	D>N		No	ClinGen TOPMed
CA392871192 rs1197383701	205	L>M		No	ClinGen gnomAD
CA7615709 rs114627975	206	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230144987 CA392871087	208	P>A		No	ClinGen TOPMed gnomAD
rs1230144987 CA392871085	208	P>S		No	ClinGen TOPMed gnomAD
CA7615707 rs751578317	210	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	212	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392870879 rs1451081314	214	A>V		No	ClinGen TOPMed gnomAD
rs764627822 CA7615704	216	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1566996090 CA392870681	218	A>V		No	ClinGen Ensembl
CA392870668 rs1394667640	219	C>G		No	ClinGen gnomAD
rs368351726 CA7615703	220	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615702 rs750831011	221	C>*		No	ClinGen ExAC gnomAD
rs199603385 CA271512605	221	C>G		No	ClinGen 1000Genomes gnomAD
rs201910272 CA7615701	222	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615699 rs764443227	223	D>E		No	ClinGen ExAC TOPMed gnomAD
rs762285610 CA7615700	223	D>H		No	ClinGen ExAC gnomAD
CA7615696 rs557999384	225	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271512577 rs1048567222	225	M>K		No	ClinGen Ensembl
rs759132483 CA7615697	225	M>V		No	ClinGen ExAC gnomAD
CA7615695 rs770745634	227	H>Q		No	ClinGen ExAC gnomAD
rs145919613 CA7615694	232	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392870257 rs1325029254	232	L>P		No	ClinGen TOPMed
CA392870253 rs1223643919	233	P>S		No	ClinGen TOPMed
CA392870234 rs764398648	234	G>*		No	ClinGen ExAC gnomAD
CA392870229 rs1385662139	234	G>E		No	ClinGen gnomAD
CA7615692 rs764398648	234	G>R		No	ClinGen ExAC gnomAD
TCGA novel	235	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146865050 CA7615691	235	G>D		No	ClinGen ESP ExAC gnomAD
rs1316286387 CA392870223	235	G>S		No	ClinGen gnomAD
rs1595959555 CA392870214	236	A>P		No	ClinGen Ensembl
rs977175070 CA271512534	238	A>G		No	ClinGen TOPMed
rs1421607256 CA392870189	238	A>T		No	ClinGen gnomAD
CA7615690 rs776641310	241	A>S		No	ClinGen ExAC TOPMed gnomAD
rs143814711 CA271512515	243	I>V		No	ClinGen ESP TOPMed gnomAD
COSM232040 CA7615688 rs747125612	244	Y>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392870062 rs747125612	244	Y>S		No	ClinGen ExAC gnomAD
CA392870034 rs1191774986	246	L>P		No	ClinGen TOPMed
rs779213596 CA7615684	247	T>I		No	ClinGen ExAC gnomAD
CA271512483 rs536659943	247	T>P		No	ClinGen gnomAD
rs1266279102 CA392870006	248	K>N		No	ClinGen TOPMed gnomAD
rs1450692001 CA392870011	248	K>R		No	ClinGen gnomAD
rs377343450 CA7615683 COSM3927517	249	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs142554152 CA7615681	250	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201098875 CA7615678	257	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1281352641 CA392869915	257	D>H		No	ClinGen TOPMed gnomAD
CA271512453 rs767655722	262	F>V		No	ClinGen TOPMed
RCV001196752 CA392869809 COSM964034 rs1301495780	263	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1018308810 CA271512448	263	R>Q		No	ClinGen TOPMed gnomAD
rs569986336 CA7615676	265	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392869749 rs1365961791	267	L>W		No	ClinGen gnomAD
CA7615673 rs761688387	268	C>*		No	ClinGen ExAC TOPMed gnomAD
CA271512426 rs147353521	268	C>F		No	ClinGen ESP TOPMed gnomAD
rs148415615 CA7615675	268	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392869729 rs1158675361	269	P>S		No	ClinGen TOPMed gnomAD
rs550166598 CA7615672	270	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271512402 rs879120858	271	G>D		No	ClinGen Ensembl
rs377719940 CA7615670	274	I>M		No	ClinGen ESP ExAC gnomAD
CA7615669 rs184836378	278	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271512399 rs958405153	279	K>E		No	ClinGen Ensembl
CA392869606 rs1215429369	280	V>G		No	ClinGen TOPMed gnomAD
TCGA novel	280	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	281	K>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392869578 rs1286894920	284	P>L		No	ClinGen gnomAD
rs376209768 CA271512398	285	I>V		No	ClinGen ESP TOPMed
CA7615666 rs200965976	287	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367217239 CA392869563	287	L>P		No	ClinGen TOPMed
rs200965976 CA7615667	287	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392869501 rs1322868994	290	P>T		No	ClinGen gnomAD
CA392869477 rs1424841802	291	K>N		No	ClinGen TOPMed
rs757374192 CA7615665	291	K>T		No	ClinGen ExAC gnomAD
rs1225572381 CA392869470	292	T>A		No	ClinGen gnomAD
rs1346330082 CA392869446	293	S>T		No	ClinGen gnomAD
CA7615664 rs547675243	296	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615663 rs777976230	297	A>V		No	ClinGen ExAC gnomAD
rs891100886 CA271512360	298	T>A		No	ClinGen TOPMed
rs756742823 CA7615662	298	T>I		No	ClinGen ExAC gnomAD
CA392869334 rs1257647427	300	K>E		No	ClinGen TOPMed gnomAD
CA7615660 rs79293410	300	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615659 rs140625947	301	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615658 rs749851177	303	F>C		No	ClinGen ExAC TOPMed gnomAD
CA392869257 rs749851177	303	F>S		No	ClinGen ExAC TOPMed gnomAD
CA7615656 rs201209186	305	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	307	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7615655 rs147212329	307	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271511795 rs942420744	308	T>I		No	ClinGen TOPMed gnomAD
CA7615637 rs756993754	309	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756993754 CA392869032	309	P>T		No	ClinGen ExAC TOPMed gnomAD
rs149518316 CA7615634	310	Y>*		No	ClinGen ESP ExAC gnomAD
CA7615635 rs753429463	310	Y>H		No	ClinGen ExAC gnomAD
rs1317046069 CA392868970	311	M>I		No	ClinGen gnomAD
rs1054491129 CA271511731	311	M>T		No	ClinGen TOPMed
CA7615633 rs760480062	311	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7615632 rs199878022	312	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615631 rs767476139 CA392868923	314	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1296156345 CA392868922	315	P>A		No	ClinGen gnomAD
CA392868911 rs1478437031	315	P>L		No	ClinGen TOPMed
CA392868851 rs1424313139	318	K>N		No	ClinGen TOPMed
CA392868846 rs1595959020	319	A>T		No	ClinGen Ensembl
CA7615629 rs774543905	319	A>V		No	ClinGen ExAC gnomAD
CA392868831 rs763019001	320	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7615626 rs35112728	320	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615627 rs763019001	320	R>W		No	ClinGen ExAC TOPMed gnomAD
rs185181701 CA7615625	322	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201107273 CA7615624	323	G>A		No	ClinGen 1000Genomes ExAC
rs548136647 CA271511653	326	V>A		No	ClinGen 1000Genomes
COSM1708307 CA7615622 rs769257680	326	V>M	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
VAR_022769	327	S>F		No	UniProt
rs1481758954 CA392868637	329	C>S		No	ClinGen gnomAD
rs1566995542 CA392868648	329	C>S		No	ClinGen Ensembl
CA392868616 rs1233617143	331	K>E		No	ClinGen TOPMed gnomAD
CA392868603 rs1489782236	332	A>V		No	ClinGen gnomAD
CA392868595 rs1246601271	334	G>R		No	ClinGen gnomAD
TCGA novel	334	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271511652 rs990898542	336	P>A		No	ClinGen TOPMed gnomAD
rs150230386 CA7615619	336	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392868548 rs1373640539	337	R>K		No	ClinGen gnomAD
CA7615618 rs753291595	337	R>S		No	ClinGen ExAC gnomAD
CA392868522 rs1353516210	339	D>G		No	ClinGen TOPMed
CA7615617 rs141889573	339	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214724092 CA392868508	340	K>E		No	ClinGen TOPMed
CA392868480 rs1338033533	341	Y>C		No	ClinGen gnomAD
CA392868487 rs752535369	341	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs752535369 CA7615615	341	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA7615613 rs759581623	342	F>S		No	ClinGen ExAC gnomAD
TCGA novel	343	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199339089 CA392868137	344	Y>C		No	ClinGen gnomAD
CA7615590 rs758378541	345	H>R		No	ClinGen ExAC gnomAD
rs1188201105 CA392868101	346	N>K		No	ClinGen gnomAD
CA7615589 rs750577530	346	N>S		No	ClinGen ExAC gnomAD
rs372356896 CA7615588	347	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA392868080 rs1261981788	347	D>E		No	ClinGen gnomAD
rs762194365 CA7615587	348	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776997614 CA7615586	351	D>A		No	ClinGen ExAC gnomAD
rs1239384068 CA392868005	352	P>T		No	ClinGen TOPMed
CA7615585 rs138268958	354	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA392867961 rs1234468596	355	Y>C		No	ClinGen gnomAD
CA7615584 rs760973054	358	E>D		No	ClinGen ExAC gnomAD
CA7615583 rs775887125	359	S>R		No	ClinGen ExAC TOPMed gnomAD
rs772498958 CA7615582	359	S>T		No	ClinGen ExAC gnomAD
CA7615581 rs772772706	361	L>M		No	ClinGen ExAC TOPMed gnomAD
rs772772706 CA7615580	361	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1408641930 CA392867782	362	V>M		No	ClinGen gnomAD
rs375170690 CA271510676	364	R>T		No	ClinGen ESP TOPMed
rs1566995037 CA392867697	367	Q>K		No	ClinGen Ensembl
rs769294305 CA7615576	370	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	370	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201640053 CA271510666	373	E>A		No	ClinGen Ensembl
CA7615574 rs771830165	373	E>A		No	ClinGen ExAC gnomAD
rs1462244205 CA392867579	374	Y>*		No	ClinGen gnomAD
CA392867552 rs1256497546	376	C>F		No	ClinGen gnomAD
TCGA novel	378	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780729543 CA7615572	378	A>P		No	ClinGen ExAC gnomAD
rs371735478 CA7615570	379	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392867494 rs1362127423	380	S>R		No	ClinGen TOPMed
rs963227746 CA271510656	384	A>T		No	ClinGen gnomAD
CA7615568 rs779874552	385	V>M		No	ClinGen ExAC gnomAD
CA392867416 rs1450597777	386	K>N		No	ClinGen gnomAD
rs1385080197 CA392867399	388	K>E		No	ClinGen gnomAD
rs1385080197 CA392867401	388	K>Q		No	ClinGen gnomAD
CA392867385 rs1335172428	389	V>I		No	ClinGen gnomAD
rs1391053578 CA392867362	390	A>V		No	ClinGen TOPMed gnomAD
rs750383086 CA7615566	391	Q>*		No	ClinGen ExAC gnomAD
rs201892140 CA392867351	391	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201892140 CA7615565	391	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs757426664 CA7615564	392	L>P		No	ClinGen ExAC gnomAD
TCGA novel	396	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392866694 rs1331237548	397	S>P		No	ClinGen TOPMed
COSM700685 CA392866647 rs1473157143	399	E>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7615553 rs140474988	399	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA392866634 rs1268643830	400	T>I		No	ClinGen gnomAD
rs267604290 CA271508883	401	P>S		No	ClinGen gnomAD
rs146884487 CA7615551	404	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392866565 rs1291188395	404	P>T		No	ClinGen gnomAD
rs1267940445 CA392866522	406	P>A		No	ClinGen TOPMed
CA392866499 rs1348624871	407	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392866472 rs1290505507	408	S>R		No	ClinGen gnomAD
CA7615549 rs771998538	409	Y>C		No	ClinGen ExAC gnomAD
CA392866409 rs1290879205	410	L>R		No	ClinGen TOPMed
CA392866380 rs375744065	411	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA271508851 rs201720248	411	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7615546 rs149200433	412	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs145150482 CA7615547	412	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs201483229 CA7615545	414	P>S		No	ClinGen ExAC gnomAD
rs199950400 CA392866343	415	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615544 rs199950400	415	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1159184715 CA392866342	415	H>Q		No	ClinGen TOPMed gnomAD
CA7615542 rs752966202	418	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7615541 rs767664285	418	F>L		No	ClinGen ExAC gnomAD
CA392866263 rs1164580203	422	T>A		No	ClinGen TOPMed
TCGA novel	427	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392866175 rs1480841190	428	D>N		No	ClinGen gnomAD
CA7615538 rs150023863	429	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615537 rs142998109	431	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM964031 CA7615536 rs776061400	431	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7615535 rs776061400 COSM1517269	431	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7615533 rs760039743	434	V>A		No	ClinGen ExAC TOPMed gnomAD
rs147788917 CA271508807	434	V>F		No	ClinGen ESP ExAC TOPMed
CA7615534 rs147788917	434	V>L		No	ClinGen ESP ExAC TOPMed
rs1355944450 CA392866062	435	K>N		No	ClinGen TOPMed
rs1220317559 CA392866058	436	T>A		No	ClinGen TOPMed
rs1276907106 CA392866045	437	C>Y		No	ClinGen TOPMed
rs1357295990 CA392866034	438	A>T		No	ClinGen TOPMed gnomAD
rs1261476280 CA392866025	438	A>V		No	ClinGen gnomAD
CA271508796 rs144228125	439	G>E		No	ClinGen ESP
CA7615532 rs775222246	440	Q>H		No	ClinGen ExAC gnomAD
CA392865998 rs1269588045	441	Q>E		No	ClinGen gnomAD
CA392865985 rs1312103267	442	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771802247 CA7615531	442	D>V		No	ClinGen ExAC gnomAD
rs745693039 CA7615530	444	G>V		No	ClinGen ExAC TOPMed gnomAD
CA271508738 rs201362899	445	I>T		No	ClinGen TOPMed gnomAD
rs1472284792 CA392865904	446	R>S		No	ClinGen TOPMed
CA392865884 rs1178135069	447	C>F		No	ClinGen gnomAD
rs201015610 CA7615528 COSM1374088	448	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs35714337 CA7615527	448	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392865849 rs1371933663	449	D>G		No	ClinGen TOPMed
CA392865761 rs1429847283	454	C>F		No	ClinGen TOPMed
TCGA novel	458	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392865695 rs1167630609	459	K>N		No	ClinGen gnomAD
CA392865683 rs1474729251	461	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1460905124 CA392865651	463	R>K		No	ClinGen gnomAD
COSM1708305 rs1241608367 CA392865644	464	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7615524 rs756228615	465	I>M		No	ClinGen ExAC TOPMed gnomAD
rs374499452 CA271508721	465	I>V		No	ClinGen Ensembl
rs1398107882 CA392865621	466	Q>*		No	ClinGen TOPMed
rs878889782 CA271508705 CA392865566	470	Y>*		No	ClinGen gnomAD
CA7615521 rs867716353	471	T>M		No	ClinGen TOPMed gnomAD
CA392865558 rs867716353	471	T>R		No	ClinGen TOPMed gnomAD
rs1227767798 CA392865552	472	L>P		No	ClinGen TOPMed
rs1161270856 CA392865535	474	T>I		No	ClinGen gnomAD
CA392865543 rs1595956806	474	T>P		No	ClinGen Ensembl
CA392865524 rs1344259202	475	K>N		No	ClinGen gnomAD
rs1595956801 CA392865515	476	V>G		No	ClinGen Ensembl
rs1250650832 CA392865520	476	V>M		No	ClinGen TOPMed
rs781420646 CA7615520	477	A>V		No	ClinGen ExAC gnomAD
rs766715451 CA7615517	479	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7615519 rs191200283	479	E>Q		No	ClinGen 1000Genomes ExAC
rs758894075 CA7615516	480	C>*		No	ClinGen ExAC TOPMed gnomAD
CA7615514 rs370970341	484	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615513 rs370970341 COSM1201212	484	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs527396607 CA7615515	484	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775100754 CA7615512	485	C>R		No	ClinGen ExAC gnomAD
CA392864703 rs1428191626	485	C>Y		No	ClinGen gnomAD
CA271506578 rs370689957	486	T>A		No	ClinGen ESP TOPMed gnomAD
CA7615511 rs147228485	486	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615509 rs376044880	488	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615507 rs60521346 COSM193850	489	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200188398 CA7615508	489	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs952646513 CA271506543	490	S>C		No	ClinGen Ensembl
rs1232468782 CA392864655	490	S>N		No	ClinGen gnomAD
rs148467279 CA7615506	492	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201168275 CA7615504	493	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615505 rs144548738	493	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs202163505 CA7615502	495	R>C		No	ClinGen 1000Genomes ExAC gnomAD
COSM3690496 rs149286218 VAR_069430 CA7615501	495	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA392864572 rs1372214787	496	V>D		No	ClinGen gnomAD
CA392864578 rs1566993695	496	V>I		No	ClinGen Ensembl
CA7615500 rs780185502	497	S>R		No	ClinGen ExAC gnomAD
CA392864524 rs1235402852	499	A>V		No	ClinGen TOPMed
CA7615498 rs187578293	500	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392864493 rs1282724558	501	N>S		No	ClinGen gnomAD
rs868202707 CA271506454	502	G>V		No	ClinGen Ensembl
CA392864453 rs1322488259	503	E>D		No	ClinGen TOPMed
CA392864420 rs1424453070	505	M>I		No	ClinGen gnomAD
rs1167031023 CA392864424	505	M>R		No	ClinGen TOPMed gnomAD
rs1167031023 CA392864426	505	M>T		No	ClinGen TOPMed gnomAD
rs558312745 CA7615497	505	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs370038983 CA7615496	506	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA392864395 rs1175687378	506	R>H		No	ClinGen TOPMed gnomAD
rs370038983 CA271506444	506	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435409278 CA392864371	507	F>Y		No	ClinGen TOPMed
CA7615494 rs146324137	509	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759331916 CA392864324	510	V>A		No	ClinGen ExAC gnomAD
rs759331916 CA7615493	510	V>E		No	ClinGen ExAC gnomAD
rs1021313261 CA271506419	510	V>M		No	ClinGen Ensembl
rs765896173 CA7615491	512	M>I		No	ClinGen ExAC gnomAD
CA392864289 rs1267117508	512	M>K		No	ClinGen TOPMed gnomAD
rs1267117508 CA392864286	512	M>T		No	ClinGen TOPMed gnomAD
CA7615492 rs201162575	512	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA271506374 rs946260460	513	G>E		No	ClinGen TOPMed
rs141983009 CA7615490	513	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	514	N>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456976173 CA392864244	515	S>G		No	ClinGen TOPMed
CA7615488 rs376689702	516	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7615487 rs372849933	516	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392864213 rs1289406731	517	V>I		No	ClinGen gnomAD
CA7615485 rs372490287	519	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs776756867 CA7615486	519	M>L		No	ClinGen ExAC TOPMed gnomAD
CA7615484 rs747035407	520	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7615482 rs758509559	521	G>C		No	ClinGen ExAC gnomAD
CA7615478 rs754395795	522	Y>*		No	ClinGen ExAC gnomAD
CA7615480 rs779129214	522	Y>D		No	ClinGen ExAC gnomAD
CA392864089 rs1431198074	524	G>D		No	ClinGen gnomAD
CA7615476 rs754555366	525	T>A		No	ClinGen ExAC TOPMed gnomAD
rs766092650 CA7615474	527	T>A		No	ClinGen ExAC gnomAD
rs1258442792 CA392863998	529	H>Y		No	ClinGen TOPMed gnomAD
CA7615473 rs762490225	531	P>S		No	ClinGen ExAC gnomAD
rs764935261 CA7615471	532	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	532	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7615472 rs764935261	532	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs369489621 CA7615470	533	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA392863896 rs1191297258	534	T>A		No	ClinGen TOPMed
CA392863883 rs1223324795	534	T>I		No	ClinGen TOPMed gnomAD
rs1223324795 CA392863884	534	T>S		No	ClinGen TOPMed gnomAD
rs371906183 CA7615469	536	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs897760452 CA271506213	536	R>S		No	ClinGen TOPMed
CA7615468 rs768533910	538	V>G		No	ClinGen ExAC gnomAD
CA392863806 rs1387865533	538	V>L		No	ClinGen TOPMed gnomAD
CA392863803 rs1387865533	538	V>M		No	ClinGen TOPMed gnomAD
CA7615467 rs760776121	539	L>F		No	ClinGen ExAC TOPMed gnomAD
CA271506208 rs1016112110	539	L>P		No	ClinGen TOPMed
rs760776121 CA392863783	539	L>V		No	ClinGen ExAC TOPMed gnomAD
rs775402963 CA7615466	540	T>I		No	ClinGen ExAC gnomAD
CA7615465 rs772390387	542	V>A		No	ClinGen ExAC gnomAD
rs746069505 CA7615464	544	R>K		No	ClinGen ExAC
COSM381964 CA7615463 rs779404608	544	R>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392863598 rs1379170964	546	Q>*		No	ClinGen gnomAD
rs367717406 CA7615461	547	K>N		No	ClinGen ESP ExAC gnomAD
CA392863508 rs1364858961	549	V>F		No	ClinGen TOPMed
CA7615460 rs778453693	551	T>N		No	ClinGen ExAC gnomAD
rs1005887868 CA271506183	552	T>I		No	ClinGen TOPMed
CA392863432 rs1246065745	552	T>P		No	ClinGen gnomAD
CA7615459 rs756653291	553	K>T		No	ClinGen ExAC gnomAD
CA392863396 rs1479566489	554	V>L		No	ClinGen gnomAD
rs894101789 CA271506170	555	L>Q		No	ClinGen TOPMed
CA271506165 rs1048402547	558	N>D		No	ClinGen Ensembl
rs1464932780 CA392863264	559	K>E		No	ClinGen gnomAD
CA7615458 rs150281412	560	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA392863203 rs1595956545	561	G>E		No	ClinGen Ensembl
rs921181401 CA271506131	561	G>R		No	ClinGen Ensembl
CA271506123 rs750047210	564	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1478282 CA7615455 rs750047210	564	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA271506118 rs965240442	565	F>L		No	ClinGen gnomAD
rs373827827 CA7615454	568	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	569	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392862988 rs1566993490	570	M>I		No	ClinGen Ensembl
CA392862999 rs766316509	570	M>K		No	ClinGen ExAC TOPMed gnomAD
CA7615452 rs766316509	570	M>T		No	ClinGen ExAC TOPMed gnomAD
rs753593002 CA7615451 COSM3503161	572	R>C	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764059073 CA7615450	572	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7615448 rs775699319	573	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs141100101 CA7615449	573	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA392862885 rs2679118	575	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2679118 VAR_022771 CA7615447	575	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2679118 CA392862893	575	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615446 rs759598002	575	K>R		No	ClinGen ExAC
CA392862864 rs1163008674	576	P>S		No	ClinGen TOPMed
TCGA novel	582	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309699019 CA392862694	582	M>V		No	ClinGen TOPMed
rs749708471 CA7615443	585	N>D		No	ClinGen ExAC gnomAD
CA271506065 rs866356188	585	N>S		No	ClinGen Ensembl
rs1355070223 COSM3936825 CA392862579	586	I>V	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA271506043 rs942723895	587	I>M		No	ClinGen TOPMed gnomAD
rs374945156 CA7615442	587	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392862532 rs374945156	587	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615439 rs376138832	589	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615437 rs757859071	590	G>E		No	ClinGen ExAC gnomAD
rs778461184 CA7615434	594	G>D		No	ClinGen ExAC gnomAD
CA7615432 rs753684058	596	D>E		No	ClinGen ExAC gnomAD
CA392862314 rs1242634914	596	D>V		No	ClinGen TOPMed gnomAD
CA7615431 rs143772526	597	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392862288 rs143772526	597	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615430 rs756113113	598	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	599	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239652219 CA392862210	600	E>V		No	ClinGen TOPMed
TCGA novel	601	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	602	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761417111 CA7615427	605	S>P		No	ClinGen ExAC gnomAD
CA392862080 rs1160997475	606	R>W		No	ClinGen gnomAD
rs774454242 CA7615425	609	Y>*		No	ClinGen ExAC gnomAD
CA392861934 rs1483691131	611	Q>L		No	ClinGen TOPMed
rs1180627964 CA392861894	613	G>R		No	ClinGen TOPMed gnomAD
rs887208515 CA271505972	615	P>L		No	ClinGen Ensembl
rs1287111814 CA392861849	615	P>T		No	ClinGen TOPMed gnomAD
CA392861834 rs1454499159	616	Y>D		No	ClinGen TOPMed gnomAD
CA392861802 rs763251583	617	I>R		No	ClinGen ExAC TOPMed gnomAD
CA7615423 rs763251583	617	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1207694752 CA392861813	617	I>V		No	ClinGen gnomAD
CA392861793 rs1208182130	618	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1406608931 CA392861781	619	K>E		No	ClinGen gnomAD
rs1358559845 CA392861765	620	V>M		No	ClinGen gnomAD
rs1175406994 CA392861745	621	K>R		No	ClinGen gnomAD
CA7615420 rs748486808	623	S>C		No	ClinGen ExAC gnomAD
CA271505957 rs564148044	623	S>T		No	ClinGen Ensembl
CA7615419 rs777025663	625	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1595956397 CA392861712	625	T>P		No	ClinGen Ensembl
rs1409343402 CA392861693	626	F>L		No	ClinGen TOPMed
CA271505954 rs776406887	629	P>S		No	ClinGen gnomAD
rs199711765 CA7615417	630	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs530704700 CA7615418	630	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615415 rs756962779	633	S>F		No	ClinGen ExAC TOPMed gnomAD
rs200703143 CA7615416	633	S>P		No	ClinGen ExAC gnomAD
CA392861611 rs1335628550	634	T>I		No	ClinGen TOPMed
rs1335628550 COSM3361488 CA392861615	634	T>K	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs201651652 CA7615414	634	T>P		No	ClinGen ExAC gnomAD
CA392861609 rs1566993320	635	A>T		No	ClinGen Ensembl
rs1455346239 CA392861583	637	A>G		No	ClinGen gnomAD
rs777342124 CA7615413	639	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1566993305 CA618957117	640	T>*		No	ClinGen Ensembl
CA271505911 rs899871724	640	T>A		No	ClinGen Ensembl
rs1039618256 CA271505909	640	T>S		No	ClinGen TOPMed gnomAD
CA271505907 rs878877167	641	D>N		No	ClinGen Ensembl
CA7615412 rs374037707	642	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA271505899 rs912358998	643	N>H		No	ClinGen Ensembl
CA7615411 rs752493952	643	N>S		No	ClinGen ExAC gnomAD
CA392861515 rs1339307070	644	F>L		No	ClinGen TOPMed
rs1197356805 CA392861497	645	I>N		No	ClinGen gnomAD
rs961814997 CA271505877	646	N>S		No	ClinGen TOPMed gnomAD
rs148973916 CA392861474	647	D>A		No	ClinGen ESP gnomAD
rs199911017 CA7615410	647	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs148973916 CA271505869	647	D>V		No	ClinGen ESP gnomAD
CA7615408 rs147805917 COSM1478281	648	E>K	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs36086843 CA271505852	651	T>A		No	ClinGen TOPMed gnomAD
rs144293643 CA7615404	652	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771376236 CA7615403	653	P>L		No	ClinGen ExAC gnomAD
rs377170855 CA7615401	655	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142003410 CA7615402	655	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773920739 CA7615399	656	T>A		No	ClinGen ExAC gnomAD
CA7615398 rs770435086	656	T>M	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392861392 rs770435086	656	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1175505861 CA392861382	657	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1458152665 CA392861387	657	Y>H		No	ClinGen gnomAD
rs1171142109 CA392861356	659	M>I		No	ClinGen gnomAD
rs769454001 CA7615395	660	F>V		No	ClinGen ExAC gnomAD
TCGA novel	663	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595956280 CA392861318	663	D>N		No	ClinGen Ensembl
TCGA novel	664	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747938176 CA7615394	664	F>L		No	ClinGen ExAC gnomAD
CA271505775 rs906963603	666	D>N		No	ClinGen TOPMed
CA7615393 rs781026100	667	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780080727 CA7615390	669	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372689775 CA7615391	669	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs758573371 CA7615389	671	E>K		No	ClinGen ExAC gnomAD
CA271505753 rs1025072981	672	P>L		No	ClinGen gnomAD
CA392861176 rs1220693334	673	L>V		No	ClinGen gnomAD
rs765597566 CA7615388	675	A>P		No	ClinGen ExAC TOPMed gnomAD
rs765597566 CA7615387	675	A>T		No	ClinGen ExAC TOPMed gnomAD
rs148582730 CA7615385	678	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754215632 CA7615384	681	H>L		No	ClinGen ExAC gnomAD
rs561830434 CA7615383	682	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA7615382 rs760885125	683	D>H		No	ClinGen ExAC gnomAD
COSM1374086 rs775992863 CA7615381	684	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7615379 rs772523273	686	Q>H		No	ClinGen ExAC gnomAD
rs772682701 CA7615377	687	V>A		No	ClinGen ExAC gnomAD
CA7615378 rs762485503	687	V>I		No	ClinGen ExAC gnomAD
TCGA novel	688	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769387336 CA7615376	688	K>R		No	ClinGen ExAC gnomAD
rs747829928 CA7615375	689	M>I		No	ClinGen ExAC TOPMed gnomAD
rs780641361 CA271505687	690	P>S		No	ClinGen ExAC gnomAD
CA7615374 rs780641361	690	P>T		No	ClinGen ExAC gnomAD
rs201186001 CA7615372	693	I>L		No	ClinGen ExAC TOPMed gnomAD
CA392860861 rs1442785209	693	I>T		No	ClinGen TOPMed gnomAD
rs758380040 CA7615370	695	T>A		No	ClinGen ExAC gnomAD
rs762686916 CA271505678	699	W>*		No	ClinGen Ensembl
rs1297721137 CA392860728	700	S>P		No	ClinGen gnomAD
rs757488703 CA392860645	704	D>A		No	ClinGen ExAC TOPMed gnomAD
CA7615367 rs757488703	704	D>G		No	ClinGen ExAC TOPMed gnomAD
CA392860570 rs1427009353	709	E>A		No	ClinGen TOPMed
TCGA novel	709	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595956177 CA392860541	710	E>A		No	ClinGen Ensembl
CA392860522 COSM1708302 rs1421318323	711	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA392860496 rs1450704476	712	G>R		No	ClinGen TOPMed gnomAD
rs1450704476 CA392860508	712	G>S		No	ClinGen TOPMed gnomAD
rs1376458432 CA392860438	714	F>S		No	ClinGen TOPMed gnomAD
rs1307736993 CA392860408	715	K>N		No	ClinGen gnomAD
rs1428415353 CA392860385	716	F>C		No	ClinGen gnomAD
rs995585251 CA271505672	717	E>G		No	ClinGen TOPMed
CA7615365 rs764167212	718	N>D		No	ClinGen ExAC gnomAD
CA392860279 rs1171286517	721	R>K		No	ClinGen gnomAD
CA392860281 rs1171286517	721	R>T		No	ClinGen gnomAD
CA392860264 rs1566993106	722	N>I		No	ClinGen Ensembl
rs1404808749 CA392860240	723	K>R		No	ClinGen gnomAD
CA7615364 rs761054336	724	R>T		No	ClinGen ExAC gnomAD
rs142177709 CA7615363	728	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs142177709 CA7615361	728	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs142177709 CA7615362	728	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392860084 rs1566993092	731	V>A		No	ClinGen Ensembl
CA7615360 rs772774382	731	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	732	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769347962 CA7615359	732	G>R		No	ClinGen ExAC TOPMed gnomAD
CA392860025 rs1250808911	734	L>V		No	ClinGen gnomAD
rs1555415603 CA392859985	736	I>V		No	ClinGen Ensembl
rs562122822 CA7615358	737	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs776366924 CA7615357	737	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1327589806 CA392859883	740	R>K		No	ClinGen Ensembl
rs1275224612 CA392859864	741	L>F		No	ClinGen gnomAD
rs768154426 CA392859808	743	N>H		No	ClinGen ExAC TOPMed
rs768154426 CA7615356	743	N>Y		No	ClinGen ExAC TOPMed
rs1220268226 CA392859736	746	V>I		No	ClinGen gnomAD
CA271505633 rs943945981	747	P>S		No	ClinGen Ensembl
TCGA novel	747	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566993053 CA392859667	750	R>G		No	ClinGen Ensembl
CA7615352 rs139906949	751	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775403820 CA7615354	751	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7615351 rs745797617	752	C>F		No	ClinGen ExAC TOPMed gnomAD
CA392859605 rs1221572938	752	C>R		No	ClinGen TOPMed
rs778651058 CA7615350	753	F>L		No	ClinGen ExAC TOPMed gnomAD
rs77484154 CA271505612	754	V>F		No	ClinGen ExAC gnomAD
rs77484154 CA7615349	754	V>L		No	ClinGen ExAC gnomAD
CA271505607 rs961888738	756	V>A		No	ClinGen TOPMed
rs1352908621 CA392859526	756	V>L		No	ClinGen gnomAD
CA7615348 rs749281045	758	A>T		No	ClinGen ExAC gnomAD
rs769904740 CA7615346 COSM964026	760	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778091424 CA7615347	760	R>W		No	ClinGen ExAC gnomAD
rs753113924 CA7615345	761	S>N		No	ClinGen ExAC gnomAD
CA392859352 rs1411477653	763	R>K		No	ClinGen gnomAD
CA7615343 rs755266753	763	R>S		No	ClinGen ExAC gnomAD
rs752118200 CA7615342	764	F>L		No	ClinGen ExAC gnomAD
CA271505542 rs984749521	767	S>G		No	ClinGen TOPMed gnomAD
rs1385381218 CA392859258	767	S>T		No	ClinGen TOPMed
CA7615341 rs766746683	768	E>K		No	ClinGen ExAC gnomAD
rs775973375 CA7615339	769	Q>E		No	ClinGen ExAC gnomAD
CA7615338 rs760391220	770	I>M		No	ClinGen ExAC TOPMed gnomAD
rs775493796 CA271505514	771	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7615336 rs775493796	771	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7615335 rs771998630	771	Q>P		No	ClinGen ExAC gnomAD
rs745603261 CA7615334	772	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	772	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774370686 CA392859114	773	V>F		No	ClinGen ExAC TOPMed gnomAD
rs774370686 CA7615333	773	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749430432 CA7615331	777	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1566992973 CA392859022	778	I>F		No	ClinGen Ensembl
rs1388264094 CA392859012	778	I>T		No	ClinGen gnomAD
CA392858987 rs1318765598	779	N>I		No	ClinGen gnomAD
CA7615329 rs756391101	781	E>D		No	ClinGen ExAC gnomAD
CA392858931 rs1425385135	781	E>G		No	ClinGen TOPMed gnomAD
CA7615328 rs748370878	784	T>S		No	ClinGen ExAC gnomAD
rs185923499 CA7615326	785	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615327 rs781330929	785	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1249640796 CA392858770	787	L>F		No	ClinGen TOPMed
CA271505477 rs1009981427	789	N>S		No	ClinGen TOPMed gnomAD
CA7615322 rs758809323	791	R>G		No	ClinGen ExAC gnomAD
rs1189123699 CA392858629	791	R>S		No	ClinGen TOPMed
rs753446374 CA7615321	792	A>S		No	ClinGen ExAC gnomAD
rs1465019931 CA392858591	793	W>S		No	ClinGen gnomAD
rs760197046 CA7615319	794	G>D		No	ClinGen ExAC gnomAD
rs760197046 CA7615320	794	G>V		No	ClinGen ExAC gnomAD
rs146342304 CA7615318	795	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615317 rs564594161	795	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271505444 rs564594161	795	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	797	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200078466 CA7615316	797	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1055013334 CA271505424	800	I>L		No	ClinGen TOPMed
CA7615314 rs369616199	804	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392858301 rs1437587312	805	G>R		No	ClinGen gnomAD
rs773130986 CA7615312	806	A>T		No	ClinGen ExAC gnomAD
CA392858264 rs1555415559	807	C>Y		No	ClinGen Ensembl
rs951542670 CA271505385	808	V>G		No	ClinGen TOPMed gnomAD
CA392858230 rs1398157335	809	P>S		No	ClinGen TOPMed
CA392858214 rs1337595657	810	A>T		No	ClinGen TOPMed
rs1382343239 CA392858200	810	A>V		No	ClinGen TOPMed
rs769873280 CA7615311	812	C>F		No	ClinGen ExAC gnomAD
CA392858121 rs1450518462	813	D>E		No	ClinGen TOPMed
rs1360892633 CA392858119	814	D>N		No	ClinGen TOPMed gnomAD
rs561910317 CA271505381	814	D>V		No	ClinGen Ensembl
rs748174703 CA7615310	815	Q>*		No	ClinGen ExAC gnomAD
rs1448735505 CA392858091	815	Q>R		No	ClinGen gnomAD
rs1189897562 CA392858050	817	P>L		No	ClinGen gnomAD
rs747449154 CA7615307	819	A>V		No	ClinGen ExAC gnomAD
rs780269368 CA7615306	820	Y>C		No	ClinGen ExAC gnomAD
rs780269368 CA392856905	820	Y>S		No	ClinGen ExAC gnomAD
CA7615305 rs759011067	822	A>T		No	ClinGen ExAC gnomAD
CA7615304 rs750899939	824	V>I		No	ClinGen ExAC gnomAD
rs1595955926 CA392856856	825	L>F		No	ClinGen Ensembl
rs1212228069 CA392856860	825	L>S		No	ClinGen TOPMed gnomAD
CA392856812 rs1295524682	830	G>R		No	ClinGen gnomAD
CA392856800 rs1230668750	831	E>G		No	ClinGen TOPMed gnomAD
rs934002108 CA271505318	831	E>K		No	ClinGen TOPMed gnomAD
CA392856799 rs1230668750	831	E>V		No	ClinGen TOPMed gnomAD
CA7615301 rs752217158	836	V>M		No	ClinGen ExAC gnomAD
rs1312274534 CA392856700	839	S>F		No	ClinGen gnomAD
CA7615299 rs142030889	843	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA392856606 rs1595955896	845	N>K		No	ClinGen Ensembl
CA7615298 rs138842323	847	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615296 rs376060973	849	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773153672 CA7615295	850	P>A		No	ClinGen ExAC gnomAD
CA392856476 rs1425114081	853	Y>N		No	ClinGen gnomAD
rs182779628 CA7615291	860	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182779628 CA7615292	860	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747192055 CA7615290	860	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772338702 CA7615288	861	R>Q		No	ClinGen ExAC gnomAD
rs780257557 CA7615289	861	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	862	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746197365 CA7615287	862	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs267604289 CA271505271	863	D>N		No	ClinGen ExAC TOPMed gnomAD
rs267604289 CA7615285	863	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs752308827 CA7615284	864	H>R		No	ClinGen ExAC
CA271505270 rs367606190	864	H>Y		No	ClinGen ESP TOPMed
CA392856102 rs1342450658	867	P>S		No	ClinGen TOPMed gnomAD
CA271505247 rs375462577	868	R>Q		No	ClinGen ESP TOPMed gnomAD
COSM964024 CA271505254 rs1041653391	868	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA392856063 rs1309758004	869	V>A		No	ClinGen gnomAD
rs758306911 CA271505241	869	V>F		No	ClinGen TOPMed
rs1391835461 CA392856053	870	K>E		No	ClinGen gnomAD
rs751182101 CA392856020	871	K>N		No	ClinGen ExAC gnomAD
rs754439963 CA7615282	871	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs766004466 CA7615280	872	T>R		No	ClinGen ExAC TOPMed gnomAD
rs750186409 CA7615278	878	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7615279 rs149553691	878	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs138340018 CA7615277	879	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1481730852 CA392855761	882	R>K		No	ClinGen TOPMed
CA7615275 rs150477839	883	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764086861 CA392855702	884	N>I		No	ClinGen ExAC TOPMed gnomAD
rs764086861 CA7615274	884	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1266801781 CA392855653	886	A>P		No	ClinGen gnomAD
rs775599324 CA7615272	887	E>K		No	ClinGen ExAC gnomAD
rs772300318 CA7615271	891	G>A		No	ClinGen ExAC gnomAD
rs1346046399 CA392855493	891	G>R		No	ClinGen TOPMed
rs1452097215 CA392855414	894	Y>C		No	ClinGen gnomAD
CA7615268 rs774837247	894	Y>H		No	ClinGen ExAC gnomAD
CA7615267 rs771628304 VAR_022772	895	A>V		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA392855369 rs1330398438	897	E>K		No	ClinGen gnomAD
CA7615266 rs764708391	899	L>F		No	ClinGen ExAC gnomAD
CA392855323 rs1387976577	899	L>P		No	ClinGen gnomAD
CA392855313 rs141790957	900	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392855301 rs754465145	900	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7615264 rs754465145	900	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA392855289 rs1283861872	901	A>S		No	ClinGen TOPMed
rs746485644 CA7615263	901	A>V		No	ClinGen ExAC gnomAD
rs1160617630 CA392855275	902	C>R		No	ClinGen gnomAD
rs779610888 CA7615262	905	A>T		No	ClinGen ExAC gnomAD
rs1196905483 CA392855171	905	A>V		No	ClinGen gnomAD
CA7615261 rs758045601	906	P>R		No	ClinGen ExAC gnomAD
rs750276212 CA7615260	907	P>S		No	ClinGen ExAC gnomAD
rs1308629949 CA392855109	908	S>R		No	ClinGen TOPMed
CA392855104 rs1208345676	909	A>T		No	ClinGen TOPMed gnomAD
CA7615259 rs765011243	910	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760774918 CA392855006	913	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7615255 rs760774918	913	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1172274 CA7615256 rs139235879	913	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	914	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7615254 rs34908405	915	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1268806562 CA392854931	917	I>L		No	ClinGen TOPMed
CA7615253 rs767443033	917	I>T		No	ClinGen ExAC gnomAD
CA7615252 rs759697816	918	E>K		No	ClinGen ExAC gnomAD
rs1390326174 CA392854863	919	G>R		No	ClinGen gnomAD
CA7615250 rs771555017	920	D>G		No	ClinGen ExAC TOPMed gnomAD
rs866494273 CA271505071	920	D>N		No	ClinGen gnomAD
rs866494273 CA392854842	920	D>Y		No	ClinGen gnomAD
rs201786565 CA7615249 COSM964023	921	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM964022 CA7615248 rs773420991	921	R>Q	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs534033118 CA7615246	922	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1244027148 CA392854705	924	Y>C		No	ClinGen gnomAD
CA392854719 rs1447941038	924	Y>H		No	ClinGen gnomAD
TCGA novel	924	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371148466 CA7615242	925	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371148466 CA7615243	925	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs778452259 CA7615241	929	F>Y		No	ClinGen ExAC gnomAD
rs941338836 CA271505041	930	N>I		No	ClinGen TOPMed gnomAD
TCGA novel	930	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271505014 rs780209937	931	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7615239 rs753812699	934	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7615238 rs777389416	936	S>N		No	ClinGen ExAC gnomAD
CA271504992 rs1055174406	936	S>R		No	ClinGen TOPMed
rs755956176 CA392854446	937	W>*		No	ClinGen ExAC gnomAD
rs755956176 CA7615237 COSM700690	937	W>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392854400 rs1363691307	940	D>N		No	ClinGen gnomAD
CA7615235 rs370254537	941	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615236 rs752800287	941	Y>H		No	ClinGen ExAC gnomAD
CA7615232 rs766609086	944	W>R		No	ClinGen ExAC gnomAD
rs867559583 CA271504958	945	W>*		No	ClinGen Ensembl
rs763516453 CA7615231	945	W>R		No	ClinGen ExAC gnomAD
CA392854287 rs1427896515	946	P>L		No	ClinGen gnomAD
CA392854293 rs1433126495	946	P>T		No	ClinGen TOPMed
rs762243856 CA7615228	948	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762243856 CA7615229	948	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs377336076 CA7615230	948	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771698636 CA7615226	949	M>T		No	ClinGen ExAC gnomAD
rs1485987629 CA392854119	953	A>P		No	ClinGen gnomAD
CA392854121 rs1485987629	953	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778362259 CA7615223	955	Y>C		No	ClinGen ExAC gnomAD
CA392854062 rs778362259	955	Y>F		No	ClinGen ExAC gnomAD
CA7615222 rs770457575	957	K>N		No	ClinGen ExAC gnomAD
rs1353756429 CA392853956	960	I>L		No	ClinGen gnomAD
CA7615221 rs144790648	960	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777776022 CA7615220	961	V>M		No	ClinGen ExAC TOPMed gnomAD
rs752528671 CA7615218	962	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7615219 rs755794574	962	G>R		No	ClinGen ExAC gnomAD
CA7615216 rs755224607	963	P>L		No	ClinGen ExAC
rs1566992576 CA392853865	965	E>G		No	ClinGen Ensembl
rs1171178854 CA392853857	966	V>L		No	ClinGen gnomAD
CA392853815 rs1415929792	968	V>A		No	ClinGen gnomAD
COSM3690494 rs150946463 CA7615214	969	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs763140331 CA392853804	969	R>L		No	ClinGen ExAC gnomAD
CA7615213 rs763140331	969	R>Q		No	ClinGen ExAC gnomAD
rs369696446 CA7615212	971	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7615211 rs765770685	971	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765770685 CA392853784	971	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375320311 CA7615209	973	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615210 rs762283998	973	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7615208 rs769047039	974	G>E		No	ClinGen ExAC gnomAD
rs1220154117 CA392853740	974	G>W		No	ClinGen gnomAD
rs774012195 CA7615207	975	G>D		No	ClinGen ExAC gnomAD
rs757160279 CA271504848	975	G>R		No	ClinGen TOPMed gnomAD
rs774012195 CA7615206	975	G>V		No	ClinGen ExAC gnomAD
COSM1374085 rs373252930 CA7615204	978	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7615205 rs770367551	978	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7615203 rs777211471	979	Q>*		No	ClinGen ExAC gnomAD
rs2679117 CA392853656	979	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392853660 rs2679117	979	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2679117 CA7615202 VAR_022773	979	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392853613 rs1410966867	982	G>V		No	ClinGen gnomAD
CA392853589 rs1156603288	983	K>N		No	ClinGen gnomAD
CA392853597 rs1476441797	983	K>R		No	ClinGen TOPMed
CA392853580 rs1188131778	984	L>P		No	ClinGen TOPMed
CA7615199 rs781096900	987	I>T		No	ClinGen ExAC gnomAD
rs559616243 CA7615198	988	R>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	988	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747172066 CA7615197	988	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369015415 CA7615196	989	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374644355 CA271504799	991	R>K		No	ClinGen ESP
rs1267920625 CA392853451	993	T>P		No	ClinGen gnomAD
rs143163077 CA7615193	994	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7615194 rs750503262	994	R>W		No	ClinGen ExAC gnomAD
CA7615192 rs572631157	995	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs754332108 CA7615191	997	D>N		No	ClinGen ExAC TOPMed gnomAD
rs998424675 CA271504772	997	D>V		No	ClinGen TOPMed gnomAD
CA7615189 rs145652225	998	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	998	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316270984 CA392853387	999	P>S		No	ClinGen gnomAD
rs766007600 CA7615187	1001	V>D		No	ClinGen ExAC gnomAD
CA271504741 rs370825354	1003	A>D		No	ClinGen Ensembl
rs1452426364 CA392853337	1004	A>D		No	ClinGen TOPMed gnomAD
CA271504727 rs770133434	1004	A>T		No	ClinGen Ensembl
rs1452426364 CA392853333	1004	A>V		No	ClinGen TOPMed gnomAD
CA271504718 rs964556569	1005	C>R		No	ClinGen Ensembl
rs911427610 CA271504712	1009	K>T		No	ClinGen TOPMed gnomAD
rs748073724 CA7615183	1011	S>N		No	ClinGen ExAC gnomAD
CA7615182 rs139939938	1012	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392853234 rs1216618825	1013	M>I		No	ClinGen TOPMed
rs1005966594 CA271504694	1013	M>R		No	ClinGen TOPMed
rs746797869 CA7615180	1014	L>R		No	ClinGen ExAC TOPMed gnomAD
CA7615178 rs746115327	1015	Y>*		No	ClinGen ExAC gnomAD
rs201296736 CA7615179	1015	Y>C		No	ClinGen ExAC gnomAD
CA392853164 rs1346298877	1018	D>E		No	ClinGen gnomAD
CA7615176 rs146484784	1019	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615175 rs146484784	1019	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754282225 CA7615174	1019	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1387019454 CA392853138	1021	D>G		No	ClinGen gnomAD
CA7615172 rs756677093	1022	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756677093 CA392853131	1022	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200825053 COSM1129151 CA7615171	1022	R>H	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200825053 CA7615170	1022	R>L		No	ClinGen ExAC TOPMed gnomAD
CA392853123 rs1362405184	1023	T>A		No	ClinGen gnomAD
rs377371929 CA271504656	1023	T>I		No	ClinGen Ensembl
rs1362405184 CA392853124	1023	T>P		No	ClinGen gnomAD
rs762630191 CA7615169	1027	V>G		No	ClinGen ExAC TOPMed
CA392853088 rs1302002344	1027	V>I		No	ClinGen gnomAD
rs761235371 CA7615166	1029	P>L		No	ClinGen ExAC gnomAD
rs764748502 CA7615167	1029	P>T		No	ClinGen ExAC gnomAD
CA392853054 rs1371045170	1030	Q>*		No	ClinGen gnomAD
CA392853045 rs1566992393	1030	Q>H		No	ClinGen Ensembl
rs1172110503 CA392853051	1030	Q>R		No	ClinGen gnomAD
rs1428678846 COSM1678536 CA392853035	1031	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
VAR_069431 CA7615164 rs768702821	1032	S>T		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA7615163 COSM964018 rs746992209	1034	R>C	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs144076381 COSM1201211 CA7615162	1034	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7615161 COSM964017 rs771794833	1035	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs905659869 CA271504608	1035	R>Q		No	ClinGen TOPMed gnomAD
CA7615160 rs746051853	1037	S>G		No	ClinGen ExAC gnomAD
CA7615159 rs779015022	1037	S>I		No	ClinGen ExAC TOPMed gnomAD
rs779015022 CA392852978	1037	S>N		No	ClinGen ExAC TOPMed gnomAD
rs779015022 CA392852977	1037	S>T		No	ClinGen ExAC TOPMed gnomAD
rs886203317 CA271504584	1041	M>I		No	ClinGen Ensembl
rs1361612598 CA392852932	1041	M>T		No	ClinGen TOPMed gnomAD
rs935701188 CA392852895	1044	E>D		No	ClinGen TOPMed gnomAD
CA7615157 rs749362765	1045	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1047	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313402606 CA392852823	1051	P>S		No	ClinGen TOPMed gnomAD
rs777884999 CA7615156	1052	L>P		No	ClinGen ExAC gnomAD
rs756587268 CA7615155	1053	A>T		No	ClinGen ExAC gnomAD
CA392852794 rs1169088323	1054	V>D		No	ClinGen gnomAD
rs140085942 CA7615154	1056	N>D		No	ClinGen ESP ExAC gnomAD
rs755314183 CA7615152	1057	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1420393856 CA392852692	1063	M>T		No	ClinGen gnomAD
rs1566992319 CA392852674	1065	A>V		No	ClinGen Ensembl
rs1437710076 CA392852665	1066	P>S		No	ClinGen gnomAD
CA392852640 rs1566992306	1068	D>E		No	ClinGen Ensembl
rs753375748 CA7615148	1068	D>G		No	ClinGen ExAC gnomAD
CA7615149 rs761617904	1068	D>H		No	ClinGen ExAC gnomAD
rs1231297065 CA392852631	1069	P>L		No	ClinGen gnomAD
CA392852634 rs1231297065 COSM160006	1069	P>Q	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1336676063 CA392852578	1074	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs546229537 CA7615146	1075	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA271504540 rs930294508	1075	G>R		No	ClinGen Ensembl
CA392852564 rs1227727673	1076	I>V		No	ClinGen gnomAD
rs898869921 CA271504518	1077	Y>*		No	ClinGen gnomAD
CA271504523 rs141854917	1077	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs141854917 CA7615145	1077	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615142 rs200273920	1080	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1406537938 CA392852453	1081	D>G		No	ClinGen TOPMed
rs1595955150 CA392852400	1083	D>A		No	ClinGen Ensembl
rs774266431 CA7615141	1083	D>H		No	ClinGen ExAC gnomAD
rs922329146 CA271504504	1084	P>R		No	ClinGen TOPMed
CA7615140 rs368226963	1084	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7615139 rs749557071	1085	R>C		No	ClinGen ExAC TOPMed gnomAD
rs554082158 CA7615138	1085	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs370591444 CA7615136	1086	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427274000 CA392852311	1088	K>N		No	ClinGen gnomAD
rs1469948938 CA392852300	1089	E>*		No	ClinGen gnomAD
CA7615133 rs201603047	1090	I>V		No	ClinGen 1000Genomes ExAC
rs554355799 CA7615131	1091	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375005576 CA7615130	1091	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615128 rs760272684	1092	L>I		No	ClinGen ExAC gnomAD
CA7615125 rs147157157	1093	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7615123 rs60274093	1094	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139302166 CA7615124	1094	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA392852181 rs1439360326	1095	C>R		No	ClinGen TOPMed
CA7615120 rs769801479	1097	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7615121 rs773440429	1097	D>H		No	ClinGen ExAC TOPMed
TCGA novel	1097	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_022774 rs769023414 CA7615117	1101	D>N		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA7615116 rs143954511	1102	G>A		No	ClinGen ESP ExAC
CA392851983 rs1191780395	1104	S>F		No	ClinGen gnomAD
rs780242747 CA7615115	1104	S>P		No	ClinGen ExAC gnomAD
COSM964015 CA7615114 rs566324831	1107	M>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1595955059 CA392851950	1107	M>V		No	ClinGen Ensembl
CA392851938 rs1253856578	1108	K>E		No	ClinGen gnomAD
rs1014030328 CA392851893	1109	S>I		No	ClinGen TOPMed gnomAD
rs1014030328 CA271504450	1109	S>N		No	ClinGen TOPMed gnomAD
CA392851921 rs1192290228	1109	S>R		No	ClinGen gnomAD
rs1286018465 CA392851889	1109	S>R		No	ClinGen TOPMed gnomAD
CA271504441 rs747201105	1110	N>K		No	ClinGen ExAC gnomAD
CA7615113 rs137992673	1110	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201712384 CA7615110	1112	G>R		No	ClinGen ExAC TOPMed gnomAD
CA271504437 rs779758505	1113	V>A		No	ClinGen TOPMed
rs767099048 CA7615108	1114	A>G		No	ClinGen ExAC TOPMed gnomAD
CA271504432 rs61735530	1114	A>S		No	ClinGen Ensembl
CA392851820 rs61735530	1114	A>T		No	ClinGen Ensembl
rs1428132940 CA392851780	1116	T>I		No	ClinGen gnomAD
CA7615104 rs766109430	1122	R>K		No	ClinGen ExAC gnomAD
rs1002727590 CA271504410	1123	Q>E		No	ClinGen TOPMed gnomAD
CA392851660 rs1171900307	1123	Q>H		No	ClinGen gnomAD
CA7615102 rs773061589	1126	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1162243 CA7615101 rs201994328	1126	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1474523268 CA392851633	1128	S>C		No	ClinGen gnomAD
TCGA novel	1132	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150317612 CA7615100	1132	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392851583 rs150317612	1132	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392851489 rs1407608887	1137	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA392851442 rs1346888442	1140	S>T		No	ClinGen gnomAD
CA392851414 rs1212481939	1142	A>T		No	ClinGen gnomAD
CA7615098 rs375433303	1143	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA271504400 rs113897617	1143	A>V		No	ClinGen TOPMed gnomAD
rs1212463053 CA392851380	1144	G>D		No	ClinGen gnomAD
rs747424796 CA7615097	1144	G>S		No	ClinGen ExAC
rs772495859 CA7615095	1146	V>I		No	ClinGen ExAC gnomAD
CA7615093 rs779474966	1148	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1355461771 CA392851319	1148	G>R		No	ClinGen gnomAD
rs1417103534 CA392851302	1149	R>T		No	ClinGen TOPMed gnomAD
rs1038698762 CA271504383	1151	P>R		No	ClinGen TOPMed
CA7615092 rs747871021	1151	P>S		No	ClinGen ExAC gnomAD
rs747871021 CA7615091	1151	P>T		No	ClinGen ExAC gnomAD
rs754533589 CA7615089	1152	S>L		No	ClinGen ExAC TOPMed gnomAD
rs754533589 CA7615090	1152	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1168341261 CA392851255	1153	R>K		No	ClinGen gnomAD
CA7615087 rs766302312	1154	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7615086 rs758391905	1155	Q>*		No	ClinGen ExAC gnomAD
CA392851222 rs1394397568	1156	Q>R		No	ClinGen TOPMed
CA392851214 rs1189996445	1157	R>*		No	ClinGen gnomAD
rs750198599 CA7615085	1157	R>Q		No	ClinGen ExAC gnomAD
rs151140297 CA7615083	1158	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs151140297 COSM4128348 CA7615084	1158	A>V	thyroid [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM700693 rs776934891 CA7615082	1159	S>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA392850422 rs1273248594	1160	R>K		No	ClinGen gnomAD
rs764021753 CA7615081	1160	R>S		No	ClinGen ExAC gnomAD
CA392850413 rs1334631042	1161	G>D		No	ClinGen TOPMed gnomAD
rs1334631042 CA392850409	1161	G>V		No	ClinGen TOPMed gnomAD
rs370842271 CA7615080	1162	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380490931 CA392850386	1163	Q>R		No	ClinGen gnomAD
CA7615079 rs772689886 COSM193848	1164	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs772689886 CA392850375	1164	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7615077 rs377269093	1164	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs772689886 CA7615078	1164	R>S		No	ClinGen ExAC TOPMed gnomAD
rs938952 CA392850345	1166	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271504344 rs60240130	1166	G>D		No	ClinGen Ensembl
rs938952 CA392850346	1166	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs938952 VAR_022775 CA7615075	1166	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747702148 VAR_022776 CA7615074	1168	V>A		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs372872912 CA392850321	1168	V>L		No	ClinGen ESP TOPMed gnomAD
CA271504338 COSM84291 rs372872912	1168	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA392850301 rs1475516496	1170	A>P		No	ClinGen TOPMed gnomAD
CA392850243 rs1470883895	1176	R>G		No	ClinGen gnomAD
rs1269810875 CA392850227	1177	V>A		No	ClinGen TOPMed gnomAD
CA7615072 rs375943038	1178	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271708261 CA392850167	1182	L>P		No	ClinGen TOPMed gnomAD

1 associated diseases with O75339

[MIM: 603932]: Intervertebral disc disease (IDD)

A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269|PubMed:15864306}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269|PubMed:15864306}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

3 regional properties for O75339

Type	Name	Position	InterPro Accession
domain	FKBP-type peptidyl-prolyl cis-trans isomerase domain	165 - 270	IPR001179
domain	Trigger factor, C-terminal	270 - 425	IPR008880
domain	Trigger factor, ribosome-binding, bacterial	1 - 149	IPR008881

Functions

		Description
EC Number
Subcellular Localization	Secreted, extracellular space, extracellular matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
negative regulation of gene expression	Any process that decreases 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).
negative regulation of insulin-like growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of insulin-like growth factor receptor signaling.
negative regulation of SMAD protein signal transduction	Any process that decreases the rate, frequency or extent of the SMAD protein signaling pathway. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MVGTKAWVFS	FLVLEVTSVL	GRQTMLTQSV	RRVQPGKKNP	SIFAKPADTL	ESPGEWTTWF
70	80	90	100	110	120
NIDYPGGKGD	YERLDAIRFY	YGDRVCARPL	RLEARTTDWT	PAGSTGQVVH	GSPREGFWCL
130	140	150	160	170	180
NREQRPGQNC	SNYTVRFLCP	PGSLRRDTER	IWSPWSPWSK	CSAACGQTGV	QTRTRICLAE
190	200	210	220	230	240
MVSLCSEASE	EGQHCMGQDC	TACDLTCPMG	QVNADCDACM	CQDFMLHGAV	SLPGGAPASG
250	260	270	280	290	300
AAIYLLTKTP	KLLTQTDSDG	RFRIPGLCPD	GKSILKITKV	KFAPIVLTMP	KTSLKAATIK
310	320	330	340	350	360
AEFVRAETPY	MVMNPETKAR	RAGQSVSLCC	KATGKPRPDK	YFWYHNDTLL	DPSLYKHESK
370	380	390	400	410	420
LVLRKLQQHQ	AGEYFCKAQS	DAGAVKSKVA	QLIVIASDET	PCNPVPESYL	IRLPHDCFQN
430	440	450	460	470	480
ATNSFYYDVG	RCPVKTCAGQ	QDNGIRCRDA	VQNCCGISKT	EEREIQCSGY	TLPTKVAKEC
490	500	510	520	530	540
SCQRCTETRS	IVRGRVSAAD	NGEPMRFGHV	YMGNSRVSMT	GYKGTFTLHV	PQDTERLVLT
550	560	570	580	590	600
FVDRLQKFVN	TTKVLPFNKK	GSAVFHEIKM	LRRKKPITLE	AMETNIIPLG	EVVGEDPMAE
610	620	630	640	650	660
LEIPSRSFYR	QNGEPYIGKV	KASVTFLDPR	NISTATAAQT	DLNFINDEGD	TFPLRTYGMF
670	680	690	700	710	720
SVDFRDEVTS	EPLNAGKVKV	HLDSTQVKMP	EHISTVKLWS	LNPDTGLWEE	EGDFKFENQR
730	740	750	760	770	780
RNKREDRTFL	VGNLEIRERR	LFNLDVPESR	RCFVKVRAYR	SERFLPSEQI	QGVVISVINL
790	800	810	820	830	840
EPRTGFLSNP	RAWGRFDSVI	TGPNGACVPA	FCDDQSPDAY	SAYVLASLAG	EELQAVESSP
850	860	870	880	890	900
KFNPNAIGVP	QPYLNKLNYR	RTDHEDPRVK	KTAFQISMAK	PRPNSAEESN	GPIYAFENLR
910	920	930	940	950	960
ACEEAPPSAA	HFRFYQIEGD	RYDYNTVPFN	EDDPMSWTED	YLAWWPKPME	FRACYIKVKI
970	980	990	1000	1010	1020
VGPLEVNVRS	RNMGGTHRQT	VGKLYGIRDV	RSTRDRDQPN	VSAACLEFKC	SGMLYDQDRV
1030	1040	1050	1060	1070	1080
DRTLVKVIPQ	GSCRRASVNP	MLHEYLVNHL	PLAVNNDTSE	YTMLAPLDPL	GHNYGIYTVT
1090	1100	1110	1120	1130	1140
DQDPRTAKEI	ALGRCFDGTS	DGSSRIMKSN	VGVALTFNCV	ERQVGRQSAF	QYLQSTPAQS
1150	1160	1170	1180
PAAGTVQGRV	PSRRQQRASR	GGQRQGGVVA	SLRFPRVAQQ	PLIN