AiPD: Autoinhibited Protein Database

Q7Z443

Gene name	PKD1L3
Protein name	Polycystic kidney disease protein 1-like 3
Names	PC1-like 3 protein, Polycystin-1L3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:342372
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

206-283 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

206-283 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q7Z443

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7Z443-F1	Predicted				AlphaFoldDB

1788 variants for Q7Z443

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000948521 rs149635567 RCV001543350	1232	T>missing	Essential tremor [ClinVar]	Yes	ClinVar dbSNP
TCGA novel	2	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8158465 rs757242083	2	F>V		No	ClinGen ExAC gnomAD
rs1185409330 CA396677178	3	F>C		No	ClinGen gnomAD
CA396677134 rs1476003663	5	G>*		No	ClinGen TOPMed gnomAD
CA396677127 rs766138456	5	G>A		No	ClinGen TOPMed gnomAD
CA396677131 rs766138456	5	G>E		No	ClinGen TOPMed gnomAD
CA283617900 rs766138456	5	G>V		No	ClinGen TOPMed gnomAD
rs865820680 CA283617898	6	G>R		No	ClinGen Ensembl
rs1257703735 CA396677102	7	S>C		No	ClinGen gnomAD
rs571087640 CA283617892	10	W>*		No	ClinGen 1000Genomes
rs1298377942 CA396677031	10	W>L		No	ClinGen TOPMed
rs1389139927 CA396677002	12	Y>H		No	ClinGen TOPMed
rs1484765260 CA396676976	13	I>L		No	ClinGen gnomAD
CA396676960 rs1262492503	14	R>G		No	ClinGen TOPMed gnomAD
CA283617853 rs56155181	14	R>K		No	ClinGen Ensembl
rs552833034 CA283617849	15	T>A		No	ClinGen 1000Genomes
CA396676926 rs1300903018	15	T>I		No	ClinGen TOPMed
rs180936435 CA283617840	16	S>T		No	ClinGen 1000Genomes
CA396676821 rs1292773524	20	G>V		No	ClinGen gnomAD
rs118109665 CA8158461	23	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396676720 rs72787027	26	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs72787027 CA8158460	26	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1357608644 CA396676731	26	P>S		No	ClinGen gnomAD
rs1382072028 CA396676702	27	A>G		No	ClinGen gnomAD
rs1194129356 CA396676712	27	A>P		No	ClinGen TOPMed
CA396676713 rs1194129356	27	A>T		No	ClinGen TOPMed
rs1049227635 CA283617806	28	P>L		No	ClinGen gnomAD
rs935635178 CA283617813	28	P>S		No	ClinGen TOPMed gnomAD
rs371698478 CA283617799	29	H>R		No	ClinGen ESP TOPMed gnomAD
CA396676664 rs1212046586	30	G>E		No	ClinGen gnomAD
CA283617791 rs919528710	34	C>S		No	ClinGen Ensembl
CA396676534 rs1462511086	37	L>P		No	ClinGen gnomAD
CA396676522 rs1393719229	38	N>T		No	ClinGen TOPMed
CA396676526 rs1368745091	38	N>Y		No	ClinGen TOPMed gnomAD
rs1488134341 CA396676463	41	Q>R		No	ClinGen gnomAD
rs760535589 CA8158458	44	F>S		No	ClinGen ExAC TOPMed gnomAD
CA396676371 rs1186840824	47	A>E		No	ClinGen gnomAD
CA396676379 rs1166771578	47	A>T		No	ClinGen TOPMed
TCGA novel	49	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396676330 rs1442943134	50	Y>*		No	ClinGen TOPMed
CA283617753 rs971660348	50	Y>S		No	ClinGen gnomAD
rs1211916337 CA396676314	51	C>W		No	ClinGen gnomAD
CA396676266 rs1266325597	55	R>G		No	ClinGen gnomAD
rs915595971 CA283617744	56	G>R		No	ClinGen gnomAD
CA8158456 rs771789542	57	F>L		No	ClinGen ExAC gnomAD
CA8158455 rs747613598	59	A>D		No	ClinGen ExAC gnomAD
rs1357641428 CA396676210	60	H>N		No	ClinGen TOPMed gnomAD
rs1296622911 CA396676180	62	W>R		No	ClinGen TOPMed
rs1324460328 CA396676154	63	N>K		No	ClinGen gnomAD
rs747703563 CA283617732	64	K>E		No	ClinGen gnomAD
rs775951073 CA8158454	64	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1167014931 CA396676130	65	E>D		No	ClinGen gnomAD
CA396676100 rs1225340493	68	D>H		No	ClinGen TOPMed
CA396676083 rs1374397291	69	L>V		No	ClinGen gnomAD
CA8158453 rs543246606	71	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543246606 CA396676055	71	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561561246 CA283617715	71	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs749798621 CA8158452	72	D>E		No	ClinGen ExAC gnomAD
rs1216166845 CA396676050	72	D>H		No	ClinGen TOPMed
CA396676029 rs1195250520	74	L>P		No	ClinGen gnomAD
CA8158451 rs780623449	74	L>V		No	ClinGen ExAC TOPMed gnomAD
CA396676024 rs1187418022	75	E>*		No	ClinGen TOPMed
rs1454225366 CA396676012	76	E>D		No	ClinGen TOPMed gnomAD
CA396676006 rs1337703923	77	G>A		No	ClinGen gnomAD
rs922037191 CA283617689	78	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs756365722 CA8158450	82	I>T		No	ClinGen ExAC gnomAD
rs1418025499 CA396675500	83	G>E		No	ClinGen TOPMed
CA283617671 rs976024738	83	G>R		No	ClinGen TOPMed
TCGA novel	84	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs111765058 RCV000947714	85	N>*		No	ClinVar dbSNP
CA396675437 rs1462498182	86	V>I		No	ClinGen gnomAD
rs1327641234 CA396675389	87	M>I		No	ClinGen gnomAD
rs1389106996 CA396675373	88	P>S		No	ClinGen TOPMed gnomAD
rs1433938011 CA396675338	89	L>W		No	ClinGen gnomAD
CA283617634 rs1029490954	91	K>N		No	ClinGen Ensembl
rs757444755 CA8158446	91	K>Q		No	ClinGen ExAC gnomAD
CA396675273 rs374446932	92	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8158445 rs374446932	92	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8158444 rs368433753	93	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs576163562 CA8158443	93	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8158442 rs753720789	95	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1026995730 CA283615933	101	V>G		No	ClinGen TOPMed gnomAD
CA396674785 rs1475021984	101	V>I		No	ClinGen TOPMed gnomAD
CA396674716 rs1212697633	103	A>V		No	ClinGen TOPMed gnomAD
rs1217202714 CA396674693	105	G>E		No	ClinGen TOPMed
rs370990703 CA8158429	105	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA396674668 rs1488992289	106	P>L		No	ClinGen TOPMed
CA396674683 rs1203867902	106	P>T		No	ClinGen gnomAD
TCGA novel	107	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323741343 CA396674667	107	P>T		No	ClinGen gnomAD
rs747223501 CA8158428	108	K>E		No	ClinGen ExAC
TCGA novel	109	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396674630 rs1330661027	109	P>S		No	ClinGen TOPMed gnomAD
CA8158427 rs571744065	110	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758410158 CA396674585	111	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8158426 rs758410158	111	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8158425 rs752855780	112	C>Y		No	ClinGen ExAC
rs1023177609 CA283615839	113	T>A		No	ClinGen TOPMed gnomAD
rs1023177609 CA396674533	113	T>P		No	ClinGen TOPMed gnomAD
rs1023177609 CA396674519	113	T>S		No	ClinGen TOPMed gnomAD
rs1294734427 CA396674487	114	Y>C		No	ClinGen gnomAD
rs1294734427 CA396674490	114	Y>S		No	ClinGen gnomAD
CA283615830 rs1012999004	115	L>M		No	ClinGen TOPMed
CA283615825 rs771793988	115	L>P		No	ClinGen TOPMed
CA396674434 rs1448572846	116	S>F		No	ClinGen gnomAD
CA283615820 rs895912788	118	N>K		No	ClinGen TOPMed
rs1300077219 CA396674403	118	N>S		No	ClinGen Ensembl
CA8158424 VAR_039453 rs16973585	120	I>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199784981 CA396674346	121	R>L		No	ClinGen TOPMed gnomAD
rs199784981 CA283615796	121	R>Q		No	ClinGen TOPMed gnomAD
rs756058192 CA8158422	121	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs999279996 CA283615758	122	I>M		No	ClinGen TOPMed gnomAD
rs902402043 CA283615753	123	S>L		No	ClinGen TOPMed gnomAD
rs1473353019 CA396674298	124	S>F		No	ClinGen TOPMed gnomAD
CA396674294 rs1263318533	125	K>E		No	ClinGen TOPMed
CA396674273 rs1358211630	127	D>H		No	ClinGen TOPMed
rs767406985 CA8158420	129	C>R		No	ClinGen ExAC gnomAD
CA396674234 rs767406985	129	C>S		No	ClinGen ExAC gnomAD
rs374517326 CA8158419	129	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA396674202 rs1192298658	130	L>*		No	ClinGen TOPMed gnomAD
CA283615738 rs1042687002	130	L>F		No	ClinGen TOPMed gnomAD
CA396674213 rs1269242992	130	L>I		No	ClinGen gnomAD
CA396674208 rs1192298658	130	L>S		No	ClinGen TOPMed gnomAD
CA8158418 rs141754070	131	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396674062 rs879026344	137	C>*		No	ClinGen gnomAD
CA283615726 rs879026344	137	C>W		No	ClinGen gnomAD
CA396674047 rs1198030157	138	Q>L		No	ClinGen gnomAD
rs989007017 CA283615711	139	T>S		No	ClinGen TOPMed gnomAD
CA396672230 rs1167897064	140	G>D		No	ClinGen TOPMed
rs1162356673 CA396674030	140	G>S		No	ClinGen TOPMed
rs954167964 CA283610262	141	D>E		No	ClinGen TOPMed gnomAD
rs771232169 CA396672229	141	D>N		No	ClinGen ExAC gnomAD
CA8158410 rs771232169	141	D>Y		No	ClinGen ExAC gnomAD
CA283610247 rs868680688	142	F>L		No	ClinGen Ensembl
TCGA novel	143	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780618557 CA8158409	145	G>*		No	ClinGen ExAC TOPMed gnomAD
CA283610222 rs780618557	145	G>R		No	ClinGen ExAC TOPMed gnomAD
CA396672166 rs1295390241	146	D>G		No	ClinGen gnomAD
rs1404084419 CA396672173	146	D>N		No	ClinGen TOPMed
CA283610204 rs1029644876	147	A>D		No	ClinGen TOPMed gnomAD
rs1029644876 CA396672153	147	A>V		No	ClinGen TOPMed gnomAD
CA396672147 rs1437195572	148	H>P		No	ClinGen gnomAD
CA396672131 rs1354173579	149	Y>*		No	ClinGen TOPMed gnomAD
CA396672138 rs1341358356	149	Y>H		No	ClinGen TOPMed
CA396672109 rs1339316090	151	R>I		No	ClinGen TOPMed
CA396672110 rs1339316090	151	R>T		No	ClinGen TOPMed
CA396672097 rs1210920852	152	N>S		No	ClinGen TOPMed
rs1432061896 CA396672087	153	G>*		No	ClinGen TOPMed gnomAD
CA396672046 rs1453150396	157	H>D		No	ClinGen gnomAD
CA283610175 rs1045246491	157	H>Q		No	ClinGen TOPMed gnomAD
CA396671998 rs1191282988	161	R>*		No	ClinGen gnomAD
CA396671991 rs1480019620	161	R>S		No	ClinGen gnomAD
CA396671989 rs1436094154	162	H>D		No	ClinGen gnomAD
CA396671982 rs1371957472	162	H>P		No	ClinGen TOPMed
rs946480269 CA283610173	162	H>Q		No	ClinGen Ensembl
CA8158405 rs779019786	163	K>*		No	ClinGen ExAC gnomAD
rs893632711 CA283610171	165	T>A		No	ClinGen Ensembl
rs1206815385 CA396671959	165	T>R		No	ClinGen gnomAD
CA396671946 rs1164980533	167	R>T		No	ClinGen TOPMed
rs1196597539 CA396671933	169	V>D		No	ClinGen TOPMed gnomAD
rs1279371066 CA396671935	169	V>L		No	ClinGen gnomAD
rs779499857 CA396671927	170	A>E		No	ClinGen TOPMed
rs779499857 CA396671926	170	A>G		No	ClinGen TOPMed
rs1208405157 CA396671930	170	A>T		No	ClinGen gnomAD
rs779499857 CA283610163	170	A>V		No	ClinGen TOPMed
CA283610155 rs1004839750	172	A>G		No	ClinGen TOPMed
CA8158404 rs755079450	172	A>S		No	ClinGen ExAC gnomAD
CA396671917 rs755079450	172	A>T		No	ClinGen ExAC gnomAD
CA8158403 rs750316358	176	M>I		No	ClinGen ExAC gnomAD
CA283610123 rs887574976	177	P>L		No	ClinGen TOPMed
CA396671881 rs1372663270	177	P>S		No	ClinGen TOPMed gnomAD
CA396671883 rs1372663270	177	P>T		No	ClinGen TOPMed gnomAD
rs1325883194 CA396671873	178	P>L		No	ClinGen TOPMed
CA283650871 rs1001686691	180	P>L		No	ClinGen TOPMed
CA396724757 rs1416787506	181	G>C		No	ClinGen gnomAD
rs1416787506 CA396724759	181	G>S		No	ClinGen gnomAD
rs868259801 CA283650869	183	L>F		No	ClinGen TOPMed gnomAD
rs868259801 CA396724744	183	L>V		No	ClinGen TOPMed gnomAD
CA283650866 rs1007791606	185	T>P		No	ClinGen TOPMed gnomAD
rs1256625805 CA396724724	186	T>I		No	ClinGen gnomAD
CA8158391 rs374916134	189	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA283650862 rs768500082	189	Y>C		No	ClinGen Ensembl
rs1249754689 CA396724696	190	P>L		No	ClinGen gnomAD
CA8158390 rs772468325	191	L>F		No	ClinGen ExAC TOPMed gnomAD
CA396724694 rs772468325	191	L>V		No	ClinGen ExAC TOPMed gnomAD
CA396724679 rs1446602561	193	A>V		No	ClinGen TOPMed
CA283650855 rs371937366	194	H>Y		No	ClinGen ESP TOPMed gnomAD
CA396724671 rs1322704270	195	L>I		No	ClinGen gnomAD
CA396723921 rs1453752479	196	S>C		No	ClinGen gnomAD
CA283649313 rs1042712339	196	S>P		No	ClinGen gnomAD
rs754474470 CA8158378	197	K>E		No	ClinGen ExAC gnomAD
CA8158377 rs560446212	198	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396723896 rs560446212	198	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560446212 CA8158376	198	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396723866 rs1195411851	201	H>R		No	ClinGen TOPMed gnomAD
rs1052819344 CA283649286	202	P>S		No	ClinGen gnomAD
CA396723859 rs1052819344	202	P>T		No	ClinGen gnomAD
CA396723850 rs1567548303	203	I>V		No	ClinGen Ensembl
CA396723823 rs943854548	205	Q>*		No	ClinGen gnomAD
rs912396359 CA283649279	205	Q>H		No	ClinGen TOPMed gnomAD
rs943854548 CA283649282	205	Q>K		No	ClinGen gnomAD
rs368326487 CA8158374	207	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA396723799 rs1273568233	207	P>S		No	ClinGen gnomAD
rs1331152780 CA396723786	208	S>*		No	ClinGen gnomAD
CA8158373 rs767911143	209	V>E		No	ClinGen ExAC gnomAD
TCGA novel	209	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308412769 CA396723761	211	S>*		No	ClinGen gnomAD
CA8158372 VAR_039454 rs4788591	211	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396723764 rs4788591	211	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1051834513 CA283649269	213	I>V		No	ClinGen TOPMed
rs1597369216 CA396723732	214	T>A		No	ClinGen Ensembl
rs371044810 CA283649266	215	S>T		No	ClinGen ESP TOPMed
CA396723706 rs1483895709	216	Q>P		No	ClinGen TOPMed
CA396723698 rs1400053019	217	V>L		No	ClinGen gnomAD
CA8158371 rs774592667	218	T>I		No	ClinGen ExAC gnomAD
TCGA novel	218	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377673240 CA8158369	219	S>*		No	ClinGen ExAC TOPMed gnomAD
CA8158370 rs377673240	219	S>L		No	ClinGen ExAC TOPMed gnomAD
CA396723673 rs993419700	220	A>S		No	ClinGen TOPMed gnomAD
rs993419700 CA283649247	220	A>T		No	ClinGen TOPMed gnomAD
CA396723662 rs1471736983	221	A>T		No	ClinGen gnomAD
CA396723649 rs1183427781	222	S>C		No	ClinGen TOPMed gnomAD
CA396723635 rs1597369129	223	E>D		No	ClinGen Ensembl
rs770062840 CA396723626	224	P>H		No	ClinGen ExAC gnomAD
rs770062840 CA8158367	224	P>L		No	ClinGen ExAC gnomAD
CA396723628 rs1355588628	224	P>S		No	ClinGen TOPMed
CA8158365 rs148277268	227	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396723576 rs1259659426	228	P>R		No	ClinGen gnomAD
rs1306501532 CA396723582	228	P>S		No	ClinGen TOPMed
rs750001097 CA283649228	229	L>H		No	ClinGen Ensembl
rs963315868 CA283649230	229	L>V		No	ClinGen gnomAD
CA396723552 rs764826347	231	V>L		No	ClinGen TOPMed gnomAD
CA283649226 rs764826347	231	V>M		No	ClinGen TOPMed gnomAD
CA8158364 rs758149621	232	I>M		No	ClinGen ExAC gnomAD
rs1338452123 CA396723533	233	T>A		No	ClinGen gnomAD
RCV000918557 rs764717427	234	Q>missing		No	ClinVar dbSNP
CA8158363 CA396723515 rs375852265	234	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336143212 CA396723513	235	L>V		No	ClinGen gnomAD
CA283649207 rs983498397 CA396723481	237	M>I		No	ClinGen TOPMed
rs143164268 CA396723490	237	M>L		No	ClinGen 1000Genomes gnomAD
CA283649212 rs143164268	237	M>V		No	ClinGen 1000Genomes gnomAD
rs778582001 CA8158360	238	P>H		No	ClinGen ExAC TOPMed gnomAD
CA396723471 rs778582001	238	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1202778097 CA396723475	238	P>S		No	ClinGen TOPMed
rs1035808747 CA396723467	239	V>L		No	ClinGen TOPMed gnomAD
rs1035808747 CA283649199	239	V>M		No	ClinGen TOPMed gnomAD
CA8158358 rs559033487	240	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8158356 rs369318474	242	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8158357 rs369318474	242	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396723425 rs1274733482	243	H>R		No	ClinGen TOPMed gnomAD
CA396723414 rs1206341700	244	A>T		No	ClinGen gnomAD
CA8158355 rs761623878	244	A>V		No	ClinGen ExAC TOPMed gnomAD
rs117071849 CA8158354	246	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353760644 CA396723381	247	S>A		No	ClinGen gnomAD
CA396723377 rs1285739028	247	S>C		No	ClinGen TOPMed gnomAD
CA396723375 rs1285739028	247	S>F		No	ClinGen TOPMed gnomAD
CA396723324 rs1325844138	252	T>I		No	ClinGen gnomAD
CA283649178 rs891428456	252	T>P		No	ClinGen Ensembl
CA8158353 rs375137726	253	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA396723300 rs774556352	254	S>R		No	ClinGen ExAC gnomAD
CA396723289 rs1390903422	255	P>L		No	ClinGen gnomAD
CA283649173 rs990115217	255	P>S		No	ClinGen TOPMed
CA396723286 rs1211375512	256	K>E		No	ClinGen TOPMed
rs958297008 CA396723258	258	E>*		No	ClinGen TOPMed
rs764557124 CA8158351	258	E>D		No	ClinGen ExAC gnomAD
rs958297008 CA283649167	258	E>K		No	ClinGen TOPMed
CA283649163 rs570871025	259	G>S		No	ClinGen TOPMed gnomAD
rs1007971640 CA283649161	260	H>D		No	ClinGen TOPMed gnomAD
rs1390171055 CA396723238	260	H>P		No	ClinGen TOPMed gnomAD
CA8158350 rs547302170	261	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396723222 rs547302170	261	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	261	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389990931 CA396723229	261	P>T		No	ClinGen TOPMed
CA396723214 rs1388147060	262	N>S		No	ClinGen TOPMed
CA396723196 rs1248128645	264	F>I		No	ClinGen gnomAD
rs775908561 CA8158349	265	T>A		No	ClinGen ExAC gnomAD
CA283649155 rs1049560055	265	T>I		No	ClinGen TOPMed gnomAD
rs1392374393 CA396723158	267	Y>C		No	ClinGen gnomAD
CA8158346 rs188949824	269	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1230554181 CA396723128	269	Q>H		No	ClinGen TOPMed gnomAD
rs1295384927 CA396723133	269	Q>R		No	ClinGen gnomAD
rs184803108 CA8158345	270	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1298424890 CA396723100	272	L>F		No	ClinGen gnomAD
CA396723084 rs12708923	274	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_039455 CA8158344 rs12708923	274	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8158343 rs778542750	275	A>T		No	ClinGen ExAC gnomAD
rs149510985 CA8158342	276	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA8158341 rs138157976	277	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534903002 CA8158334	279	V>I		No	ClinGen 1000Genomes ExAC
CA396722392 rs1371790752	280	I>T		No	ClinGen gnomAD
CA283648096 rs527336661	280	I>V		No	ClinGen TOPMed gnomAD
rs979432037 CA283648090	281	D>H		No	ClinGen TOPMed gnomAD
CA283648086 rs1028428165	282	E>D		No	ClinGen TOPMed gnomAD
CA396722354 rs763420166	283	I>R		No	ClinGen ExAC TOPMed gnomAD
CA8158333 rs763420166	283	I>T		No	ClinGen ExAC TOPMed gnomAD
CA396722341 rs1339978956	284	A>V		No	ClinGen TOPMed
rs975580752 CA283648079	285	G>R		No	ClinGen TOPMed
rs1567545422 CA396722322	286	N>S		No	ClinGen Ensembl
rs1472064358 CA396722279	289	R>S		No	ClinGen gnomAD
CA283648075 rs965424976	290	A>E		No	ClinGen TOPMed gnomAD
CA396722273 rs1249088633	290	A>P		No	ClinGen gnomAD
rs189703340 CA8158331	291	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8158330 rs113537540	293	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	294	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	297	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283648070 rs754589341	297	L>P		No	ClinGen gnomAD
CA396722178 rs1261961607	298	N>K		No	ClinGen TOPMed
CA283648067 rs991111703	298	N>S		No	ClinGen Ensembl
CA396722154 rs1328816786	300	L>R		No	ClinGen gnomAD
CA396722160 rs1189360181	300	L>V		No	ClinGen TOPMed
CA396722144 rs1412110102	301	Q>R		No	ClinGen gnomAD
rs1302587503 CA396722137	302	E>K		No	ClinGen gnomAD
CA396722099 rs1441636553	304	C>W		No	ClinGen gnomAD
CA283648048 rs959628917	306	F>L		No	ClinGen gnomAD
rs1361341142 CA396722079	306	F>S		No	ClinGen gnomAD
CA283648034 rs979100560	308	Q>*		No	ClinGen TOPMed gnomAD
rs1360062000 CA396722050	308	Q>H		No	ClinGen TOPMed
rs1160880704 CA396722054	308	Q>R		No	ClinGen TOPMed gnomAD
CA396722028 rs1411517868	310	L>V		No	ClinGen gnomAD
rs1472821933 CA396722019	311	T>A		No	ClinGen gnomAD
rs1415544449 CA396722013	311	T>R		No	ClinGen TOPMed
rs1179861157 CA396722004	312	A>D		No	ClinGen gnomAD
CA8158327 rs368094835	312	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1484195839 CA396721980	314	T>I		No	ClinGen TOPMed gnomAD
rs1484195839 CA396721983	314	T>N		No	ClinGen TOPMed gnomAD
CA396721959 rs1172987111	316	R>I		No	ClinGen gnomAD
rs1204465846 CA396721932	318	S>C		No	ClinGen gnomAD
CA283648019 rs1020753368	318	S>P		No	ClinGen Ensembl
CA396721924 rs1353312476	319	K>E		No	ClinGen TOPMed
rs1328540346 CA396721917	319	K>N		No	ClinGen gnomAD
rs1266525335 CA396721902	321	A>T		No	ClinGen gnomAD
rs1044239630 CA283648008	322	Q>H		No	ClinGen TOPMed gnomAD
CA283648016 rs997665108	322	Q>R		No	ClinGen TOPMed gnomAD
CA8158305 rs753138849	325	L>F		No	ClinGen ExAC TOPMed gnomAD
rs568029021 CA283646955	326	I>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs990480822 CA283646961	326	I>T		No	ClinGen TOPMed gnomAD
CA8158303 rs531556289	327	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396721369 rs1429198949	328	S>C		No	ClinGen gnomAD
rs1429198949 CA396721368	328	S>F		No	ClinGen gnomAD
rs928204420 CA283646948	329	L>R		No	ClinGen TOPMed
rs969711542 CA283646949	329	L>V		No	ClinGen Ensembl
rs1244650141 CA396721350	331	Y>*		No	ClinGen TOPMed
CA283646942 rs550799192	331	Y>H		No	ClinGen Ensembl
CA396721356 rs550799192	331	Y>N		No	ClinGen Ensembl
rs754157777 CA8158302	332	L>V		No	ClinGen ExAC TOPMed gnomAD
CA283646941 rs914038343	333	S>T		No	ClinGen TOPMed
rs1312085132 CA396721338	334	E>K		No	ClinGen gnomAD
CA396721328 rs1204800339	335	E>*		No	ClinGen gnomAD
rs1204800339 CA396721330	335	E>K		No	ClinGen gnomAD
CA396721307 rs1227572299	338	R>K		No	ClinGen TOPMed gnomAD
rs989638486 CA283646928	338	R>S		No	ClinGen TOPMed
rs1277379240 CA396721308	338	R>W		No	ClinGen TOPMed gnomAD
CA396721302 rs1329979472	339	I>V		No	ClinGen gnomAD
rs1298500286 CA396721295	340	P>A		No	ClinGen gnomAD
CA396721291 rs1432560440	340	P>L		No	ClinGen gnomAD
rs368518772 CA8158301	341	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1017684143 CA283646923	343	N>D		No	ClinGen TOPMed gnomAD
CA8158300 rs186484429	344	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396721264 rs186484429	344	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370041301 CA8158299	345	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA396721254 rs1168391371	346	S>R		No	ClinGen TOPMed gnomAD
rs1567542885 CA396721245	347	L>V		No	ClinGen Ensembl
CA8158296 rs762926638	348	G>D		No	ClinGen ExAC gnomAD
CA396721225 rs775232184	350	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8158295 rs775232184	350	K>T		No	ClinGen ExAC TOPMed gnomAD
CA396721219 rs1269795896	351	V>A		No	ClinGen gnomAD
CA283646884 rs998489876	351	V>I		No	ClinGen TOPMed
CA396721212 rs1254655322	352	P>L		No	ClinGen gnomAD
rs769642663 CA8158294	352	P>S		No	ClinGen ExAC gnomAD
rs1196908653 CA396721210	353	P>A		No	ClinGen TOPMed gnomAD
rs1196908653 CA396721209	353	P>S		No	ClinGen TOPMed gnomAD
CA283646872 rs891044611	354	T>A		No	ClinGen TOPMed gnomAD
rs745491674 CA8158293	354	T>I		No	ClinGen ExAC gnomAD
TCGA novel	354	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283646865 rs527846134	355	V>I		No	ClinGen 1000Genomes gnomAD
rs1187692492 CA396721190	356	C>*		No	ClinGen TOPMed gnomAD
rs1287322510 CA396721194	356	C>G		No	ClinGen gnomAD
rs770278231 CA8158291	357	P>L		No	ClinGen ExAC gnomAD
CA396721185 rs770278231	357	P>R		No	ClinGen ExAC gnomAD
rs149058043 CA8158292	357	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1484886192 CA396721170	359	H>Q		No	ClinGen gnomAD
rs1283163837 CA396721160	361	L>F		No	ClinGen gnomAD
CA396721152 rs1395413410	362	N>S		No	ClinGen gnomAD
CA283646841 rs778378343	365	T>I		No	ClinGen ExAC TOPMed gnomAD
rs778378343 CA8158289	365	T>S		No	ClinGen ExAC TOPMed gnomAD
CA396721128 rs1170905933	366	K>*		No	ClinGen gnomAD
CA396721126 rs1470989406	366	K>R		No	ClinGen TOPMed gnomAD
CA396721127 rs1470989406	366	K>T		No	ClinGen TOPMed gnomAD
rs758954456 CA8158288	367	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1054890329 CA283646838	367	A>P		No	ClinGen TOPMed gnomAD
CA283646818 rs937633340	368	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396721114 rs937633340	368	G>V		No	ClinGen TOPMed gnomAD
rs1365947282 CA396721103	370	G>R		No	ClinGen gnomAD
CA396721079 rs1439704400	372	W>*		No	ClinGen TOPMed
CA283646817 rs907924675	372	W>R		No	ClinGen gnomAD
CA283646815 rs1048372142	374	E>Q		No	ClinGen Ensembl
CA396721027 rs1182899138	375	S>F		No	ClinGen gnomAD
CA396721017 rs1442366380	376	K>R		No	ClinGen TOPMed gnomAD
rs1205092662 CA396720996	377	R>C		No	ClinGen TOPMed gnomAD
CA8158286 rs144913223	377	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396720998 rs1205092662	377	R>S		No	ClinGen TOPMed gnomAD
rs1597361835 CA396720955	379	T>S		No	ClinGen Ensembl
rs755451898 CA8158285	381	P>L		No	ClinGen ExAC TOPMed gnomAD
CA283646804 rs928913057	381	P>S		No	ClinGen TOPMed gnomAD
CA283645540 rs1031625997	382	V>E		No	ClinGen TOPMed gnomAD
rs1476105507 CA396720203	383	E>K		No	ClinGen gnomAD
rs1365215321 CA396720191	384	D>E		No	ClinGen TOPMed
CA283645535 rs542358149	384	D>H		No	ClinGen gnomAD
CA396720183 rs775881644	385	I>M		No	ClinGen TOPMed
CA396720189 rs1449476289	385	I>V		No	ClinGen gnomAD
rs903741999 CA283645529	388	M>T		No	ClinGen TOPMed
rs1000193443 CA283645530	388	M>V		No	ClinGen TOPMed gnomAD
rs1266937409 CA396720151	390	L>F		No	ClinGen TOPMed
CA283645527 rs997368857	391	V>A		No	ClinGen gnomAD
rs1597358545 CA396720147	391	V>L		No	ClinGen Ensembl
rs1212927808 CA396720140	392	E>G		No	ClinGen gnomAD
rs1272387388 CA396720143	392	E>K		No	ClinGen gnomAD
rs1272387388 CA396720142	392	E>Q		No	ClinGen gnomAD
rs1364151332 CA396720132	393	F>S		No	ClinGen TOPMed gnomAD
rs1329490085 CA396720121	395	N>D		No	ClinGen gnomAD
rs568840847 CA283645518	396	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA8158274 rs770642670	397	G>R		No	ClinGen ExAC gnomAD
rs1417970038 CA396720090	399	A>V		No	ClinGen TOPMed
CA8158273 rs746692922	400	F>L		No	ClinGen ExAC TOPMed gnomAD
CA396720082 rs1171416805	401	L>I		No	ClinGen gnomAD
rs1270581200 CA396720068	403	Q>*		No	ClinGen gnomAD
rs1351914431 CA396720065	403	Q>R		No	ClinGen TOPMed
CA396720060 rs1199969716	404	N>D		No	ClinGen TOPMed gnomAD
rs867378515 CA396720032	408	E>*		No	ClinGen TOPMed gnomAD
rs867378515 CA283645502	408	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs867378515 CA396720033	408	E>Q		No	ClinGen TOPMed gnomAD
CA396720023 rs1307961709	409	S>F		No	ClinGen TOPMed gnomAD
CA8158271 rs771779497	410	S>P		No	ClinGen ExAC gnomAD
CA396719999 rs1218659178	413	L>W		No	ClinGen gnomAD
CA396719983 rs1285424002	416	A>P		No	ClinGen gnomAD
CA396719979 rs1405976854	416	A>V		No	ClinGen gnomAD
CA283645485 rs557582660	417	N>S		No	ClinGen 1000Genomes TOPMed
rs1037181145 CA396719961	419	T>I		No	ClinGen gnomAD
rs1037181145 CA283645482	419	T>N		No	ClinGen gnomAD
rs749518071 CA8158270	420	L>P		No	ClinGen ExAC TOPMed gnomAD
rs779577069 CA396719953	421	L>P		No	ClinGen ExAC TOPMed gnomAD
rs779577069 CA8158269	421	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1381407012 CA396719944	423	S>N		No	ClinGen TOPMed gnomAD
rs1332996675 CA396719937	424	R>K		No	ClinGen TOPMed gnomAD
rs1446316357 CA396719922	424	R>S		No	ClinGen TOPMed gnomAD
CA396719919 rs1245074971	425	Q>*		No	ClinGen TOPMed gnomAD
CA396719920 rs1245074971	425	Q>E		No	ClinGen TOPMed gnomAD
CA8158256 rs776468389	425	Q>L		No	ClinGen ExAC
rs1204321457 CA396719900	427	I>M		No	ClinGen gnomAD
rs1352037898 CA396719897	428	S>*		No	ClinGen TOPMed
rs1352037898 CA396719895	428	S>L		No	ClinGen TOPMed
rs531080648 CA283645392	428	S>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs7185272 CA396719891	429	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283645389 rs993046156	429	T>P		No	ClinGen TOPMed gnomAD
rs7185272 CA8158254 VAR_039456	429	T>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs544403622 CA396719883	431	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8158252 rs773060329	431	P>L		No	ClinGen ExAC TOPMed gnomAD
rs544403622 CA8158253	431	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751168658 CA283645369	432	L>P		No	ClinGen TOPMed gnomAD
rs376138739 CA396719868	433	S>R		No	ClinGen ESP TOPMed gnomAD
rs1439905762 CA396719871	433	S>T		No	ClinGen TOPMed
rs1478125112 CA396719862	434	S>F		No	ClinGen TOPMed
CA396719854 CA396719855 rs1433691586	435	Y>*		No	ClinGen TOPMed gnomAD
CA396719860 rs1229023956	435	Y>H		No	ClinGen gnomAD
CA8158250 rs765978427	436	T>A		No	ClinGen ExAC TOPMed gnomAD
CA283645363 rs765978427	436	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8158248 rs769229379	437	L>V		No	ClinGen ExAC
rs1398456653 CA396719835	439	H>R		No	ClinGen TOPMed
rs1454165648 CA396719837	439	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	440	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396719827 rs1161398639	440	P>R		No	ClinGen gnomAD
CA396719829 rs1349113973	440	P>S		No	ClinGen gnomAD
CA396719822 rs900447573	441	A>D		No	ClinGen TOPMed
rs900447573 CA283645360	441	A>V		No	ClinGen TOPMed
rs995623420 CA283645351	442	P>L		No	ClinGen TOPMed gnomAD
CA283645354 rs1027508732	442	P>S		No	ClinGen gnomAD
CA396719819 rs1027508732	442	P>T		No	ClinGen gnomAD
rs1188526695 CA396719811	443	V>A		No	ClinGen TOPMed gnomAD
rs1234274796 CA396719813	443	V>L		No	ClinGen TOPMed
rs571272336 CA283645337	446	G>D		No	ClinGen gnomAD
CA396719797 rs1597357950	446	G>S		No	ClinGen Ensembl
CA396719788 rs1341958365	447	F>Y		No	ClinGen TOPMed
CA8158247 rs749798847	448	P>L		No	ClinGen ExAC TOPMed gnomAD
CA396719781 rs749798847	448	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs896782736 CA283645323	449	S>L		No	ClinGen TOPMed gnomAD
rs1453267974 CA396719771	450	A>G		No	ClinGen TOPMed
CA396719774 rs199752667	450	A>P		No	ClinGen TOPMed gnomAD
CA283645320 rs199752667	450	A>T		No	ClinGen TOPMed gnomAD
rs1453267974 CA396719770	450	A>V		No	ClinGen TOPMed
rs564855799 CA283645316	452	A>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs1324153525 CA396719760	452	A>T		No	ClinGen gnomAD
CA396719751 rs1597357871	453	L>F		No	ClinGen Ensembl
rs1442380966 CA396719750	454	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	455	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391093107 CA396719700	460	H>L		No	ClinGen TOPMed
CA283645314 rs373956890	461	P>A		No	ClinGen TOPMed gnomAD
rs1392459464 CA396719682	463	V>A		No	ClinGen TOPMed
CA396719684 rs1167857673	463	V>F		No	ClinGen gnomAD
CA396719685 rs1167857673	463	V>I		No	ClinGen gnomAD
CA396719676 rs780460117	464	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8158246 rs780460117	464	N>T		No	ClinGen ExAC TOPMed gnomAD
rs746031778 CA8158244	466	Q>*		No	ClinGen ExAC gnomAD
CA283644380 rs977234762	467	I>K		No	ClinGen TOPMed
rs1052367747 CA283644375	468	T>K		No	ClinGen Ensembl
CA396718831 rs1313448096	469	G>R		No	ClinGen TOPMed
CA8158234 rs767311098	470	L>Q		No	ClinGen ExAC gnomAD
CA8158233 VAR_039457 rs16973537	471	A>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1597354975 CA396718804	471	A>P		No	ClinGen Ensembl
rs1597354975 CA396718805	471	A>T		No	ClinGen Ensembl
CA8158231 rs368525812	473	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8158232 rs368525812	473	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396718752 rs1597354954	474	P>T		No	ClinGen Ensembl
CA283644369 rs941700619	476	K>E		No	ClinGen TOPMed gnomAD
rs868398187 CA283644365	476	K>R		No	ClinGen gnomAD
rs530743188 CA8158229	477	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763502642 CA8158230	477	D>N		No	ClinGen ExAC gnomAD
CA396718655 rs1195912637	479	D>N		No	ClinGen gnomAD
rs1482630371 CA396718623	480	N>S		No	ClinGen gnomAD
rs1260649060 CA396718615	481	R>G		No	ClinGen gnomAD
rs78847227 CA8158228	481	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396718570 rs368776653	483	I>F		No	ClinGen ESP ExAC gnomAD
CA283644357 rs959780111	483	I>M		No	ClinGen Ensembl
rs368776653 CA8158227	483	I>V		No	ClinGen ESP ExAC gnomAD
rs1181950413 CA396718551	484	V>A		No	ClinGen TOPMed
CA396718554 rs1567537740	484	V>L		No	ClinGen Ensembl
rs1236590951 CA396718516	486	S>I		No	ClinGen gnomAD
rs1236590951 CA396718518	486	S>N		No	ClinGen gnomAD
CA396718515 rs1597354873	486	S>R		No	ClinGen Ensembl
CA283644350 rs771117758	487	I>M		No	ClinGen ExAC TOPMed gnomAD
CA283644351 rs980375200	487	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	488	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392087828 CA396718477	488	G>A		No	ClinGen TOPMed gnomAD
rs1301086576 CA396718486	488	G>R		No	ClinGen gnomAD
rs1334742349 CA396718454	489	S>C		No	ClinGen gnomAD
CA283644347 rs149821120	489	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8158223 rs149821120	489	S>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	490	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396718395 rs1331175770	493	S>T		No	ClinGen TOPMed gnomAD
rs559511879 CA8158221	494	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA396718375 rs1183189677	495	N>D		No	ClinGen TOPMed gnomAD
rs780941264 CA396718374	495	N>I		No	ClinGen gnomAD
rs780941264 CA283644326	495	N>S		No	ClinGen gnomAD
CA396718368 rs780941264	495	N>T		No	ClinGen gnomAD
CA283644323 rs891687629	496	R>C		No	ClinGen gnomAD
CA283644316 rs1030970822	496	R>H		No	ClinGen TOPMed gnomAD
CA283644324 rs891687629	496	R>S		No	ClinGen gnomAD
CA396718348 rs1430732018	497	K>E		No	ClinGen TOPMed gnomAD
CA396718316 rs1461533422	498	L>F		No	ClinGen gnomAD
rs890580449 CA283644309	498	L>V		No	ClinGen Ensembl
rs1314939021 CA396718320	498	L>W		No	ClinGen TOPMed
rs1375391276 CA396718304	499	L>F		No	ClinGen gnomAD
CA396718194 rs1261046033	505	M>K		No	ClinGen gnomAD
CA396718197 rs1352549840	505	M>V		No	ClinGen gnomAD
CA396718155 rs1244016269	508	I>F		No	ClinGen gnomAD
rs763063535 CA396718150	508	I>N		No	ClinGen TOPMed
TCGA novel	508	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763063535 CA283644288	508	I>T		No	ClinGen TOPMed
rs1244016269 CA396718154	508	I>V		No	ClinGen gnomAD
rs1284247309 CA396718138	509	E>G		No	ClinGen TOPMed
rs902907919 CA283643813	511	M>I		No	ClinGen Ensembl
CA396718033 rs1165998902	511	M>T		No	ClinGen TOPMed gnomAD
CA283643810 rs933623316	513	W>R		No	ClinGen TOPMed
CA283643809 rs1050923644	514	R>G		No	ClinGen TOPMed
rs1425796030 CA396717989	515	N>H		No	ClinGen TOPMed gnomAD
CA283643807 rs566554440	516	V>I		No	ClinGen gnomAD
CA396717959 rs921218942	517	S>I		No	ClinGen gnomAD
rs921218942 CA283643795	517	S>N		No	ClinGen gnomAD
rs1236206849 CA396717939	518	L>F		No	ClinGen TOPMed gnomAD
rs1597353244 CA396717923	520	T>P		No	ClinGen Ensembl
CA396717912 rs1489788654	521	H>Y		No	ClinGen gnomAD
CA396717896 rs1337191772	522	P>R		No	ClinGen gnomAD
rs975716366 CA283643790	522	P>S		No	ClinGen Ensembl
rs941263079 CA396717885	523	T>N		No	ClinGen TOPMed gnomAD
CA396717888 rs1597353219	523	T>P		No	ClinGen Ensembl
rs941263079 CA283643779	523	T>S		No	ClinGen TOPMed gnomAD
rs1223170398 CA396717866	525	L>V		No	ClinGen gnomAD
rs539770217 CA396717845	526	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA396717850 rs1597353200	526	N>S		No	ClinGen Ensembl
rs1341808663 CA396717803	529	T>I		No	ClinGen gnomAD
rs776021983 CA8158210	530	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1223335178 CA396717789	531	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396717779 rs1489903495	531	Q>H		No	ClinGen TOPMed
CA283643765 rs1036708855	531	Q>R		No	ClinGen TOPMed
CA283643761 rs909224194	532	L>F		No	ClinGen TOPMed gnomAD
CA396717778 rs909224194	532	L>I		No	ClinGen TOPMed gnomAD
rs1305301926 CA396717769	532	L>P		No	ClinGen gnomAD
CA396717759 rs1355223729	533	T>K		No	ClinGen TOPMed gnomAD
rs941570595 CA283643749	534	I>N		No	ClinGen TOPMed
CA8158209 rs765683228	535	T>P		No	ClinGen ExAC gnomAD
CA8158207 rs74863398	538	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396717711 rs74863398	538	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396717696 rs1363345365	539	T>S		No	ClinGen TOPMed
CA396717684 rs1403937115	540	S>F		No	ClinGen TOPMed
rs747223456 CA8158206	541	L>F		No	ClinGen ExAC TOPMed gnomAD
CA396717671 rs1419840412	542	E>*		No	ClinGen gnomAD
rs1175292136 CA396717636	544	S>C		No	ClinGen TOPMed gnomAD
rs1175292136 CA396717639	544	S>F		No	ClinGen TOPMed gnomAD
CA396717634 rs1559399	545	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1269545389 CA396717610	547	V>L		No	ClinGen TOPMed
rs568068788 CA283643720	548	S>N		No	ClinGen 1000Genomes gnomAD
rs1032648048 CA283643714	550	D>A		No	ClinGen Ensembl
rs549822005 CA8158202	550	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1474795983 CA396717564	551	P>A		No	ClinGen gnomAD
CA396717502 rs1191066593	554	P>L		No	ClinGen TOPMed
rs1448837336 CA396717513	554	P>S		No	ClinGen TOPMed
rs1448837336 CA396717508	554	P>T		No	ClinGen TOPMed
rs1445707054 CA396717488	555	L>V		No	ClinGen TOPMed
CA283643707 rs966778680	558	T>I		No	ClinGen TOPMed
rs1203314141 CA396717406	559	L>F		No	ClinGen TOPMed gnomAD
rs1373331865 CA396717331	562	G>E		No	ClinGen TOPMed gnomAD
rs998437939 CA283643704	562	G>R		No	ClinGen TOPMed
rs779994971 CA396717306	563	F>L		No	ClinGen ExAC TOPMed gnomAD
CA283643698 rs989498876	564	Q>*		No	ClinGen TOPMed gnomAD
rs1381739883 CA396717287	564	Q>H		No	ClinGen TOPMed
CA8158199 rs201610921	564	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs745866682 CA8158198	565	Y>C		No	ClinGen ExAC gnomAD
CA396717227 rs1467915428	566	Q>H		No	ClinGen gnomAD
CA396717212 rs1407824621	567	P>L		No	ClinGen gnomAD
rs1418252317 CA396717181	568	N>K		No	ClinGen gnomAD
CA8158196 rs369878323	570	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA396717152 rs369878323	570	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA396717134 rs1203483137	571	H>D		No	ClinGen TOPMed
CA8158195 VAR_039458 rs1559401 CA8158194	571	H>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1283634140 CA396717127	571	H>R		No	ClinGen TOPMed
CA396717086 rs1238875056	573	H>N		No	ClinGen gnomAD
rs757873632 CA8158193	573	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1183005791 CA396717075	573	H>R		No	ClinGen gnomAD
rs998051906 CA283643686	576	I>M		No	ClinGen TOPMed gnomAD
CA8158192 rs752123492	576	I>V		No	ClinGen ExAC gnomAD
rs1225978354 CA396717037	577	T>P		No	ClinGen gnomAD
rs139831076 CA396717027	578	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139831076 CA8158191	578	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1449827385 CA396716948	581	D>N		No	ClinGen gnomAD
CA396716928 rs1303040592	582	K>E		No	ClinGen gnomAD
CA283643676 rs528025766	582	K>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA283643680 rs997904270	582	K>R		No	ClinGen TOPMed
CA396716850 rs1597352703	585	Q>H		No	ClinGen Ensembl
CA396716856 rs1318222350	585	Q>R		No	ClinGen gnomAD
rs1287859116 CA396716831	586	K>T		No	ClinGen TOPMed
rs193013437 CA283641168	587	D>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA396715393 rs193013437	587	D>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1390918949 CA396716810	587	D>H		No	ClinGen TOPMed gnomAD
rs193013437 CA283641158	587	D>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA396716805 rs1390918949	587	D>Y		No	ClinGen TOPMed gnomAD
CA8158181 rs376449768	588	E>K		No	ClinGen ESP ExAC gnomAD
rs1305476607 CA396715307	589	E>D		No	ClinGen TOPMed gnomAD
CA396715338 rs1226047447	589	E>K		No	ClinGen gnomAD
rs151000725 CA8158179	590	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396715289 rs1333663678	590	Y>F		No	ClinGen TOPMed
CA396715251 rs768913369	591	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8158178 rs768913369	591	T>R		No	ClinGen ExAC TOPMed gnomAD
CA396715227 rs1406710597	592	W>C		No	ClinGen gnomAD
CA396715193 rs1319091716	593	V>A		No	ClinGen TOPMed
CA396715215 rs9925415	593	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_039459 CA8158176 rs9925415	593	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs903128261 CA283641140	594	L>P		No	ClinGen Ensembl
rs1294261218 CA396715189	594	L>V		No	ClinGen gnomAD
CA8158175 rs757077730	596	P>A		No	ClinGen ExAC
rs1461515369 CA396715107	597	E>D		No	ClinGen gnomAD
rs544128587 CA283641136	597	E>Q		No	ClinGen 1000Genomes
CA396715023 rs1173118361	601	H>N		No	ClinGen gnomAD
rs537040106 CA8158173 CA8158172	601	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781684619 CA283641128	601	H>R		No	ClinGen Ensembl
CA396715021 rs1173118361	601	H>Y		No	ClinGen gnomAD
CA396714989 rs1197643996	602	G>E		No	ClinGen gnomAD
rs747066860 CA8158170	602	G>R		No	ClinGen ExAC TOPMed gnomAD
rs747066860 CA396714993	602	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1435487061 CA396714968	603	I>F		No	ClinGen TOPMed gnomAD
CA396714950 rs1440210366	603	I>M		No	ClinGen TOPMed gnomAD
CA396714964 rs1016890000	603	I>N		No	ClinGen TOPMed gnomAD
CA283641119 rs1016890000	603	I>T		No	ClinGen TOPMed gnomAD
rs1039010742 CA396714939	604	G>D		No	ClinGen gnomAD
rs1039010742 CA283641113	604	G>V		No	ClinGen gnomAD
CA396714888 rs1597346017	606	Y>C		No	ClinGen Ensembl
rs545784646 CA8158167	607	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367778404 CA8158166	609	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367778404 CA396714795	609	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1567531493 CA396714765	610	A>G		No	ClinGen Ensembl
rs201980066 CA396714781	610	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs201980066 CA8158165	610	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8158164 rs375640939	611	V>A		No	ClinGen ESP ExAC gnomAD
rs368180169 CA396714753 CA283641100	611	V>L		No	ClinGen ESP TOPMed gnomAD
rs368180169 CA283641094	611	V>M		No	ClinGen ESP TOPMed gnomAD
rs1389552013 CA396714726	612	L>M		No	ClinGen gnomAD
CA283641087 rs985391219	613	S>T		No	ClinGen Ensembl
rs929472147 CA283641086	614	E>D		No	ClinGen TOPMed
CA8158163 rs761926092	615	R>K		No	ClinGen ExAC gnomAD
rs554192517 CA8158162	616	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1174813268 CA396714603	617	E>G		No	ClinGen TOPMed gnomAD
CA396714589 rs1378768598	618	G>D		No	ClinGen TOPMed gnomAD
CA8158161 rs768788838	618	G>R		No	ClinGen ExAC TOPMed gnomAD
CA396714571 rs376088552	619	A>G		No	ClinGen ExAC TOPMed gnomAD
CA396714578 rs1417812134	619	A>T		No	ClinGen TOPMed gnomAD
rs376088552 CA8158159	619	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396714555 rs1191329120	620	Q>*		No	ClinGen TOPMed
rs1006587568 CA283641077	620	Q>P		No	ClinGen TOPMed gnomAD
CA396714547 rs1006587568	620	Q>R		No	ClinGen TOPMed gnomAD
rs534541986 CA283641074	621	Q>*		No	ClinGen 1000Genomes
CA396714528 rs1472974286	622	T>A		No	ClinGen TOPMed
CA396714522 rs1248136532	622	T>I		No	ClinGen TOPMed gnomAD
CA8158157 rs200862662	624	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597345833 CA396714461	626	V>G		No	ClinGen Ensembl
rs1345475597 CA396714469	626	V>I		No	ClinGen TOPMed gnomAD
CA396714448 rs777422869	627	S>*		No	ClinGen ExAC TOPMed gnomAD
CA283641048 rs777422869	627	S>L		No	ClinGen ExAC TOPMed gnomAD
rs934250344 CA283641051	627	S>P		No	ClinGen TOPMed gnomAD
rs777422869 CA8158156	627	S>W		No	ClinGen ExAC TOPMed gnomAD
CA396714441 rs1311636525	628	V>I		No	ClinGen gnomAD
rs537373142 CA283641045	629	I>L		No	ClinGen 1000Genomes
CA396714393 rs1382364813	630	T>I		No	ClinGen TOPMed gnomAD
CA283641043 rs78752485	630	T>P		No	ClinGen Ensembl
rs778544446 CA8158153	631	A>D		No	ClinGen ExAC gnomAD
rs377693934 CA283641039	631	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8158154 rs377693934	631	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182439992 CA396714366	632	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182439992 CA8158152	632	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182439992 CA396714369	632	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396714331 rs1355171649	634	Q>E		No	ClinGen TOPMed
CA396714323 rs1233719699	634	Q>R		No	ClinGen gnomAD
rs1365533831 CA396714316	635	C>S		No	ClinGen gnomAD
rs1214384220 CA396714307	635	C>Y		No	ClinGen TOPMed
rs1032751476 CA396714264	636	Y>*		No	ClinGen TOPMed gnomAD
rs753369662 CA396714243	637	Y>*		No	ClinGen ExAC gnomAD
rs999119679 CA283641029	639	E>Q		No	ClinGen TOPMed
CA396714155 rs1597345663	641	H>Q		No	ClinGen Ensembl
rs903027945 CA283641026	642	N>K		No	ClinGen TOPMed gnomAD
rs1239494266 CA396714137	642	N>S		No	ClinGen TOPMed
rs1567531151 CA396714123	643	Q>*		No	ClinGen Ensembl
CA283641023 rs927970348	643	Q>H		No	ClinGen TOPMed
CA8158150 rs779588888	643	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA396714117 rs779588888	643	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA396714085 rs1203148316	645	W>R		No	ClinGen gnomAD
rs998102497 CA283641022	646	S>G		No	ClinGen TOPMed
CA396714015 rs1355855659	647	S>R		No	ClinGen gnomAD
rs756549601 CA283641021	648	A>S		No	ClinGen ExAC gnomAD
CA8158149 rs756549601	648	A>T	Variant assessed as Somatic; 5.962e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376945156 CA8158147	649	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1312965039 CA396713970	650	C>S		No	ClinGen gnomAD
rs1010517733 CA396713952	651	Q>L		No	ClinGen TOPMed gnomAD
rs1010517733 CA283641016	651	Q>P		No	ClinGen TOPMed gnomAD
rs779537538 CA8158133	652	V>F		No	ClinGen ExAC TOPMed gnomAD
rs973073805 CA283639002	652	V>G		No	ClinGen TOPMed gnomAD
CA396712459 rs779537538	652	V>I		No	ClinGen ExAC TOPMed gnomAD
rs942260718 CA283638998	653	G>R		No	ClinGen TOPMed
CA283638993 rs969494265	655	Q>*		No	ClinGen Ensembl
CA283638989 rs187128474	655	Q>R		No	ClinGen 1000Genomes gnomAD
CA396712388 rs1437286747	656	S>R		No	ClinGen TOPMed
CA283638982 rs1024264064	657	T>I		No	ClinGen TOPMed gnomAD
CA396712354 rs1024264064	657	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	658	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286660433 CA396712347	658	I>V		No	ClinGen gnomAD
CA8158132 rs368777666	659	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs143353213 CA283638973	662	Q>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA283638970 rs560835987	662	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8158131 rs560835987	662	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396712265 rs560835987	662	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283638966 rs1031271826	663	C>R		No	ClinGen Ensembl
TCGA novel	665	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283638965 rs1035868039	665	C>R		No	ClinGen TOPMed
TCGA novel	665	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547477386 CA283638960	667	H>Q		No	ClinGen Ensembl
rs1271863530 CA396712146	667	H>Y		No	ClinGen TOPMed
rs1366169112 CA396712117	668	L>V		No	ClinGen gnomAD
CA8158130 rs35259348	669	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437753803 CA396712065	670	F>C		No	ClinGen TOPMed gnomAD
rs1437753803 CA396712059	670	F>S		No	ClinGen TOPMed gnomAD
rs1334692877 CA396712025	672	A>T		No	ClinGen gnomAD
rs1466875744 CA396711990	673	S>N		No	ClinGen TOPMed gnomAD
CA396711983 rs371541242	673	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751945480 CA8158128	674	D>N		No	ClinGen ExAC TOPMed gnomAD
CA396711929 rs1426948760	675	F>S		No	ClinGen TOPMed gnomAD
rs530600036 CA283638952	675	F>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1426948760 CA396711932	675	F>Y		No	ClinGen TOPMed gnomAD
CA396711867 rs1191732563	677	V>A		No	ClinGen gnomAD
rs139878577 CA8158126	678	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1176838903 CA396711820	679	P>L		No	ClinGen gnomAD
rs1325643852 CA396711828	679	P>S		No	ClinGen TOPMed
rs765557570 CA283638904	680	R>G		No	ClinGen TOPMed gnomAD
rs1258922754 CA396711807	680	R>K		No	ClinGen gnomAD
CA8158124 rs367854378	682	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA396711754 rs1281120423	683	N>D		No	ClinGen gnomAD
CA8158123 rs759669454	683	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8158122 rs762124928	686	D>A		No	ClinGen ExAC TOPMed gnomAD
CA396711671 rs762124928	686	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8158121 rs375294633	687	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA396711655 rs375294633	687	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs79670253 CA8158119	688	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776929878 CA283638880	688	I>V		No	ClinGen Ensembl
CA396711615 rs1445304029	689	K>R		No	ClinGen TOPMed gnomAD
CA8158117 rs768507548 CA396711554	691	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8158116 rs553586556	693	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8158115 rs775210277	693	R>H		No	ClinGen ExAC TOPMed gnomAD
rs948161268 CA283638856	694	V>M		No	ClinGen TOPMed gnomAD
rs929047578 CA283638849	695	T>S		No	ClinGen TOPMed gnomAD
CA8158114 rs769145828	696	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1381277061 CA396711478	696	N>Y		No	ClinGen gnomAD
CA283638845 rs916657469	697	N>D		No	ClinGen gnomAD
CA283638832 rs532154993	698	P>L		No	ClinGen Ensembl
rs989943235 CA283638842	698	P>S		No	ClinGen gnomAD
CA396711406 rs780616773	699	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8158112 rs780616773	699	V>D		No	ClinGen ExAC TOPMed gnomAD
CA283638826 rs370868068	699	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370868068 CA8158113	699	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA283638815 rs941682910	700	G>A		No	ClinGen TOPMed
TCGA novel	700	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757747259 CA8158111	702	S>P		No	ClinGen ExAC gnomAD
rs148391151 CA8158109	706	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1429727150 CA396711220	709	G>E		No	ClinGen gnomAD
rs1299991878 CA396711212	710	F>L		No	ClinGen gnomAD
CA396711129 rs1381006933	714	T>A		No	ClinGen TOPMed gnomAD
CA396711099 rs1422346220	715	V>A		No	ClinGen TOPMed gnomAD
rs1162947989 CA396711105	715	V>I		No	ClinGen gnomAD
rs1162947989 CA396711106	715	V>L		No	ClinGen gnomAD
rs1416227108 CA396711070	717	W>G		No	ClinGen gnomAD
CA8158108 rs768586625	717	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1485758037 CA396711034	718	A>G		No	ClinGen gnomAD
rs760499234 CA396711029	719	R>G		No	ClinGen TOPMed gnomAD
CA8158107 rs752903748	719	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760499234 CA283638800	719	R>W		No	ClinGen TOPMed gnomAD
CA8158106 rs765531139	720	K>Q		No	ClinGen ExAC gnomAD
CA283638789 CA283638790 rs995837263	721	K>N		No	ClinGen TOPMed gnomAD
rs1567526984 CA396710953	722	D>E		No	ClinGen Ensembl
rs1422414699	722	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs900276228 CA283638785	722	D>N		No	ClinGen Ensembl
rs754967032 CA8158105	723	Q>R		No	ClinGen ExAC gnomAD
CA8158104 rs753932050	725	D>V		No	ClinGen ExAC TOPMed gnomAD
rs771416662 CA283638782	726	M>K		No	ClinGen TOPMed gnomAD
CA396710868 rs771416662	726	M>T		No	ClinGen TOPMed gnomAD
rs202205397 CA8158095	729	V>L		No	ClinGen ExAC TOPMed gnomAD
CA283637830 rs202205397	729	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1449512039 CA396710192	732	T>A		No	ClinGen TOPMed
CA8158094 rs747458368	732	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8158093 rs747458368	732	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	733	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	733	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143395486 CA283637821	733	V>I		No	ClinGen 1000Genomes
CA8158092 rs778431292	734	L>V		No	ClinGen ExAC gnomAD
rs1234557841 CA396710143	735	A>D		No	ClinGen TOPMed
rs1567524702 CA396710149	735	A>P		No	ClinGen Ensembl
CA396710114 rs1239588227	736	D>E		No	ClinGen TOPMed gnomAD
rs1456223579 CA396710128	736	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372942015 CA8158090	740	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1019953806 CA283637810	741	A>T		No	ClinGen TOPMed gnomAD
rs1253952522 CA396709999	742	Q>E		No	ClinGen TOPMed gnomAD
CA396709997 rs1253952522	742	Q>K		No	ClinGen TOPMed gnomAD
CA396709946 rs1362865935	744	H>Q		No	ClinGen gnomAD
rs1010442274 CA283637809	744	H>Y		No	ClinGen Ensembl
rs370229281 CA283637806	747	I>F		No	ClinGen ESP TOPMed
rs1041303982 CA283637802	749	V>F		No	ClinGen TOPMed gnomAD
CA396709789 rs1446090260	751	T>A		No	ClinGen TOPMed gnomAD
CA396709755 rs1447747471	752	G>E		No	ClinGen gnomAD
rs369308650 CA8158087	752	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA283637786 rs931194884	753	Y>C		No	ClinGen TOPMed gnomAD
CA8158086 rs202207513	754	R>*		No	ClinGen ExAC TOPMed gnomAD
CA283637784 rs202207513	754	R>G		No	ClinGen ExAC TOPMed gnomAD
CA283637780 rs972086022	754	R>Q		No	ClinGen TOPMed gnomAD
CA283637773 rs940793605	756	S>R		No	ClinGen TOPMed gnomAD
CA396709642 rs1165858856	757	A>G		No	ClinGen TOPMed gnomAD
CA8158085 rs201602319	757	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437255507 CA396709560	761	A>V		No	ClinGen gnomAD
rs1489198286 CA396709358	763	V>I		No	ClinGen TOPMed gnomAD
rs961203785 CA283637410	764	V>D		No	ClinGen Ensembl
rs1228555643 CA396709300	765	I>L		No	ClinGen TOPMed gnomAD
rs1160596445 CA396709250	767	L>I		No	ClinGen TOPMed
CA396709204 rs1205787104	768	Y>C		No	ClinGen gnomAD
rs760294955 CA8158075	769	G>*		No	ClinGen ExAC gnomAD
CA8158074 rs545798058	770	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396709088 rs1303949888	771	E>D		No	ClinGen TOPMed
CA396709062 rs1341448037	772	G>V		No	ClinGen TOPMed gnomAD
rs757817448 CA283637401	773	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1398754934 CA396709040	773	R>W		No	ClinGen gnomAD
CA396708976 rs1298322522	775	E>A		No	ClinGen gnomAD
CA396708957 rs748647272	776	P>H		No	ClinGen ExAC TOPMed gnomAD
rs748647272 CA8158072	776	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749437774 CA283637398	776	P>S		No	ClinGen TOPMed gnomAD
CA396708963 rs749437774	776	P>T		No	ClinGen TOPMed gnomAD
rs553706725 CA283637389	778	H>Y		No	ClinGen 1000Genomes
CA396708889 rs886889948	779	L>F		No	ClinGen TOPMed gnomAD
CA283637386 rs886889948	779	L>V		No	ClinGen TOPMed gnomAD
CA8158071 rs535220054	781	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1257718535 CA396708847	781	D>H		No	ClinGen TOPMed
rs1458037411 CA396708822	782	P>T		No	ClinGen gnomAD
rs747016184 CA283637367	783	Q>H		No	ClinGen Ensembl
rs4788587 CA8158068	789	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8158067 rs144950332	789	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396708622 rs1451133654	791	G>C		No	ClinGen TOPMed gnomAD
rs1287768765 CA396708621	791	G>D		No	ClinGen gnomAD
rs1451133654 CA396708625	791	G>S		No	ClinGen TOPMed gnomAD
rs571147340 CA8158065	794	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA396708546 rs1279412417	796	L>H		No	ClinGen gnomAD
rs995558199 CA283637350	797	L>F		No	ClinGen TOPMed gnomAD
CA396708523 rs1401485579	798	T>P		No	ClinGen TOPMed
rs1387054598 CA396708505	799	T>A		No	ClinGen gnomAD
rs1045309461 CA283637339	799	T>I		No	ClinGen TOPMed
CA396708475 rs1196772351	800	W>C		No	ClinGen gnomAD
CA396708458 rs1277430548	801	T>I		No	ClinGen TOPMed
CA396708465 rs1277430548	801	T>N		No	ClinGen TOPMed
CA396708441 rs1372105521	802	S>F		No	ClinGen TOPMed
CA396708434 rs1168323286	803	L>V		No	ClinGen gnomAD
CA396708421 rs1442602149	804	G>R		No	ClinGen Ensembl
CA396708379 rs1424014009	805	N>K		No	ClinGen gnomAD
CA396708375 rs1171960641	806	L>M		No	ClinGen TOPMed gnomAD
rs905838887 CA283637335	807	H>Q		No	ClinGen Ensembl
CA396708320 rs1476965496	808	S>R		No	ClinGen gnomAD
CA8158060 rs752634471	810	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8158061 rs376769965	810	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597335438 CA396708277	811	L>P		No	ClinGen Ensembl
rs752883754 CA8158059	812	W>*		No	ClinGen ExAC TOPMed gnomAD
CA396708246 rs1196930873	813	H>N		No	ClinGen gnomAD
rs1196477724 CA396708202	814	D>E		No	ClinGen TOPMed
CA8158058 rs371985430	815	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1567523404 CA396708182	815	N>K		No	ClinGen Ensembl
rs1274071665 CA396708190	815	N>S		No	ClinGen gnomAD
rs1219174634 CA396708163	816	S>C		No	ClinGen gnomAD
CA396708125 rs1375760146	818	V>D		No	ClinGen gnomAD
CA8158057 rs76718668	818	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396708082 rs979552442	820	P>L		No	ClinGen TOPMed gnomAD
CA283637316 rs979552442	820	P>R		No	ClinGen TOPMed gnomAD
CA8158056 rs375646052	821	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333243212 CA396708048	822	W>*		No	ClinGen gnomAD
CA396706872 rs1359993730	822	W>*		No	ClinGen gnomAD
CA396706831 rs1041305222	825	S>G		No	ClinGen TOPMed
CA8158049 rs749634059	825	S>N		No	ClinGen ExAC gnomAD
CA283634382 rs1041305222	825	S>R		No	ClinGen TOPMed
CA396706798 rs1408947181	826	Q>*		No	ClinGen gnomAD
CA396706696 rs1472029518	829	V>G		No	ClinGen gnomAD
CA396706588 rs1212235890	832	M>I		No	ClinGen gnomAD
CA283634369 rs372002601	832	M>V		No	ClinGen ESP TOPMed
CA396706581 rs1488218665	833	A>S		No	ClinGen TOPMed gnomAD
rs1597328787 CA396706572	833	A>V		No	ClinGen Ensembl
CA283634363 rs908749707	834	V>I		No	ClinGen TOPMed gnomAD
CA283634360 rs74991834	835	K>*		No	ClinGen Ensembl
CA283634351 rs984196251	835	K>N		No	ClinGen TOPMed
CA396706504 rs1317190661	836	R>T		No	ClinGen TOPMed gnomAD
CA396706454 rs1455112291	839	H>Y		No	ClinGen TOPMed
rs1477784669 CA396706394	842	C>*		No	ClinGen TOPMed
CA283634347 rs1005000858	844	C>G		No	ClinGen TOPMed gnomAD
rs1293616943 CA396706339	844	C>Y		No	ClinGen gnomAD
CA396706274 rs1407979943	847	A>P		No	ClinGen TOPMed
CA8158048 rs775878596	849	D>H		No	ClinGen ExAC gnomAD
rs746151187 CA8158046	851	G>R		No	ClinGen ExAC TOPMed gnomAD
rs528199822 CA8158044	853	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396706057 rs981158225	853	C>R		No	ClinGen TOPMed gnomAD
rs981158225 CA283634312	853	C>S		No	ClinGen TOPMed gnomAD
CA283634309 rs970766479	854	E>*		No	ClinGen TOPMed
rs1567518856 CA396705998	854	E>G		No	ClinGen Ensembl
rs1196404663 CA396705977	855	L>F		No	ClinGen gnomAD
rs200854269 CA8158043	856	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs778745189 CA396705924	857	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8158041 rs778745189	857	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8158042 rs550234993	857	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396705900 rs1597328589	858	V>G		No	ClinGen Ensembl
rs199925674 CA8158040	858	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA396705874 rs1217755206	859	F>C		No	ClinGen TOPMed gnomAD
CA396705867 rs1316043739	859	F>L		No	ClinGen gnomAD
rs1597328569 CA396705856	860	I>V		No	ClinGen Ensembl
CA396705837 rs1382675436	861	P>Q		No	ClinGen gnomAD
CA396705839 rs1280045460	861	P>S		No	ClinGen TOPMed gnomAD
CA283634276 rs541011969	862	V>A		No	ClinGen TOPMed
CA283634290 rs560987215	862	V>F		No	ClinGen TOPMed gnomAD
CA396705809 rs541011969	862	V>G		No	ClinGen TOPMed
rs560987215 CA396705813	862	V>L		No	ClinGen TOPMed gnomAD
CA283634263 rs111283191	865	R>G		No	ClinGen TOPMed gnomAD
CA396705720 rs1166159521	865	R>T		No	ClinGen gnomAD
CA396705654 rs1465451238	867	L>P		No	ClinGen gnomAD
CA283634261 rs538514628	870	F>C		No	ClinGen 1000Genomes TOPMed
TCGA novel	871	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396701974 rs1254195865	872	H>R		No	ClinGen gnomAD
rs770202044 CA283622823	877	M>K		No	ClinGen ExAC TOPMed gnomAD
rs770202044 CA8158029	877	M>T		No	ClinGen ExAC TOPMed gnomAD
CA283622824 rs1004497336	877	M>V		No	ClinGen TOPMed gnomAD
rs1049289753 CA283622816	878	I>N		No	ClinGen TOPMed gnomAD
rs1301641782 CA396701917	881	K>*		No	ClinGen gnomAD
rs540977575 CA8158028	883	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA8158027 rs373820790	883	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA283622790 rs1020620819	884	Q>R		No	ClinGen Ensembl
TCGA novel	890	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396701807 rs1182018431	890	S>L		No	ClinGen TOPMed gnomAD
rs777958842 CA8158024	891	I>V		No	ClinGen ExAC gnomAD
CA396701764 rs1286050040	893	T>I		No	ClinGen TOPMed
CA283622764 rs376105314	894	R>G		No	ClinGen ESP TOPMed gnomAD
CA8158023 rs201491908 RCV000954495	894	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376105314 CA283622763	894	R>W		No	ClinGen ESP TOPMed gnomAD
CA283622762 rs1007836992	895	H>P		No	ClinGen TOPMed gnomAD
CA396701739 rs1597313702	895	H>Y		No	ClinGen Ensembl
rs749306210 CA8158022	896	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749306210 CA283622760	896	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1262738402 CA396701706	897	W>R		No	ClinGen TOPMed gnomAD
rs561344649 CA283622751	898	N>Y		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	899	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283622747 rs1028006985 CA283622740	900	F>L		No	ClinGen TOPMed gnomAD
rs1340255521 CA396701648	900	F>L		No	ClinGen gnomAD
rs1567509664 CA396701623	901	T>R		No	ClinGen Ensembl
rs993415234 CA283622720	902	R>G		No	ClinGen Ensembl
rs1356659821 CA396701610	902	R>M		No	ClinGen gnomAD
CA8158020 rs755989897	903	V>A		No	ClinGen ExAC TOPMed gnomAD
rs9921412 CA396701601	903	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9921412 VAR_039460 CA8158021	903	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1158788393 CA396701578	904	Q>H		No	ClinGen TOPMed gnomAD
rs557060263 CA283622674	905	R>Q		No	ClinGen 1000Genomes TOPMed
CA8158019 rs188963934	905	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA396701542 rs1037011604	907	S>A		No	ClinGen gnomAD
rs1475517553 CA396701541	907	S>F		No	ClinGen TOPMed gnomAD
CA283622668 rs1037011604	907	S>T		No	ClinGen gnomAD
rs896584077 CA283622653	908	C>Y		No	ClinGen gnomAD
CA396701505 rs1191356323	909	C>W		No	ClinGen gnomAD
CA396701497 CA283622635 rs1055126921	910	M>I		No	ClinGen TOPMed gnomAD
CA396701503 rs1445382856	910	M>L		No	ClinGen gnomAD
CA396701483 rs1352602318	913	L>V		No	ClinGen TOPMed
CA396701475 rs1271742378	914	L>P		No	ClinGen gnomAD
rs1283007427 CA396701461	915	C>F		No	ClinGen gnomAD
rs553441346 CA8158015	916	N>H		No	ClinGen ExAC TOPMed gnomAD
rs921847066 CA283622609	917	M>V		No	ClinGen TOPMed
TCGA novel	918	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278151829 CA396701407	918	V>L		No	ClinGen gnomAD
CA283622598 rs558328073	919	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1297006266 CA396701351	920	N>D		No	ClinGen gnomAD
rs975906467 CA283622593	920	N>S		No	ClinGen TOPMed gnomAD
rs1166891090 CA396701310	921	V>A		No	ClinGen TOPMed gnomAD
rs1166891090 CA396701313	921	V>D		No	ClinGen TOPMed gnomAD
CA396701321 rs1388093740	921	V>I		No	ClinGen gnomAD
CA396701276 CA283622548 rs983194239	922	M>I		No	ClinGen TOPMed
rs1461788357 CA396701300	922	M>L		No	ClinGen TOPMed gnomAD
rs1014623666 CA283622551	922	M>T		No	ClinGen TOPMed gnomAD
CA396701296 rs1461788357	922	M>V		No	ClinGen TOPMed gnomAD
CA8158013 rs775990625	923	F>L		No	ClinGen ExAC gnomAD
rs1193991083 CA396701179	925	K>N		No	ClinGen gnomAD
rs1374921700 CA396701198	925	K>Q		No	ClinGen gnomAD
rs914134988 CA283622545	926	I>T		No	ClinGen Ensembl
rs1567509363 CA396701125	927	N>K		No	ClinGen Ensembl
rs1451295704 CA396701104	928	S>T		No	ClinGen gnomAD
CA396701075 rs1411691186	929	T>I		No	ClinGen TOPMed
CA396701086 rs1404619186	929	T>S		No	ClinGen gnomAD
rs1174814797 CA396701069	930	T>P		No	ClinGen TOPMed
CA8158011 rs78839588	932	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396700987 rs1469190883	933	R>G		No	ClinGen TOPMed gnomAD
CA396700975 rs1257756033	933	R>T		No	ClinGen TOPMed gnomAD
CA396700934 rs1213385789	934	D>E		No	ClinGen gnomAD
CA396700903 rs1164716211	936	Q>K		No	ClinGen TOPMed gnomAD
rs559392095 CA283621143	937	M>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1435614101 CA396700637	937	M>T		No	ClinGen gnomAD
CA283621121 rs552254021	938	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA396700620 rs1471379198	938	R>H		No	ClinGen TOPMed gnomAD
CA283621120 rs552254021	938	R>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA283621119 rs1042866066	939	P>Q		No	ClinGen TOPMed gnomAD
rs1394877488 CA396700579	941	A>P		No	ClinGen TOPMed
TCGA novel	943	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	943	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396700551 rs1484970411	944	W>C		No	ClinGen gnomAD
CA283621116 rs371834826	945	S>C		No	ClinGen ESP TOPMed gnomAD
CA396700517 rs1210944273	946	E>D		No	ClinGen gnomAD
CA396700530 rs1373279401	946	E>K		No	ClinGen TOPMed
CA396700509 rs1232232424	947	L>Q		No	ClinGen TOPMed
rs1281734919 CA396700503	948	L>M		No	ClinGen gnomAD
CA283621112 rs988148450	949	V>I		No	ClinGen gnomAD
rs1302926129 CA396700465	950	S>I		No	ClinGen TOPMed
CA396700425 rs756851793	952	H>D		No	ClinGen ExAC TOPMed gnomAD
rs756851793 CA8157995	952	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1357251968 CA396700396	953	T>A		No	ClinGen gnomAD
rs777088966 CA8157993	956	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8157992 RCV000963802 rs56041205	957	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8157991 rs753160872	958	F>L		No	ClinGen ExAC gnomAD
rs899042853 CA283621067	959	P>S		No	ClinGen TOPMed gnomAD
CA283621055 rs575569465	960	I>M		No	ClinGen 1000Genomes gnomAD
CA283621063 rs771233717	960	I>V		No	ClinGen TOPMed gnomAD
CA283621049 rs953601562	961	N>S		No	ClinGen TOPMed gnomAD
CA396700184 rs1390356978	962	L>V		No	ClinGen TOPMed
rs1029589962 CA283621030	963	V>F		No	ClinGen gnomAD
CA396700137 rs1461853294	964	I>T		No	ClinGen TOPMed
rs1189211937 CA396700149	964	I>V		No	ClinGen TOPMed gnomAD
CA396700115 rs1294599249	965	G>E		No	ClinGen TOPMed
rs760085718 CA8157989	966	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396700102 rs1239800146	966	R>W		No	ClinGen TOPMed gnomAD
CA8157988 rs754123492	969	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1317131946 CA396700034	969	P>S		No	ClinGen gnomAD
rs760795315 CA8157986	970	L>F		No	ClinGen ExAC gnomAD
CA396699980 rs1216565122	971	I>F		No	ClinGen TOPMed
CA8157985 rs538612446	971	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA396699903 rs1399249154	974	Q>*		No	ClinGen gnomAD
CA396699887 rs1597310841	974	Q>R		No	ClinGen Ensembl
CA396699867 rs1390271551	975	E>A		No	ClinGen gnomAD
CA396699859 rs1171416834	975	E>D		No	ClinGen gnomAD
CA396699847 rs1361375150	976	T>N		No	ClinGen gnomAD
CA396699854 rs1597310813	976	T>P		No	ClinGen Ensembl
rs1056888815 CA283620966	978	P>L		No	ClinGen TOPMed
rs372241216 CA283620971	978	P>S		No	ClinGen ESP gnomAD
rs1274953144 CA396699791	979	L>I		No	ClinGen TOPMed
rs1325713026 CA396699777	980	F>I		No	ClinGen gnomAD
CA396699740 rs1460228744	981	P>S		No	ClinGen TOPMed gnomAD
rs1597310701 CA396699667	983	I>T		No	ClinGen Ensembl
CA396699625 rs1597310697	984	Q>R		No	ClinGen Ensembl
rs1597310691 CA396699596	985	A>P		No	ClinGen Ensembl
CA396699572 rs1597310682	986	S>P		No	ClinGen Ensembl
CA396699546 rs1212447085	987	C>R		No	ClinGen TOPMed
rs1477770331 CA396699511	988	L>F		No	ClinGen gnomAD
CA396699413 rs1416826514	990	D>Y		No	ClinGen gnomAD
rs373727886 CA8157979	991	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373727886 CA8157980	991	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283620946 rs1042710491	992	S>T		No	ClinGen TOPMed
rs1056835982 CA283620939	993	V>F		No	ClinGen Ensembl
rs1001703491 CA283620935	994	E>K		No	ClinGen gnomAD
rs79285204 CA8157978	996	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1313754602 CA396699204	996	L>P		No	ClinGen Ensembl
CA396699138 rs1469675118	999	T>A		No	ClinGen gnomAD
rs1217987607 CA396699117	1000	M>K		No	ClinGen gnomAD
rs1217987607 CA396699114	1000	M>T		No	ClinGen gnomAD
CA8157977 rs780831735	1000	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1164232212 CA396699098	1001	V>I		No	ClinGen TOPMed
CA8157976 rs567808221	1002	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148529920 CA8157966	1007	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs144693471 CA8157965	1007	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148529920 CA396696938	1007	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA396696915 rs1391193826	1008	T>A		No	ClinGen gnomAD
rs1332816238 CA396696898	1009	V>L		No	ClinGen TOPMed
rs1300454105 CA396696842	1011	F>L		No	ClinGen gnomAD
rs1374372256 CA396696726	1015	R>G		No	ClinGen gnomAD
CA396696561 rs1171164535	1017	T>I		No	ClinGen TOPMed gnomAD
rs1171164535 CA396696562	1017	T>R		No	ClinGen TOPMed gnomAD
CA396696551 rs1436271362	1018	Y>H		No	ClinGen gnomAD
rs1597308126 CA396696524	1018	Y>S		No	ClinGen Ensembl
TCGA novel	1019	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395293885 CA396696464	1019	L>V		No	ClinGen TOPMed gnomAD
rs377603137 CA283619836	1020	L>F		No	ClinGen TOPMed gnomAD
CA396696381 rs1252351799	1021	S>C		No	ClinGen gnomAD
rs1597308092 CA396696395	1021	S>P		No	ClinGen Ensembl
rs1482870867 CA396696328	1023	C>S		No	ClinGen TOPMed gnomAD
rs1482870867 CA396696325	1023	C>Y		No	ClinGen TOPMed gnomAD
CA396696262 rs1486554143	1025	Q>K		No	ClinGen TOPMed
rs376698934 CA283619817	1026	P>L		No	ClinGen ESP TOPMed gnomAD
rs1437848638 CA396696166	1028	W>*		No	ClinGen TOPMed
rs767877753 CA8157961	1028	W>R		No	ClinGen ExAC gnomAD
CA396696098 rs1411704764	1030	S>C		No	ClinGen gnomAD
CA396696100 rs1411704764	1030	S>Y		No	ClinGen gnomAD
rs1183361889 CA396696075	1031	W>*		No	ClinGen TOPMed
CA283619773 rs1056649712	1032	D>G		No	ClinGen TOPMed
rs1238552497 CA396696023	1033	I>F		No	ClinGen gnomAD
rs762163703 CA8157960	1033	I>S		No	ClinGen ExAC gnomAD
CA283619766 rs948867822	1036	L>P		No	ClinGen TOPMed
CA8157959 rs774565362	1038	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs902604966 CA283619763	1039	L>V		No	ClinGen TOPMed
rs1467960898 CA396695878	1040	L>I		No	ClinGen TOPMed
rs893424204 CA283619755	1043	L>R		No	ClinGen Ensembl
rs934340611 CA283619725	1044	V>I		No	ClinGen TOPMed gnomAD
CA396695710 rs914489801	1048	L>V		No	ClinGen TOPMed gnomAD
rs1313732071 CA396695677	1049	E>D		No	ClinGen TOPMed
rs759330639 CA8157957	1049	E>Q		No	ClinGen ExAC gnomAD
rs1567506245 CA396695681	1049	E>V		No	ClinGen Ensembl
CA396695666 rs1451109460	1050	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	1050	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs533212808 CA8157955	1052	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8157956 rs533212808	1052	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396695601 rs1189899901	1056	Q>*		No	ClinGen gnomAD
rs911016698 CA283619663	1056	Q>P		No	ClinGen TOPMed gnomAD
CA396695582 rs1235803926	1057	G>A		No	ClinGen TOPMed
rs1204827051 CA396695579	1058	E>K		No	ClinGen TOPMed gnomAD
CA8157953 rs149764523	1059	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396695556 rs149764523	1059	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771683973 CA8157952	1059	R>H		No	ClinGen ExAC TOPMed gnomAD
CA396695493 rs1240190272	1060	H>R		No	ClinGen TOPMed gnomAD
CA8157951 rs191710858	1063	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235634618 CA396695438	1063	R>H		No	ClinGen TOPMed gnomAD
CA283618350 rs1053585035	1066	P>T		No	ClinGen Ensembl
CA396694806 rs1392085738	1067	E>K		No	ClinGen TOPMed gnomAD
rs1327632880 CA396694761	1069	H>N		No	ClinGen gnomAD
CA396694754 rs1461959615	1069	H>R		No	ClinGen gnomAD
rs751841283 CA8157942	1073	C>F		No	ClinGen ExAC gnomAD
rs751841283 CA283618346	1073	C>S		No	ClinGen ExAC gnomAD
CA396694668 rs1474469340	1073	C>W		No	ClinGen TOPMed gnomAD
TCGA novel	1073	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764199129 CA8157941	1074	C>R		No	ClinGen ExAC gnomAD
CA396694608 rs1453971858	1077	H>R		No	ClinGen gnomAD
rs1204534266 CA396694594	1078	R>S		No	ClinGen TOPMed
TCGA novel	1079	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396694573 rs1215932148	1080	L>R		No	ClinGen gnomAD
CA283618292 rs1041753324	1083	L>M		No	ClinGen Ensembl
rs946055546 CA283618291	1086	H>Q		No	ClinGen TOPMed gnomAD
CA8157939 rs776383721	1089	T>M		No	ClinGen ExAC TOPMed gnomAD
CA283618281 rs781780943	1091	G>A		No	ClinGen TOPMed
CA396694429 rs1274706734	1091	G>C		No	ClinGen gnomAD
CA396694425 rs781780943	1091	G>D		No	ClinGen TOPMed
CA396694419 rs1233163598	1092	L>V		No	ClinGen gnomAD
rs1368331434 CA396694384	1094	Q>H		No	ClinGen gnomAD
rs766316127 CA8157938	1095	G>D		No	ClinGen ExAC TOPMed gnomAD
CA283618263 rs910696948	1097	Q>P		No	ClinGen TOPMed gnomAD
rs986706026 CA283618249	1098	S>F		No	ClinGen TOPMed
rs538211680 CA8157936	1099	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396694337 rs1398787223	1100	D>G		No	ClinGen gnomAD
rs911396546 CA396694339	1100	D>N		No	ClinGen gnomAD
CA283618210 rs911396546	1100	D>Y		No	ClinGen gnomAD
CA396694326 rs1434404901	1101	F>L		No	ClinGen TOPMed gnomAD
CA396694323 rs1447182067	1102	L>P		No	ClinGen TOPMed
CA8157934 rs112081475	1102	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266450087 CA396694316	1103	D>V		No	ClinGen TOPMed gnomAD
CA283618205 rs952981573	1104	A>V		No	ClinGen TOPMed gnomAD
CA396694256 rs1317287797	1112	Q>*		No	ClinGen TOPMed gnomAD
CA396694254 rs1457918647	1112	Q>R		No	ClinGen TOPMed
rs918828471 CA283618201	1113	E>K		No	ClinGen TOPMed gnomAD
rs918828471 CA396694249	1113	E>Q		No	ClinGen TOPMed gnomAD
CA283618200 rs972836234	1114	L>F		No	ClinGen gnomAD
rs1226549710 CA396694238	1115	L>M		No	ClinGen gnomAD
rs1377147185 CA396694222	1117	T>A		No	ClinGen Ensembl
rs1436495210 CA396694215	1118	H>N		No	ClinGen TOPMed
rs773997933 CA8157933	1119	I>T		No	ClinGen ExAC gnomAD
CA396694208 rs1440031861	1119	I>V		No	ClinGen gnomAD
rs879920371 CA283618188	1120	L>I		No	ClinGen TOPMed gnomAD
CA396694199 rs1345043878	1120	L>R		No	ClinGen gnomAD
CA396694202 rs879920371	1120	L>V		No	ClinGen TOPMed gnomAD
CA283618186 rs375186706	1122	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8157932 rs375186706	1122	T>M		No	ClinGen ExAC TOPMed gnomAD
rs760164595 CA283618171	1125	E>K		No	ClinGen TOPMed gnomAD
CA396694172 rs760164595	1125	E>Q		No	ClinGen TOPMed gnomAD
CA396694165 rs1349713077	1126	P>A		No	ClinGen gnomAD
CA396694160 rs1322098903	1126	P>L		No	ClinGen gnomAD
CA396694163 rs1349713077	1126	P>S		No	ClinGen gnomAD
rs1390610587 CA396694155	1127	S>C		No	ClinGen TOPMed
CA396694121 rs1164858256	1131	T>P		No	ClinGen TOPMed gnomAD
CA8157921 rs765301852	1131	T>S		No	ClinGen ExAC gnomAD
CA396694113 rs1419437722	1132	S>N		No	ClinGen gnomAD
CA8157919 rs368490264 CA396694110	1132	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1474909151 CA396694104	1133	F>C		No	ClinGen TOPMed gnomAD
rs1474909151 CA396694106	1133	F>Y		No	ClinGen TOPMed gnomAD
rs866553574 CA283617991	1134	A>V		No	ClinGen Ensembl
rs1567504035 CA396694093	1135	I>N		No	ClinGen Ensembl
rs758659035 CA283617988	1136	L>V		No	ClinGen TOPMed
rs962117988 CA283617986	1137	S>N		No	ClinGen TOPMed
rs1227081142 CA396694050	1139	E>G		No	ClinGen gnomAD
CA396693986 rs1211786551	1142	K>R		No	ClinGen gnomAD
rs566227303 CA8157917	1143	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1048555049 CA283617984	1143	K>T		No	ClinGen Ensembl
CA283617981 rs779506979	1144	P>S		No	ClinGen Ensembl
TCGA novel	1145	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396693927 rs1383665802	1145	I>T		No	ClinGen TOPMed
rs761630842 CA8157916	1146	S>P		No	ClinGen ExAC gnomAD
rs985201209 CA396693893	1147	N>D		No	ClinGen TOPMed gnomAD
CA283617975 rs985201209	1147	N>Y		No	ClinGen TOPMed gnomAD
rs1318025677 CA396693860	1148	G>A		No	ClinGen TOPMed
CA396693873 rs1314901950	1148	G>C		No	ClinGen TOPMed
CA8157915 rs375456110	1149	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1034048895 CA283617967	1151	K>R		No	ClinGen TOPMed gnomAD
rs1034048895 CA396693813	1151	K>T		No	ClinGen TOPMed gnomAD
CA396693786 rs1485619002	1152	W>C		No	ClinGen TOPMed
CA396693741 rs1567503884	1155	S>A		No	ClinGen Ensembl
rs1325608291 CA396693698	1157	C>Y		No	ClinGen gnomAD
rs1460394953 CA396693680	1158	W>*		No	ClinGen TOPMed gnomAD
CA283617963 rs548441974	1158	W>*		No	ClinGen gnomAD
CA396693674 rs548441974	1158	W>C		No	ClinGen gnomAD
TCGA novel	1163	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396693598 rs1190756828	1164	T>S		No	ClinGen Ensembl
CA283617939 rs558551240	1167	A>V		No	ClinGen Ensembl
CA283617929 rs973003012	1168	S>L		No	ClinGen TOPMed
CA283617925 rs1002036036	1169	A>T		No	ClinGen TOPMed
rs971355080 CA283617924	1170	F>L		No	ClinGen TOPMed
CA396693525 rs1191502545	1171	F>C		No	ClinGen gnomAD
rs538271819 CA283617905	1173	A>E		No	ClinGen Ensembl
CA396693431 rs1265967576	1175	Y>*		No	ClinGen gnomAD
CA396693451 rs1469603696	1175	Y>D		No	ClinGen gnomAD
rs1597304247 CA396693435	1175	Y>F		No	ClinGen Ensembl
CA396693455 rs1469603696	1175	Y>H		No	ClinGen gnomAD
CA396693428 rs1203683442	1176	S>G		No	ClinGen gnomAD
rs1035543 CA8157912 CA396693409 VAR_039461	1176	S>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396693368 rs1164769613	1178	E>A		No	ClinGen TOPMed gnomAD
rs1164769613 CA396693349	1178	E>G		No	ClinGen TOPMed gnomAD
CA283617899 rs990868854	1178	E>K		No	ClinGen Ensembl
CA396693310 rs1366191527	1179	L>F		No	ClinGen gnomAD
CA8157909 rs531243650	1179	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA396693326 rs1597304171	1179	L>W		No	ClinGen Ensembl
rs1403469133 CA396693282	1180	S>I		No	ClinGen TOPMed
CA396693181 rs1597304153	1183	Q>E		No	ClinGen Ensembl
rs781771580 CA8157908	1184	A>T		No	ClinGen ExAC gnomAD
rs959125349 CA283617869	1184	A>V		No	ClinGen Ensembl
CA283617868 rs866381949	1186	S>I		No	ClinGen Ensembl
CA283617863 rs773949453 CA396693053	1186	S>R		No	ClinGen TOPMed
rs1294656985 CA396692985	1188	M>I		No	ClinGen gnomAD
rs770181728 CA283617851	1188	M>L		No	ClinGen TOPMed gnomAD
rs770181728 CA283617854	1188	M>V		No	ClinGen TOPMed gnomAD
rs1461905017 CA396692909	1191	I>N		No	ClinGen gnomAD
rs1352307897 CA396692849	1192	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8157907 rs771372866	1194	S>*		No	ClinGen ExAC gnomAD
rs1172536937 CA396692803	1194	S>P		No	ClinGen gnomAD
rs1394117418 CA396692765	1196	L>V		No	ClinGen TOPMed gnomAD
rs1305515839 CA396692739	1197	Q>H		No	ClinGen TOPMed
CA396692718 rs1429371468	1198	N>T		No	ClinGen gnomAD
TCGA novel	1200	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434719002 CA396692635	1201	I>L		No	ClinGen gnomAD
CA396692618 rs1266877095	1201	I>M		No	ClinGen gnomAD
rs747355870 CA8157906	1201	I>T		No	ClinGen ExAC gnomAD
rs778320956 CA8157905	1202	S>T		No	ClinGen ExAC gnomAD
CA396692582 rs1231314092	1203	Q>*		No	ClinGen gnomAD
CA396692540 rs1207361211	1204	P>L		No	ClinGen gnomAD
rs549904508 CA283617815	1205	V>L		No	ClinGen TOPMed
rs1000723335 CA396692473	1206	K>N		No	ClinGen TOPMed
rs1354324318 CA396690951	1208	V>I		No	ClinGen TOPMed gnomAD
CA283616076 rs866446378	1209	F>L		No	ClinGen TOPMed gnomAD
rs866446378 CA283616075	1209	F>V		No	ClinGen TOPMed gnomAD
rs772693920 CA283616056	1210	F>C		No	ClinGen TOPMed gnomAD
rs998962444 CA283616065	1210	F>L		No	ClinGen TOPMed
rs903416130 CA283616055	1214	Y>H		No	ClinGen TOPMed gnomAD
CA396690757 rs1390511538	1216	L>V		No	ClinGen gnomAD
TCGA novel	1217	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1217	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746015904 CA8157892	1218	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1483824879 CA396690677	1219	S>C		No	ClinGen TOPMed
rs1185496289 CA396690578	1222	P>L		No	ClinGen gnomAD
CA396690582 rs1185496289	1222	P>Q		No	ClinGen gnomAD
rs1417332570 CA396690590	1222	P>S		No	ClinGen TOPMed gnomAD
rs774498500 CA396690570	1223	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774498500 CA8157890	1223	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8157891 rs368144697	1223	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA396690564 rs1204735574	1224	L>F		No	ClinGen gnomAD
RCV000949815 rs201384669	1227	E>*		No	ClinVar dbSNP
CA283616029 rs899986949	1227	E>D		No	ClinGen TOPMed gnomAD
CA283616037 rs1042992653	1227	E>K		No	ClinGen Ensembl
rs1010945586 CA283616032	1227	E>V		No	ClinGen gnomAD
CA283616018 rs867626033	1229	E>D		No	ClinGen Ensembl
CA283616019 rs866722558	1229	E>K		No	ClinGen Ensembl
rs866285462 CA283616012	1230	Q>K		No	ClinGen gnomAD
rs1597299750 CA396690461	1230	Q>P		No	ClinGen Ensembl
rs1411825753 CA723507743	1232	T>R		No	ClinGen TOPMed
CA283615989 rs944089410	1233	K>N		No	ClinGen TOPMed
rs200124428 CA283615964	1234	R>K		No	ClinGen Ensembl
rs929992554 CA283615959	1235	I>M		No	ClinGen TOPMed gnomAD
CA396690386 rs1195913762	1235	I>N		No	ClinGen TOPMed gnomAD
rs1390615355 CA396690361	1236	L>F		No	ClinGen gnomAD
rs200917227 CA8157887	1236	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396690372 rs1482641848	1236	L>V		No	ClinGen gnomAD
rs778187611 CA8157886	1238	L>V		No	ClinGen ExAC TOPMed gnomAD
rs763877784 CA8157876	1240	A>V		No	ClinGen ExAC gnomAD
rs111535556 CA8157875	1241	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396687838 rs1167403151	1243	S>Y		No	ClinGen gnomAD
rs764773755 CA8157873	1244	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1365533048 CA396687770	1245	S>L		No	ClinGen gnomAD
CA283613493 rs965457466	1245	S>P		No	ClinGen TOPMed gnomAD
rs547268544 CA8157871	1246	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547268544 CA8157870	1246	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396687687 rs1454128793	1247	P>L		No	ClinGen gnomAD
CA396687695 rs1454128793	1247	P>Q		No	ClinGen gnomAD
rs1007044936 CA283613471	1248	G>V		No	ClinGen Ensembl
CA8157869 rs761207087	1249	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1393962517 CA396687608	1250	R>G		No	ClinGen TOPMed
rs551546318 CA283613454	1250	R>K		No	ClinGen TOPMed
CA283613451 rs889958702	1252	K>N		No	ClinGen Ensembl
CA396687500 rs1597291865	1252	K>Q		No	ClinGen Ensembl
CA8157867 rs370997511	1253	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1045281421 CA283613441	1253	N>Y		No	ClinGen TOPMed
CA396687446 rs1597291828	1254	N>T		No	ClinGen Ensembl
rs1249280303 CA396687414	1255	P>H		No	ClinGen gnomAD
rs1327716321 CA396687428	1255	P>S		No	ClinGen TOPMed
rs1484299957 CA396687393	1256	V>I		No	ClinGen TOPMed
CA8157864 rs768838215	1257	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA283613426 rs774831653	1257	Y>C		No	ClinGen ExAC gnomAD
CA8157865 rs774831653	1257	Y>S		No	ClinGen ExAC gnomAD
rs987824579 CA283613421	1259	A>D		No	ClinGen TOPMed gnomAD
CA396687296 rs1233050028	1259	A>P		No	ClinGen gnomAD
TCGA novel	1259	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342674293 CA396687252	1260	P>L		No	ClinGen gnomAD
CA8157863 rs749583277	1262	I>V		No	ClinGen ExAC gnomAD
CA396687175 rs1335081645	1263	N>K		No	ClinGen gnomAD
CA396687056 rs1263075671	1266	T>A		No	ClinGen TOPMed gnomAD
rs949032261 CA283613418	1266	T>I		No	ClinGen TOPMed gnomAD
CA396687038 rs1372438870	1267	K>E		No	ClinGen gnomAD
CA396686990 rs1308887800	1268	H>N		No	ClinGen gnomAD
rs797005036 CA396686940	1268	H>Q		No	ClinGen TOPMed gnomAD
CA396686888 rs1176474190	1270	E>A		No	ClinGen TOPMed
CA396686837 rs1423593555	1271	R>G		No	ClinGen gnomAD
CA8157862 rs780047278	1273	L>W		No	ClinGen ExAC gnomAD
TCGA novel	1275	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396686750 rs1363738365	1275	K>R		No	ClinGen gnomAD
rs1180601161 CA396686707	1276	K>N		No	ClinGen gnomAD
rs1430755157 CA396686704	1277	K>Q		No	ClinGen TOPMed
CA396686677 rs1483763543	1278	L>F		No	ClinGen TOPMed gnomAD
CA396686678 rs1483763543	1278	L>V		No	ClinGen TOPMed gnomAD
CA396686638 rs1340353394	1280	K>R		No	ClinGen gnomAD
TCGA novel	1280	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283613402 rs184883499	1283	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184883499 CA8157860	1283	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1440330787 CA396686540	1284	D>H		No	ClinGen TOPMed gnomAD
CA396686542 rs1440330787	1284	D>N		No	ClinGen TOPMed gnomAD
CA283613399 rs976643981	1285	I>T		No	ClinGen TOPMed gnomAD
rs1280540376 CA396686472	1286	L>V		No	ClinGen TOPMed gnomAD
CA396686116 rs1488879369	1287	V>A		No	ClinGen TOPMed
rs948929350 CA396686100	1288	Q>*		No	ClinGen TOPMed gnomAD
rs948929350 CA283612815	1288	Q>E		No	ClinGen TOPMed gnomAD
CA396686042 rs760295040	1290	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8157851 rs760295040	1290	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1597289582 CA396686020	1291	F>C		No	ClinGen Ensembl
CA396685975 rs1318956292	1293	T>I		No	ClinGen TOPMed gnomAD
CA396685981 rs1318956292	1293	T>N		No	ClinGen TOPMed gnomAD
rs773721879 CA8157850	1295	L>S		No	ClinGen ExAC gnomAD
rs1164752102 CA396685912	1297	T>A		No	ClinGen gnomAD
CA396685873 rs1328158578	1298	A>V		No	ClinGen TOPMed
rs968680835 CA396685868	1299	I>F		No	ClinGen TOPMed gnomAD
rs968680835 CA283612791	1299	I>V		No	ClinGen TOPMed gnomAD
rs762425760 CA8157848	1301	S>F		No	ClinGen ExAC gnomAD
CA396685809 rs762425760	1301	S>Y		No	ClinGen ExAC gnomAD
rs769069581 CA8157846	1305	S>P		No	ClinGen ExAC gnomAD
CA283612785 rs1009169655	1306	N>S		No	ClinGen TOPMed gnomAD
CA396685693 rs1272509186	1307	R>G		No	ClinGen TOPMed gnomAD
CA396685610 rs1298754726	1310	L>F		No	ClinGen TOPMed
CA396685596 rs1213308160	1311	H>N		No	ClinGen TOPMed
rs1018642442 CA396685575	1311	H>Q		No	ClinGen gnomAD
rs1273003741 CA396685566	1312	Q>*		No	ClinGen TOPMed
CA396685541 rs1597289427	1313	A>P		No	ClinGen Ensembl
CA396685545 rs1597289427	1313	A>T		No	ClinGen Ensembl
CA396685474 rs1290179485	1315	W>*		No	ClinGen TOPMed gnomAD
rs1356323476 CA396685486	1315	W>R		No	ClinGen gnomAD
TCGA novel	1316	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292077839 CA396685410	1317	T>R		No	ClinGen gnomAD
rs775716960 CA8157844	1319	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369693240 CA396685324 CA396685327	1320	H>Q		No	ClinGen gnomAD
rs377699024 CA8157842	1323	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1293482321 CA396685101	1326	K>N		No	ClinGen gnomAD
rs1050664923 CA283612758	1327	L>F		No	ClinGen TOPMed gnomAD
rs758261839 CA8157840	1328	L>I		No	ClinGen ExAC gnomAD
CA283612755 rs994780233	1329	Q>*		No	ClinGen TOPMed
CA396685034 rs1167260545	1329	Q>L		No	ClinGen TOPMed
rs1387943556 CA396684983	1330	D>E		No	ClinGen gnomAD
CA8157838 rs188315430	1330	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs748174257 CA8157839	1330	D>Y		No	ClinGen ExAC gnomAD
CA396684931 rs1170055025	1332	Y>H		No	ClinGen gnomAD
rs1189447372 CA396684885	1333	P>L		No	ClinGen gnomAD
rs754825474 CA8157837	1333	P>S		No	ClinGen ExAC gnomAD
CA396684870 rs1248591347	1334	W>*		No	ClinGen gnomAD
CA396684882 rs1318748443	1334	W>R		No	ClinGen gnomAD
CA283612748 rs199609004	1337	H>R		No	ClinGen TOPMed gnomAD
rs779877792 CA8157835	1340	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1300981457 CA396684709	1341	P>A		No	ClinGen TOPMed gnomAD
CA396684687 rs1328556487	1341	P>L		No	ClinGen TOPMed
rs565269560 CA8157833	1342	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA396684641 rs1429067282	1344	Y>H		No	ClinGen TOPMed
CA396684609 rs1408723633	1345	G>E		No	ClinGen gnomAD
rs1368107766 CA396684590	1346	D>N		No	ClinGen TOPMed gnomAD
CA396684506 rs1357698826	1349	G>D		No	ClinGen TOPMed
rs749873505 CA8157832	1350	K>R		No	ClinGen ExAC gnomAD
CA396684404 rs1376926332	1353	V>G		No	ClinGen gnomAD
rs1056569244 CA283612731	1354	L>V		No	ClinGen Ensembl
rs1271319749 CA396684379	1355	E>K		No	ClinGen TOPMed
CA283612725 rs926829630	1356	P>H		No	ClinGen TOPMed gnomAD
CA396684350 rs926829630	1356	P>L		No	ClinGen TOPMed gnomAD
rs767125264 CA396684360	1356	P>S		No	ClinGen ExAC TOPMed gnomAD
rs767125264 CA8157831	1356	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1482780566 CA396684291	1359	C>S		No	ClinGen gnomAD
CA396684240 rs1249683600	1360	K>N		No	ClinGen gnomAD
rs981318373 CA283612722	1361	C>R		No	ClinGen TOPMed
rs1207608475 CA396684224	1361	C>Y		No	ClinGen gnomAD
CA396684183 rs1389025080	1362	G>A		No	ClinGen gnomAD
CA396684168 rs1597289140	1363	V>A		No	ClinGen Ensembl
CA396684177 rs1483501701	1363	V>I		No	ClinGen gnomAD
rs1255829805 CA396684147	1364	Q>*		No	ClinGen gnomAD
rs1597289123 CA396684055	1367	F>C		No	ClinGen Ensembl
CA396684009 rs1314269581	1369	I>V		No	ClinGen gnomAD
rs967938521 CA396683987	1370	P>S		No	ClinGen TOPMed gnomAD
CA283612715 rs967938521	1370	P>T		No	ClinGen TOPMed gnomAD
rs752124171 CA8157829	1371	R>C		No	ClinGen ExAC TOPMed gnomAD
CA283612701 rs968352703	1371	R>H		No	ClinGen TOPMed
rs752124171 CA283612707	1371	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8157828 rs148675580	1372	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1289678395 CA396683956	1372	T>P		No	ClinGen TOPMed gnomAD
rs1289678395 CA396683944	1372	T>S		No	ClinGen TOPMed gnomAD
rs148675580 CA396683934	1372	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1401072906 CA396683898	1374	T>A		No	ClinGen gnomAD
CA396683855 rs1467416870	1375	Y>*		No	ClinGen TOPMed gnomAD
CA396683864 rs1300644714	1375	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	1376	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8157827 rs374545204	1376	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396683820 rs1158395301	1377	K>T		No	ClinGen gnomAD
rs775878532 CA8157826	1378	V>M		No	ClinGen ExAC gnomAD
CA396683756 CA396683752 rs755724900	1379	D>E		No	ClinGen TOPMed gnomAD
rs1417140609 CA396683775	1379	D>H		No	ClinGen TOPMed
CA283612687 rs747776759	1380	E>K		No	ClinGen TOPMed gnomAD
rs780304042 CA283612684	1381	G>D		No	ClinGen gnomAD
rs1267455396 CA396683703	1381	G>R		No	ClinGen gnomAD
rs1255777670 CA396683684	1382	Q>P		No	ClinGen gnomAD
rs769970878 CA8157825	1384	A>T		No	ClinGen ExAC gnomAD
CA8157824 rs182925233	1384	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396683560 rs1327687978	1386	C>R		No	ClinGen gnomAD
rs75734766 CA283612654	1388	N>T		No	ClinGen Ensembl
CA283612649 rs994527928	1389	G>S		No	ClinGen TOPMed gnomAD
rs866170810 CA283612648	1390	H>Y		No	ClinGen Ensembl
CA283612637 rs750968335	1391	T>N		No	ClinGen gnomAD
CA283612633 rs995058286	1393	G>E		No	ClinGen Ensembl
rs1045014126 CA283612629	1394	R>C		No	ClinGen TOPMed gnomAD
CA283612623 rs1013187006	1394	R>H		No	ClinGen TOPMed gnomAD
CA396683306 rs1319637775	1395	P>S		No	ClinGen gnomAD
CA283612618 rs781102934	1396	K>N		No	ClinGen Ensembl
rs1183744562 CA396683254	1397	S>R		No	ClinGen TOPMed
rs1270954993 CA396683237	1399	F>L		No	ClinGen gnomAD
rs771055589 CA8157822	1400	P>A		No	ClinGen ExAC gnomAD
rs1159766296 CA396683177	1401	G>A		No	ClinGen gnomAD
rs1159766296 CA396683180	1401	G>E		No	ClinGen gnomAD
CA283612597 rs1014840279	1402	L>V		No	ClinGen TOPMed
CA396683060 rs1185738877	1406	R>S		No	ClinGen gnomAD
CA396683068 rs1367944118	1406	R>T		No	ClinGen gnomAD
rs1425781739 CA396683050	1407	F>C		No	ClinGen gnomAD
CA283612594 rs895932981	1407	F>L		No	ClinGen TOPMed
CA8157821 rs535377595	1408	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396682986 rs1437043514	1409	Y>*		No	ClinGen TOPMed
CA396682961 rs1375391102	1410	I>M		No	ClinGen TOPMed
rs779026000 CA8157820	1410	I>V		No	ClinGen ExAC TOPMed gnomAD
rs765710486 CA396682947	1411	C>F		No	ClinGen TOPMed gnomAD
rs765710486 CA283612586	1411	C>Y		No	ClinGen TOPMed gnomAD
CA396682935 rs1250474087	1412	S>P		No	ClinGen gnomAD
CA8157819 rs768524934	1415	P>T		No	ClinGen ExAC TOPMed gnomAD
CA283612582 rs368635205	1418	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396682762 rs924740296	1420	P>A		No	ClinGen TOPMed gnomAD
CA283612576 rs924740296	1420	P>T		No	ClinGen TOPMed gnomAD
rs1275730064 CA396682713	1422	D>H		No	ClinGen TOPMed
rs1349691758 CA396682652	1423	E>D		No	ClinGen TOPMed
CA283612571 rs1043023277	1424	L>F		No	ClinGen TOPMed gnomAD
rs1279459161 CA396682629	1424	L>R		No	ClinGen TOPMed
CA283612566 rs780037590	1425	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8157816 rs375182382	1426	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396682599 rs375182382	1426	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA396682555 rs753910934	1427	R>S		No	ClinGen TOPMed gnomAD
rs1367034313 CA396682548	1428	L>V		No	ClinGen gnomAD
CA396682532 rs1321196654	1429	T>R		No	ClinGen gnomAD
CA283612529 rs373251864	1430	S>G		No	ClinGen Ensembl
rs1386115887 CA396682514	1430	S>N		No	ClinGen gnomAD
CA396682481 rs1390198474	1431	K>N		No	ClinGen gnomAD
CA396682477 rs1567494394	1432	N>D		No	ClinGen Ensembl
CA396682446 rs1161524871	1433	E>D		No	ClinGen gnomAD
rs1386102054 CA396682428	1434	N>K		No	ClinGen TOPMed gnomAD
rs1459458595 CA396682434	1434	N>S		No	ClinGen gnomAD
rs750152507 CA8157815	1435	G>*		No	ClinGen ExAC gnomAD
CA396682385 rs1448066863	1437	S>N		No	ClinGen gnomAD
rs1451533037 CA396682330	1440	M>I		No	ClinGen gnomAD
CA396682335 rs1194565490	1440	M>V		No	ClinGen gnomAD
rs1567494355 CA396682324	1441	R>K		No	ClinGen Ensembl
rs1305696558 CA396682322	1441	R>S		No	ClinGen gnomAD
CA283608834 rs562323598	1442	G>D		No	ClinGen 1000Genomes
rs1172193399 CA396682319	1442	G>S		No	ClinGen TOPMed
CA396681365 rs1242971992	1443	A>D		No	ClinGen TOPMed
CA8157808 rs143870675	1446	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1199669256 CA396681325	1449	R>K		No	ClinGen gnomAD
rs1342567961 CA396681305	1452	S>N		No	ClinGen gnomAD
rs1276564743 CA396681281	1455	S>F		No	ClinGen gnomAD
rs1224018761 CA396681278	1456	L>F		No	ClinGen TOPMed gnomAD
rs765646943 CA8157807	1458	M>I		No	ClinGen ExAC gnomAD
rs1287800607 CA396681253	1458	M>T		No	ClinGen TOPMed gnomAD
CA396681235 rs1372658942	1459	S>L		No	ClinGen gnomAD
CA283608805 rs766952572	1461	K>N		No	ClinGen TOPMed
CA283608798 rs1016910055	1463	C>R		No	ClinGen Ensembl
CA283608794 rs759252309	1463	C>Y		No	ClinGen gnomAD
rs750980823 CA283608792	1465	W>*		No	ClinGen TOPMed gnomAD
CA396681143 rs1597280881	1465	W>C		No	ClinGen Ensembl
rs750980823 CA396681149	1465	W>L		No	ClinGen TOPMed gnomAD
rs759618986 CA8157806	1465	W>R		No	ClinGen ExAC TOPMed gnomAD
CA396681140 rs1284990309	1466	S>P		No	ClinGen TOPMed gnomAD
CA283608778 rs765772217	1467	I>T		No	ClinGen Ensembl
CA8157805 rs776916182	1467	I>V		No	ClinGen ExAC TOPMed gnomAD
CA396681115 rs1179413886	1468	I>T		No	ClinGen gnomAD
CA396681120 rs1410661248	1468	I>V		No	ClinGen gnomAD
CA283608762 rs903182607	1470	Q>*		No	ClinGen TOPMed gnomAD
rs1186343371 CA396681094	1470	Q>P		No	ClinGen gnomAD
rs1042281663 CA283608760	1471	V>G		No	ClinGen TOPMed
rs373178602 CA8157804	1472	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA396681062 rs1204297083	1473	Y>C		No	ClinGen gnomAD
rs760831174 CA8157803	1473	Y>D		No	ClinGen ExAC gnomAD
rs13335617 VAR_039462	1474	Y>C		No	UniProt dbSNP
rs1375570898 CA396681018	1477	V>F		No	ClinGen TOPMed gnomAD
rs1038927096 CA283608729	1478	C>*		No	ClinGen TOPMed
CA283608732 rs905336887	1478	C>Y		No	ClinGen Ensembl
rs531916919 CA283608724	1479	Y>N		No	ClinGen 1000Genomes
CA396680983 rs1339149688	1480	Y>C		No	ClinGen gnomAD
CA396680990 rs1328382723	1480	Y>N		No	ClinGen TOPMed
rs768684767 CA8157801	1483	I>K		No	ClinGen ExAC TOPMed gnomAD
rs1453882244 CA396680599	1489	K>T		No	ClinGen gnomAD
CA283607589 rs530395678	1490	Q>H		No	ClinGen Ensembl
rs1319196524 CA396680584	1491	Q>R		No	ClinGen TOPMed gnomAD
rs1433462345 CA396680577	1492	K>T		No	ClinGen gnomAD
CA396680564 rs1567488132	1493	W>*		No	ClinGen Ensembl
CA396680571 rs1480947978	1493	W>R		No	ClinGen gnomAD
rs1345335410 CA396680561	1494	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	1494	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396680557 rs1322287410	1494	R>S		No	ClinGen gnomAD
rs1345335410 CA396680560	1494	R>T		No	ClinGen TOPMed gnomAD
CA8157795 rs756906815	1498	G>A		No	ClinGen ExAC TOPMed gnomAD
CA283607578 rs971103865	1499	K>Q		No	ClinGen Ensembl
rs1163781441 CA396680522	1500	R>G		No	ClinGen gnomAD
CA283607573 rs1009872899	1500	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA396680516 rs1448665253	1501	N>H		No	ClinGen gnomAD
rs892807948 CA283607564	1502	I>T		No	ClinGen TOPMed
rs1190509628 CA396680501	1503	L>V		No	ClinGen gnomAD
rs1236219333 CA396680494	1504	D>A		No	ClinGen TOPMed
CA283607559 rs779281816	1504	D>H		No	ClinGen TOPMed gnomAD
CA396680497 rs779281816	1504	D>N		No	ClinGen TOPMed gnomAD
rs1245997435 CA396680479	1506	S>I		No	ClinGen TOPMed gnomAD
CA396680480 rs1245997435	1506	S>T		No	ClinGen TOPMed gnomAD
CA283607556 rs755049089	1508	I>T		No	ClinGen Ensembl
CA396680459 rs1234549762	1509	L>P		No	ClinGen TOPMed
rs777329707 CA8157792	1513	I>N		No	ClinGen ExAC gnomAD
CA283607520 rs1022794503	1514	L>P		No	ClinGen TOPMed gnomAD
CA396680414 rs1295849516	1516	G>E		No	ClinGen TOPMed gnomAD
rs373016656 CA8157791	1516	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA396680402 rs1471408839	1518	D>E		No	ClinGen gnomAD
rs1274709397 CA396680404	1518	D>G		No	ClinGen gnomAD
rs753973264 CA283607503	1518	D>H		No	ClinGen TOPMed gnomAD
rs1433712608 CA396680399	1519	M>L		No	ClinGen gnomAD
CA396680385 rs1233528554	1520	K>N		No	ClinGen gnomAD
CA8157790 rs548904750	1521	S>T		No	ClinGen 1000Genomes ExAC
CA396680365 rs1444574634	1523	S>C		No	ClinGen TOPMed
CA396680367 rs1356805154	1523	S>T		No	ClinGen TOPMed
CA396680362 rs1428701107	1524	L>V		No	ClinGen TOPMed gnomAD
CA396680355 rs1368540312	1525	H>R		No	ClinGen TOPMed gnomAD
rs1428826397 CA396680349	1526	K>E		No	ClinGen gnomAD
CA8157788 rs530380003	1526	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396680319 rs1189351872	1529	M>I		No	ClinGen gnomAD
rs1567487866 CA396680326	1529	M>V		No	ClinGen Ensembl
rs957195874 CA283607482	1531	R>*		No	ClinGen TOPMed gnomAD
CA8157787 rs188435489	1531	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184152519 CA8157786	1533	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482841847 CA396680296	1533	R>H		No	ClinGen TOPMed gnomAD
rs532380433 CA283607462	1534	D>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs532380433 CA283607471	1534	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1042400241 CA396680274	1535	D>H		No	ClinGen TOPMed gnomAD
CA283607458 rs1042400241	1535	D>N		No	ClinGen TOPMed gnomAD
rs1191318724 CA396680229	1538	R>G		No	ClinGen TOPMed
TCGA novel	1538	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375339944 CA396679780	1539	F>C		No	ClinGen ESP ExAC gnomAD
rs1264230314 CA396679782	1539	F>L		No	ClinGen gnomAD
rs1326407389 CA396679777	1539	F>L		No	ClinGen TOPMed gnomAD
rs375339944 CA8157781	1539	F>Y		No	ClinGen ESP ExAC gnomAD
rs1308762894 CA396679764	1541	S>N		No	ClinGen gnomAD
CA396679761 rs375937267	1542	F>I		No	ClinGen TOPMed gnomAD
rs375937267 CA283606590	1542	F>L		No	ClinGen TOPMed gnomAD
CA8157780 rs202129091	1545	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8157779 rs769422156	1545	A>V		No	ClinGen ExAC gnomAD
rs1341741834 CA396679734	1546	V>L		No	ClinGen TOPMed
rs1158276045 CA396679689	1552	A>V		No	ClinGen gnomAD
CA396679681 rs1362111676	1554	H>D		No	ClinGen gnomAD
CA396679679 rs1276426273	1554	H>P		No	ClinGen TOPMed
rs1161606910 CA396679676	1554	H>Q		No	ClinGen gnomAD
CA396679680 rs1362111676	1554	H>Y		No	ClinGen gnomAD
rs1419891538 CA396679657	1557	G>A		No	ClinGen TOPMed gnomAD
CA396679648 rs1409291472	1558	F>L		No	ClinGen TOPMed gnomAD
rs561079933 CA283606566	1559	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561079933 CA8157776	1559	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283606562 rs956815761	1560	V>A		No	ClinGen TOPMed gnomAD
rs1462904895 CA396679643	1560	V>I		No	ClinGen gnomAD
CA396679636 rs1489254382	1561	L>F		No	ClinGen TOPMed
CA396679632 rs1190851621	1562	L>M		No	ClinGen TOPMed
rs900913529 CA283606558	1563	A>T		No	ClinGen Ensembl
rs1423923398 CA396679609	1566	Q>E		No	ClinGen TOPMed
CA396679605 rs1261972486	1566	Q>R		No	ClinGen gnomAD
CA8157773 rs371806923	1568	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396679575 rs1247934940	1570	L>P		No	ClinGen gnomAD
CA8157772 rs748613965	1572	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs17358402 CA8157771	1572	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396679551 rs1360955395	1574	S>R		No	ClinGen gnomAD
CA8157768 rs117048349	1574	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315099245 CA396679547	1575	P>S		No	ClinGen TOPMed
CA8157767 rs117557995	1576	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771800157 CA283606528	1578	R>G		No	ClinGen gnomAD
CA283606525 rs996790008	1578	R>P		No	ClinGen TOPMed gnomAD
CA283606510 rs996790008	1578	R>Q		No	ClinGen TOPMed gnomAD
rs771800157 CA396679532	1578	R>W		No	ClinGen gnomAD
rs1188563581 CA396679527	1579	V>D		No	ClinGen gnomAD
CA396679530 rs1386220997	1579	V>I		No	ClinGen TOPMed gnomAD
CA8157766 rs750689945	1584	L>V		No	ClinGen ExAC gnomAD
rs79142020 CA283606454	1585	S>C		No	ClinGen Ensembl
rs972038110 CA283606452	1585	S>R		No	ClinGen TOPMed
rs147505098 CA8157765	1586	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs917333737 CA283606443	1586	R>Q		No	ClinGen TOPMed gnomAD
rs1289165974 CA396679470	1588	W>C		No	ClinGen gnomAD
rs567546445 CA8157763	1590	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1296590982 CA396679447	1592	V>M		No	ClinGen gnomAD
CA396679423 rs1226164938	1594	F>I		No	ClinGen gnomAD
CA283606428 rs781525301	1594	F>L		No	ClinGen Ensembl
rs1390081955 CA396679348	1599	L>P		No	ClinGen gnomAD
CA396679339 rs1366647569	1601	L>M		No	ClinGen gnomAD
CA283606424 rs958875897	1604	G>A		No	ClinGen Ensembl
rs1194455214 CA396679300	1607	I>T		No	ClinGen TOPMed gnomAD
CA396679212 rs1201935747	1609	F>Y		No	ClinGen TOPMed
CA396679180 rs1403676720	1611	L>M		No	ClinGen gnomAD
CA396679157 rs1597274363	1613	F>L		No	ClinGen Ensembl
rs377568328 CA8157745	1613	F>L		No	ClinGen ESP ExAC gnomAD
CA283606083 rs555443847	1615	C>F		No	ClinGen 1000Genomes
CA396679104 rs1440065219	1616	S>G		No	ClinGen TOPMed
rs1244912622 CA396679101	1616	S>N		No	ClinGen gnomAD
rs751650620 CA8157743	1617	I>N		No	ClinGen ExAC TOPMed gnomAD
rs751650620 CA396679080	1617	I>T		No	ClinGen ExAC TOPMed gnomAD
CA396679063 rs1367953019	1618	S>C		No	ClinGen gnomAD
rs927376870 CA283606056	1620	Y>*		No	ClinGen Ensembl
CA8157740 rs759458864	1621	R>Q		No	ClinGen ExAC gnomAD
rs1013213188 CA283606055	1621	R>W		No	ClinGen TOPMed gnomAD
CA283606031 rs896159150	1623	F>L		No	ClinGen TOPMed gnomAD
CA283606053 rs745721803	1623	F>V		No	ClinGen Ensembl
rs1453984797 CA396678963	1624	F>L		No	ClinGen gnomAD
CA396678958 rs1387351881	1625	S>R		No	ClinGen gnomAD
rs1315631850 CA396678949	1625	S>T		No	ClinGen gnomAD
CA283606024 rs999810062	1626	S>*		No	ClinGen TOPMed gnomAD
CA283606027 rs1031231562	1626	S>P		No	ClinGen TOPMed
rs1162224146 CA396678917	1627	A>V		No	ClinGen TOPMed gnomAD
CA283606022 rs904005734	1630	V>I		No	ClinGen TOPMed gnomAD
rs913374899 CA396678871	1631	V>A		No	ClinGen TOPMed gnomAD
rs913374899 CA283606016	1631	V>D		No	ClinGen TOPMed gnomAD
rs1238911849 CA396678848	1633	L>F		No	ClinGen TOPMed
rs1448777900 CA396678818	1635	M>I		No	ClinGen TOPMed gnomAD
rs1213740575 CA396678780	1637	I>M		No	ClinGen TOPMed gnomAD
rs1240225249 CA396678785	1637	I>T		No	ClinGen gnomAD
CA396678765 rs1285279819	1638	S>F		No	ClinGen gnomAD
CA8157739 rs370439538	1638	S>P		No	ClinGen ESP ExAC gnomAD
CA396678680 CA396678683 rs1357831294	1641	E>D		No	ClinGen TOPMed gnomAD
rs932049006 CA283606004	1641	E>K		No	ClinGen TOPMed
rs1347013215 CA396677137	1643	V>I		No	ClinGen TOPMed gnomAD
CA396677066 rs780461351	1644	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8157729 rs774825106	1645	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1352513730 CA396677021	1646	L>S		No	ClinGen gnomAD
rs372910718 CA8157728	1647	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA396676894 rs1410451094	1650	L>V		No	ClinGen TOPMed gnomAD
CA283603964 CA396676801 rs1039315509	1653	F>L		No	ClinGen TOPMed
CA396676817 rs1462335676	1653	F>S		No	ClinGen TOPMed
CA8157726 rs757537427	1654	L>P		No	ClinGen ExAC gnomAD
rs369321261 CA396676755	1655	I>M		No	ClinGen ESP TOPMed gnomAD
rs1289460365 CA396676735	1656	L>F		No	ClinGen TOPMed
CA396676725 rs1480535908	1657	T>P		No	ClinGen gnomAD
CA283603942 rs943603318	1658	S>C		No	ClinGen Ensembl
rs887481937 CA283603938	1658	S>N		No	ClinGen Ensembl
CA283603931 rs1048704208	1660	I>M		No	ClinGen gnomAD
CA8157725 rs751741055	1660	I>T		No	ClinGen ExAC TOPMed gnomAD
CA396676625 rs1262993558	1661	L>F		No	ClinGen TOPMed gnomAD
rs1567481104 CA396676593	1662	M>I		No	ClinGen Ensembl
CA283603917 rs922865153	1662	M>L		No	ClinGen TOPMed
rs1221188139 CA396676587	1663	V>I		No	ClinGen gnomAD
CA396676556 rs1325008847	1664	L>I		No	ClinGen gnomAD
rs1567481076 CA396676541	1664	L>P		No	ClinGen Ensembl
CA396676517 rs1390456254	1665	V>A		No	ClinGen TOPMed gnomAD
rs1370980009 CA396676503	1666	V>I		No	ClinGen gnomAD
CA396676461 rs1299679531	1668	N>D		No	ClinGen gnomAD
rs373252628 CA8157722	1669	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373252628 CA283603898	1669	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA396675701 rs201167023	1671	V>F		No	ClinGen ExAC TOPMed gnomAD
rs201167023 CA8157720	1671	V>I		No	ClinGen ExAC TOPMed gnomAD
CA283603876 rs201167023	1671	V>L		No	ClinGen ExAC TOPMed gnomAD
CA283603860 rs984248453	1672	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396675652 rs1264075205	1674	I>T		No	ClinGen gnomAD
CA396675659 rs1177148172	1674	I>V		No	ClinGen gnomAD
rs1597266257 CA396675643	1675	L>F		No	ClinGen Ensembl
rs1405994760 CA396675636	1675	L>P		No	ClinGen gnomAD
CA396675631 rs1416158936	1676	M>L		No	ClinGen TOPMed
rs1416158936 CA396675628	1676	M>V		No	ClinGen TOPMed
CA396675608 rs1567480897	1677	A>T		No	ClinGen Ensembl
rs1481142302 CA396675566	1679	G>V		No	ClinGen gnomAD
rs1567480860 CA396675524	1681	E>*		No	ClinGen Ensembl
CA283603850 rs570578939	1682	R>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA396675471 rs1243095981	1683	K>Q		No	ClinGen gnomAD
CA8157715 rs550671252	1684	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8157714 rs773882952	1685	L>F		No	ClinGen ExAC TOPMed gnomAD
rs768176469 CA8157713	1686	K>E		No	ClinGen ExAC gnomAD
CA8157702 rs758696357	1687	K>E		No	ClinGen ExAC TOPMed gnomAD
CA283603621 rs980866833	1690	A>T		No	ClinGen TOPMed
CA283603615 rs949352939	1692	I>M		No	ClinGen TOPMed
rs1369570153 CA396675080	1692	I>T		No	ClinGen TOPMed gnomAD
CA396675025 rs1156235233	1694	T>A		No	ClinGen TOPMed
CA396675015 rs917948177	1694	T>I		No	ClinGen TOPMed gnomAD
CA283603611 rs917948177	1694	T>K		No	ClinGen TOPMed gnomAD
rs748146373 CA283603601	1695	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1461435775 CA396674991	1695	L>R		No	ClinGen TOPMed gnomAD
rs1263219371 CA396674952	1697	Q>*		No	ClinGen TOPMed gnomAD
CA283603595 rs1027880087 CA396674938	1697	Q>H		No	ClinGen TOPMed gnomAD
CA396674944 rs1194011255	1697	Q>R		No	ClinGen gnomAD
rs1289058252 CA396674922	1698	K>Q		No	ClinGen gnomAD
rs1224487910 CA396674882	1700	S>*		No	ClinGen TOPMed gnomAD
rs1356730010 CA396674848	1701	N>I		No	ClinGen gnomAD
CA396674814 rs1250739848	1702	L>F		No	ClinGen gnomAD
CA8157699 rs376793362	1704	G>A		No	ClinGen ExAC TOPMed gnomAD
CA396674750 rs1204868052	1704	G>R		No	ClinGen gnomAD
CA396674718 rs1400615941	1705	I>L		No	ClinGen TOPMed gnomAD
CA8157697 rs371294495	1706	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8157698 rs371294495	1706	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396674664 rs371294495	1706	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1282797140 CA396674568	1710	K>N		No	ClinGen TOPMed
CA396674580 rs1488725716	1710	K>R		No	ClinGen Ensembl
rs534448059 CA396674549	1711	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs534448059 CA283603591	1711	T>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1597264707 CA396674561	1711	T>P		No	ClinGen Ensembl
CA396674542 rs1420746850	1712	S>A		No	ClinGen TOPMed
CA396674520 rs1312931977	1712	S>L		No	ClinGen gnomAD
CA396674460 rs1407194906	1714	E>Q		No	ClinGen gnomAD
TCGA novel	1718	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs28523974 CA8157694	1718	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283603588 rs1028015681	1719	T>A		No	ClinGen TOPMed gnomAD
rs1170781447 CA396674363	1719	T>K		No	ClinGen gnomAD
rs1170781447 CA396674361	1719	T>R		No	ClinGen gnomAD
rs139500935 CA8157692	1720	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs900842642 CA283603572	1721	V>A		No	ClinGen TOPMed gnomAD
rs935830769 CA283603569	1723	S>N		No	ClinGen TOPMed gnomAD
rs79068134 CA8157691	1725	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

No associated diseases with Q7Z443

5 regional properties for Q7Z443

Type	Name	Position	InterPro Accession
domain	GPS motif	631 - 681	IPR000203
domain	PLAT/LH2 domain	743 - 862	IPR001024
domain	C-type lectin-like	43 - 139	IPR001304
domain	Polycystin cation channel, PKD1/PKD2	1467 - 1678	IPR013122
domain	Polycystin-1 like, PLAT/LH2 domain	743 - 859	IPR042060

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein	Interaction with PKD2L1 is required for localization to the cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cation channel complex	An ion channel complex through which cations pass.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

2 GO annotations of molecular function

Name	Definition
calcium channel activity	Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
carbohydrate binding	Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.

6 GO annotations of biological process

Name	Definition
cation transport	The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cellular response to acidic pH	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus with pH < 7. pH is a measure of the acidity or basicity of an aqueous solution.
detection of chemical stimulus involved in sensory perception of sour taste	The series of events required for a sour taste stimulus to be received and converted to a molecular signal.
detection of mechanical stimulus	The series of events by which a mechanical stimulus is received and converted into a molecular signal.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
sensory perception of sour taste	The series of events required to receive a sour taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O35245	Pkd2	Polycystin-2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MFFKGGSWLW	LYIRTSIILG	SELNSPAPHG	QNNCYQLNRF	QCSFEEAQHY	CHVQRGFLAH
70	80	90	100	110	120
IWNKEVQDLI	RDYLEEGKKW	WIGQNVMPLK	KHQDNKYPAD	VAANGPPKPL	SCTYLSRNFI
130	140	150	160	170	180
RISSKGDKCL	LKYYFICQTG	DFLDGDAHYE	RNGNNSHLYQ	RHKKTKRGVA	IARDKMPPGP
190	200	210	220	230	240
GHLPTTCHYP	LPAHLSKTLC	HPISQFPSVL	SSITSQVTSA	ASEPSSQPLP	VITQLTMPVS
250	260	270	280	290	300
VTHAGQSLAE	TTSSPKEEGH	PNTFTSYLQV	SLQKASGQVI	DEIAGNFSRA	VHGLQALNKL
310	320	330	340	350	360
QEACEFLQKL	TALTPRFSKP	AQVNLINSLI	YLSEELLRIP	FQNNNSLGFK	VPPTVCPFHS
370	380	390	400	410	420
LNNVTKAGEG	SWLESKRHTE	PVEDILEMSL	VEFGNIGEAF	LEQNQSPESS	VTLTSANATL
430	440	450	460	470	480
LLSRQNISTL	PLSSYTLGHP	APVRLGFPSA	LALKELLNKH	PGVNVQITGL	AFNPFKDLDN
490	500	510	520	530	540
RNIVGSIGSV	LLSANRKLLQ	VHDLMEDIEI	MLWRNVSLET	HPTSLNMSTH	QLTITVNVTS
550	560	570	580	590	600
LEKSLIVSID	PDSPLLMTLY	LGFQYQPNCT	HFHLNITLPK	DKVWQKDEEY	TWVLNPEHLQ
610	620	630	640	650	660
HGIGTYYITA	VLSERQEGAQ	QTPSLVSVIT	AVTQCYYWEI	HNQTWSSAGC	QVGPQSTILR
670	680	690	700	710	720
TQCLCNHLTF	FASDFFVVPR	TVNVEDTIKL	FLRVTNNPVG	VSLLASLLGF	YVITVVWARK
730	740	750	760	770	780
KDQADMQKVK	VTVLADNDPS	AQFHYLIQVY	TGYRRSAATT	AKVVITLYGS	EGRSEPHHLC
790	800	810	820	830	840
DPQKTVFERG	GLDVFLLTTW	TSLGNLHSLR	LWHDNSGVSP	SWYVSQVIVC	DMAVKRKWHF
850	860	870	880	890	900
LCNCWLAVDL	GDCELDRVFI	PVSKRELFSF	RHLFSSMIVE	KFTQDYLWLS	IATRHPWNQF
910	920	930	940	950	960
TRVQRLSCCM	TLLLCNMVIN	VMFWKINSTT	AKRDEQMRPF	AVAWSELLVS	IHTAVILFPI
970	980	990	1000	1010	1020
NLVIGRLFPL	IEPQETLPLF	PPIQASCLSD	ASVEPLSATM	VVEELKETVR	FLLRRNTYLL
1030	1040	1050	1060	1070	1080
SKCEQPPWSS	WDITKLVKLL	SSLVSSHLEG	QGCHQQGERH	WARVVPENHH	HFCCYLHRVL
1090	1100	1110	1120	1130	1140
QRLKSHLGTL	GLTQGHQSCD	FLDAASQLQK	LQELLETHIL	PTEQEPSREV	TSFAILSSEE
1150	1160	1170	1180	1190	1200
GKKPISNGLS	KWLTSVCWLL	LGFTSLASAF	FTALYSLELS	KDQATSWMIS	IILSVLQNIF
1210	1220	1230	1240	1250	1260
ISQPVKVVFF	TFLYSLMMSR	MPRLNKENEQ	QTKRILALLA	KCSSSVPGSR	DKNNPVYVAP
1270	1280	1290	1300	1310	1320
AINSPTKHPE	RTLKKKKLFK	LTGDILVQIL	FLTLLMTAIY	SAKNSNRFYL	HQAIWKTFSH
1330	1340	1350	1360	1370	1380
QFSEIKLLQD	FYPWANHILL	PSLYGDYRGK	NAVLEPSHCK	CGVQLIFQIP	RTKTYEKVDE
1390	1400	1410	1420	1430	1440
GQLAFCDNGH	TCGRPKSLFP	GLHLRRFSYI	CSPRPMVLIP	TDELHERLTS	KNENGFSYIM
1450	1460	1470	1480	1490	1500
RGAFFTSLRL	ESFTSLQMSK	KGCVWSIISQ	VIYYLLVCYY	AFIQGCQLKQ	QKWRFFTGKR
1510	1520	1530	1540	1550	1560
NILDTSIILI	SFILLGLDMK	SISLHKKNMA	RYRDDQDRFI	SFYEAVKVNS	AATHLVGFPV
1570	1580	1590	1600	1610	1620
LLATVQLWNL	LRHSPRLRVI	SRTLSRAWDE	VVGFLLIILI	LLTGYAIAFN	LLFGCSISDY
1630	1640	1650	1660	1670	1680
RTFFSSAVTV	VGLLMGISHQ	EEVFALDPVL	GTFLILTSVI	LMVLVVINLF	VSAILMAFGK
1690	1700	1710	1720	1730
ERKSLKKEAA	LIDTLLQKLS	NLLGISWPQK	TSSEQAATTA	VGSDTEVLDE	LP