AiPD: Autoinhibited Protein Database

O95248

Gene name	SBF1 (MTMR5)
Protein name	Myotubularin-related protein 5
Names	Inactive phosphatidylinositol 3-phosphatase 5, SET-binding factor 1, Sbf1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6305
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1713-1786 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1713-1786 (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 O95248

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95248-F1	Predicted				AlphaFoldDB

2069 variants for O95248

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001287818 CA10318273 rs765666942 RCV001587318 CA325540534	19	G>R	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
rs1556436855 RCV001332200 CA412224430	54	W>*	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10318133 RCV000973634 rs148021361 RCV001289629	100	E>A	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000881952 CA10317936 rs201776298 RCV003117633	291	A>T	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001860502 CA10317850 RCV001001087 rs746439204	358	T>A	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000754681 CA412218694 rs1569513495	395	E>*	Autism spectrum disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001252745 VAR_070046 RCV002514182 rs587776986 RCV000043693 CA143927	418	M>V	Charcot-Marie-Tooth disease type 4B3 Microcephaly CMT4B3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs690016543 CA174971 RCV000149508 RCV000162103	444	D>N	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000626062 CA412217813 rs1556430522	484	A>G	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000881695 RCV001284879 rs149528827 CA10317613	525	M>L	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001859289 CA10317558 rs374194474 RCV001332201	567	V>L	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10317457 rs199783239 RCV001576154 RCV000791208	641	E>Q	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001873194 rs1569512576 RCV000781831	720	D>missing	Charcot-Marie-Tooth disease type 4 [ClinVar]	Yes	ClinVar dbSNP
rs374201600 CA10317300 RCV000756615 RCV002221252	733	R>H	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001000701 CA10317293 rs188976869 RCV000904394	753	T>M	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000881459 RCV001002008 CA10317252 rs199705951	799	N>S	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10317192 rs201061231 RCV000997951 RCV002549988	823	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200365973 RCV000765656 RCV002521477 CA10317144 RCV000415859	870	V>M	Charcot-Marie-Tooth disease type 4B3 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10317096 rs201519518 RCV001531376 RCV001287562	889	R>H	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001001997 CA10317057 rs370463792 RCV000904393 COSM1417121	930	V>I	large_intestine Charcot-Marie-Tooth disease type 4B3 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412207741 rs1180199698 RCV001332202	981	G>R	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000507445 CA10316839 rs202156491 RCV000885103	1054	R>W	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001449656 RCV001815554 rs201200122 CA10316830 RCV001872001	1065	G>E	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002538387 CA10316805 rs749516637 RCV001289905	1085	P>L	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001252837 rs370664525 CA10316660	1184	V>M	Variant assessed as Somatic; 0.0 impact. Microcephaly [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000416111 CA10316573 RCV002481288 RCV002521468 rs370712299	1259	A>T	Charcot-Marie-Tooth disease type 4B3 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs147879775 RCV001803969 CA10316552 RCV000757731	1274	G>D	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000900485 CA10316472 rs201399007 RCV003128421 RCV001804069	1283	R>W	Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200718883 CA10316467 RCV000905841 RCV001002009	1289	S>G	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412195941 RCV002531926 rs1404020990 RCV000625784	1435	L>V	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10316238 RCV001871692 RCV001287106 rs374199797	1481	T>I	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001171731 CA10316193 rs200471909 RCV002557476	1513	G>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs370182117 RCV001766820 CA10316183 RCV001002004	1522	R>W	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_070047 RCV000762082 RCV002281731 rs200488568 RCV000043694 CA143929	1565	T>A	Charcot-Marie-Tooth disease type 4B3 CMT4B3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10316098 RCV001508028 COSM1154039 rs370715026 RCV001336514 RCV002546781	1587	V>M	Variant assessed as Somatic; 0.0 impact. endometrium Charcot-Marie-Tooth disease type 4B3 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA10316083 RCV001882788 rs377302977 RCV001723259	1603	E>K	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001804136 rs202049257 RCV000963232 CA10316077 RCV002221258	1618	P>T	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10316066 rs147869659 RCV002533129 RCV002225116 RCV000757732 RCV001332204	1630	Q>H	Charcot-Marie-Tooth disease type 4B3 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002536570 RCV000757733 CA10316062 rs748396110	1634	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV003166025 rs202149945 RCV000762081 CA10315820 RCV001000629	1799	R>H	Charcot-Marie-Tooth disease type 4B3 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001001088 CA10315808 RCV001508025 rs373534319	1811	A>G	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003160146 CA10315809 rs373534319 RCV000997947	1811	A>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001289673 rs192771726 RCV000961766 CA10315799	1822	T>A	Charcot-Marie-Tooth disease type 4B3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766898017 CA10318276	5	A>P		No	ClinGen ExAC gnomAD
rs1379921764 CA640049866	7	Y>*		No	ClinGen gnomAD
rs1229722573 CA412225346	7	Y>N		No	ClinGen gnomAD
rs1452044278 CA412225284	12	A>E		No	ClinGen TOPMed gnomAD
rs1452044278 CA412225283	12	A>G		No	ClinGen TOPMed gnomAD
rs1452044278 CA412225286	12	A>V		No	ClinGen TOPMed gnomAD
rs1233981025 CA412225268	13	F>L		No	ClinGen TOPMed
rs1165737196 CA412225265	14	G>R		No	ClinGen gnomAD
rs1346992565 CA412225250	15	P>L		No	ClinGen TOPMed
CA10318274 rs773921429	15	P>S		No	ClinGen ExAC gnomAD
CA412225245 rs1465253755	16	H>Y		No	ClinGen gnomAD
CA412225231 rs1263806867	17	P>S		No	ClinGen TOPMed gnomAD
rs1263806867 CA412225233	17	P>T		No	ClinGen TOPMed gnomAD
rs1485408666 CA412225226	18	R>G		No	ClinGen gnomAD
rs1003479968 CA325540536	18	R>P		No	ClinGen TOPMed gnomAD
rs187706496 CA10318244	20	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412224725 rs187706496	20	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1326876119 CA412224656	23	G>R		No	ClinGen gnomAD
rs904638475 CA325538162	24	Q>R		No	ClinGen TOPMed gnomAD
CA412224632 rs376814960	26	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs376814960 CA325538154	26	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10318241 rs376814960	26	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10318240 rs780365074	28	L>R		No	ClinGen ExAC gnomAD
rs1556437357 CA412224613	29	Q>*		No	ClinGen Ensembl
rs1428262826 CA412224611	29	Q>R		No	ClinGen gnomAD
rs758712336 CA10318239	30	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750756200 CA10318238	30	R>H		No	ClinGen ExAC TOPMed gnomAD
CA325538137 rs1050697175	32	P>L		No	ClinGen gnomAD
rs1556437310 CA412224588	33	E>*		No	ClinGen Ensembl
CA412224582 rs1556437293	34	K>*		No	ClinGen Ensembl
CA412224575 rs1206115902	34	K>N		No	ClinGen gnomAD
rs1244507506 CA412224578	34	K>R		No	ClinGen gnomAD
CA325538125 rs997811845	35	D>E		No	ClinGen Ensembl
rs1556437267 CA412224561	36	W>*		No	ClinGen Ensembl
rs1556437278 CA412224564	36	W>*		No	ClinGen Ensembl
rs1556437260 CA412224556	37	E>*		No	ClinGen Ensembl
CA10318234 rs764669847	39	N>S		No	ClinGen ExAC TOPMed gnomAD
CA10318233 rs760124262	40	P>A		No	ClinGen ExAC gnomAD
rs752230843 CA412224515	43	Q>*		No	ClinGen ExAC gnomAD
rs1481570325 CA412224511	43	Q>H		No	ClinGen TOPMed
CA10318232 rs752230843	43	Q>K		No	ClinGen ExAC gnomAD
rs759227174 CA10318230	45	I>V		No	ClinGen ExAC gnomAD
CA412224495 rs1556437163	46	E>*		No	ClinGen Ensembl
rs1453538556 CA412224485	47	L>R		No	ClinGen Ensembl
CA10318207 rs773077750	48	F>L		No	ClinGen ExAC gnomAD
CA412224472 rs1273883189	48	F>L		No	ClinGen gnomAD
CA10318206 rs769814392	50	Q>*		No	ClinGen ExAC gnomAD
rs897932264 CA325537712	50	Q>P		No	ClinGen TOPMed gnomAD
CA412224451 rs1253579054	51	P>A		No	ClinGen gnomAD
rs1603434443 CA412224445	52	S>G		No	ClinGen Ensembl
CA412224437 rs772333742 CA10318203	53	G>R	Variant assessed as Somatic; 4.647e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412224427 rs745966230	54	W>*		No	ClinGen ExAC
CA10318202 rs745966230	54	W>C		No	ClinGen ExAC
CA412224425 rs1556436852	55	Q>*		No	ClinGen Ensembl
rs1423682507 CA412224406	57	C>*		No	ClinGen gnomAD
CA412224399 rs1354551289	58	P>L		No	ClinGen gnomAD
rs1170645964 CA412224392	59	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412224394 rs1418032137	59	E>G		No	ClinGen gnomAD
CA412224397 rs1412088586	59	E>K		No	ClinGen TOPMed gnomAD
CA325537696 rs539252694	62	P>A		No	ClinGen Ensembl
CA10318199 rs749576149	63	P>L		No	ClinGen ExAC gnomAD
rs577871792 CA325537675	65	F>L		No	ClinGen 1000Genomes
CA412224331 rs9616851	65	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748714361 CA10318196	66	F>L		No	ClinGen ExAC gnomAD
CA412224315 rs1233471028 COSM1154044	66	F>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA412224277 rs1272160813	69	V>A		No	ClinGen gnomAD
CA10318195 rs780679139	70	L>F		No	ClinGen ExAC gnomAD
CA412224256 rs1171644927	71	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs556200860 CA10318193	72	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10318192 rs756771124	73	I>V		No	ClinGen ExAC gnomAD
CA412224215 rs1299347436	74	N>S		No	ClinGen gnomAD
rs1299347436 CA412224213	74	N>T		No	ClinGen gnomAD
CA412224195 rs761828233	76	E>*		No	ClinGen ExAC TOPMed gnomAD
CA10318188 rs761828233	76	E>K		No	ClinGen ExAC TOPMed gnomAD
CA412224187 rs1170579090	77	R>C		No	ClinGen gnomAD
rs776645874 CA10318187	77	R>H		No	ClinGen ExAC TOPMed gnomAD
rs201451574 CA325537647	78	H>L		No	ClinGen Ensembl
rs1329727209 CA412224182	78	H>Y		No	ClinGen TOPMed
rs764108351 CA10318186	79	Y>C		No	ClinGen ExAC gnomAD
rs375698739 CA10318184	80	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409022870 COSM1484344 CA412224163	81	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA412224151 rs1556436799	82	C>*		No	ClinGen Ensembl
CA412224147 rs1179208323	83	L>*		No	ClinGen TOPMed gnomAD
CA10318182 rs749577639	83	L>F		No	ClinGen ExAC gnomAD
CA412224145 rs1179208323	83	L>W		No	ClinGen TOPMed gnomAD
rs944225653 CA412224108	86	W>*		No	ClinGen TOPMed
rs1556436786 CA412224104	86	W>*		No	ClinGen Ensembl
rs944225653 CA325537633	86	W>S		No	ClinGen TOPMed
CA412224096 rs1556436783	87	E>*		No	ClinGen Ensembl
CA10318181 rs773556750	88	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751170801 CA325537630	88	P>T		No	ClinGen Ensembl
CA10318180 rs372241531	89	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328538948 CA412224050	90	E>*		No	ClinGen gnomAD
CA412224046 rs1317339826	90	E>V		No	ClinGen TOPMed gnomAD
CA10318177 rs755527050	91	P>L		No	ClinGen ExAC gnomAD
rs1569514152 CA412224026	91	P>S		No	ClinGen Ensembl
rs1556436706 RCV000627326 CA412223996	93	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs1556436485 CA412223831	95	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765399551 CA412223808	96	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs765399551 CA10318140	96	T>R		No	ClinGen ExAC TOPMed
CA412223801 rs1486703093	97	T>A		No	ClinGen TOPMed gnomAD
rs1449459235 CA412223795	97	T>M		No	ClinGen Ensembl
COSM1143053 rs1449459235 CA412223791	97	T>R	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA412223798 rs1486703093	97	T>S		No	ClinGen TOPMed gnomAD
CA10318138 rs776837522	98	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10318137 rs769121197	98	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772730606 CA10318134	99	V>A		No	ClinGen ExAC
CA325537520 rs775997323 CA412223767	99	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775997323 CA10318135 COSM1484342	99	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA412223720 rs1344047884	101	D>G		No	ClinGen TOPMed
rs770686004 CA10318131	102	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10318132 rs770686004	102	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1321749331 CA412223689	103	T>R		No	ClinGen gnomAD
CA412223678 rs1269401719	104	E>K		No	ClinGen gnomAD
rs1269401719 CA412223676	104	E>Q		No	ClinGen gnomAD
rs1556436301 CA412223621	106	E>*		No	ClinGen Ensembl
rs1603434338 CA412223614	106	E>G		No	ClinGen Ensembl
CA412223596 rs1556436283	107	E>*		No	ClinGen Ensembl
CA325537510 rs1050868430	107	E>D		No	ClinGen Ensembl
CA412223593 rs1603434335	107	E>G		No	ClinGen Ensembl
CA412223576 rs1556436266	108	E>*		No	ClinGen Ensembl
CA10318128 rs373529941	108	E>D		No	ClinGen ESP ExAC gnomAD
CA412223547 rs1183195579	109	G>E		No	ClinGen TOPMed
rs1195907468 CA412223557	109	G>R		No	ClinGen gnomAD
rs1603434331 CA412223529	110	D>G		No	ClinGen Ensembl
CA10318126 rs781132424	110	D>H		No	ClinGen ExAC TOPMed gnomAD
CA412223513 rs1556436229	111	E>*		No	ClinGen Ensembl
CA412223508 rs1217399041	111	E>G		No	ClinGen gnomAD
CA412223496 rs1317679776	112	G>*		No	ClinGen gnomAD
rs1284331623 CA412223464	114	Q>R		No	ClinGen gnomAD
rs754937528 CA10318125	115	T>I		No	ClinGen ExAC gnomAD
rs371457784 CA10318124	117	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA412223418 rs1569514103	118	S>F		No	ClinGen Ensembl
rs376316390 CA325537497	119	P>S		No	ClinGen ESP TOPMed gnomAD
CA10318122 rs762008761	120	T>I		No	ClinGen ExAC gnomAD
rs1296365421 CA412223388	121	A>V		No	ClinGen gnomAD
rs754155791 CA10318121	123	A>P		No	ClinGen ExAC gnomAD
CA412223372 rs754155791	123	A>T		No	ClinGen ExAC gnomAD
rs764224576 CA10318120	124	P>A		No	ClinGen ExAC TOPMed gnomAD
rs761040607 CA10318119	124	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764224576 CA412223363	124	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372644492 CA325537491	125	S>F		No	ClinGen ESP
CA325537488 rs868063871	126	A>V		No	ClinGen TOPMed gnomAD
CA412223329 rs1182146385	127	Q>*		No	ClinGen gnomAD
CA412223322 rs1439029609	127	Q>H		No	ClinGen gnomAD
rs768106795 CA10318117	130	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760170381 CA10318116	131	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1556436045 CA412223272	132	K>*		No	ClinGen Ensembl
CA412223256 rs1343361231	133	T>M		No	ClinGen gnomAD
rs1367255464 CA412223239	135	V>I		No	ClinGen TOPMed
CA10318113 rs532063851	136	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1603434314 CA412223211	137	V>G		No	ClinGen Ensembl
CA412223204 rs1307179149	138	S>*		No	ClinGen gnomAD
CA412223202 rs1307179149	138	S>L		No	ClinGen gnomAD
rs368625733 CA412223197	139	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA10318109 rs765643685	139	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA325537464 rs926281636	142	H>L		No	ClinGen Ensembl
rs1158783808 CA412223153	143	T>A		No	ClinGen gnomAD
rs376741098 CA10318106	143	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10318104 rs753875386	144	E>Q		No	ClinGen ExAC gnomAD
CA412223123 rs1603434310	145	V>G		No	ClinGen Ensembl
CA325537419 rs888904572	148	N>D		No	ClinGen TOPMed
CA10318074 rs573919510	148	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1569514054 CA412223067	149	S>I		No	ClinGen Ensembl
rs768308575 CA10318071	151	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775305921 CA10318069	152	L>F		No	ClinGen ExAC gnomAD
rs1193133636 CA412223043	153	I>M		No	ClinGen TOPMed gnomAD
rs745851428 CA10318067	153	I>V		No	ClinGen ExAC gnomAD
CA10318066 rs777905527	154	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs769700278 CA10318065	156	I>V		No	ClinGen ExAC gnomAD
RCV000902124 rs146989767 CA10318064	157	H>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755286062 CA10318062	158	V>M		No	ClinGen ExAC TOPMed gnomAD
CA412223011 rs1556435639	159	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA412223007 rs1315828788	159	E>G		No	ClinGen TOPMed gnomAD
rs780328930 CA10318060	160	G>D		No	ClinGen ExAC gnomAD
CA412222985 rs1435101779	163	V>M		No	ClinGen TOPMed gnomAD
rs765777206 CA412222973	164	C>*		No	ClinGen ExAC gnomAD
rs1354671180 CA412222978	164	C>R		No	ClinGen gnomAD
rs893277247 CA325537398	164	C>S		No	ClinGen TOPMed gnomAD
CA412222967 rs1556435559	166	E>*		No	ClinGen Ensembl
CA412222958 rs1421866906	167	N>D		No	ClinGen gnomAD
CA10318055 rs117163826	168	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA10318054 rs763695196	169	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1189742426 CA412222562	171	N>Y		No	ClinGen TOPMed gnomAD
rs543590911 CA325535817	172	L>V		No	ClinGen gnomAD
CA325535811 rs1046180703	174	T>M		No	ClinGen TOPMed gnomAD
rs1257136315 CA412222487	175	C>*		No	ClinGen gnomAD
rs553867603 CA10318052	175	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA10318050 rs759383363	176	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10318051 rs759383363	176	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1162539768 CA412222447	177	V>M		No	ClinGen TOPMed
rs1325470004 CA412222428	178	P>L		No	ClinGen gnomAD
CA412222437 rs1364749573	178	P>T		No	ClinGen TOPMed
rs1309542797 CA412222394	181	G>A		No	ClinGen TOPMed
rs770926599 CA10318048	182	G>A		No	ClinGen ExAC TOPMed gnomAD
rs781458572 CA412222371	183	S>*		No	ClinGen ExAC TOPMed gnomAD
CA10318047 rs748202042	183	S>A		No	ClinGen ExAC gnomAD
CA10318046 rs781458572	183	S>L		No	ClinGen ExAC TOPMed gnomAD
CA412222365 rs1556435438	184	Q>*		No	ClinGen Ensembl
CA412222260 rs1426360503	185	R>S		No	ClinGen TOPMed
rs1394282014 CA412222256	186	T>A		No	ClinGen gnomAD
CA10318030 rs551437073	186	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1246089103 CA412222234	187	I>M		No	ClinGen gnomAD
rs931804927 CA325535483	188	S>F		No	ClinGen TOPMed gnomAD
CA412222217 rs1556434475	189	L>*		No	ClinGen Ensembl
rs1310976876 CA412222224	189	L>M		No	ClinGen gnomAD
rs915161351 CA325535475	190	G>E		No	ClinGen TOPMed gnomAD
rs1440815291 CA412222198	191	A>S		No	ClinGen TOPMed
CA412222185 rs1300275622	192	G>D		No	ClinGen gnomAD
rs768921617 COSM1593137 CA10318026	194	R>Q	Variant assessed as Somatic; 0.0001313 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10318027 rs776834823	194	R>W		No	ClinGen ExAC gnomAD
rs1164319997 CA412222152	195	Q>*		No	ClinGen gnomAD
CA412222154 rs1164319997	195	Q>E		No	ClinGen gnomAD
rs1459347506 CA412222147	195	Q>L		No	ClinGen gnomAD
CA412222137 rs1603434056	196	V>G		No	ClinGen Ensembl
CA412222142 rs1366618571	196	V>I		No	ClinGen gnomAD
rs1556434395 CA412222113	198	Q>*		No	ClinGen Ensembl
rs1248746641 CA412222095	199	T>A		No	ClinGen Ensembl
CA10318025 rs747087924	200	P>S		No	ClinGen ExAC TOPMed
rs1343240444 CA412222058	202	A>G		No	ClinGen TOPMed
CA10318021 rs779374193	203	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10318020 rs757749490	203	D>V		No	ClinGen ExAC gnomAD
rs970529797 CA412222038	204	S>*		No	ClinGen TOPMed gnomAD
CA412222035 rs970529797	204	S>L		No	ClinGen TOPMed gnomAD
CA325535452 rs970529797	204	S>W		No	ClinGen TOPMed gnomAD
rs1005011466 CA325535449	205	L>V		No	ClinGen TOPMed gnomAD
rs1603434032 CA412222006	207	V>A		No	ClinGen Ensembl
rs755564684 CA10318017	207	V>I		No	ClinGen ExAC TOPMed gnomAD
CA412221993 rs1318959073	208	S>I		No	ClinGen gnomAD
rs777596406 CA10318015	209	R>C		No	ClinGen ExAC TOPMed gnomAD
CA412221985 rs1216976197	209	R>H		No	ClinGen TOPMed gnomAD
CA412221981 rs1216976197	209	R>L		No	ClinGen TOPMed gnomAD
rs1216976197 CA412221983	209	R>P		No	ClinGen TOPMed gnomAD
CA10318016 rs777596406	209	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1340161326 CA412221970	210	C>Y		No	ClinGen gnomAD
CA325535434 CA412221951 rs181765196	211	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412221935 rs1603434028	213	A>G		No	ClinGen Ensembl
rs1603434025 CA412221918	216	F>S		No	ClinGen Ensembl
CA412221912 rs1388742331	217	R>C		No	ClinGen TOPMed gnomAD
CA325535421 rs867746008	217	R>H		No	ClinGen Ensembl
CA10318000 rs374713768	222	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs374713768 CA412221868	222	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412221862 rs1270593069	223	N>S		No	ClinGen TOPMed
CA10317998 rs371753373	224	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412221830 rs1556434011	227	L>*		No	ClinGen Ensembl
rs1556433998 CA412221797	229	C>*		No	ClinGen Ensembl
CA412221804 rs1217696020	229	C>Y		No	ClinGen gnomAD
CA412221793 rs1355941274	230	A>P		No	ClinGen gnomAD
rs1008742761 CA325535338	231	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs754569429 CA412221776	232	L>F		No	ClinGen ExAC gnomAD
rs754569429 CA10317996	232	L>V		No	ClinGen ExAC gnomAD
CA10317995 rs751288163	233	T>M		No	ClinGen ExAC TOPMed gnomAD
CA412221756 rs1556433940	234	E>*		No	ClinGen Ensembl
CA412221729 rs1556433929	236	K>*		No	ClinGen Ensembl
rs1305259022 CA412221709	238	L>V		No	ClinGen TOPMed
rs779853747 CA10317994	239	F>Y		No	ClinGen ExAC gnomAD
CA412221677 rs1297063785	241	S>P		No	ClinGen gnomAD
rs368027327 CA10317992	242	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs761849972 CA10317990	242	R>Q		No	ClinGen ExAC gnomAD
rs368027327 CA10317991	242	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA412221653 rs1472006613	243	S>R		No	ClinGen gnomAD
rs752696038 CA10317989	244	Y>S		No	ClinGen ExAC
rs1368319955 CA412221636	245	Q>*		No	ClinGen gnomAD
rs1368319955 CA412221638	245	Q>E		No	ClinGen gnomAD
rs990948978 CA325535310	246	R>Q		No	ClinGen TOPMed gnomAD
rs767703972 CA10317988	246	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1261073556 CA412221617	247	L>F		No	ClinGen gnomAD
CA10317984 rs200130592	248	A>P		No	ClinGen ExAC gnomAD
rs200130592 CA10317985	248	A>T		No	ClinGen ExAC gnomAD
CA412221591 rs1226606231	249	D>N		No	ClinGen gnomAD
rs973555562 CA325535296	250	A>V		No	ClinGen TOPMed
CA412221556 rs1556433763	251	C>*		No	ClinGen Ensembl
rs1278627414 CA412221552	252	R>G		No	ClinGen gnomAD
CA412221536 rs1198192071	253	G>R		No	ClinGen TOPMed
CA325535283 rs962323740	254	L>F		No	ClinGen TOPMed gnomAD
CA412221505 rs1436542409	256	A>T		No	ClinGen gnomAD
CA412221472 rs1404101432	259	F>S		No	ClinGen gnomAD
rs1479030643 CA412221451	261	L>F		No	ClinGen gnomAD
COSM1224710 CA412221337 rs1160314942	266	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs370804121 CA10317953	267	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412221328 rs370804121	267	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10317952 rs756050360	272	P>L		No	ClinGen ExAC gnomAD
rs766507216 CA10317950	274	Q>*		No	ClinGen ExAC gnomAD
rs1556433385 CA412221226	277	E>*		No	ClinGen Ensembl
CA412221216 rs568727727	277	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412221194 rs1229221944	280	S>G		No	ClinGen gnomAD
CA10317942 rs775125339	281	T>A		No	ClinGen ExAC TOPMed gnomAD
rs745384978 CA10317940	287	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10317938 rs770523423	290	N>S		No	ClinGen ExAC TOPMed
rs764238173 CA412221122	291	A>E		No	ClinGen ExAC TOPMed gnomAD
rs764238173 COSM1593138 CA10317935	291	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781108386 CA10317933	292	A>V		No	ClinGen ExAC gnomAD
rs750521135 CA10317931	293	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1556433283 CA412221106	294	Q>*		No	ClinGen Ensembl
rs1485285396 CA412221097	295	A>T		No	ClinGen gnomAD
rs1556433280 CA412221073	296	E>*		No	ClinGen Ensembl
CA10317930 rs765457064	296	E>D		No	ClinGen ExAC TOPMed gnomAD
rs757458120 CA10317929	297	T>I		No	ClinGen ExAC TOPMed gnomAD
rs754206951 CA10317928	298	Q>*		No	ClinGen ExAC gnomAD
rs1556433268 CA412221030	299	E>*		No	ClinGen Ensembl
CA412221016 rs1291835077	300	L>V		No	ClinGen gnomAD
CA412220976 rs1313070755	301	L>V		No	ClinGen gnomAD
rs1302102946 CA412220900	306	A>V		No	ClinGen gnomAD
rs1388407734 CA412220885	307	D>E		No	ClinGen gnomAD
rs564047488 CA10317909	308	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564047488 CA10317908	308	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1556433168 CA412220856	310	G>*		No	ClinGen Ensembl
rs1451336902 CA412220840	311	G>A		No	ClinGen TOPMed
CA10317906 rs760172330	312	T>M		No	ClinGen ExAC TOPMed gnomAD
rs200960070 CA10317904	313	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10317903 rs762534000	314	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10317902 rs376021524	315	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1366206765 CA412220769	317	E>G		No	ClinGen TOPMed
rs769455543 CA10317901	317	E>Q		No	ClinGen ExAC gnomAD
rs1366206765 CA412220767	317	E>V		No	ClinGen TOPMed
CA412220751 rs1556433056	318	C>*		No	ClinGen Ensembl
CA10317899 rs776448534	318	C>S		No	ClinGen ExAC
CA412220758 rs1458444295	318	C>Y		No	ClinGen gnomAD
rs1240431018 CA412220748	319	V>M		No	ClinGen gnomAD
rs372068556 CA10317898	320	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA325535090 rs201295424	321	I>V		No	ClinGen Ensembl
rs1036747654 CA325535089	322	P>A		No	ClinGen TOPMed gnomAD
rs1256857066 CA412220704	322	P>L		No	ClinGen gnomAD
CA325535085 rs746975354	323	P>H		No	ClinGen ExAC TOPMed gnomAD
CA412220695 rs746975354	323	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10317897 rs746975354	323	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1556432987 CA412220686	324	L>*		No	ClinGen Ensembl
CA412220676 rs1345886236	325	P>A		No	ClinGen gnomAD
CA412220675 rs1345886236	325	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412220664 rs12159257	326	E>*		No	ClinGen Ensembl
rs12159257 CA325535078	326	E>K		No	ClinGen Ensembl
rs749408179 CA10317894	327	P>A		No	ClinGen ExAC gnomAD
CA412220625 rs1556432931	329	Q>*		No	ClinGen Ensembl
CA412220624 rs1378760080	329	Q>P		No	ClinGen gnomAD
rs1569513713 CA412220619	330	S>C		No	ClinGen Ensembl
rs756446537 CA10317892	330	S>I		No	ClinGen ExAC gnomAD
CA412220610 rs1556432916	331	Q>*		No	ClinGen Ensembl
CA412220605 rs1402431632	331	Q>H		No	ClinGen gnomAD
CA10317891 rs544578906	332	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325535071 rs1012768848	333	H>R		No	ClinGen Ensembl
rs1246202139 CA412220581	334	S>R		No	ClinGen TOPMed
rs1470518986 CA412220547	337	S>C		No	ClinGen TOPMed
CA10317889 rs368593680	338	M>L		No	ClinGen ESP ExAC gnomAD
CA412220533 rs368593680	338	M>V		No	ClinGen ESP ExAC gnomAD
rs747809306 CA325535011	339	V>A		No	ClinGen ExAC gnomAD
CA10317871 rs747809306	339	V>G		No	ClinGen ExAC gnomAD
CA325535023 rs987273448	339	V>I		No	ClinGen TOPMed gnomAD
CA412220450 rs1316770439	341	D>G		No	ClinGen gnomAD
rs924261967 CA325534998	341	D>N		No	ClinGen TOPMed gnomAD
rs780381909 CA325534996	342	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780381909 CA10317869	342	P>R		No	ClinGen ExAC TOPMed gnomAD
CA10317866 rs368521040	345	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10317865 rs368521040	345	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412220381 rs1556432675	346	L>*		No	ClinGen Ensembl
rs1478805530 CA412220373	347	A>T		No	ClinGen gnomAD
CA412220366 rs1240444312	347	A>V		No	ClinGen gnomAD
CA412220356 rs1291992934	348	D>A		No	ClinGen gnomAD
rs753421069 CA10317864	348	D>N		No	ClinGen ExAC TOPMed gnomAD
CA412220345 rs1333963925	349	L>F		No	ClinGen gnomAD
rs767336585 CA10317860	350	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767336585 CA10317861	350	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10317858 rs374863515	352	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA325534963 rs768238157	352	P>L		No	ClinGen gnomAD
rs374863515 CA412220305	352	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370145179 COSM3390314 CA10317857	353	P>L	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA10317854 rs185916020 RCV000895185	354	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs185916020 CA412220276	354	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412220284 rs1460192111	354	P>S		No	ClinGen gnomAD
rs749723222 CA412220268	355	T>K		No	ClinGen ExAC TOPMed gnomAD
rs749723222 CA10317852	355	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749723222 CA10317853	355	T>R		No	ClinGen ExAC TOPMed gnomAD
CA10317851 rs758815754	356	T>I		No	ClinGen ExAC gnomAD
CA412220253 rs1167372786	357	S>P		No	ClinGen gnomAD
CA10317849 rs546247142	358	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1238581076 CA412220221	359	S>C		No	ClinGen gnomAD
rs1238581076 CA412220220	359	S>F		No	ClinGen gnomAD
CA10317848 rs528285407	359	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA10317847 rs753378000	360	S>F		No	ClinGen ExAC TOPMed gnomAD
CA412220195 rs1556432601	362	K>*		No	ClinGen Ensembl
CA10317846 rs763624442	363	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1271903558 CA412220181	363	M>L		No	ClinGen gnomAD
CA412220183 rs1271903558	363	M>V		No	ClinGen gnomAD
CA412220164 rs1346582398	364	Q>*		No	ClinGen gnomAD
rs1346582398 CA412220163	364	Q>K		No	ClinGen gnomAD
rs1451562840 CA412219076	366	K>*		No	ClinGen gnomAD
rs1451562840 CA412219078	366	K>E		No	ClinGen gnomAD
CA412219061 rs1312019546	367	E>*		No	ClinGen TOPMed
rs1462863275 CA412219050	367	E>D		No	ClinGen gnomAD
rs1165176385 CA412219058	367	E>G		No	ClinGen TOPMed gnomAD
CA412219055 rs1165176385	367	E>V		No	ClinGen TOPMed gnomAD
rs904052173 CA325534759	369	R>C		No	ClinGen gnomAD
CA412219035 rs1263232072	369	R>H		No	ClinGen gnomAD
rs1263232072 CA412219031	369	R>L		No	ClinGen gnomAD
CA412219025 rs1487450248	370	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1043907095 CA325534753	370	A>V		No	ClinGen Ensembl
rs774745653 CA10317815	373	L>P		No	ClinGen ExAC gnomAD
CA325534740 rs760530196	374	R>Q		No	ClinGen gnomAD
rs771412531 CA10317814	374	R>W		No	ClinGen ExAC TOPMed gnomAD
rs185420687 CA325534736	375	L>Q		No	ClinGen 1000Genomes
CA10317810 rs200307726 CA10317811	376	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs780854367 CA10317809	377	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1556432087 CA412218936	378	Q>*		No	ClinGen Ensembl
rs1442820560 CA412218929	378	Q>H		No	ClinGen TOPMed gnomAD
rs1392020372 CA412218918	379	L>Q		No	ClinGen gnomAD
rs1556432069 CA412218905	381	Q>*		No	ClinGen Ensembl
rs1465835074 CA412218902	381	Q>R		No	ClinGen gnomAD
rs754722870 CA10317808	384	R>C		No	ClinGen ExAC gnomAD
rs1556432031 CA412218837	385	W>*		No	ClinGen Ensembl
rs1556432036 CA412218842	385	W>*		No	ClinGen Ensembl
CA412218822 rs1470054201	386	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765101409 CA10317803	389	V>I		No	ClinGen ExAC TOPMed gnomAD
CA412218767 rs1307058679	390	V>G		No	ClinGen gnomAD
CA412218762 rs1303975437	391	R>C		No	ClinGen gnomAD
CA412218734 rs1603433718	393	H>P		No	ClinGen Ensembl
CA412218715 rs752751209	394	P>L		No	ClinGen ExAC gnomAD
CA10317801 rs752751209	394	P>Q		No	ClinGen ExAC gnomAD
CA412218671 rs1311927795	396	P>L		No	ClinGen TOPMed
rs1447301382 CA412218679	396	P>T		No	ClinGen gnomAD
CA412218668 rs1351892286	397	V>I		No	ClinGen TOPMed
CA412218643 rs766662317	398	I>M		No	ClinGen ExAC gnomAD
rs1292771815 CA412218651	398	I>T		No	ClinGen TOPMed
rs368553565 CA10317796	399	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771686648 CA10317795	399	R>H		No	ClinGen ExAC gnomAD
CA10317794 rs770231355	401	H>Q		No	ClinGen ExAC gnomAD
rs1219429734 CA412218611	401	H>Y		No	ClinGen TOPMed
rs1556431894 CA412218598	402	K>*		No	ClinGen Ensembl
CA10317765 rs376486865	403	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA412218529 rs376486865	403	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754999203 CA10317763	405	F>L		No	ClinGen ExAC TOPMed gnomAD
rs751666427 CA10317761	406	L>V		No	ClinGen ExAC gnomAD
rs373532196 CA325534617	408	Q>R		No	ClinGen ESP TOPMed gnomAD
rs780215637 CA10317760	409	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10317759 rs758592958	409	R>H		No	ClinGen ExAC gnomAD
rs1190423826 CA412218457	410	G>W		No	ClinGen gnomAD
CA412218397 rs1455539084	415	D>H		No	ClinGen TOPMed gnomAD
CA412218383 rs1362800889	416	F>L		No	ClinGen TOPMed
rs968331085 CA325534594	418	M>I		No	ClinGen Ensembl
rs1569513437 CA412218347	418	M>T		No	ClinGen Ensembl
CA412218336 rs1556431596	419	K>*		No	ClinGen Ensembl
rs1556431584 CA412218298	422	E>*		No	ClinGen Ensembl
CA10317754 rs760223422	423	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10317752 rs558616783	427	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA10317751 rs759176937	427	A>V		No	ClinGen ExAC gnomAD
rs1316917648 CA412218189	430	V>M		No	ClinGen TOPMed gnomAD
CA412218164 rs1434827246	431	S>L		No	ClinGen gnomAD
CA412218162 rs1556431546	432	E>*		No	ClinGen Ensembl
CA10317750 rs774056074	433	R>H		No	ClinGen ExAC gnomAD
rs774056074 CA412218150	433	R>L		No	ClinGen ExAC gnomAD
CA10317747 rs777645807	435	V>I		No	ClinGen ExAC gnomAD
rs369453227 CA10317744	439	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369453227 CA325534579	439	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10317745 rs201645895	439	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10317743 rs536887912	440	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412218080 rs1055574309	445	E>*		No	ClinGen TOPMed
CA325534571 rs1055574309	445	E>K		No	ClinGen TOPMed
CA412218049 rs1468309461	448	A>S		No	ClinGen gnomAD
rs764950474 CA412218038	449	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1188020860 CA412218035	450	E>*		No	ClinGen gnomAD
CA412218037 rs1188020860	450	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10317708 rs761612425	452	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1283005265 CA412218019	452	A>V		No	ClinGen gnomAD
rs911304663 CA325534528	453	R>K		No	ClinGen Ensembl
CA10317707 rs776387674	454	M>I		No	ClinGen ExAC gnomAD
rs377045434 CA412218003	455	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377045434 CA10317705	455	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10317706 rs201158908	455	R>W		No	ClinGen ExAC TOPMed gnomAD
rs372926692 CA10317704	456	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs560523976 CA325534520	457	D>N		No	ClinGen Ensembl
rs1556431092 CA412217989	458	E>*		No	ClinGen Ensembl
rs528493695 CA10317702	458	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA10317701 rs778155251	459	N>S		No	ClinGen ExAC gnomAD
CA10317700 rs756495849	460	H>L		No	ClinGen ExAC gnomAD
CA412217973 rs756495849	460	H>P		No	ClinGen ExAC gnomAD
rs955491344 CA325534515	460	H>Y		No	ClinGen Ensembl
rs1241940829 CA412217964	461	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1556431026 CA412217961	462	Q>*		No	ClinGen Ensembl
CA10317697 rs369893426	462	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369893426 CA10317698	462	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751016208 CA10317696	463	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200831919 CA10317695	463	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1165283638 CA412217950	464	V>A		No	ClinGen gnomAD
rs750024368 CA10317694	464	V>F		No	ClinGen ExAC gnomAD
rs750024368 CA10317693	464	V>I		No	ClinGen ExAC gnomAD
rs375865140 CA10317691	466	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199833729 CA10317689	466	R>H		No	ClinGen ExAC TOPMed gnomAD
rs199833729 CA10317690	466	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM1154041 rs192339446 CA10317687	468	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1556430922 CA412217926	469	Q>*		No	ClinGen Ensembl
CA325534503 rs961125816	469	Q>R		No	ClinGen TOPMed gnomAD
CA412217920 rs541985914	470	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs541985914 CA10317686	470	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA412217901 rs1556430882	473	E>*		No	ClinGen Ensembl
rs1556430859 CA412217893	474	Q>*		No	ClinGen Ensembl
rs770177294 CA10317683	475	L>F		No	ClinGen ExAC gnomAD
rs748436700 CA10317682	476	Y>C		No	ClinGen ExAC gnomAD
rs9617016 CA412217874	477	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs9617016 CA10317681	477	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10317680 rs769035538	477	K>R		No	ClinGen ExAC TOPMed gnomAD
CA412217848 rs1556430559	479	E>*		No	ClinGen Ensembl
rs1483775034 CA412217839	480	N>T		No	ClinGen TOPMed
CA325534425 rs960921979	481	P>A		No	ClinGen TOPMed
rs752876434 CA325534422	481	P>L		No	ClinGen gnomAD
CA412217827 rs1603433585	482	Y>S		No	ClinGen Ensembl
CA412217815 rs1374828919	484	A>T		No	ClinGen gnomAD
rs761073325 CA10317644	485	V>M		No	ClinGen ExAC TOPMed gnomAD
rs772555653 CA10317642	486	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1224708 rs746443184 CA10317641	486	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA412217797 rs1419861275	487	M>I		No	ClinGen gnomAD
rs770424177 CA10317639	487	M>L		No	ClinGen ExAC
CA10317638 rs748777978	487	M>T		No	ClinGen ExAC TOPMed gnomAD
CA412217793 rs1466337363	488	H>D		No	ClinGen TOPMed
rs1252986834 CA412217784	489	K>*		No	ClinGen TOPMed gnomAD
rs1252986834 CA412217785	489	K>E		No	ClinGen TOPMed gnomAD
rs1482805906 CA412217778	490	V>L		No	ClinGen TOPMed gnomAD
CA412217770 rs1556430454	491	Q>*		No	ClinGen Ensembl
rs1212948318 CA412217754	493	P>R		No	ClinGen gnomAD
rs777450714 CA10317637	493	P>S		No	ClinGen ExAC gnomAD
CA325534401 rs373993266	494	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA412217752 rs373993266	494	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373993266 CA10317635	494	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412217748 rs1556430438	495	E>*		No	ClinGen Ensembl
rs781195528 CA10317634	497	S>I		No	ClinGen ExAC gnomAD
CA412217727 rs754823068	497	S>R		No	ClinGen ExAC gnomAD
CA10317632 rs766253537	498	H>D		No	ClinGen ExAC gnomAD
rs766253537 CA10317631	498	H>Y		No	ClinGen ExAC gnomAD
rs757323276 CA10317630	499	L>P		No	ClinGen ExAC gnomAD
CA412217714 rs1313961249	500	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10317629 rs369007269	500	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172335233 CA412217709	501	R>Q		No	ClinGen TOPMed gnomAD
CA10317628 rs764358901	501	R>W		No	ClinGen ExAC TOPMed gnomAD
CA412217705 rs1454685371	502	V>L		No	ClinGen gnomAD
rs1454685371 CA412217707	502	V>M		No	ClinGen gnomAD
CA10317626 rs775827564	503	P>L		No	ClinGen ExAC gnomAD
CA10317624 rs759909473	504	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759909473 CA10317625	504	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA412217690 rs1255451855	505	P>R		No	ClinGen gnomAD
CA325534378 rs946759112	505	P>S		No	ClinGen gnomAD
CA412217693 rs946759112	505	P>T		No	ClinGen gnomAD
rs1254591186 CA412217681	506	F>L		No	ClinGen TOPMed
rs1265779169 CA412217678	507	P>L		No	ClinGen gnomAD
rs370122832 CA10317622	507	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412217672 rs1294559270	508	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1294559270 CA412217674	508	R>Q		No	ClinGen TOPMed gnomAD
rs756061176 CA10317620	508	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1242042304 CA412217661	510	D>E		No	ClinGen gnomAD
rs375763232 CA325534363	510	D>H		No	ClinGen ESP TOPMed
rs1556430354 CA412217657	511	E>*		No	ClinGen Ensembl
rs1418684945 CA412217653	511	E>D		No	ClinGen TOPMed
rs1334159975 CA412217641	513	T>S		No	ClinGen gnomAD
rs878969930 CA325534352	514	V>G		No	ClinGen Ensembl
CA412217638 rs1391302083	514	V>M		No	ClinGen TOPMed gnomAD
rs1556430323 CA412217632	515	Q>*		No	ClinGen Ensembl
rs1556430318 CA412217620	516	W>*		No	ClinGen Ensembl
rs1556430320 CA412217621	516	W>*		No	ClinGen Ensembl
rs1603433558 CA412217608	518	V>G		No	ClinGen Ensembl
CA10317617 rs531050311	518	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1556430296 CA412217595	520	Q>*		No	ClinGen Ensembl
CA325534346 rs982317435	521	A>P		No	ClinGen Ensembl
rs1418904235 CA412217584	522	A>T		No	ClinGen gnomAD
CA10317616 rs754774196	522	A>V		No	ClinGen ExAC gnomAD
CA325534342 rs750411731	523	A>T		No	ClinGen Ensembl
rs868063263 CA325534340	523	A>V		No	ClinGen gnomAD
rs1556430242 CA412217573	524	K>*		No	ClinGen Ensembl
CA10317614 rs780013691	524	K>R		No	ClinGen ExAC gnomAD
CA10317612 rs753941615	525	M>R		No	ClinGen ExAC TOPMed gnomAD
rs1556430212 CA412217559	526	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA412217556 rs1207918430	526	Q>H		No	ClinGen gnomAD
rs764147010 CA10317611	526	Q>R		No	ClinGen ExAC gnomAD
CA412217549 rs1468624026	527	G>V		No	ClinGen gnomAD
rs1274724297 CA412217545	528	A>E		No	ClinGen gnomAD
CA10317609 rs752860437	529	P>R		No	ClinGen ExAC gnomAD
CA10317610 rs530229185	529	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1367741304 CA412217504	535	E>*		No	ClinGen TOPMed gnomAD
rs1367741304 CA412217506	535	E>K		No	ClinGen TOPMed gnomAD
CA412217491 rs1241236086	537	R>G		No	ClinGen TOPMed
rs1295821187 CA412217489	537	R>K		No	ClinGen TOPMed gnomAD
rs1434895831 CA412217486	537	R>S		No	ClinGen gnomAD
rs1295821187 CA412217488	537	R>T		No	ClinGen TOPMed gnomAD
rs541309044 CA10317606	538	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412217478 rs1215189145	539	T>A		No	ClinGen TOPMed
rs1325859450 CA412217474	539	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1390126652 CA412217473	540	V>M		No	ClinGen gnomAD
rs1451290684 CA412217467	541	P>S		No	ClinGen TOPMed gnomAD
rs769125636 CA412217447	544	P>H		No	ClinGen ExAC TOPMed gnomAD
CA10317602 rs769125636	544	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10317603 rs532038110	544	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs927028030 CA325534318	545	P>L		No	ClinGen TOPMed gnomAD
CA325534319 rs866083002	545	P>S		No	ClinGen gnomAD
CA10317600 rs761712897	546	M>T		No	ClinGen ExAC TOPMed gnomAD
CA412217400 rs1173666513	547	T>I		No	ClinGen TOPMed gnomAD
rs374844148 CA10317572	549	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412217368 rs755051942	551	E>*		No	ClinGen ExAC gnomAD
rs1471291563 CA412217366	551	E>A		No	ClinGen gnomAD
CA10317570 rs755051942	551	E>K		No	ClinGen ExAC gnomAD
CA10317568 rs780343478	552	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751671159 CA10317569 COSM1172783	552	R>W	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1381479747 CA412217345	553	C>*		No	ClinGen TOPMed
rs1483848685 CA412217347	553	C>Y		No	ClinGen gnomAD
CA412217306 rs904336518	557	H>P		No	ClinGen TOPMed gnomAD
rs904336518 CA325534225	557	H>R		No	ClinGen TOPMed gnomAD
rs1442208426 CA412217287	559	N>S		No	ClinGen TOPMed gnomAD
CA10317565 rs765819526	560	S>G		No	ClinGen ExAC gnomAD
CA412217272 rs1287770905	561	A>T		No	ClinGen TOPMed gnomAD
rs200821257 RCV000238616 RCV001854918 CA10317562	562	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1203430379 CA412217263	562	R>W		No	ClinGen TOPMed
rs760247212 CA10317561	563	R>Q		No	ClinGen ExAC gnomAD
CA412217258 rs1301087859	563	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412217239 rs1556429621	565	E>*		No	ClinGen Ensembl
rs950951796 CA325534211	565	E>D		No	ClinGen gnomAD
rs1603433493 CA412217224	566	V>G		No	ClinGen Ensembl
rs1473549040 CA412217230	566	V>L		No	ClinGen TOPMed
rs1164984404 CA412217217	567	V>A		No	ClinGen gnomAD
rs774188091 CA10317557	568	R>C		No	ClinGen ExAC gnomAD
rs749152774 CA10317555	569	N>S		No	ClinGen ExAC TOPMed gnomAD
CA412217201 rs749152774	569	N>T		No	ClinGen ExAC TOPMed gnomAD
rs768670818 CA412217186	570	C>*		No	ClinGen ExAC
CA412217182 rs1249068748	571	I>V		No	ClinGen gnomAD
rs1463693881 CA412217164	572	S>F		No	ClinGen gnomAD
rs747142107 CA10317552	573	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA412217147 rs1310418764	574	V>A		No	ClinGen gnomAD
rs571417711 CA10317550	574	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10317549 rs746208885	575	F>L		No	ClinGen ExAC gnomAD
rs1556429509 CA412217129	576	E>*		No	ClinGen Ensembl
rs1556429502 CA412217106	578	K>*		No	ClinGen Ensembl
rs1362354655 CA412217103	578	K>R		No	ClinGen TOPMed gnomAD
CA10317547 CA325534184 rs757701114	579	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1432699199 CA412217095	579	M>L		No	ClinGen gnomAD
rs1432699199 CA412217097	579	M>V		No	ClinGen gnomAD
CA10317546 rs754340582	580	L>P		No	ClinGen ExAC gnomAD
CA412217069 rs1556429440	581	E>*		No	ClinGen Ensembl
rs1458938046 CA412217061	581	E>D		No	ClinGen TOPMed gnomAD
CA412217043 rs1347629950	582	A>V		No	ClinGen gnomAD
CA412217037 rs1556429402	583	K>*		No	ClinGen Ensembl
rs764722104 CA10317545	583	K>R		No	ClinGen ExAC gnomAD
rs751160751 CA10317522	586	L>H		No	ClinGen ExAC gnomAD
CA325533640 rs957648613	586	L>V		No	ClinGen TOPMed
rs1409834253 CA412215505	588	A>D		No	ClinGen gnomAD
CA412215518 rs1300244834	588	A>T		No	ClinGen gnomAD
CA10317520 rs762703258	589	V>M		No	ClinGen ExAC gnomAD
rs1475920897 CA412215465	591	R>K		No	ClinGen gnomAD
rs998878415 CA325533609	592	A>V		No	ClinGen TOPMed gnomAD
CA412215419 rs1370529629	593	L>M		No	ClinGen gnomAD
rs1556428039 CA412215399	594	K>*		No	ClinGen Ensembl
CA325533607 rs867608538	594	K>R		No	ClinGen gnomAD
rs1569512949 CA412215363	596	R>*		No	ClinGen Ensembl
rs571518703 CA325533600	596	R>Q		No	ClinGen gnomAD
rs1175638961 CA412215344	597	A>V		No	ClinGen gnomAD
rs1181203228 CA412215317	598	A>V		No	ClinGen TOPMed
rs750270208 CA10317519	599	R>C		No	ClinGen ExAC gnomAD
CA10317518 rs765075044	599	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412215309 rs750270208	599	R>S		No	ClinGen ExAC gnomAD
CA10317516 rs578021802	600	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10317517 rs578021802	600	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10317515 rs773556610	600	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412215252 rs1389196699	601	C>*		No	ClinGen TOPMed
CA10317513 rs774675728	601	C>R		No	ClinGen ExAC gnomAD
CA10317512 rs771320034	601	C>S		No	ClinGen ExAC
rs1389196699 CA412215251	601	C>W		No	ClinGen TOPMed
rs966338815 CA412215223	603	A>S		No	ClinGen TOPMed gnomAD
rs966338815 CA325533593	603	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412215207 rs1556427966	604	Q>*		No	ClinGen Ensembl
CA412215189 rs1556427960	605	E>*		No	ClinGen Ensembl
rs778265494 CA10317510	607	H>L		No	ClinGen ExAC gnomAD
CA325533582 rs1010436772	607	H>Q		No	ClinGen Ensembl
rs748630023 CA10317508	609	H>R		No	ClinGen ExAC gnomAD
rs770057605 CA10317509	609	H>Y		No	ClinGen ExAC gnomAD
CA325533576 rs907176385	610	V>A		No	ClinGen TOPMed gnomAD
rs1387662648 CA412215079	610	V>L		No	ClinGen TOPMed
CA412215068 rs1335534067	611	Q>*		No	ClinGen gnomAD
rs1556427883 CA412215049	612	Q>*		No	ClinGen Ensembl
rs1398089828 CA412215039	612	Q>H		No	ClinGen gnomAD
rs781568455 CA10317507	614	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781568455 CA412215003	614	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10317506 rs754441426	614	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs183532262 CA412214978	615	A>G		No	ClinGen 1000Genomes ESP TOPMed
CA325533571 rs748342952	615	A>S		No	ClinGen TOPMed
CA325533569 rs183532262	615	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP NCI-TCGA TOPMed
CA10317505 rs751107533	618	D>H		No	ClinGen ExAC TOPMed gnomAD
CA412214890 rs1472342491	619	H>Q		No	ClinGen TOPMed gnomAD
rs1556427822 CA412214881	620	Q>*		No	ClinGen Ensembl
rs1368913644 CA412214859	621	Q>*		No	ClinGen gnomAD
CA325533553 rs374881565	621	Q>H		No	ClinGen ESP TOPMed gnomAD
rs1465962338 CA412214710	626	V>A		No	ClinGen gnomAD
rs1465962338 CA412214723	626	V>D		No	ClinGen gnomAD
CA10317503 rs146850293	626	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10317501 rs765020097	627	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761531550 COSM1641589 CA10317500	627	R>H	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA325533529 rs904822734	628	M>T		No	ClinGen Ensembl
CA412214649 rs1159138188	629	M>I		No	ClinGen TOPMed
CA412214656 rs1285248324	629	M>T		No	ClinGen gnomAD
rs753761140 CA10317499	630	N>S		No	ClinGen ExAC gnomAD
CA412214607 rs1556427764	631	C>*		No	ClinGen Ensembl
rs372442489 CA412213978	632	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs763970595 CA10317498	632	C>R		No	ClinGen ExAC gnomAD
CA325532883 rs376417170	632	C>S		No	ClinGen ESP TOPMed gnomAD
rs774624333 CA10317496	633	L>M		No	ClinGen ExAC gnomAD
rs1556427721 CA412213956	634	Q>*		No	ClinGen Ensembl
CA412213758 rs1411547414	635	D>N		No	ClinGen gnomAD
CA412213711 rs758473187	636	C>*		No	ClinGen ExAC TOPMed gnomAD
CA412213727 rs1438250602	636	C>R		No	ClinGen gnomAD
CA10317459 rs758473187	636	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1327921419 CA412213692	637	T>I		No	ClinGen gnomAD
CA412213694 rs1327921419	637	T>S		No	ClinGen gnomAD
CA412213619 rs199783239	641	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10317456 rs567118787	641	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA10317455 rs776918267	642	H>R		No	ClinGen ExAC TOPMed gnomAD
rs764386345 CA10317454	643	G>D		No	ClinGen ExAC TOPMed gnomAD
CA412213565 rs1183765285	643	G>S		No	ClinGen gnomAD
rs1231735491 CA412213552	644	I>F		No	ClinGen gnomAD
rs761050386 CA10317453	644	I>M		No	ClinGen ExAC gnomAD
CA10317452 rs775939925	645	A>V		No	ClinGen ExAC gnomAD
CA10317450 rs745364202	646	A>V		No	ClinGen ExAC TOPMed
CA10317448 rs770477117	648	L>R		No	ClinGen ExAC
CA325532781 rs557476552	650	P>S		No	ClinGen 1000Genomes
CA412213362 rs1384658473	654	A>G		No	ClinGen TOPMed
CA10317443 rs781252590	654	A>S		No	ClinGen ExAC TOPMed gnomAD
CA412213318 rs1448406861	656	C>*		No	ClinGen gnomAD
CA10317440 rs778794053	657	R>L		No	ClinGen ExAC gnomAD
rs778794053 CA412213313	657	R>Q		No	ClinGen ExAC gnomAD
CA10317441 rs568904413	657	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772100239 CA412213154	660	S>I		No	ClinGen ExAC TOPMed gnomAD
rs772100239 CA412213157	660	S>N		No	ClinGen ExAC TOPMed gnomAD
CA10317401 rs772100239	660	S>T		No	ClinGen ExAC TOPMed gnomAD
CA10317399 rs777899824	661	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749360631 CA10317400	661	P>S		No	ClinGen ExAC gnomAD
rs1424367843 CA412213109	662	G>E		No	ClinGen gnomAD
CA10317395 rs755263219	663	V>M		No	ClinGen ExAC gnomAD
rs1426938973 CA412213063	664	T>M		No	ClinGen gnomAD
CA412213052 rs1556426716	665	Q>*		No	ClinGen Ensembl
rs1556426704 CA412212885	670	C>*		No	ClinGen Ensembl
CA412212906 rs1191843240	670	C>R		No	ClinGen gnomAD
rs1489510064 CA412212873	671	V>L		No	ClinGen gnomAD
rs757628930 CA325532722	672	Q>*		No	ClinGen Ensembl
CA412212830 rs1556426693	673	E>*		No	ClinGen Ensembl
CA325532719 rs368567017	674	H>L		No	ClinGen ESP
CA10317392 rs759040423	674	H>Y		No	ClinGen ExAC gnomAD
CA412212775 rs1276480774	675	V>M		No	ClinGen gnomAD
CA325532717 rs996404045	676	V>A		No	ClinGen TOPMed gnomAD
CA325532718 rs749529527	676	V>L		No	ClinGen gnomAD
CA412212758 rs749529527	676	V>M		No	ClinGen gnomAD
CA412212725 rs1556426645	677	W>*		No	ClinGen Ensembl
CA325532715 rs1063900	677	W>*		No	ClinGen Ensembl
rs1301792374 CA412212662	678	S>I		No	ClinGen gnomAD
CA10317387 rs776108357	679	T>A		No	ClinGen ExAC TOPMed gnomAD
rs763847148 CA10317386	679	T>M		No	ClinGen ExAC TOPMed gnomAD
COSM3390312 rs775416935 CA10317384	680	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA325532711 rs775416935	680	P>Q		No	ClinGen ExAC gnomAD
rs1556426606 CA412212599	681	Q>*		No	ClinGen Ensembl
rs1372655287 CA412212594	681	Q>R		No	ClinGen gnomAD
CA412212535 rs1556426591	683	W>*		No	ClinGen Ensembl
CA412212504 rs1434934933	683	W>*		No	ClinGen gnomAD
CA412212498 rs1556426577	684	E>*		No	ClinGen Ensembl
CA10317381 rs769822041 CA10317380	686	M>I		No	ClinGen ExAC TOPMed gnomAD
CA412212414 rs1253968584	687	F>L		No	ClinGen gnomAD
CA412212405 rs1193789167	688	Y>C		No	ClinGen gnomAD
CA10317378 rs781244881	689	G>W		No	ClinGen ExAC gnomAD
rs1321021268 CA412212380	690	D>N		No	ClinGen gnomAD
rs1351639840 CA412212320	692	Q>*		No	ClinGen gnomAD
CA10317376 rs747329098	693	T>I		No	ClinGen ExAC TOPMed gnomAD
CA412212263 rs1389973443	694	H>R		No	ClinGen gnomAD
rs758845235 CA10317374	695	I>V		No	ClinGen ExAC gnomAD
rs756798043 CA10317371	696	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10317372 rs556513677	696	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753438191 CA10317370	697	A>D		No	ClinGen ExAC gnomAD
CA412212113 rs1179599730	700	L>R		No	ClinGen gnomAD
CA412212109 rs1418246425	701	E>K		No	ClinGen gnomAD
rs1256557109 CA412212081	702	P>A		No	ClinGen TOPMed gnomAD
rs760447577 COSM1241701 CA10317368	702	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760447577 CA10317369	702	P>R		No	ClinGen ExAC gnomAD
rs1256557109 CA412212084	702	P>T		No	ClinGen TOPMed gnomAD
CA10317367 rs775012366	703	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10317365 rs759353918	705	D>E		No	ClinGen ExAC gnomAD
CA412211950 rs1237568158	706	L>P		No	ClinGen gnomAD
CA10317363 rs770899422	707	A>T		No	ClinGen ExAC gnomAD
CA412211924 rs1313860156	707	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1336333621 CA412211897	708	P>L		No	ClinGen gnomAD
CA412211916 rs1380767147	708	P>T		No	ClinGen gnomAD
CA412211843 rs1156938120	709	A>G		No	ClinGen gnomAD
CA10317359 rs747193603	709	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1156938120 CA412211841	709	A>V		No	ClinGen gnomAD
CA412211830 rs1322011096	710	Q>*		No	ClinGen TOPMed
CA10317319 rs760786257	711	E>G		No	ClinGen ExAC gnomAD
rs1167017979 CA412211592	712	V>A		No	ClinGen gnomAD
CA412211600 rs1299219655	712	V>F		No	ClinGen TOPMed
rs1556426197 CA412211551	714	E>*		No	ClinGen Ensembl
rs759770042 CA10317316	716	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10317315 rs774730613	717	S>F		No	ClinGen ExAC gnomAD
rs1268805102 CA412211468	717	S>T		No	ClinGen gnomAD
CA412211339 rs376310469	720	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771280609 CA10317314	720	D>G		No	ClinGen ExAC gnomAD
CA412211356 rs1439977513	720	D>Y		No	ClinGen gnomAD
rs1037936332 CA325532659	721	E>K		No	ClinGen TOPMed gnomAD
CA10317312 rs773744488	722	R>C		No	ClinGen ExAC gnomAD
rs770257889 CA10317311	722	R>H		No	ClinGen ExAC gnomAD
CA10317309 rs780613638	723	S>P		No	ClinGen ExAC TOPMed gnomAD
CA10317308 rs369314611	724	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746613122 CA10317307	725	L>P		No	ClinGen ExAC gnomAD
rs907908273 CA325532656	727	V>M		No	ClinGen TOPMed
rs758182497 CA412211203	728	A>S		No	ClinGen ExAC gnomAD
rs758182497 CA10317305	728	A>T		No	ClinGen ExAC gnomAD
CA412211151 rs1556426099	730	E>*		No	ClinGen Ensembl
rs765208173 CA412211127	731	Q>*		No	ClinGen ExAC gnomAD
CA10317303 rs765208173	731	Q>E		No	ClinGen ExAC gnomAD
rs1000291288 CA325532652	732	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757209579 CA10317302	732	R>W		No	ClinGen ExAC TOPMed gnomAD
rs377118893 CA10317301	733	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1556426086 CA412211073	734	L>*		No	ClinGen Ensembl
CA412211046 rs1556426084	735	W>*		No	ClinGen Ensembl
CA412211038 rs1556426082	735	W>*		No	ClinGen Ensembl
rs1435420604 CA412211003	737	T>S		No	ClinGen TOPMed
CA412210987 rs1181565248	738	L>V		No	ClinGen gnomAD
rs369669175 CA10317297	740	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs575816391 CA10317296	740	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA412210934 rs1556426074	741	E>*		No	ClinGen Ensembl
CA412210918 rs1322988702	742	K>*		No	ClinGen gnomAD
CA412210922 rs1322988702	742	K>E		No	ClinGen gnomAD
CA412210893 rs1556426069	743	Q>*		No	ClinGen Ensembl
rs1556426067 CA412210863	744	Q>*		No	ClinGen Ensembl
CA412210851 rs1556426065	745	E>*		No	ClinGen Ensembl
rs1362525741 CA412210811	747	V>A		No	ClinGen TOPMed
rs1556426057 CA412210802	748	Q>*		No	ClinGen Ensembl
CA412210771 rs1433717897	749	K>*		No	ClinGen TOPMed
CA412210774 rs1433717897	749	K>E		No	ClinGen TOPMed
CA325532650 rs776661139	749	K>N		No	ClinGen Ensembl
rs1556426048 CA412210751	750	E>*		No	ClinGen Ensembl
rs1556426045 CA412210720	751	E>*		No	ClinGen Ensembl
CA412210648 rs1603432982	754	V>G		No	ClinGen Ensembl
CA10317291 rs777145582	757	Q>*		No	ClinGen ExAC
CA412210558 rs1378038674	758	A>G		No	ClinGen TOPMed gnomAD
rs768112475 CA10317290	758	A>P		No	ClinGen ExAC gnomAD
CA412210561 rs1378038674	758	A>V		No	ClinGen TOPMed gnomAD
rs1468813021 CA412210493	761	Y>C		No	ClinGen TOPMed gnomAD
rs1431191421 CA412210501	761	Y>H		No	ClinGen TOPMed gnomAD
rs1464563126 CA412210475	762	A>T		No	ClinGen TOPMed
CA412210445 rs1388782840	763	N>S		No	ClinGen gnomAD
CA10317287 rs372906814	764	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10317286 rs200624784	764	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200624784 CA10317285	764	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170715437 CA412210420	765	M>V		No	ClinGen TOPMed
rs1032692175 CA325532645	766	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA412210367 rs1457597516	767	Y>F		No	ClinGen TOPMed
CA10317283 rs753781480	768	L>F		No	ClinGen ExAC TOPMed gnomAD
CA412210319 rs1489023871	770	L>P		No	ClinGen gnomAD
CA412210304 rs1182027392	771	P>L		No	ClinGen gnomAD
CA325532641 rs374958663	772	L>P		No	ClinGen ESP TOPMed gnomAD
CA10317280 rs552642724	772	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1260370022 CA412210265	773	D>G		No	ClinGen gnomAD
CA412210252 rs1603432969 RCV000997952	774	S>G		No	ClinGen ClinVar Ensembl dbSNP
rs763014252 CA10317279	774	S>I		No	ClinGen ExAC TOPMed gnomAD
CA10317278 rs763014252	774	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412210203 rs1556425963	776	K>*		No	ClinGen Ensembl
CA325532640 rs556408484	776	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs771243551 CA325532639	777	S>N		No	ClinGen Ensembl
CA412210175 rs762195161	777	S>R		No	ClinGen ExAC gnomAD
CA10317274 rs777090431	778	R>C		No	ClinGen ExAC gnomAD
rs769202141 CA10317273	778	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769202141 CA325532635	778	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10317271 rs774932394	780	L>V		No	ClinGen ExAC TOPMed gnomAD
rs771617687 CA10317270	781	R>W		No	ClinGen ExAC gnomAD
CA325532633 rs745455990 CA10317269	782	E>D		No	ClinGen ExAC gnomAD
CA10317268 rs368118073	783	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199791079 CA10317267	783	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10317265 rs777835784	784	A>T		No	ClinGen ExAC gnomAD
rs756183017 CA10317264	784	A>V		No	ClinGen ExAC gnomAD
rs758526336 CA10317261	785	G>E		No	ClinGen ExAC gnomAD
CA10317262 rs368432657	785	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA412209983 rs368432657	785	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412209974 rs1223186544	787	G>R		No	ClinGen gnomAD
CA10317258 rs762142283	788	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10317259 rs371155431	788	D>N	Variant assessed as Somatic; 0.0001684 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs558438739 CA10317255	792	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs537367489 CA10317254	792	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA412209909 rs1415421246	793	S>G		No	ClinGen gnomAD
rs1293643106 CA412209885	794	N>S		No	ClinGen gnomAD
CA412209873 rs1368021053	795	S>N		No	ClinGen gnomAD
rs755442032 CA10317213	801	M>R		No	ClinGen ExAC gnomAD
CA10317214 rs767903073	801	M>V		No	ClinGen ExAC gnomAD
rs1404048144 CA412209703	802	A>T		No	ClinGen gnomAD
CA412209647 rs1365471017	807	E>*		No	ClinGen gnomAD
CA412209650 rs1365471017	807	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10317208 rs764989419	809	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA412209588 rs1243354363	810	D>G		No	ClinGen gnomAD
CA325532590 rs754556678	811	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412209567 rs1556425820	812	E>*		No	ClinGen Ensembl
CA10317206 rs776557318	813	S>G		No	ClinGen ExAC gnomAD
CA10317204 rs746908800	814	G>C		No	ClinGen ExAC TOPMed gnomAD
rs746908800 CA325532587	814	G>S		No	ClinGen ExAC TOPMed gnomAD
rs770960734 CA412209507	816	E>*		No	ClinGen ExAC TOPMed gnomAD
rs770960734 CA10317202	816	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1353498552 CA412209504	816	E>V		No	ClinGen gnomAD
CA10317200 rs777953280	817	D>V		No	ClinGen ExAC TOPMed gnomAD
CA10317201 rs749413495	817	D>Y		No	ClinGen ExAC gnomAD
rs1556425798 CA412209482	819	E>*		No	ClinGen Ensembl
rs748320107 CA10317198	820	T>I		No	ClinGen ExAC gnomAD
CA412209454 rs752069912	821	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1569512384 CA412209448	822	D>H		No	ClinGen Ensembl
CA412209450 COSM3783575 rs1569512384	822	D>N	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs574079712 CA10317191	823	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA325532578 rs371753062	824	A>D		No	ClinGen ESP TOPMed gnomAD
CA412209406 rs1166096549	825	G>R		No	ClinGen TOPMed
CA412209379 rs1405143481	826	A>V		No	ClinGen gnomAD
CA10317188 rs552679685	829	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1466990466 CA412209314	831	I>V		No	ClinGen TOPMed
CA412209306 rs1603432894	832	N>D		No	ClinGen Ensembl
rs760496211 CA10317186	832	N>S		No	ClinGen ExAC gnomAD
rs775377891 CA10317185	833	R>C		No	ClinGen ExAC gnomAD
rs772050135 CA10317184	833	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412209241 rs1228220637	835	V>A		No	ClinGen gnomAD
rs1293562267 CA412209229	836	D>Y		No	ClinGen gnomAD
CA412209209 rs1556425737	837	K>*		No	ClinGen Ensembl
CA412209167 rs769772538	839	C>*		No	ClinGen ExAC gnomAD
rs1366128535 CA412209161	840	T>A		No	ClinGen gnomAD
CA10317180 rs748349988	840	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412209145 rs1556425721	841	E>*		No	ClinGen Ensembl
rs1389548340 CA412209140	841	E>G		No	ClinGen gnomAD
CA412209133 rs1432996463	842	S>N		No	ClinGen TOPMed
rs1476089917 CA412209078	845	T>A		No	ClinGen gnomAD
CA412209035 rs1191869028	847	D>N		No	ClinGen TOPMed gnomAD
rs1556425709 CA412208990	850	K>*		No	ClinGen Ensembl
rs780693875 CA10317176	853	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1489977026 CA412208937	854	V>G		No	ClinGen gnomAD
CA412208927 rs1289393150	855	M>T		No	ClinGen gnomAD
rs1196565815 CA412208907	857	P>S		No	ClinGen gnomAD
rs777471295 CA10317151	858	D>G		No	ClinGen ExAC gnomAD
CA10317150 rs755836294	859	I>V		No	ClinGen ExAC gnomAD
CA412208833 rs1556425645	861	Q>*		No	ClinGen Ensembl
rs1425090347 CA412208815	862	M>I		No	ClinGen gnomAD
CA412208820 rs1413208903	862	M>L		No	ClinGen gnomAD
CA412208807 rs1159505335	863	H>Y		No	ClinGen gnomAD
rs1236556703 CA412208796	864	I>V		No	ClinGen gnomAD
CA412208784 rs1556425629	865	E>*		No	ClinGen Ensembl
CA325532546 rs991941364	866	T>A		No	ClinGen Ensembl
rs1556425619 CA412208749	868	E>*		No	ClinGen Ensembl
rs1343487002 CA412208734	869	A>V		No	ClinGen TOPMed
rs1556425608 CA412208717	871	Q>*		No	ClinGen Ensembl
CA10317143 rs776640916	871	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA412208704 rs760922524	872	R>P		No	ClinGen ExAC TOPMed gnomAD
rs760922524 CA10317141	872	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764274487 CA10317142	872	R>W		No	ClinGen ExAC TOPMed gnomAD
CA412208701 rs1556425594	873	E>*		No	ClinGen Ensembl
CA412208683 rs370650062	875	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10317139 rs370650062	875	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412208685 rs1246195775	875	R>W		No	ClinGen gnomAD
rs774901635 CA10317137	876	R>K		No	ClinGen ExAC gnomAD
rs528597678 CA10317136	878	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA412208666 rs1378807089	879	P>S		No	ClinGen gnomAD
CA412208653 rs1445400750	881	Q>E		No	ClinGen gnomAD
CA10317134 rs777202740	881	Q>H		No	ClinGen ExAC gnomAD
rs1387314039 CA412208650	881	Q>R		No	ClinGen gnomAD
CA10317105 rs752885374	883	P>L		No	ClinGen ExAC gnomAD
CA412208621 rs1556425535	884	K>*		No	ClinGen Ensembl
rs759614594 CA10317104	884	K>R		No	ClinGen ExAC TOPMed gnomAD
CA10317103 rs759614594	884	K>T		No	ClinGen ExAC TOPMed gnomAD
RCV000910419 CA10317102 rs202055128	885	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA412208605 rs1172619016	887	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10317100 rs372390926	887	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209321316 CA412208599	888	P>L		No	ClinGen TOPMed gnomAD
CA10317098 rs770341256	889	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201519518 CA10317097	889	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1190417934 CA412208588	891	L>V		No	ClinGen TOPMed gnomAD
CA10317094 rs746593098	892	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1234316866 CA412208581	892	P>S		No	ClinGen gnomAD
CA10317091 rs745707673	893	G>D		No	ClinGen ExAC gnomAD
CA412208577 rs1263259591	893	G>S		No	ClinGen gnomAD
rs1314478133 CA412208565	895	E>K		No	ClinGen gnomAD
CA412208554 rs1242707424	896	C>Y		No	ClinGen TOPMed
CA10317090 rs778983208	899	D>G		No	ClinGen ExAC TOPMed gnomAD
CA325532495 rs964999447	899	D>H		No	ClinGen TOPMed
rs1300163820 CA412208530	900	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766669723 CA10317084	902	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763212089 CA10317083	902	R>H		No	ClinGen ExAC gnomAD
CA325532488 rs1008421888	903	V>I		No	ClinGen TOPMed gnomAD
rs762248647 CA10317080	904	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs762248647 CA412208509	904	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs775026638 CA10317076	907	P>L		No	ClinGen ExAC TOPMed gnomAD
CA412208486 rs1232963851	908	D>G		No	ClinGen gnomAD
rs896567076 CA325532484	909	G>E		No	ClinGen TOPMed
CA10317074 rs368629580	910	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10317073 rs774352417	910	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774352417 CA412208474	910	R>L		No	ClinGen ExAC TOPMed gnomAD
CA412208472 rs1238181031	911	E>K		No	ClinGen gnomAD
rs372919965 CA10317071	913	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412208449 rs374897003	914	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs755038470 CA10317069	914	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10317068 rs374897003	914	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA412208444 rs1156632392	915	G>E		No	ClinGen gnomAD
rs1385551206 CA412208436	916	G>V		No	ClinGen gnomAD
CA10317064 rs750631594	917	S>G		No	ClinGen ExAC gnomAD
rs765639241 CA10317063	917	S>I		No	ClinGen ExAC gnomAD
rs750631594 CA412208435	917	S>R		No	ClinGen ExAC gnomAD
rs757587970 CA10317062	918	A>V		No	ClinGen ExAC gnomAD
rs866980656 CA412208414	920	G>E		No	ClinGen gnomAD
rs1288526617 CA412208418	920	G>R		No	ClinGen gnomAD
rs866980656 CA325532475	920	G>V		No	ClinGen gnomAD
rs1353247704 CA412208407	922	A>T		No	ClinGen gnomAD
rs1316061544 CA412208404	922	A>V		No	ClinGen TOPMed gnomAD
CA412208399 rs1556425412	923	L>*		No	ClinGen Ensembl
CA325532472 rs370180157	925	P>S		No	ClinGen ESP gnomAD
CA412208366 rs1418932068	928	G>D		No	ClinGen gnomAD
CA412208369 rs1296112206	928	G>S		No	ClinGen gnomAD
rs1164678857 CA412208362	929	A>T		No	ClinGen gnomAD
CA412208358 rs1456091528	929	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412208346 rs1283027387	931	F>L		No	ClinGen TOPMed
CA412208350 rs1370273118	931	F>V		No	ClinGen TOPMed
CA412208338 rs1603432794	933	T>P		No	ClinGen Ensembl
rs759317318 CA412208328	934	T>M		No	ClinGen ExAC gnomAD
rs759317318 CA10317056	934	T>R		No	ClinGen ExAC gnomAD
CA10317054 rs770886283	936	R>Q		No	ClinGen ExAC gnomAD
rs1488694893 CA412208318	936	R>W		No	ClinGen gnomAD
CA10317053 rs749046455	940	T>M		No	ClinGen ExAC gnomAD
rs1276284048 CA412208278	942	M>I		No	ClinGen gnomAD
rs748033868 CA10317050	942	M>L		No	ClinGen ExAC gnomAD
rs200220290 CA10317049	943	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001869159 rs987368963 RCV000781832 CA325532466	944	T>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs779067462 CA10317046	945	D>G		No	ClinGen ExAC gnomAD
rs757639561 CA412208257	946	P>S		No	ClinGen ExAC gnomAD
rs757639561 CA10317045	946	P>T		No	ClinGen ExAC gnomAD
rs1556425189 CA412208223	950	E>*		No	ClinGen Ensembl
rs1451757709 CA412208218	950	E>D		No	ClinGen TOPMed
CA412208214 rs1556425186	951	Q>*		No	ClinGen Ensembl
rs748407990 CA10316994	952	V>M		No	ClinGen ExAC gnomAD
CA10316992 rs755612597	955	R>C		No	ClinGen ExAC gnomAD
CA412208189 rs1478255913	955	R>H		No	ClinGen gnomAD
rs752102454 CA412208182	956	S>C		No	ClinGen ExAC TOPMed gnomAD
rs752102454 CA10316991	956	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA325532393 rs868188767	956	S>F		No	ClinGen Ensembl
CA412208175 rs1425995206	957	F>L		No	ClinGen gnomAD
rs779761585 CA10316990	957	F>V		No	ClinGen ExAC gnomAD
CA412208168 rs1473194564	959	V>M		No	ClinGen gnomAD
rs1191642508 CA412208162	960	A>T		No	ClinGen gnomAD
rs1556425146 CA412207843	965	E>*		No	ClinGen Ensembl
CA412207837 rs1556425141	966	K>*		No	ClinGen Ensembl
rs753562509 CA10316985	967	R>C		No	ClinGen ExAC gnomAD
rs1218607139 CA412207827	967	R>H		No	ClinGen gnomAD
rs376364128 CA10316984 RCV000756612	968	I>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs576176809 CA10316981	970	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs543518148 CA10316982 COSM1593143	970	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1490675948 CA412207803	971	Q>P		No	ClinGen TOPMed
rs561078759 CA10316979	972	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs542798666 CA412207792	973	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542798666 CA10316977	973	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372582556 CA325532206	976	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs747560347 CA10316974	978	L>P		No	ClinGen ExAC gnomAD
rs1556425105 CA412207755	979	Q>*		No	ClinGen Ensembl
rs1252953498 CA412207747	980	D>Y		No	ClinGen TOPMed
rs1369119607 CA412207721	984	L>M		No	ClinGen TOPMed
COSM3842950 rs1425280900 CA412207714	985	R>C	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs933890831 CA412207701	987	C>S		No	ClinGen TOPMed
rs933890831 CA325532200	987	C>Y		No	ClinGen TOPMed
CA412207696 rs768291509	988	T>A		No	ClinGen ExAC gnomAD
rs753474250 CA10316968	988	T>I		No	ClinGen ExAC gnomAD
CA10316969 rs768291509	988	T>S		No	ClinGen ExAC gnomAD
CA412207653 rs1556424892	993	K>*		No	ClinGen Ensembl
CA412207649 rs1233774779	993	K>N		No	ClinGen gnomAD
rs1263071086 CA412207652	993	K>T		No	ClinGen TOPMed
rs768418965 CA10316929	995	A>V		No	ClinGen ExAC TOPMed gnomAD
CA412207632 rs1444726020	996	F>V		No	ClinGen gnomAD
CA10316926 rs559790533	997	D>G		No	ClinGen ExAC TOPMed gnomAD
CA412207616 rs1357164831	998	E>*		No	ClinGen gnomAD
rs1357164831 CA412207618	998	E>K		No	ClinGen gnomAD
rs531325123 CA10316924	999	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA10316923 rs531325123	999	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA412207599 rs1603432512	1000	V>G		No	ClinGen Ensembl
CA412207594 rs757426688	1001	G>A		No	ClinGen ExAC gnomAD
CA10316922 rs757426688	1001	G>E		No	ClinGen ExAC gnomAD
rs753904298 CA10316921	1002	S>C		No	ClinGen ExAC gnomAD
rs761035565 CA412207576	1004	S>I		No	ClinGen ExAC gnomAD
rs761035565 CA10316919	1004	S>N		No	ClinGen ExAC gnomAD
CA10316917 rs767810845	1005	A>T		No	ClinGen ExAC gnomAD
COSM3694145 rs759902083 CA10316916	1005	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA412207567 rs1306451918	1006	E>*		No	ClinGen TOPMed gnomAD
rs1306451918 CA412207568	1006	E>Q		No	ClinGen TOPMed gnomAD
CA412207559 rs1385630461	1007	L>F		No	ClinGen TOPMed
rs965220710 CA325532018	1008	F>L		No	ClinGen TOPMed
rs772770639 CA10316912	1009	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10316911 rs769275880	1009	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1556424789 CA412207542	1010	K>*		No	ClinGen Ensembl
rs747798462 CA10316910	1010	K>R		No	ClinGen ExAC gnomAD
CA412207537 rs1405256482	1011	Q>*		No	ClinGen TOPMed
CA10316909 rs780860668	1011	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA412207523 rs1314884670	1013	H>Y		No	ClinGen gnomAD
rs1556424766 CA412207515	1014	K>*		No	ClinGen Ensembl
CA10316908 rs768359222	1014	K>R		No	ClinGen ExAC TOPMed gnomAD
rs372268920 CA10316907	1016	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420131503 CA412207504	1016	R>W		No	ClinGen gnomAD
rs780146082 CA10316906 COSM1417117	1018	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA412207490 rs780146082	1018	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA412207492 rs1353546985	1018	P>S		No	ClinGen TOPMed
CA10316903 rs778046961	1019	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745787112 CA10316904	1019	P>T		No	ClinGen ExAC
rs752890228 CA10316901	1020	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10316900 rs560106517	1021	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10316899 rs755307934	1022	R>S		No	ClinGen ExAC TOPMed gnomAD
CA412207458 rs1365592422	1024	T>A		No	ClinGen TOPMed
rs548786259 CA10316898	1024	T>S		No	ClinGen ExAC gnomAD
rs763503786 CA10316896	1026	A>V		No	ClinGen ExAC gnomAD
CA412207439 rs1156774952	1027	F>V		No	ClinGen TOPMed
CA325531996 rs894074014	1028	T>A		No	ClinGen TOPMed gnomAD
rs533078751 CA10316893	1028	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA412207427 rs200704106	1029	L>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA412207426 rs200704106	1029	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412207428 rs1342090171	1029	L>V		No	ClinGen gnomAD
CA10316891 rs200704106	1029	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316890 rs746638034	1030	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1569511836 CA412207419	1030	G>V		No	ClinGen Ensembl
rs1403611030 CA412207410	1032	A>S		No	ClinGen gnomAD
rs1055297254 CA325531992	1032	A>V		No	ClinGen TOPMed
CA412207404 rs771969952	1033	H>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10316888 rs771969952	1033	H>R		No	ClinGen ExAC TOPMed gnomAD
rs938212922 CA325531989	1033	H>Y		No	ClinGen gnomAD
rs1603432468 CA412207391	1035	P>L		No	ClinGen Ensembl
rs1603432470 CA412207393	1035	P>S		No	ClinGen Ensembl
rs375210922 CA10316886	1037	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316885 rs370712712	1037	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316887 rs375210922	1037	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA412207374 rs1426153183	1039	P>A		No	ClinGen gnomAD
rs562437814 CA10316884	1039	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412207369 rs1175164598	1040	R>*		No	ClinGen gnomAD
rs949823178 CA325531983	1040	R>P		No	ClinGen Ensembl
CA412207346 rs1488310679	1044	D>N		No	ClinGen TOPMed
rs1211685505 CA412207341	1044	D>V		No	ClinGen gnomAD
rs1487525013 CA412207336	1045	K>*		No	ClinGen gnomAD
rs1487525013 CA412207337	1045	K>E		No	ClinGen gnomAD
rs1569511811 CA412207327	1046	G>D		No	ClinGen Ensembl
rs918225787 CA325531978	1048	S>F		No	ClinGen TOPMed
rs918225787 CA325531980	1048	S>Y		No	ClinGen TOPMed
rs374604193 CA10316879	1049	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1556424566 CA412207289	1050	R>*		No	ClinGen Ensembl
CA325531974 rs6009968	1050	R>K		No	ClinGen Ensembl
CA10316840 rs202156491	1054	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316838 rs752184283	1054	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA325531924 rs199510809	1055	N>H		No	ClinGen gnomAD
rs1169521815 CA412207128	1058	K>*		No	ClinGen TOPMed
rs1169521815 CA412207130	1058	K>Q		No	ClinGen TOPMed
CA412207100 rs146838312	1059	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10316836 rs377050210	1060	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA325531922 rs377050210	1060	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412207074 rs1239195801	1061	K>R		No	ClinGen gnomAD
rs1556424419 CA412207058	1062	K>*		No	ClinGen Ensembl
CA10316835 rs751143644	1062	K>T		No	ClinGen ExAC gnomAD
rs766230373 CA10316834	1063	T>I		No	ClinGen ExAC gnomAD
CA10316833 rs762612150	1064	I>V		No	ClinGen ExAC gnomAD
CA10316831 rs769551466	1065	G>R		No	ClinGen ExAC gnomAD
rs745551529 CA325531913	1066	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1286512146 CA412206996	1066	R>W		No	ClinGen TOPMed gnomAD
rs562476528 CA412206978	1067	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA10316828 rs562476528	1067	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA412206960 rs1399743727	1068	H>R		No	ClinGen TOPMed
rs774394154 CA10316826	1071	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375861754 CA10316825	1071	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1556424370 CA412206914	1072	K>*		No	ClinGen Ensembl
CA325531905 rs949792628	1072	K>N		No	ClinGen Ensembl
rs1317707561 CA412206867	1074	Y>C		No	ClinGen gnomAD
CA412206873 rs1489677378	1074	Y>D		No	ClinGen TOPMed gnomAD
CA412206878 rs1489677378	1074	Y>N		No	ClinGen TOPMed gnomAD
rs193286276 CA10316824	1075	N>H		No	ClinGen 1000Genomes ExAC
rs1406074770 CA412206837	1076	P>A		No	ClinGen gnomAD
CA412206820 rs756747334	1077	P>H		No	ClinGen ExAC gnomAD
rs756747334 CA10316822	1077	P>L		No	ClinGen ExAC gnomAD
CA10316823 rs559847431	1077	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765894013 CA412206790	1078	S>I		No	ClinGen ExAC gnomAD
CA10316815 rs765894013	1078	S>N		No	ClinGen ExAC gnomAD
rs765894013 CA10316816	1078	S>T		No	ClinGen ExAC gnomAD
rs1556424313 CA412206774	1079	W>*		No	ClinGen Ensembl
CA412206776 rs1603432377	1079	W>G		No	ClinGen Ensembl
rs750253285 CA10316813	1081	H>R		No	ClinGen ExAC gnomAD
rs371278125 CA10316811	1082	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316809 rs767613094	1082	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371278125 CA10316810	1082	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs759484260 CA10316808	1084	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs368077071 CA412206680	1085	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368077071 CA10316806	1085	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374067780 CA412206658	1086	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316802 rs374067780	1086	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770257172 CA10316803	1086	P>S		No	ClinGen ExAC gnomAD
CA412206647 rs1401016768	1087	P>L		No	ClinGen gnomAD
rs1556424255 CA412206600	1090	Q>*		No	ClinGen Ensembl
CA10316800 rs754553307	1091	E>D		No	ClinGen ExAC gnomAD
rs1191369275 CA412206533	1092	D>E		No	ClinGen TOPMed gnomAD
CA10316799 rs371576175	1093	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1037153234 CA325531840	1097	S>A		No	ClinGen TOPMed gnomAD
CA10316768 rs200085962	1097	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA325531842 rs1037153234	1097	S>T		No	ClinGen TOPMed gnomAD
CA412205244 rs200085962	1097	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA412205233 rs1420541741	1099	E>*		No	ClinGen TOPMed
rs1235091749 CA412205232	1099	E>A		No	ClinGen TOPMed gnomAD
rs1235091749 CA412205230	1099	E>V		No	ClinGen TOPMed gnomAD
CA10316764 rs371651789	1100	L>V		No	ClinGen ESP ExAC gnomAD
CA412205211 rs1386761298	1102	P>L		No	ClinGen gnomAD
CA10316763 rs771502813	1102	P>T		No	ClinGen ExAC TOPMed gnomAD
rs778540288 CA10316761	1104	T>A		No	ClinGen ExAC gnomAD
rs770637387 CA10316760	1104	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10316757 rs755903616	1106	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755903616 CA10316758	1106	T>S		No	ClinGen ExAC TOPMed gnomAD
CA412205187 rs1187756360	1107	P>A		No	ClinGen gnomAD
COSM1195315 CA10316755 rs368716467	1107	P>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1203430925 CA412205178	1108	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA412205174 rs1485560932	1109	S>L		No	ClinGen gnomAD
rs9617013 CA325531825	1110	A>V		No	ClinGen Ensembl
CA10316753 rs183944303	1113	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs369626870 COSM1593146 CA10316750	1115	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1381325777 CA412205133	1116	R>C		No	ClinGen TOPMed gnomAD
rs761053002 CA10316748	1116	R>H		No	ClinGen ExAC TOPMed gnomAD
rs768000601 CA10316746	1117	M>L		No	ClinGen ExAC TOPMed gnomAD
rs768000601 CA412205129	1117	M>V		No	ClinGen ExAC TOPMed gnomAD
rs868661517 CA325531812	1119	M>I		No	ClinGen Ensembl
CA412205115 rs966500707	1119	M>L		No	ClinGen TOPMed gnomAD
rs371928484 CA10316745	1119	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs966500707 CA325531816	1119	M>V		No	ClinGen TOPMed gnomAD
rs1164628585 CA412205108	1120	S>C		No	ClinGen gnomAD
rs866118370 CA325531809	1123	V>A		No	ClinGen TOPMed gnomAD
CA412205085 rs866118370	1123	V>G		No	ClinGen TOPMed gnomAD
rs1193153809 CA412205087	1123	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1193153809 CA412205089	1123	V>M		No	ClinGen TOPMed gnomAD
rs1556423937 CA412205082	1124	E>*		No	ClinGen Ensembl
rs748976030 CA10316742	1125	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA325531806 rs913738737	1125	R>S		No	ClinGen Ensembl
rs371384320 CA10316740	1126	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs371384320 CA10316741	1126	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1467068641 CA412205061	1127	C>*		No	ClinGen gnomAD
CA412205062 rs1215697742	1127	C>F		No	ClinGen gnomAD
CA412205055 rs1254941920	1128	C>S		No	ClinGen Ensembl
rs747913842 CA10316739	1129	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746920755 CA10316736 COSM3786402	1129	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs746920755 CA10316737	1129	R>L		No	ClinGen ExAC gnomAD
rs746920755 CA10316738	1129	R>P		No	ClinGen ExAC gnomAD
CA412205039 rs1249421180	1131	Y>D		No	ClinGen gnomAD
CA412205033 rs1556423896	1132	Q>*		No	ClinGen Ensembl
CA10316734 rs375823291	1133	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754136581 CA10316733	1133	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753172401 CA10316731	1134	L>F		No	ClinGen ExAC gnomAD
CA10316730 rs753172401	1134	L>V		No	ClinGen ExAC gnomAD
rs1325771731 CA412205014	1135	G>A		No	ClinGen TOPMed gnomAD
CA325531791 rs961615162	1135	G>S		No	ClinGen TOPMed
CA325531787 rs970949573	1137	G>D		No	ClinGen Ensembl
rs765903023 CA10316726	1138	T>P		No	ClinGen ExAC gnomAD
CA10316725 rs762397958	1139	L>P		No	ClinGen ExAC TOPMed gnomAD
rs772746655 CA10316724	1140	S>R		No	ClinGen ExAC gnomAD
CA10316723 rs769560309	1141	S>G		No	ClinGen ExAC gnomAD
CA10316722 rs747747176	1142	S>T		No	ClinGen ExAC gnomAD
CA412204960 rs1248140287	1144	S>R		No	ClinGen TOPMed gnomAD
rs1439492825 CA412204963	1144	S>T		No	ClinGen gnomAD
CA10316720 rs768541253	1145	R>L		No	ClinGen ExAC gnomAD
CA412204956 rs768541253	1145	R>Q		No	ClinGen ExAC gnomAD
rs1322290900 CA412204958	1145	R>W		No	ClinGen TOPMed gnomAD
rs1361033234 CA412204950	1146	A>V		No	ClinGen TOPMed
rs1556423822 CA412204947	1147	K>*		No	ClinGen Ensembl
COSM1616612 CA10316719 rs746975692	1148	S>F	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA412204934 rs1556423814	1149	E>*		No	ClinGen Ensembl
CA412204932 rs1231667508	1149	E>G		No	ClinGen TOPMed gnomAD
CA325531777 rs867055440	1150	P>L		No	ClinGen Ensembl
CA10316718 rs780092958	1150	P>S		No	ClinGen ExAC gnomAD
CA412204918 rs1296079228	1151	F>L		No	ClinGen TOPMed
rs754111011 CA412204915	1152	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs754111011 CA325531775	1152	R>G		No	ClinGen Ensembl
rs749321273 CA10316716	1152	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs551440125 CA10316715	1153	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs756416392 CA10316714	1155	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10316711 rs755293127	1156	V>I		No	ClinGen ExAC gnomAD
CA412204880 rs1394481958	1158	R>C		No	ClinGen TOPMed gnomAD
rs1159284251 CA412204879	1158	R>H		No	ClinGen gnomAD
CA10316708 rs539277029	1159	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750011402 COSM1751946 CA10316707	1161	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1485854998 CA412204843	1163	C>F		No	ClinGen gnomAD
CA10316705 rs761567683	1164	R>C		No	ClinGen ExAC TOPMed gnomAD
rs568731072 CA10316704	1164	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1286105195 CA412204831	1165	S>I		No	ClinGen gnomAD
rs1275649418 CA412204800	1168	G>A		No	ClinGen gnomAD
CA412204803 rs1469283832	1168	G>R		No	ClinGen gnomAD
rs13056317 CA10316671	1171	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412204774 rs1358543854	1172	V>M		No	ClinGen TOPMed gnomAD
rs1269661338 CA412204750	1173	P>L		No	ClinGen gnomAD
rs1360219984 CA412204753	1173	P>S		No	ClinGen gnomAD
rs753463350 CA10316668	1177	Q>E		No	ClinGen ExAC gnomAD
CA412204642 rs1287872930	1179	N>D		No	ClinGen TOPMed
CA10316667 rs763681330	1179	N>S		No	ClinGen ExAC gnomAD
CA412204627 rs1354830380	1180	A>T		No	ClinGen gnomAD
rs752362315 CA10316665	1180	A>V		No	ClinGen ExAC gnomAD
CA412204601 rs1418408443	1182	Q>*		No	ClinGen gnomAD
CA412204599 rs1243641180	1182	Q>R		No	ClinGen gnomAD
CA325531662 rs971505078	1183	R>C		No	ClinGen TOPMed gnomAD
rs774358027 CA10316663	1183	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10316662 rs774358027	1183	R>L		No	ClinGen ExAC TOPMed gnomAD
CA325531650 rs962590087	1186	R>C		No	ClinGen gnomAD
CA412204548 rs962590087	1186	R>G		No	ClinGen gnomAD
rs776742420 CA10316659 COSM1484339	1186	R>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1235327650 CA412204511	1188	Y>C		No	ClinGen gnomAD
CA10316657 rs747262613	1189	R>H		No	ClinGen ExAC gnomAD
CA10316656 rs775645354	1190	Q>R		No	ClinGen ExAC gnomAD
CA10316654 rs746155908	1192	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746155908 CA412204429	1192	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779333419 CA10316653	1193	F>I		No	ClinGen ExAC gnomAD
rs757760694 CA10316652	1193	F>L		No	ClinGen ExAC gnomAD
CA412204394 rs1313061381	1194	P>L		No	ClinGen gnomAD
rs1392653408 CA412204388	1195	V>M		No	ClinGen gnomAD
rs1433102696 CA412204371	1196	V>A		No	ClinGen gnomAD
CA412204317 rs1179288792	1198	W>*		No	ClinGen gnomAD
rs371049751 CA10316648	1199	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs767017894 CA10316647	1199	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412204260 rs1278263400	1201	G>A		No	ClinGen gnomAD
rs751370480 CA10316645	1201	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10316644 rs762918599	1202	R>L		No	ClinGen ExAC gnomAD
CA10316643 rs762918599	1202	R>Q		No	ClinGen ExAC gnomAD
CA412204252 rs1232684184	1202	R>W		No	ClinGen gnomAD
rs866025886 CA325531623	1204	K>R		No	ClinGen Ensembl
rs773094340 CA10316642	1205	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775696633 CA10316639	1206	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775696633 CA10316640	1206	V>M		No	ClinGen ExAC TOPMed gnomAD
CA412204106 rs1313268338	1208	L>P		No	ClinGen gnomAD
rs772252718 CA10316638	1209	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746086795 CA10316637	1212	G>S		No	ClinGen ExAC TOPMed gnomAD
CA412204049 rs1251851295	1213	L>P		No	ClinGen TOPMed
CA412204040 rs1417856214	1214	H>Y		No	ClinGen gnomAD
rs1556423263 CA412203993	1216	K>*		No	ClinGen Ensembl
CA412203989 rs1411682771	1216	K>R		No	ClinGen gnomAD
CA412203969 rs1160855771	1217	G>D		No	ClinGen gnomAD
CA10316633 rs770539212	1219	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1164170194 CA412203906	1220	G>D		No	ClinGen TOPMed
rs1486209438 CA412203912	1220	G>S		No	ClinGen gnomAD
CA10316631 rs747593207	1221	L>P		No	ClinGen ExAC gnomAD
CA412203879 rs1603432115	1222	F>L		No	ClinGen Ensembl
rs1556423216 CA412203838	1223	K>*		No	ClinGen Ensembl
rs1556423205 CA412203793	1225	Q>*		No	ClinGen Ensembl
CA412203756 rs1453439313	1226	N>S		No	ClinGen gnomAD
rs200852838 CA412203741	1227	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316626 rs200852838	1227	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316625 rs372402880	1227	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA412203693 rs1363364672	1230	P>S		No	ClinGen TOPMed gnomAD
rs1342077519 CA412203583	1231	G>D		No	ClinGen TOPMed
CA10316601 rs766641482	1232	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA412203544 rs1227235340	1233	S>Y		No	ClinGen gnomAD
rs1292351313 CA412203518	1234	Q>H		No	ClinGen TOPMed
CA10316600 rs763261910	1235	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770253063 CA10316598	1237	S>L		No	ClinGen ExAC gnomAD
CA10316596 rs777147291	1239	S>G		No	ClinGen ExAC gnomAD
CA10316595 rs768066529	1239	S>I		No	ClinGen ExAC gnomAD
CA325531601 rs768066529	1239	S>N		No	ClinGen ExAC gnomAD
CA412203404 rs1201530623	1240	L>V		No	ClinGen TOPMed
rs1306357384 CA412203379	1241	E>G		No	ClinGen gnomAD
CA10316593 rs540943450	1243	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325531600 rs1008534542	1244	K>E		No	ClinGen TOPMed
CA412203340 rs1377038291	1244	K>N		No	ClinGen gnomAD
rs771772128 CA412203343	1244	K>R		No	ClinGen ExAC TOPMed gnomAD
CA10316591 rs771772128	1244	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1372583982 CA412203304	1247	Q>L		No	ClinGen TOPMed
rs778716220 CA10316588	1248	A>V		No	ClinGen ExAC gnomAD
CA10316586 rs749201163	1250	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1281830772 CA412203240	1251	S>N		No	ClinGen gnomAD
CA10316584 rs573420750	1253	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA10316585 rs777704310	1253	M>V		No	ClinGen ExAC gnomAD
CA412203165 rs1240420679	1254	P>L		No	ClinGen gnomAD
CA412203166 rs1240420679	1254	P>R		No	ClinGen gnomAD
rs1274737229 CA412203170	1254	P>S		No	ClinGen gnomAD
RCV000506331 CA10316582 RCV001644571 rs200180227	1255	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10316581 rs557741633	1255	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412203111 rs1412790291	1256	Y>C		No	ClinGen gnomAD
CA10316580 rs750636374	1256	Y>H		No	ClinGen ExAC TOPMed gnomAD
RCV000483755 rs374895065 CA10316578	1257	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10316577 rs777013142	1257	A>V		No	ClinGen ExAC gnomAD
CA412203069 rs1233277012	1258	D>G		No	ClinGen TOPMed
rs368062270 CA10316575	1258	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1616610 CA10316572 rs745548589	1259	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770642143 CA10316570	1260	S>L		No	ClinGen ExAC TOPMed gnomAD
CA412202999 rs1556422921	1261	G>*		No	ClinGen Ensembl
rs1261243311 CA412202988	1261	G>E		No	ClinGen TOPMed
rs201356044 CA10316566 COSM1287762	1262	R>C	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1417109 CA10316565 rs780313800	1262	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1446106914 CA412202944	1263	N>K		No	ClinGen gnomAD
rs750687645 CA10316563	1263	N>S		No	ClinGen ExAC TOPMed gnomAD
CA412202928 COSM3694143 rs1339877415	1264	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs757419225 CA10316561	1266	S>G		No	ClinGen ExAC gnomAD
CA325531592 rs917221767	1266	S>I		No	ClinGen TOPMed
rs1461734806 CA412202873	1267	G>D		No	ClinGen gnomAD
CA325531591 rs201774449	1267	G>S		No	ClinGen ESP TOPMed gnomAD
rs922220629 CA325531590	1269	S>P		No	ClinGen Ensembl
rs1569511344 CA412202831	1270	S>A		No	ClinGen Ensembl
CA412202801 rs1175956517	1271	A>G		No	ClinGen gnomAD
CA412202806 rs200910134	1271	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200910134 CA10316555	1271	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758983994 CA10316554	1272	H>P		No	ClinGen ExAC TOPMed gnomAD
CA10316553 rs773993710	1273	M>V		No	ClinGen ExAC TOPMed gnomAD
CA412202675 rs762500203	1276	H>Q		No	ClinGen ExAC gnomAD
CA10316550 rs773106303	1277	G>S		No	ClinGen ExAC TOPMed gnomAD
CA412200880 rs1406229686	1277	G>V		No	ClinGen TOPMed
rs1556421352 CA412200865	1278	K>*		No	ClinGen Ensembl
CA412200862 rs1389056354	1278	K>R		No	ClinGen TOPMed gnomAD
rs1556421339 CA412200837	1279	W>*		No	ClinGen Ensembl
CA412200850 rs1556421342	1279	W>*		No	ClinGen Ensembl
CA412200855 rs1293104282	1279	W>R		No	ClinGen TOPMed gnomAD
CA412200806 rs1372481401	1281	S>N		No	ClinGen gnomAD
CA412200794 rs1166856162	1282	V>I		No	ClinGen gnomAD
COSM1190497 CA10316471 rs778601233	1283	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA412200749 rs1315481481	1285	S>G		No	ClinGen TOPMed
CA412200744 rs1431173921	1285	S>N		No	ClinGen gnomAD
CA412200724 rs769883207	1286	G>*		No	ClinGen TOPMed
rs769883207 CA325529066	1286	G>R		No	ClinGen TOPMed
CA10316470 rs567286954	1287	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483863114 CA412200707	1287	R>H		No	ClinGen TOPMed gnomAD
rs186826803 CA10316468	1288	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs200718883 CA325529057	1289	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10316466 rs752489566	1291	L>I		No	ClinGen ExAC TOPMed gnomAD
CA412200608 rs1268954412	1291	L>R		No	ClinGen gnomAD
rs767321488 CA10316465	1293	T>A		No	ClinGen ExAC gnomAD
CA10316464 rs759430719	1293	T>I		No	ClinGen ExAC gnomAD
CA10316462 rs551118949	1294	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10316461 rs761814921	1294	D>V		No	ClinGen ExAC TOPMed gnomAD
rs776689151 CA10316460	1295	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10316459 rs768926324	1296	G>A		No	ClinGen ExAC gnomAD
rs775760879 CA10316457	1297	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10316455 RCV000756613 rs746388522	1298	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs562435922 CA10316456	1298	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10316454 rs779507723	1301	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1280133443 CA412200404	1301	G>V		No	ClinGen gnomAD
CA412200401 rs1343568907	1302	R>G		No	ClinGen gnomAD
rs770565683 CA10316453	1302	R>K		No	ClinGen ExAC gnomAD
rs375822676 CA10316451	1303	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA412200378 rs1229443133	1303	D>G		No	ClinGen gnomAD
rs372950672 CA10316449	1304	A>T		No	ClinGen ESP TOPMed gnomAD
rs755768063 CA10316448	1304	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs531715037 CA10316445	1305	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs751510493 CA10316444	1306	A>P		No	ClinGen ExAC gnomAD
rs1401457622 CA412200340	1306	A>V		No	ClinGen TOPMed gnomAD
CA10316442 rs762865202	1307	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs766371721 CA10316443	1307	P>T		No	ClinGen ExAC
rs764205750 CA10316440	1308	P>S		No	ClinGen ExAC
CA412200298 rs1184847576	1310	A>S		No	ClinGen gnomAD
CA10316437 rs759875241	1311	N>K		No	ClinGen ExAC TOPMed gnomAD
CA10316438 rs775736052 RCV001857273 RCV000508562	1311	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA412200280 rs1209932612	1312	G>R		No	ClinGen TOPMed gnomAD
CA412200258 rs1331586650	1313	G>A		No	ClinGen gnomAD
rs1603431417 CA412200252	1314	P>A		No	ClinGen Ensembl
rs1227998379 CA412200246	1314	P>L		No	ClinGen gnomAD
CA412200234 rs1242646985	1315	P>L		No	ClinGen gnomAD
rs771620522 CA10316434	1315	P>S		No	ClinGen ExAC TOPMed gnomAD
rs572413624 CA325529004	1316	D>E		No	ClinGen 1000Genomes
CA10316432 rs777463683	1316	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769305063 CA10316431	1317	P>L		No	ClinGen ExAC TOPMed gnomAD
CA325528999 rs945481633	1318	G>R		No	ClinGen TOPMed gnomAD
rs945481633 CA412200209	1318	G>S		No	ClinGen TOPMed gnomAD
CA10316428 rs754583466	1321	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758581593 CA10316426	1321	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758581593 CA10316427	1321	R>L		No	ClinGen ExAC TOPMed gnomAD
CA325528981 rs750323488	1322	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10316424 rs750323488	1322	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs758373154 CA10316425	1322	P>T		No	ClinGen ExAC TOPMed gnomAD
CA412200183 rs1556421162	1323	Q>*		No	ClinGen Ensembl
CA10316421 rs752869887	1324	R>*		No	ClinGen ExAC TOPMed gnomAD
rs752869887 CA412200177	1324	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767843492 CA10316420	1324	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA412200173 rs1226833411	1325	A>P		No	ClinGen gnomAD
rs1048835538 CA325528963	1326	A>T		No	ClinGen TOPMed gnomAD
CA10316419 rs545615709	1326	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10316417 rs763585123	1327	L>F		No	ClinGen ExAC gnomAD
rs1450913371 CA412200162	1327	L>P		No	ClinGen TOPMed
CA10316416 rs763585123	1327	L>V		No	ClinGen ExAC gnomAD
rs373208315 CA10316413	1328	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373208315 CA10316414	1328	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA412200153 rs1351430995	1329	I>F		No	ClinGen TOPMed gnomAD
CA412200152 rs1351430995	1329	I>L		No	ClinGen TOPMed gnomAD
CA412200144 rs1321110819	1330	L>F		No	ClinGen TOPMed gnomAD
rs1321110819 CA412200145	1330	L>V		No	ClinGen TOPMed gnomAD
CA412200136 rs1404465321	1331	G>E		No	ClinGen gnomAD
rs775991995 CA10316412	1334	A>D		No	ClinGen ExAC gnomAD
rs1169986694 CA412200104	1334	A>T		No	ClinGen gnomAD
rs1556421118 CA412200084	1335	Q>*		No	ClinGen Ensembl
CA325528932 rs970898613	1336	L>F		No	ClinGen TOPMed gnomAD
rs970898613 CA325528934	1336	L>V		No	ClinGen TOPMed gnomAD
CA412200059 rs1556421110	1337	K>*		No	ClinGen Ensembl
CA412200056 rs1282601858	1337	K>R		No	ClinGen gnomAD
CA412199881 rs751843428	1338	G>A		No	ClinGen ExAC TOPMed gnomAD
rs751843428 CA10316379	1338	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1012773905 CA325528803	1338	G>S		No	ClinGen TOPMed
rs1471764898 CA412199850	1340	R>Q		No	ClinGen TOPMed gnomAD
CA412199809 rs369760794	1342	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484293381 CA412199764	1344	L>P		No	ClinGen gnomAD
rs1182555765 CA412199769	1344	L>V		No	ClinGen TOPMed gnomAD
rs1556421002 CA412199740	1345	Q>*		No	ClinGen Ensembl
CA412199721 rs1556420994	1346	Q>*		No	ClinGen Ensembl
CA412199679 rs1556420993	1347	W>*		No	ClinGen Ensembl
rs1556420991 CA412199672	1347	W>*		No	ClinGen Ensembl
CA412199646 rs1556420988	1348	E>*		No	ClinGen Ensembl
rs1603431372 CA412199567	1350	V>G		No	ClinGen Ensembl
CA10316375 rs765488708	1351	P>S		No	ClinGen ExAC gnomAD
CA10316372 rs376598966	1352	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10316373 rs754252298	1352	I>V		No	ClinGen ExAC gnomAD
CA412199506 rs1397146494	1353	E>K		No	ClinGen TOPMed
CA412199488 rs1393019248	1354	V>I		No	ClinGen TOPMed
rs760115907 CA10316371 CA412199435	1355	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA412199467 rs1389839988	1355	F>L		No	ClinGen gnomAD
CA412199432 rs1556420951	1356	E>*		No	ClinGen Ensembl
rs1363394736 CA412199424	1357	A>S		No	ClinGen gnomAD
rs368126124 CA10316370	1357	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1243439376 CA412199420	1358	R>W		No	ClinGen TOPMed
rs1556420933 CA412199391	1359	Q>*		No	ClinGen Ensembl
rs199724727 CA10316368	1360	V>G		No	ClinGen ExAC gnomAD
rs1182904800 CA412199352	1360	V>L		No	ClinGen gnomAD
rs1556420921 CA412199319	1361	K>*		No	ClinGen Ensembl
CA412199271 rs774239461	1362	A>G		No	ClinGen ExAC TOPMed gnomAD
rs774239461 CA10316367	1362	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1445659586 CA412199265	1363	S>G		No	ClinGen TOPMed gnomAD
rs1387447166 CA412199176	1365	K>*		No	ClinGen gnomAD
rs1387447166 CA412199180	1365	K>E		No	ClinGen gnomAD
CA412199169 rs1223338912	1365	K>R		No	ClinGen gnomAD
CA412199141 rs1556420909	1366	K>*		No	ClinGen Ensembl
rs1556420908 CA412199052	1369	K>*		No	ClinGen Ensembl
rs777794511 CA10316364	1370	A>V		No	ClinGen ExAC gnomAD
CA412198969 rs1556420902	1371	C>*		No	ClinGen Ensembl
CA10316361 rs566181734	1372	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747153384 CA10316362	1372	V>I		No	ClinGen ExAC gnomAD
rs779359838 CA10316358	1373	P>L		No	ClinGen ExAC gnomAD
rs750573543 CA10316359	1373	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10316357 rs757509015	1374	G>A		No	ClinGen ExAC gnomAD
CA412198836 rs537717966	1375	C>*		No	ClinGen ExAC TOPMed gnomAD
CA10316356 rs368452573	1375	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412198793 rs1449973819	1377	A>D		No	ClinGen gnomAD
rs374287730 CA10316353	1377	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316352 rs539236939	1378	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA412198745 rs918075865	1379	E>*		No	ClinGen TOPMed gnomAD
rs918075865 CA325528743	1379	E>Q		No	ClinGen TOPMed gnomAD
rs759260765 CA10316351	1381	S>G		No	ClinGen ExAC gnomAD
rs759260765 CA412198698	1381	S>R		No	ClinGen ExAC gnomAD
CA325528739 rs773823809	1381	S>R		No	ClinGen ExAC TOPMed gnomAD
rs762587682 CA10316349	1382	P>A		No	ClinGen ExAC gnomAD
CA412198636 rs1395040869	1382	P>L		No	ClinGen TOPMed
CA10316348 rs762587682	1382	P>S		No	ClinGen ExAC gnomAD
rs1479691263 CA412198611	1384	S>P		No	ClinGen gnomAD
rs773136001 CA10316347	1385	F>S		No	ClinGen ExAC gnomAD
CA10316345 rs748067381	1387	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1326204153 CA412198531	1387	R>H		No	ClinGen gnomAD
rs1326204153 CA412198534	1387	R>P		No	ClinGen gnomAD
rs182138894 CA10316344	1389	L>M		No	ClinGen 1000Genomes ExAC gnomAD
RCV000523773 rs182138894 CA412198509	1389	L>V		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA412198492 rs1556420844	1390	E>*		No	ClinGen Ensembl
CA412198450 rs1359953141	1391	D>N		No	ClinGen gnomAD
CA412198413 rs1556420838	1393	E>*		No	ClinGen Ensembl
CA412198301 rs757499476	1396	I>M		No	ClinGen ExAC TOPMed gnomAD
rs778939085 CA10316341	1396	I>V		No	ClinGen ExAC gnomAD
rs1556420830 CA412198292	1397	Q>*		No	ClinGen Ensembl
CA412196732 rs370634606	1398	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405064373 CA412196721	1399	H>Y		No	ClinGen gnomAD
CA412196691 rs1556420504	1400	K>*		No	ClinGen Ensembl
CA412196687 rs1321033925	1400	K>R		No	ClinGen gnomAD
CA10316315 rs755504156	1401	L>R		No	ClinGen ExAC
rs1556420495 CA412196643	1403	Q>*		No	ClinGen Ensembl
CA412196630 rs1405296555	1403	Q>H		No	ClinGen gnomAD
CA412196603 rs1157658612	1405	S>F		No	ClinGen gnomAD
CA412196592 rs1472808905 CA412196589	1406	V>L		No	ClinGen gnomAD
rs867391386 CA325528372	1408	V>L		No	ClinGen Ensembl
CA10316314 rs751088138	1409	V>E		No	ClinGen ExAC gnomAD
CA412196494 rs1556420479	1410	E>*		No	ClinGen Ensembl
CA325528368 rs895858604	1412	L>P		No	ClinGen TOPMed
rs377649804 CA10316312	1413	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374007356 CA10316311	1416	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs899218856 CA325528358	1418	V>M		No	ClinGen TOPMed
rs1381996361 CA412196315	1420	V>M		No	ClinGen gnomAD
rs761636318 CA10316309	1423	E>K		No	ClinGen ExAC gnomAD
CA10316307 rs369972811	1425	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770818849 CA10316306	1426	W>S		No	ClinGen ExAC TOPMed gnomAD
rs774330539 CA10316305	1427	D>E		No	ClinGen ExAC gnomAD
rs1569510381 CA412196071	1430	T>I		No	ClinGen Ensembl
rs772700038 CA10316277	1432	V>G		No	ClinGen ExAC gnomAD
CA412195954 rs745426021	1433	V>A		No	ClinGen ExAC TOPMed gnomAD
CA10316276 rs745426021	1433	V>G		No	ClinGen ExAC TOPMed gnomAD
CA10316275 rs778541569	1435	L>F		No	ClinGen ExAC
rs546778591 CA325528267	1438	L>P		No	ClinGen Ensembl
rs1299584418 CA412195905	1438	L>V		No	ClinGen TOPMed
CA412195896 rs1309369428	1439	L>V		No	ClinGen TOPMed gnomAD
CA412195878 rs1239996451	1440	S>L		No	ClinGen TOPMed
rs753485438 CA10316273	1442	P>T		No	ClinGen ExAC gnomAD
CA412195841 rs1431910520	1444	Y>C		No	ClinGen TOPMed gnomAD
CA10316272 rs375612402	1444	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1034776517 CA325528246	1445	R>H		No	ClinGen TOPMed gnomAD
CA10316270 rs201077213	1446	T>M		No	ClinGen ExAC gnomAD
rs1603431216 CA412195832	1446	T>P		No	ClinGen Ensembl
CA412195825 rs1603431213	1447	L>R		No	ClinGen Ensembl
CA412195826 rs1479719064	1447	L>V		No	ClinGen gnomAD
CA412195821 rs759457931	1448	E>*		No	ClinGen ExAC gnomAD
rs750551763 CA10316267	1448	E>D		No	ClinGen ExAC TOPMed gnomAD
CA10316268 rs759457931	1448	E>Q		No	ClinGen ExAC gnomAD
CA10316266 rs148111223	1451	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10316265 rs148111223	1451	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776854781 CA10316264	1451	R>H		No	ClinGen ExAC gnomAD
CA412195786 rs1569510323	1454	V>A		No	ClinGen Ensembl
CA412195788 rs775701760	1454	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10316261 rs775701760	1454	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1556420353 CA412195783	1455	E>*		No	ClinGen Ensembl
CA325528222 rs1049316944	1456	K>E		No	ClinGen Ensembl
rs367840339 CA10316260	1456	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1556420343 CA412195754	1458	W>*		No	ClinGen Ensembl
rs1556420344 CA412195758	1458	W>*		No	ClinGen Ensembl
rs574710935 CA325528217	1460	S>A		No	ClinGen 1000Genomes
rs1371998490 CA412195744	1460	S>F		No	ClinGen TOPMed gnomAD
rs1327484324 CA412195733	1462	G>S		No	ClinGen gnomAD
rs1569510303 CA412195728 RCV000757734	1463	H>Y		No	ClinGen ClinVar Ensembl dbSNP
CA10316256 rs748910673	1464	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10316254 rs373554487	1468	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA412195690 rs1161587169	1468	R>H		No	ClinGen gnomAD
rs1556420327 CA412195685	1469	G>*		No	ClinGen Ensembl
CA10316252 rs780944892	1470	A>V		No	ClinGen ExAC gnomAD
CA10316251 rs370680237	1471	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316250 rs751459252	1472	T>A		No	ClinGen ExAC gnomAD
rs1241002384 CA412195665	1472	T>I		No	ClinGen gnomAD
CA10316247 RCV000997950 rs753856952	1473	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1262063765 CA412195655	1474	A>V		No	ClinGen TOPMed gnomAD
CA10316242 rs760137821	1475	G>A		No	ClinGen ExAC gnomAD
CA10316243 rs760137821	1475	G>E		No	ClinGen ExAC gnomAD
rs776035145 CA10316244	1475	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1556420305 CA412195649	1476	Q>*		No	ClinGen Ensembl
rs774945434 CA10316241	1477	S>N		No	ClinGen ExAC gnomAD
CA10316239 rs748897740	1479	G>S		No	ClinGen ExAC TOPMed gnomAD
CA412195621 rs1322288085	1480	F>V		No	ClinGen TOPMed
rs1603431199 CA412195615	1481	T>P		No	ClinGen Ensembl
CA325528187 rs900390283	1482	P>S		No	ClinGen TOPMed gnomAD
CA10316235 rs371044439	1483	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs1344660340 CA412195595	1484	F>C		No	ClinGen gnomAD
rs1451966500 CA412195599	1484	F>L		No	ClinGen gnomAD
CA412195557 CA325528176 rs376706601	1487	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412195531 rs1449777155	1490	C>G		No	ClinGen gnomAD
rs758253450 CA10316229	1491	V>I		No	ClinGen ExAC gnomAD
rs535304513 CA10316228	1492	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1556420256 CA412195498	1493	Q>*		No	ClinGen Ensembl
CA412195441 rs1398496954	1495	H>N		No	ClinGen TOPMed gnomAD
CA412195434 rs1296408791	1495	H>R		No	ClinGen gnomAD
CA412195438 rs1398496954	1495	H>Y		No	ClinGen TOPMed gnomAD
rs1279913504 CA412195425	1496	L>P		No	ClinGen TOPMed
CA412195417 rs1569510196	1497	Q>*		No	ClinGen Ensembl
CA325528104 rs372797638	1499	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316201 rs372797638	1499	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316200 rs761379405	1500	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1556420180 CA412195375	1501	E>*		No	ClinGen Ensembl
rs997328600 CA325528099	1502	F>I		No	ClinGen TOPMed
CA412195349 rs1556420176	1503	E>*		No	ClinGen Ensembl
rs776103483 CA10316199	1505	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1556420169 CA412195316	1506	Q>*		No	ClinGen Ensembl
CA412195315 rs1019524339 RCV000997949	1506	Q>P		No	ClinGen ClinVar Ensembl dbSNP
CA325528096 rs1019524339	1506	Q>R		No	ClinGen Ensembl
rs539944990 CA325528092	1508	Y>H		No	ClinGen 1000Genomes gnomAD
rs760287569 CA10316197	1509	L>F		No	ClinGen ExAC
rs775384257 CA10316196	1509	L>P		No	ClinGen ExAC gnomAD
rs1556420150 CA412194622	1510	K>*		No	ClinGen Ensembl
CA10316191 rs374392861	1514	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA412194538 rs1603431170	1514	Y>S		No	ClinGen Ensembl
CA412194499 rs1603431169	1515	H>P		No	ClinGen Ensembl
rs755292355 CA10316189	1516	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1603431168 CA412194399	1517	V>M		No	ClinGen Ensembl
rs991554613 CA325528083	1518	S>P		No	ClinGen Ensembl
rs751794256 CA10316188	1519	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780490504 CA10316187	1519	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758633587 CA10316186	1520	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750794912 CA10316185	1520	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10316182 RCV000585484 rs753384436	1522	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA412194266 rs1470847597	1523	T>A		No	ClinGen gnomAD
rs868036929 CA325528072	1525	L>V		No	ClinGen Ensembl
CA412194167 rs1180281153	1526	L>V		No	ClinGen gnomAD
CA412194144 rs1244104609	1527	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201642869 CA325528067	1528	S>F		No	ClinGen Ensembl
rs199620886 CA325528069	1528	S>P		No	ClinGen Ensembl
rs199620886 CA412194118	1528	S>T		No	ClinGen Ensembl
rs1346719775 CA412194068	1529	D>E		No	ClinGen TOPMed
CA325528064 rs377416075	1530	Y>H		No	ClinGen ESP
rs1556420083 CA412194045	1531	E>*		No	ClinGen Ensembl
CA412194044 rs1460282848	1531	E>G		No	ClinGen gnomAD
CA10316178 rs767346084	1532	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10316177 rs759318705	1532	R>H		No	ClinGen ExAC gnomAD
CA10316176 rs771043807	1533	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1556420065 CA412193940	1534	E>*		No	ClinGen Ensembl
CA412193891 rs749208355	1535	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1556420015 CA412193688	1540	E>*		No	ClinGen Ensembl
rs1556420012 CA412193671	1541	E>*		No	ClinGen Ensembl
CA10316156 rs531165508	1541	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531165508 CA325528028	1541	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412193640 rs1556419998	1542	K>*		No	ClinGen Ensembl
CA412193598 rs1239035259	1543	G>E		No	ClinGen TOPMed
CA412193617 rs1413480607	1543	G>R		No	ClinGen gnomAD
CA325528025 rs375660466	1545	R>C		No	ClinGen ESP TOPMed gnomAD
rs747116103 CA10316153	1545	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1136891 CA412193538 rs1371487529	1546	R>K	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10316152 rs775617395	1546	R>S		No	ClinGen ExAC gnomAD
rs772222089 CA10316151	1547	G>C		No	ClinGen ExAC gnomAD
CA10316149 rs779268571	1548	Q>*		No	ClinGen ExAC gnomAD
CA10316148 rs757557527	1549	V>A		No	ClinGen ExAC TOPMed gnomAD
CA412193464 rs1451015102	1549	V>M		No	ClinGen gnomAD
CA10316147 rs199779197 COSM1287764	1550	P>L	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA325528017 rs199779197	1550	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10316145 rs756603624	1551	C>W		No	ClinGen ExAC gnomAD
rs200699957 CA10316144	1552	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300784737 CA412193400	1552	R>K		No	ClinGen gnomAD
rs760744805 CA325528010	1552	R>S		No	ClinGen Ensembl
rs780725556 CA10316143	1553	S>C		No	ClinGen ExAC TOPMed gnomAD
rs780725556 CA412193363	1553	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA412193354 rs1349773838 CA412193349	1554	V>L		No	ClinGen TOPMed gnomAD
CA412193320 rs1556419960	1555	W>*		No	ClinGen Ensembl
CA412193304 rs754620551	1555	W>*		No	ClinGen ExAC gnomAD
CA10316142 rs754620551	1555	W>C		No	ClinGen ExAC gnomAD
rs1556419955 CA412193295	1556	E>*		No	ClinGen Ensembl
CA10316141 rs751177525	1557	Y>H		No	ClinGen ExAC gnomAD
rs1431514631 CA412193176	1560	R>Q		No	ClinGen gnomAD
rs201583622 CA10316138	1560	R>W		No	ClinGen ExAC TOPMed gnomAD
CA412193148 rs1197304284	1562	S>N		No	ClinGen gnomAD
CA412193135 rs199795851	1563	K>*		No	ClinGen ExAC gnomAD
rs199795851 CA10316137	1563	K>E		No	ClinGen ExAC gnomAD
CA325528002 rs1017814454	1563	K>R		No	ClinGen TOPMed
CA325527999 rs371896005	1565	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA325527994 rs903738376	1566	P>S		No	ClinGen TOPMed
rs1020594214 CA412193069	1567	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1020594214 CA325527992	1567	V>M		No	ClinGen TOPMed gnomAD
rs1213487805 CA412193042	1568	F>L		No	ClinGen TOPMed
rs370152277 CA325527990	1569	H>Q		No	ClinGen ESP TOPMed gnomAD
rs1569510041 CA412193021	1570	N>D		No	ClinGen Ensembl
CA10316136 rs575037791	1570	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325527987 rs761490725	1571	Y>H		No	ClinGen Ensembl
rs1218064856 CA412192970	1572	M>I		No	ClinGen gnomAD
CA10316135 rs772138881	1572	M>T		No	ClinGen ExAC gnomAD
rs1196957602 CA412192980	1572	M>V		No	ClinGen TOPMed
rs774485881 CA10316133	1574	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10316131 rs749714253	1575	P>S		No	ClinGen ExAC TOPMed gnomAD
CA412192909 rs770245860	1576	E>*		No	ClinGen ExAC gnomAD
CA10316129 rs770245860	1576	E>K		No	ClinGen ExAC gnomAD
CA10316128 rs748652137	1577	D>G		No	ClinGen ExAC TOPMed gnomAD
CA412192880 rs748652137	1577	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1408522311 CA412192888	1577	D>Y		No	ClinGen gnomAD
CA10316126 rs754454392	1578	A>T		No	ClinGen ExAC TOPMed gnomAD
CA412192852 rs1556419883	1579	E>*		No	ClinGen Ensembl
CA10316102 rs753568986	1582	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10316103 rs757006253	1582	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10316101 rs764148193	1583	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1603431098 CA412192697	1585	S>I		No	ClinGen Ensembl
rs929323524 CA325527922	1586	N>S		No	ClinGen TOPMed gnomAD
CA412192651 rs1299337224	1588	S>P		No	ClinGen TOPMed
rs765525431 CA412192617	1589	N>K		No	ClinGen ExAC TOPMed gnomAD
rs773366726 CA10316096	1589	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA412192597 rs1556419804	1591	K>*		No	ClinGen Ensembl
rs776847837 CA10316093	1591	K>R		No	ClinGen ExAC gnomAD
rs769243856 CA10316092	1592	V>M		No	ClinGen ExAC gnomAD
CA412192519 rs1556419791	1593	W>*		No	ClinGen Ensembl
CA412192544 rs1556419796	1593	W>*		No	ClinGen Ensembl
rs534928237 CA10316091	1594	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA325527917 CA412192491 rs956315341	1594	D>E		No	ClinGen TOPMed gnomAD
rs1265252405 CA412192469	1595	F>L		No	ClinGen gnomAD
CA10316090 rs775162013	1597	T>A		No	ClinGen ExAC TOPMed gnomAD
CA412192416 rs771649010	1598	E>*		No	ClinGen ExAC gnomAD
CA10316088 rs745515542	1598	E>G		No	ClinGen ExAC gnomAD
rs771649010 CA10316089	1598	E>K		No	ClinGen ExAC gnomAD
CA412192396 rs1556419776	1599	E>*		No	ClinGen Ensembl
rs756843805 CA10316087	1600	T>M	Variant assessed as Somatic; 0.0002066 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756843805 CA10316086	1600	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1308464404 CA412192354	1601	L>P		No	ClinGen gnomAD
rs1297984632 CA412192331	1602	A>G		No	ClinGen TOPMed gnomAD
CA412192340 rs1569509970	1602	A>S		No	ClinGen Ensembl
rs377302977 CA412192318	1603	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1303890992 CA412192312	1603	E>G		No	ClinGen gnomAD
CA412192272 rs1406871856	1604	G>D		No	ClinGen gnomAD
CA412192264 rs1406871856	1604	G>V		No	ClinGen gnomAD
rs1292873154 CA412192223	1606	P>L		No	ClinGen gnomAD
rs1184598152 CA412192213	1607	Y>H		No	ClinGen TOPMed
CA412192169 rs1260740476	1609	W>*		No	ClinGen TOPMed
rs1556419745 CA412192158	1609	W>*		No	ClinGen Ensembl
CA325527902 rs968860109	1611	L>V		No	ClinGen TOPMed
CA10316079 rs758406494	1615	P>L		No	ClinGen ExAC gnomAD
CA412192035 rs1167871952	1615	P>S		No	ClinGen TOPMed gnomAD
CA10316075 rs777083733	1618	P>H		No	ClinGen ExAC TOPMed gnomAD
rs777083733 CA10316076	1618	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA325527898 rs202049257	1618	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs558233476 CA10316074	1619	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412191933 rs1481163594	1619	P>L		No	ClinGen gnomAD
rs761276667 CA10316073	1621	E>K		No	ClinGen ExAC gnomAD
rs894795215 CA412191778	1623	R>L		No	ClinGen gnomAD
CA325527892 rs894795215	1623	R>Q		No	ClinGen gnomAD
rs776069950 CA10316072	1623	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10316071 rs772698006	1624	S>C		No	ClinGen ExAC gnomAD
CA412191772 rs1418365748	1624	S>P		No	ClinGen TOPMed
rs745426084 CA10316070	1626	G>R		No	ClinGen ExAC gnomAD
CA412191700 rs1569509934	1627	G>A		No	ClinGen Ensembl
CA412191689 rs1329104780	1628	A>T		No	ClinGen TOPMed gnomAD
CA10316068 rs770660878	1629	P>S		No	ClinGen ExAC gnomAD
CA412191588 rs1406716100	1631	S>G		No	ClinGen gnomAD
rs1370451908 CA412191576	1631	S>N		No	ClinGen TOPMed
CA10316065 rs769524951	1632	R>K		No	ClinGen ExAC gnomAD
CA10316064 rs748082720	1633	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10316063 rs550773035	1633	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs750566645 CA10316061	1634	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753949284 CA10316059	1635	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10316058 rs753949284	1635	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1211341857 CA412191324	1637	W>C		No	ClinGen TOPMed
CA10316056 rs372406513	1638	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA412191274 rs1255527198	1639	C>R		No	ClinGen gnomAD
CA325527866 rs774526211	1640	Y>H		No	ClinGen gnomAD
CA10316053 rs759925776	1641	D>N		No	ClinGen ExAC gnomAD
rs1383334590 CA412191188	1642	S>G		No	ClinGen gnomAD
rs376409019 CA10316051	1644	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412191126 rs1158592167	1645	R>G		No	ClinGen gnomAD
rs373282723 CA10316049	1645	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373282723 CA10316048	1645	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158592167 CA412191125	1645	R>W		No	ClinGen gnomAD
rs1382634964 CA412191114	1646	A>T		No	ClinGen gnomAD
rs1556419626 CA412191086	1647	Q>*		No	ClinGen Ensembl
rs747994905 CA325527846	1647	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA10316046 rs780945039	1648	P>A		No	ClinGen ExAC gnomAD
rs1244203232 CA412191053	1648	P>R		No	ClinGen gnomAD
CA10316045 rs768609620	1649	D>N		No	ClinGen ExAC gnomAD
rs1255759968 CA412191027	1650	A>S		No	ClinGen TOPMed gnomAD
CA412191032 rs1255759968	1650	A>T	Variant assessed as Somatic; 5.092e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10316043 rs779062604	1653	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757215868 CA10316042	1653	R>H		No	ClinGen ExAC gnomAD
CA412190978 rs779062604	1653	R>S		No	ClinGen ExAC TOPMed gnomAD
rs6010066 CA325527840	1654	L>V		No	ClinGen ExAC gnomAD
CA412190900 rs1359850791	1656	E>K		No	ClinGen gnomAD
rs1556416950 CA412188160	1657	E>*		No	ClinGen Ensembl
rs776198448 CA10316009	1658	L>V		No	ClinGen ExAC gnomAD
rs763798710 CA412188142	1659	Q>*		No	ClinGen ExAC gnomAD
CA10316007 rs763798710	1659	Q>E		No	ClinGen ExAC gnomAD
CA412188124 rs1420014972	1660	R>K		No	ClinGen TOPMed
CA412188103 rs1556416935	1662	E>*		No	ClinGen Ensembl
rs1200114136 CA412188081	1663	T>I		No	ClinGen gnomAD
CA412188074 rs1556416931	1664	E>*		No	ClinGen Ensembl
CA412188059 rs775329310	1665	L>*		No	ClinGen ExAC gnomAD
rs775329310 CA10316005	1665	L>W		No	ClinGen ExAC gnomAD
rs1556416912 CA412188039	1667	Q>*		No	ClinGen Ensembl
CA412188010 rs1417364136	1669	A>D		No	ClinGen TOPMed
CA10316003 rs745758511	1669	A>T		No	ClinGen ExAC gnomAD
CA412188006 rs1556416897	1670	E>*		No	ClinGen Ensembl
rs748390126 CA10316000	1670	E>D		No	ClinGen ExAC
CA10316001 rs769939317	1670	E>G		No	ClinGen ExAC gnomAD
rs200415227 CA10315999	1671	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA412188000 rs1467543994	1671	R>H		No	ClinGen TOPMed gnomAD
CA412187999 rs1467543994	1671	R>P		No	ClinGen TOPMed gnomAD
CA325524914 rs200415227	1671	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747383843 CA10315997	1672	W>R		No	ClinGen ExAC gnomAD
rs1442020258 CA412187929	1675	T>A		No	ClinGen TOPMed
rs1189365251 CA412187888	1676	W>*		No	ClinGen gnomAD
CA412187898 rs1556416876	1676	W>*		No	ClinGen Ensembl
rs367954544 CA10315991	1678	R>P		No	ClinGen ExAC TOPMed gnomAD
rs367954544 CA10315992	1678	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10315993 rs531466401	1678	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412187846 rs1603430341	1679	V>G		No	ClinGen Ensembl
CA10315989 rs760339634	1679	V>M		No	ClinGen ExAC TOPMed gnomAD
CA412187843 rs1363779856	1680	K>Q		No	ClinGen TOPMed gnomAD
rs1313433618 CA412187785	1681	A>V		No	ClinGen TOPMed gnomAD
CA10315987 rs541812137 COSM1224704	1684	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs202115500 CA10315986	1684	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA325524885 rs541812137	1684	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1603430337 CA412187692	1686	E>G		No	ClinGen Ensembl
CA325524874 rs559398253	1686	E>K		No	ClinGen 1000Genomes
rs1375222204 CA412187673	1687	G>S		No	ClinGen TOPMed gnomAD
rs776750233 CA10315982	1688	R>Q		No	ClinGen ExAC gnomAD
CA10315983 rs762047021	1688	R>W		No	ClinGen ExAC TOPMed gnomAD
rs541136394 CA325524869	1689	P>L		No	ClinGen 1000Genomes
CA412187620 rs768802405	1690	D>E		No	ClinGen ExAC TOPMed gnomAD
rs747215974 CA10315980	1691	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10315979 rs750453086	1692	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750453086 CA10315978	1692	R>G		No	ClinGen ExAC TOPMed gnomAD
rs746226600 CA10315977	1692	R>H		No	ClinGen ExAC gnomAD
CA10315947 RCV000997948 rs376937027	1693	G>D		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10315948 rs200967306	1693	G>S		No	ClinGen ESP ExAC gnomAD
rs760865733 CA10315946	1695	P>R		No	ClinGen ExAC
rs769795524 CA325524780	1696	S>G		No	ClinGen Ensembl
rs1315643444 CA412187389	1697	S>A		No	ClinGen TOPMed
CA10315945 rs775409467	1697	S>F		No	ClinGen ExAC gnomAD
CA10315943 rs759711271	1699	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1015948880 CA325524768	1701	S>A		No	ClinGen Ensembl
CA325524765 rs953679120	1702	T>A		No	ClinGen TOPMed
CA10315938 rs773838625	1702	T>S		No	ClinGen ExAC gnomAD
rs747746536 CA325524760	1703	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10315936 rs747746536 COSM3405751	1703	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10315935 rs780818687	1704	P>A		No	ClinGen ExAC TOPMed
CA10315934 rs754710540	1704	P>L		No	ClinGen ExAC TOPMed gnomAD
CA325524756 rs1029115983	1705	H>P		No	ClinGen TOPMed
CA412187249 rs1464560765	1706	H>N		No	ClinGen TOPMed
CA10315933 rs370727376	1707	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA325524748 rs901723487 RCV001171730	1707	R>H		No	ClinGen ClinVar TOPMed dbSNP
rs199972466 CA10315932	1708	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412187219 rs1318826489	1708	R>H		No	ClinGen gnomAD
rs202197736 CA10315931	1709	S>L		No	ClinGen ExAC TOPMed gnomAD
CA412187191 rs1603430316	1711	G>A		No	ClinGen Ensembl
rs765267601 CA10315929	1712	V>A		No	ClinGen ExAC TOPMed gnomAD
CA10315927 rs752849602	1715	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA10315926 rs767535412	1717	G>E		No	ClinGen ExAC gnomAD
CA412187084 rs767535412	1717	G>V		No	ClinGen ExAC gnomAD
rs774487981 CA10315924	1719	V>M		No	ClinGen ExAC gnomAD
CA412187029 rs1168110454	1720	G>D		No	ClinGen gnomAD
CA412187006 rs1391895224	1721	S>F		No	ClinGen TOPMed
rs1603430312 CA412186974	1724	S>G		No	ClinGen Ensembl
CA325524714 rs902782859	1725	L>F		No	ClinGen TOPMed gnomAD
CA412186947 rs902782859	1725	L>V		No	ClinGen TOPMed gnomAD
CA325524712 rs1046652644	1726	S>C		No	ClinGen TOPMed
rs763434952 CA10315922	1726	S>R		No	ClinGen ExAC TOPMed gnomAD
rs773427322 CA10315921	1727	L>M		No	ClinGen ExAC gnomAD
rs937440285 CA325524702	1727	L>P		No	ClinGen Ensembl
CA10315919 rs374020231	1729	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1240252021 CA412186824	1730	D>N		No	ClinGen gnomAD
CA10315916 rs746666924	1731	Q>*		No	ClinGen ExAC
CA10315915 rs779908557	1731	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs377199835 CA10315914	1732	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs745711259 CA10315912	1733	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1447167857 CA412186730	1735	S>L		No	ClinGen gnomAD
rs757239892 CA10315910	1736	T>A		No	ClinGen ExAC gnomAD
rs567207880 COSM4156459 CA10315908	1739	G>S	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs755119602 CA10315907	1739	G>V		No	ClinGen ExAC gnomAD
rs751627335 CA10315906	1741	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10315905 rs766673874	1741	R>H		No	ClinGen ExAC gnomAD
rs1556416604 CA412186620	1742	Q>*		No	ClinGen Ensembl
rs939828718 CA325524673	1743	A>P		No	ClinGen TOPMed gnomAD
CA10315904 rs548204916	1743	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10315903 rs750835730	1744	A>T		No	ClinGen ExAC gnomAD
CA10315902 rs765474294	1745	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10315901 rs762399206	1745	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10315899 rs138127298	1746	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315900 rs138127298	1746	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs559286048 CA10315898	1746	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1482323429 CA412186528	1747	S>R		No	ClinGen gnomAD
rs1603430296 CA412186464	1750	T>P		No	ClinGen Ensembl
rs1556416574 CA412186372	1754	Q>*		No	ClinGen Ensembl
CA412186350 rs1355545449	1754	Q>H		No	ClinGen gnomAD
CA412186317 rs1556416566	1756	Q>*		No	ClinGen Ensembl
rs778782196 CA10315894	1757	T>A		No	ClinGen ExAC gnomAD
rs1339467326 CA412186278	1757	T>R		No	ClinGen gnomAD
rs1415436166 CA412186256	1759	E>G		No	ClinGen TOPMed
CA325524659 rs8889	1760	S>G		No	ClinGen Ensembl
CA412186222 rs1556416548	1761	E>*		No	ClinGen Ensembl
CA412186225 rs1556416548	1761	E>K		No	ClinGen Ensembl
CA412185257 rs1556416268	1766	E>*		No	ClinGen Ensembl
CA412185223 rs1603430224	1767	G>A		No	ClinGen Ensembl
rs1207867813 CA412185195	1768	T>N		No	ClinGen gnomAD
rs1603430223 CA412185211	1768	T>P		No	ClinGen Ensembl
RCV001009304 rs1603430221	1770	Y>missing		No	ClinVar dbSNP
CA10315873 rs769754594	1770	Y>*		No	ClinGen ExAC gnomAD
rs1219869978 CA412185137	1770	Y>F		No	ClinGen gnomAD
rs1258311867 CA412185160	1770	Y>H		No	ClinGen gnomAD
rs1556416248 CA412185112	1771	K>*		No	ClinGen Ensembl
rs1556416244 CA412185099	1772	K>*		No	ClinGen Ensembl
rs1234122324 RCV000627484	1774	A>missing		No	ClinVar dbSNP
rs780198678 CA10315871	1774	A>V		No	ClinGen ExAC gnomAD
rs1181329685 CA412185013	1776	M>I		No	ClinGen gnomAD
rs758345719 CA10315870	1776	M>V		No	ClinGen ExAC TOPMed gnomAD
CA412184999 rs1556416225	1777	K>*		No	ClinGen Ensembl
rs1209665714 CA412184972	1778	P>L		No	ClinGen TOPMed
rs1556416211 CA412184955	1779	W>*		No	ClinGen Ensembl
rs1556416216 CA412184963	1779	W>*		No	ClinGen Ensembl
CA412184944 rs1556416210	1780	K>*		No	ClinGen Ensembl
rs1274280310 CA412184919	1781	A>V		No	ClinGen TOPMed
rs1385481441 CA412184914	1782	R>C		No	ClinGen gnomAD
CA10315869 rs745958012	1782	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412184904 rs1556416199	1783	W>*		No	ClinGen Ensembl
rs1556416195 CA412184903	1783	W>*		No	ClinGen Ensembl
CA16043752 rs1057519116 RCV000415876	1787	D>H		No	ClinGen ClinVar Ensembl dbSNP
CA412184828 rs1421629806	1788	K>*		No	ClinGen gnomAD
CA412184830 rs1421629806	1788	K>E		No	ClinGen gnomAD
rs374697755 CA10315866	1788	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10315865 rs764499651	1789	T>I		No	ClinGen ExAC gnomAD
CA412184804 rs1478289744	1789	T>P		No	ClinGen gnomAD
CA325524368 rs764499651	1789	T>S		No	ClinGen ExAC gnomAD
CA412184788 rs1556416159	1790	K>*		No	ClinGen Ensembl
CA412184757 rs756702111	1792	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs756702111 CA10315864	1792	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA10315824 rs749374352	1794	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1361032632 CA412184591	1794	R>H		No	ClinGen gnomAD
CA325524277 COSM1417105 rs1052849995	1797	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10315821 rs547807779	1799	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547807779 CA325524272	1799	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755463300 CA10315819	1800	V>M		No	ClinGen ExAC gnomAD
rs1379235394 CA412184462	1801	D>A		No	ClinGen gnomAD
CA10315817 rs779547898	1802	T>A		No	ClinGen ExAC TOPMed gnomAD
CA412184437 rs1196548454	1802	T>R		No	ClinGen gnomAD
CA412184433 COSM3842944 rs1556416030	1803	E>*	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA412184391 rs1556416026	1804	C>*		No	ClinGen Ensembl
CA412184383 rs1556416024	1805	K>*		No	ClinGen Ensembl
CA10315814 rs749924188	1805	K>R		No	ClinGen ExAC TOPMed gnomAD
CA10315813 rs749924188	1805	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1434855048 CA412184365	1806	G>D		No	ClinGen TOPMed
rs764921921 CA10315812	1807	V>F		No	ClinGen ExAC gnomAD
rs1262039430 CA412184332	1809	D>N		No	ClinGen gnomAD
rs1556416011 CA412184311	1810	L>*		No	ClinGen Ensembl
rs1556416004 CA412184291	1812	E>*		No	ClinGen Ensembl
CA412184272 rs1556415995	1814	E>*		No	ClinGen Ensembl
rs763173046 CA412184249 CA10315805	1816	V>L		No	ClinGen ExAC gnomAD
CA412184231 rs1340978294	1817	A>V		No	ClinGen gnomAD
CA10315803 rs769942687	1818	P>R		No	ClinGen ExAC gnomAD
CA10315804 rs773396158	1818	P>S		No	ClinGen ExAC gnomAD
CA10315801 rs374954381	1820	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780599337 CA10315797	1823	M>V		No	ClinGen ExAC TOPMed gnomAD
rs758883650 CA10315796	1824	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10315795 rs561471329	1825	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1556415963 CA412184110	1827	K>*		No	ClinGen Ensembl
rs756870096 CA10315793	1827	K>N		No	ClinGen ExAC gnomAD
rs778343854 CA10315794	1827	K>R		No	ClinGen ExAC gnomAD
rs763649071 CA10315791	1829	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1603430187 CA412184057	1830	D>N		No	ClinGen Ensembl
rs1556415949 CA412184032	1831	E>*		No	ClinGen Ensembl
rs1556415940 CA412184005	1832	K>*		No	ClinGen Ensembl
CA412183999 rs1280011875	1832	K>R		No	ClinGen gnomAD
CA10315788 rs767601317	1833	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs955409675 CA412183940	1834	F>S		No	ClinGen TOPMed gnomAD
CA412183947 rs1293857123	1834	F>V		No	ClinGen gnomAD
rs955409675 CA325524217	1834	F>Y		No	ClinGen TOPMed gnomAD
rs1556415836 CA412183641	1838	K>*		No	ClinGen Ensembl
CA10315757 rs376846983	1840	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs375012426 CA10315756	1840	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10315753 rs747747731	1841	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10315754 rs747747731	1841	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10315752 rs770090328	1841	R>H	Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754888523 CA10315751	1842	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1241548260 CA412183505	1842	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs377451234 CA10315749	1843	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs377451234 CA412183499	1843	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412183421 rs1473903886	1845	N>S		No	ClinGen TOPMed
rs764019726 CA10315746	1846	F>L		No	ClinGen ExAC TOPMed gnomAD
CA412183354 rs1556415786	1847	C>*		No	ClinGen Ensembl
rs775751855 CA10315744	1847	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1390298395 CA412183362	1847	C>Y		No	ClinGen gnomAD
CA412183322 rs1556415783	1849	Q>*		No	ClinGen Ensembl
rs767709306 CA10315743	1850	D>N		No	ClinGen ExAC gnomAD
CA325524133 rs572361107	1851	V>A		No	ClinGen gnomAD
CA10315741 rs557791373	1851	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557791373 CA10315740	1851	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200103683 CA10315739 RCV000879003	1852	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10315737 rs769363049	1853	S>L		No	ClinGen ExAC TOPMed gnomAD
CA325524124 rs747149652	1854	A>T		No	ClinGen Ensembl
CA412183166 rs1445347987	1855	Q>*		No	ClinGen TOPMed
CA412183037 rs746863783	1860	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10315732 rs779676706	1860	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1166057 CA10315733 rs746863783	1860	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750259194 CA10315730	1862	Q>E		No	ClinGen ExAC gnomAD
CA412182962 rs1295255217	1863	S>G		No	ClinGen TOPMed
CA10315727 rs375565089	1866	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1037891565 CA412182840	1868	A>S		No	ClinGen TOPMed gnomAD
CA325524101 rs1037891565	1868	A>T		No	ClinGen TOPMed gnomAD

1 associated diseases with O95248

[MIM: 615284]: Charcot-Marie-Tooth disease 4B3 (CMT4B3)

A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology

Without disease ID

A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology

8 regional properties for O95248

Type	Name	Position	InterPro Accession
domain	cDENN domain	129 - 311	IPR001194
domain	Pleckstrin homology domain	1762 - 1868	IPR001849
domain	GRAM domain	882 - 1018	IPR004182
domain	dDENN domain	364 - 433	IPR005112
domain	uDENN domain	1 - 86	IPR005113
domain	Myotubularin-like, phosphatase domain	1121 - 1597	IPR010569
domain	SBF1/SBF2 domain	543 - 765	IPR022096
domain	Tripartite DENN domain	7 - 440	IPR037516

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, perinuclear region
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

3 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
phosphatase regulator activity	Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.
protein tyrosine/serine/threonine phosphatase activity	Catalysis of the reactions: protein serine + H2O = protein serine + phosphate; protein threonine phosphate + H2O = protein threonine + phosphate; and protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

3 GO annotations of biological process

Name	Definition
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6IQ26	DENND5A	DENN domain-containing protein 5A	Homo sapiens (Human)	PR
Q6ZUT9	DENND5B	DENN domain-containing protein 5B	Homo sapiens (Human)	PR
Q86WG5	SBF2	Myotubularin-related protein 13	Homo sapiens (Human)	PR
Q13613	MTMR1	Myotubularin-related protein 1	Homo sapiens (Human)	PR
Q13496	MTM1	Myotubularin	Homo sapiens (Human)	PR
Q13614	MTMR2	Myotubularin-related protein 2	Homo sapiens (Human)	PR
Q96QG7	MTMR9	Myotubularin-related protein 9	Homo sapiens (Human)	PR
Q9Y217	MTMR6	Myotubularin-related protein 6	Homo sapiens (Human)	PR
Q9Y216	MTMR7	Myotubularin-related protein 7	Homo sapiens (Human)	PR
Q6PAL8	Dennd5a	DENN domain-containing protein 5A	Mus musculus (Mouse)	PR
A2RSQ0	Dennd5b	DENN domain-containing protein 5B	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MARLADYFVL	VAFGPHPRGS	GEGQGQILQR	FPEKDWEDNP	FPQGIELFCQ	PSGWQLCPER
70	80	90	100	110	120
NPPTFFVAVL	TDINSERHYC	ACLTFWEPAE	PSQQETTRVE	DATEREEEGD	EGGQTHLSPT
130	140	150	160	170	180
APAPSAQLFA	PKTLVLVSRL	DHTEVFRNSL	GLIYAIHVEG	LNVCLENVIG	NLLTCTVPLA
190	200	210	220	230	240
GGSQRTISLG	AGDRQVIQTP	LADSLPVSRC	SVALLFRQLG	ITNVLSLFCA	ALTEHKVLFL
250	260	270	280	290	300
SRSYQRLADA	CRGLLALLFP	LRYSFTYVPI	LPAQLLEVLS	TPTPFIIGVN	AAFQAETQEL
310	320	330	340	350	360
LDVIVADLDG	GTVTIPECVH	IPPLPEPLQS	QTHSVLSMVL	DPELELADLA	FPPPTTSTSS
370	380	390	400	410	420
LKMQDKELRA	VFLRLFAQLL	QGYRWCLHVV	RIHPEPVIRF	HKAAFLGQRG	LVEDDFLMKV
430	440	450	460	470	480
LEGMAFAGFV	SERGVPYRPT	DLFDELVAHE	VARMRADENH	PQRVLRHVQE	LAEQLYKNEN
490	500	510	520	530	540
PYPAVAMHKV	QRPGESSHLR	RVPRPFPRLD	EGTVQWIVDQ	AAAKMQGAPP	AVKAERRTTV
550	560	570	580	590	600
PSGPPMTAIL	ERCSGLHVNS	ARRLEVVRNC	ISYVFEGKML	EAKKLLPAVL	RALKGRAARR
610	620	630	640	650	660
CLAQELHLHV	QQNRAVLDHQ	QFDFVVRMMN	CCLQDCTSLD	EHGIAAALLP	LVTAFCRKLS
670	680	690	700	710	720
PGVTQFAYSC	VQEHVVWSTP	QFWEAMFYGD	VQTHIRALYL	EPTEDLAPAQ	EVGEAPSQED
730	740	750	760	770	780
ERSALDVASE	QRRLWPTLSR	EKQQELVQKE	ESTVFSQAIH	YANRMSYLLL	PLDSSKSRLL
790	800	810	820	830	840
RERAGLGDLE	SASNSLVTNS	MAGSVAESYD	TESGFEDAET	CDVAGAVVRF	INRFVDKVCT
850	860	870	880	890	900
ESGVTSDHLK	GLHVMVPDIV	QMHIETLEAV	QRESRRLPPI	QKPKLLRPRL	LPGEECVLDG
910	920	930	940	950	960
LRVYLLPDGR	EEGAGGSAGG	PALLPAEGAV	FLTTYRVIFT	GMPTDPLVGE	QVVVRSFPVA
970	980	990	1000	1010	1020
ALTKEKRISV	QTPVDQLLQD	GLQLRSCTFQ	LLKMAFDEEV	GSDSAELFRK	QLHKLRYPPD
1030	1040	1050	1060	1070	1080
IRATFAFTLG	SAHTPGRPPR	VTKDKGPSLR	TLSRNLVKNA	KKTIGRQHVT	RKKYNPPSWE
1090	1100	1110	1120	1130	1140
HRGQPPPEDQ	EDEISVSEEL	EPSTLTPSSA	LKPSDRMTMS	SLVERACCRD	YQRLGLGTLS
1150	1160	1170	1180	1190	1200
SSLSRAKSEP	FRISPVNRMY	AICRSYPGLL	IVPQSVQDNA	LQRVSRCYRQ	NRFPVVCWRS
1210	1220	1230	1240	1250	1260
GRSKAVLLRS	GGLHGKGVVG	LFKAQNAPSP	GQSQADSSSL	EQEKYLQAVV	SSMPRYADAS
1270	1280	1290	1300	1310	1320
GRNTLSGFSS	AHMGSHGKWG	SVRTSGRSSG	LGTDVGSRLA	GRDALAPPQA	NGGPPDPGFL
1330	1340	1350	1360	1370	1380
RPQRAALYIL	GDKAQLKGVR	SDPLQQWELV	PIEVFEARQV	KASFKKLLKA	CVPGCPAAEP
1390	1400	1410	1420	1430	1440
SPASFLRSLE	DSEWLIQIHK	LLQVSVLVVE	LLDSGSSVLV	GLEDGWDITT	QVVSLVQLLS
1450	1460	1470	1480	1490	1500
DPFYRTLEGF	RLLVEKEWLS	FGHRFSHRGA	HTLAGQSSGF	TPVFLQFLDC	VHQVHLQFPM
1510	1520	1530	1540	1550	1560
EFEFSQFYLK	FLGYHHVSRR	FRTFLLDSDY	ERIELGLLYE	EKGERRGQVP	CRSVWEYVDR
1570	1580	1590	1600	1610	1620
LSKRTPVFHN	YMYAPEDAEV	LRPYSNVSNL	KVWDFYTEET	LAEGPPYDWE	LAQGPPEPPE
1630	1640	1650	1660	1670	1680
EERSDGGAPQ	SRRRVVWPCY	DSCPRAQPDA	ISRLLEELQR	LETELGQPAE	RWKDTWDRVK
1690	1700	1710	1720	1730	1740
AAQRLEGRPD	GRGTPSSLLV	STAPHHRRSL	GVYLQEGPVG	STLSLSLDSD	QSSGSTTSGS
1750	1760	1770	1780	1790	1800
RQAARRSTST	LYSQFQTAES	ENRSYEGTLY	KKGAFMKPWK	ARWFVLDKTK	HQLRYYDHRV
1810	1820	1830	1840	1850	1860
DTECKGVIDL	AEVEAVAPGT	PTMGAPKTVD	EKAFFDVKTT	RRVYNFCAQD	VPSAQQWVDR

IQSCLSDA