AiPD: Autoinhibited Protein Database

Q9BYH1

Gene name	SEZ6L (KIAA0927, UNQ2542/PRO6094)
Protein name	Seizure 6-like protein
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23544
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

98-196 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

98-196 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

2 structures for Q9BYH1

Entry ID	Method	Resolution	Chain	Position	Source
2YRA	NMR	-	A	745-802	PDB
AF-Q9BYH1-F1	Predicted				AlphaFoldDB

829 variants for Q9BYH1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000149089 rs193920876 CA174328	260	E>*	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA322578775 rs972076408	3	A>V		No	ClinGen TOPMed gnomAD
CA322578793 rs989126830	4	A>T		No	ClinGen TOPMed
CA411068283 rs1179828785	5	R>G		No	ClinGen TOPMed
CA322578808 rs924838139	5	R>P		No	ClinGen TOPMed
TCGA novel	7	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601939317 CA411068297	7	P>R		No	ClinGen Ensembl
rs1601939359 CA411068307	9	A>S		No	ClinGen Ensembl
CA322578835 rs945346439	10	G>R		No	ClinGen Ensembl
rs1297973177 CA411068318	11	L>I		No	ClinGen gnomAD
rs1394533402 CA411068319	11	L>P		No	ClinGen gnomAD
rs1219092259 CA411068324	12	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411068323 rs1219092259	12	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	13	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322578845 rs527371769	15	S>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA10161856 rs199592259	17	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322578872 rs943396463	20	L>V		No	ClinGen TOPMed gnomAD
rs943394849 CA322578896	23	G>R		No	ClinGen TOPMed gnomAD
CA411068397 rs1347908522	24	S>R		No	ClinGen TOPMed
CA411068409 rs1304316013	26	A>E		No	ClinGen TOPMed
TCGA novel	26	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322578899 rs1039462706	31	R>L		No	ClinGen TOPMed
rs1226340911 CA411068439	32	D>N		No	ClinGen TOPMed gnomAD
CA411013765 rs1426994875	32	D>V		No	ClinGen gnomAD
CA10161863 rs200131802	34	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322844726 rs546975140	34	L>P		No	ClinGen 1000Genomes gnomAD
rs1403107796 CA411013783	35	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10161865 rs373985470	36	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747431926 CA322844762	37	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10161866 rs747431926	37	G>V		No	ClinGen ExAC TOPMed gnomAD
CA411013801 rs548220330 CA10161868	38	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1246514207 CA411013795	38	D>N		No	ClinGen gnomAD
rs941607895 CA322844796	39	A>T		No	ClinGen gnomAD
rs770575674 CA10161869	40	S>G		No	ClinGen ExAC TOPMed gnomAD
CA411013807 rs770575674	40	S>R		No	ClinGen ExAC TOPMed gnomAD
CA10161872 rs762982867	43	G>D		No	ClinGen ExAC gnomAD
CA10161871 rs144848715	43	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751381332 CA10161874	44	P>R		No	ClinGen ExAC TOPMed gnomAD
rs764187004 CA10161873	44	P>T		No	ClinGen ExAC gnomAD
rs140163670 CA10161876	46	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10161875 rs140163670	46	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1161324266 CA411013856	48	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	48	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411013870 rs1344477141	51	A>T		No	ClinGen TOPMed
CA411013875 rs1430162585	51	A>V		No	ClinGen TOPMed gnomAD
VAR_043338 CA10161878 rs6004989	52	P>L		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
TCGA novel	52	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288261975 CA411013887	53	E>D		No	ClinGen TOPMed
CA411013889 rs1453017919	54	R>G		No	ClinGen gnomAD
CA10161880 rs201583563	54	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10161881 rs758891792	55	G>S		No	ClinGen ExAC gnomAD
COSM1714222 CA322844901 rs1043781177	56	S>N	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1043781177 CA411013903	56	S>T		No	ClinGen gnomAD
CA10161882 rs778300915	57	P>L		No	ClinGen ExAC gnomAD
CA411013912 rs1315793046	58	G>S		No	ClinGen gnomAD
CA411013928 rs1259485632	60	E>Q		No	ClinGen gnomAD
rs1184538541 CA411013940	61	H>Q		No	ClinGen gnomAD
CA411013962 rs999815088	64	E>D		No	ClinGen gnomAD
rs747546894 CA10161883	64	E>K		No	ClinGen ExAC gnomAD
CA411013964 rs1179147410	65	R>*		No	ClinGen gnomAD
rs771153075 CA10161884	65	R>K		No	ClinGen ExAC gnomAD
CA10161886 rs781631005	67	V>A		No	ClinGen ExAC gnomAD
rs781631005 CA10161885	67	V>E		No	ClinGen ExAC gnomAD
CA411013980 rs1292205446	68	T>A		No	ClinGen gnomAD
rs775129466 CA10161889	70	P>A		No	ClinGen ExAC gnomAD
CA10161888 rs775129466	70	P>S		No	ClinGen ExAC gnomAD
rs775129466 CA411013991	70	P>T		No	ClinGen ExAC gnomAD
CA411013997 rs1335794595	71	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs768688521 CA10161890	71	P>S		No	ClinGen ExAC gnomAD
rs774387268 CA10161891	72	S>I		No	ClinGen ExAC gnomAD
CA411014008 rs1444180306	73	S>P		No	ClinGen gnomAD
CA411014024 rs1372250226	75	Q>L		No	ClinGen gnomAD
rs367686525 CA10161892	76	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10161894 rs570565336	77	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	77	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1032941 rs570565336 CA10161893	77	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1262839983 CA411014037	78	E>Q		No	ClinGen TOPMed
rs764181991 CA10161899	82	E>A		No	ClinGen ExAC gnomAD
CA322845012 rs985603515	82	E>K		No	ClinGen gnomAD
rs1463930849 CA411014068	83	L>V		No	ClinGen TOPMed
CA411014075 rs1569447938	84	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA322845019 rs909867750	84	V>L		No	ClinGen gnomAD
rs909867750 CA411014072	84	V>M		No	ClinGen gnomAD
CA411014086 rs1469831190	86	D>G		No	ClinGen gnomAD
CA10161900 rs752005755	88	T>A		No	ClinGen ExAC TOPMed gnomAD
rs376609269 CA10161902	89	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	90	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867362972 CA322845061	90	P>L		No	ClinGen Ensembl
CA10161904 rs147727804	93	H>N		No	ClinGen ESP ExAC gnomAD
rs372902970 CA10161905	94	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1329304290 CA411014134	94	H>R		No	ClinGen gnomAD
rs768229027 CA10161908	95	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10161907 rs748983148	95	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1345566222 CA411014146	96	I>N		No	ClinGen gnomAD
CA411014155 rs1283199258	97	P>L		No	ClinGen gnomAD
CA322845107 rs201824145	98	A>G		No	ClinGen TOPMed gnomAD
CA322845106 rs939472111	98	A>S		No	ClinGen Ensembl
CA411014170 rs1216631744	100	S>L		No	ClinGen gnomAD
CA411014174 rs1202658148	101	P>Q		No	ClinGen gnomAD
rs1437422638 CA411014173	101	P>S		No	ClinGen gnomAD
rs760566198 CA10161913	102	L>P		No	ClinGen ExAC gnomAD
rs1427036564 CA411014197	105	E>G		No	ClinGen gnomAD
CA322845139 rs267606203	106	E>K		No	ClinGen Ensembl
CA411014211 rs1168241174	107	A>D		No	ClinGen gnomAD
TCGA novel	107	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1265366 rs775649548 CA10161916	108	R>C	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10161917 rs764095767 COSM1327295	108	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs775649548 CA10161915 COSM377610	108	R>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1171087173 CA411014222	109	P>R		No	ClinGen TOPMed
rs1165070722 CA411014233	111	H>Y		No	ClinGen gnomAD
COSM3390146 rs996288290 CA322845185	112	A>T	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA10161919 rs757693704	114	P>L		No	ClinGen ExAC gnomAD
rs1300759947 CA411014253	114	P>S		No	ClinGen gnomAD
rs144766472 CA10161921	115	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs557394435 CA10161922	116	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA322845239 rs890240923	116	K>Q		No	ClinGen TOPMed
CA411014277 rs1294217142	118	K>E		No	ClinGen gnomAD
rs748888826 CA10161924	120	P>R		No	ClinGen ExAC gnomAD
TCGA novel	120	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151261975 CA10161926	121	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA10161925 rs151261975	121	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs771880760 CA10161928	122	L>F		No	ClinGen ExAC TOPMed gnomAD
CA411014319 rs545994093	125	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10161929 rs545994093	125	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1165244258 CA411014340	128	A>D		No	ClinGen gnomAD
CA10161930 rs759108165	128	A>S		No	ClinGen ExAC gnomAD
TCGA novel	129	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411014364 rs1385407958	131	Q>H		No	ClinGen gnomAD
rs1161090599 CA411014368	132	L>P		No	ClinGen TOPMed gnomAD
rs1161090599 CA411014367	132	L>Q		No	ClinGen TOPMed gnomAD
CA10161931 rs770655782	132	L>V		No	ClinGen ExAC TOPMed gnomAD
rs901753243 CA322845321	137	T>I		No	ClinGen Ensembl
rs776416092 CA411014397	137	T>P		No	ClinGen ExAC gnomAD
rs776416092 CA10161932	137	T>S		No	ClinGen ExAC gnomAD
CA411014406 rs1315682442	138	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA411014407 rs140450910	139	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10161934 rs140450910	139	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10161936 rs761996936	140	A>D		No	ClinGen ExAC gnomAD
CA10161938 rs540410784	143	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs761274344 CA10161939	144	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766780388 CA411014443	145	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10161940 rs766780388	145	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10161941 rs754318303	146	G>V		No	ClinGen ExAC gnomAD
CA10161942 rs754661681	147	S>C		No	ClinGen ExAC gnomAD
CA411014453 rs1601405701	147	S>P		No	ClinGen Ensembl
rs778674201 CA10161943	149	P>S		No	ClinGen ExAC TOPMed gnomAD
CA322845382 rs980545073	150	A>V		No	ClinGen TOPMed gnomAD
CA10161945 rs757884243	151	S>T		No	ClinGen ExAC gnomAD
TCGA novel	154	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	156	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM175921 rs1157492798 CA411014507	156	L>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1164824440 CA411014518	157	L>P		No	ClinGen TOPMed
CA10161949 rs746898457	158	S>F		No	ClinGen ExAC gnomAD
CA10161948 rs746898457	158	S>Y		No	ClinGen ExAC gnomAD
CA322845440 rs373898124	159	S>F		No	ClinGen ESP TOPMed
CA10161950 COSM76394 rs201671037	161	T>M	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1452436198 CA411014551	163	K>R		No	ClinGen gnomAD
CA411014556 rs1337757660	164	P>A		No	ClinGen gnomAD
rs1239787634 CA411014559	164	P>R		No	ClinGen gnomAD
CA10161953 rs530677652	165	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411014573 rs773165264	167	P>A		No	ClinGen ExAC gnomAD
CA10161957 rs200003656	167	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200003656 CA322845510	167	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773165264 CA10161956	167	P>T		No	ClinGen ExAC gnomAD
rs754230514 CA10161959	168	G>V		No	ClinGen ExAC gnomAD
rs752344957 CA10161962	169	D>E		No	ClinGen ExAC gnomAD
CA10161960 rs760017116	169	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10161961 rs765550301	169	D>V		No	ClinGen ExAC TOPMed gnomAD
CA411014589 rs992445022	170	P>L		No	ClinGen gnomAD
rs992445022 CA322845517	170	P>Q		No	ClinGen gnomAD
CA411014594 rs1569448453	171	D>A		No	ClinGen Ensembl
rs1569448453 CA411014593	171	D>V		No	ClinGen Ensembl
rs201060309 CA10161964	173	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs376527866 CA411014608	173	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10161965 rs751129992	173	I>T		No	ClinGen ExAC gnomAD
rs149306304 CA10161967	174	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs745840673 CA10161968	175	A>P		No	ClinGen ExAC TOPMed gnomAD
rs745840673 CA411014614	175	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411014618 rs1392213445	175	A>V		No	ClinGen gnomAD
CA10161971 rs370632181	177	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10161972 rs374087121	178	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA411014632 rs1283846316	178	E>K		No	ClinGen gnomAD
CA10161973 rs773325482	179	A>T		No	ClinGen ExAC gnomAD
CA322845622 rs878951013	180	S>A		No	ClinGen TOPMed
rs1252880363 CA411014647	180	S>L		No	ClinGen gnomAD
rs878951013 CA322845618	180	S>T		No	ClinGen TOPMed
rs747137234 CA10161974	183	P>S		No	ClinGen ExAC TOPMed gnomAD
CA411014662 rs747137234	183	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1194850723 CA411014667	184	L>I		No	ClinGen gnomAD
VAR_024348 rs137203 CA10161975	185	W>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs111570897 CA322845640	186	L>P		No	ClinGen Ensembl
CA411014695 rs146205533	188	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10161977 rs146205533	188	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10161978 rs765580150	189	K>R		No	ClinGen ExAC gnomAD
CA411014709 rs1205612814	190	E>D		No	ClinGen TOPMed
rs775785197 CA10161979	190	E>G		No	ClinGen ExAC gnomAD
CA10161982 rs138721720	192	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs138721720 CA10161980	192	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329978548 CA411014721	192	A>S		No	ClinGen TOPMed
CA10161981 rs138721720	192	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA322845757 rs267606204	194	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411014728 rs267606204	194	P>T		No	ClinGen gnomAD
rs141695407 CA10161985	196	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA411014744 rs1303853445	197	P>S		No	ClinGen TOPMed gnomAD
rs756013990 CA411014751	198	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10161986 rs756013990	198	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1470636396 CA411014753	198	A>V		No	ClinGen TOPMed
rs779898861 CA10161987	199	P>A		No	ClinGen ExAC TOPMed gnomAD
rs779898861 CA411014756	199	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749098160 CA10161988	201	Q>K		No	ClinGen ExAC gnomAD
CA411014784 rs1361166023	203	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778182243 CA10161991	206	T>I		No	ClinGen ExAC gnomAD
rs200293457 CA10161992 COSM183881	207	S>L	Variant assessed as Somatic; 0.0001387 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs200293457 CA10161993	207	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA411014836 rs1336431146	212	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10161996 rs371017350	213	H>Q		No	ClinGen ESP ExAC gnomAD
rs575533627 CA10161998	215	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10162000 rs773941150	216	P>H	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411014873 rs1290551378	218	R>G		No	ClinGen gnomAD
CA322845874 rs979371481	221	P>L		No	ClinGen TOPMed gnomAD
CA411014896 rs1274318543	221	P>T		No	ClinGen Ensembl
rs767713226 CA10162003	222	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	223	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162005 rs557920754 CA322845901	223	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs987108257 CA322845890	223	E>K		No	ClinGen TOPMed
rs987108257 CA411014905	223	E>Q		No	ClinGen TOPMed
rs368564640 CA10162006	224	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162007 rs754691675	226	P>T		No	ClinGen ExAC
CA411014931 rs1262946189	227	D>E		No	ClinGen TOPMed gnomAD
CA10162008 rs147999138	227	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA322845924 rs960704656 CA411014939	228	M>I		No	ClinGen TOPMed
rs1276426496 CA411014933	228	M>V		No	ClinGen gnomAD
rs751774206 CA10162009	230	Q>R		No	ClinGen ExAC gnomAD
rs781407555 CA411014964	232	A>G		No	ClinGen ExAC TOPMed gnomAD
rs992371326 CA322845938	232	A>S		No	ClinGen TOPMed gnomAD
rs992371326 CA411014961	232	A>T		No	ClinGen TOPMed gnomAD
rs781407555 CA10162011	232	A>V		No	ClinGen ExAC TOPMed gnomAD
CA322845947 rs770303218	233	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10162013 rs770303218	233	P>R		No	ClinGen ExAC TOPMed gnomAD
rs745983717 CA10162012	233	P>S		No	ClinGen ExAC gnomAD
rs745983717 CA411014965	233	P>T		No	ClinGen ExAC gnomAD
rs1422059321 CA411014985	236	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1422059321 CA411014984	236	D>Y		No	ClinGen TOPMed gnomAD
CA10162015 rs199597034	237	T>I		No	ClinGen ExAC TOPMed gnomAD
CA10162014 rs199597034	237	T>S		No	ClinGen ExAC TOPMed gnomAD
rs768948594 CA10162016	238	S>G		No	ClinGen ExAC TOPMed gnomAD
CA10162017 rs774698528	239	P>T		No	ClinGen ExAC gnomAD
rs1318505335 CA411015008	240	M>L		No	ClinGen gnomAD
CA10162018 rs761454567	240	M>T		No	ClinGen ExAC gnomAD
rs1036113017 CA322845969	241	A>T		No	ClinGen TOPMed
CA322845973 rs979609955	242	L>V		No	ClinGen TOPMed gnomAD
rs772690714 CA10162020	243	M>L		No	ClinGen ExAC TOPMed gnomAD
CA10162022 rs141642477	244	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162021 rs760146108	244	D>N		No	ClinGen ExAC gnomAD
rs1307116803 CA411015049	246	G>C		No	ClinGen gnomAD
rs1343352221 CA411015068	248	N>K		No	ClinGen gnomAD
CA10162023 rs753670484	252	G>R		No	ClinGen ExAC gnomAD
CA322846023 rs925464017	252	G>V		No	ClinGen Ensembl
rs1266838634 CA411015103	254	A>V		No	ClinGen gnomAD
CA411015114 rs1569448877	256	E>A		No	ClinGen Ensembl
CA10162024 rs759532453	256	E>K		No	ClinGen ExAC gnomAD
CA10162025 rs150517564	257	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201779919 CA10162026	259	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482410120 CA411015143	260	E>V		No	ClinGen gnomAD
CA411015149 rs1281996478	261	T>N		No	ClinGen gnomAD
CA10162028 rs375502842	262	T>I		No	ClinGen ESP ExAC gnomAD
CA10162030 rs367558456	263	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs780192491 COSM4156091 CA10162031	263	T>N	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA411015158 rs367558456	263	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1333281495 CA411015165	264	S>F		No	ClinGen gnomAD
CA322846083 rs267606205	264	S>P		No	ClinGen Ensembl
CA411015171 rs1445156400	265	T>I		No	ClinGen TOPMed
CA411015175 rs368299217	266	I>N		No	ClinGen TOPMed gnomAD
CA322846087 rs368299217	266	I>T		No	ClinGen TOPMed gnomAD
rs1414710415 CA411015173	266	I>V		No	ClinGen TOPMed
CA411015183 rs1298433552	267	I>N		No	ClinGen gnomAD
rs1349318176 CA411015190	268	T>I		No	ClinGen gnomAD
CA411015195 rs1226105442	269	T>S		No	ClinGen gnomAD
CA411015198 rs1286924679	270	T>A		No	ClinGen gnomAD
COSM183882 rs371478865 CA10162034	270	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1278395043 CA411015204	271	V>F		No	ClinGen gnomAD
rs372123102 CA322846143	273	T>A		No	ClinGen Ensembl
CA10162036 rs748564979	273	T>I		No	ClinGen ExAC gnomAD
rs760398959 CA322846170	275	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10162039 rs760398959	275	E>Q		No	ClinGen ExAC gnomAD
rs1180113352 CA411015235	276	Q>R		No	ClinGen gnomAD
rs945397245 CA322847108	279	A>V		No	ClinGen gnomAD
rs1341740719 CA411015285	282	S>N		No	ClinGen gnomAD
CA10162048 rs756359409	285	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1051935024 CA322847128	287	N>H		No	ClinGen gnomAD
CA411015353 rs1342466043	292	I>V		No	ClinGen gnomAD
CA10162049 rs766360176	293	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA411015378 rs1198057657	295	S>R		No	ClinGen TOPMed gnomAD
CA322847139 rs372813703	296	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162050 rs200380172	296	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372813703 CA10162051	296	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186898549 CA411015393	298	P>T		No	ClinGen TOPMed gnomAD
rs779439553 CA10162052	299	L>Q		No	ClinGen ExAC gnomAD
CA10162054 rs758715773	303	N>S		No	ClinGen ExAC TOPMed gnomAD
CA10162055 rs376420402	304	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162057 rs375396789	312	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA411015492 rs1304712629	313	T>A		No	ClinGen gnomAD
CA411015506 rs1298831644	315	Y>C		No	ClinGen gnomAD
CA10162058 rs775981700	316	T>A		No	ClinGen ExAC gnomAD
rs1317497088 CA411015514	316	T>I		No	ClinGen TOPMed gnomAD
CA411015537 rs1209390823	320	V>L		No	ClinGen gnomAD
CA411015543 rs1569449667	321	E>A		No	ClinGen Ensembl
rs866486034 CA322847210	321	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA322849909 rs201889766	324	V>M		No	ClinGen gnomAD
CA411015581 rs1455919117	325	K>E		No	ClinGen TOPMed gnomAD
rs749228935 CA10162079	327	V>A		No	ClinGen ExAC gnomAD
rs1287570848 CA411015623	331	D>G		No	ClinGen gnomAD
CA10162082 rs200655803	331	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411015621 rs200655803	331	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771797089 CA10162083	332	G>A		No	ClinGen ExAC TOPMed gnomAD
rs771797089 CA10162084	332	G>E		No	ClinGen ExAC TOPMed gnomAD
CA322850011 rs1050376408	334	L>Q		No	ClinGen gnomAD
rs765236032 CA10162086	338	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752841877 CA10162088	338	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752841877 CA10162087	338	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1395517858 CA411015669	339	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411015665 CA10162090 rs752037782	339	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	341	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411015678 COSM402263 rs1157086070	341	D>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA411015686 rs1178915499	342	G>C		No	ClinGen TOPMed gnomAD
rs1178915499 CA411015684	342	G>S		No	ClinGen TOPMed gnomAD
CA411015693 rs1293427682	343	P>R		No	ClinGen TOPMed
CA10162091 rs757591644	343	P>S		No	ClinGen ExAC gnomAD
CA411015695 rs1601418939	344	T>P		No	ClinGen Ensembl
CA10162095 rs779693939	346	T>S		No	ClinGen ExAC gnomAD
rs370293421 CA10162097	347	V>I	Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1038609228 CA322850081	350	N>H		No	ClinGen TOPMed
CA411015729 rs1601419073	350	N>T		No	ClinGen Ensembl
CA411015740 rs1348512708	351	Q>H		No	ClinGen gnomAD
CA411015765 rs1230881914	356	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1601419216 CA411015790	359	V>G		No	ClinGen Ensembl
rs772996595 CA10162101	361	R>*		No	ClinGen ExAC gnomAD
CA10162102 rs759752155	361	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770059318 CA10162103	362	S>N		No	ClinGen ExAC gnomAD
CA10162104 rs200639264	363	P>L		No	ClinGen ExAC gnomAD
CA10162106 rs764103368	365	N>D		No	ClinGen ExAC gnomAD
rs1197271533 CA411015829	366	T>A		No	ClinGen TOPMed gnomAD
rs144740621 CA10162110	369	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755803132 CA10162111	370	Y>C		No	ClinGen ExAC gnomAD
rs148526431 CA10162115	372	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM3693980 CA10162113 rs753580054	372	R>W	large_intestine Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs371203903 CA411015898	376	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771972637 CA10162118	377	D>E		No	ClinGen ExAC TOPMed gnomAD
rs142863810 CA322850288	377	D>H		No	ClinGen ESP ExAC gnomAD
COSM2935405 rs142863810 CA10162117	377	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs746856153 CA10162120 COSM478824	378	G>S	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1306653946 CA411015912	379	L>V		No	ClinGen gnomAD
CA322850326 rs1012071286	380	G>R		No	ClinGen Ensembl
CA411015924 rs146559583	381	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs146559583 CA10162121	381	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162124 rs768713974	385	H>R		No	ClinGen ExAC gnomAD
CA411015949 rs1360894831	385	H>Y		No	ClinGen gnomAD
CA411015967 rs1359080394	387	Q>R		No	ClinGen TOPMed
rs200415298 CA411015986	388	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs200415298 CA10162138	388	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs530675585 CA322851903	390	M>K		No	ClinGen 1000Genomes
rs1182485829 CA411016030	394	N>K		No	ClinGen TOPMed gnomAD
rs141216329 CA10162139	394	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM726064 CA10162140 rs769535333	397	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749520505 CA10162141	398	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411016052 rs1422152907	398	R>W		No	ClinGen gnomAD
rs768815092 CA10162142	400	D>N		No	ClinGen ExAC gnomAD
rs963227346 CA322851950	403	D>V		No	ClinGen Ensembl
TCGA novel	404	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162143 rs774464657	405	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10162146 rs773810806	407	M>T		No	ClinGen ExAC gnomAD
rs1252819140 CA411016115	408	D>G		No	ClinGen Ensembl
rs201236913 CA10162147	408	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs776927721 CA10162149	410	H>N		No	ClinGen ExAC gnomAD
CA10162152 rs752220381	413	G>R		No	ClinGen ExAC gnomAD
CA411016204 rs1184512630	421	L>R		No	ClinGen gnomAD
rs140350607 CA10162155	424	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411016247 rs546700393	428	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10162158 rs546700393	428	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150343251 CA10162159	429	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	429	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162161 VAR_020330 CA411016263 rs663048	430	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
rs778959669 CA10162160	430	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1205184251 CA411016271	432	T>A		No	ClinGen TOPMed
CA10162162 rs535098842	432	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1375063081 CA411016290	435	N>H		No	ClinGen gnomAD
rs1409705744 CA411016295	435	N>S		No	ClinGen gnomAD
TCGA novel	436	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436966333 CA411016303	436	A>V		No	ClinGen TOPMed
rs778009245 CA411016317	438	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1220246054 CA411016323	439	P>L		No	ClinGen gnomAD
rs1601425210 CA411016327	440	H>P		No	ClinGen Ensembl
CA411016337 rs1310718034	441	W>*		No	ClinGen gnomAD
CA411016344 rs1601425234	442	S>T		No	ClinGen Ensembl
TCGA novel	443	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759860157 CA10162167	444	Q>R		No	ClinGen ExAC gnomAD
rs774946715 CA10162169	446	P>A		No	ClinGen ExAC gnomAD
CA411016378 rs1248388409	447	I>V		No	ClinGen gnomAD
rs1569452328 CA411016397	449	S>L		No	ClinGen Ensembl
rs762580609 CA10162189	455	A>P		No	ClinGen ExAC gnomAD
rs1323504445 CA411017031	456	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411017032 rs1323504445	456	V>G		No	ClinGen gnomAD
CA411017039 rs1392666013	457	H>Q		No	ClinGen gnomAD
CA411017050 rs1453736201	459	A>T		No	ClinGen TOPMed
rs768343224 CA10162190	461	I>T		No	ClinGen ExAC TOPMed gnomAD
CA322810206 rs201513330	461	I>V		No	ClinGen 1000Genomes
rs1364806139 CA411017066	462	G>S		No	ClinGen gnomAD
CA10162192 rs761270884	463	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10162194 rs373919244	464	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201151950 CA322810231	465	L>F		No	ClinGen Ensembl
rs1271206686 CA411017084	465	L>H		No	ClinGen gnomAD
CA411017087 rs1245430767	466	S>T		No	ClinGen TOPMed
CA411017097 rs1209189991	467	P>R		No	ClinGen gnomAD
CA10162197 rs753746720	468	S>G		No	ClinGen ExAC TOPMed gnomAD
rs577578861 CA10162198	468	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411017106 rs1189230337	469	Y>H		No	ClinGen TOPMed gnomAD
CA10162199 rs778181795	470	P>A		No	ClinGen ExAC TOPMed gnomAD
rs751863540 CA10162200	470	P>L		No	ClinGen ExAC gnomAD
rs1416424881 CA411017121	471	E>G		No	ClinGen gnomAD
CA10162202 rs781334572	475	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1355492093 CA411017147	475	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411017155 rs746354060	476	S>N		No	ClinGen ExAC TOPMed gnomAD
CA10162203 rs746354060	476	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	478	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1054465819 CA322810292	480	I>L		No	ClinGen TOPMed gnomAD
rs780374529 CA10162205	480	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1054465819 CA411017183	480	I>V		No	ClinGen TOPMed gnomAD
rs749689702 CA10162206	481	W>*		No	ClinGen ExAC gnomAD
CA10162208 rs138692969	482	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10162207 rs138692969	482	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411017199 rs138692969	482	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1397376276 CA411017212 COSM1265367	484	E>D	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10162211 rs772849784	484	E>G		No	ClinGen ExAC gnomAD
CA10162212 rs760520309	485	A>D		No	ClinGen ExAC gnomAD
CA411017217 rs760520309	485	A>V		No	ClinGen ExAC gnomAD
CA322810339 rs867172075	486	P>S		No	ClinGen Ensembl
rs966851491 CA322810355	487	E>Q		No	ClinGen Ensembl
rs766389597 CA10162213	488	G>C		No	ClinGen ExAC TOPMed gnomAD
CA322810372 rs766389597	488	G>S		No	ClinGen ExAC TOPMed gnomAD
CA411017250 rs1201759405	490	K>N		No	ClinGen gnomAD
rs1278898219 CA411017251	491	L>M		No	ClinGen gnomAD
TCGA novel	494	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162215 rs759366608	494	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA322810393 rs1019104924	497	R>K		No	ClinGen TOPMed
CA411017294 rs1019104924	497	R>T		No	ClinGen TOPMed
rs1601446748 CA411017304	499	L>V		No	ClinGen Ensembl
rs765147453 CA10162216	500	L>M		No	ClinGen ExAC gnomAD
rs201913763 CA10162217	501	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1293447766 CA411017332	503	K>T		No	ClinGen gnomAD
CA10162218 rs757564984	504	D>E		No	ClinGen ExAC gnomAD
TCGA novel	504	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411018149 rs1330331452	505	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1415340 CA10162243 rs376866700	507	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1342163858 CA411018184	508	V>I		No	ClinGen gnomAD
CA10162247 rs147328329	510	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209524750 CA411018226	511	G>E		No	ClinGen TOPMed
rs770508545 CA10162248	511	G>R		No	ClinGen ExAC TOPMed gnomAD
CA411018234 rs1342315936	512	Q>E		No	ClinGen TOPMed
COSM1535013 CA411018243 rs1479968430	512	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA411018269 rs1268436388	514	N>K		No	ClinGen gnomAD
CA10162249 rs367751295	515	K>N		No	ClinGen ESP ExAC TOPMed
TCGA novel	519	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191914136 CA411018349	521	D>N		No	ClinGen gnomAD
rs117917851 CA10162253 RCV000890862	526	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs117917851 CA10162254	526	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs892357824 CA322814013	527	S>R		No	ClinGen gnomAD
rs200361966 CA10162256	527	S>T		No	ClinGen ExAC TOPMed gnomAD
rs766445280 CA10162257	528	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA322814029 rs753979191	530	F>L		No	ClinGen ExAC TOPMed gnomAD
CA411018523 rs1414280447	534	L>M		No	ClinGen gnomAD
rs1170106392 CA411018539	535	S>T		No	ClinGen TOPMed
CA10162260 rs765777882	536	E>K		No	ClinGen ExAC gnomAD
rs374078308 CA10162261	538	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601460235 CA411018598	539	T>I		No	ClinGen Ensembl
CA411018590 rs1601460216	539	T>P		No	ClinGen Ensembl
COSM1415341 rs758741564 CA10162262	541	R>C	salivary_gland Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs142214073 RCV000903831 CA10162263 COSM1415342	541	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA411018632 rs144295883	542	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000954195 CA10162264 rs201153704	542	I>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA411018635 rs1247551394	543	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	543	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440151362 CA411018650	544	F>L		No	ClinGen TOPMed
CA322814084 rs190114018	545	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA411018681 rs1212273891	546	S>P		No	ClinGen gnomAD
rs1212273891 CA411018680	546	S>T		No	ClinGen gnomAD
rs139354547 CA10162269	547	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10162270 rs749192838	548	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1294079702 CA411018722	549	A>T		No	ClinGen TOPMed
rs768428046 CA10162271	549	A>V		No	ClinGen ExAC gnomAD
rs150022206 CA10162274	550	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	550	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150022206 CA10162273	550	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162272 rs774078967	550	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10162276 rs201841723	551	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411018746 rs201841723	551	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201841723 CA10162275	551	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763376330 CA10162279	554	T>A		No	ClinGen ExAC TOPMed gnomAD
CA322814144 rs967540696	554	T>I		No	ClinGen TOPMed gnomAD
rs1234308062 CA411018806 COSM141618	556	N>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1286770959 CA411018818 COSM2935422	558	R>*	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs764504144 CA411018820	558	R>L		No	ClinGen ExAC TOPMed gnomAD
rs764504144 CA10162280	558	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199961565	561	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs143554731 CA10162317	561	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10162282 rs756939001	561	A>T		No	ClinGen ExAC
rs143554731 CA10162318	561	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA411018924 rs1370212620	565	G>A		No	ClinGen gnomAD
CA411018922 rs1370212620	565	G>D		No	ClinGen gnomAD
rs1296774304 CA411018918	565	G>R		No	ClinGen gnomAD
CA10162323 rs146763740	568	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs773767877 CA10162324	569	E>V		No	ClinGen ExAC gnomAD
rs1230779974 CA411019005	571	Y>C		No	ClinGen gnomAD
rs940105781 CA322815073	572	I>T		No	ClinGen gnomAD
rs1234963037 CA411019039	573	Q>L		No	ClinGen TOPMed
CA322815086 rs765991423	574	N>D		No	ClinGen ExAC TOPMed gnomAD
CA10162326 rs765991423	574	N>H		No	ClinGen ExAC TOPMed gnomAD
CA411019059 rs1248189218	574	N>K		No	ClinGen gnomAD
rs753562067 CA10162327	577	F>L		No	ClinGen ExAC gnomAD
CA411019104 rs1192544833	578	T>A		No	ClinGen gnomAD
CA411019142 rs1168728627	581	D>E		No	ClinGen gnomAD
CA411019135 rs1173915006	581	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10162328 rs758925150	582	P>L		No	ClinGen ExAC TOPMed gnomAD
CA411019189 rs1351917675	585	N>K		No	ClinGen TOPMed gnomAD
TCGA novel	585	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201588335 CA10162330	586	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758398276 CA10162331	587	G>A		No	ClinGen ExAC gnomAD
CA411019258 rs1369116780	588	T>A		No	ClinGen gnomAD
CA322815117 rs978008131	589	I>M		No	ClinGen TOPMed
CA10162332 rs142677073	589	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437331688 CA411019266	589	I>V		No	ClinGen gnomAD
rs757104987 CA10162334	593	T>I		No	ClinGen ExAC gnomAD
CA411019353 rs1250726508	595	D>A		No	ClinGen gnomAD
rs1250726508 CA411019355	595	D>G		No	ClinGen gnomAD
rs768547272 CA10162337	595	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	596	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411019363 rs1466004647	596	P>T		No	ClinGen gnomAD
TCGA novel	597	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162339 rs375633558	597	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411019436 rs1457248413	601	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA411019447 rs1474145489	602	Q>R		No	ClinGen gnomAD
CA411019452 rs1416661263	603	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10162341 rs773884340	604	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370294088 CA10162344	608	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA10162345 rs759232029	610	I>V		No	ClinGen ExAC gnomAD
CA411019570 rs1325861259	611	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	613	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411019595 rs1285863969	613	R>Q		No	ClinGen TOPMed gnomAD
CA10162346 rs764723375 COSM1641521	613	R>W	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs201869380 CA10162347	614	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA411019623 rs1270992700	616	Y>H		No	ClinGen gnomAD
rs1205289703 CA411019661	618	N>Y		No	ClinGen gnomAD
CA10162350 rs751537304	621	E>D		No	ClinGen ExAC gnomAD
CA10162349 rs763977367	621	E>K		No	ClinGen ExAC gnomAD
rs763977367 CA411019701	621	E>Q		No	ClinGen ExAC gnomAD
rs756943882 CA322815202	622	P>S		No	ClinGen ExAC gnomAD
rs756943882 CA10162351	622	P>T		No	ClinGen ExAC gnomAD
TCGA novel	623	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754001153 CA10162353	623	L>R		No	ClinGen ExAC TOPMed gnomAD
CA10162355 rs779112011	625	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747470133 CA10162380	627	M>L		No	ClinGen ExAC gnomAD
CA10162381 rs757843445	627	M>T		No	ClinGen ExAC gnomAD
CA411020188 rs1374894634	628	C>R		No	ClinGen gnomAD
rs781390790 CA10162382	629	G>C		No	ClinGen ExAC gnomAD
rs746189586 CA10162383	632	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1388368175 CA411020235	635	V>A		No	ClinGen TOPMed gnomAD
CA10162384 rs770163392	636	A>S		No	ClinGen ExAC gnomAD
CA411020237 rs770163392	636	A>T		No	ClinGen ExAC gnomAD
CA10162385 rs201292047	638	V>G		No	ClinGen ExAC gnomAD
rs796665699 CA322816784	638	V>M		No	ClinGen TOPMed
rs748939232 CA10162386	639	V>G		No	ClinGen ExAC gnomAD
rs761631981 CA10162389	640	L>F		No	ClinGen ExAC
rs773969250 CA10162388	640	L>S		No	ClinGen ExAC gnomAD
CA10162392 rs561231136	643	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA10162394 rs752901613	646	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764070942 CA10162396	649	V>M		No	ClinGen ExAC TOPMed gnomAD
CA411020341 rs1178392073	652	E>G		No	ClinGen TOPMed
CA411020337 rs1405553145	652	E>K		No	ClinGen TOPMed
rs1429201834 CA411020349	653	D>G		No	ClinGen gnomAD
CA411020362 rs1371320486	655	I>V		No	ClinGen gnomAD
CA10162398 rs757676977	657	K>E		No	ClinGen ExAC gnomAD
CA411020397 rs781687221	659	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA10162400 rs746384139	660	V>L		No	ClinGen ExAC gnomAD
CA10162401 rs746384139	660	V>M		No	ClinGen ExAC gnomAD
CA10162402 rs780458720	663	E>K		No	ClinGen ExAC gnomAD
CA10162404 COSM259143 rs150114413	665	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs748926529 CA10162403	665	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1295470837 CA411020435	666	I>L		No	ClinGen TOPMed gnomAD
VAR_043339 CA322816877 rs586542	671	Q>H		No	ClinGen UniProt dbSNP gnomAD
CA10162416 rs761891058	677	N>D		No	ClinGen ExAC gnomAD
rs767495936 CA10162417	678	S>G		No	ClinGen ExAC gnomAD
CA411023447 rs1185222899	678	S>I		No	ClinGen TOPMed gnomAD
rs1185222899 CA411023443	678	S>N		No	ClinGen TOPMed gnomAD
CA10162418 rs750921218	680	I>L		No	ClinGen ExAC gnomAD
rs780374550 CA10162420	685	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411023554 rs1317782112	686	G>D		No	ClinGen gnomAD
COSM1032953 rs773150235 CA10162421	686	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs371326790 CA411023561	687	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162424 rs201856091	687	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10162423 rs201856091	687	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1211422692 CA411023563	688	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10162426 rs777492243	689	V>I		No	ClinGen ExAC gnomAD
TCGA novel	690	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162427 rs376430157	690	M>V		No	ClinGen ESP ExAC gnomAD
CA411023584 rs1178770649	691	P>S		No	ClinGen TOPMed gnomAD
CA322836746 rs1039945840	693	I>V		No	ClinGen TOPMed
CA411023615 rs1459410220	695	G>E		No	ClinGen TOPMed
CA411023635 rs1408480599	698	L>F		No	ClinGen gnomAD
rs771044075 CA10162428	700	N>D		No	ClinGen ExAC gnomAD
TCGA novel	700	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200138174 CA10162429	700	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA411023652 rs1396292922	701	S>G		No	ClinGen gnomAD
rs376290581 CA322836791	702	G>D		No	ClinGen ESP TOPMed gnomAD
CA10162431 rs769487385	706	L>M		No	ClinGen ExAC gnomAD
CA10162432 rs774563911	707	Y>C		No	ClinGen ExAC gnomAD
CA411023705 rs774563911	707	Y>S		No	ClinGen ExAC gnomAD
rs1569469929 CA411023737	710	T>A		No	ClinGen Ensembl
CA10162433 rs762003952 COSM211027	710	T>M	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA411023791 rs1237676820	714	T>I		No	ClinGen TOPMed
TCGA novel	714	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411023785 rs1601546572	714	T>P		No	ClinGen Ensembl
CA411023861 rs1307352359	719	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1266388680 CA411023873	720	D>G		No	ClinGen TOPMed
rs1244603219 CA411023889	721	P>R		No	ClinGen TOPMed
CA10162437 rs766830199	725	I>L		No	ClinGen ExAC gnomAD
rs866415012 CA322836833	727	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1319517212 CA411023966	728	K>E		No	ClinGen TOPMed
CA411023981 rs1311061349	729	G>D		No	ClinGen TOPMed
rs866736460 CA322836835	729	G>S		No	ClinGen Ensembl
CA322836839 rs267606208	734	M>I		No	ClinGen Ensembl
CA411024039 rs1447091989	734	M>V		No	ClinGen TOPMed
rs543696703 CA10162438	737	I>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	739	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1714230 rs574275567 CA10162452	746	S>L	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10162456 COSM1415345 rs766461805	750	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1343963934 CA411025262	754	G>V		No	ClinGen TOPMed
rs777131003 CA10162457	756	K>E		No	ClinGen ExAC gnomAD
rs760027969 CA10162458	756	K>R		No	ClinGen ExAC gnomAD
CA10162460 rs765621865	757	T>N		No	ClinGen ExAC TOPMed gnomAD
CA10162459 rs765621865	757	T>S		No	ClinGen ExAC TOPMed gnomAD
rs375559047 CA10162461	758	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601570237 CA411025282	758	T>P		No	ClinGen Ensembl
CA10162462 rs200745477	760	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs199970754 COSM1415346 CA10162463	761	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA411025318 rs780913031	763	L>F		No	ClinGen ExAC gnomAD
rs1601570382 CA411025325	764	V>G		No	ClinGen Ensembl
rs1270670851 CA411025322	764	V>L		No	ClinGen gnomAD
COSM1565982 CA10162467 rs756050832	765	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs745800880 CA10162466	765	R>W		No	ClinGen ExAC TOPMed gnomAD
CA322842748 rs137881901	766	G>E		No	ClinGen ESP TOPMed gnomAD
rs1371077826 CA411025342	768	R>K		No	ClinGen gnomAD
TCGA novel	771	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411025381 rs1287376907	773	C>Y		No	ClinGen gnomAD
rs1476256952 CA411025394	775	P>S		No	ClinGen gnomAD
CA411025399 rs748996632	776	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10162469 COSM183890 rs748996632	776	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768459906 CA10162470	778	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200709491 CA322842770	779	I>T		No	ClinGen gnomAD
CA10162473 rs375640180 COSM478826	780	V>M	kidney Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1164464991 CA411025438	782	S>N		No	ClinGen gnomAD
rs776099807 CA10162477	783	D>A		No	ClinGen ExAC
CA10162476 rs760067432	783	D>H		No	ClinGen ExAC
rs760067432 CA10162475	783	D>N		No	ClinGen ExAC
CA411025450 rs1360444410	784	T>I		No	ClinGen TOPMed
rs763362752 CA10162478	784	T>P		No	ClinGen ExAC gnomAD
CA10162480 rs751250061	785	L>P		No	ClinGen ExAC gnomAD
rs144838560 CA10162483	786	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162482 rs767027546	786	T>P		No	ClinGen ExAC gnomAD
CA411025497 rs1355849738	791	L>F		No	ClinGen gnomAD
COSM1714232 CA411025512 rs1232513307	793	W>*	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs755681550 CA10162484	795	S>G		No	ClinGen ExAC TOPMed
rs1358991471 CA411025533	796	D>N		No	ClinGen TOPMed
rs778748771 CA10162489	801	E>A		No	ClinGen ExAC TOPMed gnomAD
CA10162487 rs367783225	801	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs778748771 CA10162488	801	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	805	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411026402 rs1462400623	808	D>G		No	ClinGen TOPMed
CA411026395 rs1170747224	808	D>N		No	ClinGen gnomAD
CA322845408 rs868066098	810	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1327744517 CA411026491	812	V>A		No	ClinGen TOPMed gnomAD
rs1327744517 CA411026490	812	V>G		No	ClinGen TOPMed gnomAD
CA411026494 rs1374250696	813	D>Y		No	ClinGen gnomAD
CA411026519 rs1442694065	814	H>P		No	ClinGen gnomAD
CA322845409 rs865885210	814	H>Y		No	ClinGen Ensembl
rs1176207823 CA411026576	816	T>S		No	ClinGen TOPMed
COSM183891 rs762219064 CA10162515	820	S>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs968339716 CA322845456	821	D>H		No	ClinGen Ensembl
rs978457282 CA322845457	822	P>L		No	ClinGen TOPMed
rs760443816 CA10162518	829	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1601587524 CA411026698	829	T>P		No	ClinGen Ensembl
CA411026763 rs1257627114	834	C>W		No	ClinGen gnomAD
rs58982553 CA322845464	834	C>Y		No	ClinGen Ensembl
rs753394632 CA10162520	835	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10162521 rs759439460	836	P>S		No	ClinGen ExAC gnomAD
rs1010744540 CA322845485	837	G>S		No	ClinGen TOPMed
CA411026867 rs1196655571	843	S>G		No	ClinGen TOPMed gnomAD
CA411026876 rs1374775824	843	S>R		No	ClinGen gnomAD
CA10162523 rs752657976	844	S>P		No	ClinGen ExAC gnomAD
rs758073650 CA10162524	847	T>I		No	ClinGen ExAC gnomAD
CA411026915 rs1601587648	847	T>P		No	ClinGen Ensembl
rs1601587682 CA411026945	849	Y>S		No	ClinGen Ensembl
rs1462638705 CA411026957	850	S>G		No	ClinGen gnomAD
CA411026965 rs1394271306	850	S>N		No	ClinGen gnomAD
rs1452743056 CA411026967	850	S>R		No	ClinGen gnomAD
rs369993825 CA10162525	851	R>C		No	ClinGen ESP ExAC gnomAD
rs750594166 CA10162526	851	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10162527 rs756406077	853	T>I		No	ClinGen ExAC gnomAD
CA411027011 rs1328747002	854	G>A		No	ClinGen TOPMed gnomAD
CA411027003 rs1299791158	854	G>R		No	ClinGen gnomAD
rs567315550 CA10162528	855	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1316451236 CA411027043	857	I>N		No	ClinGen TOPMed gnomAD
rs956171417 CA322845536	860	S>P		No	ClinGen Ensembl
CA10162531 rs779505302	861	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs922397962 CA322845537	861	R>H		No	ClinGen gnomAD
CA10162533 rs747914181	866	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10162551 rs777971751	867	S>L		No	ClinGen ExAC gnomAD
rs1158551523 CA411029268	868	E>D		No	ClinGen gnomAD
CA411029280 rs771310234	869	E>D		No	ClinGen ExAC gnomAD
rs1359233174 CA411029279	869	E>G		No	ClinGen gnomAD
rs776210705 CA10162555	873	C>G		No	ClinGen ExAC gnomAD
CA411029361 rs1601623995	875	N>T		No	ClinGen Ensembl
CA411029406 rs1237693810	880	E>K		No	ClinGen TOPMed gnomAD
CA411029446 rs1601624053	883	Y>H		No	ClinGen Ensembl
CA411029447 rs1601624066	883	Y>S		No	ClinGen Ensembl
CA411029465 rs1258491678	884	Q>L		No	ClinGen gnomAD
rs775027397 CA10162558	888	K>N		No	ClinGen ExAC gnomAD
CA411029509 rs1370819179	888	K>Q		No	ClinGen TOPMed
CA411029526 rs1211534775 COSM377611	889	R>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA411029536 rs1205653938	890	L>F		No	ClinGen gnomAD
CA10162559 rs762763817	891	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA411029550 rs762763817	891	Y>S		No	ClinGen ExAC TOPMed gnomAD
COSM726056 rs1389831884 CA411029578	894	G>R	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs774175245 CA10162561	896	S>F		No	ClinGen ExAC TOPMed gnomAD
rs774175245 CA411029609	896	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA10162562 rs761610549	898	T>A		No	ClinGen ExAC gnomAD
rs1453739404 CA411029701	903	E>G		No	ClinGen TOPMed
CA10162564 rs754107857	903	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754107857 CA322856150	903	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	906	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162566 rs765386596	907	L>F		No	ClinGen ExAC TOPMed gnomAD
CA411029738 rs765386596	907	L>V		No	ClinGen ExAC TOPMed gnomAD
CA411029743 rs1437067462	908	M>L		No	ClinGen gnomAD
rs1465214440 CA411029748	908	M>R		No	ClinGen TOPMed
CA411029787 rs1601624354	912	T>P		No	ClinGen Ensembl
rs778295774 COSM3764919 CA10162569	914	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752023482 CA322856168	914	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752023482 CA10162570	914	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1235035802 CA411029848	916	I>M		No	ClinGen TOPMed
TCGA novel	921	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162573 rs781608612	922	H>R		No	ClinGen ExAC gnomAD
rs745509860 CA10162574	923	W>C		No	ClinGen ExAC gnomAD
CA322856188 rs139248080	924	N>S		No	ClinGen ESP
CA10162576 rs762130870	925	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10162578 rs575877260	926	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA10162579 rs575877260	926	P>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	928	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454384550 CA411030043	929	V>M		No	ClinGen TOPMed gnomAD
rs772178040 CA10162603	934	Q>H		No	ClinGen ExAC gnomAD
rs202010195 CA411016474	940	A>G		No	ClinGen ExAC TOPMed gnomAD
rs202010195 CA10162604	940	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770757361 CA10162635	944	A>T		No	ClinGen ExAC gnomAD
rs376385912 CA10162636	946	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs376385912 CA10162637	946	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA322820538 rs1054071649	948	A>G		No	ClinGen TOPMed
rs1443424900 CA411016542	949	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	950	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776302111 CA322820542	950	T>M		No	ClinGen Ensembl
CA322820564 rs199913295	953	E>K		No	ClinGen gnomAD
CA411016566 rs199913295	953	E>Q		No	ClinGen gnomAD
CA10162645 rs200000489	954	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs200000489 CA10162646	954	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162643 rs532638980	954	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs200000489 CA10162644	954	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10162642 rs532638980	954	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA411016577 rs1568959154	955	G>E		No	ClinGen Ensembl
CA411016582 rs1284698473	956	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10162647 rs148666049	956	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	956	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757915915 CA10162649	957	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1601655703 CA411016600	958	A>V		No	ClinGen Ensembl
rs1568959213 CA411016604	959	L>P		No	ClinGen Ensembl
rs1337122548 CA411016602	959	L>V		No	ClinGen gnomAD
CA411016606 rs1202242026	960	A>T		No	ClinGen gnomAD
CA10162650 rs777496076	961	I>V		No	ClinGen ExAC TOPMed gnomAD
rs746932790 CA10162651	962	F>V		No	ClinGen ExAC gnomAD
CA411016627 rs1218555266	963	I>F		No	ClinGen TOPMed
CA10162652 rs757195212	964	P>L		No	ClinGen ExAC gnomAD
rs867145612 CA322820610	965	V>G		No	ClinGen Ensembl
CA411016639 rs1568959285	965	V>L		No	ClinGen Ensembl
CA411016643 rs1277180488	966	L>V		No	ClinGen gnomAD
rs1346118410 CA411016649	967	I>V		No	ClinGen gnomAD
rs1253259902 CA411016667	969	S>F		No	ClinGen TOPMed gnomAD
rs772123641 CA10162658	975	A>T		No	ClinGen ExAC gnomAD
rs773327961 CA10162659	975	A>V		No	ClinGen ExAC TOPMed gnomAD
rs898872057 CA411016702	976	Y>H		No	ClinGen TOPMed
CA322820621 rs898872057	976	Y>N		No	ClinGen TOPMed
rs771302651 CA10162661	980	T>K		No	ClinGen ExAC gnomAD
CA10162685 rs763804039	983	R>C		No	ClinGen ExAC TOPMed gnomAD
rs763804039 CA411016763	983	R>G		No	ClinGen ExAC TOPMed gnomAD
CA411016764 rs1386640839	983	R>H		No	ClinGen TOPMed gnomAD
rs1322222567 CA411016771	984	Y>C		No	ClinGen TOPMed gnomAD
CA322822042 rs943832672	985	Y>F		No	ClinGen Ensembl
rs761157651 CA411016791	987	N>S		No	ClinGen ExAC gnomAD
rs761157651 CA10162687	987	N>T		No	ClinGen ExAC gnomAD
CA10162688 rs767119242	988	L>F		No	ClinGen ExAC gnomAD
CA10162689 rs201269295	988	L>P		No	ClinGen ExAC gnomAD
rs565688176 CA10162691	989	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10162690 rs565688176	989	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753589170 CA10162693	989	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10162692 rs753589170	989	R>P		No	ClinGen ExAC TOPMed gnomAD
CA411016808 rs1207971746	991	P>S		No	ClinGen gnomAD
CA10162695 rs747260965	993	M>I		No	ClinGen ExAC gnomAD
rs1260798805 COSM3708184 CA411016852	997	P>L	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA411016851 rs1260798805	997	P>R		No	ClinGen TOPMed gnomAD
rs1217875209 CA411016854	998	Y>H		No	ClinGen TOPMed
CA411016858 rs1447443151	998	Y>S		No	ClinGen TOPMed
TCGA novel	1000	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10162700 rs776176343	1003	V>M		No	ClinGen ExAC TOPMed gnomAD
CA411016897 rs1162199913	1004	E>K		No	ClinGen gnomAD
rs1420860966 CA411016914	1006	E>A		No	ClinGen gnomAD
CA411016927 rs1297907702	1008	D>N		No	ClinGen gnomAD
rs190563242 CA322822144	1010	P>A		No	ClinGen 1000Genomes
rs1313772564 CA411016948	1011	I>F		No	ClinGen gnomAD
CA411016947 rs1313772564	1011	I>V		No	ClinGen gnomAD
CA10162704 rs761582151	1015	G>A		No	ClinGen ExAC gnomAD
TCGA novel	1018	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1019	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411017398 rs1289628674	1021	E>K		No	ClinGen TOPMed
CA411017408 rs1184163617	1022	V>F		No	ClinGen Ensembl
TCGA novel	1025	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9BYH1

8 regional properties for Q9BYH1

Type	Name	Position	InterPro Accession
domain	Sushi/SCR/CCP domain	391 - 450	IPR000436-1
domain	Sushi/SCR/CCP domain	565 - 626	IPR000436-2
domain	Sushi/SCR/CCP domain	743 - 802	IPR000436-3
domain	Sushi/SCR/CCP domain	804 - 867	IPR000436-4
domain	Sushi/SCR/CCP domain	871 - 932	IPR000436-5
domain	CUB domain	281 - 389	IPR000859-1
domain	CUB domain	452 - 562	IPR000859-2
domain	CUB domain	628 - 739	IPR000859-3

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a 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.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
regulation of protein kinase C signaling	Any process that modulates the frequency, rate, or extent of a series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound.
synapse maturation	The process that organizes a synapse so that it attains its fully functional state. Synaptic maturation plays a critical role in the establishment of effective synaptic connections in early development.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MPAARPPAAG	LRGISLFLAL	LLGSPAAALE	RDALPEGDAS	PLGPYLLPSG	APERGSPGKE
70	80	90	100	110	120
HPEERVVTAP	PSSSQSAEVL	GELVLDGTAP	SAHHDIPALS	PLLPEEARPK	HALPPKKKLP
130	140	150	160	170	180
SLKQVNSARK	QLRPKATSAA	TVQRAGSQPA	SQGLDLLSSS	TEKPGPPGDP	DPIVASEEAS
190	200	210	220	230	240
EVPLWLDRKE	SAVPTTPAPL	QISPFTSQPY	VAHTLPQRPE	PGEPGPDMAQ	EAPQEDTSPM
250	260	270	280	290	300
ALMDKGENEL	TGSASEESQE	TTTSTIITTT	VITTEQAPAL	CSVSFSNPEG	YIDSSDYPLL
310	320	330	340	350	360
PLNNFLECTY	NVTVYTGYGV	ELQVKSVNLS	DGELLSIRGV	DGPTLTVLAN	QTLLVEGQVI
370	380	390	400	410	420
RSPTNTISVY	FRTFQDDGLG	TFQLHYQAFM	LSCNFPRRPD	SGDVTVMDLH	SGGVAHFHCH
430	440	450	460	470	480
LGYELQGAKM	LTCINASKPH	WSSQEPICSA	PCGGAVHNAT	IGRVLSPSYP	ENTNGSQFCI
490	500	510	520	530	540
WTIEAPEGQK	LHLHFERLLL	HDKDRMTVHS	GQTNKSALLY	DSLQTESVPF	EGLLSEGNTI
550	560	570	580	590	600
RIEFTSDQAR	AASTFNIRFE	AFEKGHCYEP	YIQNGNFTTS	DPTYNIGTIV	EFTCDPGHSL
610	620	630	640	650	660
EQGPAIIECI	NVRDPYWNDT	EPLCRAMCGG	ELSAVAGVVL	SPNWPEPYVE	GEDCIWKIHV
670	680	690	700	710	720
GEEKRIFLDI	QFLNLSNSDI	LTIYDGDEVM	PHILGQYLGN	SGPQKLYSST	PDLTIQFHSD
730	740	750	760	770	780
PAGLIFGKGQ	GFIMNYIEVS	RNDSCSDLPE	IQNGWKTTSH	TELVRGARIT	YQCDPGYDIV
790	800	810	820	830	840
GSDTLTCQWD	LSWSSDPPFC	EKIMYCTDPG	EVDHSTRLIS	DPVLLVGTTI	QYTCNPGFVL
850	860	870	880	890	900
EGSSLLTCYS	RETGTPIWTS	RLPHCVSEES	LACDNPGLPE	NGYQILYKRL	YLPGESLTFM
910	920	930	940	950	960
CYEGFELMGE	VTIRCILGQP	SHWNGPLPVC	KVNQDSFEHA	LEVAEAAAET	SLEGGNMALA
970	980	990	1000	1010	1020
IFIPVLIISL	LLGGAYIYIT	RCRYYSNLRL	PLMYSHPYSQ	ITVETEFDNP	IYETGETREY

EVSI