AiPD: Autoinhibited Protein Database

Q53TS8

Gene name	C2CD6
Protein name	Cation channel sperm-associated targeting subunit tau
Names	CatSper-tau, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein, C2 calcium-dependent domain-containing protein 6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:151254
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-119 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-119 (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 Q53TS8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q53TS8-F1	Predicted				AlphaFoldDB

1094 variants for Q53TS8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_086977	113	H>R	SPGF68; unknown pathological significance [UniProt]	Yes	UniProt
rs193920769 COSM1178628 COSM1178627 RCV000149084 CA174317	1752	L>S	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA63946024 rs972634101	3	P>Q		No	ClinGen TOPMed
CA350300390 rs1243562155	4	P>H		No	ClinGen gnomAD
rs140479973 CA2056242	4	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750770254 CA2056240	5	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2056239 rs750770254	5	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs750770254 CA350300358	5	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA2056238 rs562366899	5	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63945986 rs961258309	6	E>K		No	ClinGen TOPMed
rs374726511 CA2056235	7	T>K		No	ClinGen ESP TOPMed
rs768658617 CA2056233	10	P>L		No	ClinGen ExAC TOPMed gnomAD
CA63945943 rs543750295	10	P>T		No	ClinGen 1000Genomes gnomAD
CA2056232 rs763252180	12	S>N		No	ClinGen ExAC TOPMed gnomAD
CA350299807 rs1422500310	16	N>D		No	ClinGen gnomAD
CA63945914 rs936720766	16	N>S		No	ClinGen TOPMed
CA350299748 rs1305211692	17	R>H		No	ClinGen TOPMed
rs775530009 CA2056231	17	R>S		No	ClinGen ExAC gnomAD
CA2056230 rs745696043	18	S>R		No	ClinGen ExAC gnomAD
CA350299651 rs1476524610	19	G>A		No	ClinGen gnomAD
rs1206029133 CA350299670	19	G>R		No	ClinGen TOPMed
CA2056228 rs781024221	21	V>I		No	ClinGen ExAC gnomAD
CA350299559 rs1216031550	22	Q>R		No	ClinGen gnomAD
CA2056226 rs371352130	25	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs576035410 CA2056227	25	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA2056225 rs777433403	26	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757931914 CA2056224	28	P>L		No	ClinGen ExAC gnomAD
CA350299367 rs1320821033	28	P>S		No	ClinGen TOPMed gnomAD
CA350299267 rs1359471169	30	L>W		No	ClinGen gnomAD
CA2056223 rs752424588	32	R>G		No	ClinGen ExAC gnomAD
rs199607319 CA2056222	32	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2056221 rs754637551	32	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2056220 rs750811860	34	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1200729109 CA350299078	36	S>R		No	ClinGen TOPMed
rs764184155 CA350298953	39	D>H		No	ClinGen ExAC gnomAD
rs764184155 CA2056216	39	D>N		No	ClinGen ExAC gnomAD
rs1411832251 CA350298904	41	M>T		No	ClinGen gnomAD
rs1011263744 CA63945804	42	H>P		No	ClinGen Ensembl
rs571778398 CA2056214	44	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs377597020 CA2056212	45	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377597020 CA2056213	45	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056210 rs770790390	47	E>A		No	ClinGen ExAC gnomAD
CA2056209 rs746963689	47	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2056208 rs145254410	48	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2056207 rs149244760	50	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305379235 CA350298678	51	V>I		No	ClinGen gnomAD
CA2056205 rs778473776	52	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2056204 rs754655186	52	P>R		No	ClinGen ExAC gnomAD
CA350298661 rs778473776	52	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1574569614 CA350298628	53	Y>S		No	ClinGen Ensembl
CA2056202 rs138412181	54	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA350298595 rs138412181	54	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056203 rs138412181	54	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299076394 CA350298466	58	G>A		No	ClinGen gnomAD
rs1398371869 CA350298400	60	T>K		No	ClinGen TOPMed gnomAD
COSM2907473 CA350298382 COSM2907472 COSM2907474 rs1398371869	60	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1170155465 CA350298341	61	A>G		No	ClinGen gnomAD
rs758921862 CA2056198	63	P>H		No	ClinGen ExAC gnomAD
CA350298274 rs1222788671	63	P>S		No	ClinGen TOPMed
CA2056197 rs752783621	64	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1174084760 CA350298172	66	K>E		No	ClinGen TOPMed gnomAD
rs1188342434 CA350298133	68	Q>K		No	ClinGen TOPMed
CA2056196 rs765291829	70	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350298065 rs1420375299	70	G>V		No	ClinGen TOPMed
CA2056190 CA2056191 rs371902990	72	G>R		No	ClinGen ESP ExAC gnomAD
CA63945512 rs1049595877	73	H>Y		No	ClinGen Ensembl
rs773739882 CA2056187	74	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2056188 rs773739882	74	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2056189 rs771960807	74	R>W		No	ClinGen ExAC TOPMed gnomAD
rs965691791 CA63945503	76	L>P		No	ClinGen TOPMed gnomAD
CA2056186 rs145208430	77	N>S		No	ClinGen ESP ExAC gnomAD
CA2056159 rs142239704	78	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056160 rs772431062	78	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1574536898 CA350293111	83	L>F		No	ClinGen Ensembl
rs1428769235 CA350293103	83	L>R		No	ClinGen gnomAD
CA63930552 rs986893884	85	E>D		No	ClinGen TOPMed gnomAD
rs796761618 CA63930557	85	E>K		No	ClinGen Ensembl
CA2056158 rs779513993	88	S>G		No	ClinGen ExAC gnomAD
CA2056157 rs755518369	88	S>N		No	ClinGen ExAC gnomAD
CA350292955 rs1161925198	89	E>G		No	ClinGen TOPMed
CA350292934 rs1388418113	90	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754029930 CA2056156	90	E>G		No	ClinGen ExAC gnomAD
CA350292821 rs1559563356	94	T>I		No	ClinGen Ensembl
CA350292811 rs1327283174	95	Q>*		No	ClinGen gnomAD
rs756409997 CA2056154	95	Q>R		No	ClinGen ExAC gnomAD
CA350292706 rs1339746559	97	T>M		No	ClinGen gnomAD
CA2056153 rs564328750	97	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426487377 CA350292667	98	P>Q		No	ClinGen gnomAD
rs112132123 CA63930488	99	N>T		No	ClinGen Ensembl
rs139714069 CA2056150	101	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056149 rs764146178	103	F>S		No	ClinGen ExAC gnomAD
rs762869244 CA2056148	105	D>G		No	ClinGen ExAC
rs763876931 CA2056130	107	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1198589720 CA350292223	108	G>R		No	ClinGen gnomAD
rs758391991 CA2056129	109	C>S		No	ClinGen ExAC gnomAD
CA2056127 rs764770174	112	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350292121 rs1481609292	114	I>V		No	ClinGen TOPMed
CA2056124 rs148342903 CA2056126	115	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143341898 CA2056123	116	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs540943746 CA63929324	118	R>K		No	ClinGen 1000Genomes
rs201599266 CA2056122	119	H>R		No	ClinGen ExAC TOPMed gnomAD
rs769128145 CA2056121	121	M>V		No	ClinGen ExAC gnomAD
VAR_035787	123	K>M	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
CA350290446 rs1159414937	125	S>N		No	ClinGen TOPMed
rs1383061166 CA350290375	127	Q>P		No	ClinGen gnomAD
CA2056104 rs772715964	129	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs760433348 CA2056105	129	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs760433348 CA2056106	129	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA2056103 rs764591451	131	N>S		No	ClinGen ExAC gnomAD
CA350290226 rs1318440895	131	N>Y		No	ClinGen TOPMed gnomAD
CA2056102 rs534546906	132	L>F		No	ClinGen ExAC TOPMed gnomAD
CA63928645 rs552742733	132	L>V		No	ClinGen Ensembl
COSM1182639 COSM209563 rs370301019 COSM1182638 CA2056101	135	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs376409092 CA2056100	135	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1183760064 CA350290086	136	I>M		No	ClinGen gnomAD
CA2056099 rs201328395	136	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1016191977 CA63928625	137	S>A		No	ClinGen TOPMed
rs776834101 CA2056097	137	S>F		No	ClinGen ExAC TOPMed
CA350289862 rs770897562	141	A>P		No	ClinGen ExAC gnomAD
CA2056094 rs770897562	141	A>T		No	ClinGen ExAC gnomAD
rs1217237658 CA350289737	144	C>G		No	ClinGen TOPMed
rs1217237658 CA350289748	144	C>R		No	ClinGen TOPMed
CA350289669 rs1283874287	145	T>I		No	ClinGen gnomAD
rs199804981 CA2056093	147	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2056092 rs142361952	148	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772235860 CA2056091	149	S>I		No	ClinGen ExAC gnomAD
rs200827300 CA2056089	153	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1401369644 CA350289253	154	N>D		No	ClinGen gnomAD
CA350289213 rs369386634	154	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056088 rs146407058	154	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1559560689 CA350289185	155	D>G		No	ClinGen Ensembl
CA2056086 rs755545979	155	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2056085 rs755545979	155	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2056083 rs192777575	157	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1179742557 CA350288997	158	N>S		No	ClinGen gnomAD
CA350288914 rs1413412504	161	I>L		No	ClinGen gnomAD
CA350288846 rs1431693006	163	F>S		No	ClinGen TOPMed
rs1478803715 CA350288802	164	D>G		No	ClinGen gnomAD
CA2056078 rs761495499	164	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350288784 rs1434536296	165	E>*		No	ClinGen TOPMed
rs760143057 CA2056075	171	V>L		No	ClinGen ExAC gnomAD
rs576434498 COSM1482656 COSM1482655 COSM1482657 CA2056064	176	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2056062 rs756027630	176	R>H	Variant assessed as Somatic; 4.716e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756027630 CA2056063	176	R>L		No	ClinGen ExAC gnomAD
CA63916539 rs868075879	179	D>N		No	ClinGen Ensembl
rs199640900 CA350281274	181	R>P		No	ClinGen ExAC TOPMed gnomAD
rs199640900 CA2056057	181	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2056059 rs201483197	181	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA350281163 rs1398434997	186	L>S		No	ClinGen gnomAD
CA2056053 rs544192840	187	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs766812055 CA2056052	189	I>M		No	ClinGen ExAC gnomAD
CA350281096 rs1360972212	189	I>T		No	ClinGen gnomAD
rs779967832 CA63916482	189	I>V		No	ClinGen gnomAD
rs1360036465 CA350281076	190	Q>*		No	ClinGen TOPMed
rs1432545911 CA350280883	196	K>T		No	ClinGen TOPMed gnomAD
rs761105294 CA2056051	197	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773348413 CA2056050	197	R>H		No	ClinGen ExAC TOPMed gnomAD
CA350280841 rs1321316780	199	F>V		No	ClinGen TOPMed
CA2056048 rs762070438	202	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350280764 rs1215727238	204	V>I		No	ClinGen TOPMed
CA2056046 rs768881846	207	H>L		No	ClinGen ExAC TOPMed gnomAD
CA350280670 rs1574490371	211	V>I		No	ClinGen Ensembl
rs1263812327 CA350308349	215	G>R		No	ClinGen TOPMed
CA63956318 rs373343487	218	I>T		No	ClinGen ESP
rs190664699 CA2056022	220	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs745844509 CA2056021	222	Q>E		No	ClinGen ExAC gnomAD
rs776745503 CA2056020	223	V>M		No	ClinGen ExAC gnomAD
CA2056019 rs770945757	224	L>W		No	ClinGen ExAC gnomAD
CA63956309 rs1044432523	225	H>L		No	ClinGen TOPMed
CA2056018 rs186289650	228	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs186289650 CA2056017	228	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1025342512 CA63955679	229	F>S		No	ClinGen TOPMed
CA350307797 rs1157630469	232	R>G		No	ClinGen TOPMed
CA350307793 rs1559536824	232	R>K		No	ClinGen Ensembl
rs768247107 CA2055993	233	L>M		No	ClinGen ExAC TOPMed gnomAD
CA350307736 rs1574476311	235	V>G		No	ClinGen Ensembl
rs150213098 CA63955662	240	S>F		No	ClinGen ESP TOPMed
CA2055989 rs148117077	241	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2055990 rs148117077	241	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1260046042 CA350307597	243	N>K		No	ClinGen TOPMed gnomAD
rs1334854708 CA350307593	244	F>I		No	ClinGen TOPMed
CA63955643 rs113523433	245	G>D		No	ClinGen Ensembl
CA2055988 rs777760904	246	Y>C		No	ClinGen ExAC gnomAD
rs1338661044 CA350307524	248	F>L		No	ClinGen gnomAD
rs1453699386 CA350307501	249	S>L		No	ClinGen TOPMed
rs752675317 CA2055986	249	S>P		No	ClinGen ExAC gnomAD
rs1441005476 CA350305918	254	P>L		No	ClinGen gnomAD
rs1441005476 CA350305929	254	P>R		No	ClinGen gnomAD
rs779133058 CA350305907	255	L>F		No	ClinGen ExAC TOPMed gnomAD
rs779133058 CA2055967	255	L>V		No	ClinGen ExAC TOPMed gnomAD
CA350305884 rs1374119459	256	Q>L		No	ClinGen gnomAD
CA350305872 rs1173414147	257	K>E		No	ClinGen gnomAD
rs1420764954 CA350305863	257	K>R		No	ClinGen gnomAD
CA350305707 rs1463123349	263	M>V		No	ClinGen TOPMed
CA2055964 rs200050458	265	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350305538 rs1256634229	268	A>T		No	ClinGen TOPMed gnomAD
CA350305521 rs1217238323	268	A>V		No	ClinGen gnomAD
rs1278365330 CA350305509	269	P>L		No	ClinGen TOPMed gnomAD
CA2055962 rs750136673	270	P>S		No	ClinGen ExAC gnomAD
rs895147013 CA63954228	271	P>A		No	ClinGen Ensembl
rs201192567 CA63954225	273	R>K		No	ClinGen 1000Genomes
CA350305362 rs1356557435	275	D>G		No	ClinGen gnomAD
CA2055960 rs761586955	275	D>H		No	ClinGen ExAC TOPMed gnomAD
CA350305369 rs761586955	275	D>N		No	ClinGen ExAC TOPMed gnomAD
CA350305333 rs561368634	277	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2055958 rs561368634	277	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs776476421 CA2055957	278	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763629885 CA2055939	280	V>I		No	ClinGen ExAC gnomAD
rs73991652 CA2055938	282	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63950550 rs949909574	284	Q>K		No	ClinGen Ensembl
rs1460049417 CA350303239	284	Q>L		No	ClinGen gnomAD
CA350303130 rs1417293241	288	Y>H		No	ClinGen gnomAD
rs139497751 CA2055937	289	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63950544 rs867267346	290	A>T		No	ClinGen Ensembl
CA350303030 rs1185857888	292	L>F		No	ClinGen gnomAD
CA2055935 rs759109388	293	S>F		No	ClinGen ExAC TOPMed gnomAD
rs759109388 CA350303022	293	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1218983690 CA350302983	295	D>A		No	ClinGen TOPMed gnomAD
CA2055934 rs376366248	295	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA350302972 rs1258169803	296	L>R		No	ClinGen TOPMed gnomAD
CA350302967 rs1199919039	297	N>D		No	ClinGen gnomAD
rs748707112 CA2055932	300	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1326583816 CA350302916	300	V>I		No	ClinGen TOPMed
rs1214481415 CA350302890	301	G>E		No	ClinGen TOPMed gnomAD
rs373400892 CA2055931	301	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs749392544 CA2055929	303	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746061519 CA2055926	305	V>G		No	ClinGen ExAC TOPMed gnomAD
CA350302786 rs1332137362	306	Q>P		No	ClinGen gnomAD
CA2055924 rs757013612	307	S>T		No	ClinGen ExAC gnomAD
CA2055923 rs751312232	308	S>T		No	ClinGen ExAC gnomAD
rs181893808 CA2055921	309	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752322519 CA2055920	310	Q>*		No	ClinGen ExAC gnomAD
rs764643616 CA2055919	310	Q>L		No	ClinGen ExAC gnomAD
CA63950471 rs146388695	312	S>F		No	ClinGen ESP TOPMed gnomAD
rs753401223 CA2055917	314	V>M		No	ClinGen ExAC
COSM2907432 CA2055916 COSM2907431 rs201556443 COSM2907430	315	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs762292459 CA2055915	315	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774798015 CA2055914	319	L>P		No	ClinGen ExAC gnomAD
CA2055913 rs769289493	320	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA350302472 rs1294209466	322	Q>K		No	ClinGen gnomAD
CA350302431 rs144318430	324	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144318430 CA2055910	324	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs775696881 CA2055911	324	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1371331281 CA350302428	325	E>K		No	ClinGen gnomAD
CA63950449 rs61737309	326	R>G		No	ClinGen Ensembl
rs746138146 CA2055909	326	R>K		No	ClinGen ExAC
rs559362170 CA63937530	327	L>M		No	ClinGen 1000Genomes gnomAD
CA350295406 rs1414995737	329	K>N		No	ClinGen gnomAD
rs138185225 CA2055878	330	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2055877 rs138185225	330	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758121566 CA63937519	331	K>N		No	ClinGen Ensembl
CA350295356 rs1485609411	332	K>Q		No	ClinGen gnomAD
rs1559514906 CA350295314	333	E>*		No	ClinGen Ensembl
CA2055875 rs185532032	333	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1264378738 CA350295276	333	E>G		No	ClinGen gnomAD
CA350295258 rs1485018994	334	Y>H		No	ClinGen gnomAD
CA2055873 rs747223508	335	R>G		No	ClinGen ExAC TOPMed gnomAD
CA350295220 rs1337103760	335	R>K		No	ClinGen gnomAD
CA350295173 rs1157567343	337	L>M		No	ClinGen TOPMed
CA350295144 rs777597064	338	N>D		No	ClinGen ExAC TOPMed gnomAD
rs777597064 CA2055872	338	N>H		No	ClinGen ExAC TOPMed gnomAD
CA2055871 rs771824958	339	T>I		No	ClinGen ExAC TOPMed gnomAD
rs747935089 CA2055870	340	W>R		No	ClinGen ExAC TOPMed gnomAD
CA350295030 rs1311884995	341	I>M		No	ClinGen TOPMed gnomAD
rs1293807339 CA350295036	341	I>T		No	ClinGen gnomAD
CA2055869 rs142992074	341	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350294885 rs1459095468	345	N>I		No	ClinGen gnomAD
CA350294872 rs1391693128	345	N>K		No	ClinGen gnomAD
rs1226561587 CA350294822	347	L>*		No	ClinGen TOPMed
rs753290873 CA2055867	351	L>V		No	ClinGen ExAC gnomAD
rs779704472 CA2055866	352	M>R		No	ClinGen ExAC gnomAD
rs1195948161 CA350294547	355	L>V		No	ClinGen gnomAD
rs1303588013 CA350294508	357	H>Y		No	ClinGen TOPMed gnomAD
rs1427169697 CA350294479	358	K>E		No	ClinGen gnomAD
CA2055863 rs764589544	359	D>E		No	ClinGen ExAC TOPMed gnomAD
rs750076684 CA2055864	359	D>G		No	ClinGen ExAC gnomAD
rs1054880123 CA63937452	359	D>H		No	ClinGen TOPMed
rs1054880123 CA350294438	359	D>N		No	ClinGen TOPMed
rs147004680 CA2055804	362	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350294030 rs1390103127	363	T>N		No	ClinGen TOPMed
rs1396329254 CA350293976	365	I>T		No	ClinGen gnomAD
rs1390187039 CA350293983	365	I>V		No	ClinGen gnomAD
rs1574419311 CA350293946	367	E>*		No	ClinGen Ensembl
CA2055802 rs755491853	368	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1574419284 CA350293849	370	E>*		No	ClinGen Ensembl
CA2055800 rs151184776	370	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350293824 rs1227431755	371	N>K		No	ClinGen TOPMed
CA2055799 rs201367648	372	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760766252 CA2055798	373	K>E		No	ClinGen ExAC TOPMed
CA350293758 rs1264416709	374	S>N		No	ClinGen TOPMed
CA2055794 rs10804117 VAR_024769	376	H>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767639148 CA2055796	376	H>R		No	ClinGen ExAC gnomAD
CA63935845 rs17855553	377	P>S		No	ClinGen Ensembl
CA63935857 rs17855553	377	P>T		No	ClinGen Ensembl
rs1230091376 CA350293619	378	E>*		No	ClinGen Ensembl
CA350293546 rs1253277026	380	E>D		No	ClinGen TOPMed
CA2055792 rs140222056	384	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs775595975 CA2055791	385	V>A		No	ClinGen ExAC TOPMed gnomAD
CA350293432 rs1240462944	385	V>I		No	ClinGen gnomAD
CA2055790 rs769801970	387	V>I		No	ClinGen ExAC gnomAD
rs750570148 CA2055777	391	L>P		No	ClinGen ExAC gnomAD
rs1347855908 CA350289877	393	N>D		No	ClinGen TOPMed
rs1462979910 CA350289853	394	E>K		No	ClinGen TOPMed
CA2055775 rs767620225	395	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1235707465 CA350289779	396	A>G		No	ClinGen gnomAD
rs970075863 CA63929409	396	A>S		No	ClinGen TOPMed
rs751774908 CA2055773	400	A>V		No	ClinGen ExAC gnomAD
CA350289681 rs1432015479	401	N>D		No	ClinGen gnomAD
CA350289630 rs1347307894	401	N>K		No	ClinGen gnomAD
CA350288051 rs1212491536	405	D>G		No	ClinGen TOPMed
CA63928804 rs1011345411	405	D>Y		No	ClinGen TOPMed
CA350287796 rs1467680343	410	K>N		No	ClinGen TOPMed gnomAD
rs143180658 CA2055754	411	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868437955 CA63928789	412	L>P		No	ClinGen Ensembl
rs751540168 CA2055753	415	P>A		No	ClinGen ExAC TOPMed gnomAD
CA350287567 rs1271340183	418	N>S		No	ClinGen gnomAD
rs1574402560 CA350287577	418	N>Y		No	ClinGen Ensembl
rs763197632 CA2055751	420	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2055749 rs112376009	421	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350287314 rs1433131789	425	S>T		No	ClinGen TOPMed
rs942342247 CA63928760	426	T>A		No	ClinGen Ensembl
rs776665727 CA2055742	427	A>G		No	ClinGen ExAC TOPMed gnomAD
rs770728238 CA2055741	428	D>G		No	ClinGen ExAC gnomAD
rs760245560 CA2055739	429	A>V		No	ClinGen ExAC
CA2055738 rs372284639	430	S>P		No	ClinGen ESP ExAC gnomAD
rs1296450743 CA350287059	432	N>T		No	ClinGen TOPMed
rs771780239 CA2055737	434	E>Q		No	ClinGen ExAC
CA350286931 rs1391839209	435	S>L		No	ClinGen TOPMed
rs1171410613 CA350286858	437	P>L		No	ClinGen gnomAD
rs747787691 CA350286876	437	P>S		No	ClinGen ExAC gnomAD
CA2055736 rs747787691	437	P>T		No	ClinGen ExAC gnomAD
rs1453383050 CA350286839	438	S>*		No	ClinGen gnomAD
rs1205054915 CA350286719	442	V>G		No	ClinGen gnomAD
rs781733755 CA2055732	442	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2055733 COSM166434 rs781733755	442	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2055731 rs377135161	443	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2055729 rs777707907	443	H>P		No	ClinGen ExAC
rs777707907 CA2055730	443	H>R		No	ClinGen ExAC
CA63928708 rs377135161	443	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2055728 rs758745183	444	S>*		No	ClinGen ExAC
CA63928693 rs967553467	444	S>P		No	ClinGen Ensembl
CA350286585 rs1232402435	446	C>W		No	ClinGen TOPMed gnomAD
rs765519945 CA2055725	447	T>S		No	ClinGen ExAC gnomAD
rs1574402129 CA350286532	448	I>L		No	ClinGen Ensembl
rs754847532 CA2055724	448	I>M		No	ClinGen ExAC TOPMed gnomAD
CA63928670 rs1038570461	450	N>Y		No	ClinGen TOPMed gnomAD
CA350286380 rs1252479913	453	T>I		No	ClinGen TOPMed
rs1377079365 CA350286374	454	I>T		No	ClinGen gnomAD
rs1452636843 CA350286378	454	I>V		No	ClinGen TOPMed
rs148571033 CA2055721	456	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2055720 rs772839371	456	A>V		No	ClinGen ExAC gnomAD
CA350286338 rs1477982819	457	G>D		No	ClinGen TOPMed gnomAD
rs1363951857 CA350286322	458	R>*		No	ClinGen gnomAD
rs77540829 CA2055719	460	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350286292 rs77540829	460	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350286248 rs1416846778	462	L>S		No	ClinGen gnomAD
rs761491852 CA2055718	463	G>D		No	ClinGen ExAC gnomAD
COSM1404497 COSM1404495 rs147236648 CA2055717 COSM1404496	465	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs564532798 CA2055716	465	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2055715 rs539988411	467	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2055714 CA350286055 rs572558289	470	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483128402 CA350286004	472	D>E		No	ClinGen gnomAD
rs78719588 CA2055713	473	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78719588 CA350285994	473	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350285966 rs1303774011	474	K>I		No	ClinGen TOPMed
rs755883071 CA63928605	475	M>L		No	ClinGen Ensembl
rs1315243176 CA350285855	478	V>E		No	ClinGen gnomAD
CA350285872 rs1218185339	478	V>I		No	ClinGen gnomAD
rs747456159 CA2055712	481	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs975677947 CA63928601	483	E>K		No	ClinGen TOPMed
rs1291213437 CA350285749	484	V>I		No	ClinGen gnomAD
CA2055711 rs778042886	488	D>G		No	ClinGen ExAC gnomAD
rs1290312758 CA350285577	491	P>L		No	ClinGen TOPMed gnomAD
CA350285586 rs1385378336	491	P>S		No	ClinGen gnomAD
CA350285573 rs1451133899	492	S>G		No	ClinGen gnomAD
rs1344119969 CA350285545	493	I>T		No	ClinGen gnomAD
rs998358365 CA63928580 CA350285537	494	L>*		No	ClinGen gnomAD
CA63928588 rs1047194951	494	L>I		No	ClinGen Ensembl
rs1559506332 CA350285488	497	D>V		No	ClinGen Ensembl
rs1186414817 CA350285465	498	S>L		No	ClinGen gnomAD
CA2055707 rs185899029	499	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs988683780 CA63928570	500	L>V		No	ClinGen TOPMed
CA2055706 rs755185754	502	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1574322471 CA350316502	503	V>L		No	ClinGen Ensembl
CA63933855 rs917265163	506	S>*		No	ClinGen TOPMed
CA350316468 rs1393370405	507	P>S		No	ClinGen gnomAD
CA2055682 rs370218775	508	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252657892 CA350316447	509	E>G		No	ClinGen gnomAD
rs757115898 CA2055681	510	Y>*		No	ClinGen ExAC gnomAD
rs1365437446 CA350316438	510	Y>C		No	ClinGen TOPMed
rs140269287 CA2055680	512	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273740047 CA350315527	520	I>M		No	ClinGen gnomAD
rs1345225361 CA350315529	520	I>T		No	ClinGen gnomAD
CA350315534 rs1403657115	520	I>V		No	ClinGen TOPMed
CA63933823 rs1019903951	527	Q>*		No	ClinGen gnomAD
rs762713845 CA2055678	527	Q>P		No	ClinGen ExAC gnomAD
rs1559479813 CA350315371	528	F>L		No	ClinGen Ensembl
CA350315322 rs1271096943	531	F>S		No	ClinGen TOPMed gnomAD
CA63933282 rs986505335	532	N>S		No	ClinGen TOPMed gnomAD
CA350315304 rs1238980681	533	K>R		No	ClinGen TOPMed
rs1574319487 CA350315299	534	N>D		No	ClinGen Ensembl
rs760513916 CA63933275	535	G>S		No	ClinGen gnomAD
CA350315288 rs1456647839	535	G>V		No	ClinGen TOPMed gnomAD
CA2055668 rs201094705	538	P>S		No	ClinGen ExAC TOPMed gnomAD
rs953150834 CA63933259 CA350315224	544	N>K		No	ClinGen TOPMed gnomAD
rs1028681802 CA63933249	546	M>V		No	ClinGen TOPMed gnomAD
rs1413839401 CA350315178	549	R>S		No	ClinGen TOPMed
CA350315156 rs1448321704	551	R>I		No	ClinGen gnomAD
CA350315130 rs1472783421	553	D>E		No	ClinGen TOPMed
CA63933228 rs932443448	553	D>N		No	ClinGen Ensembl
CA350315126 rs1175493951	554	Q>E		No	ClinGen TOPMed
CA63933223 rs921078834	555	D>V		No	ClinGen gnomAD
CA350315066 rs1274406038	559	Y>C		No	ClinGen gnomAD
rs1356070858 CA350315035	562	I>N		No	ClinGen gnomAD
rs1235648944 CA350315039	562	I>V		No	ClinGen gnomAD
rs1391277228 CA350314999	566	E>G		No	ClinGen TOPMed
CA350314989 rs1305518524	567	V>D		No	ClinGen TOPMed
rs1352913082 CA350314980	568	I>T		No	ClinGen TOPMed
rs1020238761 CA63933215	569	E>K		No	ClinGen TOPMed gnomAD
rs1020238761 CA350314974	569	E>Q		No	ClinGen TOPMed gnomAD
CA350314957 rs1283116828	570	H>R		No	ClinGen TOPMed
CA350314936 rs1402286099	572	D>A		No	ClinGen gnomAD
rs1032007862 CA63933208	573	Q>R		No	ClinGen TOPMed gnomAD
rs1559479631	574	D>E		No	Ensembl
CA350314878 rs1431773199	578	P>A		No	ClinGen gnomAD
CA350314870 rs1328359704	579	A>T		No	ClinGen gnomAD
rs1318783951 CA350314844	581	S>*		No	ClinGen gnomAD
CA350314811 rs1403492391	585	G>R		No	ClinGen TOPMed gnomAD
CA350314770 rs1412829016	589	T>K		No	ClinGen gnomAD
CA63933205 rs758012730	590	T>A		No	ClinGen TOPMed gnomAD
CA63933170 rs895699196	591	W>S		No	ClinGen TOPMed gnomAD
rs780961176 CA2055663	592	A>V		No	ClinGen ExAC gnomAD
CA350314733 rs1245884178	593	H>R		No	ClinGen TOPMed gnomAD
CA350314727 rs1035943405	594	D>H		No	ClinGen TOPMed
CA63933169 rs1035943405	594	D>N		No	ClinGen TOPMed
rs1216122695 CA350314695	597	I>N		No	ClinGen TOPMed gnomAD
CA350314693 rs1216122695	597	I>T		No	ClinGen TOPMed gnomAD
CA350314697 rs1254290858	597	I>V		No	ClinGen gnomAD
rs757242620 CA2055662	599	T>A		No	ClinGen ExAC TOPMed gnomAD
CA350314674 rs1309359005	599	T>K		No	ClinGen TOPMed
CA63933152 rs553044717	600	T>I		No	ClinGen Ensembl
rs978083258 CA63933146	605	T>I		No	ClinGen TOPMed gnomAD
rs1001342883 CA63933126	612	D>Y		No	ClinGen TOPMed
CA63933124 rs905969233	613	P>S		No	ClinGen TOPMed
CA350314555 rs1231540978	614	T>N		No	ClinGen gnomAD
rs1341899654 CA350314541	616	N>S		No	ClinGen gnomAD
CA63933123 rs967105511	617	T>I		No	ClinGen gnomAD
rs1371852221 CA350314513	620	G>D		No	ClinGen gnomAD
CA2055661 rs751475454	624	K>N		No	ClinGen ExAC gnomAD
rs374959135 CA63933111	625	N>K		No	ClinGen Ensembl
rs1434229470 CA350314479	625	N>S		No	ClinGen gnomAD
rs1349163156 CA350314439	630	N>K		No	ClinGen gnomAD
CA63933105 rs931343088	633	N>H		No	ClinGen TOPMed gnomAD
rs1025012419 CA63933098	633	N>K		No	ClinGen TOPMed
rs184929005 CA2055660	633	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA350314410 rs1167609341	635	S>F		No	ClinGen gnomAD
CA350314396 rs1266462499	638	S>R		No	ClinGen TOPMed
CA350314333 rs1443255471	642	E>D		No	ClinGen TOPMed gnomAD
CA350314293 rs1454410110	646	A>S		No	ClinGen gnomAD
CA63933093 rs944300554	647	G>R		No	ClinGen TOPMed
rs1487872261 CA350314229	651	A>E		No	ClinGen gnomAD
rs895259985 CA63933076	653	T>I		No	ClinGen Ensembl
rs1208759548 CA350314196	654	C>R		No	ClinGen TOPMed gnomAD
rs1033817642 CA63933062	654	C>Y		No	ClinGen Ensembl
CA350314147 rs995694498	657	S>L		No	ClinGen TOPMed gnomAD
CA63933054 rs995694498	657	S>W		No	ClinGen TOPMed gnomAD
rs548289102 CA2055658	659	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs548289102 CA350314110	659	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1559479327 CA350313927	670	K>*		No	ClinGen Ensembl
CA350313879 rs1361515517	671	Q>R		No	ClinGen TOPMed
CA350313860 rs1279442270	672	S>L		No	ClinGen TOPMed gnomAD
CA350313856 rs1559479310	673	M>V		No	ClinGen Ensembl
rs898709756 CA63933033	676	K>E		No	ClinGen Ensembl
CA63933018 rs1037697768	676	K>M		No	ClinGen gnomAD
CA350313682 rs1299834595	683	L>M		No	ClinGen TOPMed
CA350313671 rs1574318429	684	Q>R		No	ClinGen Ensembl
CA2055657 rs764802473	686	L>F		No	ClinGen ExAC gnomAD
rs1245100805 CA350313641	687	S>L		No	ClinGen TOPMed
CA2055656 rs759226164	688	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2055655 rs750879763	690	L>S		No	ClinGen ExAC TOPMed gnomAD
CA63933001 rs940318967	697	S>T		No	ClinGen gnomAD
CA350313527 rs1484654831	698	M>T		No	ClinGen TOPMed
rs1307117839 CA350313492	701	E>K		No	ClinGen gnomAD
rs1434957329 CA350313380	707	S>N		No	ClinGen gnomAD
CA350313306 rs1248060909	711	L>V		No	ClinGen TOPMed
rs890786452 CA63932992	713	I>M		No	ClinGen TOPMed gnomAD
CA350313181 rs1432145830	717	S>P		No	ClinGen gnomAD
CA350313142 rs1375245188	719	S>N		No	ClinGen gnomAD
rs762452147 CA2055653	719	S>R		No	ClinGen ExAC gnomAD
rs1178311653 CA350313086	722	E>G		No	ClinGen gnomAD
rs988464609 CA63932977	723	D>G		No	ClinGen TOPMed gnomAD
rs775027126 CA350313036	724	N>K		No	ClinGen ExAC TOPMed gnomAD
rs749548663 CA63932976	725	V>I		No	ClinGen TOPMed gnomAD
CA63932974 rs921026476	726	L>*		No	ClinGen TOPMed gnomAD
rs1054177056 CA63932962	726	L>F		No	ClinGen Ensembl
CA63932973 rs921026476	726	L>S		No	ClinGen TOPMed gnomAD
CA350313001 rs1258044840	727	E>G		No	ClinGen TOPMed gnomAD
rs769155495 CA2055651	729	K>E		No	ClinGen ExAC gnomAD
rs141800927 CA2055648	731	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1381233497 CA350312817	735	W>C		No	ClinGen TOPMed
CA350312766 rs1403022598	739	K>E		No	ClinGen gnomAD
rs562619050 CA63932915	739	K>R		No	ClinGen 1000Genomes
CA350312597 rs1348485994	753	K>*		No	ClinGen gnomAD
CA350312579 rs924500759	755	I>S		No	ClinGen TOPMed gnomAD
rs924500759 CA63932912	755	I>T		No	ClinGen TOPMed gnomAD
CA63932909 rs897212132	757	A>V		No	ClinGen TOPMed gnomAD
CA63932904 rs977737315	759	S>L		No	ClinGen Ensembl
rs1357109497 CA350312536	762	E>A		No	ClinGen TOPMed gnomAD
rs1460647585 CA350312532	762	E>D		No	ClinGen TOPMed
rs76920986 CA2055647	764	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350312475 rs1465194527	770	I>N		No	ClinGen TOPMed gnomAD
rs1465194527 CA350312476	770	I>T		No	ClinGen TOPMed gnomAD
CA350312468 rs1574317890	771	P>L		No	ClinGen Ensembl
rs1336170228 CA350312467	772	A>T		No	ClinGen Ensembl
rs868822937 CA63932902	773	D>Y		No	ClinGen Ensembl
CA63932888 rs777965603	780	Q>P		No	ClinGen Ensembl
rs12997958 CA63932878	784	N>S		No	ClinGen Ensembl
CA63932861 rs992171595	790	L>P		No	ClinGen Ensembl
rs1410484903 CA350312330	792	E>G		No	ClinGen gnomAD
rs769974333 CA63932856	793	G>E		No	ClinGen Ensembl
CA63932845 rs878894351	794	G>C		No	ClinGen Ensembl
CA350312319 rs1471799949	794	G>D		No	ClinGen TOPMed
rs1182069853 CA350312283	799	N>T		No	ClinGen TOPMed gnomAD
rs1389656369 CA350312263	802	A>T		No	ClinGen TOPMed
rs891400578 CA63932823	803	D>V		No	ClinGen TOPMed
CA63932813 rs866600731	808	S>G		No	ClinGen Ensembl
CA350312221 rs1485354250	808	S>N		No	ClinGen gnomAD
CA350312205 rs1180360949	810	P>L		No	ClinGen gnomAD
CA350312151 rs1210747705	818	E>D		No	ClinGen gnomAD
rs556828767 CA63932811	818	E>G		No	ClinGen TOPMed gnomAD
rs1327151080 CA350312146	819	H>R		No	ClinGen TOPMed gnomAD
CA2055645 rs746076741	819	H>Y		No	ClinGen ExAC
rs1336712222 CA350312118	823	K>R		No	ClinGen gnomAD
rs1278911432 CA350312110	824	H>R		No	ClinGen TOPMed
rs995640676 CA63932802 COSM1591730	826	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs781265684 CA63932793	827	A>D		No	ClinGen TOPMed gnomAD
CA63932786 rs1004856400	832	F>L		No	ClinGen TOPMed
rs1574317424 CA350312045	833	P>L		No	ClinGen Ensembl
CA63932784 rs1050690980	834	I>M		No	ClinGen Ensembl
CA63932783 rs770680453	837	N>K		No	ClinGen ExAC TOPMed gnomAD
CA63932769 rs752092376	838	S>C		No	ClinGen Ensembl
CA350312010 rs1387245949	838	S>T		No	ClinGen gnomAD
CA350311977 rs1159124533	842	K>N		No	ClinGen TOPMed gnomAD
rs1203263748 CA350311972	843	K>T		No	ClinGen TOPMed
rs371845860 CA63932756	847	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350311942 rs1462381977	847	S>T		No	ClinGen gnomAD
rs181442737 CA2055641	848	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758290603 CA2055640	849	V>A		No	ClinGen ExAC gnomAD
CA350311888 rs1171071120	855	G>V		No	ClinGen TOPMed
CA350311851 rs1190733600	861	H>R		No	ClinGen gnomAD
CA350311840 CA350311841 rs1463634535	862	D>E		No	ClinGen gnomAD
CA2055639 rs374227776	863	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63932734 rs924421820	863	Y>H		No	ClinGen TOPMed gnomAD
CA350311839 rs924421820	863	Y>N		No	ClinGen TOPMed gnomAD
CA63932721 rs928575308	865	M>I		No	ClinGen TOPMed
CA2055638 rs369529652	866	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263459189 CA350311810	867	Q>*		No	ClinGen gnomAD
CA63932714 rs949978850	872	P>T		No	ClinGen TOPMed gnomAD
rs917188554 CA63932709	873	I>V		No	ClinGen Ensembl
rs992122191 CA63932685	878	E>D		No	ClinGen TOPMed gnomAD
rs754730958 CA2055637	878	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1225687901 CA350311687	881	V>A		No	ClinGen gnomAD
CA350311690 rs1559478832	881	V>M		No	ClinGen Ensembl
rs959369176 CA63932681	883	E>G		No	ClinGen Ensembl
CA350311628 rs1325928667	887	T>I		No	ClinGen gnomAD
CA63932651 rs926644436	888	P>S		No	ClinGen TOPMed
rs6743951 CA2055636	890	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1207928980 CA350311583	891	L>F		No	ClinGen TOPMed
rs188933927 CA63932643	893	N>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA350311543 rs1451419253	895	L>*		No	ClinGen TOPMed
CA350311535 rs1197259550	896	P>A		No	ClinGen TOPMed
rs1016166018 CA63932642	899	W>*		No	ClinGen Ensembl
CA350311427 rs1170753863	907	I>V		No	ClinGen TOPMed gnomAD
rs757715680 CA2055634	908	L>I		No	ClinGen ExAC gnomAD
CA350311407 rs1194263017	909	F>V		No	ClinGen TOPMed gnomAD
CA63932628 rs878897715	917	I>L		No	ClinGen Ensembl
CA63932627 rs866475932	917	I>T		No	ClinGen TOPMed
rs1434973009 CA350311311	918	E>Q		No	ClinGen gnomAD
CA350311286 rs753751840	920	P>S		No	ClinGen TOPMed
CA63932626 rs753751840	920	P>T		No	ClinGen TOPMed
rs1265251980 CA350311276	921	Q>P		No	ClinGen gnomAD
rs1026836178 CA63932614	922	P>S		No	ClinGen TOPMed gnomAD
CA350311231 rs1574316795	926	T>I		No	ClinGen Ensembl
rs1559478717 CA350311229	927	S>G		No	ClinGen Ensembl
CA350311213 rs1331317740	929	I>V		No	ClinGen TOPMed
CA350311204 rs1480858238	930	I>K		No	ClinGen gnomAD
CA350311203 rs1480858238	930	I>T		No	ClinGen gnomAD
CA2055632 rs764510486	935	I>V		No	ClinGen ExAC TOPMed gnomAD
CA350311151 rs1202607784	937	T>A		No	ClinGen gnomAD
CA63932605 rs760310840	938	L>V		No	ClinGen TOPMed gnomAD
CA63932602 rs961784724	943	I>T		No	ClinGen TOPMed
CA2055631 rs202076568	944	I>F		No	ClinGen ExAC TOPMed gnomAD
CA350311084 rs1208417062	945	K>E		No	ClinGen TOPMed
CA63932588 rs1029875302	947	I>T		No	ClinGen Ensembl
rs1328829274 CA350311041	948	E>D		No	ClinGen TOPMed gnomAD
CA350311044 rs1214987866	948	E>G		No	ClinGen gnomAD
CA350311035 rs1299871193	949	L>V		No	ClinGen gnomAD
rs1371578497 CA350310965	953	H>N		No	ClinGen TOPMed gnomAD
rs1371578497 CA350310962	953	H>Y		No	ClinGen TOPMed gnomAD
rs1008680976 CA63932585	954	H>R		No	ClinGen TOPMed
rs775490900 CA2055629	956	S>C		No	ClinGen ExAC TOPMed gnomAD
rs891124972 CA63932582	957	S>Y		No	ClinGen TOPMed gnomAD
rs765336967 CA2055628	959	L>P		No	ClinGen ExAC TOPMed gnomAD
rs899504159 CA63932580	961	T>M		No	ClinGen TOPMed gnomAD
rs1295879443 CA350310830	962	G>E		No	ClinGen TOPMed gnomAD
CA350310832 rs1198114160	962	G>W		No	ClinGen TOPMed gnomAD
CA350310761 rs1574316474	967	K>T		No	ClinGen Ensembl
rs1179831745 CA350310753	968	G>R		No	ClinGen gnomAD
rs1390447475 CA350310737	969	N>Y		No	ClinGen TOPMed
rs1435153305 CA350310693	972	D>H		No	ClinGen TOPMed
CA63932574 rs1000339922	973	S>F		No	ClinGen TOPMed gnomAD
CA63932570 rs904084430	975	E>A		No	ClinGen TOPMed gnomAD
CA350310636 rs904084430	975	E>V		No	ClinGen TOPMed gnomAD
CA2055624 rs771085201	981	R>T		No	ClinGen ExAC gnomAD
CA350310504 rs1233173216	983	E>K		No	ClinGen TOPMed gnomAD
rs1351567112 CA350310481	984	T>I		No	ClinGen TOPMed gnomAD
CA350310476 rs1351567112	984	T>R		No	ClinGen TOPMed gnomAD
rs767000849 CA63932563	987	L>V		No	ClinGen TOPMed gnomAD
rs1408443654 CA350310410	989	E>D		No	ClinGen gnomAD
CA350310422 rs1574316332	989	E>K		No	ClinGen Ensembl
rs1350228323 CA350310380	991	S>N		No	ClinGen gnomAD
CA2055623 rs368382093	992	I>T		No	ClinGen ExAC gnomAD
CA2055622 rs773055307	993	P>S		No	ClinGen ExAC gnomAD
rs1266437309 CA350310349	994	I>L		No	ClinGen TOPMed
CA63932541 rs1041916685	995	I>V		No	ClinGen TOPMed
CA2055621 rs771964894	996	P>S		No	ClinGen ExAC
rs949918821 CA63932521	997	K>E		No	ClinGen TOPMed
rs1209419683 CA350310254	999	T>S		No	ClinGen TOPMed
rs1270071739 CA350310209	1002	V>I		No	ClinGen gnomAD
CA63932517 rs895703341	1003	S>T		No	ClinGen gnomAD
CA350310074 rs1574316202	1008	I>M		No	ClinGen Ensembl
CA63932513 rs945545316	1008	I>T		No	ClinGen TOPMed gnomAD
rs1454370441 CA350310086	1008	I>V		No	ClinGen gnomAD
CA350310071 rs1156834364	1009	Q>*		No	ClinGen gnomAD
rs1472166663 CA350309945	1014	M>I		No	ClinGen gnomAD
rs1559478454 CA350309952	1014	M>V		No	ClinGen Ensembl
CA350309933 rs1257922305	1015	F>S		No	ClinGen gnomAD
CA350309897 rs1189222927	1017	Q>K		No	ClinGen gnomAD
rs1440279467 CA350309758	1023	S>*		No	ClinGen gnomAD
CA63932499 rs1055713185	1024	I>T		No	ClinGen TOPMed gnomAD
CA350309663 rs1189579759	1029	L>R		No	ClinGen TOPMed
rs554569004 CA2055620	1030	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs937281449 CA63932461	1032	P>Q		No	ClinGen gnomAD
rs1330583601 CA350309600	1033	R>G		No	ClinGen gnomAD
rs1270626967 CA350309557	1035	G>C		No	ClinGen TOPMed gnomAD
CA2055619 rs778330171	1038	L>F		No	ClinGen ExAC gnomAD
CA350309485 rs1328940817	1038	L>P		No	ClinGen gnomAD
CA2055617 rs2714482	1039	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2055618 rs2714482	1039	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350309470 rs2714482	1039	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200715227 CA2055616	1043	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63932416 rs928294985	1044	D>H		No	ClinGen TOPMed gnomAD
CA350309351 rs1338995470	1045	L>F		No	ClinGen gnomAD
rs1333741437 CA350309327	1046	S>N		No	ClinGen gnomAD
rs1435971910 CA350309299	1047	S>P		No	ClinGen gnomAD
COSM1482648 CA350309225 rs1390891052	1051	S>T	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1336691378 CA350309200	1053	T>A		No	ClinGen TOPMed
CA63932391 rs184438720	1056	L>*		No	ClinGen 1000Genomes
rs1418912299 CA350309155	1056	L>I		No	ClinGen TOPMed gnomAD
CA350309138 rs1456598324	1057	M>R		No	ClinGen gnomAD
CA350309134 rs1456598324	1057	M>T		No	ClinGen gnomAD
CA2055615 rs755756516	1057	M>V		No	ClinGen ExAC gnomAD
CA350309087 rs1331419234	1060	L>F		No	ClinGen TOPMed
rs770776442 CA2055614	1060	L>H		No	ClinGen ExAC TOPMed gnomAD
CA2055613 rs770776442	1060	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2055612 rs199715740	1065	E>K		No	ClinGen ExAC TOPMed gnomAD
CA63932382 CA350308981 rs983319501	1067	M>I		No	ClinGen TOPMed gnomAD
CA350308970 rs1471682904	1068	L>S		No	ClinGen gnomAD
CA350308933 rs1574315776	1070	S>P		No	ClinGen Ensembl
CA350308918 rs1367587930	1071	F>L		No	ClinGen gnomAD
rs1193423019 CA350308889	1072	L>*		No	ClinGen gnomAD
CA350308883 rs1574315755	1072	L>F		No	ClinGen Ensembl
rs115193027 CA2055610	1077	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs115193027 CA350308821	1077	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350308765 rs1251462085	1081	K>T		No	ClinGen gnomAD
rs1291214158 CA350308743	1082	Y>F		No	ClinGen gnomAD
rs975615290 CA63932323	1083	N>S		No	ClinGen gnomAD
rs1283867357 CA350308699	1086	E>K		No	ClinGen gnomAD
rs1229364452 CA350308686	1087	R>G		No	ClinGen gnomAD
rs1367473746 CA350308635	1089	G>E		No	ClinGen gnomAD
rs867173840 CA63932317	1089	G>R		No	ClinGen Ensembl
CA350308533 rs1434282659	1095	L>S		No	ClinGen gnomAD
rs1402406085 CA350308494	1097	R>T		No	ClinGen Ensembl
rs1350462763 CA350308474	1098	L>R		No	ClinGen gnomAD
rs1016134681 CA63932311	1100	Q>K		No	ClinGen TOPMed
CA350308375 rs1305248155	1104	T>K		No	ClinGen gnomAD
CA350308365 rs1172721896	1105	S>R		No	ClinGen TOPMed
rs566856231 CA63932304	1110	L>F		No	ClinGen TOPMed gnomAD
CA63932302 rs986905863	1112	E>Q		No	ClinGen TOPMed gnomAD
CA350308183 rs1450891854	1113	L>P		No	ClinGen gnomAD
CA350308145 rs1352753415	1115	E>G		No	ClinGen TOPMed
rs1187461366 CA350308112	1117	F>S		No	ClinGen gnomAD
CA350308085 rs1301908487	1119	K>E		No	ClinGen TOPMed gnomAD
rs1235510239 CA350308048	1121	D>E		No	ClinGen TOPMed
CA2055607 rs534880562	1122	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63932287 rs534880562	1122	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1247854397 CA350307976	1126	K>N		No	ClinGen gnomAD
rs1224389915 CA350307972	1127	P>S		No	ClinGen gnomAD
rs760939186 CA2055606	1128	I>V		No	ClinGen ExAC gnomAD
CA2055605 rs566771716	1129	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2055604 rs192433351	1134	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536232917 CA63932257	1134	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA350307906 rs1190445314	1135	V>M		No	ClinGen TOPMed
CA350307883 rs1434158216	1138	E>G		No	ClinGen gnomAD
CA350307887 rs1276584178	1138	E>K		No	ClinGen gnomAD
rs1574315241 CA350307869	1139	E>V		No	ClinGen Ensembl
CA350307860 rs1349111019	1140	L>F		No	ClinGen TOPMed gnomAD
CA2055603 rs60833106	1140	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2055602 rs111248291 CA350307850	1141	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1057002744 CA63932217	1142	E>G		No	ClinGen TOPMed
CA63932216 rs938460993	1144	E>*		No	ClinGen TOPMed
rs1365740550 CA350307818	1145	V>L		No	ClinGen TOPMed
rs1368380381 CA350307770	1149	K>I		No	ClinGen gnomAD
CA350307720 rs1167547196	1153	S>T		No	ClinGen gnomAD
rs1414586405 CA350307696	1155	Q>K		No	ClinGen gnomAD
CA350307672 rs1426614584	1156	I>S		No	ClinGen gnomAD
rs550661048 CA63932206	1156	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA350307627 rs1193451448	1160	L>H		No	ClinGen gnomAD
rs1268636451 CA350307621	1161	V>I		No	ClinGen gnomAD
rs948355406 COSM3962180 CA63932183	1166	E>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs941374628 CA63932181	1170	I>T		No	ClinGen Ensembl
rs768654077 CA2055601	1170	I>V		No	ClinGen ExAC TOPMed gnomAD
rs919875925 CA350307506	1171	T>I		No	ClinGen TOPMed
rs919875925 CA63932180	1171	T>S		No	ClinGen TOPMed
rs1272811151 CA350307503	1172	K>E		No	ClinGen TOPMed gnomAD
rs748809106 CA2055600	1176	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2055599 rs779702432	1177	K>N		No	ClinGen ExAC gnomAD
CA63932175 rs982882754	1177	K>T		No	ClinGen gnomAD
CA63932164 rs939892255	1179	Y>C		No	ClinGen TOPMed gnomAD
rs1288896965 CA350307329	1190	E>K		No	ClinGen gnomAD
CA350307299 rs1411484524	1192	K>R		No	ClinGen gnomAD
rs76788064 CA2055597	1193	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769623479 CA2055598 CA63932162	1193	G>R		No	ClinGen ExAC TOPMed gnomAD
CA350307261 rs1453514632	1196	S>G		No	ClinGen TOPMed gnomAD
rs1178573835 CA350307245	1197	F>L		No	ClinGen TOPMed gnomAD
CA350307237 rs1574314866	1198	Q>P		No	ClinGen Ensembl
CA63932145 rs267599154	1199	G>E		No	ClinGen Ensembl
CA2055595 rs778038047	1199	G>R		No	ClinGen ExAC gnomAD
CA63932142 rs955502497	1200	K>T		No	ClinGen TOPMed gnomAD
rs1429687958 CA350307180	1204	T>A		No	ClinGen TOPMed
rs1028343171 CA63932138	1205	V>M		No	ClinGen TOPMed gnomAD
CA350307092 rs1459594319	1212	V>F		No	ClinGen TOPMed
rs1483667387 CA350307067	1214	N>S		No	ClinGen gnomAD
CA350307068 rs1483667387	1214	N>T		No	ClinGen gnomAD
rs1299983571 CA350307042	1216	N>K		No	ClinGen TOPMed
rs1432981024 CA350307045	1216	N>S		No	ClinGen TOPMed
rs1234216821 CA350307036	1217	H>Y		No	ClinGen TOPMed gnomAD
rs189390493 CA63932089	1218	H>D		No	ClinGen 1000Genomes
CA350306997 rs1317882769	1220	I>T		No	ClinGen gnomAD
rs1309688210 CA350306978	1222	K>T		No	ClinGen gnomAD
CA350306935 rs1208190151	1226	I>V		No	ClinGen gnomAD
CA2055592 rs138371070	1228	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2055591 rs755473450	1231	F>I		No	ClinGen ExAC gnomAD
rs776624612 CA63932066	1235	I>M		No	ClinGen Ensembl
CA350306779 rs1287425646	1240	F>I		No	ClinGen gnomAD
CA350306743 rs1396259100	1242	K>N		No	ClinGen gnomAD
rs1313749992 CA350306746	1242	K>R		No	ClinGen gnomAD
CA350306737 rs1380979795	1243	N>D		No	ClinGen gnomAD
rs1323312732 CA350306730	1243	N>S		No	ClinGen TOPMed
CA350306695 rs1574314562	1246	E>K		No	ClinGen Ensembl
rs1446709855 CA350306668	1247	S>N		No	ClinGen gnomAD
rs1410229558 CA350306571	1253	T>I		No	ClinGen gnomAD
rs565725263 CA63932056	1253	T>S		No	ClinGen TOPMed gnomAD
CA350306556 rs1158749144	1255	S>T		No	ClinGen gnomAD
CA2055589 rs766428860	1257	T>I		No	ClinGen ExAC TOPMed gnomAD
CA63932046 rs1013995558	1260	P>R		No	ClinGen Ensembl
rs1416292846 CA350306417	1263	S>F		No	ClinGen TOPMed gnomAD
CA350306429 rs1210043177	1263	S>P		No	ClinGen TOPMed
CA2055588 rs372728483	1267	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63932044 rs372728483	1267	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2055587 rs530515377	1269	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530515377 CA63932030	1269	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530515377 CA350306333	1269	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2055586 rs767588044	1273	S>C		No	ClinGen ExAC TOPMed gnomAD
CA350306283 COSM1591738 rs767588044	1273	S>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA63932016 rs1001388863	1274	F>I		No	ClinGen Ensembl
rs1260073644 CA350306243	1275	H>Q		No	ClinGen gnomAD
rs1245323020 CA350306221	1277	L>V		No	ClinGen gnomAD
rs546778176 CA63931997	1279	Q>E		No	ClinGen TOPMed gnomAD
CA2055585 rs768827630	1280	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1166186331 CA350306031	1286	F>S		No	ClinGen TOPMed
CA63931992 rs887095231	1288	R>K		No	ClinGen TOPMed gnomAD
rs184129762 CA2055584	1290	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1387177718 CA350305722	1294	M>I		No	ClinGen gnomAD
CA350305740 rs1437904964	1294	M>R		No	ClinGen gnomAD
CA350305716 rs1288782609	1295	K>T		No	ClinGen gnomAD
CA63931990 rs934048178	1297	P>S		No	ClinGen Ensembl
rs1345888994 CA350305636	1299	S>N		No	ClinGen TOPMed
rs1012629316 CA63931989	1300	K>*		No	ClinGen TOPMed gnomAD
rs1381305853 CA350305572	1301	S>F		No	ClinGen TOPMed
CA350305585 rs1300993210	1301	S>P		No	ClinGen TOPMed
CA2055582 rs145774602	1302	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63931968 rs1039807926	1303	Q>*		No	ClinGen Ensembl
CA350305481 rs1190677187	1305	Y>C		No	ClinGen TOPMed gnomAD
CA350305484 rs1190677187	1305	Y>S		No	ClinGen TOPMed gnomAD
CA350305414 rs1574314155	1308	A>V		No	ClinGen Ensembl
rs74369627 CA63931966	1310	S>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA350305290 rs1489357116	1316	H>P		No	ClinGen gnomAD
rs1189019961 CA350305264	1319	A>S		No	ClinGen TOPMed
CA350305267 rs1189019961	1319	A>T		No	ClinGen TOPMed
CA350305252 rs1263402312	1320	D>G		No	ClinGen gnomAD
rs1251548898 CA350305198	1325	L>F		No	ClinGen TOPMed
CA2055578 rs140682631	1326	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350305179 rs1409055891	1327	S>G		No	ClinGen TOPMed
rs780917966 CA2055577	1327	S>R		No	ClinGen ExAC TOPMed gnomAD
CA350305151 rs1225620869	1330	I>T		No	ClinGen TOPMed gnomAD
CA350305154 rs1276327505	1330	I>V		No	ClinGen TOPMed gnomAD
rs1325320124 CA350305133	1332	K>N		No	ClinGen gnomAD
rs1295538540 CA350305130	1333	L>F		No	ClinGen gnomAD
rs926150139 CA63931931	1333	L>P		No	ClinGen TOPMed
CA63931935 rs926150139	1333	L>R		No	ClinGen TOPMed
CA350305064 rs1370200788	1343	Q>*		No	ClinGen TOPMed gnomAD
rs1292083263 CA350305041	1346	G>W		No	ClinGen gnomAD
rs1411481569 CA350305026	1348	N>S		No	ClinGen TOPMed
rs192717767 CA2055574	1350	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1559477388 CA350305000	1352	N>H		No	ClinGen Ensembl
CA350304994 rs1216955008	1352	N>K		No	ClinGen TOPMed
CA350304990 rs1372532921	1353	L>*		No	ClinGen gnomAD
CA63931897 rs979035931	1353	L>F		No	ClinGen Ensembl
rs1199514728 CA350304962	1357	S>N		No	ClinGen gnomAD
CA350304954 rs1434776132	1358	S>Y		No	ClinGen TOPMed gnomAD
rs754316732 CA2055572	1359	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780503263 CA2055571	1360	P>L		No	ClinGen ExAC TOPMed gnomAD
CA350304911 rs1338208191	1364	I>M		No	ClinGen gnomAD
rs567560968 CA63931865	1364	I>V		No	ClinGen TOPMed gnomAD
rs1256015755 CA350304908	1365	K>E		No	ClinGen TOPMed gnomAD
CA350304872 rs1234614000	1368	L>S		No	ClinGen gnomAD
CA350304866 rs1235436659	1369	P>S		No	ClinGen gnomAD
rs746243992 CA63931859	1372	D>N		No	ClinGen TOPMed gnomAD
rs746243992 CA350304829	1372	D>Y		No	ClinGen TOPMed gnomAD
rs1477858275 CA350304778	1376	F>V		No	ClinGen TOPMed
rs959755935 CA63931850	1381	S>L		No	ClinGen Ensembl
rs992509948 CA63931852	1381	S>P		No	ClinGen Ensembl
CA350304690 rs1351448486	1384	Q>K		No	ClinGen gnomAD
rs1166395619 CA350304687	1384	Q>L		No	ClinGen Ensembl
CA350304663 rs1574313624	1386	K>I		No	ClinGen Ensembl
rs1395365064 CA350304655	1387	Y>H		No	ClinGen gnomAD
CA350304637 rs1310118118	1389	R>G		No	ClinGen gnomAD
rs1389839423 CA350304621	1390	I>T		No	ClinGen TOPMed gnomAD
rs1395876593 CA350304602	1392	Q>R		No	ClinGen gnomAD
rs756242904 CA2055570	1394	T>N		No	ClinGen ExAC TOPMed gnomAD
rs779298723 CA63931838	1395	T>A		No	ClinGen Ensembl
CA2055569 rs764232780	1396	L>S		No	ClinGen ExAC TOPMed gnomAD
CA63931824 rs555235107	1398	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA350304497 rs1253644570	1403	K>R		No	ClinGen gnomAD
rs1016533471 CA350304437	1409	L>V		No	ClinGen TOPMed gnomAD
COSM1591741 CA350304411 rs571028000	1411	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1004787425 CA350304408	1411	R>P		No	ClinGen TOPMed gnomAD
rs1004787425 CA63931787	1411	R>Q		No	ClinGen TOPMed gnomAD
rs1227099691 CA350304398	1412	E>G		No	ClinGen TOPMed
CA350304375 rs1481978804	1413	K>R		No	ClinGen TOPMed gnomAD
rs1340753811 CA350304324	1415	K>N		No	ClinGen TOPMed
rs557048083 CA63931783	1421	Q>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs1290537892 CA350304170	1423	L>V		No	ClinGen gnomAD
CA350304058 rs1237162084	1427	S>P		No	ClinGen gnomAD
rs1335469287 CA350304022	1429	L>S		No	ClinGen gnomAD
CA350303984 rs1335090722	1431	K>R		No	ClinGen gnomAD
rs1403959896 CA350303938	1433	Q>E		No	ClinGen gnomAD
rs1457648667 CA350303877	1436	Y>S		No	ClinGen gnomAD
CA350303836 rs1254915944	1438	T>S		No	ClinGen TOPMed
rs75689388 CA2055564	1439	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350303817 rs1156765894	1439	K>N		No	ClinGen gnomAD
COSM1153700 CA63931781 rs530754596	1441	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA350303775 rs1574313252	1442	A>T		No	ClinGen Ensembl
CA2055563 rs775599842	1444	T>I		No	ClinGen ExAC gnomAD
rs1440223067 CA350303712	1445	P>S		No	ClinGen gnomAD
rs765033918 CA2055562	1449	K>E		No	ClinGen ExAC TOPMed gnomAD
CA350303541 rs1203603556	1451	Q>*		No	ClinGen gnomAD
CA350303525 rs1465694222	1451	Q>H		No	ClinGen TOPMed gnomAD
CA350303519 rs1168211201	1452	P>S		No	ClinGen TOPMed
CA350303507 rs1270573488	1453	S>A		No	ClinGen gnomAD
CA350303447 rs1203817422	1455	N>S		No	ClinGen gnomAD
rs748465044 CA63931773	1460	A>E		No	ClinGen Ensembl
rs1350384384 CA350303073	1467	S>P		No	ClinGen gnomAD
CA350303041 rs1389781862	1469	I>R		No	ClinGen TOPMed
rs1380691442 CA350303018	1471	T>A		No	ClinGen TOPMed gnomAD
rs1047027244 CA63931767	1471	T>R		No	ClinGen TOPMed gnomAD
CA350302961 rs1314389942	1473	I>M		No	ClinGen gnomAD
CA350302964 rs1574313066	1473	I>T		No	ClinGen Ensembl
rs759098495 CA2055561	1479	R>W		No	ClinGen ExAC gnomAD
CA63931765 rs988523795	1480	K>R		No	ClinGen TOPMed
CA350302829 rs1316103359	1481	E>D		No	ClinGen TOPMed gnomAD
CA2055560 rs776001966	1485	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1469119083 CA350302667	1492	N>S		No	ClinGen TOPMed
CA350302643 rs1208120754	1493	S>C		No	ClinGen TOPMed
CA63931746 rs1035671316	1494	V>A		No	ClinGen TOPMed
rs1384081979 CA350302611	1495	H>R		No	ClinGen TOPMed gnomAD
CA350302618 rs1442336320	1495	H>Y		No	ClinGen gnomAD
CA350302583 rs1188719161	1497	T>I		No	ClinGen gnomAD
rs1191628555 CA350302571	1498	E>D		No	ClinGen gnomAD
rs1250496237 CA350302575	1498	E>G		No	ClinGen gnomAD
CA63931745 rs1003750457	1500	Q>E		No	ClinGen TOPMed gnomAD
rs1039755845 CA63931744	1501	D>V		No	ClinGen gnomAD
rs1574312825 CA350300341	1501	D>Y		No	ClinGen Ensembl
rs1357642104 CA350300185	1505	W>C		No	ClinGen TOPMed gnomAD
rs753045562 CA350300176	1506	G>C		No	ClinGen gnomAD
rs753045562 CA63931743	1506	G>S		No	ClinGen gnomAD
CA350300157 rs1367400451	1507	G>S		No	ClinGen gnomAD
rs1166917769 CA350299919	1514	S>A		No	ClinGen TOPMed
CA350299922 rs1166917769	1514	S>P		No	ClinGen TOPMed
rs1023771310 CA350299824	1517	W>*		No	ClinGen TOPMed gnomAD
rs1023771310 CA63931725	1517	W>C		No	ClinGen TOPMed gnomAD
CA63931726 rs766972512	1517	W>L		No	ClinGen TOPMed gnomAD
CA350299815 rs1168816504	1518	C>G		No	ClinGen gnomAD
CA2055557 rs199509985	1519	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1043647315 CA63931717	1522	L>Q		No	ClinGen Ensembl
rs1416722650 CA350299645	1525	K>N		No	ClinGen TOPMed gnomAD
rs183237351 CA2055555	1526	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774741487 CA2055556	1526	S>P		No	ClinGen ExAC gnomAD
CA350299570 rs1247796124	1528	D>N		No	ClinGen gnomAD
rs549650052 CA63931712	1529	R>G		No	ClinGen 1000Genomes
CA350299505 rs1201537106	1530	K>T		No	ClinGen gnomAD
CA2055554 rs201398091	1531	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1295514318 CA350299469	1531	E>K		No	ClinGen TOPMed
CA350299451 rs1268491857	1532	H>Y		No	ClinGen TOPMed gnomAD
CA350299294 rs1574312539	1537	K>*		No	ClinGen Ensembl
CA350299237 rs1559476690	1539	T>S		No	ClinGen Ensembl
CA350299203 rs1477413104	1541	Q>E		No	ClinGen TOPMed gnomAD
rs1270904276 CA350299135	1543	K>T		No	ClinGen gnomAD
rs149839128 CA2055551	1544	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756508894 CA2055552	1544	P>S		No	ClinGen ExAC gnomAD
CA350299113 rs756508894	1544	P>T		No	ClinGen ExAC gnomAD
rs887060013 CA63931685	1546	A>E		No	ClinGen TOPMed gnomAD
CA63931684 rs762809796	1549	T>I		No	ClinGen Ensembl
rs1402926784 CA350298951	1550	S>L		No	ClinGen gnomAD
CA350298946 rs1297561262	1551	Y>H		No	ClinGen gnomAD
CA350298823 rs1308293904	1554	I>M		No	ClinGen gnomAD
rs2349421 CA63931655	1554	I>N		No	ClinGen Ensembl
CA350298804 rs1411222706	1556	N>D		No	ClinGen TOPMed gnomAD
rs1352263253 CA350298759	1557	A>S		No	ClinGen TOPMed gnomAD
CA350298778 rs1352263253	1557	A>T		No	ClinGen TOPMed gnomAD
CA350298720 rs1414529275	1558	R>*		No	ClinGen gnomAD
rs1426543614 CA350298642	1561	R>K		No	ClinGen gnomAD
CA350298588 rs1179167051	1563	D>Y		No	ClinGen gnomAD
CA350298546 rs921098302	1564	E>D		No	ClinGen TOPMed gnomAD
CA350298456 rs1453818076	1568	R>*		No	ClinGen TOPMed
CA350298462 rs1453818076	1568	R>G		No	ClinGen TOPMed
CA350298450 rs1171544606	1568	R>I		No	ClinGen TOPMed
CA350298403 rs1479677731	1570	T>S		No	ClinGen TOPMed gnomAD
rs868616240 CA63931631	1574	W>*		No	ClinGen Ensembl
rs1394805412 CA350298112	1580	T>I		No	ClinGen TOPMed
CA350298028 rs1183175736	1587	G>R		No	ClinGen gnomAD
CA63931626 rs1039484331	1590	S>*		No	ClinGen TOPMed
rs1231395957 CA350297911	1594	D>Y		No	ClinGen TOPMed gnomAD
CA350297848 rs1409650710	1598	Q>R		No	ClinGen TOPMed
CA2055550 rs781115552	1600	L>F		No	ClinGen ExAC gnomAD
rs757544826 CA2055549	1601	K>Q		No	ClinGen ExAC gnomAD
rs1288674312 CA350297799	1603	N>K		No	ClinGen gnomAD
rs1322581959 CA350297801	1603	N>S		No	ClinGen gnomAD
CA350297783 rs1239849315	1605	N>K		No	ClinGen TOPMed
rs1229996343 CA350297779	1606	N>D		No	ClinGen gnomAD
CA350297777 rs1370799775	1606	N>S		No	ClinGen gnomAD
rs1342710382 CA350297761	1608	K>R		No	ClinGen TOPMed
rs1559476484 CA350297746	1610	H>P		No	ClinGen Ensembl
CA350297696 rs1212974869	1617	Y>C		No	ClinGen TOPMed
rs1559476470 CA350297699	1617	Y>H		No	ClinGen Ensembl
rs963485239 CA63931588 CA63931580	1618	K>N		No	ClinGen TOPMed gnomAD
CA350297680 rs1482594038	1619	K>N		No	ClinGen TOPMed
rs1179801633 CA350297673	1620	E>G		No	ClinGen TOPMed
rs1419314726 CA350297664	1621	I>M		No	ClinGen TOPMed
CA350297650 rs1468643479	1623	T>I		No	ClinGen gnomAD
rs1429036992 CA350297616	1628	P>Q		No	ClinGen gnomAD
rs956915416 CA63931546	1631	I>M		No	ClinGen TOPMed
CA350297568 rs1160464602	1635	K>Q		No	ClinGen gnomAD
CA350297557 rs772911481	1636	C>S		No	ClinGen gnomAD
rs772911481 COSM1153699 CA63931536	1636	C>Y	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2055546 rs751800432	1637	A>S		No	ClinGen ExAC gnomAD
CA63931521 rs928279362	1638	K>E		No	ClinGen TOPMed gnomAD
CA63931517 rs982365587	1641	E>D		No	ClinGen TOPMed
CA350297516 rs1376631882	1642	I>T		No	ClinGen TOPMed
CA350297520 rs1473186099	1642	I>V		No	ClinGen gnomAD
CA350297509 rs1244992466	1643	Q>R		No	ClinGen gnomAD
rs764370891 CA2055545	1644	S>T		No	ClinGen ExAC gnomAD
CA63931499 rs1005141925	1648	K>N		No	ClinGen TOPMed gnomAD
rs969595863 CA63931504	1648	K>T		No	ClinGen TOPMed
rs1398840347 CA350297470	1649	V>I		No	ClinGen TOPMed
CA2055544 rs758288004	1650	V>A		No	ClinGen ExAC gnomAD
CA350297442 rs1228486466	1653	E>K		No	ClinGen TOPMed gnomAD
CA350297399 rs1329439802	1658	P>R		No	ClinGen TOPMed
rs1475424554 CA350297395	1659	H>Y		No	ClinGen gnomAD
CA350297380 rs1236655212	1661	F>S		No	ClinGen TOPMed
CA350297373 rs1380723147	1662	P>S		No	ClinGen TOPMed gnomAD
rs1312190839 CA350297353	1665	F>L		No	ClinGen gnomAD
CA350297330 rs1341457166	1668	E>Q		No	ClinGen TOPMed
CA350297289 rs1202687722	1673	K>N		No	ClinGen TOPMed
CA2055542 rs765287827	1675	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1321786877 CA350297279	1675	R>L		No	ClinGen TOPMed gnomAD
rs1321786877 CA350297281	1675	R>Q		No	ClinGen TOPMed gnomAD
rs1559476243 CA350297255	1677	E>G		No	ClinGen Ensembl
CA63931457 rs761981464	1679	D>G		No	ClinGen TOPMed gnomAD
rs1343765053 CA350297239	1679	D>N		No	ClinGen TOPMed gnomAD
rs1387307183 CA350297222	1680	R>C		No	ClinGen gnomAD
rs1181886320 CA350297220	1680	R>H		No	ClinGen TOPMed gnomAD
CA2055540 rs759379979	1682	A>D		No	ClinGen ExAC TOPMed gnomAD
rs200411331 CA63931438	1682	A>T		No	ClinGen TOPMed gnomAD
CA350297157 rs1356679047	1686	K>*		No	ClinGen TOPMed
rs1188156197 CA350297154	1686	K>T		No	ClinGen gnomAD
rs1259866069 CA350297145	1687	S>*		No	ClinGen gnomAD
rs1259866069 CA350297143	1687	S>L		No	ClinGen gnomAD
CA350297138 rs1392606367	1688	F>C		No	ClinGen TOPMed
rs1293136893 CA350297140	1688	F>L		No	ClinGen TOPMed
rs765775599 CA2055538	1692	V>A		No	ClinGen ExAC gnomAD
rs1003916994 CA63931420	1692	V>F		No	ClinGen TOPMed
CA63931385 rs199823602	1693	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs959995 CA63931361	1695	L>V		No	ClinGen Ensembl
CA350297017 rs1365256450	1697	T>I		No	ClinGen gnomAD
rs1297390952 CA350296973	1700	P>L		No	ClinGen TOPMed
CA2055534 rs771657482	1701	T>S		No	ClinGen ExAC gnomAD
rs1288588152 CA350296939	1702	T>I		No	ClinGen gnomAD
rs749660892 CA2055533	1702	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1288588152 CA350296942	1702	T>R		No	ClinGen gnomAD
CA350296928 rs1458721265	1703	R>I		No	ClinGen gnomAD
CA350296909 rs1367742195	1705	H>N		No	ClinGen TOPMed gnomAD
rs775709933 CA2055532	1705	H>R		No	ClinGen ExAC gnomAD
CA350296906 rs1367742195	1705	H>Y		No	ClinGen TOPMed gnomAD
rs1424131510 CA350296885	1706	L>Q		No	ClinGen TOPMed gnomAD
rs1559476051 CA350296858	1708	K>*		No	ClinGen Ensembl
CA350296855 rs1172459228	1708	K>R		No	ClinGen TOPMed gnomAD
rs1490774228 CA350296820	1711	P>A		No	ClinGen gnomAD
CA2055530 rs373958006	1714	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA63931332 rs892019967	1714	L>P		No	ClinGen TOPMed gnomAD
rs892019967 CA350296771	1714	L>R		No	ClinGen TOPMed gnomAD
CA350296761 rs1559475979	1715	L>P		No	ClinGen Ensembl
rs1364433639 CA350296755	1716	H>D		No	ClinGen gnomAD
rs386654210 CA63931330	1716	H>P		No	ClinGen Ensembl
CA2055528 rs781369191	1717	W>*		No	ClinGen ExAC gnomAD
CA63931323 rs1029290753	1718	T>A		No	ClinGen TOPMed
CA350296698 rs1230269509	1719	A>T		No	ClinGen gnomAD
rs1405975386 CA350296634	1723	I>T		No	ClinGen TOPMed gnomAD
CA2055526 rs541262892	1724	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA350296628 rs1347727017	1724	H>Y		No	ClinGen gnomAD
CA2055515 rs760193852	1725	D>H		No	ClinGen ExAC gnomAD
rs749871326 CA2055514	1726	C>S		No	ClinGen ExAC gnomAD
rs767220654 CA2055513	1730	F>S		No	ClinGen ExAC TOPMed gnomAD
rs761439902 CA2055512 CA350296450	1731	E>D		No	ClinGen ExAC gnomAD
CA350296451 rs1389792401	1731	E>V		No	ClinGen TOPMed gnomAD
rs143118515 CA2055511	1736	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA350296400 rs1216859993	1738	S>T		No	ClinGen TOPMed
rs1255116374 CA350296368	1741	H>P		No	ClinGen TOPMed
CA2055510 rs770018530	1742	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777025756 CA2055509	1743	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777025756 CA2055508	1743	K>T		No	ClinGen ExAC TOPMed gnomAD
CA350296340 rs1239666062	1744	K>E		No	ClinGen TOPMed
rs771505597 CA2055507	1744	K>I		No	ClinGen ExAC gnomAD
CA2055506 rs747088318	1746	K>T		No	ClinGen ExAC TOPMed gnomAD
rs772473204 CA2055504	1750	R>S		No	ClinGen ExAC gnomAD
rs748287476 CA2055503	1753	G>E		No	ClinGen ExAC gnomAD
CA350296239 rs1204867309	1754	K>R		No	ClinGen gnomAD
rs779157338 CA2055501	1756	S>*		No	ClinGen ExAC gnomAD
CA63929523 rs1023441787	1756	S>A		No	ClinGen Ensembl
CA350296193 rs1378818776	1758	D>G		No	ClinGen TOPMed
rs200374448 CA2055500	1760	H>Y		No	ClinGen ExAC gnomAD
rs1351812971 CA350296150	1762	H>Y		No	ClinGen gnomAD
rs756043700 CA2055497	1765	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs766989589 CA2055495	1768	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1336275200 CA350296084	1768	R>S		No	ClinGen TOPMed
CA2055494 rs145403884	1770	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs72939119 CA2055493	1773	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1401104409 CA350296028	1774	E>G		No	ClinGen gnomAD
CA2055492 rs761202160	1775	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1378819850 CA350295325	1778	Q>*		No	ClinGen TOPMed
COSM1014913 COSM1591745 rs140775049 CA2055491	1779	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs74717115 CA2055490	1779	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs567676487 COSM175966 CA2055489	1780	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA63929448 rs897810995	1781	S>N		No	ClinGen Ensembl
rs1342455610 CA350295213	1781	S>R		No	ClinGen TOPMed
CA2055488 rs761243738	1783	S>N		No	ClinGen ExAC gnomAD
CA2055486 rs1553629838	1786	F>I		No	ClinGen Ensembl
CA2055485 rs117420067	1789	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2055484 rs772309336	1789	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1014912 rs748210926 COSM1404494 CA2055483	1790	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs779021017 CA2055482 COSM2907292 COSM2907291	1790	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs537516003 CA2055481	1795	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA63929397 rs1050576781	1795	G>R		No	ClinGen Ensembl
CA350294835 rs749107924	1799	I>K		No	ClinGen ExAC gnomAD
CA2055480 rs749107924	1799	I>R		No	ClinGen ExAC gnomAD
rs779808037 CA350294794	1801	D>N		No	ClinGen ExAC gnomAD
rs779808037 CA2055479	1801	D>Y		No	ClinGen ExAC gnomAD
rs138926058 CA2055478	1804	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138926058 CA350294688	1804	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63929391 rs867766436	1805	D>N		No	ClinGen Ensembl
CA350294639 rs867766436	1805	D>Y		No	ClinGen Ensembl
CA63929388 rs865895139	1807	E>K		No	ClinGen Ensembl
CA2055472 rs34138250	1812	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2055473 rs138138805	1812	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350294413 rs1475989671	1813	P>S		No	ClinGen gnomAD
rs935594417 CA63929365	1817	K>E		No	ClinGen TOPMed
CA63929357 rs1033423292	1817	K>N		No	ClinGen TOPMed
CA2055469 rs763657111	1817	K>T		No	ClinGen ExAC gnomAD
CA63929349 rs149841146 COSM107311	1818	R>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2055468 rs758063888	1819	G>E		No	ClinGen ExAC TOPMed gnomAD
rs887441270 CA63929341	1819	G>R		No	ClinGen TOPMed
CA350294261 rs758063888	1819	G>V		No	ClinGen ExAC TOPMed gnomAD
CA350294258 rs1559473273	1820	Y>H		No	ClinGen Ensembl

No associated diseases with Q53TS8

6 regional properties for Q53TS8

Type	Name	Position	InterPro Accession
conserved_site	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site	229 - 238	IPR002464
domain	Helicase-like, DEXD box c2 type	8 - 280	IPR006554
domain	ATP-dependent helicase, C-terminal	524 - 699	IPR006555
domain	RAD3-like helicase, DEAD	72 - 256	IPR010614
domain	Helical and beta-bridge domain	272 - 413	IPR010643
domain	Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type	7 - 283	IPR014013

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium, flagellum membrane	Specifically located in the principal piece of sperm tail
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 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.
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

4 GO annotations of biological process

Name	Definition
flagellated sperm motility	The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
sperm capacitation	A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium.
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.
vesicle-mediated transport to the plasma membrane	The directed movement of substances to the plasma membrane in transport vesicles that fuse with the plasma membrane by exocytosis.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MEPPQETNRP	FSTLDNRSGQ	VQVLSATPLL	QRNPYSSPDI	MHIKGSEASS	VPYALNQGTT
70	80	90	100	110	120
ALPKNKNQEG	TGHRLLNMLR	KTLKESDSEE	LEITQETPNL	VPFGDVVGCL	GIHIKNCRHF
130	140	150	160	170	180
MPKISLQHYA	NLFIRISINK	AVKCTKMCSL	LSKNDEKNTV	IKFDEVKYFS	VQVPRRYDDK
190	200	210	220	230	240
RNNILLELIQ	YDNREKRAFL	LGSVQIHLYE	VIQKGCFIEE	VQVLHGNIFV	CRLEVEFMFS
250	260	270	280	290	300
YGNFGYGFSH	QLKPLQKITE	PSMFMNLAPP	PERTDPVTKV	ITPQTVEYPA	FLSPDLNVTV
310	320	330	340	350	360
GTPAVQSSNQ	PSVVRLEKLQ	QQPRERLEKM	KKEYRNLNTW	IDKANYLESI	LMPKLEHKDS
370	380	390	400	410	420
EETNIDEASE	NTKSNHPEEE	LENIVGVDIP	LVNEEAETTA	NELLDNDSEK	GLTIPTLNQS
430	440	450	460	470	480
DQDNSTADAS	KNDESTPSPT	EVHSLCTISN	QETIKAGRIP	PLGERQSESM	PDRKMKNVFF
490	500	510	520	530	540
PLEVKLKDNY	PSILKADSSL	SEVAFSPKEY	NSPSFRPEYI	EFKPKFQFQK	FNKNGFDPFL
550	560	570	580	590	600
RNINKMSVRK	RKDQDIYKYR	NILGAEVIEH	EDQDPPYPAQ	SKTAGPANTT	WAHDPNIFTT
610	620	630	640	650	660
KMLETENKLA	PDPTINTIKG	LDTKNSLKEN	LPNVSLPSIK	GESSRAGNVQ	ANTCHLSKSL
670	680	690	700	710	720
NFTPHIEYLK	QSMILKSILS	ENLQDLSDKL	FSKPEVSMNS	EAREKSSSPL	LSIHDKSSSS
730	740	750	760	770	780
MEDNVLEKKQ	DLNNWLSEKD	ILNSKTTLSQ	IIKNIPADSF	SEGSQIIENI	PADSLLEGGQ
790	800	810	820	830	840
VIKNIPEYSL	SEGGQIIKNI	PADSFLESGP	GQSPEVEEHV	SKKHFEADER	DFPIKKNSST
850	860	870	880	890	900
KKKHLISEVP	NSKSGSSGTV	HDYIMRQIFT	APIFSELEIE	VKEPSETPMN	LENQLPTPWK
910	920	930	940	950	960
RSLSSHILFH	EENADEIELP	QPRSATSQII	QAFPIDTLLE	SGIIKVIELD	KEHHKSSLLG
970	980	990	1000	1010	1020
TGITSPKGNL	KDSQEYYSEI	RSETEPLSEQ	SIPIIPKDTT	SVSRAEFIQE	DQNMFPQDSS
1030	1040	1050	1060	1070	1080
YYSIANKELY	LPRNGQRLCK	DKNDLSSTLE	SLTNSLMDKL	SESDEIMLKS	FLKNIFNVFF
1090	1100	1110	1120	1130	1140
KYNHSERRGQ	PEKELERLIQ	PSFTSDTEHL	EELQEDFDKA	DKLDRKPILS	PKLRVFLEEL
1150	1160	1170	1180	1190	1200
SESEVKHLKS	ELSKQIQHYL	VERLSESGHI	TKEDLPKIYQ	NLYLMNEKAE	QKGPNSFQGK
1210	1220	1230	1240	1250	1260
YSETVKEIMS	FVNNFNHHFI	DKHLEIKLRS	FLKEILQNYF	LKNISESSLF	NETASETIYP
1270	1280	1290	1300	1310	1320
NISSLRTKSV	SISFHELEQD	ISKGSFGRRF	EINMKYPLSK	SLQNYLIALS	ENELLHLKAD
1330	1340	1350	1360	1370	1380
LSKHLQSLFI	EKLSKSGLMT	KKQLEGINQH	INLLNSSSIP	LKYIKTHLPF	RDDCHFVEKH
1390	1400	1410	1420	1430	1440
SEKQNKYSRI	VQQTTLQTVS	EDKLREAELI	REKEKKYFPL	QNLKGNSSLI	KEQKSYYTKE
1450	1460	1470	1480	1490	1500
EAKTPSLIKV	QPSSNENIQA	SPLSKSSEIL	TDILLKKLRK	EHVFTQLPQA	ENSVHKTEIQ
1510	1520	1530	1540	1550	1560
DPYSWGGKSK	ITQSKAWCEK	TLKMKSLDRK	EHVNIYKWTV	QEKPEAVLTS	YPRIPNARMP
1570	1580	1590	1600	1610	1620
REDEYLNRIT	FPSWQSSTLT	HFNTETGEKS	KLEDQYCQTL	KGNNNNNKKH	LVTFAQYKKE
1630	1640	1650	1660	1670	1680
IQTLYIKPDE	ICSEKCAKFP	EIQSFQYKVV	EDEKNLKPHL	FPELFKIEDL	KPKVRKERDR
1690	1700	1710	1720	1730	1740
VAQPKKSFNK	IVRILPTTLP	TTRIHLKKSV	PRTLLHWTAR	RTIHDCSDKF	EDLHDMTSFT
1750	1760	1770	1780	1790	1800
HLKKVKSRSR	LLGKSSDDIH	NHARHSARPY	TAPEVNKQRE	SYSGKFTSRR	MVSSGLVHIN
1810
DKTSDYEMHK	MRPKKIKRGY