AiPD: Autoinhibited Protein Database

Q9BWV1

Gene name	BOC (UNQ604/PRO1190)
Protein name	Brother of CDO
Names	Protein BOC
Species	Homo sapiens (Human)
KEGG Pathway	hsa:91653
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

442-526 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

442-526 (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

4 structures for Q9BWV1

Entry ID	Method	Resolution	Chain	Position	Source
3N1G	X-ray	190 A	C/D	710-817	PDB
3N1M	X-ray	169 A	C	710-817	PDB
3N1P	X-ray	270 A	C	710-817	PDB
AF-Q9BWV1-F1	Predicted				AlphaFoldDB

976 variants for Q9BWV1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000627087 rs1553745274 CA353766513	556	G>E	Holoprosencephaly sequence [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2542385 COSM1417836 rs764634173	3	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2542386 COSM1246184 rs751100635	3	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA353746793 rs1401338809	5	T>M		No	ClinGen gnomAD
CA2542388 rs780752045	7	T>M		No	ClinGen ExAC TOPMed gnomAD
rs750058697 CA2542389	8	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1454184426 CA353746877	10	R>K		No	ClinGen TOPMed
CA353746896 rs1576410834	11	G>E		No	ClinGen Ensembl
CA353746930 rs1257473270	12	M>I		No	ClinGen gnomAD
rs779844944 CA2542392	14	P>S		No	ClinGen ExAC TOPMed gnomAD
rs376699112 CA2542394	16	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240418220 CA353747014	16	V>I		No	ClinGen gnomAD
rs1203544892 CA353747066	18	L>P		No	ClinGen TOPMed
rs1203544892 CA353747067	18	L>R		No	ClinGen TOPMed
CA2542398 rs771012593	19	A>S		No	ClinGen ExAC gnomAD
rs796877776 CA2542399	20	C>F		No	ClinGen TOPMed gnomAD
rs796877776 CA353747096	20	C>S		No	ClinGen TOPMed gnomAD
rs796877776 CA2542400	20	C>Y		No	ClinGen TOPMed gnomAD
CA353747128 rs1576411017	21	L>P		No	ClinGen Ensembl
rs1361132225 CA353747134	22	L>V		No	ClinGen gnomAD
CA353747209 rs1370114839	24	A>V		No	ClinGen TOPMed
rs1295868402 CA353747222	25	T>I		No	ClinGen gnomAD
CA353747253 rs1432624341	26	A>G		No	ClinGen TOPMed
rs1326875138 CA353747277	27	G>D		No	ClinGen TOPMed
CA2542407 rs764759087	32	L>F		No	ClinGen ExAC gnomAD
rs763410019 CA2542406	32	L>W		No	ClinGen ExAC gnomAD
rs762401448	33	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs140351422 COSM84814 CA2542429	34	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2542430 rs772782131	36	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2542431 rs760173507	39	T>A		No	ClinGen ExAC gnomAD
CA353747649 rs542911830	40	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542433 rs542911830	40	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA81528237 rs563701402	41	Q>*		No	ClinGen Ensembl
CA353747689 rs1401962620	42	P>A		No	ClinGen gnomAD
rs1327230581 CA353747710	43	A>S		No	ClinGen gnomAD
COSM201658 CA2542435 rs34208374	43	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA353747729 rs1559840659	44	S>F		No	ClinGen Ensembl
rs758364337 CA2542437	45	T>I		No	ClinGen ExAC gnomAD
COSM1728577 CA2542439 rs746007747	46	V>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756244295 CA2542440	48	K>N		No	ClinGen ExAC gnomAD
CA353747852 rs1249544308	50	G>A		No	ClinGen gnomAD
CA2542444 rs774789010 COSM69837	50	G>R	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1443003224 COSM1484449 CA353747868	51	G>D	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2542446 rs772700619	56	G>D		No	ClinGen ExAC gnomAD
CA81528335 rs200929502	56	G>R		No	ClinGen Ensembl
rs760226550 CA2542448	58	V>A		No	ClinGen ExAC gnomAD
COSM1417839 rs926466843 CA81528346	58	V>M	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2542449 rs765905293	59	V>M		No	ClinGen ExAC TOPMed gnomAD
CA353748101 rs1166574448	61	P>A		No	ClinGen gnomAD
rs149108723 CA353748134	62	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542450 rs149108723	62	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542451 rs759200638	63	R>K		No	ClinGen ExAC gnomAD
CA353748201 rs1369768553	65	N>S		No	ClinGen gnomAD
CA81528411 rs143043544	67	T>I		No	ClinGen ESP
COSM1246182 CA2542452 rs183928897	69	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2542453 rs565408329	69	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA353748318 rs565408329	69	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs377137997 CA2542456	71	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542455 rs377137997	71	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs757216674 CA2542457	73	K>E		No	ClinGen ExAC gnomAD
CA81528447 rs1016044845	73	K>R		No	ClinGen gnomAD
CA353748404 rs1345468976	77	G>S		No	ClinGen gnomAD
rs532665968 CA353748420	78	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542459 rs532665968	78	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542458 rs780301436	78	S>P		No	ClinGen ExAC gnomAD
CA353748637 rs1559841171	79	D>G		No	ClinGen Ensembl
rs1559841171 CA353748638	79	D>V		No	ClinGen Ensembl
rs755231454 CA2542460	80	D>Y		No	ClinGen ExAC gnomAD
CA353748665 rs1336503134	81	A>V		No	ClinGen TOPMed
CA353748679 rs1576413747	83	G>D		No	ClinGen Ensembl
CA353748678 rs1426434613	83	G>S		No	ClinGen gnomAD
CA353748697 rs1192028182	85	L>F		No	ClinGen gnomAD
CA353748716 rs1576413779	87	T>P		No	ClinGen Ensembl
rs778996570 CA2542461	88	H>D		No	ClinGen ExAC TOPMed gnomAD
rs778996570 CA353748723	88	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs368721130 CA2542463	89	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542466 rs551152491 COSM201660	92	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2542465 rs551152491	92	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542467 rs757537359	93	I>V		No	ClinGen ExAC gnomAD
CA353748783 rs1295155905	94	T>P		No	ClinGen gnomAD
rs769550291 CA81528543	95	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769550291 CA2542469	95	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2542471 rs148190244	98	N>H		No	ClinGen ESP ExAC TOPMed
rs763823364 CA2542472	98	N>I		No	ClinGen ExAC gnomAD
CA353748837 rs1217238094	99	H>Y		No	ClinGen TOPMed gnomAD
CA353748852 rs1203983380	101	V>A		No	ClinGen gnomAD
CA2542474 rs142679662	103	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA81528563 rs934615287	103	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1159803035 CA353748924	108	A>D		No	ClinGen TOPMed gnomAD
rs137964032 CA353748929	109	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs137964032 CA2542477	109	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371553851 CA2542476	109	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
COSM396003 rs1288331511 CA353748980	112	A>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	114	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs536540046 CA81528592	114	A>S		No	ClinGen 1000Genomes gnomAD
rs536540046 CA353748998	114	A>T		No	ClinGen 1000Genomes gnomAD
rs1321357191 CA353749029	116	A>V		No	ClinGen TOPMed
rs752830834 CA2542479	117	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1576414246 CA353749073	118	V>G		No	ClinGen Ensembl
CA2542481 COSM3391964 rs545953159	118	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA81528639 rs143221773	121	T>A		No	ClinGen ESP TOPMed gnomAD
TCGA novel	123	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353749228 rs1489298272	125	A>V		No	ClinGen gnomAD
rs956641269 CA81543051	127	L>F		No	ClinGen TOPMed
CA2542526 rs150875611	128	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA353752373 rs150875611	128	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA353752380 rs1280177427	129	D>N		No	ClinGen gnomAD
rs754513508 CA2542527	133	D>N		No	ClinGen ExAC gnomAD
rs747833809 CA2542529	136	H>N		No	ClinGen ExAC TOPMed gnomAD
rs747833809 CA353752473	136	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA353752482 rs568090998	137	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542531 rs568090998	137	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA81543137 rs968560320	142	E>A		No	ClinGen TOPMed
rs776612516 CA2542534	144	N>H		No	ClinGen ExAC gnomAD
rs926737355 CA81543162	147	V>I		No	ClinGen TOPMed
CA2542535 rs139434929	149	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	150	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81543186 rs963728246	151	H>Q		No	ClinGen TOPMed gnomAD
rs1164398346 CA353752636	151	H>R		No	ClinGen gnomAD
rs764194288 CA2542536	151	H>Y		No	ClinGen ExAC gnomAD
rs1333599020 CA353752657	153	P>L		No	ClinGen TOPMed
CA2542538 rs762031504	154	E>D		No	ClinGen ExAC TOPMed gnomAD
rs767656035 CA2542539	156	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1459598451 CA353752696	158	K>N		No	ClinGen gnomAD
rs922380291 CA81543215	159	A>T		No	ClinGen TOPMed
rs1318638808 CA353752706	160	Q>R		No	ClinGen gnomAD
rs1373669657 CA353752715	161	V>A		No	ClinGen gnomAD
COSM1732899 rs149634735 CA2542541	162	R>Q	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2542540 rs373476923	162	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542543 rs199701156	165	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1282231646 CA353752746	166	K>T		No	ClinGen gnomAD
rs1559864008 CA353752749	167	Q>K		No	ClinGen Ensembl
CA353752752 rs1446706122	167	Q>P		No	ClinGen gnomAD
CA353752763 rs1214556782	168	E>D		No	ClinGen gnomAD
CA353752758 rs1457856366	168	E>Q		No	ClinGen TOPMed
TCGA novel	170	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353752791 rs755501555	171	E>A		No	ClinGen ExAC TOPMed gnomAD
rs755501555 CA2542544	171	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1466985696 CA353752804	172	A>G		No	ClinGen gnomAD
CA353752802 rs1466985696	172	A>V		No	ClinGen gnomAD
rs144251369 CA2542546	174	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	176	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353753470 rs1329223695	177	Y>*		No	ClinGen TOPMed gnomAD
CA353753722 rs1576469770	184	N>T		No	ClinGen Ensembl
rs1447439168 CA353753853	187	I>V		No	ClinGen TOPMed
rs1232892592 CA353754045	193	E>K		No	ClinGen gnomAD
TCGA novel	193	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769787134 CA2542571	195	E>G		No	ClinGen ExAC gnomAD
CA2542570 rs745591558	195	E>K		No	ClinGen ExAC TOPMed gnomAD
rs745591558 CA353754177	195	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	196	G>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353754241 rs1163824149	197	M>I		No	ClinGen TOPMed
rs748274543 CA2542573	197	M>T		No	ClinGen ExAC TOPMed gnomAD
CA353754219 rs1189518180	197	M>V		No	ClinGen gnomAD
rs1257946752 CA353754299 COSM3391965	199	K>R	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA353754653 rs1374386693	209	E>G		No	ClinGen gnomAD
CA2542576 rs760973966	210	V>L		No	ClinGen ExAC gnomAD
CA353754674 rs760973966	210	V>M		No	ClinGen ExAC gnomAD
rs777203851 CA2542578	212	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1576469981 CA353754809	212	T>P		No	ClinGen Ensembl
CA353754856 rs1438857931	213	S>A		No	ClinGen TOPMed
CA81545116 rs1042546413	214	G>A		No	ClinGen Ensembl
TCGA novel	214	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2542580 rs765892475	214	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM1036427 rs1395480707 CA353754951	216	S>G	Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1296606019 CA353754959	216	S>T		No	ClinGen gnomAD
CA353755019 rs1457803208	217	D>G		No	ClinGen TOPMed gnomAD
CA2542582 rs763325454	217	D>N		No	ClinGen ExAC gnomAD
rs1269365390 CA353755040	218	R>K		No	ClinGen gnomAD
CA2542583 rs763678550	218	R>S		No	ClinGen ExAC gnomAD
CA353755092 rs1227945331	219	L>P		No	ClinGen TOPMed
rs370889804 CA2542585	220	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542586 COSM1036428 rs142636875	220	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA353755119 rs142636875	220	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205162584 CA353755147	221	V>A		No	ClinGen gnomAD
CA2542588 rs577891450	222	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201064671 CA2542590	222	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577891450 CA2542589	222	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	223	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373085312 CA2542591	223	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA353755216 rs373085312	223	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA81546284 rs753765098	224	S>C		No	ClinGen Ensembl
CA2542658 rs778231332	225	T>I		No	ClinGen ExAC gnomAD
CA2542660 rs373840149	226	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2542661 rs776155134	227	E>D		No	ClinGen ExAC gnomAD
CA353756457 rs1214155095	229	A>T		No	ClinGen gnomAD
rs745518240 CA2542662 COSM201667	230	R>C	large_intestine Variant assessed as Somatic; 0.0001388 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2542664 rs548199580	230	R>H		No	ClinGen ExAC TOPMed gnomAD
rs548199580 CA2542663	230	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2542666 rs764180573	232	I>M		No	ClinGen ExAC TOPMed gnomAD
rs367568060 CA2542665	232	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353756580 rs1576474656	233	Y>S		No	ClinGen Ensembl
rs991524944 CA81546373 COSM1616730	234	P>H	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA353756609 rs1276405896	234	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs766394712 CA353756621	235	P>A		No	ClinGen ExAC gnomAD
rs370790157 CA2542671	235	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370790157 CA2542672	235	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2542670 rs766394712	235	P>T		No	ClinGen ExAC gnomAD
CA353756671 rs1380583111	236	E>D		No	ClinGen TOPMed
rs765492609 CA2542673	237	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1336842087 CA353756713	238	Q>*		No	ClinGen TOPMed gnomAD
rs1336842087 CA353756704	238	Q>K		No	ClinGen TOPMed gnomAD
CA353756732 rs1444521059	239	T>I		No	ClinGen gnomAD
CA2542677 rs778071935	240	I>F		No	ClinGen ExAC gnomAD
rs778071935 CA2542676	240	I>V		No	ClinGen ExAC gnomAD
rs550813706 CA2542678	241	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA353756835 rs3814398	241	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs550813706 CA353756814	241	I>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM304468 CA2542680 rs145019392	242	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA353756896 rs1273677231	243	T>I		No	ClinGen gnomAD
CA2542682 rs769385378	246	Q>H		No	ClinGen ExAC gnomAD
rs147843514 CA2542683	247	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA353757080 rs1475216580	249	I>T		No	ClinGen gnomAD
CA2542684 rs373889456	249	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542685 rs774242246	252	C>F		No	ClinGen ExAC TOPMed gnomAD
CA353757167 rs774242246	252	C>S		No	ClinGen ExAC TOPMed gnomAD
rs761857116 CA2542686	257	I>F		No	ClinGen ExAC gnomAD
rs1287956246 CA353757385	257	I>M		No	ClinGen gnomAD
CA2542687 rs767424071	260	P>L		No	ClinGen ExAC gnomAD
rs367927070 CA2542689	261	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542688 rs776642789	261	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	264	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353757713 rs765417141	267	D>G		No	ClinGen ExAC TOPMed gnomAD
rs765417141 CA2542690	267	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	269	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81546462 rs1040069574	269	S>P		No	ClinGen Ensembl
rs189847375 CA2542691	270	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542692 rs758565661	270	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2542694 rs751852189	271	V>A		No	ClinGen ExAC gnomAD
rs764454159 CA2542693	271	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs78290342 CA2542696	272	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78290342 RCV000920788 CA2542695	272	T>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2542698 rs755622422	273	G>S		No	ClinGen ExAC TOPMed gnomAD
rs146920642 CA2542702	277	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81546562 rs1005743546	278	R>C		No	ClinGen TOPMed gnomAD
CA2542704 rs747971884 COSM172752	278	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353757989 rs1167285121	280	L>V		No	ClinGen TOPMed gnomAD
rs760489456 CA2542707	282	S>N		No	ClinGen ExAC
rs769885168 CA2542708	283	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1003778750 CA81546634	284	L>F		No	ClinGen TOPMed gnomAD
CA353758067 rs1304636259	284	L>P		No	ClinGen gnomAD
CA353758120 rs570637037	286	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1212386918 CA353758133	287	D>G		No	ClinGen TOPMed
rs751976756 CA2542712	287	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376082614 CA2542713	288	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1445581829 CA353758706	288	T>I		No	ClinGen TOPMed gnomAD
CA2542714 rs767946148	289	T>I		No	ClinGen ExAC gnomAD
CA2542715 rs750974960	290	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2542717 rs200889045	291	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575024692 CA353758835	292	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542718 rs200467496	292	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1263338675 CA353758893	296	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353758886 rs1576475498	296	T>P		No	ClinGen Ensembl
CA2542721 rs148136058	298	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542722 rs771932279	298	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA81546748 rs148136058	298	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	299	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2542723 rs141926214	300	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353759032 rs1465565831	302	D>A		No	ClinGen gnomAD
CA353759035 CA353759036 rs1159398626	302	D>E		No	ClinGen gnomAD
CA2542726 COSM216607 rs138989977	302	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs763004347 CA2542727	304	G>E		No	ClinGen ExAC TOPMed gnomAD
CA353759066 rs1455491532	305	V>I		No	ClinGen gnomAD
CA353759094 rs1449184932	306	G>E		No	ClinGen TOPMed gnomAD
CA353759108 rs1185883445	307	Q>E		No	ClinGen gnomAD
CA2542728 rs768911726	308	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2542730 COSM4157132 rs3814400 CA2542731	309	G>R	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2542732 rs200570336	310	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761252935 CA81546805	311	A>E		No	ClinGen ExAC TOPMed gnomAD
rs761252935 CA2542733	311	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753459215 CA2542735	313	I>L		No	ClinGen ExAC gnomAD
rs753459215 CA353759327	313	I>V		No	ClinGen ExAC gnomAD
CA2542736 rs754514976	314	L>H		No	ClinGen ExAC TOPMed gnomAD
rs754514976 CA81546844	314	L>P		No	ClinGen ExAC TOPMed gnomAD
CA353759481 rs1207290380	316	N>S		No	ClinGen gnomAD
rs990010611 CA81546854	320	F>I		No	ClinGen Ensembl
rs971939301 CA81547194	321	E>V		No	ClinGen TOPMed
rs1380864431 CA353759776	322	P>A		No	ClinGen TOPMed gnomAD
CA353759778 rs1230447020	322	P>H		No	ClinGen gnomAD
rs1380864431 CA353759777 COSM39876	322	P>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA353759822 rs1229800415	323	P>R		No	ClinGen gnomAD
rs764817146 CA2542757	323	P>S		No	ClinGen ExAC TOPMed gnomAD
CA353759832 rs1482131084	324	E>A		No	ClinGen gnomAD
CA81547229 rs879025887	326	T>I		No	ClinGen Ensembl
rs554409236 CA2542761	327	M>T		No	ClinGen 1000Genomes
rs758135445 CA2542760	327	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2542763 rs763637071	328	E>Q		No	ClinGen ExAC gnomAD
CA2542764 rs751416964	328	E>V		No	ClinGen ExAC gnomAD
CA353759997 rs1479101700	331	Q>H		No	ClinGen TOPMed
CA81547244 rs201428549	333	V>A		No	ClinGen 1000Genomes
rs1378400828 CA353760075	335	P>L		No	ClinGen TOPMed
CA2542769 rs779056545	337	G>V		No	ClinGen ExAC gnomAD
rs200846716 CA2542770	341	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs199948566 CA353760292	342	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2542771 rs199948566	342	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1360608395 CA353760323	343	T>N		No	ClinGen gnomAD
CA2542772 rs150006243	344	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81547304 rs761807372	347	R>C		No	ClinGen TOPMed
rs1436220857 CA353760429	347	R>H		No	ClinGen TOPMed gnomAD
rs1436220857 CA353760452	347	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs761807372 CA81547301	347	R>S		No	ClinGen TOPMed
CA353760490 rs1576477504	349	N>T		No	ClinGen Ensembl
CA353760523 rs1340626797	350	P>A		No	ClinGen gnomAD
CA2542776 rs556070204	351	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762343234 CA2542779	354	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750517961 CA81547325	356	W>R		No	ClinGen Ensembl
CA353760730 rs1316744375	357	L>P		No	ClinGen TOPMed
rs761403195 CA2542782	358	R>G		No	ClinGen ExAC gnomAD
CA2542783 rs767316555	358	R>K		No	ClinGen ExAC
TCGA novel	360	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353760790 rs1576477689	361	V>M		No	ClinGen Ensembl
CA353760846 rs1173185745	363	L>F		No	ClinGen TOPMed
rs901153043 CA81547350	364	I>L		No	ClinGen TOPMed gnomAD
rs750153821 CA2542784	364	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1576477746 CA353760899	365	S>P		No	ClinGen Ensembl
rs148670622 CA2542785	366	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2542786 rs779844168	367	Q>L		No	ClinGen ExAC TOPMed gnomAD
COSM419451 rs142142926 CA2542787	368	R>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1458137582 CA353760993	368	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs142142926 CA353760983	368	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747247386 CA2542790	370	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2542789 rs777871713	370	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2542792 rs781732471	371	L>P		No	ClinGen ExAC gnomAD
rs998774925 CA81547393	373	R>C		No	ClinGen TOPMed gnomAD
CA353761617 rs998774925	373	R>G		No	ClinGen TOPMed gnomAD
CA2542793 rs541680773	373	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs541680773 CA2542794	373	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA81547415 rs112165738	374	R>S		No	ClinGen Ensembl
CA2542795 rs775826071	375	A>V		No	ClinGen ExAC gnomAD
CA2542797 rs768070815	377	R>C		No	ClinGen ExAC gnomAD
CA2542798 rs372345745	377	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs768070815 CA353761683	377	R>S		No	ClinGen ExAC gnomAD
rs1171267060 CA353761731	378	V>A		No	ClinGen TOPMed
CA2542801 rs560351015	378	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542800 rs560351015	378	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA353761735 rs1190098919	379	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353761736 rs1412325683	379	L>H		No	ClinGen gnomAD
CA2542802 rs527592727	381	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA81547470 rs371052682	382	G>R		No	ClinGen ESP TOPMed
TCGA novel	383	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353761863 rs369070396	384	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs369070396 CA2542803	384	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	385	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754897087 CA2542805	386	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs147853055 CA2542806	388	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2542807 rs141430227	389	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA81547497 rs757611037 CA2542808	390	Q>H		No	ClinGen ExAC gnomAD
CA353761977 rs1274334431	390	Q>K		No	ClinGen gnomAD
CA2542809 rs781542207	392	M>L		No	ClinGen ExAC TOPMed gnomAD
CA353762020 rs1253487256	392	M>T		No	ClinGen TOPMed
CA2542810 rs781542207	392	M>V		No	ClinGen ExAC TOPMed gnomAD
rs780414960 CA2542812	394	E>K		No	ClinGen ExAC TOPMed gnomAD
rs145076589 CA2542815	396	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145076589 CA2542814	396	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1449778818 CA353762121	398	G>R		No	ClinGen gnomAD
TCGA novel	399	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2542817 rs761303691	400	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2542816 rs761303691	400	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777320137 CA2542819 COSM1184813	403	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1352628635 CA353762165	404	V>I		No	ClinGen TOPMed
CA353762172 rs1576478331	405	Q>E		No	ClinGen Ensembl
rs766110759 CA2542820	405	Q>H		No	ClinGen ExAC gnomAD
CA2542822 rs566283417	407	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2542821 rs370137874	407	R>W		No	ClinGen ExAC TOPMed gnomAD
CA353762189 rs1404105295	408	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1323412428 CA353762197	409	S>F		No	ClinGen gnomAD
rs751737249 CA2542824	410	R>K		No	ClinGen ExAC gnomAD
rs866012175 CA81548453	412	S>N		No	ClinGen Ensembl
rs765304929 CA2542840	413	I>M		No	ClinGen ExAC gnomAD
rs759352827 CA2542839	413	I>T		No	ClinGen ExAC gnomAD
rs933277105 CA81548491	414	T>N		No	ClinGen Ensembl
CA2542841 rs775595950	416	R>T		No	ClinGen ExAC gnomAD
rs1273293084 CA353762373	417	L>P		No	ClinGen gnomAD
rs767715937 CA2542843	418	W>R		No	ClinGen ExAC
CA353762425 rs1486473030	419	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs570385666 CA2542844	422	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs756361725 CA2542845	424	A>D		No	ClinGen ExAC gnomAD
CA353762549 rs140794918	424	A>P		No	ClinGen ESP TOPMed gnomAD
CA81548501 rs140794918	424	A>T		No	ClinGen ESP TOPMed gnomAD
CA2542847 rs766612660	425	T>I		No	ClinGen ExAC gnomAD
CA2542846 rs766612660	425	T>S		No	ClinGen ExAC gnomAD
rs537795063 CA2542848	427	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA81548546 rs907921367	428	P>R		No	ClinGen TOPMed gnomAD
CA353762653 rs1559874287	429	P>L		No	ClinGen Ensembl
CA2542849 rs779209086	430	V>I		No	ClinGen ExAC gnomAD
CA353762685 rs1466571334	432	P>S		No	ClinGen gnomAD
CA2542850 rs150117948	435	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs149191848 CA2542853	436	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469154242 CA353762788	438	P>A		No	ClinGen gnomAD
rs1320975044 CA353762792	438	P>H		No	ClinGen gnomAD
rs770538041 CA2542854	441	M>T		No	ClinGen ExAC gnomAD
rs145086237 CA2542856	443	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs145086237 CA2542855	443	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs762985048 CA353762881	445	Q>H		No	ClinGen ExAC gnomAD
rs768713210 CA2542860	446	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2542862 rs373320440	447	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353762925 rs1356311232	449	P>L		No	ClinGen TOPMed
rs202102976 CA81548607	451	P>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA2542865 rs139036160	453	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765600285 CA2542866	453	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2542868 rs370284094	454	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs374255523 CA2542870	460	P>L	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2542873 rs557246506	461	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780059699 CA2542875	463	P>L		No	ClinGen ExAC gnomAD
CA81548750 rs368572164	464	G>A		No	ClinGen TOPMed gnomAD
rs1335821269 CA353763102	464	G>R		No	ClinGen TOPMed
rs557600215 CA2542876	465	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2542877 rs768528474	467	G>A		No	ClinGen ExAC gnomAD
CA81548778 rs1004666528	468	Q>R		No	ClinGen Ensembl
rs774317368 CA2542879	469	G>E		No	ClinGen ExAC gnomAD
rs774317368 CA2542878	469	G>V		No	ClinGen ExAC gnomAD
CA2542882 rs575931318	470	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2542881 rs575931318	470	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2542884 rs753107900	471	P>S		No	ClinGen ExAC TOPMed gnomAD
rs543759923 CA353763201	472	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543759923 CA353763204	472	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2542886 rs543759923 COSM1184816	472	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA353763223 rs1329158939	473	E>D		No	ClinGen TOPMed
COSM3118655 rs377657166 CA2542887	473	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA353763240 rs1414431275	474	A>V		No	ClinGen TOPMed gnomAD
rs1158081445 CA353763277	476	I>S		No	ClinGen gnomAD
CA353763285 rs1369051134	477	I>V		No	ClinGen gnomAD
CA353763348 rs1559875023	480	S>L		No	ClinGen Ensembl
rs1409700942 CA353763356	481	P>S		No	ClinGen TOPMed
rs138233485 CA2542891	482	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138233485 CA81548849	482	R>G		No	ClinGen ExAC TOPMed gnomAD
rs769031341 CA2542892	482	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1309513979 CA353763395	483	T>I		No	ClinGen gnomAD
rs200293812 CA81548903	486	T>A		No	ClinGen 1000Genomes
rs1348215970 CA353763459	487	D>G		No	ClinGen gnomAD
CA353763487 rs1438479828	489	Y>C		No	ClinGen TOPMed
rs141826592 CA81548920	490	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141826592 CA2542895	490	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353763532 rs1322639864	491	L>V		No	ClinGen gnomAD
rs1290172329 CA353763546	492	V>A		No	ClinGen TOPMed gnomAD
rs1247657099 CA353763538	492	V>M		No	ClinGen gnomAD
TCGA novel	493	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748131168 CA2542897	494	R>Q		No	ClinGen ExAC gnomAD
rs150642347 CA2542896	494	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776760776 CA2542899	495	P>R		No	ClinGen ExAC gnomAD
rs770042178 COSM1036431 CA2542901	496	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2542900 rs146449225	496	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2542904 rs368177037	498	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542903 rs539669330	498	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1247236621 CA353763670	499	G>A		No	ClinGen gnomAD
rs149730158 CA2542905	500	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542906 rs147404105	502	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542907 rs147404105	502	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1044879366 CA81548996	502	R>W		No	ClinGen gnomAD
CA2542908 rs750004969	503	A>S		No	ClinGen ExAC gnomAD
rs772475137 CA2542909	503	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA353763771 rs1313612185	505	I>T		No	ClinGen gnomAD
CA2542913 rs778774315	507	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs778774315 CA353763833	507	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs747892653 CA2542914	508	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA353763844 rs747892653	508	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA353763920 rs1204122400	510	V>L		No	ClinGen gnomAD
CA353763903 rs1204122400	510	V>M		No	ClinGen gnomAD
CA2542915 rs758407915	512	H>R		No	ClinGen ExAC gnomAD
rs1256771064 CA353763980	512	H>Y		No	ClinGen gnomAD
CA2542916 rs777654401	513	R>H		No	ClinGen ExAC TOPMed gnomAD
CA81552193 rs1044498454	515	V>I		No	ClinGen TOPMed gnomAD
CA81552210 rs1031551779	517	N>D		No	ClinGen TOPMed gnomAD
CA353765830 rs757115927	520	D>E		No	ClinGen ExAC TOPMed gnomAD
rs780171292 COSM301769 CA2542936	521	D>N	central_nervous_system Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA353765880 rs1408203253	522	W>*		No	ClinGen TOPMed
CA2542938 rs768969689	523	T>A		No	ClinGen ExAC gnomAD
CA353765923 rs1405843136	523	T>S		No	ClinGen gnomAD
rs1347523237 CA353765936	524	I>M		No	ClinGen TOPMed
CA353765929 rs1458060712	524	I>T		No	ClinGen gnomAD
CA353766049 rs1323189254	529	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs368791275 CA81552277	532	H>Y		No	ClinGen ESP
CA2542939 rs78524315 COSM3118658	533	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs149038528 CA2542941 COSM3118659	533	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs149038528 CA2542940	533	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA353766133 rs149038528	533	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371529850 CA2542942	536	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282837585 CA353766214	538	R>T		No	ClinGen gnomAD
CA81552325 rs943060767	539	L>V		No	ClinGen Ensembl
rs776265055 CA2542945	541	P>A		No	ClinGen ExAC TOPMed gnomAD
rs758935784 CA2542946	541	P>L		No	ClinGen ExAC gnomAD
rs776265055 CA353766267	541	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2542949 rs762534609	542	G>E		No	ClinGen ExAC gnomAD
CA2542948 rs752313669	542	G>R		No	ClinGen ExAC TOPMed gnomAD
CA81552372 rs752313669	542	G>W		No	ClinGen ExAC TOPMed gnomAD
CA353766300 rs1388583887	543	S>N		No	ClinGen gnomAD
CA2542951 rs751347007	543	S>R		No	ClinGen ExAC gnomAD
rs757240587 CA2542952	544	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1473152439 CA353766385	548	E>K		No	ClinGen gnomAD
CA353766409 rs1207297374	549	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs755046648 CA2542955	554	C>R		No	ClinGen ExAC gnomAD
CA81552489 rs746840045	555	A>E		No	ClinGen ExAC gnomAD
CA2542956 rs746840045	555	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353766508 rs1302827927	556	G>R		No	ClinGen gnomAD
CA81552529 rs1047685593	557	E>D		No	ClinGen Ensembl
CA2542957 rs142035783	559	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA81552536 rs887308881	560	T>P		No	ClinGen TOPMed gnomAD
CA353766566 rs887308881	560	T>S		No	ClinGen TOPMed gnomAD
rs941611661 CA81552537	561	A>S		No	ClinGen Ensembl
rs1038611376 CA81552543	566	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2542958 rs201625685	566	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201625685 CA2542959	566	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA353766649 rs1228845176	567	T>I		No	ClinGen gnomAD
rs1576495028 CA353766728	568	G>V		No	ClinGen Ensembl
CA2542970 rs188157757	569	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2542969 rs763721866 COSM1616733	569	R>W	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761563190 CA2542971	570	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA353766735 rs1437662610	570	R>W		No	ClinGen TOPMed gnomAD
CA353766755 rs1305624764	571	P>A		No	ClinGen TOPMed
CA353766798 rs1443328742	573	P>L		No	ClinGen gnomAD
CA81553025 rs368398091	574	E>K		No	ClinGen ESP TOPMed gnomAD
CA2542973 rs374987295	575	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353766878 rs1396018544	576	M>I		No	ClinGen gnomAD
CA2542975 rs778863660	577	A>D		No	ClinGen ExAC gnomAD
CA2542974 rs756021618	577	A>T		No	ClinGen ExAC gnomAD
CA353766949 rs1403546615	578	S>I		No	ClinGen gnomAD
CA353766953 rs1451841920	578	S>R		No	ClinGen gnomAD
rs758755196 CA2542977	581	Q>E		No	ClinGen ExAC gnomAD
CA353767042 rs1030406815	582	Q>H		No	ClinGen gnomAD
CA81553060 rs374703336	586	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2542979 rs747421184	586	D>N		No	ClinGen ExAC gnomAD
CA353767172 rs1249161458	587	D>E		No	ClinGen TOPMed gnomAD
CA2542981 rs781559064	587	D>N		No	ClinGen ExAC TOPMed gnomAD
CA353767247 rs1448866395	591	S>T		No	ClinGen gnomAD
rs1007067763 CA81553077	592	P>L		No	ClinGen TOPMed gnomAD
rs1372792256 CA353767286	594	S>N		No	ClinGen gnomAD
CA353767307 rs1478482862	595	S>G		No	ClinGen gnomAD
CA353767396 rs1426970100	598	P>S		No	ClinGen TOPMed gnomAD
rs1269451940 CA353767420	599	D>Y		No	ClinGen TOPMed
CA353767443 rs1321195243	600	H>P		No	ClinGen TOPMed gnomAD
CA353767445 rs1321195243	600	H>R		No	ClinGen TOPMed gnomAD
rs1469071378 CA353767440	600	H>Y		No	ClinGen gnomAD
rs1317021988 CA353767458	601	G>D		No	ClinGen gnomAD
CA2542982 rs746361972	601	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2542983 rs770329941	602	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2542984 rs774920310	602	R>H		No	ClinGen ExAC TOPMed gnomAD
CA353767624 rs1181043724	605	P>H		No	ClinGen gnomAD
COSM1417842 CA353767511 rs1269389532	605	P>S	large_intestine Variant assessed as Somatic; 6.49e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA81553459 rs934206274	608	A>P		No	ClinGen TOPMed
CA81553464 rs1052623137	609	P>L		No	ClinGen TOPMed gnomAD
CA353767732 rs1052623137	609	P>R		No	ClinGen TOPMed gnomAD
CA353767749 rs1271621294	610	D>N		No	ClinGen TOPMed
CA2543006 rs747804173	613	T>N		No	ClinGen ExAC TOPMed gnomAD
CA353767944 rs1430018889	614	I>V		No	ClinGen gnomAD
CA2543007 rs145132372	616	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	617	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766270235 CA2543010	619	E>K		No	ClinGen ExAC gnomAD
CA353768113 rs1384175664	620	T>I		No	ClinGen gnomAD
TCGA novel	622	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423723709 CA353768190	623	Y>C		No	ClinGen TOPMed gnomAD
rs1423723709 CA353768186	623	Y>F		No	ClinGen TOPMed gnomAD
COSM1184812 CA81553520 rs1035075898	624	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA2543013 rs764270507	626	W>*		No	ClinGen ExAC gnomAD
CA81553528 rs764270507	626	W>C		No	ClinGen ExAC gnomAD
COSM201671 CA2543014 rs751680270	629	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1479566153 CA353768510	631	N>S		No	ClinGen gnomAD
CA353768529 rs1256866524	632	G>S		No	ClinGen gnomAD
CA81553529 rs769615254	633	G>R		No	ClinGen Ensembl
rs775233531 CA81553534	634	F>L		No	ClinGen Ensembl
CA353768660 rs1412172628	636	I>N		No	ClinGen TOPMed
rs762582372 CA81553543	636	I>V		No	ClinGen gnomAD
CA353768703 rs1181617638	637	Q>*		No	ClinGen gnomAD
COSM1036432 CA2543016 rs767756953	640	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2543017 rs750791560	640	R>H		No	ClinGen ExAC TOPMed gnomAD
CA353768831 rs1430745939	641	V>M		No	ClinGen TOPMed
rs896417068 CA81553572	643	Y>H		No	ClinGen TOPMed
rs780350077 CA2543021	645	K>N		No	ClinGen ExAC TOPMed
TCGA novel	648	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353746334 rs1265789608	650	G>V		No	ClinGen TOPMed
CA353746365 rs1297969258	651	D>E		No	ClinGen gnomAD
CA81507847 rs80093054	651	D>G		No	ClinGen Ensembl
TCGA novel	652	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353746386 rs1207193965	653	I>L		No	ClinGen TOPMed
TCGA novel	654	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81507849 rs868657705	655	A>T		No	ClinGen Ensembl
rs1207024655 CA353746424	655	A>V		No	ClinGen TOPMed
CA81507850 rs1026150794	656	T>A		No	ClinGen TOPMed
rs140536474 CA2543025 COSM1172917	658	A>T	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2543028 rs777453049	660	P>L		No	ClinGen ExAC gnomAD
rs1161096694 CA353746473	660	P>S		No	ClinGen Ensembl
CA353746486 rs1226891958	661	P>A		No	ClinGen gnomAD
rs370057169 CA81507851	661	P>R		No	ClinGen ESP TOPMed gnomAD
COSM1417843 CA81507852 rs964039345	662	S>L	large_intestine Variant assessed as Somatic; 9.252e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2543032 rs759609900	663	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138303143 CA2543031	663	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA353746556 rs1187758333	665	S>P		No	ClinGen gnomAD
CA2543035 rs761921419	666	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2543036 rs767454918	667	E>D		No	ClinGen ExAC gnomAD
rs376888131 CA353746626	669	T>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs376888131 CA2543037	669	T>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA2543038 rs760752494	670	G>S		No	ClinGen ExAC gnomAD
rs1405981223 CA353746641	670	G>V		No	ClinGen gnomAD
CA2543039 rs766736102	672	E>K		No	ClinGen ExAC TOPMed gnomAD
rs751016189 CA2543064	674	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1400255823 CA353746911	675	T>A		No	ClinGen gnomAD
rs61735687 CA2543065	675	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367463919 CA353746936	676	S>A		No	ClinGen gnomAD
CA353746985 rs1441604396	678	K>E		No	ClinGen gnomAD
CA353746997 rs1368836942	678	K>R		No	ClinGen TOPMed
rs755066597 CA81507938	680	R>Q		No	ClinGen TOPMed gnomAD
rs148337178 CA2543067	682	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780959946 CA2543066	682	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755993716 CA2543068	683	A>S		No	ClinGen ExAC gnomAD
rs372622221 CA2543070	686	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372622221 CA2543069	686	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543072 rs773399189	689	E>K		No	ClinGen ExAC gnomAD
TCGA novel	689	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2543074 rs141457641	691	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1559883897 CA353747360	692	P>T		No	ClinGen Ensembl
CA81507952 rs778891080	693	S>R		No	ClinGen Ensembl
rs759707512 CA2543076	694	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2543077 rs139679816	694	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353747438 rs1392496182	695	P>R		No	ClinGen Ensembl
CA2543078 rs200052465	697	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2543079 rs200052465	697	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA353747472 rs1576499443	697	R>W		No	ClinGen Ensembl
rs1439635596 CA353747484	698	P>T		No	ClinGen gnomAD
CA81507962 rs987544617	699	Y>*		No	ClinGen gnomAD
rs764482115 CA2543080	700	V>M		No	ClinGen ExAC gnomAD
rs756859357 CA2543082	701	V>A		No	ClinGen ExAC
CA353747555 rs1188865658	701	V>M		No	ClinGen TOPMed
CA2543083 rs201653972	702	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143599686 CA2543085	704	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749023406 CA353747766	706	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749023406 CA2543087	706	G>S		No	ClinGen ExAC TOPMed gnomAD
rs754992516 CA2543088	707	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2543090 rs200796915	707	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754992516 CA2543089	707	R>S		No	ClinGen ExAC TOPMed gnomAD
rs374064359 CA2543092	708	V>M		No	ClinGen ExAC TOPMed gnomAD
rs746153045 CA353747870	709	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA2543096 rs373715483	710	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543095 rs200692186	710	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200692186 CA2543094	710	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1358622537 CA353747915	711	R>S		No	ClinGen TOPMed
COSM32929 VAR_035503 CA2543098 rs367589886	713	V>M	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1168917236 CA353748062	717	Y>H		No	ClinGen TOPMed
CA353748123 rs1460080460	718	I>V		No	ClinGen gnomAD
CA81507985 rs368545065	721	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA353748211 rs368545065	721	T>R		No	ClinGen ESP TOPMed gnomAD
CA2543103 rs202019169	722	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA81507989 rs929050045	723	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1576499872 CA353748282	724	V>G		No	ClinGen Ensembl
rs765926194 CA2543105	725	N>S		No	ClinGen ExAC gnomAD
CA2543106 rs753708205	727	T>N		No	ClinGen ExAC gnomAD
rs754765249 CA2543107	729	I>V		No	ClinGen ExAC gnomAD
rs983538157 CA81507995	730	M>I		No	ClinGen TOPMed
CA353748419 rs1327626376	732	K>Q		No	ClinGen gnomAD
CA2543108 rs149676396	734	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1365446876 CA353748461	735	Y>C		No	ClinGen gnomAD
CA2543131 rs756169677	736	I>N		No	ClinGen ExAC gnomAD
CA2543133 rs540214491	739	S>R		No	ClinGen ExAC TOPMed
CA353748502 rs1285469804	741	N>S		No	ClinGen TOPMed gnomAD
CA2543134 rs768916795	742	N>T		No	ClinGen ExAC TOPMed gnomAD
rs148436082 CA2543135	743	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748502858 CA2543136	744	P>A		No	ClinGen ExAC gnomAD
rs748502858 CA353748519	744	P>S		No	ClinGen ExAC gnomAD
TCGA novel	745	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81508120 rs903886174	745	I>V		No	ClinGen TOPMed
rs1308408613 CA353748542	747	G>V		No	ClinGen gnomAD
rs1338045136 CA353748560	750	I>V		No	ClinGen gnomAD
rs1000851376 CA81508124	752	Y>C		No	ClinGen TOPMed gnomAD
rs946393947 CA81508122	752	Y>H		No	ClinGen TOPMed
CA353748580 rs1475293507	753	R>*		No	ClinGen TOPMed gnomAD
CA2543137 rs772746871	753	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA353748587 rs1559885502	754	P>L		No	ClinGen Ensembl
rs773888424 CA2543138	754	P>S		No	ClinGen ExAC gnomAD
CA81508128 rs897529236	755	T>P		No	ClinGen Ensembl
TCGA novel	756	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353748603 rs1225054171	757	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767468741 CA2543169	771	D>N		No	ClinGen ExAC gnomAD
rs767468741 CA353748988	771	D>Y		No	ClinGen ExAC gnomAD
CA2543170 rs368564646	772	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA353749154 rs1204101838	775	H>R		No	ClinGen TOPMed
CA2543172 rs765360139	777	I>V		No	ClinGen ExAC gnomAD
CA2543173 rs144051849	778	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1314973648 CA353749252	778	S>N		No	ClinGen TOPMed
rs1354862624 CA353749417	785	S>A		No	ClinGen TOPMed
CA81508219 rs201443082	786	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1353423319 CA353749453	786	Y>C		No	ClinGen gnomAD
rs1412839439 CA353749492	787	D>N		No	ClinGen TOPMed
rs747389793 CA2543176	790	M>I		No	ClinGen ExAC gnomAD
CA2543178 rs781736028	793	F>V		No	ClinGen ExAC gnomAD
rs769304327 CA2543180	794	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1559886453 CA353749843	795	E>A		No	ClinGen Ensembl
CA353749931 rs1461184306	798	E>Q		No	ClinGen TOPMed
rs140667397 CA353749985	799	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2543183 rs768283886	800	E>K		No	ClinGen ExAC gnomAD
rs1166434223 CA353750020	801	F>S		No	ClinGen TOPMed
TCGA novel	802	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2543184 rs774064705	804	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771727367 CA2543186	807	C>R		No	ClinGen ExAC gnomAD
CA353750733 rs991442412	812	R>G		No	ClinGen TOPMed
rs140427394 CA2543210	812	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81508685 rs991442412	812	R>W		No	ClinGen TOPMed
rs151127560 CA2543211	818	P>A		No	ClinGen ESP ExAC TOPMed
CA2543212 rs751817973	818	P>L		No	ClinGen ExAC gnomAD
rs751817973 CA353750773	818	P>R		No	ClinGen ExAC gnomAD
CA353750774 rs1439133627	819	G>S		No	ClinGen TOPMed gnomAD
CA2543213 rs141096724 COSM1184814	820	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767990681 CA353750782	820	R>P		No	ClinGen ExAC TOPMed gnomAD
rs767990681 CA2543214	820	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750771824 CA2543215	822	P>L		No	ClinGen ExAC gnomAD
CA353750806 rs1350997097	822	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA353750829 rs1322663626	823	P>H		No	ClinGen gnomAD
TCGA novel	826	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371936128 CA2543217	827	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs150200848 RCV000956124 CA2543218	828	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA353751787 rs1299900806	829	P>Q		No	ClinGen TOPMed
rs1299900806 CA353751789	829	P>R		No	ClinGen TOPMed
CA81508696 rs935478023	829	P>T		No	ClinGen Ensembl
CA353751798 rs1341533787	830	Q>*		No	ClinGen TOPMed
rs1054354268 CA81508698	830	Q>L		No	ClinGen Ensembl
rs747844421 CA2543221	831	P>A		No	ClinGen ExAC TOPMed gnomAD
CA353751817 rs1353827828	831	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353751811 rs747844421	831	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2543223 rs777772419	835	E>A		No	ClinGen ExAC gnomAD
rs919863726 CA81508705	837	I>M		No	ClinGen TOPMed gnomAD
rs931193433 CA81508708	838	E>G		No	ClinGen TOPMed gnomAD
rs746781627 CA2543224	838	E>Q		No	ClinGen ExAC gnomAD
CA2543227 rs201334578	839	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201334578 CA2543228	839	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776727385 CA2543226 COSM1738908	839	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2543231 rs138348732 COSM1417845	840	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2543230 rs138348732	840	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2543229 rs147067616 COSM3364937	840	P>S	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA353751932 rs1466970093	841	V>G		No	ClinGen gnomAD
CA2543234 rs766681044	842	G>R		No	ClinGen ExAC gnomAD
rs373460237 CA2543235	843	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543237 rs764872369	845	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752137890 CA2543238	849	R>C		No	ClinGen ExAC gnomAD
CA2543239 rs571119647	849	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1363157059 CA353752046	850	S>C		No	ClinGen TOPMed gnomAD
CA353752043 rs1363157059	850	S>F		No	ClinGen TOPMed gnomAD
rs746607862 CA2543241	852	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA353752137 rs1192924712	853	L>Q		No	ClinGen TOPMed gnomAD
TCGA novel	854	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2543245 rs769604349	855	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA353752171 rs1333399597	855	Y>H		No	ClinGen TOPMed
rs774537520 CA2543246	856	L>V		No	ClinGen ExAC gnomAD
CA353752209 rs1424303822	857	I>M		No	ClinGen TOPMed
rs748144481 CA2543247	858	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2543248 rs748144481	858	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353752219 rs773446561 CA2543249	859	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1576511838 CA353752242	860	V>G		No	ClinGen Ensembl
CA353752232 rs1187830475	860	V>I		No	ClinGen TOPMed
CA2543253 rs148702312	861	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM201675 rs148702312 CA2543252	861	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs148702312 CA353752254	861	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752295890 CA2543255	862	L>P		No	ClinGen ExAC gnomAD
CA2543258 rs751258490	865	I>S		No	ClinGen ExAC TOPMed gnomAD
CA2543259 rs751258490	865	I>T		No	ClinGen ExAC TOPMed gnomAD
CA353752294 rs1341991596	865	I>V		No	ClinGen gnomAD
rs756116097 CA2543262	866	V>A		No	ClinGen ExAC gnomAD
CA353752308 rs550532112	866	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2543261 rs550532112	866	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1024245134 CA353752315	867	L>F		No	ClinGen Ensembl
CA81508749 rs1024245134	867	L>I		No	ClinGen Ensembl
CA2543264 rs749200746	868	I>L		No	ClinGen ExAC TOPMed gnomAD
rs749200746 CA2543265	868	I>V		No	ClinGen ExAC TOPMed gnomAD
rs116501937 CA2543267	870	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1559890427 CA353752390	871	T>I		No	ClinGen Ensembl
rs777106197 CA2543269	872	F>C		No	ClinGen ExAC gnomAD
TCGA novel	876	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168627248 CA353752487	876	C>W		No	ClinGen gnomAD
CA353752496 rs1480625722	877	L>S		No	ClinGen gnomAD
rs1408082766 CA353752584	881	W>C		No	ClinGen TOPMed
rs1559890508 CA353752599	882	S>C		No	ClinGen Ensembl
VAR_033600 CA2543272 RCV000956125 rs35536878	883	K>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	885	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353752799 rs1559891655	886	H>Y		No	ClinGen Ensembl
rs900203099 CA81508955	887	T>K		No	ClinGen TOPMed
rs1404471708 CA353752846	889	D>E		No	ClinGen TOPMed
rs1379277969 CA353752851	890	L>P		No	ClinGen gnomAD
TCGA novel	890	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760308862 CA353752855	891	G>A		No	ClinGen ExAC gnomAD
rs760308862 CA2543297	891	G>D		No	ClinGen ExAC gnomAD
rs767086270 CA2543295	891	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767086270 CA2543296	891	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1260764062 CA353752870	894	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353752872 rs192522367	894	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192522367 CA2543298	894	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1263483683 CA353752901	899	P>S		No	ClinGen gnomAD
rs938978361 CA81508963	900	S>P		No	ClinGen TOPMed
CA2543301 rs765131607	902	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2543300 rs754960188	902	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754960188 CA353752935	902	P>T		No	ClinGen ExAC gnomAD
CA2543303 rs757354595	903	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA353752993 rs1425212100	905	M>T		No	ClinGen gnomAD
rs746139797 CA2543305	905	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2543306 rs756343022	907	P>L		No	ClinGen ExAC gnomAD
TCGA novel	907	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353753020 rs1200582041	907	P>T		No	ClinGen TOPMed
rs749637146 CA353753079	910	G>A		No	ClinGen ExAC gnomAD
CA2543308 rs749637146	910	G>E		No	ClinGen ExAC gnomAD
CA2543309 rs769101420	911	L>P		No	ClinGen ExAC gnomAD
rs1330786490 CA353753101	912	P>L		No	ClinGen gnomAD
CA2543310 RCV000886124 rs3814404	912	P>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2543311 rs748607085 COSM1036438	913	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1576515175 CA353753130	914	H>P		No	ClinGen Ensembl
CA2543312 VAR_033601 rs3814405	915	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760305462 CA2543314	916	A>D		No	ClinGen ExAC
TCGA novel	919	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353753252 rs1319051776	920	P>L		No	ClinGen TOPMed
CA2543315 rs766035451	920	P>S		No	ClinGen ExAC gnomAD
CA353753255 rs1339713809	921	Y>H		No	ClinGen gnomAD
rs1219006375 CA353753322	925	I>F		No	ClinGen TOPMed gnomAD
rs781666414 CA2543318	928	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781666414 CA353753395	928	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376785831 CA2543316	928	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs371290617 CA2543320	929	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767548928 CA2543321	930	C>S		No	ClinGen ExAC gnomAD
rs998125357 CA81508989	932	N>H		No	ClinGen TOPMed
CA2543322 rs750491112	934	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1255034636 CA353753560	934	I>S		No	ClinGen TOPMed gnomAD
CA353753617 rs1194856288	936	M>V		No	ClinGen gnomAD
rs756329064 CA2543323	938	R>K		No	ClinGen ExAC gnomAD
CA2543324 rs780353671	939	G>A		No	ClinGen ExAC TOPMed gnomAD
CA353753876 rs749472368	941	P>H		No	ClinGen ExAC TOPMed gnomAD
rs749472368 CA2543325	941	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1405581582 CA353753834	941	P>T		No	ClinGen Ensembl
rs755406839 CA353753920	942	S>*		No	ClinGen ExAC TOPMed gnomAD
CA2543326 COSM3800904 rs755406839	942	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1250397597 CA353753965	943	A>G		No	ClinGen TOPMed
CA353753975 rs1401775301	944	A>T		No	ClinGen gnomAD
rs1400777064 CA353754023	945	V>M		No	ClinGen gnomAD
rs1338102608 CA353754146	948	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353754144 rs1338102608	948	P>Q		No	ClinGen TOPMed gnomAD
rs1194491850 CA353754143	948	P>T		No	ClinGen TOPMed
CA353754178 rs1293308492	949	G>S		No	ClinGen TOPMed gnomAD
CA2543330 rs373078430	950	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs746499945 CA2543331	951	K>T		No	ClinGen ExAC gnomAD
rs776292105 CA2543333	952	P>H		No	ClinGen ExAC gnomAD
CA2543332 rs770309274	952	P>T		No	ClinGen ExAC gnomAD
CA353754372 rs1576515707	953	Q>K		No	ClinGen Ensembl
CA353754392 rs376524712	953	Q>L		No	ClinGen ESP gnomAD
CA81509003 rs376524712	953	Q>R		No	ClinGen ESP gnomAD
rs1265839106 CA353754408	954	Q>*		No	ClinGen gnomAD
CA353754435 rs1336933359	954	Q>P		No	ClinGen TOPMed gnomAD
TCGA novel	956	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193644684 CA353754632	958	G>D		No	ClinGen gnomAD
CA353754630 rs1389527646	958	G>S		No	ClinGen TOPMed
rs1435355183 CA353754682	959	E>K	Variant assessed as Somatic; 4.746e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775248501 CA2543336	960	L>R		No	ClinGen ExAC gnomAD
CA2543363 rs758819163	963	Q>E		No	ClinGen ExAC gnomAD
CA353755115 CA2543364 rs777929200	964	S>R		No	ClinGen ExAC gnomAD
rs1182630781 CA353755154	965	D>E		No	ClinGen gnomAD
rs555985502 CA2543365	965	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353755170 rs1415749841	966	T>N		No	ClinGen gnomAD
rs1356784382 CA353755191	967	S>G		No	ClinGen gnomAD
CA2543367 rs780724211	970	L>P		No	ClinGen ExAC gnomAD
rs1306228519 CA353755326	972	Q>*		No	ClinGen gnomAD
CA81509064 rs374883716	972	Q>H		No	ClinGen ESP gnomAD
CA2543368 rs745363029	973	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772223496 CA81509067	975	L>P		No	ClinGen Ensembl
CA81509069 rs992792373	976	G>D		No	ClinGen TOPMed
CA2543369 rs769247206	977	N>H		No	ClinGen ExAC gnomAD
CA353755475 rs1240921007	977	N>S		No	ClinGen gnomAD
rs368020712 CA2543371	980	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259701019 CA353755542	980	D>Y		No	ClinGen TOPMed
CA81509073 rs551525789	982	Q>H		No	ClinGen gnomAD
CA2543373 rs774003670	986	I>N		No	ClinGen ExAC TOPMed gnomAD
CA353755700 rs774003670	986	I>T		No	ClinGen ExAC TOPMed gnomAD
rs928657930 CA81509075	986	I>V		No	ClinGen Ensembl
CA2543374 rs761876559	987	T>M		No	ClinGen ExAC TOPMed gnomAD
CA353755718 rs761876559	987	T>R		No	ClinGen ExAC TOPMed gnomAD
COSM1737337 CA2543390 rs778807155	989	G>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2543389 rs754581637	989	G>R		No	ClinGen ExAC gnomAD
CA2543393 rs146457578	994	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1029862359 CA81509203	994	P>L		No	ClinGen TOPMed gnomAD
CA2543392 rs146457578	994	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353756137 rs34600669	995	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353756169 rs920296187	996	E>D		No	ClinGen TOPMed gnomAD
rs369042607 CA2543397	996	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs369042607 CA2543396	996	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774586790 CA2543399	997	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764204171 CA2543398	997	G>S		No	ClinGen ExAC gnomAD
rs774586790 CA353756216	997	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1361635189 CA353756221	998	S>P		No	ClinGen gnomAD
CA2543400 rs762199459	999	F>S		No	ClinGen ExAC gnomAD
rs767805160 CA2543401	1000	L>V		No	ClinGen ExAC gnomAD
CA2543402 rs750943490	1001	Y>H		No	ClinGen ExAC TOPMed
rs756601367 CA2543403	1002	T>A		No	ClinGen ExAC gnomAD
rs747761965 CA2543409 CA353756461	1005	D>E		No	ClinGen ExAC gnomAD
CA2543407 rs369262313	1005	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543406 rs369262313	1005	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs777649609 CA2543410	1006	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2543412 rs543969242	1009	H>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1576519717 CA353756562	1009	H>P		No	ClinGen Ensembl
rs540456315 CA353756572	1009	H>Q		No	ClinGen Ensembl
CA2543413 rs543969242	1009	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA353756699 rs1452135485	1013	Q>*		No	ClinGen gnomAD
rs199688330 CA2543416	1017	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2543417 rs199688330	1017	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2543418 rs761966089	1019	C>Y		No	ClinGen ExAC gnomAD
COSM1036441 CA2543419 rs772484289	1021	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2543420 rs773561274	1021	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs574258444 CA2543421	1023	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1387898963 CA353757311	1026	A>V		No	ClinGen gnomAD
rs541646866 CA2543423	1028	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2543424 rs754321140	1030	Q>H		No	ClinGen ExAC gnomAD
CA2543426 rs559785730 CA353757554	1032	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559785730 CA2543425	1032	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1576519996 CA353757632	1033	V>G		No	ClinGen Ensembl
CA353758932 rs1259963107	1036	A>G		No	ClinGen gnomAD
CA2543428 rs758107662	1036	A>T		No	ClinGen ExAC
rs1383930089 CA353758980	1038	D>G		No	ClinGen TOPMed
COSM1417848 rs184384636 CA2543432	1038	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs773469617 CA81509253	1039	S>R		No	ClinGen Ensembl
rs1239415615 CA353759179	1045	V>A		No	ClinGen gnomAD
rs748436195 CA2543436	1046	W>*		No	ClinGen ExAC gnomAD
rs1251575639 CA353759220	1046	W>*		No	ClinGen gnomAD
CA2543435 rs778952998	1046	W>R		No	ClinGen ExAC gnomAD
rs374290674 CA2543437	1047	D>G		No	ClinGen ESP ExAC gnomAD
rs1438813492 CA353759233	1047	D>H		No	ClinGen TOPMed
rs1392926887 CA353759382	1051	H>L		No	ClinGen TOPMed gnomAD
rs1165577536 CA353759370	1051	H>Y		No	ClinGen gnomAD
rs1354777763 CA353759838	1053	G>E		No	ClinGen gnomAD
CA2543453 rs370529653	1054	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2543454 rs370529653	1054	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559896461	1055	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896397394 CA81509538	1055	P>R		No	ClinGen TOPMed
rs866551781 CA81509541	1057	C>Y		No	ClinGen Ensembl
rs1256284490 CA353760050	1059	G>D		No	ClinGen gnomAD
rs747188084 CA2543458	1059	G>S		No	ClinGen ExAC gnomAD
CA2543459 rs771210467	1061	V>L		No	ClinGen ExAC gnomAD
rs965550691 CA81509545	1062	P>E		No	ClinGen TOPMed
CA81509547 rs868368246	1062	P>S		No	ClinGen Ensembl
CA353760140 rs1251448102	1064	E>K		No	ClinGen TOPMed
CA81509549 rs987273535	1066	V>M		No	ClinGen TOPMed gnomAD
rs777038814 CA2543460	1067	D>G		No	ClinGen ExAC TOPMed gnomAD
rs777038814 CA353760239	1067	D>V		No	ClinGen ExAC TOPMed gnomAD
CA2543462 rs770389788	1068	S>N		No	ClinGen ExAC TOPMed gnomAD
CA81509554 rs770846693	1070	D>A		No	ClinGen Ensembl
CA353760370 rs1427174161	1071	S>F		No	ClinGen gnomAD
rs776094689 CA2543463	1071	S>P		No	ClinGen ExAC
rs1355577393 CA353760413	1073	Q>H		No	ClinGen TOPMed
rs762586529 CA2543464	1074	V>E		No	ClinGen ExAC gnomAD
rs1169986139 CA353760436	1074	V>M		No	ClinGen gnomAD
CA353760465 rs1467614556	1075	S>G		No	ClinGen gnomAD
CA2543465 rs373669626	1075	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374713758 CA353760543	1077	G>E		No	ClinGen gnomAD
rs761514737 CA2543467	1078	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2543468 rs767283578	1080	C>R		No	ClinGen ExAC gnomAD
rs775507105 CA2543471	1085	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2543470 rs775507105	1085	V>L		No	ClinGen ExAC TOPMed gnomAD
CA545959631 rs1308131125	1088	Y>*		No	ClinGen TOPMed gnomAD
rs368172404 CA2543473	1089	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468378402 CA353760923	1091	Q>E		No	ClinGen gnomAD
rs1347704389 CA353761022	1093	P>L		No	ClinGen gnomAD
CA353761096 rs1244384434	1096	Q>*		No	ClinGen gnomAD
rs1458149145 CA353761127	1096	Q>H		No	ClinGen TOPMed
CA2543475 rs747249360	1097	L>F		No	ClinGen ExAC gnomAD
rs747249360 CA353761147	1097	L>V		No	ClinGen ExAC gnomAD
rs554975874 CA353761207	1099	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs746269289 CA2543478	1099	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs554975874 CA2543477	1099	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1394553132 CA353761230	1100	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	1101	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353761288 rs1474260682	1102	L>P		No	ClinGen TOPMed gnomAD
CA353761304 rs1160359054	1103	V>M		No	ClinGen gnomAD
rs145326895 CA2543480	1104	R>C		No	ClinGen ESP ExAC gnomAD
rs749757705 CA2543481	1104	R>H		No	ClinGen ExAC TOPMed gnomAD
CA353761328 rs749757705	1104	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1105	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369208603 CA353761361	1105	V>G		No	ClinGen gnomAD
CA353761344 rs768341516	1105	V>L		No	ClinGen ExAC gnomAD
rs768341516 CA2543482	1105	V>M		No	ClinGen ExAC gnomAD
rs953511480 CA81509587	1107	F>L		No	ClinGen Ensembl
rs149227964 CA81509590	1109	T>I		No	ClinGen ESP gnomAD
CA2543484 rs773909973	1110	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2543485 rs773909973	1110	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1111	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767176746 CA2543486	1111	P>S		No	ClinGen ExAC gnomAD
rs1019568485 CA81509597	1112	L>P		No	ClinGen Ensembl
rs772691098 CA2543487	1113	T>I		No	ClinGen ExAC
rs760549801 CA2543488	1114	I>V		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9BWV1

2 regional properties for Q9BWV1

Type	Name	Position	InterPro Accession
conserved_site	Sugar transporter, conserved site	141 - 157	IPR005829
domain	Major facilitator superfamily domain	83 - 498	IPR020846

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	Enriched at sites of cell-cell contact
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
axonal growth cone	The migrating motile tip of a growing nerve cell axon.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
positive regulation of myoblast differentiation	Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6AZB0	Boc	Brother of CDO	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MLRGTMTAWR	GMRPEVTLAC	LLLATAGCFA	DLNEVPQVTV	QPASTVQKPG	GTVILGCVVE
70	80	90	100	110	120
PPRMNVTWRL	NGKELNGSDD	ALGVLITHGT	LVITALNNHT	VGRYQCVARM	PAGAVASVPA
130	140	150	160	170	180
TVTLANLQDF	KLDVQHVIEV	DEGNTAVIAC	HLPESHPKAQ	VRYSVKQEWL	EASRGNYLIM
190	200	210	220	230	240
PSGNLQIVNA	SQEDEGMYKC	AAYNPVTQEV	KTSGSSDRLR	VRRSTAEAAR	IIYPPEAQTI
250	260	270	280	290	300
IVTKGQSLIL	ECVASGIPPP	RVTWAKDGSS	VTGYNKTRFL	LSNLLIDTTS	EEDSGTYRCM
310	320	330	340	350	360
ADNGVGQPGA	AVILYNVQVF	EPPEVTMELS	QLVIPWGQSA	KLTCEVRGNP	PPSVLWLRNA
370	380	390	400	410	420
VPLISSQRLR	LSRRALRVLS	MGPEDEGVYQ	CMAENEVGSA	HAVVQLRTSR	PSITPRLWQD
430	440	450	460	470	480
AELATGTPPV	SPSKLGNPEQ	MLRGQPALPR	PPTSVGPASP	QCPGEKGQGA	PAEAPIILSS
490	500	510	520	530	540
PRTSKTDSYE	LVWRPRHEGS	GRAPILYYVV	KHRKVTNSSD	DWTISGIPAN	QHRLTLTRLD
550	560	570	580	590	600
PGSLYEVEMA	AYNCAGEGQT	AMVTFRTGRR	PKPEIMASKE	QQIQRDDPGA	SPQSSSQPDH
610	620	630	640	650	660
GRLSPPEAPD	RPTISTASET	SVYVTWIPRG	NGGFPIQSFR	VEYKKLKKVG	DWILATSAIP
670	680	690	700	710	720
PSRLSVEITG	LEKGTSYKFR	VRALNMLGES	EPSAPSRPYV	VSGYSGRVYE	RPVAGPYITF
730	740	750	760	770	780
TDAVNETTIM	LKWMYIPASN	NNTPIHGFYI	YYRPTDSDND	SDYKKDMVEG	DKYWHSISHL
790	800	810	820	830	840
QPETSYDIKM	QCFNEGGESE	FSNVMICETK	ARKSSGQPGR	LPPPTLAPPQ	PPLPETIERP
850	860	870	880	890	900
VGTGAMVARS	SDLPYLIVGV	VLGSIVLIIV	TFIPFCLWRA	WSKQKHTTDL	GFPRSALPPS
910	920	930	940	950	960
CPYTMVPLGG	LPGHQASGQP	YLSGISGRAC	ANGIHMNRGC	PSAAVGYPGM	KPQQHCPGEL
970	980	990	1000	1010	1020
QQQSDTSSLL	RQTHLGNGYD	PQSHQITRGP	KSSPDEGSFL	YTLPDDSTHQ	LLQPHHDCCQ
1030	1040	1050	1060	1070	1080
RQEQPAAVGQ	SGVRRAPDSP	VLEAVWDPPF	HSGPPCCLGL	VPVEEVDSPD	SCQVSGGDWC
1090	1100	1110
PQHPVGAYVG	QEPGMQLSPG	PLVRVSFETP	PLTI