AiPD: Autoinhibited Protein Database

Q9Y6D5

Gene name	ARFGEF2 (ARFGEP2, BIG2)
Protein name	Brefeldin A-inhibited guanine nucleotide-exchange protein 2
Names	Brefeldin A-inhibited GEP 2, ADP-ribosylation factor guanine nucleotide-exchange factor 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10564
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-80 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-80 (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

3 structures for Q9Y6D5

Entry ID	Method	Resolution	Chain	Position	Source
3L8N	X-ray	286 A	A	635-836	PDB
3SWV	X-ray	300 A	A	635-836	PDB
AF-Q9Y6D5-F1	Predicted				AlphaFoldDB

1178 variants for Q9Y6D5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs374268118 RCV001141899 CA9898083	53	G>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000116398 RCV000422117 rs73113975 CA151888 RCV000262014	57	P>S	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9898135 rs143956045 RCV001252729 RCV001664618 RCV001335420	113	R>Q	Periventricular heterotopia with microcephaly, autosomal recessive Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753026131 RCV001141900 CA9898170	152	I>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000710616 RCV000425899 VAR_037438 RCV000005353 CA213135 rs28937880	209	E>K	Periventricular heterotopia with microcephaly, autosomal recessive PVNH2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000162104 rs730882200 RCV000484140	220	V>missing	Global developmental delay [ClinVar]	Yes	ClinVar dbSNP
COSM1027661 RCV001550480 RCV001141901 rs200040098 CA9898217	232	R>C	skin endometrium Periventricular heterotopia with microcephaly, autosomal recessive [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000385788 rs140989375 CA9898218 RCV002523161 RCV000500597	232	R>H	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV003139908 RCV000873736 CA9898231 rs150046458	257	R>K	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000432676 RCV000874281 CA230908 rs143570842 RCV000350612	271	P>A	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10649845 RCV000427962 rs372150935 RCV000388862	283	D>N	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV002541595 RCV001262567 CA9898298 CA409324709 rs756966050	339	G>R	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
rs886056752 RCV000345138 CA10652607	355	S>L	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001335417 CA315912018 rs752769332 COSM1412300	369	V>I	large_intestine Variant assessed as Somatic; impact. Periventricular heterotopia with microcephaly, autosomal recessive [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
rs1022300649 CA315913001 RCV001143702 COSM1027669	402	R>C	Variant assessed as Somatic; 0.0 impact. pancreas endometrium Periventricular heterotopia with microcephaly, autosomal recessive [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
CA409326598 CA9898360 RCV001137149 rs777757005	414	V>L	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA9898361 RCV001137150 rs753932082	416	Q>P	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000339293 CA9898373 rs41296207 RCV001850819	432	I>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000990309 rs1600623496	498	M>missing	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
CA9898408 rs771654087 RCV001139383	500	I>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA9898431 rs770424682 RCV000260060	529	I>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001139385 COSM1412302 CA315915178 rs370911063	612	R>W	large_intestine Periventricular heterotopia with microcephaly, autosomal recessive Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
RCV000726764 RCV000193884 CA207661 rs146772848 RCV000355809	630	V>I	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001142002 rs2091321833	716	D>G	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
CA409304724 COSM1730458 rs1383096323 RCV001142004	751	A>S	liver Periventricular heterotopia with microcephaly, autosomal recessive [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA9898576 rs368246400 RCV001335419	754	I>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000387411 rs886056755	763	F>missing	Periventricular laminar heterotopia [ClinVar]	Yes	ClinVar dbSNP
CA9898631 RCV001263382 RCV002537654 rs532986318	793	T>M	Global developmental delay Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs141183045 RCV001251677 RCV001142006 CA9898684	853	R>Q	Intellectual disability Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1555811929 RCV000504204	880	P>missing	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
RCV000289672 rs886056756 CA10653203	944	Y>F	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000414382 RCV000346910 rs149644732 CA9898806 RCV002520016	1016	G>R	Periventricular heterotopia with microcephaly, autosomal recessive Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000516387 RCV002527455 rs144322567 CA9898809	1019	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA409312974 rs1568729284 RCV000714542	1088	V>I	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001819841 RCV001137254 RCV002556918 rs144190029 CA9898893	1092	R>C	Periventricular heterotopia with microcephaly, autosomal recessive Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs151045115 RCV000826999 CA209462 RCV000194953 RCV001137255	1092	R>H	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001251676 rs144190029	1092	R>S	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001335421 CA9899014 RCV002546732 rs762641248	1240	I>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001137258 rs139037316 RCV000710613 RCV001251678 RCV000193054 CA206285	1298	G>S	Intellectual disability Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771148216 CA9899119 RCV000342283	1354	V>A	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001139512 CA409326257 rs1319305357	1407	Y>N	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001196577 rs2091529784	1424	L>missing	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
rs200473895 CA9899195 RCV000981683 RCV001140272	1449	N>T	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756288865 RCV001140273 CA9899196	1450	C>S	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10644046 RCV000308182 rs886056757	1458	N>S	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs151221957 RCV000764248 CA230900 RCV000116406	1488	T>S	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002520017 CA9899233 rs200763159 RCV000277712	1494	M>V	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV003114499 rs774033935 CA9899249 RCV000332749	1509	R>H	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9899300 RCV001140274 rs757149873	1578	A>P	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA9899333 RCV002519530 COSM1183339 RCV000430855 rs368410119	1597	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA9899377 RCV001507470 RCV000501393 RCV002527198 rs778607741 COSM1245312	1675	R>H	oesophagus Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000710615 RCV000274139 CA9899383 RCV002520018 RCV000503791 rs145439001 RCV001251675	1688	T>I	Intellectual disability Periventricular heterotopia with microcephaly, autosomal recessive Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs767531219 RCV000319829 CA9899405	1702	S>F	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs201225495 RCV000374455 RCV002520019 CA9899407	1706	R>Q	Periventricular laminar heterotopia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1380925561 RCV000990310 COSM1734667 CA409340131	1752	R>*	pancreas Periventricular heterotopia with microcephaly, autosomal recessive [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
RCV001142110 rs1321725717 CA409340198	1759	F>L	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA9899443 rs774661656 RCV001142111	1762	I>M	Periventricular heterotopia with microcephaly, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1165050601 CA409308727	2	Q>E		No	ClinGen TOPMed
rs1276866521 CA409308784	3	E>D		No	ClinGen gnomAD
rs745849324 CA9898030	8	S>R		No	ClinGen ExAC gnomAD
rs772040749 CA9898031	10	F>L		No	ClinGen ExAC gnomAD
rs1466186964 CA409308966	10	F>S		No	ClinGen gnomAD
CA409308995 rs1209329243 CA409308998	11	V>L		No	ClinGen gnomAD
CA409309101 rs1050725257	14	A>D		No	ClinGen TOPMed gnomAD
rs1050725257 CA315881037	14	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	15	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1156311854 CA409309155	17	K>E		No	ClinGen gnomAD
rs570402505 CA9898037	23	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA409309433 rs1489997119	24	V>A		No	ClinGen TOPMed
rs368323926 CA9898038	24	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291455096 CA409309472	26	R>G		No	ClinGen TOPMed
CA409309474 rs1291455096	26	R>W		No	ClinGen TOPMed
CA230906 RCV000116409 rs587780282	27	P>S		No	ClinGen ClinVar dbSNP gnomAD
CA409309557 rs1228887850	29	H>Y		No	ClinGen gnomAD
CA9898041 rs751708790	30	S>F		No	ClinGen ExAC TOPMed gnomAD
CA409309649 rs1211420853	31	Q>R		No	ClinGen gnomAD
CA409309701 rs1482517832	33	R>C		No	ClinGen gnomAD
CA315881102 rs868644761	33	R>H		No	ClinGen TOPMed
rs868644761 CA315881119	33	R>L		No	ClinGen TOPMed
rs866102950 CA315881131	35	A>D		No	ClinGen Ensembl
rs906585026 RCV000499752 CA315881124	35	A>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA315881135 rs892511786	37	Q>H		No	ClinGen TOPMed gnomAD
rs1253309694 CA409309818	37	Q>R		No	ClinGen gnomAD
TCGA novel	38	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409309830 rs1324074758	38	V>M		No	ClinGen TOPMed
CA9898042 rs755065294	39	A>V		No	ClinGen ExAC gnomAD
rs1406043421 CA409309857	40	L>F		No	ClinGen TOPMed
rs759701587 CA9898060	41	D>V		No	ClinGen ExAC gnomAD
CA315892985 rs931213978	43	I>N		No	ClinGen TOPMed
CA9898063 rs756329199	47	I>M		No	ClinGen ExAC gnomAD
rs752815154 CA9898062	47	I>T		No	ClinGen ExAC gnomAD
rs200905854 CA315893000	49	K>R		No	ClinGen 1000Genomes
CA409314753 rs1202119114	52	L>P		No	ClinGen TOPMed
CA209128 RCV000710612 RCV002252043 RCV000194749 rs149471454	58	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9898085 rs754961991	60	A>T		No	ClinGen ExAC gnomAD
rs777301494 CA9898089	63	I>M		No	ClinGen ExAC gnomAD
CA9898088 rs201168593	63	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9898087 rs747639378	63	I>V		No	ClinGen ExAC TOPMed gnomAD
rs749005425 CA9898090	67	K>N		No	ClinGen ExAC TOPMed gnomAD
CA409315080 rs746211545	72	F>L		No	ClinGen ExAC TOPMed gnomAD
CA409315087 rs1317840037 COSM1183335	73	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA315893489 rs1036945229	75	A>G		No	ClinGen TOPMed
CA409315139 rs1264128952	79	K>M		No	ClinGen TOPMed gnomAD
CA409315138 rs1264128952	79	K>R		No	ClinGen TOPMed gnomAD
CA9898096 rs775999493	80	S>F		No	ClinGen ExAC gnomAD
rs760685905 CA9898097	82	R>K		No	ClinGen ExAC gnomAD
rs1045171320 CA315893507	86	T>A		No	ClinGen TOPMed gnomAD
rs764293660 CA9898098	87	S>C		No	ClinGen ExAC TOPMed gnomAD
CA315893516 rs867461721	88	L>F		No	ClinGen Ensembl
rs1469342954 CA409315251	91	L>W		No	ClinGen TOPMed
rs1555808172 CA409317046 RCV000501552	95	I>T		No	ClinGen ClinVar Ensembl dbSNP
rs963623819 CA315900140	96	A>G		No	ClinGen TOPMed
rs1358124572 CA409317053	96	A>T		No	ClinGen TOPMed gnomAD
rs963623819 CA409317064	96	A>V		No	ClinGen TOPMed
rs1447888913 CA409317071	97	Y>H		No	ClinGen TOPMed gnomAD
CA409317066 rs1447888913	97	Y>N		No	ClinGen TOPMed gnomAD
CA9898125 rs180938877 CA315900181	98	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9898127 rs753420388	99	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1216597512 CA409317175	102	G>D		No	ClinGen gnomAD
rs200124620 CA409317207	104	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200124620 CA9898129	104	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200124620 CA315900214	104	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111612717 CA9898130	107	S>G		No	ClinGen ExAC gnomAD
CA9898132 rs780511001	109	A>T		No	ClinGen ExAC gnomAD
rs747316402 CA9898133	109	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1284398539 CA409317327	112	K>R		No	ClinGen TOPMed
rs762961927 CA315900329	113	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	115	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748227723 CA9898136	116	D>N		No	ClinGen ExAC gnomAD
CA409317445 rs1303017676	122	I>T		No	ClinGen gnomAD
CA9898137 rs769803557	123	C>F		No	ClinGen ExAC gnomAD
CA315900355 rs769803557	123	C>Y		No	ClinGen ExAC gnomAD
rs1162667125 CA409317462	124	S>G		No	ClinGen TOPMed
CA315900360 rs772035972	124	S>I		No	ClinGen Ensembl
rs201243885 CA315900364	129	P>L		No	ClinGen 1000Genomes
CA9898138 rs773264259	131	T>A		No	ClinGen ExAC gnomAD
CA9898139 rs746335162	131	T>S		No	ClinGen ExAC TOPMed gnomAD
CA409317568 rs771026485	133	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9898140 rs771026485	133	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1165877089 CA409317593	134	G>E		No	ClinGen TOPMed
rs1472399577 CA409317610 COSM1713622	135	V>A	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1433096320 CA409317601	135	V>I		No	ClinGen gnomAD
rs775402622 CA9898142	138	Q>H		No	ClinGen ExAC gnomAD
rs1437141829 CA409317976	146	A>T		No	ClinGen TOPMed
CA409317994 rs1201196534	146	A>V		No	ClinGen TOPMed gnomAD
CA9898167 rs751110792	149	S>Y		No	ClinGen ExAC gnomAD
CA9898168 rs754607709	151	H>L		No	ClinGen ExAC gnomAD
rs754607709 CA9898169	151	H>R		No	ClinGen ExAC gnomAD
rs1427169926 CA409318201	155	H>R		No	ClinGen TOPMed
rs756660818 CA9898171	155	H>Y		No	ClinGen ExAC gnomAD
CA409318248 rs1471473936	157	G>V		No	ClinGen gnomAD
rs980743787 CA409318283	159	I>L		No	ClinGen TOPMed gnomAD
CA315901422 rs980743787	159	I>V		No	ClinGen TOPMed gnomAD
CA9898172 rs778091258	162	T>A		No	ClinGen ExAC gnomAD
rs1186785899 CA409318379	163	V>M		No	ClinGen TOPMed
rs926611490 CA315901433	164	R>K		No	ClinGen gnomAD
rs148230420 CA205639 RCV000192666 RCV001582680	165	T>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9898174 rs779037797	165	T>I		No	ClinGen ExAC gnomAD
rs1239732393 CA409318492	167	Y>N		No	ClinGen gnomAD
rs776619240 CA9898177	170	Y>C		No	ClinGen ExAC gnomAD
rs1212861803 CA409318627	172	A>S		No	ClinGen TOPMed
CA409318666 rs1464222003	173	S>R		No	ClinGen gnomAD
rs747905295 CA9898178	174	K>N		No	ClinGen ExAC gnomAD
rs769886100 CA9898180	177	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9898181 rs747058589	178	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	178	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409318837 rs1335584622	179	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9898182 rs762542334	182	A>G		No	ClinGen ExAC
rs765860851 CA9898183	185	T>A		No	ClinGen ExAC gnomAD
CA409319030 rs1309085044	192	V>I		No	ClinGen TOPMed
TCGA novel	194	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315901468 RCV000503337 rs373500218	196	R>C		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA315901462 rs373500218	196	R>G		No	ClinGen ESP TOPMed gnomAD
COSM159148 rs572333257 CA9898185	196	R>H	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA9898186 rs572333257	196	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9898187 rs113464272	197	M>L		No	ClinGen ExAC gnomAD
CA315901497 rs113464272	197	M>V		No	ClinGen ExAC gnomAD
CA409319978 rs1165645632	198	E>K		No	ClinGen gnomAD
rs1386083198 CA409319998	199	N>K		No	ClinGen gnomAD
rs940545342 CA315901517	200	Q>E		No	ClinGen TOPMed gnomAD
rs1036270873 CA315901536	201	V>M		No	ClinGen Ensembl
rs141147462 CA9898211	202	L>W		No	ClinGen ExAC gnomAD
CA409320104 rs1236307719	204	E>G		No	ClinGen TOPMed
CA9898212 rs370991401	205	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	207	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409320162 rs1210548683	210	K>Q		No	ClinGen gnomAD
CA409320182 rs1244078899	211	P>Q		No	ClinGen gnomAD
CA409320188 rs1240328074	212	I>V		No	ClinGen gnomAD
CA9898214 rs201458210	214	S>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1343537843 CA409320287	218	S>C		No	ClinGen TOPMed
CA409320350 rs1264139946	222	Q>P		No	ClinGen gnomAD
CA409320430 rs1420852191	225	A>V		No	ClinGen TOPMed
rs1429398335 CA409320464	228	P>A		No	ClinGen gnomAD
COSM1245313 CA9898215 rs780440668	229	K>E	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9898216 rs751892205	230	F>L		No	ClinGen ExAC TOPMed gnomAD
rs974192671 CA409320537	231	V>F		No	ClinGen TOPMed gnomAD
COSM1412297 rs974192671 CA315902362	231	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs140989375 CA9898219	232	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA315902387 rs144949006	234	K>N		No	ClinGen ESP TOPMed gnomAD
CA315902389 rs1017267898	236	S>G		No	ClinGen TOPMed gnomAD
CA409320657 rs1017267898	236	S>R		No	ClinGen TOPMed gnomAD
CA9898220 rs149041704	238	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1280785872 CA409320724	239	Q>R		No	ClinGen gnomAD
rs1050288163 CA315902417	240	S>N		No	ClinGen TOPMed gnomAD
rs745385629 CA9898222	243	T>R		No	ClinGen ExAC gnomAD
CA315902456 rs560977605	243	T>S		No	ClinGen Ensembl
rs774976613 CA9898224	246	E>K		No	ClinGen ExAC TOPMed gnomAD
CA315902465 rs956169696	246	E>V		No	ClinGen TOPMed
CA9898225 rs760361370	247	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1486298082 CA409320999	249	D>G		No	ClinGen TOPMed gnomAD
rs1486298082 CA409321000	249	D>V		No	ClinGen TOPMed gnomAD
rs114729625 RCV000116408 CA230904	252	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9898227 rs776884400	252	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1345176351 CA409321085	253	G>A		No	ClinGen gnomAD
CA9898229 rs754473579	253	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1411135757 CA409321094	254	E>Q		No	ClinGen gnomAD
rs750906284 CA9898230	255	H>R		No	ClinGen ExAC TOPMed gnomAD
CA409321145 rs1160983349	256	A>S		No	ClinGen gnomAD
rs1345624164 CA409321158	256	A>V		No	ClinGen gnomAD
rs767149566 CA315902544	258	S>N		No	ClinGen Ensembl
rs755201684 CA9898234	264	S>N		No	ClinGen ExAC gnomAD
rs781424305 CA9898235	265	T>I		No	ClinGen ExAC
rs145245951 CA9898236	269	D>G		No	ClinGen ESP ExAC gnomAD
CA209095 COSM1027665 rs778834589 RCV000194727	270	A>T	large_intestine endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs143570842 CA9898237	271	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA315902571 rs1043533503	272	R>G		No	ClinGen TOPMed gnomAD
rs375582617 CA9898238	272	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA409321380 rs1289865175	272	R>S		No	ClinGen gnomAD
rs746481367 CA9898239	273	E>Q		No	ClinGen ExAC gnomAD
CA9898240 rs533047547	275	G>A		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	275	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315902588 rs533047547	275	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA409321461 rs1283637181	277	S>P		No	ClinGen gnomAD
rs368886420 RCV000503367 CA9898261 RCV001851400	282	D>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs571231961 CA9898263	284	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9898264 rs774856463	288	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759549446 CA9898265	292	I>V		No	ClinGen ExAC gnomAD
rs767695533 CA9898266	295	D>H		No	ClinGen ExAC gnomAD
rs1359889136 CA409323328	297	V>D		No	ClinGen gnomAD
RCV000192740 rs797045260 CA205766	300	A>P		No	ClinGen ClinVar Ensembl dbSNP
CA409323351 rs1273885456	300	A>V		No	ClinGen gnomAD
rs1264717154 CA409323365	301	I>T		No	ClinGen gnomAD
rs1201743076 CA409323356	301	I>V		No	ClinGen gnomAD
CA409323377 rs1600615413	302	K>R		No	ClinGen Ensembl
CA9898267 rs775427871	303	E>Q		No	ClinGen ExAC gnomAD
CA409324101 rs1402617814	305	A>V		No	ClinGen TOPMed gnomAD
rs772436231 CA9898284	306	E>D		No	ClinGen ExAC gnomAD
CA315910470 rs989708411	306	E>G		No	ClinGen TOPMed gnomAD
CA409324102 rs1364963057	306	E>K		No	ClinGen gnomAD
CA9898286 rs760704756	309	G>S		No	ClinGen ExAC gnomAD
CA9898287 rs768868961	309	G>V		No	ClinGen ExAC gnomAD
CA9898288 rs200834017	310	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	311	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898290 rs762006750	313	P>A		No	ClinGen ExAC TOPMed gnomAD
rs762006750 CA9898291	313	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762006750 CA9898289	313	P>T		No	ClinGen ExAC TOPMed gnomAD
CA409324236 rs1290598848	315	R>I		No	ClinGen TOPMed gnomAD
rs1015138690 CA315910482	315	R>S		No	ClinGen Ensembl
rs1489753687 CA409324270	318	G>S		No	ClinGen TOPMed gnomAD
rs1057523412 RCV000422521 CA16608450	319	E>K		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	320	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	326	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898292 rs759571450	326	A>V		No	ClinGen ExAC gnomAD
CA409324433 rs767312168	327	I>L		No	ClinGen ExAC TOPMed gnomAD
CA315910515 rs201897249	327	I>T		No	ClinGen 1000Genomes TOPMed
CA9898293 rs767312168	327	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9898294 rs752285808	328	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752285808 CA409324443	328	P>T		No	ClinGen ExAC TOPMed gnomAD
CA409324458 rs1173049625	329	P>A		No	ClinGen TOPMed
CA409324464 rs1228845330	329	P>L		No	ClinGen gnomAD
rs1600617295 CA409324576	334	N>T		No	ClinGen Ensembl
CA409324610 rs1159411415	335	S>L		No	ClinGen gnomAD
rs201523904 CA9898297	338	N>K		No	ClinGen ExAC gnomAD
CA409324677 rs1384826807	338	N>S		No	ClinGen gnomAD
rs1391576883 CA409324720	339	G>E		No	ClinGen gnomAD
TCGA novel	340	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326779899 CA409324735	340	I>V		No	ClinGen gnomAD
rs530413492 CA409324778	342	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530413492 CA9898302	342	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA315910553 rs927935633	344	R>K		No	ClinGen TOPMed
rs1356788227 CA409324879	345	Q>K		No	ClinGen TOPMed gnomAD
CA9898304 rs768779186	347	L>V		No	ClinGen ExAC gnomAD
rs373673423 CA9898306	348	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195662727 CA409324971	348	S>L		No	ClinGen TOPMed gnomAD
rs373673423 CA9898307	348	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568711938 CA409325459	356	D>N		No	ClinGen Ensembl
rs1568711950 CA409325479	358	Q>K		No	ClinGen Ensembl
CA9898333 rs776311839	359	G>R		No	ClinGen ExAC gnomAD
CA409325505 rs1403542773	360	H>P		No	ClinGen gnomAD
CA9898334 rs761161448	364	A>G		No	ClinGen ExAC gnomAD
rs1600620368 CA409325576	366	F>V		No	ClinGen Ensembl
TCGA novel	371	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	374	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219716469 CA409325733	378	F>C		No	ClinGen gnomAD
CA315912021 rs756248801	378	F>L		No	ClinGen TOPMed gnomAD
CA9898337 rs758062147	379	R>C		No	ClinGen ExAC gnomAD
CA409325745 COSM373828 rs1568712014	379	R>H	lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1256995975 CA409325756	381	L>M		No	ClinGen TOPMed gnomAD
rs1263894229 CA409325831	387	K>I		No	ClinGen gnomAD
CA9898341 rs781638690	388	P>T		No	ClinGen ExAC gnomAD
CA409325975 rs1198528025	389	L>F		No	ClinGen gnomAD
CA409326004 rs1293643539	392	G>S		No	ClinGen TOPMed
CA409326020 rs1427097424	393	P>L		No	ClinGen gnomAD
CA315912026 rs557395705	394	P>S		No	ClinGen gnomAD
CA409326381 rs1423651155	401	L>R		No	ClinGen gnomAD
COSM1412301 CA9898354 rs762557818	402	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9898355 rs765964346	403	S>F		No	ClinGen ExAC gnomAD
CA315913009 rs970042155	406	V>L		No	ClinGen gnomAD
CA409326511 rs1354641323	408	L>Q		No	ClinGen gnomAD
CA315913023 rs768040314	412	L>F		No	ClinGen gnomAD
CA315913019 rs768040314	412	L>V		No	ClinGen gnomAD
rs1238614423 CA409326681	419	G>A		No	ClinGen gnomAD
CA409326687 rs1240723813	420	P>S		No	ClinGen gnomAD
CA9898365 rs768627578	421	V>E		No	ClinGen ExAC gnomAD
COSM189780 rs746814084 CA9898364	421	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9898367 rs117131028 CA409326784	425	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9898366 rs781129285	425	H>Y		No	ClinGen ExAC gnomAD
CA9898368 rs566630105	426	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA9898369 rs566630105	426	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs534091799 CA9898370	427	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409326859 rs1458193846	430	N>D		No	ClinGen TOPMed
rs773939256 CA9898371	430	N>K		No	ClinGen ExAC gnomAD
rs373419435 RCV000428564 CA16607990	430	N>S		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA9898372 rs375799646	431	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753076476 CA9898374	433	K>R		No	ClinGen ExAC gnomAD
CA9898375 rs761137115	442	K>R		No	ClinGen ExAC gnomAD
CA9898377 rs753867046	444	G>S		No	ClinGen ExAC gnomAD
CA409327132 rs150152511	445	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9898379 rs150152511	445	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199503521 CA315913133	449	P>L		No	ClinGen Ensembl
CA409327223 rs758659383	450	D>G		No	ClinGen ExAC gnomAD
rs758659383 CA9898381	450	D>V		No	ClinGen ExAC gnomAD
rs780896724 CA9898382	451	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1185399485 CA409327256	452	F>V		No	ClinGen gnomAD
rs1323241237 CA409327302	454	L>R		No	ClinGen TOPMed
CA315913161 rs1025249321	455	S>C		No	ClinGen TOPMed
CA409327719 rs747769286 COSM4134618	458	I>F	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed
CA315913178 rs747769286	458	I>V		No	ClinGen TOPMed
TCGA novel	459	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409327786 rs1418766438	460	L>V		No	ClinGen TOPMed
CA9898384 rs570757258	461	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA409327843 rs1401393228	463	L>F		No	ClinGen TOPMed gnomAD
CA409327850 rs1401393228	463	L>V		No	ClinGen TOPMed gnomAD
CA9898386 rs748765878	465	N>I		No	ClinGen ExAC gnomAD
rs1334789137 CA409327890	465	N>K		No	ClinGen gnomAD
CA409327943 rs1196396744	467	K>N		No	ClinGen TOPMed
rs773851044 CA9898387	467	K>Q		No	ClinGen ExAC gnomAD
CA9898388 rs759227223	468	M>V		No	ClinGen ExAC gnomAD
rs1600622536 CA409327982	469	H>N		No	ClinGen Ensembl
TCGA novel	472	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	479	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs544862151 CA315913710	480	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA409328494 rs1276344205	483	L>M		No	ClinGen gnomAD
rs1281713053 CA409328600	488	T>A		No	ClinGen gnomAD
CA409328625 rs1216665703	489	S>*		No	ClinGen gnomAD
CA9898405 rs757158875	490	T>A		No	ClinGen ExAC gnomAD
rs1367064251 CA409328682	492	S>F		No	ClinGen TOPMed
CA409328713 rs1490315656	493	F>S		No	ClinGen gnomAD
CA409328735 rs1197415440	494	E>G		No	ClinGen gnomAD
CA9898406 rs147345525	496	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA315913711 rs937477163	496	R>S		No	ClinGen Ensembl
rs1418594302 CA409328796	497	W>*		No	ClinGen TOPMed
rs368352338 CA315913713	498	M>I		No	ClinGen ESP TOPMed
rs1160200211 CA409328899	501	Q>H		No	ClinGen TOPMed
rs1378690091 CA409328912	502	T>S		No	ClinGen gnomAD
CA409328947 rs1159302019	504	T>M		No	ClinGen gnomAD
CA409328944 rs1159302019	504	T>R		No	ClinGen gnomAD
CA315914064 rs143277734	510	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000500189 rs143277734 CA9898424	510	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1182878781 CA409329264	512	C>R		No	ClinGen TOPMed
TCGA novel	516	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779424947 CA9898426	517	Y>F		No	ClinGen ExAC gnomAD
rs779424947 CA409329374	517	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	518	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315914076 rs945870249	519	N>K		No	ClinGen Ensembl
CA315914080 rs112869617	521	D>G		No	ClinGen Ensembl
CA9898427 rs746712724	525	N>D		No	ClinGen ExAC gnomAD
CA9898428 rs768170821 COSM3939391	525	N>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9898429 rs777154927	526	A>V		No	ClinGen ExAC gnomAD
rs1322615138 CA409329575	527	A>T		No	ClinGen TOPMed gnomAD
VAR_028750 CA9898430 rs6063343	527	A>V		No	ClinGen UniProt ExAC dbSNP gnomAD
rs371569595 CA9898432	529	I>M		No	ClinGen ESP ExAC gnomAD
TCGA novel	530	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315914083 rs867291488	533	L>F		No	ClinGen Ensembl
rs1204077422 CA409329709	534	V>L		No	ClinGen TOPMed
rs986288018 CA315914089	535	N>S		No	ClinGen TOPMed
rs1256511682 CA409329801	538	S>P		No	ClinGen gnomAD
rs771113041 CA9898434	539	K>E		No	ClinGen ExAC gnomAD
rs1199443037 CA409329858	541	A>V		No	ClinGen TOPMed gnomAD
CA315914094 rs747608353	545	S>N		No	ClinGen Ensembl
rs759855002 CA9898436	547	H>R		No	ClinGen ExAC gnomAD
CA315914104 rs148597936	551	M>V		No	ClinGen ESP TOPMed
CA9898437 rs776706357	552	T>I		No	ClinGen ExAC gnomAD
rs765174402 CA9898439	555	Q>*		No	ClinGen ExAC gnomAD
CA409330306 rs1568715498	557	L>F		No	ClinGen Ensembl
CA409330337 rs1303066501	560	R>M		No	ClinGen gnomAD
rs1322367764 CA409330413	565	E>A		No	ClinGen gnomAD
CA9898451 rs774513004	566	C>G		No	ClinGen ExAC
rs1555810703 CA409330474 RCV000502448	568	V>M		No	ClinGen ClinVar Ensembl dbSNP
rs1342900252 CA409330540	572	K>N		No	ClinGen gnomAD
rs1299569776 CA409330537	572	K>R		No	ClinGen gnomAD
CA9898453 rs772288924	574	M>V		No	ClinGen ExAC gnomAD
CA409330599 rs1471441093	575	V>A		No	ClinGen TOPMed
CA9898454 rs775633250	581	L>P		No	ClinGen ExAC gnomAD
rs1235624378 CA409330750	581	L>V		No	ClinGen gnomAD
CA315914720 rs1011689601	584	N>S		No	ClinGen TOPMed
CA409330898 rs1488096399	589	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs750196541 CA9898457	590	S>G		No	ClinGen ExAC gnomAD
rs375607415 CA315915167	592	G>A		No	ClinGen ESP TOPMed gnomAD
rs375607415 CA409331641	592	G>D		No	ClinGen ESP TOPMed gnomAD
CA9898480 rs774210100	593	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs759544514 CA9898481	594	E>G		No	ClinGen ExAC gnomAD
CA9898483 rs752237361	597	T>M		No	ClinGen ExAC gnomAD
rs763800092 CA9898485	600	E>K		No	ClinGen ExAC TOPMed gnomAD
CA409331780 rs1222258036	601	I>T		No	ClinGen gnomAD
TCGA novel	602	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409331814 rs1600626622	603	D>G		No	ClinGen Ensembl
CA409331803 rs1278784060	603	D>N		No	ClinGen TOPMed
CA9898487 rs757508758	604	G>A		No	ClinGen ExAC gnomAD
CA409331838 rs1568716295	605	K>R		No	ClinGen Ensembl
CA9898488 rs202211324	608	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9898489 rs202211324	608	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1297321207 CA409331893	609	M>I		No	ClinGen TOPMed
CA9898490 rs758879263	611	R>G		No	ClinGen ExAC gnomAD
CA9898491 rs780130369	612	R>Q		No	ClinGen ExAC gnomAD
CA409331960 rs1162647954	613	C>R		No	ClinGen Ensembl
rs201912963 CA9898492	613	C>Y		No	ClinGen ExAC gnomAD
CA9898493 rs768867078	614	S>N		No	ClinGen ExAC TOPMed gnomAD
CA9898494 rs372837655	615	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9898495 rs748386696	616	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9898496 rs770695413	617	S>T		No	ClinGen ExAC TOPMed gnomAD
CA9898497 rs774168472	618	M>V		No	ClinGen ExAC gnomAD
TCGA novel	619	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898499 rs759599298	620	S>F		No	ClinGen ExAC gnomAD
rs1308531502 CA409332187	622	V>G		No	ClinGen gnomAD
CA409332162 rs1389257605	622	V>L		No	ClinGen TOPMed
CA315915196 rs139739377	623	S>C		No	ClinGen ESP TOPMed gnomAD
CA9898502 rs760196945	624	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1238631497 CA409332358	628	T>K		No	ClinGen TOPMed gnomAD
rs143717062 CA9898504	629	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA409332383 rs1192370390	629	T>S		No	ClinGen gnomAD
rs900228147 CA315915207	631	Q>K		No	ClinGen TOPMed gnomAD
rs1173241627 CA409332523	633	D>E		No	ClinGen gnomAD
rs765568489 CA409332532	634	P>A		No	ClinGen ExAC gnomAD
rs765568489 CA9898505	634	P>S		No	ClinGen ExAC gnomAD
rs758934579 CA9898507	636	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	637	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898508 rs780468795	641	K>R		No	ClinGen ExAC gnomAD
CA9898509 rs747100936	643	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1227456402 CA409332856	646	I>N		No	ClinGen TOPMed
rs1297707139 CA409332849	646	I>V		No	ClinGen TOPMed gnomAD
CA315915219 rs377388128	647	I>V		No	ClinGen ESP TOPMed
rs1314191280 CA409332949	649	H>R		No	ClinGen TOPMed
rs201921329 CA9898511	650	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409332984 rs1278566295	651	I>V		No	ClinGen gnomAD
CA409333026 rs1217052185	652	E>K		No	ClinGen TOPMed gnomAD
rs777989316 CA9898531	655	N>S		No	ClinGen ExAC TOPMed gnomAD
rs745672474 CA9898532	656	K>R		No	ClinGen ExAC gnomAD
CA315880076 rs1043554079	657	K>R		No	ClinGen TOPMed gnomAD
rs772051446 RCV000194901 CA209372	660	R>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs772051446 CA9898533	660	R>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	662	I>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	662	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403580482 CA409303891	663	Q>H		No	ClinGen gnomAD
rs1325223579 CA409303923	666	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	669	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144227832 RCV000430175 CA315880099 CA9898536	670	M>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA206109 rs373933885 RCV000991544 RCV000192944	672	G>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9898537 rs761318717	673	T>K		No	ClinGen ExAC TOPMed gnomAD
CA409304025 rs761318717	673	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762586847 CA9898540	675	V>A		No	ClinGen ExAC TOPMed gnomAD
rs772904648 CA409304045	675	V>F		No	ClinGen ExAC TOPMed gnomAD
rs772904648 CA9898539	675	V>L		No	ClinGen ExAC TOPMed gnomAD
CA315880127 rs902848348 COSM443980	676	E>K	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA409304072 rs1292390703	677	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	678	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315880134 rs896448750	679	A>T		No	ClinGen Ensembl
CA409304113 rs1469198321	680	Q>H		No	ClinGen gnomAD
TCGA novel	684	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315880140 rs549850854	684	Q>R		No	ClinGen Ensembl
TCGA novel	686	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468708775 CA409304234	689	D>A		No	ClinGen TOPMed
rs759881622 CA9898561	695	D>N		No	ClinGen ExAC gnomAD
rs1378274144 CA409304370	699	D>E		No	ClinGen TOPMed
CA409304364 rs1241350993	699	D>N		No	ClinGen TOPMed
CA409304376 rs767927598	700	S>N		No	ClinGen ExAC gnomAD
rs767927598 CA9898562	700	S>T		No	ClinGen ExAC gnomAD
rs201298117 CA315880628	701	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9898564 RCV001288788 rs201298117	701	A>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA409304383 rs1276653314	702	R>G		No	ClinGen gnomAD
CA16608379 RCV000428512 rs1057522261	702	R>S		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	702	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764311308 CA409304401	704	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9898565 rs764311308	704	N>T		No	ClinGen ExAC TOPMed gnomAD
CA409304417 CA9898567 rs202169231	706	E>D		No	ClinGen ExAC TOPMed gnomAD
rs753947672 CA9898566	706	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	706	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409304441 rs1181657882	710	A>T		No	ClinGen gnomAD
CA409304455 rs965578352	712	V>L		No	ClinGen TOPMed gnomAD
CA315880661 rs965578352	712	V>M		No	ClinGen TOPMed gnomAD
rs375953627 CA315880667	718	C>R		No	ClinGen ESP
CA409304537 rs1394371928	723	V>I		No	ClinGen TOPMed
rs1191428579 CA409304562	727	R>Q		No	ClinGen TOPMed gnomAD
rs748153736 CA9898572	731	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1034727363 CA315880691	734	R>C		No	ClinGen gnomAD
rs1375537095 CA409304607	734	R>H		No	ClinGen TOPMed gnomAD
CA409304655 rs1352414182	741	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9898574 rs777290585	744	R>L		No	ClinGen ExAC gnomAD
CA409304674 rs777290585	744	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409304685 rs1296900936	746	M>V		No	ClinGen gnomAD
TCGA novel	749	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs542066920 CA9898577	754	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs772555441 CA9898578	758	Q>E		No	ClinGen ExAC gnomAD
rs775687427 CA9898579	759	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9898603 rs763256205	760	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1284693747 CA409305057	764	A>T		No	ClinGen TOPMed
rs752544916 CA409305075	765	S>N		No	ClinGen ExAC TOPMed gnomAD
rs752544916 CA9898605	765	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1600636494 CA409305115	768	T>S		No	ClinGen Ensembl
COSM577863 CA409305153 rs1367236691	771	V>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs562272956 CA9898608	773	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM189792 CA9898607 rs562272956	773	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs778535298 CA9898610	777	I>V		No	ClinGen ExAC gnomAD
CA9898611 rs749854332	779	L>P		No	ClinGen ExAC gnomAD
rs1242482253 CA409305273	781	T>P		No	ClinGen gnomAD
CA409305292 rs1227615565	782	D>A		No	ClinGen gnomAD
TCGA novel	789	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373814309 CA9898630	789	K>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	790	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1600636656 CA409305449	790	N>S		No	ClinGen Ensembl
VAR_036156	794	K>E	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs550947400 CA9898633	795	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	796	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377485352 CA9898634	798	I>V		No	ClinGen ESP ExAC gnomAD
CA9898635 rs754655353	799	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9898636 rs781706750	801	N>S		No	ClinGen ExAC gnomAD
VAR_069404 CA9898637 rs748482139	802	R>Q		No	ClinGen UniProt ExAC dbSNP gnomAD
CA409305624 rs1390031598 COSM1027687	802	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1600636701 CA920226647	803	G>*		No	ClinGen Ensembl
CA9898639 rs371043044	803	G>C		No	ClinGen ESP ExAC gnomAD
CA409305655 rs1474622939	805	N>I		No	ClinGen gnomAD
CA409305657 rs1474622939	805	N>S		No	ClinGen gnomAD
rs975042360 CA315882776	806	D>Y		No	ClinGen TOPMed
rs770983635 CA9898641	808	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1377360405 CA409305716	811	P>L		No	ClinGen gnomAD
rs746141031 CA9898643	812	E>D		No	ClinGen ExAC TOPMed gnomAD
rs774388240 CA9898642	812	E>G		No	ClinGen ExAC gnomAD
rs1568723678 CA409305747	814	Y>C		No	ClinGen Ensembl
CA315882820 rs1047816435	819	Y>C		No	ClinGen TOPMed gnomAD
rs1217152049 CA409305820	820	E>D		No	ClinGen TOPMed gnomAD
rs1600636781 CA409305855	824	G>C		No	ClinGen Ensembl
rs1470002981 CA409305887	828	A>V		No	ClinGen TOPMed
CA409305928 rs1600636793	833	K>E		No	ClinGen Ensembl
rs773087244 CA9898648	834	E>D		No	ClinGen ExAC gnomAD
rs201993253 CA9898650	836	T>M		No	ClinGen ExAC gnomAD
CA9898653 rs767210670	839	T>A		No	ClinGen ExAC gnomAD
rs200061894 CA315882860	839	T>I		No	ClinGen gnomAD
rs200061894 CA409305993	839	T>S		No	ClinGen gnomAD
rs778195883 CA9898656	844	Q>E		No	ClinGen ExAC gnomAD
CA409306050 rs1167773290	844	Q>H		No	ClinGen TOPMed
rs375786927 CA9898681	848	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1038146807 CA315883590	852	R>Q		No	ClinGen TOPMed gnomAD
rs1335667047 CA409306183	852	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777458673 CA9898685	857	N>D		No	ClinGen ExAC gnomAD
rs749044574 CA9898686	858	L>F		No	ClinGen ExAC gnomAD
rs1166766265 CA409306259	860	M>V		No	ClinGen gnomAD
TCGA novel	861	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898688 rs774489732	863	M>I		No	ClinGen ExAC gnomAD
CA9898689 rs759544117	864	A>S		No	ClinGen ExAC gnomAD
TCGA novel	864	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409306345 rs1398266161	865	K>E		No	ClinGen gnomAD
CA315883605 rs866758540	866	T>K		No	ClinGen Ensembl
CA9898690 rs771749116	867	A>S		No	ClinGen ExAC gnomAD
CA315883619 rs1011123963	871	M>L		No	ClinGen Ensembl
rs1355324857 CA409306574	878	K>N		No	ClinGen gnomAD
TCGA novel	879	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000116392 CA230892 rs183852730	880	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1023565403 CA315883625	880	P>S		No	ClinGen TOPMed
TCGA novel	882	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762109752 CA9898694	886	H>N		No	ClinGen ExAC gnomAD
CA409306692 rs201685748	886	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA409306676 rs1249833286	886	H>R		No	ClinGen gnomAD
CA409306755 rs1278034398	890	V>A		No	ClinGen gnomAD
rs1484627377 CA409306760	891	R>W	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750966122 CA9898696	893	M>V		No	ClinGen ExAC TOPMed gnomAD
CA315883677 rs1010372982	895	K>R		No	ClinGen TOPMed
CA9898721 rs778874771	899	T>A		No	ClinGen ExAC TOPMed gnomAD
CA9898723 rs745621774	899	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9898722 rs745621774	899	T>R		No	ClinGen ExAC gnomAD
CA315883898 rs778874771	899	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	900	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	901	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	903	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174925065 CA409307004	904	A>T		No	ClinGen gnomAD
CA409307019 rs1236557851	906	S>G		No	ClinGen gnomAD
rs768250101 CA9898726	908	G>R		No	ClinGen ExAC gnomAD
rs1250723835 CA409307228	920	L>S		No	ClinGen gnomAD
rs1600637612 CA409307322	925	I>T		No	ClinGen Ensembl
rs1320731501 CA409307313	925	I>V		No	ClinGen TOPMed
CA9898730 rs773569365	926	R>G		No	ClinGen ExAC gnomAD
COSM3423704 rs763245062 CA9898731 RCV000437482	926	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs766636734 CA9898732	927	C>S		No	ClinGen ExAC gnomAD
CA409307345 rs1157539723	927	C>Y		No	ClinGen gnomAD
rs546454517 CA9898733	929	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9898734 rs200505747	930	R>Q		No	ClinGen ExAC gnomAD
rs571537729 CA9898735	931	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA409307431 rs199594681	932	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199594681 CA9898737	932	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1326579827 CA409307439	932	A>V		No	ClinGen gnomAD
rs750753933 CA9898738	933	C>S		No	ClinGen ExAC TOPMed gnomAD
rs750753933 CA315883981	933	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1309058613 CA409307466	934	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA409307497 rs1232437536	936	G>R		No	ClinGen gnomAD
rs1184727853 CA409307512	938	Q>K		No	ClinGen TOPMed
rs754943500 CA9898759	940	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	941	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1600638623 CA409308136 COSM1681742	941	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs377633144 CA315884982	942	D>G		No	ClinGen Ensembl
TCGA novel	942	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898760 rs781049193	943	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1426987955 CA409308174	947	A>S		No	ClinGen gnomAD
rs1172573484 CA409308177	947	A>V		No	ClinGen gnomAD
TCGA novel	948	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1027395503 CA315885003	949	A>S		No	ClinGen Ensembl
rs1355193386 COSM1412307 CA409308188	949	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs912572475 CA315885015	950	R>C		No	ClinGen Ensembl
rs1351076874 CA409308191	950	R>H		No	ClinGen TOPMed
rs1415147091 CA409308215	954	L>F		No	ClinGen gnomAD
CA409308222 rs1282599289	955	T>I		No	ClinGen TOPMed
CA315885031 rs953710086	955	T>P		No	ClinGen Ensembl
CA409308232 rs1269398189	957	S>C		No	ClinGen gnomAD
CA9898764 rs749020227	960	I>V		No	ClinGen ExAC gnomAD
CA409308267 rs1392618389	962	E>G		No	ClinGen TOPMed
CA315885040 rs748951554	963	M>V		No	ClinGen Ensembl
rs944092192 CA315885048	969	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA409308335 rs1486971422	971	I>T		No	ClinGen gnomAD
CA9898767 rs746156078	971	I>V		No	ClinGen ExAC gnomAD
CA9898768 rs772651428	973	T>M		No	ClinGen ExAC TOPMed gnomAD
rs536501506 CA9898770	974	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1413276546 CA409308356	975	I>F		No	ClinGen TOPMed
rs1188522339 CA409308361	975	I>S		No	ClinGen gnomAD
CA9898772 rs776800819	977	V>A		No	ClinGen ExAC gnomAD
rs1171903040 CA409308382	979	H>Y		No	ClinGen gnomAD
CA9898774 rs765305868	981	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1317287644 CA409308404	982	G>D		No	ClinGen gnomAD
CA315885123 rs778887352	984	Y>H		No	ClinGen Ensembl
rs1040256261 CA315885132	988	S>F		No	ClinGen TOPMed
CA409308453 rs1343225349	989	W>*		No	ClinGen gnomAD
rs1289080009 CA409308460	990	H>L		No	ClinGen gnomAD
CA409308456 rs1432703559	990	H>Y		No	ClinGen gnomAD
TCGA novel	995	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016255824 CA315887652	996	I>V		No	ClinGen TOPMed gnomAD
rs184784782 CA315887657	998	Q>L		No	ClinGen 1000Genomes
rs1416907001 CA409310260	1002	A>S		No	ClinGen gnomAD
CA409310262 rs1416907001	1002	A>T		No	ClinGen gnomAD
CA409310330 rs1192390709	1007	T>N		No	ClinGen TOPMed
rs763952872 CA9898798	1008	G>A		No	ClinGen ExAC gnomAD
rs763952872 CA409310346	1008	G>D		No	ClinGen ExAC gnomAD
CA315887705 rs923421906 RCV000502161	1008	G>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1326305342 CA409310348	1009	V>L		No	ClinGen gnomAD
CA9898800 rs756780073	1011	T>A		No	ClinGen ExAC gnomAD
rs138319848 CA9898801	1011	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs138319848 CA409310374	1011	T>R		No	ClinGen ESP ExAC gnomAD
rs758071330 CA409310382	1012	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1732237 rs780594033 CA9898804	1012	R>H	bone [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758071330 CA9898803	1012	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1357379635 CA409310393	1013	Y>C		No	ClinGen gnomAD
rs1357379635 CA409310397	1013	Y>F		No	ClinGen gnomAD
rs1205806370 CA409310443	1017	S>C		No	ClinGen gnomAD
TCGA novel	1017	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315887793 rs748682883	1019	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748682883 CA9898808	1019	R>S		No	ClinGen ExAC TOPMed gnomAD
rs773319245 CA9898810	1022	E>K		No	ClinGen ExAC gnomAD
rs749536127 CA9898811	1023	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1361898202 CA409310526	1024	S>T		No	ClinGen TOPMed
CA9898813 rs775271126	1027	G>C		No	ClinGen ExAC gnomAD
CA409310552 rs1429895835	1027	G>D		No	ClinGen gnomAD
rs760406286 CA9898814	1029	T>P		No	ClinGen ExAC gnomAD
rs1244186676 CA409310568	1030	L>M		No	ClinGen gnomAD
CA409310577 rs1336585074	1031	A>S		No	ClinGen TOPMed gnomAD
rs1336585074 CA409310575	1031	A>T		No	ClinGen TOPMed gnomAD
rs569633405 CA9898817	1033	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1600641125 CA409310604	1035	F>V		No	ClinGen Ensembl
rs749905295 CA9898819	1036	M>L		No	ClinGen ExAC gnomAD
RCV000497319 CA9898820 rs758124206	1036	M>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs749905295 CA409310611	1036	M>V		No	ClinGen ExAC gnomAD
RCV002527196 CA9898821 RCV000502919 rs766069204	1038	L>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA315887855 rs1043583190	1038	L>P		No	ClinGen TOPMed
RCV000503922 rs537313958 COSM1027699 CA9898823	1041	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs148770948 CA9898845	1043	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA315888952 rs765622958	1043	L>W		No	ClinGen Ensembl
CA9898846 rs757397747	1045	S>R		No	ClinGen ExAC gnomAD
rs1157243819 CA409310764	1046	G>S		No	ClinGen gnomAD
CA409310775 rs1457968586	1047	G>R		No	ClinGen TOPMed gnomAD
CA409310798 rs1600641988	1048	V>G		No	ClinGen Ensembl
TCGA novel	1050	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1050	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898848 rs746141039	1054	A>T		No	ClinGen ExAC gnomAD
rs772292207 CA9898849	1054	A>V		No	ClinGen ExAC TOPMed gnomAD
RCV000438084 rs1057520166 CA16603306	1057	Q>*		No	ClinGen ClinVar TOPMed dbSNP
rs780849949 CA9898850	1057	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	1058	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409310942 rs1317866404	1058	E>V		No	ClinGen TOPMed
rs1568727884 CA409311135	1064	S>R		No	ClinGen Ensembl
rs369914012 CA9898853	1065	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9898855 rs759142089	1066	Q>R		No	ClinGen ExAC gnomAD
CA409311271 rs1600642047	1067	S>R		No	ClinGen Ensembl
CA409311292 rs1600642056	1068	V>G		No	ClinGen Ensembl
CA409311305 rs1600642060	1069	V>G		No	ClinGen Ensembl
rs767131745 CA9898856	1072	V>M		No	ClinGen ExAC gnomAD
CA409311895 rs1419028252	1074	R>G		No	ClinGen gnomAD
TCGA novel	1074	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1075	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898873 rs745325323	1077	T>S		No	ClinGen ExAC gnomAD
CA409312778 rs1309774912	1078	G>V		No	ClinGen gnomAD
rs1228837691 CA409312794	1079	S>A		No	ClinGen TOPMed
CA9898875 rs771471974	1080	T>A		No	ClinGen ExAC TOPMed gnomAD
rs771471974 CA9898874	1080	T>S		No	ClinGen ExAC TOPMed gnomAD
CA9898876 rs760217592	1085	N>S		No	ClinGen ExAC TOPMed gnomAD
rs764494681 CA9898877	1086	A>G		No	ClinGen ExAC gnomAD
rs951654073 CA315890985	1087	I>V		No	ClinGen TOPMed gnomAD
rs151045115 CA315891121	1092	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325196204 CA409313388	1098	S>P		No	ClinGen TOPMed
CA315891162 rs370604835	1099	M>K		No	ClinGen ESP
CA315891151 rs907308395	1099	M>V		No	ClinGen TOPMed
rs776990168 CA9898894	1100	D>V		No	ClinGen ExAC TOPMed gnomAD
CA9898896 rs765579597	1104	S>F		No	ClinGen ExAC gnomAD
CA409313566 rs1600643985	1105	P>A		No	ClinGen Ensembl
rs773805869 CA9898897	1106	H>N		No	ClinGen ExAC TOPMed gnomAD
rs763345479 CA9898898	1106	H>P		No	ClinGen ExAC gnomAD
CA409313600 rs374285087	1106	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs763345479 CA9898899	1106	H>R		No	ClinGen ExAC gnomAD
CA409313587 rs773805869	1106	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs182494903 CA9898901	1108	P>A		No	ClinGen 1000Genomes ExAC gnomAD
RCV000438557 CA9898902 rs767791225	1108	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA315891216 rs866319620 COSM1183336	1109	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9898903 rs752955081	1109	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750426526 CA409313950	1116	I>M		No	ClinGen ExAC TOPMed gnomAD
rs758222891 CA9898907	1119	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1121	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs966972955 CA315891245	1125	N>I		No	ClinGen Ensembl
CA315891269 rs1000781606	1134	I>V		No	ClinGen Ensembl
CA9898911 rs780885728	1140	D>E		No	ClinGen ExAC gnomAD
TCGA novel	1141	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280871412 CA409314721	1143	N>D		No	ClinGen gnomAD
rs772329530 CA315896140	1149	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772329530 CA9898948	1149	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1352291536 CA409316403	1151	E>G		No	ClinGen TOPMed
rs1394719112 CA409316419	1152	D>N		No	ClinGen gnomAD
CA409316471 rs1341350197	1154	A>S		No	ClinGen gnomAD
CA409316489 rs141326036	1155	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9898951 rs141326036	1155	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA315896147 rs75553836	1157	A>S		No	ClinGen Ensembl
CA9898952 rs773077638	1158	V>I		No	ClinGen ExAC gnomAD
CA9898953 rs200389766	1159	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1327900585 CA409316741	1166	M>R		No	ClinGen Ensembl
rs1278825617 CA409316733	1166	M>V		No	ClinGen gnomAD
CA409316871 rs1402821056	1172	G>D		No	ClinGen TOPMed
CA9898958 rs563646954	1175	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA9898960 rs777348579	1178	R>C		No	ClinGen ExAC gnomAD
CA9898961 rs748965329 COSM1027703	1178	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs777348579 CA315896242	1178	R>S		No	ClinGen ExAC gnomAD
rs1352614318 CA409317100	1187	F>V		No	ClinGen Ensembl
rs147582953 CA9898962	1189	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA409317145 rs1189770046	1189	H>Y		No	ClinGen gnomAD
rs970880832 CA315896258	1190	I>T		No	ClinGen Ensembl
rs199663964 CA315896268	1191	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	1192	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409317248 rs1363292551	1193	K>I		No	ClinGen TOPMed
CA409317277 rs1174701950	1195	R>G		No	ClinGen gnomAD
TCGA novel	1197	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9898990 rs774144910	1197	P>S		No	ClinGen ExAC gnomAD
RCV000503049 CA409320286 rs1212143011	1198	T>I		No	ClinGen ClinVar dbSNP gnomAD
CA409320279 rs1600542292	1198	T>P		No	ClinGen Ensembl
rs999187279 CA315901326	1199	I>T		No	ClinGen TOPMed
rs1180535589 CA409320355	1200	R>Q		No	ClinGen TOPMed gnomAD
CA9898992 rs760655501	1200	R>W		No	ClinGen ExAC gnomAD
CA9898993 rs775447075	1201	D>N		No	ClinGen ExAC gnomAD
CA9898994 rs760639976 COSM1027705	1203	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9898996 rs753350616	1205	R>C		No	ClinGen ExAC TOPMed gnomAD
CA315901368 rs937998574	1205	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM3389815 CA315901383 rs773301479	1208	A>D	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1055068959 CA315901376	1208	A>S		No	ClinGen TOPMed
CA9898997 rs566135657	1209	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1350655703 CA409320715	1210	M>I		No	ClinGen gnomAD
CA9898999 rs758904830	1210	M>V		No	ClinGen ExAC gnomAD
CA9899000 rs780540626	1211	V>M		No	ClinGen ExAC gnomAD
CA315901417 rs917983356	1213	S>Y		No	ClinGen Ensembl
rs752023536 CA9899001	1215	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9899003 rs769315845	1217	N>S		No	ClinGen ExAC TOPMed gnomAD
CA409320930 rs769315845	1217	N>T		No	ClinGen ExAC TOPMed gnomAD
CA9899005 rs769842728	1219	R>H		No	ClinGen ExAC gnomAD
rs1181492172 CA409321135	1225	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775296325 CA9899008	1228	V>M		No	ClinGen ExAC TOPMed gnomAD
rs760532505 CA9899009	1230	H>R		No	ClinGen ExAC gnomAD
CA315901516 rs534505410	1231	Q>E		No	ClinGen Ensembl
CA9899010 rs768595731	1231	Q>R		No	ClinGen ExAC gnomAD
CA409321331 rs1170184640	1235	D>H		No	ClinGen gnomAD
RCV000193366 CA206804 rs369727237	1236	H>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA409321355 rs369727237	1236	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9899013 rs750162391	1238	G>A		No	ClinGen ExAC gnomAD
rs766857408 CA9899015	1241	V>L		No	ClinGen ExAC
CA409321497 rs1396061818	1242	E>D		No	ClinGen TOPMed gnomAD
CA409321573 rs1600542540	1246	Q>R		No	ClinGen Ensembl
CA315901548 rs1045535421	1248	T>S		No	ClinGen gnomAD
CA9899016 rs199510566	1248	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1308414756 CA409321613	1249	C>S		No	ClinGen gnomAD
rs570016433 CA9899018	1251	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs766010319 CA9899034	1254	T>I		No	ClinGen ExAC gnomAD
CA9899036 rs759985917	1255	I>T		No	ClinGen ExAC gnomAD
rs143009676 CA9899035	1255	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480677503 CA409321961	1256	F>S		No	ClinGen gnomAD
rs1255202813 CA409321972	1257	Q>*		No	ClinGen gnomAD
rs1487149640 CA409322024	1259	H>R		No	ClinGen TOPMed
rs376819444 CA9899037	1261	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9899038 rs753305440	1263	A>T		No	ClinGen ExAC gnomAD
rs756554552 CA9899039	1264	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1265	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899041 rs753872438	1266	S>A		No	ClinGen ExAC gnomAD
rs1436410177 CA409322126	1266	S>C		No	ClinGen gnomAD
rs757491379 CA9899042 COSM1027709	1270	A>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9899044 rs746043194	1273	C>F		No	ClinGen ExAC gnomAD
CA9899043 rs779241429	1273	C>S		No	ClinGen ExAC gnomAD
CA9899045 rs754864724	1274	L>F		No	ClinGen ExAC gnomAD
CA409322261 rs1223753023	1276	E>Q		No	ClinGen TOPMed
rs1568737012 CA9899049	1278	A>DHLPHCQ*		No	ClinGen Ensembl
rs1285055942 CA9899050	1278	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409322304 rs1172050685	1278	A>V		No	ClinGen TOPMed gnomAD
CA409322314 rs1451163097	1279	C>S		No	ClinGen gnomAD
CA409322326 rs1219271974	1280	N>D		No	ClinGen gnomAD
rs769816652 CA9899053	1281	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9899052 rs769816652	1281	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9899054 rs770317385	1282	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1473370799 CA409322374	1283	F>C		No	ClinGen gnomAD
CA409322397 rs1445614260	1284	P>R		No	ClinGen TOPMed
CA9899055 rs774121482	1286	T>M		No	ClinGen ExAC gnomAD
rs774121482 CA409322425	1286	T>R		No	ClinGen ExAC gnomAD
rs1470431225 CA409322448 RCV000598000	1288	M>V		No	ClinGen ClinVar TOPMed dbSNP
rs767937591 CA9899057	1290	A>V		No	ClinGen ExAC gnomAD
CA9899059 rs761201261	1291	I>T		No	ClinGen ExAC gnomAD
rs754318827 CA9899061	1292	R>Q		No	ClinGen ExAC gnomAD
CA9899060 rs764533856	1292	R>W		No	ClinGen ExAC gnomAD
rs757395043 CA9899062	1293	L>P		No	ClinGen ExAC gnomAD
rs1355687781 RCV000499641 CA409322537	1295	R>C		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA409322538 rs150273470 COSM1027713	1295	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA315903242 rs150273470	1295	R>L		No	ClinGen ESP TOPMed gnomAD
CA409322564 rs1291874161	1296	F>S		No	ClinGen gnomAD
CA9899064 rs758487125	1298	G>D		No	ClinGen ExAC TOPMed gnomAD
rs752495010 CA9899066	1299	K>N		No	ClinGen ExAC gnomAD
rs781075417 CA9899065	1299	K>R		No	ClinGen ExAC gnomAD
CA9899069 rs200097694	1301	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9899068 rs777898909	1301	V>I		No	ClinGen ExAC TOPMed gnomAD
rs199964803 CA9899070	1303	E>G		No	ClinGen ESP ExAC gnomAD
rs542819649 CA409322711	1304	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA315903294 rs1039724431	1306	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9899072 rs371146257	1306	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs780901142 CA9899092	1312	T>K		No	ClinGen ExAC gnomAD
rs1197127784 CA409323352	1313	S>N		No	ClinGen TOPMed
TCGA novel	1315	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1316	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409323394 rs1342370443	1316	M>V		No	ClinGen gnomAD
rs797045257 RCV000194473 CA208657	1321	G>S		No	ClinGen ClinVar Ensembl dbSNP
CA409323438 rs1267748309	1322	D>N		No	ClinGen TOPMed
rs1204395185 CA409323482	1325	W>*		No	ClinGen TOPMed
TCGA novel	1325	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409323494 rs1263411905	1326	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1327	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899093 rs771587053	1327	R>Q		No	ClinGen ExAC gnomAD
rs779719987 CA9899094	1328	G>A		No	ClinGen ExAC gnomAD
rs746657787 CA9899095	1332	I>L		No	ClinGen ExAC gnomAD
rs1449237414 CA409323580	1333	L>F		No	ClinGen gnomAD
TCGA novel	1335	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899096 rs374632843 RCV000436139	1335	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA409323617 rs1230479686	1336	L>V		No	ClinGen TOPMed
rs369847284 CA9899097	1337	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA315904512 rs367961999	1337	S>P		No	ClinGen ESP TOPMed
rs762417574 CA9899098	1339	I>L		No	ClinGen ExAC gnomAD
rs770155650 CA409323683	1341	N>I		No	ClinGen ExAC gnomAD
rs770155650 CA9899099	1341	N>S		No	ClinGen ExAC gnomAD
CA9899100 rs773748754	1342	R>S		No	ClinGen ExAC gnomAD
TCGA novel	1343	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA315904523 rs996245590	1347	V>I		No	ClinGen TOPMed
CA409323801 rs1386969246	1349	T>A		No	ClinGen gnomAD
CA409323869 rs1600546185	1350	R>S		No	ClinGen Ensembl
TCGA novel	1350	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749791242 CA9899118	1353	T>I		No	ClinGen ExAC gnomAD
RCV001009223 rs1600546214	1354	V>missing		No	ClinVar dbSNP
rs1316955568 CA409323906	1354	V>I		No	ClinGen gnomAD
rs774506095 CA9899120	1355	M>T		No	ClinGen ExAC gnomAD
CA409323965 rs1357969958	1357	E>D		No	ClinGen gnomAD
rs1225103038 CA409323972	1358	I>V		No	ClinGen gnomAD
CA409323995 rs1334116229	1359	M>T		No	ClinGen TOPMed
rs1415618208 CA409324028	1361	S>G		No	ClinGen TOPMed
rs759867790 CA9899121	1361	S>N		No	ClinGen ExAC gnomAD
CA409324046 rs1482968668	1362	Y>C		No	ClinGen TOPMed gnomAD
rs1460431406 CA409324093	1364	H>Q		No	ClinGen TOPMed
CA409324091 rs1419695432 COSM359701	1364	H>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409324087 rs1252981301	1364	H>Y		No	ClinGen gnomAD
rs369193549 CA9899124	1365	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9899123 rs369193549	1365	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9899127 rs765874625	1378	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409324453 rs587780280	1379	F>C		No	ClinGen ExAC gnomAD
CA9899128 rs573211337	1379	F>I		No	ClinGen 1000Genomes ExAC gnomAD
RCV000116404 CA230898 rs587780280	1379	F>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA9899130 rs202242624 COSM1027715	1380	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9899129 rs780749916	1380	R>W		No	ClinGen ExAC TOPMed gnomAD
CA409324557 rs1195692916	1382	F>V		No	ClinGen TOPMed
CA9899133 rs145745338	1386	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs980052482 CA315904850	1389	E>A		No	ClinGen Ensembl
CA9899134 rs374177628	1389	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9899135 rs774595647	1390	Q>H		No	ClinGen ExAC gnomAD
rs772245839 CA9899137	1392	S>*		No	ClinGen ExAC TOPMed gnomAD
rs745991700 CA9899136	1392	S>P		No	ClinGen ExAC gnomAD
CA409326132 rs1429340166	1397	W>L		No	ClinGen TOPMed
rs1363893921 CA409326140	1398	M>V		No	ClinGen gnomAD
COSM1283472 CA409326153 rs1394516987	1399	T>A	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1435867959 CA409326161	1399	T>I		No	ClinGen TOPMed gnomAD
rs1435867959 CA409326159	1399	T>R		No	ClinGen TOPMed gnomAD
CA409326155 rs1394516987	1399	T>S		No	ClinGen TOPMed
CA9899156 rs747196156	1401	T>I		No	ClinGen ExAC gnomAD
rs768879754 CA9899157	1402	C>F		No	ClinGen ExAC gnomAD
CA9899158 rs776699871	1403	N>S		No	ClinGen ExAC gnomAD
CA409326219 rs376257322	1404	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1430999905 COSM1245314 CA409326223	1405	A>T	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA409326239 rs1469827786	1405	A>V		No	ClinGen gnomAD
CA409326255 rs1319305357	1407	Y>H		No	ClinGen TOPMed gnomAD
CA409326286 rs1476501927	1408	A>T		No	ClinGen TOPMed
CA409326323 rs1429219989	1409	I>F		No	ClinGen gnomAD
rs1429219989 CA409326295	1409	I>L		No	ClinGen gnomAD
rs770711126 CA9899160	1411	D>G		No	ClinGen ExAC gnomAD
TCGA novel	1413	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219069402 CA409326562	1417	Y>F		No	ClinGen gnomAD
CA409326700 rs1274609562	1422	E>A		No	ClinGen TOPMed
rs943907079 CA315910661	1424	L>F		No	ClinGen TOPMed
TCGA novel	1424	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899161 rs774333258	1427	D>E		No	ClinGen ExAC gnomAD
CA9899162 rs759412939	1428	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409326842 rs1224155930	1429	F>C		No	ClinGen TOPMed gnomAD
COSM1165638 CA409326862 rs1267608963	1430	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1010086911 CA315910674	1432	L>F		No	ClinGen gnomAD
rs144201853 CA9899166	1433	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs752211996 CA9899164	1433	Q>L		No	ClinGen ExAC gnomAD
rs752211996 CA409326936	1433	Q>P		No	ClinGen ExAC gnomAD
rs904453328 CA315910695	1435	C>Y		No	ClinGen TOPMed gnomAD
CA409327059 rs1600548565	1436	V>A		No	ClinGen Ensembl
rs1270547439 CA409327085	1437	K>E		No	ClinGen gnomAD
rs373590241 CA315911163	1439	D>G		No	ClinGen ESP gnomAD
CA9899192 rs766953564	1444	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs148720220 CA9899193	1445	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781194740 CA9899194	1447	G>D		No	ClinGen ExAC gnomAD
CA409327497 rs1194425052	1449	N>D		No	ClinGen TOPMed
CA409327525 rs1204547863	1450	C>Y		No	ClinGen gnomAD
CA315911187 rs966236145	1455	V>L		No	ClinGen Ensembl
CA409327689 rs1568740025	1458	N>H		No	ClinGen Ensembl
CA9899197 rs747003638 COSM135886	1460	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747003638 CA409327746	1460	E>Q		No	ClinGen ExAC gnomAD
rs1207439334 CA409327926	1465	E>K		No	ClinGen TOPMed
CA9899200 RCV000501912 rs775564236 RCV002527197	1468	D>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA9899201 rs371481572	1472	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA409328188 rs1394546344	1473	C>F		No	ClinGen TOPMed gnomAD
rs1394546344 CA409328190	1473	C>S		No	ClinGen TOPMed gnomAD
rs1329843479 CA409328228	1474	M>I		No	ClinGen gnomAD
rs1411847728 CA409328210	1474	M>V		No	ClinGen gnomAD
CA409328244 rs1405437030	1475	L>W		No	ClinGen TOPMed gnomAD
CA409328387 rs1568740066	1480	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs776211361 CA9899203	1481	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1483	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142296282 CA9899204	1484	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA315911434 rs1046086866	1492	V>I		No	ClinGen gnomAD
rs1308781826 CA409328858	1493	G>A		No	ClinGen gnomAD
TCGA novel	1495	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749129958 CA315911451	1496	E>D		No	ClinGen Ensembl
CA9899234 rs768063246	1497	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1156727593 CA409329027	1501	K>E		No	ClinGen gnomAD
rs760809126 CA9899236	1502	H>P		No	ClinGen ExAC gnomAD
TCGA novel	1503	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs546688171 CA9899245	1505	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA9899246 rs374800429	1506	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1507	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1600550906 CA409330205	1507	L>P		No	ClinGen Ensembl
rs770441868 CA9899248	1509	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9899250 rs774033935	1509	R>L		No	ClinGen ExAC TOPMed gnomAD
rs369465543 CA9899251	1510	Q>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	1512	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9899252 rs776033637	1513	S>R		No	ClinGen ExAC gnomAD
rs571333777 CA9899253	1514	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA315912075 rs1031926506	1515	I>R		No	ClinGen TOPMed gnomAD
CA409330258 rs1225200167	1516	D>N		No	ClinGen gnomAD
rs974721706 CA315912079	1519	P>A		No	ClinGen TOPMed
rs974721706 CA409330287	1519	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764238309 CA9899254	1521	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9899255 rs753818003	1522	R>G		No	ClinGen ExAC gnomAD
rs987838609 CA315912095	1522	R>K		No	ClinGen TOPMed
CA9899256 CA409330354 rs762113220 COSM3963641	1523	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9899257 rs765423625	1524	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA409330420 rs1568740916	1525	S>G		No	ClinGen Ensembl
rs750625602 CA9899258	1526	Q>R		No	ClinGen ExAC gnomAD
CA9899259 rs754882237	1528	S>C		No	ClinGen ExAC TOPMed gnomAD
rs754882237 CA409330513	1528	S>F		No	ClinGen ExAC TOPMed gnomAD
rs781078519 CA9899260	1529	N>I		No	ClinGen ExAC gnomAD
CA315912120 rs914913476	1529	N>K		No	ClinGen TOPMed
CA315912122 rs977701230	1530	P>R		No	ClinGen Ensembl
rs1164015494 CA409330631	1531	T>A		No	ClinGen gnomAD
CA409330644 rs1372095064	1531	T>I		No	ClinGen gnomAD
CA9899262 rs145219415	1532	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA409330659 rs145219415	1532	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA315912125 rs145219415	1532	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9899261 rs752691054	1532	D>Y		No	ClinGen ExAC gnomAD
CA409330674 rs1451352505	1533	D>N		No	ClinGen gnomAD
CA315912134 rs936388533	1536	K>*		No	ClinGen Ensembl
CA409330830 rs1178780652	1538	R>K		No	ClinGen TOPMed
rs1248568108 CA409330866	1539	P>S		No	ClinGen gnomAD
CA9899267 rs745505570	1540	Y>F		No	ClinGen ExAC gnomAD
CA9899269 rs775764028	1541	A>P		No	ClinGen ExAC TOPMed gnomAD
CA409330891 rs775764028	1541	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9899270 rs775764028	1541	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1458225377 CA409330914	1542	N>D		No	ClinGen gnomAD
rs1210720979 CA409332259	1542	N>S		No	ClinGen TOPMed gnomAD
rs774245280 CA315914601	1543	Q>R		No	ClinGen Ensembl
CA9899285 rs200400452	1545	L>Q		No	ClinGen ExAC gnomAD
rs1241503888 CA409332384	1545	L>V		No	ClinGen TOPMed gnomAD
rs1188051326 CA409332434	1546	F>L		No	ClinGen gnomAD
rs1263401370 CA409332475	1547	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409332518 rs1196896506	1549	L>F		No	ClinGen gnomAD
CA409332520 rs1196896506	1549	L>V		No	ClinGen gnomAD
rs747419699 CA9899288	1555	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9899289 rs769030991	1557	L>F		No	ClinGen ExAC gnomAD
rs1270433333 CA409332738	1557	L>S		No	ClinGen TOPMed gnomAD
CA409332931 rs1341577726	1562	T>I		No	ClinGen gnomAD
CA9899290 rs777068717	1562	T>P		No	ClinGen ExAC gnomAD
CA9899291 rs748633846	1565	N>I		No	ClinGen ExAC gnomAD
CA409333048 rs1347452507	1567	V>A		No	ClinGen gnomAD
rs1219900407 CA409333061	1568	F>L		No	ClinGen gnomAD
rs769770620 CA9899292	1570	P>S		No	ClinGen ExAC gnomAD
rs369538378 CA9899293	1571	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs766756267 CA9899295	1572	T>M		No	ClinGen ExAC gnomAD
CA9899297 rs760454987	1574	K>E		No	ClinGen ExAC gnomAD
rs930645577 CA315914643	1574	K>N		No	ClinGen gnomAD
CA9899298 rs763938732	1574	K>R		No	ClinGen ExAC gnomAD
rs1324957672 CA409333255	1577	D>G		No	ClinGen gnomAD
CA315914655 rs529228290	1578	A>V		No	ClinGen 1000Genomes
CA9899301 rs540964686	1580	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1361571069 CA409333331	1582	V>A		No	ClinGen gnomAD
rs1361571069 CA409333328	1582	V>D		No	ClinGen gnomAD
CA9899302 rs749883196	1583	A>V		No	ClinGen ExAC gnomAD
rs201449025 CA9899304 COSM2761643	1584	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1279054035 CA409333355	1585	Q>*		No	ClinGen gnomAD
rs1413714413 CA409334516	1586	Q>R		No	ClinGen gnomAD
rs778490868 CA9899328	1587	D>N		No	ClinGen ExAC gnomAD
rs1047131672 CA315916059	1588	T>M		No	ClinGen TOPMed gnomAD
CA9899330 rs771150151	1590	D>Y		No	ClinGen ExAC gnomAD
CA9899331 rs779067106	1591	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9899332 rs778562514	1593	I>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1600	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769569255 CA9899336	1600	Q>H		No	ClinGen ExAC TOPMed
rs761704780 CA9899335	1600	Q>R		No	ClinGen ExAC gnomAD
rs1450319534 CA409335086	1601	G>D		No	ClinGen gnomAD
rs941852341 CA315916084	1602	M>V		No	ClinGen Ensembl
CA9899337 rs773188678	1603	Y>C		No	ClinGen ExAC gnomAD
CA409335227 rs1397731767	1605	Y>F		No	ClinGen gnomAD
CA409335246 rs1277072639	1606	M>V		No	ClinGen TOPMed gnomAD
rs751034758 CA9899339	1607	S>A		No	ClinGen ExAC gnomAD
rs1218659570 CA409335305	1608	S>F		No	ClinGen gnomAD
rs758951822 CA9899340	1609	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs767239875 CA9899341	1610	H>Q		No	ClinGen ExAC
rs995799318 COSM189808 CA315916105	1610	H>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs372176306 CA9899342	1611	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs756606048 CA9899343	1615	L>S		No	ClinGen ExAC gnomAD
rs1192961520 CA409335483	1616	D>G		No	ClinGen gnomAD
rs541124438 CA9899344	1616	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA315916128 rs541124438	1616	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA9899346 rs376890535	1620	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600558067 CA409335648	1621	S>F		No	ClinGen Ensembl
CA409335667 rs1344849152	1622	H>R		No	ClinGen gnomAD
rs757797270 CA9899347	1622	H>Y		No	ClinGen ExAC gnomAD
CA409335784 rs1428678483	1627	A>D		No	ClinGen gnomAD
CA409335828 rs1468353227	1628	F>L		No	ClinGen gnomAD
rs377361134 CA315916155	1629	N>S		No	ClinGen Ensembl
rs1174193247 CA409335881	1630	S>C		No	ClinGen TOPMed gnomAD
rs1174193247 CA409335882	1630	S>F		No	ClinGen TOPMed gnomAD
CA315916161 rs370851843	1631	N>D		No	ClinGen TOPMed gnomAD
rs778880126 CA9899348	1631	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1400192821 CA409335930	1634	Q>E		No	ClinGen gnomAD
CA9899351 rs149693297	1634	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9899350 rs559551723	1634	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs771896640 CA315916187	1635	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9899353 rs771896640	1635	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9899352 rs747215606	1635	R>W		No	ClinGen ExAC gnomAD
CA409335958 rs1344137732	1637	V>I		No	ClinGen TOPMed
CA9899355 rs749248890	1640	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA409336667 rs1216127891	1642	G>D		No	ClinGen gnomAD
CA409336018 rs1284288591	1642	G>S		No	ClinGen gnomAD
rs755146384 CA9899370	1644	K>R		No	ClinGen ExAC gnomAD
rs1291260144 CA409336756	1646	K>R		No	ClinGen gnomAD
CA315917659 rs587780281	1647	S>P		No	ClinGen ExAC gnomAD
RCV000116407 rs587780281 CA230902	1647	S>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1211906897 CA409336799	1649	P>L		No	ClinGen gnomAD
CA9899371 rs749125976	1650	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9899372 rs770627875	1660	A>V		No	ClinGen ExAC gnomAD
CA9899373 rs774405307	1662	C>S		No	ClinGen ExAC gnomAD
rs745736864 CA9899374	1668	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1414046326 CA409337149	1669	M>T		No	ClinGen TOPMed
rs771617796 CA9899375	1670	Y>C		No	ClinGen ExAC gnomAD
rs540246597 CA230894 RCV000116393	1675	R>C		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA409337246 rs1600561548	1676	R>G		No	ClinGen Ensembl
rs573621508 CA9899378	1678	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs776392250 CA9899379	1683	Q>*		No	ClinGen ExAC gnomAD
CA409337401 rs1314767872	1685	R>K		No	ClinGen gnomAD
rs958965195 CA315917684	1686	L>V		No	ClinGen Ensembl
CA9899381 rs765505222	1687	L>F		No	ClinGen ExAC gnomAD
CA9899382 rs750952311	1688	T>A		No	ClinGen ExAC gnomAD
CA409338813 rs1484074411	1689	V>I		No	ClinGen TOPMed gnomAD
CA9899399 rs148821408	1690	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260551324 CA409338905	1693	A>T		No	ClinGen gnomAD
rs375184784 CA9899400	1694	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA9899401 rs763355473	1695	A>V		No	ClinGen ExAC gnomAD
rs368361056 COSM243014 CA9899402	1696	Y>C	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs759674594 CA9899404	1700	V>A		No	ClinGen ExAC gnomAD
CA9899406 rs543611054 RCV000512867	1703	E>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201225495 CA409339141	1706	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1303771541 CA409339136	1706	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1304104693 CA409339143	1707	E>K		No	ClinGen TOPMed
rs1292799086 CA409339171	1708	A>V		No	ClinGen gnomAD
rs529589416 CA9899408	1710	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1290476602 CA409339331	1716	L>F		No	ClinGen TOPMed
TCGA novel	1720	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1721	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341147831 CA409339471	1724	N>S		No	ClinGen gnomAD
TCGA novel	1728	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409339679 rs1490090353 COSM459736	1728	F>L	cervix [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	1728	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1730	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374689193 CA9899431	1731	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA315919153 rs867132626	1732	A>D		No	ClinGen Ensembl
CA409339779 rs1600566391	1733	S>L		No	ClinGen Ensembl
rs1192225359 CA409339800	1734	M>I		No	ClinGen TOPMed gnomAD
rs1488555585 CA409339795	1734	M>R		No	ClinGen gnomAD
rs1488555585 CA409339793	1734	M>T		No	ClinGen gnomAD
rs1160849560 CA409339920	1740	C>G		No	ClinGen gnomAD
rs1396574532 CA409339923	1740	C>Y		No	ClinGen TOPMed
CA315919158 rs987373610	1741	E>K		No	ClinGen Ensembl
rs758181809 CA9899433	1743	M>L		No	ClinGen ExAC gnomAD
RCV000486863 RCV000766326 CA9899434 rs367994107	1743	M>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs867942606 CA315919169	1744	Q>*		No	ClinGen Ensembl
CA9899435 COSM399424 rs751546651	1744	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs867942606 CA315919166	1744	Q>K		No	ClinGen Ensembl
TCGA novel	1745	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437293387 CA409340063	1747	L>R		No	ClinGen gnomAD
CA409340085 rs1330514891	1749	P>A		No	ClinGen gnomAD
CA409340082 rs1330514891	1749	P>S		No	ClinGen gnomAD
CA315919179 rs1043621228	1750	E>K		No	ClinGen TOPMed
CA409340122 rs1448655140	1751	L>F		No	ClinGen gnomAD
TCGA novel	1751	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755646774 CA9899439	1752	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1453179238 CA409340157	1755	L>V		No	ClinGen TOPMed
CA9899441 rs199605635	1756	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9899440 rs139003168	1756	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258610591 CA409340194	1758	F>L		No	ClinGen TOPMed
CA9899442 rs771293652	1761	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1456809670 CA409340224	1761	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9899444 rs376589021	1763	G>S		No	ClinGen ESP ExAC gnomAD
CA409340362 rs1170087235	1768	I>M		No	ClinGen gnomAD
CA409340347 rs1416230759	1768	I>V		No	ClinGen gnomAD
rs1381459206 CA409340374	1769	W>*		No	ClinGen TOPMed
rs776030422 CA409340368	1769	W>G		No	ClinGen ExAC TOPMed gnomAD
rs776030422 CA9899447	1769	W>R		No	ClinGen ExAC TOPMed gnomAD
rs760729763 CA9899448	1770	I>R		No	ClinGen ExAC gnomAD
rs764216021 CA9899449	1771	P>T		No	ClinGen ExAC gnomAD
rs1056619925 CA315919223	1772	E>D		No	ClinGen TOPMed gnomAD
CA315919227 rs887123458	1774	P>L		No	ClinGen TOPMed gnomAD
rs1600566634 CA409340503	1777	V>G		No	ClinGen Ensembl
CA9899450 rs776730943	1778	P>Q		No	ClinGen ExAC gnomAD
rs1285554755 CA409340537	1780	A>P		No	ClinGen TOPMed gnomAD
rs950896925 CA315919235	1783	P>L		No	ClinGen TOPMed
CA9899451 rs762059419	1783	P>S		No	ClinGen ExAC gnomAD
rs571409699 CA9899452	1784	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571409699 CA315919238	1784	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1786	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9Y6D5

9 regional properties for Q9Y6D5

Type	Name	Position	InterPro Accession
repeat	Armadillo	112 - 196	IPR000225-1
repeat	Armadillo	198 - 239	IPR000225-2
repeat	Armadillo	242 - 281	IPR000225-3
repeat	Armadillo	283 - 323	IPR000225-4
repeat	Armadillo	325 - 365	IPR000225-5
repeat	Armadillo	367 - 407	IPR000225-6
repeat	Armadillo	410 - 450	IPR000225-7
domain	Importin-alpha, importin-beta-binding domain	1 - 102	IPR002652
repeat	Atypical Arm repeat	464 - 513	IPR032413

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane Golgi apparatus Cytoplasm, perinuclear region Golgi apparatus, trans-Golgi network Endosome Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cell projection, dendrite Cytoplasmic vesicle Synapse Cytoplasm, cytoskeleton	Translocates from cytoplasm to membranes upon cAMP treatment Localized in recycling endosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

15 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
asymmetric synapse	A type of synapse occurring between an axon and a dendritic spine or dendritic shaft. Asymmetric synapses, the most abundant synapse type in the central nervous system, involve axons that contain predominantly spherical vesicles and contain a thickened postsynaptic density. Most or all synapses of this type are excitatory.
axonemal microtubule	A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
symmetric synapse	A synapse that lacks an electron dense postsynaptic specialization. In vertebtrates, these occur primarily on dendrite shafts and neuronal cell bodies and involve persynapses containing clusters of predominantly flattened or elongated vesicles and are typcially inhibitory.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

4 GO annotations of molecular function

Name	Definition
GABA receptor binding	Binding to a gamma-aminobutyric acid (GABA, 4-aminobutyrate) receptor.
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.
myosin binding	Binding to a myosin; myosins are any of a superfamily of molecular motor proteins that bind to actin and use the energy of ATP hydrolysis to generate force and movement along actin filaments.
protein kinase A regulatory subunit binding	Binding to one or both of the regulatory subunits of protein kinase A.

9 GO annotations of biological process

Name	Definition
endomembrane system organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system.
endosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
Golgi to plasma membrane transport	The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
positive regulation of tumor necrosis factor production	Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
receptor recycling	The process that results in the return of receptor molecules to an active state and an active cellular location after they have been stimulated by a ligand. An active state is when the receptor is ready to receive a signal.
regulation of ARF protein signal transduction	Any process that modulates the frequency, rate or extent of ARF protein signal transduction.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O46382	ARFGEF1	Brefeldin A-inhibited guanine nucleotide-exchange protein 1	Bos taurus (Bovine)	PR
Q9Y6D6	ARFGEF1	Brefeldin A-inhibited guanine nucleotide-exchange protein 1	Homo sapiens (Human)	PR
Q9UIA0	CYTH4	Cytohesin-4	Homo sapiens (Human)	SS
Q5JU85	IQSEC2	IQ motif and SEC7 domain-containing protein 2	Homo sapiens (Human)	EV
Q9UPP2	IQSEC3	IQ motif and SEC7 domain-containing protein 3	Homo sapiens (Human)	SS
Q6DN90	IQSEC1	IQ motif and SEC7 domain-containing protein 1	Homo sapiens (Human)	EV
Q99418	CYTH2	Cytohesin-2	Homo sapiens (Human)	SS
O43739	CYTH3	Cytohesin-3	Homo sapiens (Human)	EV
Q15438	CYTH1	Cytohesin-1	Homo sapiens (Human)	SS
Q92538	GBF1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
A2A5R2	Arfgef2	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	Mus musculus (Mouse)	PR
G3X9K3	Arfgef1	Brefeldin A-inhibited guanine nucleotide-exchange protein 1	Mus musculus (Mouse)	PR
D4A631	Arfgef1	Brefeldin A-inhibited guanine nucleotide-exchange protein 1	Rattus norvegicus (Rat)	PR
Q7TSU1	Arfgef2	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MQESQTKSMF	VSRALEKILA	DKEVKRPQHS	QLRRACQVAL	DEIKAEIEKQ	RLGTAAPPKA
70	80	90	100	110	120
NFIEADKYFL	PFELACQSKS	PRVVSTSLDC	LQKLIAYGHI	TGNAPDSGAP	GKRLIDRIVE
130	140	150	160	170	180
TICSCFQGPQ	TDEGVQLQII	KALLTAVTSP	HIEIHEGTIL	QTVRTCYNIY	LASKNLINQT
190	200	210	220	230	240
TAKATLTQML	NVIFTRMENQ	VLQEARELEK	PIQSKPQSPV	IQAAAVSPKF	VRLKHSQAQS
250	260	270	280	290	300
KPTTPEKTDL	TNGEHARSDS	GKVSTENGDA	PRERGSSLSG	TDDGAQEVVK	DILEDVVTSA
310	320	330	340	350	360
IKEAAEKHGL	TEPERVLGEL	ECQECAIPPG	VDENSQTNGI	ADDRQSLSSA	DNLESDAQGH
370	380	390	400	410	420
QVAARFSHVL	QKDAFLVFRS	LCKLSMKPLG	EGPPDPKSHE	LRSKVVSLQL	LLSVLQNAGP
430	440	450	460	470	480
VFRTHEMFIN	AIKQYLCVAL	SKNGVSSVPD	VFELSLAIFL	TLLSNFKMHL	KMQIEVFFKE
490	500	510	520	530	540
IFLNILETST	SSFEHRWMVI	QTLTRICADA	QCVVDIYVNY	DCDLNAANIF	ERLVNDLSKI
550	560	570	580	590	600
AQGRSGHELG	MTPLQELSLR	KKGLECLVSI	LKCMVEWSKD	LYVNPNHQTS	LGQERLTDQE
610	620	630	640	650	660
IGDGKGLDMA	RRCSVTSMES	TVSSGTQTTV	QDDPEQFEVI	KQQKEIIEHG	IELFNKKPKR
670	680	690	700	710	720
GIQFLQEQGM	LGTSVEDIAQ	FLHQEERLDS	TQVGDFLGDS	ARFNKEVMYA	YVDQLDFCEK
730	740	750	760	770	780
EFVSALRTFL	EGFRLPGEAQ	KIDRLMEKFA	ARYIECNQGQ	TLFASADTAY	VLAYSIIMLT
790	800	810	820	830	840
TDLHSPQVKN	KMTKEQYIKM	NRGINDSKDL	PEEYLSSIYE	EIEGKKIAMK	ETKELTIATK
850	860	870	880	890	900
STKQNVASEK	QRRLLYNLEM	EQMAKTAKAL	MEAVSHAKAP	FTSATHLDHV	RPMFKLVWTP
910	920	930	940	950	960
LLAAYSIGLQ	NCDDTEVASL	CLEGIRCAIR	IACIFGMQLE	RDAYVQALAR	FSLLTASSSI
970	980	990	1000	1010	1020
TEMKQKNIDT	IKTLITVAHT	DGNYLGNSWH	EILKCISQLE	LAQLIGTGVK	TRYLSGSGRE
1030	1040	1050	1060	1070	1080
REGSLKGHTL	AGEEFMGLGL	GNLVSGGVDK	RQMASFQESV	GETSSQSVVV	AVDRIFTGST
1090	1100	1110	1120	1130	1140
RLDGNAIVDF	VRWLCAVSMD	ELASPHHPRM	FSLQKIVEIS	YYNMNRIRLQ	WSRIWHVIGD
1150	1160	1170	1180	1190	1200
HFNKVGCNPN	EDVAIFAVDS	LRQLSMKFLE	KGELANFRFQ	KDFLRPFEHI	MKKNRSPTIR
1210	1220	1230	1240	1250	1260
DMAIRCIAQM	VNSQAANIRS	GWKNIFAVFH	QAASDHDGNI	VELAFQTTCH	IVTTIFQHHF
1270	1280	1290	1300	1310	1320
PAAIDSFQDA	VKCLSEFACN	AAFPDTSMEA	IRLIRFCGKY	VSERPRVLQE	YTSDDMNVAP
1330	1340	1350	1360	1370	1380
GDRVWVRGWF	PILFELSCII	NRCKLDVRTR	GLTVMFEIMK	SYGHTFEKHW	WQDLFRIVFR
1390	1400	1410	1420	1430	1440
IFDNMKLPEQ	LSEKSEWMTT	TCNHALYAIC	DVFTQFYEAL	NEVLLSDVFA	QLQWCVKQDN
1450	1460	1470	1480	1490	1500
EQLARSGTNC	LENLVISNGE	KFSPEVWDET	CNCMLDIFKT	TIPHVLLTWR	PVGMEEDSSE
1510	1520	1530	1540	1550	1560
KHLDVDLDRQ	SLSSIDKNPS	ERGQSQLSNP	TDDSWKGRPY	ANQKLFASLL	IKCVVQLELI
1570	1580	1590	1600	1610	1620
QTIDNIVFYP	ATSKKEDAEH	MVAAQQDTLD	ADIHIETEDQ	GMYKYMSSQH	LFKLLDCLQE
1630	1640	1650	1660	1670	1680
SHSFSKAFNS	NYEQRTVLWR	AGFKGKSKPN	LLKQETSSLA	CCLRILFRMY	VDENRRDSWE
1690	1700	1710	1720	1730	1740
EIQQRLLTVC	SEALAYFITV	NSESHREAWT	SLLLLLLTKT	LKINDEKFKA	HASMYYPYLC
1750	1760	1770	1780
EIMQFDLIPE	LRAVLRKFFL	RIGVVYKIWI	PEEPSQVPAA	LSPVW