AiPD: Autoinhibited Protein Database

Q6ZRH7

Gene name	CATSPERG
Protein name	Cation channel sperm-associated auxiliary subunit gamma
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57828
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1100-1159 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1100-1159 (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 Q6ZRH7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6ZRH7-F1	Predicted				AlphaFoldDB

942 variants for Q6ZRH7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs887097386 CA308064470	2	C>*		No	ClinGen TOPMed gnomAD
CA405627467 rs1407397335	4	P>L		No	ClinGen gnomAD
rs139891538 CA9412499	5	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9412501 rs765123534	6	M>I		No	ClinGen ExAC gnomAD
rs761209613 CA405627491	6	M>L		No	ClinGen ExAC TOPMed gnomAD
rs761209613 CA9412500	6	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1568369594 CA405627510	7	F>I		No	ClinGen Ensembl
CA405627521 rs538897594	7	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405627534 rs1231090372	8	P>R		No	ClinGen gnomAD
rs1272091306 CA405627547	9	A>V		No	ClinGen gnomAD
rs1335270238 CA405627556	10	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs71354997 CA405627575	12	P>A		No	ClinGen TOPMed
rs71354997 CA308064488	12	P>S		No	ClinGen TOPMed
CA405627615 rs1262794324	15	R>K		No	ClinGen gnomAD
CA405627670 rs1446412517	20	Q>*		No	ClinGen gnomAD
CA405627682 rs1261625834	21	V>M		No	ClinGen gnomAD
CA9412503 rs370488679	24	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751226687 CA405627755	27	A>E		No	ClinGen ExAC gnomAD
CA9412505 rs751226687	27	A>V		No	ClinGen ExAC gnomAD
rs1470036498 CA405627771	28	V>G		No	ClinGen TOPMed
VAR_059631 rs2302182 CA9412506	29	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1431596629 CA405627799	31	A>E		No	ClinGen gnomAD
CA405627807 rs1384695874	32	S>L		No	ClinGen TOPMed gnomAD
CA405627830 rs1300903786	34	R>G		No	ClinGen TOPMed
rs1465327488 CA405627833	34	R>K		No	ClinGen TOPMed
rs1600437650 CA405627856	36	W>G		No	ClinGen Ensembl
CA405628015 rs1300526229	46	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA308064525 rs574724371	48	V>I		No	ClinGen Ensembl
rs554632089 CA9412508	49	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA405628103 rs1412337859	52	E>K		No	ClinGen gnomAD
rs1292096540 CA405628128	53	F>L		No	ClinGen gnomAD
TCGA novel	54	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405628158 rs1346696650	55	R>M		No	ClinGen gnomAD
CA405628186 rs1340745925	57	G>D		No	ClinGen gnomAD
rs1447139941 CA405628204	58	E>K		No	ClinGen TOPMed
CA405628237 rs1277621113	59	S>N		No	ClinGen gnomAD
CA9412511 rs755581572	66	F>S		No	ClinGen ExAC gnomAD
rs755090460 CA308064558	67	E>V		No	ClinGen Ensembl
rs1210322117 CA405628423	70	P>T		No	ClinGen gnomAD
rs779540088 CA9412513	71	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779540088 CA9412512	71	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1304507 rs1179843928 CA405628494	74	V>A	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1600437765 CA405628514	75	S>N		No	ClinGen Ensembl
CA405628550 rs1470690225	76	S>T		No	ClinGen gnomAD
rs1199114141 CA405628572	77	L>M		No	ClinGen TOPMed
rs1161004041 CA405628634	78	F>C		No	ClinGen gnomAD
rs772188192 CA9412514	79	H>Y		No	ClinGen ExAC
rs777650361 CA9412515	80	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	81	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405628892 rs1308724476	84	S>*		No	ClinGen gnomAD
CA9412517 rs771095619	85	P>L		No	ClinGen ExAC gnomAD
rs899011185 CA308064610	85	P>S		No	ClinGen TOPMed
CA405629042 rs1402288039	87	D>G		No	ClinGen gnomAD
CA405629038 rs1402288039	87	D>V		No	ClinGen gnomAD
CA405629066 rs1397421899	88	P>A		No	ClinGen gnomAD
CA405629130 rs1354031331	89	S>N		No	ClinGen TOPMed gnomAD
rs776444561 CA9412518	89	S>R		No	ClinGen ExAC gnomAD
CA308064645 rs1024003199	92	Y>C		No	ClinGen TOPMed
CA405629637 rs1210534872	101	I>V		No	ClinGen TOPMed
CA9412522 rs752988469	102	N>S		No	ClinGen ExAC TOPMed gnomAD
CA405629830 rs1600438046	104	S>P		No	ClinGen Ensembl
CA9412523 rs763670233	104	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA405629906 rs1271663286	106	E>K		No	ClinGen gnomAD
rs1568369797 CA405629947	107	E>K		No	ClinGen Ensembl
rs553921783 CA9412537	113	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs572145273 CA9412538	114	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs374578780 CA9412539	115	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA405632436 rs1238559379	115	R>H		No	ClinGen TOPMed gnomAD
rs374578780 CA405632425	115	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258719697 CA405632445	116	M>V		No	ClinGen gnomAD
CA9412540 rs775087783	120	T>M		No	ClinGen ExAC TOPMed gnomAD
rs964539763 CA308068436	121	G>A		No	ClinGen Ensembl
rs1415073758 CA405632671	124	P>T		No	ClinGen gnomAD
rs1178291072 CA405632723	126	V>L		No	ClinGen TOPMed gnomAD
rs1600446979 CA405632868	129	T>P		No	ClinGen Ensembl
CA405632885 rs1332539548	130	F>L		No	ClinGen gnomAD
rs1220869524 CA405632896	130	F>S		No	ClinGen TOPMed
rs920345457 CA308068446	131	Q>*		No	ClinGen Ensembl
rs1443252635 CA405632981	132	S>P		No	ClinGen TOPMed gnomAD
CA405632991 rs1241488929	132	S>Y		No	ClinGen TOPMed
CA405633019 rs1236737363	133	P>R		No	ClinGen gnomAD
CA405633073 rs1439354272	135	N>T		No	ClinGen gnomAD
CA308068448 rs983115015	136	F>I		No	ClinGen TOPMed gnomAD
rs907550847 CA308068453	136	F>Y		No	ClinGen TOPMed gnomAD
rs950267806 CA308068461	137	Y>C		No	ClinGen TOPMed gnomAD
CA405633151 rs1280096272	138	R>C		No	ClinGen TOPMed gnomAD
CA308068491 rs1045952922	138	R>H		No	ClinGen TOPMed gnomAD
CA9412541 rs749267952	139	W>C		No	ClinGen ExAC TOPMed gnomAD
rs536857831 CA308068503	140	K>E		No	ClinGen 1000Genomes
CA405633215 rs1458889071	140	K>T		No	ClinGen TOPMed gnomAD
CA405633239 rs1464630820	141	I>T		No	ClinGen TOPMed gnomAD
rs1191706385 CA405633296	142	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	142	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753192715 CA9412543	143	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs937504707 CA308068517	145	Q>K		No	ClinGen Ensembl
rs1478304281 CA405633416	146	I>T		No	ClinGen gnomAD
CA308068522 rs1055060776	146	I>V		No	ClinGen Ensembl
rs1193051647 CA405633469	147	Q>H		No	ClinGen TOPMed gnomAD
CA308068545 rs868593346	148	M>I		No	ClinGen Ensembl
rs893189998 CA308068539	148	M>L		No	ClinGen TOPMed
CA405633550 rs1417452463	150	A>V		No	ClinGen TOPMed gnomAD
rs1465302189 CA405633576	151	A>V		No	ClinGen gnomAD
rs1460163898 CA405633602	152	P>H		No	ClinGen gnomAD
CA9412545 rs761384937	152	P>S		No	ClinGen ExAC gnomAD
CA9412546 rs767335643	154	R>C		No	ClinGen ExAC TOPMed gnomAD
rs547897343 CA9412547	154	R>H		No	ClinGen ExAC TOPMed gnomAD
CA405633644 rs547897343	154	R>L		No	ClinGen ExAC TOPMed gnomAD
CA308068572 rs891125632	157	E>*		No	ClinGen Ensembl
CA405634856 rs1340875121	157	E>D		No	ClinGen gnomAD
CA405634865 rs1450001228	158	P>T		No	ClinGen gnomAD
CA405634931 rs1180034946	160	M>T		No	ClinGen TOPMed
CA405634928 rs1306777676	160	M>V		No	ClinGen gnomAD
CA9412566 rs1555728232	161	A>V		No	ClinGen Ensembl
CA405634997 rs1171672399	163	E>*		No	ClinGen TOPMed gnomAD
rs1240780764 CA405635017	164	V>M		No	ClinGen gnomAD
rs1200126706 CA405635115	167	M>I		No	ClinGen gnomAD
CA308068828 rs971148036	167	M>L		No	ClinGen TOPMed gnomAD
CA308068831 rs971148036	167	M>V		No	ClinGen TOPMed gnomAD
CA405635204 rs1257174825	170	Y>C		No	ClinGen gnomAD
CA405635232 rs1180182546	171	T>M		No	ClinGen TOPMed gnomAD
rs1277392712 CA405635270	173	M>T		No	ClinGen TOPMed
rs760427901 CA9412569	174	P>H		No	ClinGen ExAC gnomAD
CA405635308 rs765910483	175	I>F		No	ClinGen ExAC gnomAD
rs1408758553 CA405635318	175	I>N		No	ClinGen TOPMed
CA9412570 rs765910483	175	I>V		No	ClinGen ExAC gnomAD
CA9412571 rs775966791	177	K>E		No	ClinGen ExAC gnomAD
CA405635402 rs1171447177	178	G>V		No	ClinGen gnomAD
CA308068857 rs981042943	182	M>I		No	ClinGen Ensembl
rs372473507 CA9412572	182	M>T		No	ClinGen ESP ExAC TOPMed
CA9412573 rs375537032	183	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329131165 CA405635499	183	R>H		No	ClinGen TOPMed gnomAD
rs1329131165 CA405635505	183	R>L		No	ClinGen TOPMed gnomAD
CA405635705 rs1447453009	190	G>S		No	ClinGen gnomAD
rs762246448 CA405635727	191	L>V		No	ClinGen ExAC gnomAD
CA405635784 rs1329247233	193	T>A		No	ClinGen gnomAD
CA405635790 rs1232692038	193	T>I		No	ClinGen TOPMed gnomAD
rs958954162 CA308068874	194	F>L		No	ClinGen Ensembl
rs1256653567 CA405635867	196	P>L		No	ClinGen gnomAD
CA405635864 rs1256653567	196	P>R		No	ClinGen gnomAD
rs1347490722 CA405635921	199	R>K		No	ClinGen gnomAD
CA405635925 rs1347490722	199	R>M		No	ClinGen gnomAD
CA405636019 rs1172641776	200	F>L		No	ClinGen gnomAD
CA308069004 rs1004657915	203	N>I		No	ClinGen Ensembl
rs959871252 CA308069022	206	G>S		No	ClinGen TOPMed gnomAD
CA308069030 rs971095007	207	F>S		No	ClinGen Ensembl
rs992368428 CA308069031	211	D>E		No	ClinGen TOPMed
CA405636177 rs1568372539	211	D>N		No	ClinGen Ensembl
rs61732182 CA9412589	212	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9412588 rs776137239	212	R>W		No	ClinGen ExAC TOPMed gnomAD
CA308069060 rs958614806	214	N>I		No	ClinGen TOPMed gnomAD
CA308069059 rs958614806	214	N>S		No	ClinGen TOPMed gnomAD
CA9412590 rs768911056	215	N>S		No	ClinGen ExAC
rs1311035719 CA405636278	216	I>T		No	ClinGen gnomAD
rs1487582602 CA405636360	220	V>M		No	ClinGen gnomAD
CA405636379 rs1213899743	221	G>R		No	ClinGen gnomAD
rs1488417351 CA405636415	223	E>K		No	ClinGen gnomAD
rs752503122 CA9412602	230	Q>R		No	ClinGen ExAC
rs1375075108 CA405636847	231	Y>C		No	ClinGen gnomAD
CA405636837 rs1178870367	231	Y>D		No	ClinGen gnomAD
CA405636846 rs1375075108	231	Y>S		No	ClinGen gnomAD
CA405636912 rs1310586246	234	G>D		No	ClinGen gnomAD
rs1379716221 CA405636960	236	S>L		No	ClinGen TOPMed gnomAD
CA405636983 rs1225013861	237	S>L		No	ClinGen TOPMed gnomAD
CA405637048 rs1311315744	241	W>G		No	ClinGen gnomAD
CA405637072 rs1210298887	242	H>Y		No	ClinGen TOPMed gnomAD
rs551833511 CA308070637	243	T>A		No	ClinGen 1000Genomes gnomAD
CA9412604 rs777833749	245	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9412603 rs758453597	245	D>N		No	ClinGen ExAC TOPMed gnomAD
rs531329932 CA308070656	246	Q>L		No	ClinGen TOPMed gnomAD
CA405637139 rs531329932	246	Q>P		No	ClinGen TOPMed gnomAD
rs770347780 CA405637176	248	P>L		No	ClinGen ExAC gnomAD
rs770347780 CA9412606	248	P>R		No	ClinGen ExAC gnomAD
CA9412607 rs780691154	249	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1031506484 CA308070672	250	L>P		No	ClinGen TOPMed
CA405637260 rs1434000127	254	G>D		No	ClinGen TOPMed gnomAD
rs1481767672 CA405637271	255	I>L		No	ClinGen TOPMed
CA308070679 rs373768754	255	I>T		No	ClinGen ESP
CA9412608 rs745526433	257	N>S		No	ClinGen ExAC TOPMed gnomAD
CA308070693 rs955955075	258	E>A		No	ClinGen TOPMed gnomAD
rs1335488384 CA405637373	260	Y>C		No	ClinGen TOPMed
rs781467936 CA405637384	261	V>I		No	ClinGen gnomAD
rs781467936 CA308070707	261	V>L		No	ClinGen gnomAD
CA405637428 rs1466306026	263	M>I		No	ClinGen TOPMed gnomAD
rs1320914583 CA405637468	266	T>A		No	ClinGen TOPMed
CA405637632 rs1272575631	271	F>I		No	ClinGen gnomAD
rs1272575631 CA405637635	271	F>V		No	ClinGen gnomAD
CA405637659 rs1366216301	272	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9412611 rs762140406	274	V>M		No	ClinGen ExAC TOPMed gnomAD
CA308074274 rs186593851	276	L>P		No	ClinGen 1000Genomes
CA308074278 rs1050553480	277	S>G		No	ClinGen TOPMed
CA308074279 rs571505750	277	S>N		No	ClinGen gnomAD
CA405640503 rs1600460924	278	I>T		No	ClinGen Ensembl
CA405640495 rs1289115529	278	I>V		No	ClinGen gnomAD
rs1600460935 CA405640620	283	V>G		No	ClinGen Ensembl
rs1322226202 CA405640605	283	V>M		No	ClinGen gnomAD
CA9412618 rs759710702	285	S>A		No	ClinGen ExAC gnomAD
CA405640659 rs1568375928	285	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1244216267 CA405640777	292	G>D		No	ClinGen gnomAD
rs1194581776 CA405640765	292	G>S		No	ClinGen gnomAD
CA405640798 rs1600460986	294	T>P		No	ClinGen Ensembl
rs765527935 CA9412620	296	T>I		No	ClinGen ExAC gnomAD
rs1414329903 CA405640858	298	Y>C		No	ClinGen TOPMed
rs1600461016 CA405640870	300	T>P		No	ClinGen Ensembl
rs1164722564 CA405640874	300	T>S		No	ClinGen TOPMed
CA9412621 rs370881014	301	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs985710593 CA308074298	304	E>D		No	ClinGen TOPMed gnomAD
CA308074296 rs944397745	304	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1248948070 CA405640910	305	S>N		No	ClinGen TOPMed
CA405640922 rs1399039849	306	T>N		No	ClinGen TOPMed gnomAD
rs1036066382 CA308074301	307	L>P		No	ClinGen TOPMed
rs1036066382 CA405640934	307	L>R		No	ClinGen TOPMed
CA308074302 rs200982088	310	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs910052120 CA405640969	310	R>P		No	ClinGen TOPMed gnomAD
CA308074304 rs910052120	310	R>Q		No	ClinGen TOPMed gnomAD
CA308074303 rs200982088	310	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	311	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405640994 rs1352475011	312	N>I		No	ClinGen TOPMed
CA308074308 rs530867698	313	Q>H		No	ClinGen Ensembl
rs1183951583 CA405641036	315	V>A		No	ClinGen gnomAD
rs1037513424 CA308074322	316	Y>*		No	ClinGen Ensembl
rs941563318 CA308074319	316	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	317	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs796292378 CA308074324	317	Y>C		No	ClinGen Ensembl
CA9412623 rs764197189	321	T>A		No	ClinGen ExAC TOPMed gnomAD
CA405641114 rs1217659341	321	T>I		No	ClinGen TOPMed gnomAD
rs1325316832 CA405641124	322	Y>C		No	ClinGen TOPMed
rs1440887941 CA405641134	323	T>A		No	ClinGen gnomAD
rs1238345395 CA405641161	325	L>R		No	ClinGen gnomAD
CA308074330 rs897253172	325	L>V		No	ClinGen TOPMed gnomAD
CA405641189 rs1409207928	327	E>D		No	ClinGen TOPMed
CA308074335 rs751460339	327	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9412624 rs751460339	327	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA308074350 rs757166002	330	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9412626 rs372812402	330	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9412625 rs757166002	330	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9412627 rs745349659	331	G>D		No	ClinGen ExAC gnomAD
rs764395187 CA308074358	331	G>S		No	ClinGen TOPMed gnomAD
rs755811756 CA9412628	332	S>C		No	ClinGen ExAC TOPMed gnomAD
rs375889437 CA9412649	334	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1462452256 CA405642259	335	W>*		No	ClinGen gnomAD
CA405642275 rs1169535458	336	I>T		No	ClinGen gnomAD
CA9412650 rs748953204	337	R>H		No	ClinGen ExAC TOPMed gnomAD
CA405642305 rs1386330000	338	V>I		No	ClinGen gnomAD
rs778031624 CA9412652	339	L>P		No	ClinGen ExAC gnomAD
CA9412653 rs747369415	340	A>T		No	ClinGen ExAC gnomAD
CA9412655 rs777184288	342	E>K		No	ClinGen ExAC TOPMed gnomAD
CA405642382 rs1018122170	344	I>L		No	ClinGen gnomAD
rs1018122170 CA308075785	344	I>V		No	ClinGen gnomAD
CA9412656 rs746014304 COSM3797029	345	K>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1356236866 CA405642393	345	K>Q		No	ClinGen gnomAD
rs770002451 CA9412657	346	K>Q		No	ClinGen ExAC gnomAD
rs1490742203 CA405642435	348	C>S		No	ClinGen gnomAD
CA308075794 rs964307375	349	P>A		No	ClinGen Ensembl
rs545451828 CA9412659	350	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1489203783 CA405642492	351	Y>C		No	ClinGen TOPMed
CA9412661 rs774060715	353	H>L		No	ClinGen ExAC TOPMed gnomAD
CA9412662 rs774060715	353	H>R		No	ClinGen ExAC TOPMed gnomAD
rs951285037 CA308075805	354	S>N		No	ClinGen Ensembl
rs1206560335 CA405642583	354	S>R		No	ClinGen Ensembl
CA9412664 rs750230069	355	N>S		No	ClinGen ExAC gnomAD
rs1600465935 CA405642628	356	G>D		No	ClinGen Ensembl
rs982516075 CA308075811	357	S>P		No	ClinGen Ensembl
rs760522696 CA9412667	359	Y>C		No	ClinGen ExAC gnomAD
CA405642689 rs1384325134	359	Y>N		No	ClinGen gnomAD
rs1047438978 CA308075824	360	I>T		No	ClinGen TOPMed
CA405642783 rs368645121	362	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9412668 rs368645121	362	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs146516371 CA9412669	363	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA405642795 rs146516371	363	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213783727 CA405642816	364	T>A		No	ClinGen TOPMed gnomAD
rs754443545 CA9412671	364	T>S		No	ClinGen ExAC TOPMed gnomAD
rs868353410 CA308075840	365	T>M		No	ClinGen TOPMed gnomAD
CA405642824 rs1453573322	365	T>P		No	ClinGen TOPMed
rs868353410 CA405642835	365	T>R		No	ClinGen TOPMed gnomAD
CA9412673 rs751951623	366	G>A		No	ClinGen ExAC gnomAD
rs199515254 CA308075859	370	G>A		No	ClinGen 1000Genomes ExAC TOPMed
CA9412674 rs757784008	370	G>C		No	ClinGen ExAC gnomAD
rs199515254 CA9412675	370	G>D		No	ClinGen 1000Genomes ExAC TOPMed
CA405642968 rs1184079179	371	Y>C		No	ClinGen gnomAD
CA9412676 rs746217489	372	V>I		No	ClinGen ExAC gnomAD
rs1016682571 CA308075864	373	H>P		No	ClinGen TOPMed gnomAD
rs780387366 CA9412678	375	G>A		No	ClinGen ExAC gnomAD
CA308075867 rs762479461	375	G>R		No	ClinGen TOPMed gnomAD
CA405643051 rs762479461	375	G>W		No	ClinGen TOPMed gnomAD
rs1301464977 CA405643063	376	T>A		No	ClinGen gnomAD
TCGA novel	376	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376513641 CA9412679	378	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs376513641 CA405643093	378	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs768563593 CA9412680	378	R>T		No	ClinGen ExAC gnomAD
rs1179032956 CA405644158	380	G>D		No	ClinGen gnomAD
rs773092595 CA9412702	380	G>S		No	ClinGen ExAC gnomAD
CA9412703 rs746970093	381	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs746970093 CA308076542	381	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs770653802 CA9412704	382	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1437953585 CA405644342	388	P>A		No	ClinGen gnomAD
rs141054803 CA9412706	390	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA405644391 rs141054803	390	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs764925813 CA9412708	391	W>*		No	ClinGen ExAC TOPMed gnomAD
CA405644432 rs1184468712	391	W>*		No	ClinGen TOPMed
rs764925813 CA405644448	391	W>C		No	ClinGen ExAC TOPMed gnomAD
rs894851378 CA308076581	393	V>A		No	ClinGen TOPMed
CA405644507 rs1438450020	394	C>Y		No	ClinGen TOPMed
rs1273686070 CA405644525	395	E>K		No	ClinGen TOPMed gnomAD
rs1338516083 CA405644598	397	I>L		No	ClinGen TOPMed
CA308076587 rs964771156	397	I>M		No	ClinGen Ensembl
CA405644638 rs1309169553	399	V>L		No	ClinGen gnomAD
CA405644785 rs1344046652	400	T>S		No	ClinGen TOPMed
CA308076683 rs940302879	401	T>A		No	ClinGen TOPMed gnomAD
rs372118402 CA308076686	401	T>I		No	ClinGen ESP TOPMed gnomAD
CA405644797 rs372118402	401	T>N		No	ClinGen ESP TOPMed gnomAD
rs1347223465 CA405644836	404	I>L		No	ClinGen TOPMed
rs1316476777 CA405644866	405	I>M		No	ClinGen TOPMed
TCGA novel	408	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405644919 rs1400262582	409	Y>H		No	ClinGen TOPMed
rs376438467 CA405644939	410	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9412735 rs750033362	411	A>T		No	ClinGen TOPMed gnomAD
CA308076699 rs1037266431	411	A>V		No	ClinGen TOPMed gnomAD
CA405644948 rs1186941378	412	G>V		No	ClinGen TOPMed
CA405644956 rs758552277	413	E>D		No	ClinGen ExAC TOPMed gnomAD
CA405644963 rs1314348800	414	Y>C		No	ClinGen gnomAD
CA308076728 rs757372986	416	L>V		No	ClinGen ExAC TOPMed gnomAD
CA405644987 rs1350236235	418	L>M		No	ClinGen gnomAD
rs781071964 CA9412742	419	L>P		No	ClinGen ExAC gnomAD
CA9412743 rs745819007	422	S>R		No	ClinGen ExAC gnomAD
CA405645060 rs1441010075	423	G>R		No	ClinGen gnomAD
CA9412745 rs779721512	425	G>D		No	ClinGen ExAC gnomAD
CA405645095 rs1461385725	425	G>S		No	ClinGen TOPMed
CA405645118 rs1184907158	426	N>S		No	ClinGen gnomAD
CA405645128 rs1361493520	427	A>S		No	ClinGen gnomAD
rs1264403946 CA405645139	427	A>V		No	ClinGen TOPMed
rs768411378 CA9412747	428	S>T		No	ClinGen ExAC gnomAD
rs774196898 CA9412748	430	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139287144 CA308076761	430	R>H		No	ClinGen 1000Genomes gnomAD
CA405645181 rs774196898	430	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA405645209 rs1600469499	433	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1555733831 CA405645272	436	Y>C		No	ClinGen Ensembl
CA405645282 rs1459508519	437	N>D		No	ClinGen TOPMed gnomAD
rs149594255 CA9412766	441	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA405645584 rs1600471566	443	L>P		No	ClinGen Ensembl
CA9412769 rs772599567	445	L>P		No	ClinGen ExAC gnomAD
rs771650795 CA9412768	445	L>V		No	ClinGen ExAC gnomAD
CA308077336 rs372484319	446	L>P		No	ClinGen ESP
CA9412770 rs760298504	447	Y>S		No	ClinGen ExAC gnomAD
rs916181370 CA308077354	449	I>T		No	ClinGen TOPMed gnomAD
CA308077351 rs766901058	449	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	451	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9412773 rs763269348	451	E>Q		No	ClinGen ExAC gnomAD
CA405646841 rs1190738398	454	P>S		No	ClinGen gnomAD
CA9412797 rs554658371	457	R>*		No	ClinGen ExAC TOPMed gnomAD
rs762226012 CA9412798	457	R>Q		No	ClinGen ExAC gnomAD
CA9412799 rs767614650	458	G>*		No	ClinGen ExAC gnomAD
CA9412800 rs773525571	458	G>E		No	ClinGen ExAC TOPMed gnomAD
rs760632891 CA9412801	460	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs766502334 CA9412802 CA405647189	463	M>I		No	ClinGen ExAC gnomAD
rs1568379099 CA405647161	463	M>K		No	ClinGen Ensembl
rs754971126 CA9412804	467	T>S		No	ClinGen ExAC gnomAD
CA405647347 rs1395813538	468	E>K		No	ClinGen TOPMed
rs996872931 CA308077444	469	S>A		No	ClinGen gnomAD
rs1400570059 CA405647538	473	T>S		No	ClinGen gnomAD
rs758260044 CA9412807	475	M>T		No	ClinGen ExAC gnomAD
rs752525796 CA9412806	475	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	478	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9412809 rs746702236	478	K>R		No	ClinGen ExAC TOPMed gnomAD
CA308077474 rs879895093	479	G>A		No	ClinGen Ensembl
CA405647702 rs1163966536	479	G>S		No	ClinGen TOPMed
CA9412811 rs756669848	480	I>V		No	ClinGen ExAC gnomAD
rs773023618 CA9412813	484	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773023618 CA308077483	484	P>R		No	ClinGen ExAC TOPMed gnomAD
rs374518921 CA9412817	485	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9412816 rs560292125	485	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA405648118 rs1380657431	488	L>P		No	ClinGen TOPMed gnomAD
CA405648101 rs1380657431	488	L>R		No	ClinGen TOPMed gnomAD
rs1031265163 CA308077504	489	I>T		No	ClinGen TOPMed gnomAD
CA9412818 rs773259030	491	I>T		No	ClinGen ExAC gnomAD
CA308077511 rs956900948	495	F>C		No	ClinGen TOPMed
rs1317122868 CA405648312	495	F>L		No	ClinGen gnomAD
TCGA novel	496	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230071562 CA405648376	497	L>P		No	ClinGen gnomAD
TCGA novel	498	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260952852 CA405648431	499	S>N		No	ClinGen gnomAD
CA405648716 rs1415559277	499	S>R		No	ClinGen TOPMed
TCGA novel	502	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371718026 CA9412842	502	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770022776 CA9412843	504	N>T		No	ClinGen ExAC gnomAD
rs1472756326 CA405648820	507	Y>S		No	ClinGen TOPMed
CA9412844 rs775514341	509	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA405648873 rs1253543574	511	F>Y		No	ClinGen TOPMed
rs145343283 CA308077896	512	P>L		No	ClinGen 1000Genomes
CA405648886 rs1600473547	512	P>S		No	ClinGen Ensembl
CA9412846 rs202065738	514	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs767128624 CA9412849	516	S>F		No	ClinGen ExAC gnomAD
rs750108677 CA9412850	517	I>V		No	ClinGen ExAC gnomAD
CA9412851 rs755574719	521	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1712224 rs140177794 CA9412853	523	S>L	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs779553878 CA9412852	523	S>T		No	ClinGen ExAC TOPMed gnomAD
CA9412855 rs778201417	525	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9412857 rs576285566	525	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778201417 CA9412856	525	R>S		No	ClinGen ExAC TOPMed gnomAD
CA308077953 rs986034771	528	V>L		No	ClinGen TOPMed
rs781521811 CA9412858	529	A>V		No	ClinGen ExAC TOPMed gnomAD
CA405649129 rs1388585072	532	T>I		No	ClinGen TOPMed
CA405649144 rs201664540	534	T>K		No	ClinGen ExAC TOPMed gnomAD
CA9412860 rs201664540	534	T>M		No	ClinGen ExAC TOPMed gnomAD
CA405649173 rs1413856465	536	E>G		No	ClinGen TOPMed
rs1270341841 CA405650543	537	I>L		No	ClinGen gnomAD
rs757841923 CA9412895	538	W>*		No	ClinGen ExAC TOPMed gnomAD
rs757841923 CA9412896	538	W>C		No	ClinGen ExAC TOPMed gnomAD
CA9412897 rs750798013	539	Y>C		No	ClinGen ExAC gnomAD
CA405650607 rs1244255831	540	L>P		No	ClinGen TOPMed gnomAD
CA9412898 rs200118141	541	L>P		No	ClinGen ExAC TOPMed gnomAD
CA405650635 rs1600474971	542	E>A		No	ClinGen Ensembl
rs780286459 CA9412899 COSM1750864	542	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749498461 CA9412900	543	G>R		No	ClinGen ExAC gnomAD
rs1600474994 CA405650695	545	Y>D		No	ClinGen Ensembl
rs748295280 CA9412903	546	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9412902 rs373564244	546	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376608525 CA308081712	547	V>A		No	ClinGen gnomAD
rs1193555280 CA405650756	548	Y>H		No	ClinGen TOPMed
CA9412905 rs370334373	549	Q>K		No	ClinGen ESP ExAC TOPMed
CA405650791 rs1326933767	549	Q>L		No	ClinGen gnomAD
rs770662657 CA9412907	554	K>R		No	ClinGen ExAC gnomAD
CA405650940 rs1223254782	555	G>D		No	ClinGen gnomAD
rs776295675 CA9412908	558	V>G		No	ClinGen ExAC gnomAD
CA9412910 rs759119788	559	H>D		No	ClinGen ExAC gnomAD
rs759119788 CA9412909	559	H>Y		No	ClinGen ExAC gnomAD
CA405651071 rs1465034692	560	I>T		No	ClinGen Ensembl
CA405651095 rs1482535944	561	S>N		No	ClinGen gnomAD
rs1232944707 CA405651182	565	M>I		No	ClinGen TOPMed
CA9412912 rs762604585	565	M>V		No	ClinGen ExAC gnomAD
rs1336558133 CA405651188	566	Q>*		No	ClinGen TOPMed
rs759087064 CA9412913	567	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs751003225 CA9412914	569	S>F		No	ClinGen ExAC TOPMed gnomAD
rs766667192 CA9412917	571	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs564838952 CA9412915	571	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs202186909 CA9412918	572	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA308081733 rs913036754	572	A>V		No	ClinGen Ensembl
CA9412919 rs202193668	574	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1392071196 CA405651342	576	T>A		No	ClinGen TOPMed
CA9412920 rs200132227	576	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405651369 rs1363925854	577	M>I		No	ClinGen gnomAD
rs1470340525 CA405651397	579	T>I		No	ClinGen TOPMed
rs1404789394 CA405651403	580	L>F		No	ClinGen gnomAD
CA405651400 rs1404789394	580	L>I		No	ClinGen gnomAD
rs1267927482 CA405651432	583	E>K		No	ClinGen gnomAD
rs10404036 CA308081735	584	D>H		No	ClinGen Ensembl
rs1340895888 CA405651473	585	S>G		No	ClinGen gnomAD
rs1345497556 CA405651573	589	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	592	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308081829 rs558465181	594	M>I		No	ClinGen 1000Genomes
TCGA novel	594	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9412945 rs150667046	595	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9412947 rs779808396	597	Q>E		No	ClinGen ExAC gnomAD
rs905282799 CA308081837	600	Q>*		No	ClinGen gnomAD
rs905282799 CA405651976	600	Q>E		No	ClinGen gnomAD
CA9412949 rs372780505	602	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	602	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1000937974 CA308081846	604	R>K		No	ClinGen Ensembl
rs773994271 CA405652072 CA9412950	604	R>S		No	ClinGen ExAC TOPMed gnomAD
rs200471284 CA9412952	606	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9412953 rs200471284	606	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9412954 rs759777754	607	P>S		No	ClinGen ExAC gnomAD
CA405652132 rs1267190870	608	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1329799186 CA405652184	610	Q>E		No	ClinGen gnomAD
CA9412956 rs118188687	610	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9412957 rs375987061	612	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	613	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9412961 rs751575420	614	Y>*		No	ClinGen ExAC
rs771018557 CA9412959	614	Y>*		No	ClinGen ExAC
rs750399964 CA9412963	615	Q>H		No	ClinGen ExAC
rs767320333 CA9412962	615	Q>K		No	ClinGen ExAC
rs1482996095 CA405652420	616	Q>*		No	ClinGen gnomAD
rs755918389 CA9412965	616	Q>H		No	ClinGen ExAC gnomAD
CA9412966 rs749162027	617	H>N		No	ClinGen ExAC TOPMed gnomAD
CA9412968 rs200400429	617	H>P		No	ClinGen ExAC gnomAD
CA9412967 rs749162027	617	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA9412970 rs201181657	618	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1459315113 CA405652588	619	S>N		No	ClinGen gnomAD
rs776952224 CA9412971	620	H>N		No	ClinGen ExAC gnomAD
rs1405974137 CA405652614	620	H>R		No	ClinGen gnomAD
rs574110592 CA9412972	621	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9412975 rs535055326 COSM3404180	625	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA9412974 rs775823317	625	R>W		No	ClinGen ExAC gnomAD
CA405652802 rs1287524033	626	K>N		No	ClinGen gnomAD
CA308082254 rs371412881	629	Y>H		No	ClinGen ESP TOPMed
CA9412997 rs149702541	630	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA405653310 rs1431192029 CA405653319	631	M>I		No	ClinGen TOPMed gnomAD
rs1600476662 CA405653293	631	M>T		No	ClinGen Ensembl
rs1250272549 CA405653336	632	L>H		No	ClinGen gnomAD
CA405653473 rs766389223	635	I>M		No	ClinGen ExAC gnomAD
CA9413000 rs760887654	635	I>V		No	ClinGen ExAC gnomAD
rs1434467855 CA405653479	636	D>N		No	ClinGen gnomAD
CA9413002 rs753859501	636	D>V		No	ClinGen ExAC gnomAD
rs759354178 CA9413003	639	P>S		No	ClinGen ExAC TOPMed gnomAD
rs765091923 CA405653589	641	S>*		No	ClinGen ExAC gnomAD
rs765091923 CA9413004	641	S>W		No	ClinGen ExAC gnomAD
CA405653688 rs1190260409	644	R>H		No	ClinGen TOPMed gnomAD
CA405653704 rs1190260409	644	R>L		No	ClinGen TOPMed gnomAD
CA405653672 rs1289389222	644	R>S		No	ClinGen gnomAD
CA405653733 rs1322750703	646	R>Q		No	ClinGen gnomAD
CA9413006 rs145502184	647	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9413007 rs3745953 VAR_059632	650	S>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA405653837 rs1162963359	651	P>L		No	ClinGen gnomAD
CA405653904 rs780493103	654	Y>D		No	ClinGen ExAC gnomAD
rs780493103 CA9413011	654	Y>H		No	ClinGen ExAC gnomAD
CA405653934 rs1161141723	655	T>A		No	ClinGen gnomAD
rs1466351899 CA405653974	657	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1412594990 CA405653988	658	E>K		No	ClinGen gnomAD
CA9413012 rs749812345	658	E>V		No	ClinGen ExAC gnomAD
CA9413013 rs143984653	659	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs143984653 CA308082285	659	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA405654012 rs146410790	659	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146410790 CA9413014	659	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs899755361 CA308082303	660	Y>C		No	ClinGen Ensembl
rs772316760 CA9413016	660	Y>H		No	ClinGen ExAC gnomAD
rs143170742 CA405654047	661	R>W		No	ClinGen ESP ExAC gnomAD
CA405654064 rs1314740976	662	A>E		No	ClinGen gnomAD
CA405654058 rs1283881223	662	A>T		No	ClinGen TOPMed gnomAD
CA308082311 rs1048253919	664	P>L		No	ClinGen Ensembl
rs375286948 CA9413020	664	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA405654104 rs1329102429	665	P>R		No	ClinGen gnomAD
rs765154474 CA9413022	666	R>S		No	ClinGen ExAC gnomAD
rs752518813 CA9413023	667	V>I		No	ClinGen ExAC gnomAD
CA9413025 rs762702134	668	L>V		No	ClinGen ExAC TOPMed gnomAD
CA405654147 rs1472887628	669	E>K		No	ClinGen TOPMed gnomAD
rs1472887628 CA405654149	669	E>Q		No	ClinGen TOPMed gnomAD
CA405654167 rs1183399906	670	R>G		No	ClinGen gnomAD
rs1003951349 CA308082324	670	R>H		No	ClinGen TOPMed gnomAD
rs1003951349 CA405654175	670	R>L		No	ClinGen TOPMed gnomAD
CA405654166 rs1183399906	670	R>S		No	ClinGen gnomAD
rs751240772 CA9413026	671	S>*		No	ClinGen ExAC gnomAD
rs1174777827 CA405654226	673	F>L		No	ClinGen TOPMed
CA9413027 rs756701637	675	N>D		No	ClinGen ExAC gnomAD
rs369312836 CA9413028	675	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390728284 CA405654258	675	N>S		No	ClinGen gnomAD
CA308082330 rs996941591	676	E>D		No	ClinGen TOPMed
CA405654279 rs1359980952	676	E>G		No	ClinGen gnomAD
CA405654271 rs750005994	676	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9413029 rs750005994	676	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1050810503 CA308082339	681	I>V		No	ClinGen TOPMed
CA405654392 rs3745954	682	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs890837402 CA308082342	682	Y>S		No	ClinGen TOPMed
rs1350300765 CA405654401	683	Q>*		No	ClinGen TOPMed gnomAD
CA9413033 rs372709656	683	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs778094195 CA9413034	685	L>V		No	ClinGen ExAC gnomAD
CA405654505 rs1342714946	688	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1277228135 CA405654604	693	H>R		No	ClinGen gnomAD
CA405654625 rs1442671641	694	S>F		No	ClinGen gnomAD
rs962680953 CA405654637	695	V>L		No	ClinGen TOPMed gnomAD
rs962680953 CA308082359	695	V>M		No	ClinGen TOPMed gnomAD
CA405654655 rs1568380944	696	Y>H		No	ClinGen Ensembl
rs747245722 CA405654686	697	D>E		No	ClinGen ExAC gnomAD
CA405654669 rs1182624974	697	D>N		No	ClinGen TOPMed gnomAD
CA9413036 rs771066410	698	K>R		No	ClinGen ExAC gnomAD
CA405654831 rs199742755	699	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199742755 CA9413070	699	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9413072 rs374391697	701	A>V		No	ClinGen ESP ExAC gnomAD
CA9413073 rs757735931	702	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1206783195 CA405654969	706	D>Y		No	ClinGen gnomAD
CA9413077 rs779995436	707	P>L		No	ClinGen ExAC gnomAD
CA405655000 rs1465443833	708	T>N		No	ClinGen gnomAD
rs867859319 CA308082508	709	W>*		No	ClinGen gnomAD
CA405655018 rs867859319	709	W>C		No	ClinGen gnomAD
rs1254338421 CA405655029	710	R>G		No	ClinGen gnomAD
rs1254338421 CA405655022	710	R>S		No	ClinGen gnomAD
rs971497544 CA308082511	712	W>*		No	ClinGen TOPMed gnomAD
CA405655143 rs1423944420	714	N>K		No	ClinGen TOPMed
rs1414104464 CA405655161	715	N>K		No	ClinGen TOPMed gnomAD
CA9413080 rs768558598	716	K>I		No	ClinGen ExAC gnomAD
rs778867060 CA9413081	718	D>H		No	ClinGen ExAC TOPMed gnomAD
CA405655240 rs1457377002	719	Q>E		No	ClinGen gnomAD
rs931010662 CA308082631	720	D>N		No	ClinGen TOPMed gnomAD
rs1568381418 CA405655465	722	Y>C		No	ClinGen Ensembl
CA405655456 rs1461215847	722	Y>H		No	ClinGen TOPMed
rs1568381418 CA405655461	722	Y>S		No	ClinGen Ensembl
rs1316357827 CA405655492	723	F>L		No	ClinGen TOPMed
CA308082632 rs895093457	723	F>Y		No	ClinGen TOPMed gnomAD
CA9413102 rs771790412	726	A>G		No	ClinGen ExAC gnomAD
CA405655593 rs139135794 CA405655596	727	S>R		No	ClinGen ESP TOPMed gnomAD
rs777422879 CA9413103	728	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746876211 CA9413104	729	W>L		No	ClinGen ExAC gnomAD
rs1396519070 CA405655614	729	W>R		No	ClinGen gnomAD
CA9413106 rs201400480	730	R>P		No	ClinGen 1000Genomes ExAC gnomAD
COSM1649463 CA9413105 rs201400480	730	R>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA405655682 rs759077102	732	A>E		No	ClinGen ExAC gnomAD
CA9413107 rs759077102	732	A>V		No	ClinGen ExAC gnomAD
CA9413110 rs374892753	734	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750732137 CA405657208	736	S>A		No	ClinGen ExAC gnomAD
rs750732137 CA9413112	736	S>P		No	ClinGen ExAC gnomAD
CA405657232 rs1333191955	737	I>T		No	ClinGen TOPMed
rs143041799 CA9413113	737	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1227900019 CA405657266	739	M>K		No	ClinGen gnomAD
rs1227900019 CA405657268	739	M>T		No	ClinGen gnomAD
CA9413114 rs147038011	740	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568381502 CA405657353	743	E>Q		No	ClinGen Ensembl
CA405657403 rs1219815927	745	I>T		No	ClinGen gnomAD
rs182097373 CA9413115	746	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA308082677 rs1046649583	747	N>S		No	ClinGen Ensembl
CA9413117 rs200091564	747	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1447099022 CA405657518	748	L>F		No	ClinGen gnomAD
CA9413118 rs138244200	749	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA405657570 rs1395460815	750	S>F		No	ClinGen gnomAD
rs906404641 CA308082699	751	A>P		No	ClinGen TOPMed gnomAD
CA308082694 rs906404641	751	A>T		No	ClinGen TOPMed gnomAD
rs777812320 CA9413120	752	Y>*		No	ClinGen ExAC gnomAD
rs184689060 COSM3822945 CA9413121	753	E>K	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	757	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405657808 rs1328047388	757	R>H		No	ClinGen TOPMed gnomAD
CA9413122 rs957475385	758	I>L		No	ClinGen TOPMed
CA405657976 rs1210683609	760	L>P		No	ClinGen TOPMed
CA9413124 rs757106735	762	K>T		No	ClinGen ExAC TOPMed gnomAD
CA405658111 rs1298693794	763	G>A		No	ClinGen gnomAD
rs745527652 CA9413126	764	T>S		No	ClinGen ExAC gnomAD
CA9413127 rs769361008	766	Y>*		No	ClinGen ExAC gnomAD
rs1289548840 CA405658196	766	Y>H		No	ClinGen gnomAD
CA9413128 rs775129078	767	S>R		No	ClinGen ExAC gnomAD
CA405658414 rs1463206496	771	F>L		No	ClinGen gnomAD
CA405658578 rs1179925157	775	Q>K		No	ClinGen gnomAD
CA405658605 rs1237824954	776	G>D		No	ClinGen TOPMed
TCGA novel	776	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766784081 CA9413133	777	H>L		No	ClinGen ExAC gnomAD
rs760903598 CA9413132	777	H>Y		No	ClinGen ExAC gnomAD
CA9413134 rs776771042	778	S>L		No	ClinGen ExAC gnomAD
CA405658703 rs776771042	778	S>W		No	ClinGen ExAC gnomAD
rs1600478519 CA405658715	779	F>S		No	ClinGen Ensembl
rs373010099 CA9413136	781	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs371927859 CA9413137	781	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373010099 CA308082777	781	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375180844 CA9413139	782	Q>L		No	ClinGen ESP ExAC gnomAD
CA9413141 rs756943858	783	S>*		No	ClinGen ExAC TOPMed gnomAD
CA405658848 rs1344800285	785	L>P		No	ClinGen Ensembl
rs781044564 CA405658858	786	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781044564 CA9413142	786	G>S		No	ClinGen ExAC TOPMed gnomAD
rs149645258 CA9413162	789	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1335408990 CA405659091	790	Q>H		No	ClinGen TOPMed
CA9413163 rs779804558	792	H>N		No	ClinGen ExAC TOPMed
rs753544913 CA9413164	792	H>R		No	ClinGen ExAC TOPMed gnomAD
CA9413165 rs754383308	793	S>G		No	ClinGen ExAC gnomAD
CA9413166 rs778484023	793	S>R		No	ClinGen ExAC gnomAD
rs377738375 CA308082958	804	P>A		No	ClinGen Ensembl
rs1426034535 CA405659386	805	G>S		No	ClinGen TOPMed
CA405659466 rs1449780256	808	E>K		No	ClinGen gnomAD
rs1449780256 CA405659467	808	E>Q		No	ClinGen gnomAD
CA405659518 rs1198307590	809	A>P		No	ClinGen gnomAD
CA405659515 rs1198307590	809	A>T		No	ClinGen gnomAD
rs369747572 CA9413170	810	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA405659568 rs369747572	810	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369747572 CA405659564	810	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs746187579 CA9413171	813	Q>P		No	ClinGen ExAC gnomAD
CA405659672 rs1189561481	814	E>G		No	ClinGen TOPMed
rs770163165 CA9413172	815	V>I		No	ClinGen ExAC gnomAD
rs1028334910 CA308082989	816	L>P		No	ClinGen TOPMed gnomAD
rs763240088 CA9413174	817	I>N		No	ClinGen ExAC gnomAD
rs763240088 CA405659758	817	I>T		No	ClinGen ExAC gnomAD
CA405659821 rs1371124784	819	R>C		No	ClinGen gnomAD
rs1042441335 CA308083018	821	S>L		No	ClinGen TOPMed gnomAD
CA308083006 rs1042441335	821	S>W		No	ClinGen TOPMed gnomAD
rs761840213 CA9413177	822	V>A		No	ClinGen ExAC gnomAD
CA405659922 rs761840213	822	V>G		No	ClinGen ExAC gnomAD
rs1294952388 CA405659910	822	V>L		No	ClinGen TOPMed gnomAD
CA308083024 rs1008141305	823	L>P		No	ClinGen TOPMed
CA9413178 rs767523747	823	L>V		No	ClinGen ExAC gnomAD
rs760493018 CA9413181	825	S>L		No	ClinGen ExAC gnomAD
CA405661380 rs1347412495	826	I>T		No	ClinGen gnomAD
CA9413241 rs766861985	826	I>V		No	ClinGen ExAC gnomAD
CA9413242 rs200588516	827	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9413246 rs748586217	832	K>E		No	ClinGen ExAC gnomAD
rs758673708 CA9413247	834	C>G		No	ClinGen ExAC gnomAD
rs758673708 CA9413248	834	C>S		No	ClinGen ExAC gnomAD
CA405661594 rs1160644818	837	Q>K		No	ClinGen gnomAD
TCGA novel	838	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405661608 rs1392938675	838	G>S		No	ClinGen gnomAD
CA405661620 rs1433686371	839	I>T		No	ClinGen TOPMed gnomAD
CA405661640 rs1382017344	840	S>R		No	ClinGen gnomAD
CA9413250 rs377045758	845	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368761760 CA308084301	846	E>G		No	ClinGen Ensembl
rs187860202 CA9413253	849	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745794312 CA9413252	849	M>T		No	ClinGen ExAC TOPMed gnomAD
CA405661869 rs1450396536	849	M>V		No	ClinGen TOPMed
rs370299906 CA9413254	850	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9413256 rs768265508	851	V>D		No	ClinGen ExAC gnomAD
CA405661949 rs1166594992	851	V>L		No	ClinGen TOPMed
rs761256917 CA9413258	852	N>S		No	ClinGen ExAC gnomAD
CA308084374 rs878928023	853	V>M		No	ClinGen TOPMed gnomAD
CA308084376 rs267605461	855	G>D		No	ClinGen Ensembl
rs148778627 CA9413284 CA405662287	858	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415943051 CA405662301	859	L>F		No	ClinGen TOPMed gnomAD
rs1415943051 CA405662296	859	L>I		No	ClinGen TOPMed gnomAD
CA9413285 rs141521094	860	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA308084384 rs145942827	862	Q>*		No	ClinGen Ensembl
CA405662360 rs1409055722	862	Q>R		No	ClinGen TOPMed
CA9413286 rs757406696	864	T>R		No	ClinGen ExAC gnomAD
CA9413289 rs756248679	867	G>E		No	ClinGen ExAC gnomAD
CA308084393 rs868057959	868	P>S		No	ClinGen TOPMed gnomAD
rs868057959 CA308084392	868	P>T		No	ClinGen TOPMed gnomAD
CA9413290 rs779910040	870	M>I		No	ClinGen ExAC gnomAD
CA405663393 rs1376467099	872	G>D		No	ClinGen gnomAD
CA405663404 rs1600486089	873	N>T		No	ClinGen Ensembl
rs747861443 CA9413314	875	M>I		No	ClinGen ExAC TOPMed gnomAD
CA9413313 rs778865139	875	M>K		No	ClinGen ExAC gnomAD
rs1041669859 CA308085564	875	M>L		No	ClinGen TOPMed
CA9413315 rs146226179	877	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9413317 rs746673830	878	V>G		No	ClinGen ExAC TOPMed gnomAD
rs777229822 CA9413316	878	V>M		No	ClinGen ExAC TOPMed gnomAD
rs776264746 CA9413319	880	I>T		No	ClinGen ExAC gnomAD
rs546376569 CA9413318	880	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs745419562 CA405663537	881	G>C		No	ClinGen ExAC TOPMed gnomAD
rs995308919 CA308085578	881	G>D		No	ClinGen gnomAD
rs745419562 CA9413320	881	G>S		No	ClinGen ExAC TOPMed gnomAD
rs996486983 CA308085579	882	C>F		No	ClinGen TOPMed
CA9413321 rs769252944	882	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1205362498 CA405663584	884	P>A		No	ClinGen gnomAD
CA9413322 rs774954294	884	P>L		No	ClinGen ExAC gnomAD
CA9413323 rs774954294	884	P>Q		No	ClinGen ExAC gnomAD
rs1474911075 CA405663606	885	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	886	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9413325 rs371214218	887	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444621774 CA405663630	887	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9413326 rs760876342	889	A>S		No	ClinGen ExAC
rs766638140 CA9413327	889	A>V		No	ClinGen ExAC
CA405663650 rs1395848757	890	F>V		No	ClinGen TOPMed gnomAD
rs374763660 CA308085594	891	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9413329 rs374763660	891	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA405663688 rs1396470496	892	I>V		No	ClinGen gnomAD
CA308085604 rs540657207	894	Y>C		No	ClinGen 1000Genomes
CA308085598 rs200676310	894	Y>H		No	ClinGen 1000Genomes gnomAD
CA9413332 rs752690172	895	T>M		No	ClinGen ExAC gnomAD
rs1568383923 CA405663814	897	E>*		No	ClinGen Ensembl
CA9413336 rs756947207	899	S>G		No	ClinGen ExAC gnomAD
CA405663891 rs1338462180	900	R>C		No	ClinGen TOPMed gnomAD
CA9413337 rs781029465	900	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	900	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308085615 rs891038545	902	K>E		No	ClinGen TOPMed gnomAD
rs769450901 CA9413339	905	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9413338 rs745331622	905	H>R		No	ClinGen ExAC gnomAD
rs1469972895 CA405664104	909	C>R		No	ClinGen gnomAD
rs1326012542 CA405664112	909	C>Y		No	ClinGen gnomAD
CA9413342 rs146429794	910	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9413344 COSM3938081 rs199876393	912	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs867844857 CA308085645	913	N>S		No	ClinGen Ensembl
CA308085649 rs958361735	914	P>A		No	ClinGen Ensembl
COSM3771039 rs1416332798 CA405664231	914	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	915	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9413346 rs771103829	917	P>T		No	ClinGen ExAC gnomAD
CA9413350 rs752781925	922	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9413349 rs201823945	922	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1436314366 CA405664479	924	I>S		No	ClinGen TOPMed
CA405664517 rs1485522698	927	P>S		No	ClinGen gnomAD
CA9413371 rs751564873	931	I>L		No	ClinGen ExAC gnomAD
rs761642565 CA9413372	937	G>E		No	ClinGen ExAC gnomAD
CA9413375 rs373200243	940	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9413376 rs149754338	945	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs781692391 CA9413399	951	V>M		No	ClinGen ExAC gnomAD
CA405664978 rs1568384160	952	G>D		No	ClinGen Ensembl
rs1600487153 CA405665007	954	G>E		No	ClinGen Ensembl
CA9413401 rs148888831	954	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9413402 rs148888831	954	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142610781 CA9413403	955	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs142610781 CA9413404	955	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600487177 CA405665031	956	T>P		No	ClinGen Ensembl
rs1457330115 CA405665067	958	D>H		No	ClinGen TOPMed
rs774551006 CA9413405	959	S>G		No	ClinGen ExAC TOPMed gnomAD
rs562170593 CA405665115	960	L>F		No	ClinGen ExAC TOPMed gnomAD
rs562170593 CA9413406	960	L>V		No	ClinGen ExAC TOPMed gnomAD
rs772096705 CA9413407	961	K>E		No	ClinGen ExAC gnomAD
rs1360325936 CA405665147	961	K>N		No	ClinGen gnomAD
TCGA novel	962	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	963	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9413410 rs760464118	965	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1320598811 CA405665248	966	D>G		No	ClinGen gnomAD
CA405665275 rs1337183963	967	E>D		No	ClinGen TOPMed
CA9413412 rs147603617	967	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1333468757 CA405665283	968	I>V		No	ClinGen gnomAD
rs529623583 CA9413413	969	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs141648079 CA9413414	970	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200497600 CA9413416	970	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200497600 CA9413415	970	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405665365 rs780277640	974	P>A		No	ClinGen ExAC gnomAD
CA9413419 rs780277640	974	P>S		No	ClinGen ExAC gnomAD
rs1343646666 CA405665382	975	L>P		No	ClinGen gnomAD
CA405665390 rs1600487324	976	D>G		No	ClinGen Ensembl
rs779310373 CA9413422	977	K>E		No	ClinGen ExAC gnomAD
rs779222288 CA9413441	979	N>S		No	ClinGen ExAC gnomAD
rs952658512 CA308086122	979	N>Y		No	ClinGen TOPMed gnomAD
CA9413442 rs752975419 CA405665503	980	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1600487900 CA405665568	983	W>C		No	ClinGen Ensembl
CA9413445 rs138332562	985	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279588859 CA405665689	990	T>N		No	ClinGen gnomAD
CA9413447 rs747158487	991	T>I		No	ClinGen ExAC gnomAD
TCGA novel	992	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405665708 rs1469639801	992	K>E		No	ClinGen gnomAD
rs781217081 CA9413449	995	A>D		No	ClinGen ExAC gnomAD
CA405665829 CA308086187 rs961197276	997	H>Q		No	ClinGen TOPMed gnomAD
rs1453030523 CA405665840	998	I>V		No	ClinGen gnomAD
CA405665911 rs1173381961	1000	S>F		No	ClinGen gnomAD
CA405665935 rs150283647	1001	H>Q		No	ClinGen ESP ExAC gnomAD
CA9413450 rs574265967	1001	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs138939969 CA9413453	1002	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA405666014 rs1445314885	1004	P>L		No	ClinGen gnomAD
rs768355442	1006	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs762588875 CA9413454	1006	I>F		No	ClinGen ExAC TOPMed gnomAD
CA405666068 rs768355442	1006	I>M		No	ClinGen ExAC TOPMed gnomAD
CA405666064 rs1482708858	1006	I>N		No	ClinGen TOPMed
rs757219657 CA9413484	1007	E>D		No	ClinGen ExAC gnomAD
rs761418633 CA9413457	1007	E>G		No	ClinGen ExAC gnomAD
CA9413456 rs773703205	1007	E>K		No	ClinGen ExAC TOPMed gnomAD
CA405666746 rs1368727876	1009	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1590025 rs756023189 CA9413488	1014	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs779998011 CA9413489	1015	P>T		No	ClinGen ExAC TOPMed gnomAD
CA308088985 rs901575525	1016	C>R		No	ClinGen gnomAD
rs1600490346 CA405666851	1017	Y>H		No	ClinGen Ensembl
rs1313490929 CA405666899	1022	Q>*		No	ClinGen gnomAD
rs1342300214 CA405666906	1023	G>S		No	ClinGen gnomAD
CA405666939 rs1341112144	1028	E>K		No	ClinGen TOPMed
rs747830095 CA9413493	1030	F>Y		No	ClinGen ExAC gnomAD
rs771676576 CA9413494	1033	V>M		No	ClinGen ExAC gnomAD
rs1376041020 CA9413497	1034	L>S		No	ClinGen gnomAD
rs1568385101 CA405667008	1037	N>S		No	ClinGen Ensembl
TCGA novel	1039	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9413522 rs749799535	1039	G>E		No	ClinGen ExAC gnomAD
CA9413521 rs369322220	1039	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs146365713 CA9413523	1040	V>E		No	ClinGen ESP ExAC gnomAD
rs138393521 CA9413524	1042	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA405667054 rs138393521	1042	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA405667092 rs1216297738	1045	Y>C		No	ClinGen gnomAD
CA9413527 rs773436158	1046	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA405667160 rs1213332590	1049	Q>*		No	ClinGen Ensembl
CA308089040 rs376743215	1050	L>P		No	ClinGen ESP TOPMed
rs766441123 CA9413529	1052	F>L		No	ClinGen ExAC TOPMed gnomAD
CA308089054 rs968767923	1052	F>S		No	ClinGen Ensembl
CA405667275 rs1192793219	1056	I>V		No	ClinGen TOPMed gnomAD
CA9413533 rs370863363	1057	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9413535 rs758153598 CA9413534	1058	G>R		No	ClinGen ExAC TOPMed gnomAD
rs935259641 CA308089072	1059	L>M		No	ClinGen Ensembl
CA405667337 rs1349499166	1060	P>S		No	ClinGen gnomAD
TCGA novel	1062	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9413538 rs780837428	1065	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757039518 CA9413537	1065	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1066	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9413539 rs745418941	1066	A>T		No	ClinGen ExAC TOPMed gnomAD
CA405667439 rs1279324985	1066	A>V		No	ClinGen TOPMed gnomAD
rs769175989 CA9413540	1067	L>F		No	ClinGen ExAC gnomAD
rs769175989 CA308089098	1067	L>I		No	ClinGen ExAC gnomAD
rs769175989 CA9413541	1067	L>V		No	ClinGen ExAC gnomAD
rs200301547 CA308089110	1069	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200301547 CA9413542	1069	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772429526 CA9413543	1070	I>M		No	ClinGen ExAC gnomAD
CA308089117 rs923163002	1071	M>L		No	ClinGen Ensembl
CA308089240 rs142473348	1072	V>L		No	ClinGen ESP TOPMed
rs1448120095 CA405667552	1074	A>T		No	ClinGen TOPMed gnomAD
CA9413567 rs769772405	1075	S>G		No	ClinGen ExAC gnomAD
rs112727056 CA405667565	1076	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112727056 CA9413569	1076	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA405667571 rs761732467	1077	F>C		No	ClinGen ExAC gnomAD
rs549955953 CA9413570	1077	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs761732467 CA308089250	1077	F>S		No	ClinGen ExAC gnomAD
rs549955953 CA9413571	1077	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9413572 rs761732467	1077	F>Y		No	ClinGen ExAC gnomAD
rs1312909310 CA405667592	1081	V>L		No	ClinGen gnomAD
rs1462601061 CA405667621	1085	I>V		No	ClinGen TOPMed
CA405667628 rs148618826	1086	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9413576 rs148618826	1086	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568385395 CA405667647	1088	C>W		No	ClinGen Ensembl
rs770766216 CA9413577	1088	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA9413578 rs374950558	1089	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA405667669 rs1306506606	1092	P>S		No	ClinGen TOPMed
TCGA novel	1093	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405667674 rs1172579484	1093	L>V		No	ClinGen gnomAD
CA308089259 rs757579145	1094	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757579145 CA9413581	1094	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746075891 CA9413583	1095	V>M		No	ClinGen ExAC gnomAD
rs1057336858 CA308089262	1096	K>*		No	ClinGen Ensembl
rs770115382 CA9413584	1096	K>T		No	ClinGen ExAC gnomAD
rs140943683 CA9413585	1097	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140943683 CA9413586	1097	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1274235250 CA405667707	1099	T>A		No	ClinGen gnomAD
CA9413587 rs768674555	1099	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1256263444 CA405667881	1101	I>S		No	ClinGen gnomAD
rs771758473 CA9413590	1102	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369302546 CA9413589	1102	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs904604358 CA308089285	1103	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs773114654 CA9413591	1103	W>*		No	ClinGen ExAC gnomAD
CA405667932 rs1450306305	1104	K>T		No	ClinGen gnomAD
rs1247839977 CA405667945	1105	I>L		No	ClinGen gnomAD
rs753302112 CA9413594	1106	N>D		No	ClinGen ExAC gnomAD
CA405667992 rs1420852934	1106	N>K		No	ClinGen gnomAD
CA405667986 rs1383383523	1106	N>S		No	ClinGen TOPMed
CA405667996 rs1157804364	1107	N>H		No	ClinGen gnomAD
CA9413595 rs759065373	1107	N>S		No	ClinGen ExAC gnomAD
rs150808375 CA9413598	1109	I>T		No	ClinGen ESP ExAC gnomAD
CA405668054 rs1252430501	1109	I>V		No	ClinGen TOPMed
rs750852120 CA9413600	1110	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1276155380 CA405668099	1112	E>A		No	ClinGen gnomAD
TCGA novel	1112	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9413601 rs756261445	1112	E>Q		No	ClinGen ExAC gnomAD
CA9413602 rs780456912	1113	S>A		No	ClinGen ExAC TOPMed gnomAD
CA405668131 rs1219316819	1114	Y>H		No	ClinGen gnomAD
rs1600491532 CA405668166	1116	T>P		No	ClinGen Ensembl
rs1034996655 CA308089302	1117	Y>N		No	ClinGen TOPMed
CA9413603 rs555054175	1118	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA9413604 rs768860416	1120	I>T		No	ClinGen ExAC gnomAD
CA9413605 rs376077607	1122	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9413606 rs748083478	1124	S>L		No	ClinGen ExAC TOPMed gnomAD
CA405668375 rs1477242242	1125	S>T		No	ClinGen TOPMed gnomAD
CA405668403 rs1389971356	1126	M>R		No	ClinGen TOPMed
rs1389971356 CA405668400	1126	M>T		No	ClinGen TOPMed
CA9413609 rs772848799	1127	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9413608 rs772848799	1127	P>R		No	ClinGen ExAC TOPMed gnomAD
CA308089311 rs868320208	1127	P>S		No	ClinGen TOPMed gnomAD
CA9413611 rs776275957	1129	L>Q		No	ClinGen ExAC gnomAD
CA9413612 rs758983649	1130	R>T		No	ClinGen ExAC TOPMed gnomAD
rs985962424 CA308089325	1131	H>R		No	ClinGen Ensembl
TCGA novel	1134	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365396552 CA405668683	1135	G>S		No	ClinGen TOPMed
rs1418272403 CA405668726	1136	S>F		No	ClinGen TOPMed
rs2286550 CA9413613 VAR_059633	1137	M>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1359805340 CA405668730	1137	M>V		No	ClinGen gnomAD
CA9413614 rs752263820	1139	S>G		No	ClinGen ExAC TOPMed gnomAD
CA405668839 rs1489665271	1139	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs762207975 CA9413615	1139	S>R		No	ClinGen ExAC gnomAD
rs1284931542 CA405668874	1140	S>C		No	ClinGen gnomAD
rs371589723 CA308089334	1140	S>P		No	ClinGen gnomAD
CA308089335 rs941751378	1141	R>K		No	ClinGen gnomAD
rs768111105 CA9413616	1141	R>S		No	ClinGen ExAC gnomAD
TCGA novel	1142	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308089341 rs1021127540	1143	T>I		No	ClinGen TOPMed
CA405668996 rs750715708	1146	R>K		No	ClinGen ExAC gnomAD
CA308089345 CA308089343 rs747268123	1146	R>S		No	ClinGen Ensembl
rs750715708 CA9413617	1146	R>T		No	ClinGen ExAC gnomAD
rs1600491740 CA405669085	1148	E>D		No	ClinGen Ensembl
rs780366843 CA9413619	1149	P>L		No	ClinGen ExAC gnomAD
rs147619980 CA9413618	1149	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754107803 CA9413620	1150	K>R		No	ClinGen ExAC gnomAD
CA405669175 rs1186487460	1151	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9413622 rs373199283	1152	A>T		No	ClinGen ESP ExAC gnomAD
rs145481167 CA405669236	1153	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145481167 CA9413624	1153	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200358034 CA9413625	1154	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs746719841 CA9413626	1157	L>S		No	ClinGen ExAC TOPMed gnomAD
CA405669393 rs745511536 CA9413629	1158	M>I		No	ClinGen ExAC gnomAD
rs776480205 CA9413628	1158	M>L		No	ClinGen ExAC TOPMed gnomAD
CA9413630 rs769488260	1159	T>A		No	ClinGen ExAC gnomAD
CA308089395 CA405669412 rs762550783	1160	T>R		No	ClinGen TOPMed

No associated diseases with Q6ZRH7

No regional properties for Q6ZRH7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6ZRH7

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium, flagellum membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
CatSper complex	A sperm-specific voltage-gated calcium channel that controls the intracellular calcium ion concentration and, thereby, the swimming behavior of sperm. Consists of a heteromeric tetramer surrounding a calcium ion- selective pore. May also contain additional auxiliary subunits.
motile cilium	A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
sperm principal piece	The segment of the sperm flagellum where the mitochondrial sheath ends, and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs. The principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MCGPAMFPAG	PPWPRVRVVQ	VLWALLAVLL	ASWRLWAIKD	FQECTWQVVL	NEFKRVGESG
70	80	90	100	110	120
VSDSFFEQEP	VDTVSSLFHM	LVDSPIDPSE	KYLGFPYYLK	INYSCEEKPS	EDLVRMGHLT
130	140	150	160	170	180
GLKPLVLVTF	QSPVNFYRWK	IEQLQIQMEA	APFRSKEPCM	AEEVCSMSWY	TPMPIKKGSV
190	200	210	220	230	240
VMRVDISSNG	LGTFIPDKRF	QMNINGFLKR	DRDNNIQFTV	GEELFNLMPQ	YFVGVSSRPL
250	260	270	280	290	300
WHTVDQSPVL	ILGGIPNEKY	VLMTDTSFKD	FSLVELSIDS	CWVGSFYCPH	SGFTATIYDT
310	320	330	340	350	360
IATESTLFIR	QNQLVYYFTG	TYTTLYERNR	GSGSWIRVLA	SECIKKLCPV	YFHSNGSEYI
370	380	390	400	410	420
MALTTGKHEG	YVHFGTIRDG	QVSFEMLPRQ	WSVCEQIGVT	TCSIIWSEYI	AGEYTLLLLV
430	440	450	460	470	480
ESGYGNASKR	FQVVSYNTAS	DDLELLYHIP	EFIPEARGLE	FLMILGTESY	TSTAMAPKGI
490	500	510	520	530	540
FCNPYNNLIF	IWGNFLLQSS	NKENFIYLAD	FPKELSIKYM	ARSFRGAVAI	VTETEEIWYL
550	560	570	580	590	600
LEGSYRVYQL	FPSKGWQVHI	SLKLMQQSSL	YASNETMLTL	FYEDSKLYQL	VYLMNNQKGQ
610	620	630	640	650	660
LVKRLVPVEQ	LLMYQQHTSH	YDLERKGGYL	MLSFIDFCPF	SVMRLRSLPS	PQRYTRQERY
670	680	690	700	710	720
RARPPRVLER	SGFHNENSLA	IYQGLVYYLL	WLHSVYDKPY	ADPVHDPTWR	WWANNKQDQD
730	740	750	760	770	780
YYFFLASNWR	SAGGVSIEMD	SYEKIYNLES	AYELPERIFL	DKGTEYSFAI	FLSAQGHSFR
790	800	810	820	830	840
TQSELGTAFQ	LHSQVDVGVV	LADPGCIEAS	VKQEVLINRN	SVLFSITLKD	KKLCYDQGIS
850	860	870	880	890	900
GHHLMETSMT	VNVVGSSGLC	FQETHLGPHM	QGNLMVPVFI	GCPPGKRLAF	DITYTLEYSR
910	920	930	940	950	960
LKNKHYFDCV	NVNPEMPCFL	FRDIFYPFFL	IQDLVTGDSG	SFQGSYVLLV	VGGGPTLDSL
970	980	990	1000	1010	1020
KDYSEDEIYR	FNSPLDKTNS	LIWTTRTTRT	TKDSAFHIMS	HESPGIEWLC	LENAPCYDNV
1030	1040	1050	1060	1070	1080
PQGIFAPEFF	FKVLVSNRGV	DTSTYCNYQL	TFLLHIHGLP	LSPKRALFII	MVSASVFVGL
1090	1100	1110	1120	1130	1140
VIFYIAFCLL	WPLVVKGCTM	IRWKINNLIA	SESYYTYASI	SGISSMPSLR	HSRMGSMFSS
1150
RMTEDRAEPK	EAVERQLMT