AiPD: Autoinhibited Protein Database

Q8NB66

Gene name	UNC13C
Protein name	Protein unc-13 homolog C
Names	Munc13-3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:440279
EC number
Protein Class

Descriptions

Unc13, a phorbol ester/diacylglycerol-binding protein, is a synaptic hub protein required for fast chemical synaptic transmission by directly regulating SNAREs, and its Syntaxin-interacting MUN domain is essential for Unc13 function. The C1-C2B domain N-terminally adjacent to the MUN domain inhibits Unc13 function by tightly coupled to the MUN domain, which is disinhibited by diacylglycerol (DAG) or calcium binding. The disinhibition step allows for the superpriming of synaptic vesicles. Also, the addition of flexibility to the linker between the C2B and MUN domains relieves the autoinhibited state.

Autoinhibitory domains (AIDs)

1098-1147 (C1 domain) SS

Target domain	1539-2028 (MUN domain)
Relief mechanism	Ligand binding
Assay

AID

1098-1147 (C1 domain)

Target domain

1539-2028 (MUN domain)

Relief mechanism

Ligand binding (Diacylglycerol (DAG) or calcium binding to C2B)

Assay

1203-1331 (C2B domain) SS

Target domain	1539-2028 (MUN domain)
Relief mechanism	Ligand binding
Assay

AID

1203-1331 (C2B domain)

Target domain

1539-2028 (MUN domain)

Relief mechanism

Ligand binding (Diacylglycerol (DAG) or calcium binding to C2B)

Assay

1332-1538 (C2B-MUN linker region) SS

Target domain	1539-2028 (MUN domain)
Relief mechanism	Ligand binding
Assay

AID

1332-1538 (C2B-MUN linker region)

Target domain

1539-2028 (MUN domain)

Relief mechanism

Ligand binding (Diacylglycerol (DAG) or calcium binding to C2B)

Assay

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

Palfreyman MT et al. (2017) "Unc13 Aligns SNAREs and Superprimes Synaptic Vesicles", Neuron, 95, 473-475

Michelassi F et al. (2017) "A C1-C2 Module in Munc13 Inhibits Calcium-Dependent Neurotransmitter Release", Neuron, 95, 577-590.e5

Autoinhibited structure

Activated structure

1 structures for Q8NB66

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NB66-F1	Predicted				AlphaFoldDB

1994 variants for Q8NB66

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs777064285 CA7571656 RCV001262307	95	R>*	Clubfoot [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746069739 RCV000590970	443	K>missing	Alzheimer disease [ClinVar]	Yes	ClinVar dbSNP
rs770538676 CA7571586	2	V>L		No	ClinGen ExAC gnomAD
rs1003162998 CA270753367	3	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745831884 CA7571588	4	N>D		No	ClinGen ExAC gnomAD
rs771717291 CA7571589	4	N>K		No	ClinGen ExAC TOPMed gnomAD
rs745831884 CA270753370	4	N>Y		No	ClinGen ExAC gnomAD
rs774703220 CA270753414	5	F>V		No	ClinGen gnomAD
rs1340319567	7	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA270753444 rs867437380	9	L>F		No	ClinGen Ensembl
rs746847819 CA7571591	9	L>M		No	ClinGen ExAC gnomAD
CA7571592 rs769985059	9	L>W		No	ClinGen ExAC gnomAD
rs534446005 CA270753465	12	P>L		No	ClinGen Ensembl
CA7571593 rs773485401	12	P>S		No	ClinGen ExAC gnomAD
CA392531119 rs999994043	13	Y>*		No	ClinGen TOPMed gnomAD
CA7571594 rs763018634	14	I>T		No	ClinGen ExAC gnomAD
CA392531139 rs1461141833	15	H>D		No	ClinGen gnomAD
rs1028822198 CA270753493	15	H>R		No	ClinGen TOPMed gnomAD
rs766487816 CA7571595	17	L>H		No	ClinGen ExAC gnomAD
CA7571596 rs774668899	19	K>*		No	ClinGen ExAC gnomAD
rs760116483 CA7571597	19	K>R		No	ClinGen ExAC gnomAD
CA270753521 rs267604261	20	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1451185155 CA392531209	20	G>R		No	ClinGen gnomAD
CA7571599 COSM3706631 rs753088057 COSM3706630	21	M>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs953445513 CA270753528	22	F>L		No	ClinGen TOPMed
rs1303078567 CA392531239	23	T>A		No	ClinGen gnomAD
TCGA novel	24	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763832948 CA7571601	25	K>E		No	ClinGen ExAC gnomAD
rs1249795147 CA392531260	26	L>V		No	ClinGen gnomAD
rs199664778 CA7571603	26	L>W		No	ClinGen 1000Genomes ExAC
rs756665734 CA7571604	27	G>*		No	ClinGen ExAC gnomAD
CA270753544 rs867213201	27	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7571606 rs745753424	29	T>I		No	ClinGen ExAC gnomAD
rs758325745 CA7571607	30	N>I		No	ClinGen ExAC gnomAD
CA7571608 rs141195414	31	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1566947740 CA392531294	31	K>N		No	ClinGen Ensembl
TCGA novel	31	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571609 rs746798733	32	N>I		No	ClinGen ExAC gnomAD
CA7571611 rs768507852	34	E>K		No	ClinGen ExAC TOPMed gnomAD
rs201863524 CA7571612	36	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201863524 CA7571613	36	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542552938 CA7571614	36	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567758216 CA270753692	38	Q>H		No	ClinGen Ensembl
rs750846653 CA270753696	39	K>I		No	ClinGen gnomAD
CA392531349 rs750846653	39	K>R		No	ClinGen gnomAD
rs774454223 CA270753707 CA7571616	40	K>N		No	ClinGen ExAC gnomAD
rs868287258 CA270753699	40	K>Q		No	ClinGen Ensembl
rs190453293 CA7571617	42	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392531375 rs1291095376	43	D>G		No	ClinGen gnomAD
CA392531381 rs1363307424	44	F>L		No	ClinGen TOPMed gnomAD
CA392531388 rs1283003729	45	P>S		No	ClinGen TOPMed
CA392531397 rs1223981408	46	T>N		No	ClinGen TOPMed
CA7571618 rs776205447	47	A>D		No	ClinGen ExAC gnomAD
CA7571619 rs761051813	49	Q>*		No	ClinGen ExAC gnomAD
CA392531414 rs1347605433	49	Q>R		No	ClinGen gnomAD
CA392531423 rs1224420883	50	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756967341 CA7571623	52	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7571622 rs756967341	52	S>F		No	ClinGen ExAC TOPMed gnomAD
rs753493983 CA7571621	52	S>P		No	ClinGen ExAC gnomAD
rs1261174386 CA392531437	53	P>S		No	ClinGen gnomAD
rs1566947876 CA392531445	54	K>R		No	ClinGen Ensembl
rs779967285 CA392531475	58	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779967285 CA7571626	58	T>S		No	ClinGen ExAC TOPMed gnomAD
CA392531479 rs867089541	59	F>C		No	ClinGen TOPMed gnomAD
TCGA novel	59	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867089541 CA270753770	59	F>S		No	ClinGen TOPMed gnomAD
rs182909695 CA7571627	60	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369648674 CA7571628	61	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369648674 CA392531493	61	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs780993831 CA7571629	61	S>R		No	ClinGen ExAC gnomAD
CA7571630 rs747931710	62	T>P		No	ClinGen ExAC gnomAD
rs771159618 CA7571631	64	K>M		No	ClinGen ExAC TOPMed gnomAD
CA7571632 rs771159618	64	K>R		No	ClinGen ExAC TOPMed gnomAD
rs745955813 CA7571633	66	I>T		No	ClinGen ExAC gnomAD
rs772280621 CA7571634	67	A>S		No	ClinGen ExAC gnomAD
TCGA novel	68	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365766705 CA392531532	68	K>Q		No	ClinGen gnomAD
CA7571636 rs761288675	69	C>*		No	ClinGen ExAC gnomAD
rs1225205082 CA392531543	69	C>Y		No	ClinGen TOPMed gnomAD
CA7571637 rs376968299	70	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185947534 CA392531556	71	S>F		No	ClinGen TOPMed
CA7571639 rs762134513	72	T>N		No	ClinGen ExAC TOPMed gnomAD
rs762134513 CA7571640	72	T>S		No	ClinGen ExAC TOPMed gnomAD
rs370228589 CA7571638	72	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289088442 CA392531563	73	H>Y		No	ClinGen TOPMed
CA7571641 rs750114199	74	N>K		No	ClinGen ExAC gnomAD
CA392531571 rs1244840256	74	N>Y		No	ClinGen TOPMed
CA7571643 rs765890851	76	S>C		No	ClinGen ExAC gnomAD
rs762460603 CA7571642	76	S>P		No	ClinGen ExAC gnomAD
CA7571644 rs548878518	77	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1006158765 CA270753887	77	T>I		No	ClinGen Ensembl
CA392531593 rs1316965166	78	E>*		No	ClinGen TOPMed
TCGA novel	78	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267604262 CA270753914	79	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA270753925 rs186907742	80	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7571646 rs781151679	80	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781151679 CA392531607	80	D>Y		No	ClinGen ExAC TOPMed gnomAD
COSM191199 CA7571648 rs755928094	81	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	83	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	84	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392531644 rs1595712166	85	E>A		No	ClinGen Ensembl
rs1028769813 CA270753996	86	F>S		No	ClinGen TOPMed
CA270753997 rs993611488	87	S>C		No	ClinGen gnomAD
rs1167438000 CA392531671	89	S>*		No	ClinGen TOPMed
CA392531668 rs1444335595	89	S>P		No	ClinGen gnomAD
CA392531675 rs1355685633	90	P>S		No	ClinGen TOPMed gnomAD
CA392531673 rs1355685633	90	P>T		No	ClinGen TOPMed gnomAD
rs537913989 CA7571651	91	T>A		No	ClinGen ExAC TOPMed gnomAD
rs537913989 CA7571652	91	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7571657 rs762237766	95	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7571659 rs372915581	96	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1480480436 CA392531710	96	V>I		No	ClinGen gnomAD
TCGA novel	96	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766056722 CA7571661	98	I>V		No	ClinGen ExAC gnomAD
rs1007708349 CA270754066	100	N>S		No	ClinGen Ensembl
CA392531733 rs1216299209	100	N>Y		No	ClinGen TOPMed
CA392531741 rs1411774906	101	G>R		No	ClinGen gnomAD
rs556158782 CA270754069	102	L>I		No	ClinGen TOPMed
CA392531750 rs1354196839	103	Q>K		No	ClinGen TOPMed gnomAD
CA392531765 rs1338471902	104	K>N		No	ClinGen gnomAD
CA7571666 rs571690720	105	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA7571667 rs754212718	106	A>V		No	ClinGen ExAC gnomAD
rs758665160 CA7571669	109	T>I		No	ClinGen ExAC TOPMed gnomAD
rs758665160 CA7571670	109	T>N		No	ClinGen ExAC TOPMed gnomAD
CA392531795 rs758665160	109	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7571671 rs747073939	111	S>C		No	ClinGen ExAC gnomAD
rs376146156 CA7571672	112	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs781676972 CA7571673	113	N>D		No	ClinGen ExAC gnomAD
TCGA novel	113	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392531825 rs1265463980	114	E>K		No	ClinGen TOPMed gnomAD
CA392531830 rs1595712431	114	E>V		No	ClinGen Ensembl
rs989699165 CA270754198	115	D>E		No	ClinGen gnomAD
CA392531834 rs770150249	115	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7571675 rs770150249	115	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7571677 rs200666738	119	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA392531868 rs1566948356	120	L>F		No	ClinGen Ensembl
CA392531876 rs1419000594	121	S>C		No	ClinGen gnomAD
CA7571679 rs547772270	123	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199861324 CA7571680	123	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547772270 CA392531885	123	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7571681 rs766948122	124	E>K		No	ClinGen ExAC TOPMed gnomAD
CA270754213 rs766948122	124	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1332053071 CA392531901	125	S>R		No	ClinGen gnomAD
TCGA novel	126	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775449533 CA7571683	127	Y>C		No	ClinGen ExAC gnomAD
rs775449533 CA7571682	127	Y>S		No	ClinGen ExAC gnomAD
CA392531928 rs1337963701	129	E>D		No	ClinGen gnomAD
CA392531950 rs1324655302	133	E>K		No	ClinGen gnomAD
CA392531965 rs1197982036	135	R>K		No	ClinGen TOPMed
COSM3667733 rs982553607 COSM3667732 CA270754253	136	S>N	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1200273809 CA392531980	137	S>N		No	ClinGen TOPMed gnomAD
rs755391398 COSM1517443 COSM1517442 CA7571687	137	S>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392531985 rs1449247806	138	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	139	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216573185 CA392532003	140	N>I		No	ClinGen gnomAD
CA392532007 rs1262653549	141	Q>E		No	ClinGen gnomAD
rs751837653 CA7571688	141	Q>R		No	ClinGen ExAC gnomAD
rs1251724323 CA392532019	143	Q>K		No	ClinGen TOPMed
rs1479963746 CA392532051	147	T>I		No	ClinGen gnomAD
rs1170595555 CA392532060 CA392532059	148	M>I		No	ClinGen gnomAD
CA392532070 rs1222923428	150	V>F		No	ClinGen TOPMed
rs755053160 CA7571689	151	R>I		No	ClinGen ExAC gnomAD
rs1401285564 CA392532079	151	R>S		No	ClinGen gnomAD
COSM258686 rs536918048 CA7571690 COSM258685	152	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA7571691 rs748652266	152	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7571693 rs201347376	154	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1232919187 CA392532111	156	S>I		No	ClinGen gnomAD
CA392532125 rs1273500515	158	S>I		No	ClinGen gnomAD
CA7571694 rs749646589	159	S>C		No	ClinGen ExAC gnomAD
rs1224863291 CA392532132	159	S>I		No	ClinGen gnomAD
CA7571695 rs771285805	160	L>F		No	ClinGen ExAC gnomAD
rs773933187 CA7571696	161	A>S		No	ClinGen ExAC TOPMed gnomAD
rs771570632 CA7571698	162	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1451262581 CA392532149	162	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs191754433 CA7571699	163	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7571700 rs760282085	164	E>K		No	ClinGen ExAC gnomAD
CA7571703 rs761636565	169	G>A		No	ClinGen ExAC gnomAD
CA7571702 rs183149776	169	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751786531 CA7571705	171	R>C		No	ClinGen ExAC gnomAD
rs137929834 CA7571706	171	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7571707 rs767826609	172	T>S		No	ClinGen ExAC gnomAD
CA7571708 rs752702100	174	H>L		No	ClinGen ExAC TOPMed gnomAD
CA392532219 rs752702100	174	H>P		No	ClinGen ExAC TOPMed gnomAD
rs752702100 CA7571709	174	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	175	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270754364 rs371616367	175	G>S		No	ClinGen ESP TOPMed
CA7571710 rs778072533	178	L>P		No	ClinGen ExAC gnomAD
CA7571711 rs754355545	179	G>E		No	ClinGen ExAC gnomAD
COSM130076 CA270754370 rs993167420	179	G>R	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7571712 rs757565958	180	A>V		No	ClinGen ExAC gnomAD
CA7571713 rs779280629 COSM2217757 COSM2217758	182	R>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM191200 CA7571714 rs746269797 COSM2217759	182	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	184	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392532280 rs1252959726	185	R>K		No	ClinGen gnomAD
CA392532285 rs1462794534	186	K>Q		No	ClinGen TOPMed gnomAD
CA270754391 rs771602803	187	W>*		No	ClinGen ExAC TOPMed gnomAD
CA392532296 rs1236230361	187	W>*		No	ClinGen gnomAD
CA7571715 rs771602803	187	W>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	189	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571717 rs779815010	190	S>C		No	ClinGen ExAC gnomAD
rs746499009 CA7571718	190	S>T		No	ClinGen ExAC gnomAD
CA392532341 rs1456043512	193	C>G		No	ClinGen gnomAD
rs768217726 CA7571719	193	C>Y		No	ClinGen ExAC gnomAD
rs776656046 CA7571721	195	S>F		No	ClinGen ExAC gnomAD
rs1017693951 CA270754425	197	D>E		No	ClinGen Ensembl
rs1257891057 CA392532363	197	D>N		No	ClinGen TOPMed
rs761867244 CA7571722	198	S>L		No	ClinGen ExAC TOPMed gnomAD
CA392532376 rs1331113277	199	E>Q		No	ClinGen gnomAD
CA392532393 rs1335327914	201	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1375308159 CA392532396	201	S>R		No	ClinGen gnomAD
rs577622413 CA7571723	202	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7571725 rs762859924	203	M>V		No	ClinGen ExAC gnomAD
rs767624876 CA7571726	204	K>R		No	ClinGen ExAC gnomAD
TCGA novel	205	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	205	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571728 rs756696299	207	W>C		No	ClinGen ExAC gnomAD
COSM385857 rs751261564 CA7571727 COSM385856	207	W>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392532441 rs1197767646	208	G>*		No	ClinGen gnomAD
COSM555538 rs1255994307 CA392532454 COSM555537	210	R>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA270754480 rs1021153629	211	S>G		No	ClinGen Ensembl
rs374794106 CA7571729	211	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571730 rs540330153	213	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	213	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757729278 CA270754538	214	L>F		No	ClinGen ExAC TOPMed gnomAD
rs779445844 CA7571732	215	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1194697701 CA392532495	216	R>I		No	ClinGen gnomAD
rs750773892 CA7571733	217	T>A		No	ClinGen ExAC gnomAD
CA392532510 rs1398625382	219	R>*		No	ClinGen TOPMed gnomAD
rs201395941 CA7571736	219	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA270754591 rs747113681	221	P>S		No	ClinGen Ensembl
CA270754592 rs573321541	223	T>K		No	ClinGen 1000Genomes
rs1595713135 CA392532539	224	N>H		No	ClinGen Ensembl
CA392532549 rs1337922521	225	A>D		No	ClinGen gnomAD
rs1035448235 CA270754596	225	A>P		No	ClinGen Ensembl
rs1337922521 CA392532551	225	A>V		No	ClinGen gnomAD
CA392532553 rs1402125317	226	L>V		No	ClinGen gnomAD
CA392532565 rs768005304	228	P>A		No	ClinGen ExAC gnomAD
CA7571737 rs768005304	228	P>T		No	ClinGen ExAC gnomAD
CA392532571 rs1327246747	229	G>R		No	ClinGen gnomAD
rs780884252 CA392532587	231	S>I		No	ClinGen ExAC TOPMed gnomAD
rs780884252 CA7571738	231	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7571740 TCGA novel rs187781822	231	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA
CA392532588 rs780884252	231	S>T		No	ClinGen ExAC TOPMed gnomAD
rs745729018 CA7571741	232	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7571742 rs376878856	235	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368186923 CA7571743	235	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571744 rs775524019	236	I>V		No	ClinGen ExAC gnomAD
CA7571745 rs760985588	237	S>R		No	ClinGen ExAC gnomAD
rs753892539 CA7571747	240	H>D		No	ClinGen ExAC TOPMed gnomAD
rs371990383 CA7571748	241	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA392532654 rs1453984484	242	V>I		No	ClinGen TOPMed
CA7571749 rs765729042	244	E>A		No	ClinGen ExAC gnomAD
rs376591091 CA7571750	245	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	246	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758633735 CA7571751	247	F>C		No	ClinGen ExAC gnomAD
CA7571753 rs751135188	248	K>N		No	ClinGen ExAC gnomAD
rs369852151 CA7571754	251	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs554074288 CA270754768	252	G>*		No	ClinGen Ensembl
rs1361303866 CA392532733	253	I>V		No	ClinGen gnomAD
CA270754791 rs769869338	258	T>I		No	ClinGen Ensembl
CA7571756 rs781043798	260	L>F		No	ClinGen ExAC TOPMed gnomAD
rs781043798 CA7571755	260	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1385093921 CA392532789	261	S>F		No	ClinGen TOPMed
TCGA novel	263	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300397403 CA392532802	263	L>Q		No	ClinGen TOPMed gnomAD
COSM1373542 CA392532806 COSM1373541 rs1595713365	264	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs755686570 CA7571757	264	R>Q		No	ClinGen ExAC gnomAD
CA7571759 rs749267979	267	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7571760 rs374013377	268	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260984714 CA392532829	268	N>Y		No	ClinGen gnomAD
CA270754832 rs973263136	269	A>V		No	ClinGen Ensembl
CA392532852 rs1473661188	271	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM700979 COSM700980 rs774162675 CA7571761	271	K>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM962928 COSM962927 rs572244434 CA7571762	272	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768852845 CA7571763	274	I>V		No	ClinGen ExAC gnomAD
CA392532872 COSM962929 rs1431921555 COSM962930	275	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs960873048 CA270754844	275	D>V		No	ClinGen TOPMed
rs761816594 CA7571765	277	I>L		No	ClinGen ExAC gnomAD
COSM700978 CA392532893 COSM700977 rs1219059524	278	S>T	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
COSM86471 rs1381509767 CA392532913	280	S>R	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA270754856 rs919164650	283	V>A		No	ClinGen gnomAD
rs765317371 CA7571766	283	V>I		No	ClinGen ExAC gnomAD
TCGA novel	284	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392532939 rs1229194827	285	Q>K		No	ClinGen TOPMed
rs773545757 CA7571767	286	S>G		No	ClinGen ExAC gnomAD
rs1358939691 CA392532949	286	S>N		No	ClinGen TOPMed
CA392532967 rs1365167868	288	I>T		No	ClinGen gnomAD
CA392532971 rs1392954591	289	E>*		No	ClinGen gnomAD
rs878887118 CA270754862	289	E>D		No	ClinGen TOPMed
rs763549683 CA7571768	290	Q>R		No	ClinGen ExAC gnomAD
rs751934604 CA7571770	292	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392532992 rs1359672529	292	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7571772 rs767208811	293	T>A		No	ClinGen ExAC gnomAD
CA392533004 rs374691355	294	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs374691355 CA392533003	294	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA392533001 rs1487685798	294	G>R		No	ClinGen gnomAD
CA7571773 rs374691355	294	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	295	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203251562 CA392533005	295	F>I		No	ClinGen gnomAD
rs768613080 CA270754886	296	V>I		No	ClinGen Ensembl
CA392533023 rs1238333177	297	Q>R		No	ClinGen gnomAD
rs757196551 CA392533033	299	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM3700979 rs757196551 CA7571777 COSM3700978	299	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748788123 CA7571776	299	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7571778 rs149448818 VAR_067540	304	D>E	rare variant; may act as a phenotype modifier in EIEE13 patients carrying SCN8A mutations [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200373355 CA7571779	306	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs893591339 CA270754898	307	D>G		No	ClinGen Ensembl
rs1011016106 CA270754922	308	Y>C		No	ClinGen TOPMed
rs1444527286 CA392533111	310	K>N		No	ClinGen gnomAD
CA7571782 rs748393377	311	H>R		No	ClinGen ExAC gnomAD
CA270754946 rs1021101133	314	H>L		No	ClinGen Ensembl
CA7571783 rs769828010	315	M>I		No	ClinGen ExAC TOPMed gnomAD
CA270754949 rs902739820	315	M>T		No	ClinGen Ensembl
TCGA novel	316	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	317	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392533153 rs1227273413	317	S>G		No	ClinGen gnomAD
CA7571785 rs370911264	319	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370911264 CA7571786	319	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7571784 rs147539114	319	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	322	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392533193 rs1173463647	323	F>L		No	ClinGen TOPMed gnomAD
CA7571787 rs774720198	325	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1457684156 CA392533221	327	T>A		No	ClinGen gnomAD
CA270755001 rs762117288	329	E>G		No	ClinGen gnomAD
CA7571789 rs768012725	329	E>K		No	ClinGen ExAC gnomAD
CA7571790 rs752355854	331	F>L		No	ClinGen ExAC gnomAD
CA392533261 rs1181371668	332	E>D		No	ClinGen gnomAD
CA7571791 rs760370638	333	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1171087801 CA392533272	334	V>A		No	ClinGen gnomAD
CA7571792 rs763702163	334	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392533289 rs1897041	336	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7571794 rs756784446	337	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7571795 COSM962933 COSM962934 rs756784446	337	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs536680447 CA270755062	338	V>G		No	ClinGen 1000Genomes
CA392533306 rs1438229654	339	Y>*		No	ClinGen TOPMed
rs1359674981 CA392533303	339	Y>C		No	ClinGen gnomAD
rs758142234 CA7571797	343	I>T		No	ClinGen ExAC gnomAD
rs371029211 CA7571798	344	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	345	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571800 rs770039596	346	M>V		No	ClinGen ExAC gnomAD
CA392533358 rs1328013263	347	G>D		No	ClinGen TOPMed
rs777919053 CA7571801	347	G>R		No	ClinGen ExAC gnomAD
CA392533366 rs1217189666	348	F>C		No	ClinGen gnomAD
CA7571803 rs770926200	348	F>L		No	ClinGen ExAC
rs565877113 CA7571804	349	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376215848 CA7571806	350	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571805 rs760149670	350	D>H		No	ClinGen ExAC TOPMed gnomAD
rs760149670 CA392533373	350	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775973984 CA7571807	352	P>S		No	ClinGen ExAC gnomAD
rs1194598594 CA392533391	353	N>D		No	ClinGen gnomAD
CA392533394 rs1423217893	353	N>S		No	ClinGen TOPMed gnomAD
CA7571808 rs761178605	361	Q>H		No	ClinGen ExAC gnomAD
rs1425768653 CA392533457	362	R>K		No	ClinGen gnomAD
rs761330616 CA7571811	365	H>Q		No	ClinGen ExAC gnomAD
CA7571810 rs753437924	365	H>R		No	ClinGen ExAC gnomAD
COSM3744660 rs772005375 COSM3744661 CA270755151	369	C>R	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA7571813 rs750323245	370	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7571814 rs758303560	371	N>K		No	ClinGen ExAC gnomAD
CA7571815 rs780018702	373	K>N		No	ClinGen ExAC TOPMed
CA392533536 rs1231398415	374	P>T		No	ClinGen TOPMed
COSM416896 COSM416897 rs1337986902 CA392533543	375	R>*	ovary Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1040594595 CA270755161	375	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1277045906 CA392533552	377	I>L		No	ClinGen gnomAD
rs1219208957 CA392533558	377	I>M		No	ClinGen gnomAD
rs1346289639 CA392533556	377	I>T		No	ClinGen gnomAD
rs1277045906 CA392533553	377	I>V		No	ClinGen gnomAD
CA270755163 rs929205459	378	L>F		No	ClinGen Ensembl
CA7571819 rs749490558	382	E>A		No	ClinGen ExAC gnomAD
CA392533601 rs1201312242	384	P>H		No	ClinGen TOPMed gnomAD
rs1201312242 CA392533603	384	P>L		No	ClinGen TOPMed gnomAD
rs1201312242 CA392533602	384	P>R		No	ClinGen TOPMed gnomAD
CA7571820 rs771000338	384	P>S		No	ClinGen ExAC gnomAD
COSM700976 CA392533605 rs1322185595 COSM700975	385	Q>E	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1477642014 CA392533627	388	D>N		No	ClinGen gnomAD
rs1220596388 CA392533638	389	S>F		No	ClinGen TOPMed
rs370327961 CA7571822	391	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs772691924 CA392533665	393	K>M		No	ClinGen ExAC TOPMed gnomAD
CA7571823 rs772691924	393	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	393	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	399	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571824 COSM1269772 COSM1269773 rs375027743	399	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs747332316 CA7571825	400	T>A		No	ClinGen ExAC gnomAD
CA7571826 rs768916962	401	G>C		No	ClinGen ExAC gnomAD
rs768916962 CA392533714	401	G>S		No	ClinGen ExAC gnomAD
CA7571827 rs776299868	402	I>T		No	ClinGen ExAC gnomAD
TCGA novel	403	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571828 rs144045439	403	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA392533744 rs1240947865	406	T>A		No	ClinGen TOPMed gnomAD
CA270755258 rs1049193604	406	T>I		No	ClinGen TOPMed
CA392533751 rs1285484107	407	D>A		No	ClinGen gnomAD
CA7571830 rs772690678	409	L>P		No	ClinGen ExAC TOPMed gnomAD
rs764983407 CA7571829	409	L>V		No	ClinGen ExAC gnomAD
rs1223930004 CA392533766	410	T>P		No	ClinGen gnomAD
rs572612972 CA7571831	410	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1450779416 CA392533787	413	I>L		No	ClinGen gnomAD
CA392533812 rs766304161	416	R>I		No	ClinGen ExAC TOPMed gnomAD
CA7571832 rs766304161	416	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1239924717 CA392533827	418	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	418	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867041374 CA270755324	420	G>E		No	ClinGen Ensembl
CA7571833 rs147297407	420	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM364380 COSM364381 CA392533849 rs1378000693	421	I>M	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	422	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571834 rs372220649	423	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs752573977 CA270755343	424	S>C		No	ClinGen ExAC TOPMed gnomAD
rs752573977 CA7571836	424	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs961245537 CA270755335	424	S>T		No	ClinGen TOPMed gnomAD
CA392533868 rs1322051833	425	Q>R		No	ClinGen gnomAD
rs1403078604 CA392533873	426	T>A		No	ClinGen TOPMed gnomAD
CA392533877 rs1448220871	426	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1403078604 CA392533872	426	T>S		No	ClinGen TOPMed gnomAD
CA7571839 rs745938203	427	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7571838 rs779334724	427	Y>D		No	ClinGen ExAC gnomAD
CA392533889 rs1314638053	428	E>G		No	ClinGen TOPMed
CA7571840 rs758556084	429	S>N		No	ClinGen ExAC gnomAD
CA392533897 rs1595714292	429	S>R		No	ClinGen Ensembl
CA7571841 rs780649369	431	A>P		No	ClinGen ExAC gnomAD
CA392533912 rs1355987492	431	A>V		No	ClinGen gnomAD
TCGA novel	433	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747494258 CA7571842	433	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769026860 CA7571844	434	L>S		No	ClinGen ExAC gnomAD
rs769026860 CA7571843	434	L>W		No	ClinGen ExAC gnomAD
TCGA novel	435	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1197882029 CA392533943	436	T>I		No	ClinGen TOPMed gnomAD
CA392533955 rs1312728198	438	E>G		No	ClinGen TOPMed
CA7571849 rs368589502	442	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746069739	443	K>missing	Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA392533995 rs1304533170	444	N>D		No	ClinGen TOPMed
CA7571850 rs765892861	444	N>K		No	ClinGen ExAC TOPMed gnomAD
CA270755458 rs866356206	444	N>S		No	ClinGen Ensembl
CA270755471 rs946486385	445	N>H		No	ClinGen TOPMed gnomAD
rs1042531037 CA270755476	445	N>S		No	ClinGen gnomAD
rs1042531037 CA392534003	445	N>T		No	ClinGen gnomAD
CA270755485 rs977100764	446	W>C		No	ClinGen TOPMed
rs759357424 CA7571852	447	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	448	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392534030 rs1420603133	449	P>R		No	ClinGen TOPMed
rs1397846716 CA392534045	451	D>G		No	ClinGen gnomAD
TCGA novel	451	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392534052 rs902686676	452	S>N		No	ClinGen TOPMed gnomAD
CA270755502 rs902686676	452	S>T		No	ClinGen TOPMed gnomAD
rs866415206 CA270755504	453	D>N		No	ClinGen gnomAD
rs866415206 CA392534057	453	D>Y		No	ClinGen gnomAD
rs372131972 CA270755514	455	D>E		No	ClinGen ESP gnomAD
CA392534072 rs1242947734	455	D>H		No	ClinGen TOPMed gnomAD
CA270755523 rs112791342	456	L>F		No	ClinGen Ensembl
rs112791342 CA392534078	456	L>I		No	ClinGen Ensembl
CA392534094 rs1318291798	458	S>Y		No	ClinGen gnomAD
rs769670557 COSM324183 CA270755531 COSM324184	459	D>E	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs773345768 CA270755540	460	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7571855 rs756003043	460	L>R		No	ClinGen ExAC gnomAD
CA7571854 rs773345768	460	L>V		No	ClinGen ExAC gnomAD
rs375455661 CA7571856	461	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392534144 rs375949452	465	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571859 rs192513157	466	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392534148 rs1216871467	466	A>V		No	ClinGen TOPMed
CA392534151 rs1423934236	467	V>L		No	ClinGen TOPMed gnomAD
rs1423934236 CA392534150	467	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs554429063 CA7571860	469	S>F		No	ClinGen ExAC TOPMed gnomAD
CA392534187 CA7571862 rs781727796	472	E>D		No	ClinGen ExAC gnomAD
CA392534181 rs1173213264	472	E>K		No	ClinGen gnomAD
CA7571863 rs748391617	476	K>M		No	ClinGen ExAC TOPMed gnomAD
CA392534220 rs1399149489	478	S>G		No	ClinGen gnomAD
rs1276140105 CA392534221	478	S>N		No	ClinGen TOPMed gnomAD
rs770206471 CA7571864	479	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1255363139 CA392534234	480	S>F		No	ClinGen gnomAD
rs777386819 CA7571865	480	S>P		No	ClinGen ExAC TOPMed gnomAD
CA7571866 rs748983925	483	S>G		No	ClinGen ExAC gnomAD
rs542254738 CA270755647	483	S>N		No	ClinGen 1000Genomes
rs1218168806 CA392534254	483	S>R		No	ClinGen gnomAD
CA270755654 rs866841718	486	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA270755661 rs1016967763	488	S>C		No	ClinGen Ensembl
CA7571867 rs202147586	489	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs773688651 CA7571868	489	A>V		No	ClinGen ExAC gnomAD
rs759100975 CA7571869	491	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1260145665 CA392534310	492	K>R		No	ClinGen gnomAD
rs200549369 CA270755694	493	N>K		No	ClinGen Ensembl
CA392534318 rs1435300425	493	N>S		No	ClinGen gnomAD
rs771839902 CA7571870	494	K>E		No	ClinGen ExAC TOPMed gnomAD
CA392534336 rs1566950134	496	A>T		No	ClinGen Ensembl
CA392534339 rs1566950146	496	A>V		No	ClinGen Ensembl
CA392534362 rs1422288646	499	S>R		No	ClinGen TOPMed
rs868468328 CA270755736	500	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	504	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571874 rs750642500	506	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7571875 rs763225247	506	D>V		No	ClinGen ExAC TOPMed gnomAD
COSM375615 COSM375614 rs750642500 CA392534406	506	D>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs766727684 CA7571876	507	Y>C		No	ClinGen ExAC gnomAD
CA392534423 rs1369396587	508	D>V		No	ClinGen gnomAD
rs369094470 CA270755752	510	I>V		No	ClinGen Ensembl
CA270755771 rs866246818	511	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	515	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571879 rs369826617	519	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs374314106 CA7571880	521	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377725533 CA7571881	524	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392534560 rs1219277058	528	Y>C		No	ClinGen TOPMed
CA7571883 rs749679263	529	A>E		No	ClinGen ExAC TOPMed gnomAD
rs770515155 CA7571885 CA392534575	530	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1453190864 CA392534573	530	D>G		No	ClinGen gnomAD
rs868052090 CA270755800	532	T>A		No	ClinGen TOPMed
rs1439183824 CA392534592	533	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1381048166 CA392534587	533	P>S		No	ClinGen TOPMed gnomAD
rs1381048166 CA392534589	533	P>T		No	ClinGen TOPMed gnomAD
rs754406867 CA270755806	534	L>F		No	ClinGen Ensembl
TCGA novel	535	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	535	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392534614 rs1351838637	536	H>Q		No	ClinGen TOPMed gnomAD
CA392534612 rs1157142633	536	H>R		No	ClinGen gnomAD
CA392534623 rs1172047760	538	Q>K		No	ClinGen TOPMed
CA7571887 rs201904954	539	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs914920988 CA270755819	540	D>G		No	ClinGen Ensembl
rs771670957 CA7571888	542	F>S		No	ClinGen ExAC TOPMed gnomAD
CA392534659 rs1448973017	543	T>A		No	ClinGen gnomAD
rs770296524 CA7571890	545	K>N		No	ClinGen ExAC TOPMed gnomAD
rs768743988 CA7571891	546	L>H		No	ClinGen ExAC TOPMed gnomAD
CA7571892 rs768743988 COSM1290405 COSM1290406	546	L>R	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1314366047 CA392534683	547	S>C		No	ClinGen gnomAD
rs371410172 CA7571893	548	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371410172 CA7571894	548	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751871290 CA7571895	548	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7571896 rs751871290	548	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1265265767 CA392534695	549	S>C		No	ClinGen TOPMed gnomAD
CA392534696 rs1265265767	549	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	550	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392534698 COSM3735491 COSM3735492 rs1258591399	550	E>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	551	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200498119 CA392534713	552	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA270755848 rs866109444	554	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	554	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767679628 CA7571897	555	K>R		No	ClinGen ExAC gnomAD
CA392534744 rs1239347928	556	L>F		No	ClinGen gnomAD
CA7571898 rs752809269	556	L>S		No	ClinGen ExAC gnomAD
CA7571901 rs754136964 COSM401556 COSM401555	558	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7571900 rs756568556	558	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA7571899 rs756568556	558	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1424682532 CA392534765	560	Y>D		No	ClinGen gnomAD
CA392534764 rs1424682532	560	Y>H		No	ClinGen gnomAD
CA7571902 rs757686520	560	Y>S		No	ClinGen ExAC
CA7571903 rs142320070	562	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1161074580 CA392534780	562	E>V		No	ClinGen gnomAD
CA7571904 rs745584076	563	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA392534791 rs1364441329	564	F>I		No	ClinGen gnomAD
rs1303701783 CA392534809	566	E>G		No	ClinGen TOPMed
CA392534826 rs1566950434	568	Q>L		No	ClinGen Ensembl
TCGA novel	570	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392534847 rs1376676775	571	T>A		No	ClinGen TOPMed
CA7571905 rs757815880	572	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7571906 rs779575535	573	T>S		No	ClinGen ExAC gnomAD
rs1399478367 CA392534872	575	G>R		No	ClinGen gnomAD
CA7571907 rs746538373	576	S>C		No	ClinGen ExAC gnomAD
rs1403259222 CA392534878	576	S>N		No	ClinGen TOPMed
CA392534882 rs768655755	576	S>R		No	ClinGen ExAC TOPMed gnomAD
CA392534888 rs1325459777	577	S>F		No	ClinGen gnomAD
rs202199076 CA392534895	579	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	580	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270755904 rs1056661186	580	S>P		No	ClinGen Ensembl
CA7571912 rs541524342	582	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1259201990 CA392534923	583	D>E		No	ClinGen gnomAD
rs1220853951 CA392534916	583	D>N		No	ClinGen gnomAD
CA7571915 rs370428263	584	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530116434 CA7571914	584	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374833103 CA392534933	585	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs754402524 CA7571918	587	W>R		No	ClinGen ExAC gnomAD
rs757540347 CA7571919	588	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs765674741 CA7571920	589	R>K		No	ClinGen ExAC gnomAD
CA7571922 rs758019097	590	K>E		No	ClinGen ExAC gnomAD
rs1408180832 CA392534968	591	Q>K		No	ClinGen gnomAD
rs1199889984 CA392534979	592	E>A		No	ClinGen TOPMed
rs868526038 CA270756003	592	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7571923 rs779586050	593	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746450467 CA7571924	595	A>P		No	ClinGen ExAC gnomAD
CA7571925 rs368256489	595	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs374413387 CA7571928	596	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM117006 rs773014396 CA7571929	597	L>M	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7571930 rs749053812	597	L>P		No	ClinGen ExAC gnomAD
rs1213275878 CA392535010	598	Y>C		No	ClinGen gnomAD
CA7571932 rs368599329	599	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs760731438 CA7571933	600	S>G		No	ClinGen ExAC gnomAD
rs1009127900 CA270756084	601	P>L		No	ClinGen Ensembl
rs1595715335 CA392535037	602	K>R		No	ClinGen Ensembl
CA392535047 rs1489434543	603	D>E		No	ClinGen gnomAD
CA392535062 rs1194080459	605	H>R		No	ClinGen gnomAD
CA7571935 rs777092375	608	G>E		No	ClinGen ExAC gnomAD
CA392535086 rs12437941	609	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1334110473 CA392535514	609	G>D		No	ClinGen TOPMed
rs12437941 CA392535085	609	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7571936 rs12437941 VAR_061873	609	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7571937 rs765683670	610	V>I		No	ClinGen ExAC TOPMed gnomAD
rs765683670 CA392535518	610	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1413348636 CA392535533	612	G>D		No	ClinGen gnomAD
CA392535554 rs1171265881	615	G>E		No	ClinGen TOPMed gnomAD
CA392535556 rs1171265881	615	G>V		No	ClinGen TOPMed gnomAD
CA392535566 rs1297227445	617	T>A		No	ClinGen gnomAD
CA7571940 rs766122505	617	T>I		No	ClinGen ExAC TOPMed gnomAD
CA392535565 rs1297227445	617	T>P		No	ClinGen gnomAD
CA392535594 rs1160170478	621	N>Y		No	ClinGen TOPMed
TCGA novel	623	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201356448 CA7571941	623	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384015909 CA392535620	625	V>L		No	ClinGen gnomAD
rs752174847 CA7571944	626	D>E		No	ClinGen ExAC gnomAD
CA7571943 COSM223771 rs780885996	626	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs977815317 CA270756236	628	G>A		No	ClinGen TOPMed
rs1258421105 CA392535649	629	M>K		No	ClinGen TOPMed
CA7571946 rs777579176	630	S>G		No	ClinGen ExAC gnomAD
rs749107200 CA7571947	630	S>N		No	ClinGen ExAC gnomAD
rs749107200 CA7571948	630	S>T		No	ClinGen ExAC gnomAD
rs923669600 CA270756315	631	N>D		No	ClinGen Ensembl
CA7571949 rs780233902	631	N>I		No	ClinGen ExAC gnomAD
rs747272558 CA7571950	633	M>I		No	ClinGen ExAC gnomAD
rs1214717629 CA392535685	635	C>R		No	ClinGen TOPMed
rs768897828 CA7571951	636	A>T		No	ClinGen ExAC TOPMed gnomAD
rs776642356 CA7571952	636	A>V		No	ClinGen ExAC gnomAD
CA392535713 rs1381676802	639	D>V		No	ClinGen TOPMed gnomAD
rs1191170023 CA392535710	639	D>Y		No	ClinGen gnomAD
CA7571953 rs576106768	640	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA270756365 rs369218589	640	R>W		No	ClinGen ESP TOPMed gnomAD
rs1246236277 CA392535722	641	S>N		No	ClinGen TOPMed
TCGA novel	642	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs916758345 CA270756373	642	H>R		No	ClinGen TOPMed gnomAD
CA270756375 rs948246508	643	Y>*		No	ClinGen gnomAD
TCGA novel	645	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571954 rs770266759	645	D>V		No	ClinGen ExAC gnomAD
CA392535764 rs1331735351	647	Q>*		No	ClinGen gnomAD
CA7571955 rs773658003	648	L>R		No	ClinGen ExAC gnomAD
CA392535781 rs1449194528	650	L>I		No	ClinGen TOPMed gnomAD
rs763361330 CA7571956	651	H>Q		No	ClinGen ExAC gnomAD
rs766895907 CA7571957	652	E>K		No	ClinGen ExAC gnomAD
CA270756400 rs532658962	653	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs532658962 CA7571958	653	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs759219393 CA7571959 COSM1562889 COSM1562890	654	L>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1290377542 CA392535827	656	P>L		No	ClinGen gnomAD
CA392535829 rs1467958194	657	W>R		No	ClinGen gnomAD
rs1334990761 CA392535845	659	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	660	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239945014 CA392535870	662	Q>*		No	ClinGen gnomAD
CA392535871 rs1239945014	662	Q>K		No	ClinGen gnomAD
rs755649624 CA7571963	667	G>R		No	ClinGen ExAC gnomAD
CA392535922 rs1286443759	669	D>V		No	ClinGen gnomAD
rs753770557 CA7571966	672	T>I		No	ClinGen ExAC gnomAD
rs753770557 CA7571965	672	T>N		No	ClinGen ExAC gnomAD
rs868079289 CA270756515	674	E>D		No	ClinGen Ensembl
CA270756510 rs368471404	674	E>G		No	ClinGen TOPMed gnomAD
rs1165345050 CA392535949	674	E>K		No	ClinGen gnomAD
rs371602717 CA7571967	677	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs745685280 CA7571968	677	D>V		No	ClinGen ExAC gnomAD
CA392535993 rs1328349680	680	T>S		No	ClinGen gnomAD
COSM1135674 CA270756592 rs896438228 COSM1135673	681	N>S	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1196170213 CA392536010	682	S>R		No	ClinGen TOPMed
CA7571970 rs376158849	683	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs768523149 CA270756611	683	L>P		No	ClinGen Ensembl
CA7571971 rs376158849	683	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	684	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769819494 CA7571972	684	F>Y		No	ClinGen ExAC gnomAD
CA392536028 rs1285026711	685	D>E		No	ClinGen gnomAD
rs773744479 CA7571973	687	Q>H		No	ClinGen ExAC gnomAD
CA392536059 rs1318605742	689	D>E		No	ClinGen gnomAD
CA392536056 rs1259901204	689	D>G		No	ClinGen gnomAD
rs1210957313 CA392536088	692	N>H		No	ClinGen TOPMed
rs891181154 CA270756618	692	N>S		No	ClinGen Ensembl
CA392536103 rs1242222333	693	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA392536124 rs1247868662	694	D>G		No	ClinGen TOPMed gnomAD
rs1008324303 CA270756625	701	C>G		No	ClinGen Ensembl
rs1008324303 CA392536216	701	C>R		No	ClinGen Ensembl
rs774802230 CA7571976	702	H>Q		No	ClinGen ExAC gnomAD
rs771593570 CA7571975	702	H>R		No	ClinGen ExAC TOPMed gnomAD
CA392536260 rs1163295130	704	D>V		No	ClinGen gnomAD
rs1426402802 CA392536275	705	L>R		No	ClinGen gnomAD
TCGA novel	708	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392536312 rs1167384627	708	D>Y		No	ClinGen gnomAD
rs1279671575 CA392536341	710	E>Q		No	ClinGen TOPMed
CA7571978 rs767276349	710	E>V		No	ClinGen ExAC gnomAD
rs1402777783 CA392536354	711	S>G		No	ClinGen TOPMed
rs752352686 CA7571979	712	Y>H		No	ClinGen ExAC gnomAD
rs1406890425 CA392536373	712	Y>S		No	ClinGen TOPMed
rs374125101 CA7571982	713	D>A		No	ClinGen ESP ExAC gnomAD
CA7571981 rs111986149	713	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392536422 rs1226546450	716	Q>*		No	ClinGen gnomAD
CA392536443 rs1249582653	717	D>E		No	ClinGen gnomAD
CA270756667 rs1022157152	717	D>G		No	ClinGen Ensembl
TCGA novel	717	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571983 rs377675779	718	D>N		No	ClinGen ESP ExAC gnomAD
rs765172397 CA392536464	719	N>I		No	ClinGen ExAC TOPMed gnomAD
rs765172397 CA7571984	719	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1173080403 CA392536476	720	S>Y		No	ClinGen TOPMed
CA7571985 rs750151644	721	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	724	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs978139629 CA270756727	724	P>R		No	ClinGen TOPMed
rs967962794 CA270756726	724	P>S		No	ClinGen gnomAD
rs967962794 CA392536525	724	P>T		No	ClinGen gnomAD
CA7571988 rs748365086	727	D>A		No	ClinGen ExAC gnomAD
rs1566951193 CA392536599	730	P>S		No	ClinGen Ensembl
rs139261319 CA7571989	731	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	733	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174415893 CA392536872	734	W>C		No	ClinGen gnomAD
rs149972563 CA7571991	735	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392536883 rs1433151023	736	G>D		No	ClinGen gnomAD
CA392536887 rs1300308797	737	Q>E		No	ClinGen gnomAD
CA7571993 rs199546727	737	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566951272 CA392536901	739	D>N		No	ClinGen Ensembl
rs1332815436 CA392536911	740	S>A		No	ClinGen gnomAD
rs146517963 CA7571996	744	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7571995 rs772616057	744	A>T		No	ClinGen ExAC gnomAD
CA7571997 rs146517963	744	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345264601 CA392536941	745	N>D		No	ClinGen gnomAD
CA392536959 rs1595716249	747	N>I		No	ClinGen Ensembl
CA270756810 rs868575867	748	E>K		No	ClinGen TOPMed
CA270756829 rs868575867	748	E>Q		No	ClinGen TOPMed
CA392536979 rs1486365320	750	Y>*		No	ClinGen gnomAD
CA392536974 rs1286324918	750	Y>H		No	ClinGen gnomAD
rs1204975231 CA392536982	751	Q>E		No	ClinGen TOPMed gnomAD
rs1204975231 CA392536981	751	Q>K		No	ClinGen TOPMed gnomAD
rs920156280 CA270756835	752	N>H		No	ClinGen Ensembl
rs1260258364 CA392536996	753	Q>E		No	ClinGen gnomAD
CA392537005 rs1595716304	754	N>Y		No	ClinGen Ensembl
CA270756843 rs909021779	755	Q>H		No	ClinGen TOPMed
rs761316166 CA270756889	756	L>F		No	ClinGen ExAC TOPMed gnomAD
CA392537030 rs1172830225	757	S>F		No	ClinGen TOPMed
rs765152238 CA392537032	758	M>L		No	ClinGen ExAC gnomAD
CA7572001 COSM962943 rs765152238 COSM962944	758	M>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA392537043 rs1452697919	759	M>T		No	ClinGen gnomAD
rs758164478 CA7572003	760	Y>C		No	ClinGen ExAC gnomAD
rs76762496 CA7572002	760	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7572004 rs554692204	761	R>*		No	ClinGen ExAC TOPMed gnomAD
rs554692204 CA7572005	761	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7572006 rs373845201	761	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs944079071 CA270756958	762	S>C		No	ClinGen Ensembl
COSM555521 COSM555522 rs778064943 CA392537093	766	L>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA392537116 rs1458550874	769	D>E		No	ClinGen TOPMed
rs1240585144 CA392537122	770	D>G		No	ClinGen TOPMed
rs368589839 CA270756965	773	D>G		No	ClinGen Ensembl
CA392537148 rs1207354400	774	A>S		No	ClinGen TOPMed
rs1368098303 CA392537152	774	A>V		No	ClinGen gnomAD
rs757473542 CA7572009	775	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779544231 CA7572010	776	P>H		No	ClinGen ExAC gnomAD
rs1238745420 CA392537168	777	K>R		No	ClinGen gnomAD
TCGA novel	780	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772667860 CA7572012	781	S>R		No	ClinGen ExAC gnomAD
CA392537202 rs1220645023	782	R>*		No	ClinGen TOPMed
CA392537204 rs1214822801	782	R>P		No	ClinGen TOPMed gnomAD
rs1214822801 CA392537203 COSM962947 COSM962948	782	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA392537218 rs1566951464	784	S>I		No	ClinGen Ensembl
rs201926907 CA7572013	785	I>T		No	ClinGen ExAC gnomAD
rs377174697 CA7572014	787	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377174697 CA392537236	787	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392537243 rs1408972746	788	S>Y		No	ClinGen gnomAD
CA392537250 rs768126072	789	D>G		No	ClinGen ExAC TOPMed
CA7572015 rs768126072	789	D>V		No	ClinGen ExAC TOPMed
CA7572016 rs776333033	790	K>E		No	ClinGen ExAC
CA7572018 rs761297606	790	K>R		No	ClinGen ExAC TOPMed
CA7572017 rs761297606	790	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1555403474 CA392537265 RCV000585134	792	F>L		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	793	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270757031 rs936898212	795	P>A		No	ClinGen TOPMed
CA392537291 rs1461793980	795	P>R		No	ClinGen gnomAD
TCGA novel	795	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572021 rs766358911	797	F>I		No	ClinGen ExAC gnomAD
CA270757055 rs374236768	798	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA392537309 rs1298293680	798	G>R		No	ClinGen gnomAD
CA7572022 rs374236768	798	G>V		No	ClinGen ESP ExAC gnomAD
CA392537314 rs1476171300	799	S>A		No	ClinGen Ensembl
TCGA novel	799	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270757063 rs899959296	799	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	801	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392537324 rs1358700388	801	L>V		No	ClinGen TOPMed
CA7572024 rs764212084	802	Q>K		No	ClinGen ExAC gnomAD
CA7572025 rs754165052	803	R>T		No	ClinGen ExAC TOPMed gnomAD
CA7572026 rs757381905	804	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757381905 CA392537342	804	A>T		No	ClinGen ExAC TOPMed gnomAD
CA392537348 rs1158356522	805	K>E		No	ClinGen TOPMed
CA392537376 rs1333416125	809	E>*		No	ClinGen gnomAD
CA392537380 rs1440719185	809	E>D		No	ClinGen TOPMed
TCGA novel	809	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392537386 rs1200568921	810	V>A		No	ClinGen gnomAD
CA392537394 rs1480360962	812	W>R		No	ClinGen gnomAD
rs995949776 CA270757114	813	N>S		No	ClinGen TOPMed gnomAD
CA7572028 rs750552915	814	K>R		No	ClinGen ExAC TOPMed gnomAD
CA392537420 rs1475379423	815	S>N		No	ClinGen gnomAD
CA270757127 rs1022104775	817	Q>E		No	ClinGen Ensembl
CA392537434 rs1164038691	817	Q>R		No	ClinGen gnomAD
CA7572029 rs561069154	818	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1467167051 CA392537440	818	S>N		No	ClinGen gnomAD
CA7572030 rs780615191	818	S>R		No	ClinGen ExAC gnomAD
CA392537452 rs1284885221	820	S>N		No	ClinGen TOPMed
CA392537460 rs747330747	821	G>A		No	ClinGen ExAC gnomAD
rs747330747 CA7572031	821	G>V		No	ClinGen ExAC gnomAD
CA392537466 rs1342990461	822	Y>C		No	ClinGen gnomAD
CA7572033 rs780799698	823	E>K		No	ClinGen ExAC gnomAD
CA392537482 rs1293098953	824	D>E		No	ClinGen gnomAD
CA7572034 rs747834913	824	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1354085166 CA392537485 COSM1517437 COSM1517436	825	S>R	lung Variant assessed as Somatic; 9.314e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7572035 rs141110614	825	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	826	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	830	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572038 rs770773077	831	G>V		No	ClinGen ExAC TOPMed gnomAD
rs201822096 CA7572040 COSM298864 COSM298863	834	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7572039 rs372140182	834	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs767389106 CA7572042	836	L>*		No	ClinGen ExAC gnomAD
CA7572041 rs751111042	836	L>*		No	ClinGen ExAC gnomAD
rs868432702 CA270757196	837	S>F		No	ClinGen Ensembl
rs367567925 CA7572044	837	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs371805209 CA7572046	839	S>P		No	ClinGen ESP ExAC gnomAD
CA392537578 rs1426210622	840	T>A		No	ClinGen gnomAD
CA7572048 rs758570117	843	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1177685604 CA392537597	843	E>K		No	ClinGen TOPMed gnomAD
CA7572049 rs752156842	848	L>F		No	ClinGen ExAC gnomAD
CA270757232 rs1006101643	850	S>F		No	ClinGen TOPMed
CA392537652 rs1373982004	851	D>A		No	ClinGen TOPMed gnomAD
rs755265425 CA7572050	851	D>H		No	ClinGen ExAC gnomAD
CA392537651 rs1373982004	851	D>V		No	ClinGen TOPMed gnomAD
rs781492363 CA7572051	853	Y>*		No	ClinGen ExAC gnomAD
CA392537665 rs1271225906	853	Y>C		No	ClinGen gnomAD
COSM1517430 CA392537666 rs1271225906 COSM1517431	853	Y>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM555520 rs375077921 CA392537671 COSM555519	854	T>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1373564 CA7572052 COSM1373563 rs375077921	854	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1348717851 CA392537677	855	E>G		No	ClinGen gnomAD
rs1183042279 CA392537681	856	P>T		No	ClinGen TOPMed
CA392537696 rs1476569092	858	Y>H		No	ClinGen TOPMed
CA7572055 rs748737181	859	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7572056 rs770528146	861	A>T		No	ClinGen ExAC gnomAD
CA7572057 rs774128347	861	A>V		No	ClinGen ExAC gnomAD
rs920104141 CA270757350	862	E>G		No	ClinGen Ensembl
CA7572061 rs189508138	863	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270757366 rs867395997	866	D>N		No	ClinGen Ensembl
rs765550632 CA392537760	867	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs765550632 CA7572062	867	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA270757386 rs966473354	869	E>D		No	ClinGen Ensembl
CA7572063 rs773539884	869	E>K		No	ClinGen ExAC
CA270757397 rs372148533	870	P>L		No	ClinGen ESP TOPMed gnomAD
rs1171282800 CA392537780	870	P>S		No	ClinGen gnomAD
rs552580740 CA270757398	872	A>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs1319469820 CA392537801	873	D>E		No	ClinGen TOPMed gnomAD
CA7572065 rs766520321	874	N>K		No	ClinGen ExAC gnomAD
CA7572064 rs377017274	874	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392537804 rs1400778128	874	N>Y		No	ClinGen TOPMed
CA7572066 rs751618334	876	T>I		No	ClinGen ExAC gnomAD
CA7572068 rs768022546	879	V>A		No	ClinGen ExAC gnomAD
rs1233681964 CA392537842	879	V>I		No	ClinGen gnomAD
rs1233681964 CA392537844	879	V>L		No	ClinGen gnomAD
rs752989412 CA7572069	880	E>G		No	ClinGen ExAC gnomAD
CA7572071 rs777384763	882	M>I		No	ClinGen ExAC gnomAD
rs756531946 CA7572070	882	M>T		No	ClinGen ExAC gnomAD
TCGA novel	883	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270757469 rs146719550	885	V>A		No	ClinGen 1000Genomes
CA270757430 rs369640641	885	V>I		No	ClinGen ESP TOPMed
rs1215439286 CA392537922	886	L>F		No	ClinGen gnomAD
CA7572073 rs756894719	887	A>T		No	ClinGen ExAC gnomAD
CA7572074 rs778438893	888	K>R		No	ClinGen ExAC TOPMed gnomAD
CA392537982 rs1239611873	892	R>W		No	ClinGen gnomAD
rs548329395 CA7572076	893	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775636802 CA7572077	894	S>G		No	ClinGen ExAC gnomAD
rs200592386 CA392538005	894	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1288826 COSM1288825 rs200592386 CA7572078	894	S>T	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7572079 rs768619147	895	I>M		No	ClinGen ExAC gnomAD
CA392538015 rs1167661429	895	I>V		No	ClinGen TOPMed gnomAD
rs1440261730 CA392538031	896	T>I		No	ClinGen gnomAD
TCGA novel	897	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337728060 CA392538064	899	D>E		No	ClinGen gnomAD
CA7572080 rs148869486	899	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763194286 CA7572081	901	Q>L		No	ClinGen ExAC gnomAD
rs1348191215 CA392538106	902	M>I		No	ClinGen gnomAD
CA7572082 rs766528314	902	M>T		No	ClinGen ExAC gnomAD
rs912843997 CA270757482	903	Q>R		No	ClinGen gnomAD
rs774427640 CA7572083	905	Y>*		No	ClinGen ExAC gnomAD
CA392538158 rs1423220320	906	D>E		No	ClinGen gnomAD
rs759613554 CA7572084	908	L>V		No	ClinGen ExAC gnomAD
CA392538188 rs1211243067	909	S>A		No	ClinGen TOPMed gnomAD
CA7572087 rs756443994	913	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1180567911 CA392538272	916	T>N		No	ClinGen TOPMed gnomAD
CA392538271 rs1488668493	916	T>S		No	ClinGen TOPMed
rs1180567911 CA392538274	916	T>S		No	ClinGen TOPMed gnomAD
rs921325834 CA270757528	917	P>L		No	ClinGen TOPMed gnomAD
CA270757506 rs796295940	917	P>S		No	ClinGen gnomAD
CA392538285 rs1190604914	918	Q>K		No	ClinGen gnomAD
CA392538299 rs1419178615	919	D>H		No	ClinGen gnomAD
rs200625028 CA7572088	919	D>V		No	ClinGen ExAC TOPMed gnomAD
CA392538308 rs1163424307	920	E>K		No	ClinGen gnomAD
CA270757533 rs569533982	921	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA392538347 rs1328374133	923	D>H		No	ClinGen gnomAD
rs147997234 CA7572090	924	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375769867 CA270757543	924	G>R		No	ClinGen ESP TOPMed
rs1243959825 CA392538384	926	A>G		No	ClinGen TOPMed gnomAD
rs1243959825 CA392538381	926	A>V		No	ClinGen TOPMed gnomAD
rs778436578 CA7572091	928	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201464225 CA7572093	929	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7572092 rs745380439	929	M>V		No	ClinGen ExAC TOPMed gnomAD
CA392538431 rs1595717643	930	V>A		No	ClinGen Ensembl
rs780115618 CA7572094	930	V>I		No	ClinGen ExAC gnomAD
CA392538436 rs1375617502	931	S>G		No	ClinGen TOPMed
CA392538474 rs372899337	933	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7572098 rs776434061 CA7572097	934	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	935	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595717674 CA392538486	935	L>V		No	ClinGen Ensembl
rs1486469531 CA392538519	937	P>L		No	ClinGen gnomAD
TCGA novel	937	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771114996 CA7572099	938	L>S		No	ClinGen ExAC gnomAD
CA7572100 rs774501089	939	N>I		No	ClinGen ExAC TOPMed gnomAD
rs774501089 CA392538538	939	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs867105397 CA392538546	940	E>*		No	ClinGen gnomAD
CA270757581 rs867105397	940	E>K		No	ClinGen gnomAD
rs759592886 CA7572101	941	T>A		No	ClinGen ExAC gnomAD
CA392538568 rs17731958	942	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17731958 VAR_052468 CA7572102	942	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392538591 rs1457429558	944	E>G		No	ClinGen gnomAD
CA7572103 rs775582205	945	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1475776147 CA392538600	945	M>K		No	ClinGen gnomAD
rs867561604 CA270757611	946	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7572105 rs761125826	947	I>M		No	ClinGen ExAC gnomAD
CA392538668 rs1412714101	950	D>E		No	ClinGen gnomAD
rs969097078 CA270757639	950	D>V		No	ClinGen Ensembl
rs1374552698 CA392538661	950	D>Y		No	ClinGen gnomAD
rs764523117 CA7572107	956	P>S		No	ClinGen ExAC gnomAD
CA7572108 rs754165879	957	E>D		No	ClinGen ExAC gnomAD
rs762153075 CA7572109	958	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7572110 rs764931691	959	P>S		No	ClinGen ExAC TOPMed gnomAD
CA392538782 rs1234523968	960	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7572111 rs750148104	960	V>L		No	ClinGen ExAC gnomAD
CA392538776 rs750148104	960	V>M		No	ClinGen ExAC gnomAD
CA392538789 rs1279171031	961	E>A		No	ClinGen gnomAD
CA392538791 rs1279171031	961	E>G		No	ClinGen gnomAD
rs995262757 CA270757700	962	I>L		No	ClinGen Ensembl
CA7572112 rs757948529	962	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	964	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270757709 rs775940197	964	K>R		No	ClinGen TOPMed gnomAD
CA7572113 COSM3420436 COSM3420437 rs779671419	966	K>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1448122161 COSM962958 CA392538859 COSM962957	967	R>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA392538864 rs1192533643	967	R>S		No	ClinGen gnomAD
rs191961732 COSM265756 COSM265755 CA7572115	969	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs767197055 CA7572116	969	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs191961732 CA7572114	969	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	972	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769532334 CA7572118	973	K>E		No	ClinGen ExAC gnomAD
rs1290451720 CA392538947	975	A>E		No	ClinGen gnomAD
rs1566952499 CA392538942	975	A>T		No	ClinGen Ensembl
rs779167860 CA7572119	976	A>D		No	ClinGen ExAC gnomAD
CA7572120 rs779167860	976	A>G		No	ClinGen ExAC gnomAD
TCGA novel	976	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392538979 rs1381525361	978	R>M		No	ClinGen TOPMed gnomAD
CA392538977 rs1381525361	978	R>T		No	ClinGen TOPMed gnomAD
rs772307473 CA7572121	979	A>V		No	ClinGen ExAC TOPMed gnomAD
CA392539007 rs1234405190	981	K>E		No	ClinGen gnomAD
TCGA novel	982	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270757811 rs911765186	983	Q>K		No	ClinGen gnomAD
rs775491898 CA7572122	985	A>E		No	ClinGen ExAC gnomAD
rs965619759 CA270757850	986	E>A		No	ClinGen gnomAD
rs1231488025 CA392539066	986	E>Q		No	ClinGen gnomAD
CA392539131 rs1459914073	991	I>N		No	ClinGen gnomAD
CA270757868 rs975357250	991	I>V		No	ClinGen Ensembl
rs970987698 CA270757877	993	A>D		No	ClinGen TOPMed
rs762215073 CA7572126	994	G>A		No	ClinGen ExAC gnomAD
CA271105022 rs371199628	995	D>E		No	ClinGen ESP gnomAD
rs977562715 CA271105021	995	D>V		No	ClinGen Ensembl
rs551918573 CA7572146	996	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA271105023 rs903206482	996	S>R		No	ClinGen TOPMed
CA392773284 rs1411610338	997	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	999	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572147 rs766122185	999	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7572149 rs759061883	1000	D>G		No	ClinGen ExAC gnomAD
rs774201022 CA7572148	1000	D>N		No	ClinGen ExAC gnomAD
CA7572150 rs766899290	1001	E>A		No	ClinGen ExAC gnomAD
COSM962964 CA392773321 CA7572151 COSM962963 rs374238210	1002	K>N	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1404965493 CA392773335	1003	A>P		No	ClinGen TOPMed
rs753823142 CA7572173	1004	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7572174 rs73405642	1004	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1457010156 CA392773345	1005	I>K		No	ClinGen TOPMed
rs764969215 CA7572175	1005	I>V		No	ClinGen ExAC gnomAD
CA392773356 rs1372060434	1007	S>G		No	ClinGen TOPMed
rs750252889 CA7572176	1007	S>N		No	ClinGen ExAC gnomAD
rs755097404 CA7572178	1008	G>D		No	ClinGen ExAC TOPMed gnomAD
rs755097404 CA7572177	1008	G>V		No	ClinGen ExAC TOPMed gnomAD
rs752710347 CA7572180	1011	L>V		No	ClinGen ExAC TOPMed gnomAD
CA392773385 rs1367458289	1011	L>W		No	ClinGen TOPMed
CA7572181 rs370037627	1012	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs749849752 CA7572182	1015	K>I		No	ClinGen ExAC gnomAD
CA392773411 rs749849752	1015	K>R		No	ClinGen ExAC gnomAD
CA7572183 rs771589811	1017	S>A		No	ClinGen ExAC gnomAD
CA392773434 rs76062035	1019	L>F		No	ClinGen gnomAD
rs76062035 CA271105087	1019	L>I		No	ClinGen gnomAD
CA271105088 rs998602128	1019	L>R		No	ClinGen Ensembl
CA7572186 rs373493676	1020	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7572185 rs746252539	1020	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs775271855 CA7572187	1021	V>M		No	ClinGen ExAC gnomAD
rs1354501333 CA392773453	1022	C>F		No	ClinGen TOPMed
rs1273301435 CA392773459	1023	G>D		No	ClinGen gnomAD
rs538582890 CA7572209	1026	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392774906 rs1215260528	1028	G>V		No	ClinGen TOPMed
CA392774909 rs1447823350	1029	L>F		No	ClinGen TOPMed
CA392774907 rs1447823350	1029	L>I		No	ClinGen TOPMed
rs1204029214 CA392774911	1029	L>P		No	ClinGen TOPMed gnomAD
rs544778834 CA392774924	1031	G>A		No	ClinGen gnomAD
CA271117420 rs544778834	1031	G>D		No	ClinGen gnomAD
CA392774921 rs1251495049	1031	G>S		No	ClinGen gnomAD
rs769614477 CA392774940	1033	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1229536963 CA392774942	1034	S>G		No	ClinGen TOPMed
rs773255518 CA7572211	1036	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766234232 COSM2217924 COSM2217923 CA7572213	1039	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7572214 rs751339807	1039	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760924641 CA392775005	1043	T>A		No	ClinGen ExAC TOPMed gnomAD
rs749125502	1043	T>L	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs749125502	1043	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs760924641 CA7572217	1043	T>S		No	ClinGen ExAC TOPMed gnomAD
rs764419641 CA7572218	1044	L>S		No	ClinGen ExAC gnomAD
CA392775019 rs1166192750	1045	P>R		No	ClinGen TOPMed
rs375977822 CA392775022	1046	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7572219 rs375977822	1046	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392775030 rs1339845683	1047	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392775027 rs1417405055	1047	V>I		No	ClinGen TOPMed
rs757473922 CA7572220	1048	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7572221 rs201176002	1048	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA271117421 rs370638278	1049	D>A		No	ClinGen ESP gnomAD
CA392775039 rs370638278	1049	D>G		No	ClinGen ESP gnomAD
CA392775036 rs1250190807	1049	D>N		No	ClinGen TOPMed
TCGA novel	1049	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227123056 CA392775046	1050	V>E		No	ClinGen TOPMed gnomAD
CA392775062 rs1271101593	1051	A>P		No	ClinGen TOPMed
rs765322920 CA7572241	1052	M>I		No	ClinGen ExAC gnomAD
rs761957166 CA7572240	1052	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1025980571 CA271117737	1053	T>I		No	ClinGen TOPMed gnomAD
CA7572264 rs759862621	1055	A>P		No	ClinGen ExAC gnomAD
rs759862621 CA7572265	1055	A>T		No	ClinGen ExAC gnomAD
CA7572266 rs191325765	1056	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs191325765 CA7572267	1056	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs777356905 CA271117738	1057	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7572271 rs182809015	1057	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM962966 CA7572270 rs182809015 COSM962965	1057	R>Q	large_intestine endometrium Variant assessed as Somatic; 4.654e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1664893 CA7572269 COSM1664894 rs777356905	1057	R>W	kidney Variant assessed as Somatic; 9.31e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1059	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392775123 rs1320417003	1060	G>E		No	ClinGen TOPMed
CA392775126 rs1477932694	1061	L>F		No	ClinGen gnomAD
CA7572272 rs745764602	1065	M>V		No	ClinGen ExAC gnomAD
rs547592814 CA271117740	1068	R>K		No	ClinGen Ensembl
CA7572273 rs772161689	1068	R>S		No	ClinGen ExAC TOPMed gnomAD
CA392775183 rs1341178512	1070	S>C		No	ClinGen gnomAD
rs770048378 CA7572276	1072	N>S		No	ClinGen ExAC gnomAD
CA392775202 rs1483566535	1073	N>K		No	ClinGen gnomAD
CA7572277 rs773359951	1073	N>Y		No	ClinGen ExAC gnomAD
CA392775204 rs1437258384	1074	E>K		No	ClinGen gnomAD
TCGA novel	1074	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774445424 CA7572280	1076	L>Q		No	ClinGen ExAC gnomAD
CA392771894 rs1209299493	1077	K>E		No	ClinGen gnomAD
rs1288394186 CA392771903	1078	M>L		No	ClinGen TOPMed gnomAD
CA271119350 rs373479652	1079	H>Q		No	ClinGen ExAC gnomAD
rs561425967 CA7572312	1080	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7572311 COSM1740212 rs561425967 COSM1740213	1080	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1246987303 CA392771948	1084	T>N		No	ClinGen gnomAD
rs1029329311 CA271119351	1086	Q>*		No	ClinGen TOPMed gnomAD
CA7572314 rs780800742	1086	Q>R		No	ClinGen ExAC gnomAD
rs1473830893 CA392771970	1087	A>V		No	ClinGen gnomAD
CA392771971 rs34909598	1088	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271119352 rs988276049	1090	Y>F		No	ClinGen Ensembl
rs772180835 CA7572319	1092	M>I		No	ClinGen ExAC gnomAD
rs760553303 CA7572318	1092	M>V		No	ClinGen ExAC TOPMed gnomAD
CA271119353 rs377284398	1093	S>T		No	ClinGen ESP TOPMed
CA392772013 rs1435461974	1094	S>F		No	ClinGen TOPMed gnomAD
rs775670591 CA7572320	1095	T>A		No	ClinGen ExAC gnomAD
CA392772025 rs1352129218	1096	I>M		No	ClinGen gnomAD
CA271119354 rs1016820402	1098	H>Y		No	ClinGen TOPMed
rs1350861180 CA392772057	1101	E>*		No	ClinGen TOPMed
rs148128694 CA7572323	1102	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392772071 rs1229605089	1103	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392772077 rs1390168125	1104	T>A		No	ClinGen TOPMed
CA7572324 rs563857639	1104	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271119355 rs926853143	1105	A>T		No	ClinGen Ensembl
CA392772089 rs1177653939	1106	T>A		No	ClinGen gnomAD
TCGA novel	1107	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380355948 CA392772105	1108	P>H		No	ClinGen gnomAD
CA392772111 rs1218959596	1109	T>I		No	ClinGen gnomAD
CA7572326 rs773043990	1110	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1430422227 CA392772135	1113	E>K		No	ClinGen TOPMed
CA392772144 rs1411960960	1114	C>R		No	ClinGen gnomAD
TCGA novel CA392772184 rs1414650879	1119	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1293681499 CA392772181	1119	W>S		No	ClinGen TOPMed
rs754812529 CA7572330	1121	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7572331 rs767493193	1122	A>S		No	ClinGen ExAC TOPMed gnomAD
CA392772209 rs1298290648	1124	Q>K		No	ClinGen TOPMed
CA392772220 rs1413055549	1125	G>D		No	ClinGen gnomAD
CA392772234 rs1372118294	1127	K>*		No	ClinGen gnomAD
rs1299940028 CA392772254	1130	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA271119357 rs908635094	1133	V>M		No	ClinGen TOPMed gnomAD
CA7572333 rs755953702	1134	K>T		No	ClinGen ExAC gnomAD
CA7572334 rs779075952	1135	C>R		No	ClinGen ExAC gnomAD
rs758672263 COSM962970 CA7572336 COSM962969	1137	E>K	Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1305786144 CA392772316	1138	K>N		No	ClinGen TOPMed
CA392772319 rs1428304686	1139	C>R		No	ClinGen TOPMed
CA392772329 rs1226194660	1140	Q>R		No	ClinGen gnomAD
CA271119359 rs866582846	1141	D>N		No	ClinGen Ensembl
TCGA novel	1145	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748498626 CA392772361	1145	A>G		No	ClinGen ExAC gnomAD
CA392772359 rs777249610	1145	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7572340 rs777249610	1145	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7572341 rs748498626	1145	A>V		No	ClinGen ExAC gnomAD
CA7572342 rs770318277	1146	D>N		No	ClinGen ExAC gnomAD
rs377726106 CA7572343	1148	L>V		No	ClinGen ESP ExAC gnomAD
CA7572344 rs762645407	1149	Q>H		No	ClinGen ExAC gnomAD
rs1173083604 CA392772409	1150	R>K		No	ClinGen TOPMed gnomAD
CA271121071 rs867529790	1152	A>E		No	ClinGen Ensembl
rs1321908326 CA392772437	1154	K>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1198436648 CA392772442	1155	S>G		No	ClinGen TOPMed
CA392772459 rs1388771298	1157	K>R		No	ClinGen TOPMed gnomAD
CA392772467 rs1458705861	1158	H>R		No	ClinGen TOPMed gnomAD
rs775005022 CA7572367	1158	H>Y		No	ClinGen ExAC gnomAD
CA7572368 rs201440683	1161	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1202352793 CA392772503	1163	K>N		No	ClinGen gnomAD
rs1344985620 CA392772500	1163	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392772507 rs1270053625	1164	T>S		No	ClinGen gnomAD
rs1236389226 CA392772520	1166	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	1169	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271121074 rs947599799	1172	K>Q		No	ClinGen TOPMed gnomAD
rs764028201 CA7572369	1172	K>R		No	ClinGen ExAC gnomAD
CA271121075 rs565769380	1174	R>S		No	ClinGen gnomAD
CA392772588 rs1376874899 CA392772586	1175	M>I		No	ClinGen gnomAD
rs1233564008 CA392772591	1176	K>E		No	ClinGen TOPMed
CA271121077 rs919333861	1176	K>R		No	ClinGen TOPMed
TCGA novel	1176	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753628174 CA271121078	1177	I>M		No	ClinGen ExAC TOPMed gnomAD
rs761729254 CA271121079	1178	R>G		No	ClinGen ExAC gnomAD
CA7572372 rs766485288	1179	E>K		No	ClinGen ExAC TOPMed gnomAD
rs376965914 CA271121080	1180	K>E		No	ClinGen gnomAD
rs1049075494 CA271121081	1181	N>T		No	ClinGen TOPMed gnomAD
rs755181555 CA7572375	1182	R>G		No	ClinGen ExAC TOPMed gnomAD
rs752836488 CA7572376	1182	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM3377718 COSM3377717 rs755181555 CA7572374	1182	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392772641 rs1329922171	1184	E>G		No	ClinGen gnomAD
CA7572378 rs778488641	1184	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1472146912 CA392772644	1185	V>I		No	ClinGen TOPMed
TCGA novel CA271121082 rs938251241	1187	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA392772668 rs1227905002	1188	V>E		No	ClinGen gnomAD
rs749601011 CA7572379	1189	I>T		No	ClinGen ExAC gnomAD
CA392772677 rs1210690827	1190	Q>K		No	ClinGen gnomAD
rs1184295209 CA392772697	1192	M>T		No	ClinGen TOPMed
TCGA novel	1193	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055375845 CA271121083	1193	F>S		No	ClinGen TOPMed
rs1255343615 CA392772715	1194	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7572381 rs779178889	1197	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7572383 rs771726938	1199	D>A		No	ClinGen ExAC gnomAD
TCGA novel	1199	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745475667 CA7572382	1199	D>N		No	ClinGen ExAC gnomAD
CA392772763 rs1471961392	1201	V>G	Variant assessed as Somatic; 4.733e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774917478 CA7572384	1205	K>N		No	ClinGen ExAC TOPMed gnomAD
CA392772797 rs746592678	1206	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7572385 rs746592678	1206	A>V		No	ClinGen ExAC TOPMed gnomAD
rs751210143 CA271121084	1208	K>E		No	ClinGen gnomAD
CA271121085 rs536522542	1209	Q>E		No	ClinGen Ensembl
rs761479111 CA7572388	1210	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1596108559 CA392772833	1212	L>V		No	ClinGen Ensembl
rs756919367 CA271121087	1213	D>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1213	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756919367 CA392772839	1213	D>G		No	ClinGen ExAC TOPMed gnomAD
rs756919367 CA7572389	1213	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1023572981 CA271121086	1213	D>Y		No	ClinGen Ensembl
TCGA novel	1214	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392772856 rs1391342198	1216	S>A		No	ClinGen gnomAD
CA392772865 rs1323586811	1217	K>M		No	ClinGen gnomAD
rs1304906690 CA392772860	1217	K>Q		No	ClinGen gnomAD
CA392772875 rs1245720366	1218	W>C		No	ClinGen gnomAD
rs1230806432 CA392772869	1218	W>R		No	ClinGen TOPMed
CA7572391 rs772901798	1222	I>L		No	ClinGen ExAC gnomAD
rs1207085415 CA392772907	1223	T>S		No	ClinGen gnomAD
rs1252422647 CA392772915	1224	I>M		No	ClinGen gnomAD
CA392772940 rs1180817824	1227	V>I		No	ClinGen gnomAD
rs746502724 CA7572403	1229	A>S		No	ClinGen ExAC gnomAD
rs939970811 CA271121189	1230	Q>E		No	ClinGen gnomAD
CA7572404 rs768191922	1230	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7572405 rs776032986	1231	G>A		No	ClinGen ExAC gnomAD
CA271121190 rs943126999	1231	G>R		No	ClinGen TOPMed gnomAD
rs943126999 CA392772963	1231	G>S		No	ClinGen TOPMed gnomAD
rs1400075196 CA392772973	1233	Q>E		No	ClinGen TOPMed
TCGA novel	1236	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466599112 CA392773019	1239	G>E		No	ClinGen gnomAD
CA392773026 rs1404041344	1240	S>C		No	ClinGen gnomAD
rs1218474595 CA392773031	1241	S>N		No	ClinGen gnomAD
rs1298630858 CA392773045	1243	P>A		No	ClinGen TOPMed gnomAD
rs1259128758 CA392773048	1243	P>R		No	ClinGen gnomAD
rs1298630858 CA392773046	1243	P>T		No	ClinGen TOPMed gnomAD
CA7572407 rs769628874	1246	T>I		No	ClinGen ExAC gnomAD
CA7572408 rs772991951	1247	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392773078 rs1312650189	1248	Q>R		No	ClinGen gnomAD
CA392773091 rs1596110313	1250	G>E		No	ClinGen Ensembl
CA392773114 rs1202990651	1253	K>R		No	ClinGen gnomAD
CA392773113 rs1202990651	1253	K>T		No	ClinGen gnomAD
rs1260625146 CA392773120	1254	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1254814566 CA392773138	1257	K>E		No	ClinGen TOPMed
TCGA novel	1257	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271121192 rs780555324	1258	T>A		No	ClinGen Ensembl
CA271121193 rs575557571	1259	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA7572411 rs775902456	1260	F>I		No	ClinGen ExAC gnomAD
rs1247100579 CA392773166	1261	G>*		No	ClinGen gnomAD
TCGA novel	1261	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271121194 rs531033797	1263	L>F		No	ClinGen Ensembl
rs1185190839 CA392773189	1264	N>I		No	ClinGen TOPMed gnomAD
CA392773188 rs1185190839	1264	N>S		No	ClinGen TOPMed gnomAD
rs900843910 CA271121195	1265	P>A		No	ClinGen TOPMed gnomAD
rs1241731663 CA392773206	1267	W>*		No	ClinGen TOPMed
rs1176342761 CA392773212	1268	D>N		No	ClinGen gnomAD
rs200312467 CA7572414	1270	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392773231 rs1458942263	1270	K>R		No	ClinGen gnomAD
CA7572426 rs777627907	1278	S>F		No	ClinGen ExAC
rs749068845 CA7572427	1279	T>R		No	ClinGen ExAC gnomAD
rs1352310808 CA392773524	1280	D>N		No	ClinGen gnomAD
CA392773532 rs770810832	1281	R>G		No	ClinGen ExAC gnomAD
rs774311458 COSM962974 CA7572429 COSM962973	1281	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA271124754 rs766860532	1282	I>M		No	ClinGen Ensembl
CA7572430 rs760924487	1282	I>V		No	ClinGen ExAC gnomAD
rs368196615 CA7572431	1283	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290193407 CA392773588	1289	E>A		No	ClinGen gnomAD
rs1484296394 CA392773592	1290	D>N		No	ClinGen gnomAD
CA7572434 rs199656689	1290	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA392773604 rs1596160510	1291	D>E		No	ClinGen Ensembl
CA271124755 rs374419666	1291	D>N		No	ClinGen ESP TOPMed
CA392773608 rs1469854344	1292	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7572435 rs750937295	1294	K>Q		No	ClinGen ExAC gnomAD
rs760168399 CA271124756	1298	K>R		No	ClinGen Ensembl
rs766676913 CA7572437	1299	Q>K		No	ClinGen ExAC gnomAD
rs751932040 CA7572438	1302	K>Q		No	ClinGen ExAC gnomAD
rs754554627 CA7572439	1302	K>R		No	ClinGen ExAC TOPMed gnomAD
CA392773695 rs1476488629	1304	E>G		No	ClinGen gnomAD
rs1372214445 CA392773704	1305	S>L		No	ClinGen gnomAD
rs751883204 CA271124758	1306	D>E		No	ClinGen Ensembl
rs1156525916 CA392773714	1307	D>Y		No	ClinGen TOPMed
rs1171090768 CA392773737	1310	G>A		No	ClinGen TOPMed gnomAD
rs1481937247 CA392773743	1311	Q>L		No	ClinGen TOPMed
rs540590852 CA7572440	1312	T>R		No	ClinGen ExAC TOPMed gnomAD
rs765805592 CA271124759	1313	I>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1313	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765805592 CA7572442	1313	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1316	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572443 rs777734668	1316	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392773778 rs1284396682	1317	R>K		No	ClinGen gnomAD
rs1284396682 CA392773780	1317	R>M		No	ClinGen gnomAD
TCGA novel	1321	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368603444 CA7572444	1323	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771006814 CA7572445	1325	V>I		No	ClinGen ExAC gnomAD
CA7572469 rs745638152	1332	R>K		No	ClinGen ExAC gnomAD
rs758171867 CA7572470	1337	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7572471 rs779933858	1337	A>V		No	ClinGen ExAC gnomAD
TCGA novel	1340	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478947926 CA392773955	1341	A>T		No	ClinGen gnomAD
rs1177081689 CA392773960	1341	A>V		No	ClinGen gnomAD
CA7572472 COSM1317013 COSM146076 rs748266855	1343	R>*	large_intestine Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7572473 COSM1478202 rs770064369 COSM1478201	1343	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7572474 rs773206998	1347	N>S		No	ClinGen ExAC gnomAD
CA7572476 rs771412454	1349	E>D		No	ClinGen ExAC gnomAD
rs749434160 CA7572475	1349	E>G		No	ClinGen ExAC gnomAD
CA392774015 rs1284549050	1350	I>K		No	ClinGen gnomAD
rs774886408 CA7572477	1350	I>M		No	ClinGen ExAC gnomAD
CA392774030 rs1270228757	1352	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA271125272 rs968394323	1353	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA271125273 rs576816444	1356	V>F		No	ClinGen 1000Genomes TOPMed
CA392774061 rs1204811388	1357	A>P		No	ClinGen TOPMed gnomAD
CA392774060 rs1204811388	1357	A>T		No	ClinGen TOPMed gnomAD
rs1179515404 CA392774067	1358	P>A		No	ClinGen TOPMed
CA392774081 rs1211695339	1360	H>D		No	ClinGen TOPMed
CA392774084 rs1200050329	1360	H>R		No	ClinGen TOPMed gnomAD
CA392774092 rs1479155865	1361	I>T		No	ClinGen gnomAD
CA392774089 rs1268141909	1361	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	1362	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1160674404 CA392774096	1362	Q>K		No	ClinGen gnomAD
CA392774107 rs1363909057	1363	Y>C		No	ClinGen gnomAD
rs1452519317 CA392774115	1364	T>I		No	ClinGen gnomAD
CA392774137 rs1407216416	1367	H>L		No	ClinGen TOPMed gnomAD
CA392774136 rs1407216416	1367	H>R		No	ClinGen TOPMed gnomAD
rs1383244168 CA392774134	1367	H>Y		No	ClinGen gnomAD
TCGA novel	1368	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867903803 CA392774143	1368	E>A		No	ClinGen Ensembl
CA271125276 rs867903803	1368	E>G		No	ClinGen Ensembl
rs1031411659 CA271125275	1368	E>K		No	ClinGen Ensembl
rs1305102742 CA392774191	1373	Y>F		No	ClinGen gnomAD
rs1243790282 CA392774187	1373	Y>H		No	ClinGen TOPMed
CA392774197 rs1247028358	1374	L>S		No	ClinGen gnomAD
CA7572490 rs756284002	1375	T>S		No	ClinGen ExAC gnomAD
rs537315150 CA7572491	1376	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7572492 rs749346155	1379	S>C		No	ClinGen ExAC gnomAD
CA392774243 rs1193623882	1381	G>D		No	ClinGen gnomAD
rs1480009147 CA392774242	1381	G>S		No	ClinGen gnomAD
CA271125544 rs926973915	1384	K>N		No	ClinGen TOPMed gnomAD
CA392774273 rs181205138	1386	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7572493 rs181205138	1386	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774445431 CA7572494	1387	E>K		No	ClinGen ExAC gnomAD
CA392774284 rs1419577681	1388	V>I		No	ClinGen gnomAD
TCGA novel	1390	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392774302 rs1443238471	1390	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7572495 rs746304565	1390	G>W		No	ClinGen ExAC gnomAD
CA7572497 rs775715790	1391	D>N		No	ClinGen ExAC gnomAD
rs775715790 CA392774304	1391	D>Y		No	ClinGen ExAC gnomAD
CA392774316 rs1461939020	1392	E>D		No	ClinGen gnomAD
CA392774321 rs937009192	1393	A>D		No	ClinGen TOPMed gnomAD
CA271125545 rs937009192	1393	A>G		No	ClinGen TOPMed gnomAD
rs1299393860 CA392774334	1395	K>*		No	ClinGen gnomAD
CA7572500 rs776465926	1399	D>G		No	ClinGen ExAC TOPMed gnomAD
rs776465926 CA392774366	1399	D>V		No	ClinGen ExAC TOPMed gnomAD
rs761593391 CA7572501	1400	D>V		No	ClinGen ExAC gnomAD
rs1296181847 CA392774376	1401	A>T		No	ClinGen gnomAD
rs1306802264 CA392774381	1401	A>V		No	ClinGen gnomAD
TCGA novel	1403	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572502 rs778164799 COSM326823 COSM326824	1404	E>D	lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749958616 CA7572503	1405	I>V		No	ClinGen ExAC gnomAD
CA7572504 rs758198461	1406	V>I		No	ClinGen ExAC gnomAD
CA392774414 rs1202630193	1407	D>H		No	ClinGen gnomAD
rs1240925585 CA392774423	1408	E>Q		No	ClinGen gnomAD
rs577348172 CA392774445	1411	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs577348172 CA7572506	1411	M>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM294931 COSM294930 CA7572507 rs370227736	1412	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs777938801 CA7572508	1412	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1168967055 CA392774461	1413	Y>C		No	ClinGen gnomAD
CA392774480 rs1470382704	1416	E>A		No	ClinGen gnomAD
rs1431525651 CA392774479	1416	E>Q		No	ClinGen gnomAD
rs1406954610 CA392774496	1418	I>S		No	ClinGen TOPMed
TCGA novel	1418	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392774521 rs1404249589	1422	M>V		No	ClinGen gnomAD
CA392774534 rs1433184728	1423	T>M		No	ClinGen gnomAD
CA7572515 rs374543071	1425	F>L		No	ClinGen ESP ExAC gnomAD
rs1177997616 CA392774567	1426	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs267604263 CA271128316	1427	C>Y		No	ClinGen gnomAD
rs1056076028 CA271128317	1428	L>V		No	ClinGen gnomAD
CA392774584 rs1165191714	1429	S>F		No	ClinGen TOPMed gnomAD
rs1165191714 CA392774582	1429	S>Y		No	ClinGen TOPMed gnomAD
rs780662161 CA7572516	1431	K>I		No	ClinGen ExAC gnomAD
CA271128318 rs894700924	1432	Y>C		No	ClinGen gnomAD
CA392774609 rs1442350436	1433	M>T		No	ClinGen gnomAD
CA392774606 rs1355767402	1433	M>V		No	ClinGen TOPMed gnomAD
rs769105524 CA7572519	1434	C>*		No	ClinGen ExAC TOPMed gnomAD
CA7572517 rs747308329	1434	C>S		No	ClinGen ExAC gnomAD
CA392774616 rs1370664668	1434	C>Y		No	ClinGen gnomAD
rs772589057 CA7572522	1436	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7572521 rs780996626	1436	G>S		No	ClinGen ExAC TOPMed gnomAD
rs751553806 CA392774637	1438	P>A		No	ClinGen ExAC gnomAD
rs751553806 CA7572525	1438	P>S		No	ClinGen ExAC gnomAD
rs1269881261 CA392774643	1439	A>D		No	ClinGen TOPMed
CA7572526 rs759500801	1439	A>T		No	ClinGen ExAC gnomAD
COSM3420448 COSM3420449 rs74718497 CA7572527	1440	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM191262 CA392774655 rs1385617855	1441	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs745368795 CA7572528	1442	S>I		No	ClinGen ExAC
rs745368795 CA271128319	1442	S>N		No	ClinGen ExAC
rs201050451 CA7572529	1443	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410487349 CA392774675	1444	L>F		No	ClinGen gnomAD
CA7572530 rs779255404	1444	L>M		No	ClinGen ExAC gnomAD
rs1327557226 CA392774687	1446	A>V		No	ClinGen gnomAD
CA392774692 rs1352266287	1447	N>S		No	ClinGen gnomAD
CA7572532 rs758548767	1450	A>T		No	ClinGen ExAC gnomAD
rs1245780696 CA392774714	1450	A>V		No	ClinGen gnomAD
TCGA novel	1451	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392774720 rs1341472004	1451	F>S		No	ClinGen TOPMed
rs527644180 CA7572533	1452	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1452	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs993996947 CA271128320	1453	A>G		No	ClinGen Ensembl
CA7572534 rs747474268	1455	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7572535 rs188766534	1456	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1272320080 CA392774756	1457	V>F		No	ClinGen gnomAD
rs1272320080 CA392774755	1457	V>L		No	ClinGen gnomAD
CA392774782 rs1456541676 CA392774780	1461	I>L		No	ClinGen TOPMed gnomAD
TCGA novel	1462	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572536 rs781631964	1463	V>F		No	ClinGen ExAC TOPMed gnomAD
CA392774803 rs1244046354	1464	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7572537 rs374629412	1467	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs374629412 CA392774821	1467	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392774819 rs1411009569	1467	D>H		No	ClinGen TOPMed
rs769553822 CA7572538	1468	R>*		No	ClinGen ExAC gnomAD
TCGA novel	1468	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202079449 CA7572539	1468	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202079449 CA392774826	1468	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271128321 rs202079449	1468	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1018177371 CA271128322	1470	A>G		No	ClinGen Ensembl
CA7572540 rs371399964	1470	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392774844 rs1420802160	1471	A>V		No	ClinGen gnomAD
rs770434036 CA7572541	1472	T>I		No	ClinGen ExAC gnomAD
CA392774866 rs1176697734	1475	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs866699012 CA271129484	1476	R>G		No	ClinGen Ensembl
CA392775236 rs1283960029	1476	R>K		No	ClinGen gnomAD
rs1369385841 CA392775241	1477	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7572553 rs781778226	1478	K>T		No	ClinGen ExAC gnomAD
CA7572554 rs748498493	1479	F>Y		No	ClinGen ExAC gnomAD
CA7572555 rs756539188	1480	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1204390894 CA392775285	1483	L>P		No	ClinGen gnomAD
rs368022954 CA7572556	1484	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1223166273 CA392775298	1485	Q>R		No	ClinGen gnomAD
TCGA novel	1489	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392775340 rs1168080762	1491	R>K		No	ClinGen gnomAD
rs755037904 CA271129486	1492	I>T		No	ClinGen gnomAD
CA271129485 rs1001764185	1492	I>V		No	ClinGen TOPMed
rs1006947924 CA271129487	1493	D>E		No	ClinGen TOPMed
CA392775354 rs1183534060	1493	D>G		No	ClinGen gnomAD
CA392775390 rs1399027801	1498	R>S		No	ClinGen gnomAD
CA7572575 rs778140647	1500	N>T		No	ClinGen ExAC gnomAD
CA271129689 rs564598852	1501	F>L		No	ClinGen 1000Genomes
CA392775427 rs1196330700	1502	P>S		No	ClinGen gnomAD
rs1032775909 CA271129691	1503	A>S		No	ClinGen TOPMed gnomAD
rs1032775909 CA392775431	1503	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1505	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271129692 rs919729211	1506	T>I		No	ClinGen gnomAD
CA392775456 rs919729211	1506	T>S		No	ClinGen gnomAD
rs749619544 CA7572576	1507	E>K		No	ClinGen ExAC gnomAD
rs1484517886 CA392775470	1508	R>S		No	ClinGen TOPMed
CA271129693 rs1007395653	1515	T>A		No	ClinGen TOPMed gnomAD
CA392775511 rs1007395653	1515	T>P		No	ClinGen TOPMed gnomAD
CA392775526 rs1168780228	1517	D>G		No	ClinGen gnomAD
CA392775549 rs1453663465	1521	S>G		No	ClinGen gnomAD
rs1302003965 CA392775553	1521	S>I		No	ClinGen TOPMed gnomAD
CA392775551 rs1302003965	1521	S>N		No	ClinGen TOPMed gnomAD
CA392775552 rs1302003965	1521	S>T		No	ClinGen TOPMed gnomAD
CA7572579 rs372584273	1522	I>V		No	ClinGen ESP ExAC gnomAD
CA392775566 rs1231618968	1523	T>I		No	ClinGen TOPMed
CA271129694 rs745352845	1524	F>I		No	ClinGen ExAC TOPMed gnomAD
CA7572580 rs745352845	1524	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1296254979 CA392775574	1525	F>I		No	ClinGen gnomAD
CA7572581 rs377063453	1526	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421119067 CA392775638	1532	L>Q		No	ClinGen gnomAD
TCGA novel	1534	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392775663 rs1229494637	1536	P>A		No	ClinGen TOPMed
CA271130289 rs990675812	1537	K>E		No	ClinGen TOPMed
rs371924314 CA7572608	1538	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1538	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572609 rs371924314	1538	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361567383 CA392775683	1539	S>N		No	ClinGen TOPMed
CA7572611 rs760717165	1539	S>R		No	ClinGen ExAC gnomAD
COSM700954 CA392775691 rs1374980736 COSM700953	1540	M>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA392775702 rs1303344588	1542	V>L		No	ClinGen gnomAD
rs1368063487 CA392775709	1543	K>E		No	ClinGen TOPMed
CA7572612 rs764632730	1544	D>E		No	ClinGen ExAC gnomAD
CA271130291 rs967396662	1545	C>Y		No	ClinGen Ensembl
CA7572613 rs754260646	1547	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7572614 rs762407325	1548	A>V		No	ClinGen ExAC gnomAD
CA7572615 rs765530679	1551	D>N		No	ClinGen ExAC gnomAD
rs1425575027 CA392775771	1552	S>C		No	ClinGen TOPMed
CA392775777 rs1481715437	1553	T>I		No	ClinGen gnomAD
CA7572617 rs758045935	1553	T>S		No	ClinGen ExAC gnomAD
CA392775789 rs1178015265	1555	K>R		No	ClinGen gnomAD
CA7572619 rs180943204	1556	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs779744526 CA7572618	1556	Y>C		No	ClinGen ExAC gnomAD
CA271130292 rs977903954	1556	Y>D		No	ClinGen TOPMed gnomAD
CA7572620 rs754483392	1558	F>L		No	ClinGen ExAC gnomAD
rs1192850342 CA392775824	1560	N>S		No	ClinGen TOPMed
CA7572621 rs780782919	1562	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1355797166 CA392775862	1565	Y>C		No	ClinGen gnomAD
CA392775876 rs1567198215	1567	Q>R		No	ClinGen Ensembl
TCGA novel	1568	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445102357	1571	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7572624 rs777645544	1571	P>L		No	ClinGen ExAC TOPMed gnomAD
CA271137037 rs376588982	1572	S>G		No	ClinGen ESP TOPMed
rs369848002 CA7572647	1572	S>I		No	ClinGen ESP ExAC gnomAD
rs1257514009 CA392776813	1573	K>R		No	ClinGen gnomAD
rs768924772 CA7572648	1575	Q>E		No	ClinGen ExAC gnomAD
rs748280992 CA7572650 COSM1517423 COSM1517422	1575	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776565395 CA7572649	1575	Q>P		No	ClinGen ExAC gnomAD
rs776565395 CA392776827	1575	Q>R		No	ClinGen ExAC gnomAD
rs1486422031 CA392776832	1576	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770259408 CA7572651	1578	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1207426880 CA392776847	1578	P>T		No	ClinGen TOPMed
CA7572653 rs763485342	1579	R>C		No	ClinGen ExAC gnomAD
rs763485342 CA392776851	1579	R>G		No	ClinGen ExAC gnomAD
CA7572654 rs771183953	1579	R>H		No	ClinGen ExAC TOPMed gnomAD
CA392776875 rs767268541	1582	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7572656 rs759046072	1582	Q>K		No	ClinGen ExAC gnomAD
CA392776872 rs1295634872	1582	Q>R		No	ClinGen TOPMed
rs752243429 CA7572658	1583	G>V		No	ClinGen ExAC gnomAD
CA392776892 rs755734029	1585	T>I		No	ClinGen ExAC gnomAD
rs755734029 CA7572659	1585	T>N		No	ClinGen ExAC gnomAD
rs936095190 CA271137038	1586	T>I		No	ClinGen gnomAD
rs763728280 CA7572660	1588	N>S		No	ClinGen ExAC gnomAD
CA392776913 rs1389492495	1589	L>M		No	ClinGen TOPMed
rs1389492495 CA392776914	1589	L>V		No	ClinGen TOPMed
rs757272005 CA7572662	1590	D>E		No	ClinGen ExAC gnomAD
rs753779038 CA7572661	1590	D>N		No	ClinGen ExAC gnomAD
CA7572666 rs781522321	1596	I>T		No	ClinGen ExAC gnomAD
rs1198455229 CA392776964	1596	I>V		No	ClinGen TOPMed gnomAD
rs1249355750 CA392776994	1600	V>D		No	ClinGen TOPMed
CA392776989 rs1396394374	1600	V>I		No	ClinGen TOPMed gnomAD
CA392776990 rs1396394374	1600	V>L		No	ClinGen TOPMed gnomAD
CA392777002 rs1215830263	1602	I>V		No	ClinGen gnomAD
rs748199260 CA7572667	1603	I>T		No	ClinGen ExAC
CA392777016 rs1260374328	1604	D>A		No	ClinGen gnomAD
rs267604264 CA271137039	1604	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	1605	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271137040 rs75860512	1606	D>E		No	ClinGen Ensembl
CA7572668 rs201320776	1608	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA392777048 rs1376661234	1608	T>N		No	ClinGen gnomAD
TCGA novel	1609	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476842489 CA392777049	1609	A>T		No	ClinGen gnomAD
TCGA novel	1611	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868262612 CA271137041	1612	P>S		No	ClinGen Ensembl
TCGA novel	1614	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392777085 rs1358698411	1615	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	1616	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392777684 rs1472939135	1616	Q>H		No	ClinGen TOPMed
TCGA novel	1617	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779524365 CA7572689	1619	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	1619	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572691 rs140831235	1623	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA271139831 COSM225358 rs267604265	1624	G>E	NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1317881633 CA392777758	1627	S>N		No	ClinGen gnomAD
COSM1177068 rs200137468 COSM1177067 CA271139833	1629	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs186988519 CA7572694	1631	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7572695 rs776264749	1631	M>T		No	ClinGen ExAC gnomAD
CA392777783 rs186988519	1631	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7572696 rs761431064	1632	W>*		No	ClinGen ExAC gnomAD
rs1268122446 CA392777801	1633	T>N		No	ClinGen TOPMed
CA392777817 rs1434438956	1635	F>L		No	ClinGen Ensembl
CA392777823 rs1217137491	1636	A>V		No	ClinGen TOPMed
CA7572697 rs765050196	1637	L>V		No	ClinGen ExAC gnomAD
CA392777829 rs1319191549	1638	D>H		No	ClinGen TOPMed
rs1173073766 CA392777861	1642	A>T		No	ClinGen gnomAD
rs1401224319 CA392777865	1642	A>V		No	ClinGen gnomAD
rs543294239 CA7572699	1644	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543294239 CA392777878	1644	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7572727 rs747341880	1645	E>D		No	ClinGen ExAC gnomAD
CA7572728 rs755351420	1646	H>R		No	ClinGen ExAC gnomAD
CA392777907 rs1413887116	1647	E>K		No	ClinGen gnomAD
rs1162107550 CA392777923	1649	Q>K		No	ClinGen TOPMed gnomAD
COSM3401834 COSM3401833 CA7572732 rs772778104	1650	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs561432351 CA7572731	1650	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748808713 CA7572733	1654	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770835714 CA7572734	1655	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1280848832 CA392777966	1655	T>N		No	ClinGen TOPMed
rs751995192 CA7572738	1656	D>N		No	ClinGen ExAC TOPMed gnomAD
CA392777983 rs1273334817	1657	Y>*		No	ClinGen TOPMed
rs762088614 CA7572739	1658	M>I		No	ClinGen ExAC gnomAD
CA7572740 rs201106528	1659	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA392778008 rs1199562736	1661	H>Y		No	ClinGen gnomAD
CA392778026 rs1257161474	1663	K>R		No	ClinGen gnomAD
CA392778030 rs1435934598	1664	V>I		No	ClinGen gnomAD
rs750490933 CA7572741	1666	W>L		No	ClinGen ExAC gnomAD
rs758587904 CA7572742	1668	Y>H		No	ClinGen ExAC gnomAD
rs752059809 CA7572744	1670	E>G		No	ClinGen ExAC gnomAD
rs1425181849 CA392778084	1671	Y>H		No	ClinGen gnomAD
CA7572745 rs202235638	1673	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7572747 rs368526580	1673	R>H		No	ClinGen ESP ExAC gnomAD
rs202235638 CA7572746	1673	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392778118 COSM555505 rs1297963504 COSM555506	1676	P>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA392778115 rs1336571886	1676	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372178734 CA7572749	1677	A>T		No	ClinGen ESP ExAC gnomAD
rs748767355 CA7572750	1677	A>V		No	ClinGen ExAC gnomAD
CA7572752 rs200464857	1679	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1269762 COSM1269763 rs770388293 CA7572751	1679	K>R	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs369987801 CA271150437	1680	D>G		No	ClinGen ESP gnomAD
CA271150436 rs867388287	1680	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA392778159 rs1337710960	1683	P>R		No	ClinGen gnomAD
CA392778155 rs1277869440	1683	P>T		No	ClinGen gnomAD
rs1220676580 CA392778163	1684	E>*		No	ClinGen gnomAD
rs772064244 CA7572754	1686	S>A		No	ClinGen ExAC gnomAD
CA392778493 rs1461231851	1688	W>C		No	ClinGen TOPMed
CA7572779 rs771350491	1693	V>L		No	ClinGen ExAC gnomAD
CA7572780 rs201134659	1696	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382949319 CA392778547	1696	W>R		No	ClinGen gnomAD
CA271151011 rs188725133	1698	D>H		No	ClinGen 1000Genomes gnomAD
TCGA novel	1700	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1700	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572782 rs768039530	1701	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA392775943 rs768039530	1701	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1567330597 CA392775955	1702	D>E		No	ClinGen Ensembl
CA392775952 rs1596480497	1702	D>H		No	ClinGen Ensembl
rs753106727 CA7572783	1702	D>V		No	ClinGen ExAC gnomAD
CA7572784 rs761267373	1703	V>A		No	ClinGen ExAC TOPMed gnomAD
rs761267373 CA271151013	1703	V>E		No	ClinGen ExAC TOPMed gnomAD
rs894736352 CA392775958	1703	V>L		No	ClinGen TOPMed gnomAD
CA271151012 rs894736352	1703	V>M		No	ClinGen TOPMed gnomAD
rs754267652 CA7572786	1705	M>I		No	ClinGen ExAC gnomAD
rs764308435 CA7572785	1705	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7572787 rs545497816	1706	E>G		No	ClinGen 1000Genomes ExAC gnomAD
COSM962994 rs1210051670 CA392775975 COSM962993	1706	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs7497814 CA271151015	1708	L>I		No	ClinGen ESP TOPMed gnomAD
CA392775999 rs1240442521	1709	H>Q		No	ClinGen TOPMed gnomAD
rs764917759 CA7572788	1709	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764960941 CA271151016	1710	G>A		No	ClinGen TOPMed
CA392776010 rs1181771575	1711	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA271151017 rs901377734	1713	G>E		No	ClinGen Ensembl
rs757803843 CA7572791	1714	R>I		No	ClinGen ExAC gnomAD
CA392776029 rs1271198428	1715	D>N		No	ClinGen TOPMed
rs779634605 CA7572792	1716	K>N		No	ClinGen ExAC gnomAD
TCGA novel	1716	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392776051 rs1460100162	1718	D>H		No	ClinGen gnomAD
rs373289799 CA7572793	1719	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392776108 COSM1373583 rs1415421209 COSM1373584	1724	S>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1484769724 CA392776113	1725	E>*		No	ClinGen gnomAD
rs1195951814 CA392776121	1726	H>Y		No	ClinGen gnomAD
rs746020902 CA392776168	1733	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746020902 CA7572819	1733	V>M		No	ClinGen ExAC TOPMed gnomAD
rs571277137 CA7572820	1734	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs775417558 CA7572821	1735	D>H		No	ClinGen ExAC gnomAD
rs1401235140 CA392776199	1738	A>P		No	ClinGen gnomAD
rs1298276560 CA392776201	1738	A>V		No	ClinGen gnomAD
rs1360787337 CA392776208	1739	Q>R		No	ClinGen gnomAD
rs1293854879 CA392776226	1742	Q>E		No	ClinGen gnomAD
rs1002569067 CA271151086	1742	Q>H		No	ClinGen Ensembl
rs1189465761 CA392776270	1748	K>Q		No	ClinGen TOPMed
rs1280175490 CA392776302	1752	C>R		No	ClinGen gnomAD
CA7572823 rs199581868	1753	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218834328 CA392776312	1753	P>R		No	ClinGen TOPMed gnomAD
rs777082179 CA7572824	1754	N>S		No	ClinGen ExAC gnomAD
rs533651114 CA271151088	1757	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs982703651 CA271151089	1759	S>C		No	ClinGen TOPMed gnomAD
CA392776353 rs1316010643	1760	H>D		No	ClinGen TOPMed
rs765524323 CA7572826	1760	H>R		No	ClinGen ExAC
CA7572827 rs773627933	1761	L>S		No	ClinGen ExAC gnomAD
rs762512471 CA7572828	1764	R>G		No	ClinGen ExAC
rs766115493 CA7572829	1765	F>L		No	ClinGen ExAC gnomAD
rs1274905736 CA392776396	1766	A>S		No	ClinGen TOPMed
rs547981570 CA7572830	1767	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1280706389 CA392776428	1769	I>S		No	ClinGen gnomAD
rs767927046 CA7572847	1769	I>V		No	ClinGen ExAC gnomAD
rs534419321 CA7572848	1770	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA271151772 rs772029461	1772	V>E		No	ClinGen Ensembl
CA392776446 rs1222075994	1772	V>M		No	ClinGen gnomAD
rs1314977005 CA392776452	1773	L>V		No	ClinGen gnomAD
TCGA novel	1778	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271151773 rs1017047715	1779	I>V		No	ClinGen TOPMed gnomAD
rs1205117691 CA392776496	1780	V>I		No	ClinGen gnomAD
CA392776516 rs1441468460	1783	D>Y		No	ClinGen TOPMed
rs1183051446 CA392776524	1784	F>L		No	ClinGen gnomAD
rs1474659286 CA392776566	1789	D>G		No	ClinGen gnomAD
rs1162440807 CA392776578	1791	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7572854 rs368592709	1792	N>K		No	ClinGen ESP ExAC TOPMed
CA7572855 rs757036793	1793	V>E		No	ClinGen ExAC gnomAD
CA392776614 rs1419309579	1794	P>L		No	ClinGen gnomAD
CA271152301 rs766952435	1794	P>S		No	ClinGen Ensembl
CA271152303 rs997751770	1795	C>F		No	ClinGen Ensembl
CA7572870 rs771918712	1798	M>V		No	ClinGen ExAC gnomAD
TCGA novel	1799	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348037613 CA392776648	1799	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775116855 CA7572871	1800	N>S		No	ClinGen ExAC gnomAD
rs1050316539 CA271152305	1801	I>S		No	ClinGen Ensembl
CA392776665 rs1311149178	1802	Q>K		No	ClinGen gnomAD
rs1429646691 CA392776677	1803	Q>R		No	ClinGen TOPMed
rs1236366538 CA392776689	1805	R>Q		No	ClinGen gnomAD
CA7572872 rs760299243	1805	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1269348617 CA392776700	1807	Q>*		No	ClinGen gnomAD
CA392776715 rs1283874167	1809	E>G		No	ClinGen gnomAD
rs1337283117 CA392776733	1811	M>I		No	ClinGen gnomAD
TCGA novel	1811	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369423827 CA7572874	1813	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs369423827 CA7572873	1813	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs990778093 CA271152306	1815	M>V		No	ClinGen TOPMed
TCGA novel	1817	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1822	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392777137 rs1430417062	1824	A>T		No	ClinGen TOPMed
rs1371080470 CA392777147	1825	S>T		No	ClinGen gnomAD
CA392777156 rs1253475871	1826	T>I		No	ClinGen gnomAD
rs1397182221 CA392777184	1830	E>D		No	ClinGen Ensembl
rs762778996 CA392777199	1833	V>F		No	ClinGen ExAC TOPMed gnomAD
rs762778996 CA7572898	1833	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1195769257 CA392777210	1834	K>N		No	ClinGen TOPMed gnomAD
rs1248498409 CA392777221	1836	S>N		No	ClinGen gnomAD
rs766197795 CA7572899	1838	V>I		No	ClinGen ExAC gnomAD
rs752870750 CA392777242	1840	D>N		No	ClinGen ExAC gnomAD
CA7572900 rs752870750	1840	D>Y		No	ClinGen ExAC gnomAD
CA392777254 rs1487437188	1841	E>D		No	ClinGen TOPMed
CA7572901 rs756304528	1841	E>V		No	ClinGen ExAC gnomAD
rs377334158 CA7572903	1844	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7572904 rs757769844	1845	T>A		No	ClinGen ExAC TOPMed gnomAD
CA392777275 rs757769844	1845	T>P		No	ClinGen ExAC TOPMed gnomAD
rs756388454 CA271153830	1846	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	1847	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392777298 rs1377553729	1848	E>V		No	ClinGen Ensembl
CA392777319 rs1245382258	1849	S>R		No	ClinGen TOPMed
CA392777326 rs1195747473	1850	F>C		No	ClinGen TOPMed
CA392777345 rs1596527632	1853	I>V		No	ClinGen Ensembl
CA392777368 rs1310578455	1856	E>G		No	ClinGen TOPMed gnomAD
rs372543707 CA271154663	1856	E>Q		No	ClinGen Ensembl
rs146318725 CA271154664	1857	C>R		No	ClinGen gnomAD
rs1020389294 CA392777377	1857	C>W		No	ClinGen TOPMed gnomAD
rs920105016 CA271154665	1857	C>Y		No	ClinGen TOPMed gnomAD
CA271154667 rs904611965	1860	Q>P		No	ClinGen TOPMed
CA392777407 rs1254716699 CA392777406	1861	M>I		No	ClinGen TOPMed gnomAD
rs1234610138 CA392777402	1861	M>L		No	ClinGen TOPMed
CA392777414 rs1454638727	1862	S>I		No	ClinGen gnomAD
CA7572918 rs760947645	1863	F>L		No	ClinGen ExAC TOPMed gnomAD
rs753934007 CA7572920	1864	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA392777434 rs1159199177	1865	L>P		No	ClinGen gnomAD
CA392777444 rs1327026473	1867	Q>K		No	ClinGen TOPMed
CA7572921 rs761756597	1868	M>I		No	ClinGen ExAC gnomAD
CA271154668 rs1000663714	1869	R>I		No	ClinGen TOPMed gnomAD
CA7572922 rs765428804	1870	A>P		No	ClinGen ExAC gnomAD
rs1318929085 CA392777484	1872	G>V		No	ClinGen gnomAD
TCGA novel	1875	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414166743 CA392777504	1875	T>I		No	ClinGen TOPMed
rs1414166743 CA392777502	1875	T>K		No	ClinGen TOPMed
TCGA novel	1875	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392777526 rs1442265111	1878	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758978907 CA7572924	1879	N>S		No	ClinGen ExAC gnomAD
CA392777547 rs1225503454	1881	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7572925 rs780557163	1883	M>V		No	ClinGen ExAC TOPMed gnomAD
CA392777572 rs1316536903 COSM3386951 COSM87468	1885	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7572926 rs751923212	1887	I>M		No	ClinGen ExAC TOPMed gnomAD
rs754633671 CA7572927	1888	V>A		No	ClinGen ExAC TOPMed gnomAD
CA392777602 rs1212848152	1890	R>G		No	ClinGen gnomAD
TCGA novel	1890	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1481592346 CA392777614	1891	S>C		No	ClinGen gnomAD
rs373824122 CA7572928	1892	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1893	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572929 rs747867155	1893	M>T		No	ClinGen ExAC gnomAD
CA392777632 rs1416906605	1894	D>G		No	ClinGen gnomAD
TCGA novel	1899	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377163291 CA7572931	1899	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1314872245 CA392778222	1903	S>L		No	ClinGen gnomAD
rs750593762 CA7572956	1903	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1414444134 CA392778228	1904	A>G		No	ClinGen TOPMed gnomAD
rs763536936 CA7572957	1904	A>T		No	ClinGen ExAC gnomAD
CA392778229 rs1414444134	1904	A>V		No	ClinGen TOPMed gnomAD
CA392778233 rs1282180281	1905	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA271156251 rs1045978059	1909	K>E		No	ClinGen TOPMed gnomAD
rs767039159 CA7572958	1909	K>N		No	ClinGen ExAC TOPMed gnomAD
COSM963004 COSM963003 CA392778273 rs1272120100	1911	V>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA392778294 rs1399899124	1914	R>Q		No	ClinGen TOPMed gnomAD
rs926012513 CA271156252	1915	V>A		No	ClinGen Ensembl
CA392778313 rs1566900780	1917	K>R		No	ClinGen Ensembl
rs1293672136 CA392778330	1919	L>F		No	ClinGen TOPMed
CA392778328 rs1485120925	1919	L>S		No	ClinGen gnomAD
rs755771306 CA7572963	1920	W>R		No	ClinGen ExAC gnomAD
CA7572964 rs777260351	1922	L>P		No	ClinGen ExAC gnomAD
rs1232493153 CA392778349	1922	L>V		No	ClinGen TOPMed
CA7572965 rs368403462	1923	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs770834015 CA7572966	1924	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7572967 rs778757529	1925	N>K		No	ClinGen ExAC gnomAD
CA392778379 rs1448231107	1927	I>L		No	ClinGen gnomAD
CA392778402 rs1376186661	1930	Q>*		No	ClinGen gnomAD
rs1357184936 CA392778405	1930	Q>L		No	ClinGen gnomAD
TCGA novel	1930	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7572969 rs771705012	1932	V>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1933	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347184309 CA392778441	1936	L>P		No	ClinGen gnomAD
CA392778445 rs1407563283	1937	T>S		No	ClinGen TOPMed
rs1269399105 CA392778458	1939	Q>E		No	ClinGen gnomAD
rs1293783198 CA392778461	1939	Q>R		No	ClinGen TOPMed gnomAD
rs1362915059 CA392778468	1940	T>R		No	ClinGen gnomAD
rs559979535 CA271156577 CA271156576	1941	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA392778580 rs1280810605	1944	M>I		No	ClinGen gnomAD
rs530340513 CA271156578	1945	I>V		No	ClinGen gnomAD
CA271156579 rs755981794	1946	F>L		No	ClinGen TOPMed gnomAD
rs753316803 CA7572982	1947	I>T		No	ClinGen ExAC TOPMed gnomAD
rs756705726 CA7572983	1948	A>T		No	ClinGen ExAC gnomAD
rs1215957248 CA392778614	1950	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA271156580 rs866558161	1952	L>P		No	ClinGen Ensembl
CA271156581 rs868730521	1953	G>R		No	ClinGen Ensembl
CA392778646 rs9302181	1954	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190745507 CA7572986	1955	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779696884 CA392778656	1956	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1234712475 CA392778654	1956	S>P		No	ClinGen gnomAD
rs779696884 CA7572987	1956	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	1958	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1960	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756905758 CA7573000	1961	H>D		No	ClinGen ExAC gnomAD
rs764647818 CA7573001	1962	M>L		No	ClinGen ExAC TOPMed gnomAD
rs764647818 CA392778706	1962	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1324689402 CA392778714	1963	I>V		No	ClinGen Ensembl
CA271157259 COSM1373589 rs947109345 COSM1373590	1964	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA392778720 rs947109345	1964	R>G		No	ClinGen TOPMed
rs376720061 CA7573002	1964	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376720061 CA7573003	1964	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7573004 rs780076508	1966	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1340304990 CA392778732	1966	D>Y		No	ClinGen gnomAD
CA7573005 rs751575786	1967	A>D		No	ClinGen ExAC gnomAD
rs754768206 CA7573006	1968	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7573007 rs781150107	1969	G>D		No	ClinGen ExAC gnomAD
COSM3816371 COSM3816370 CA7573008 rs186728296	1971	T>M	breast Variant assessed as Somatic; 9.296e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7573010 rs778845353	1972	P>A		No	ClinGen ExAC gnomAD
rs746009200 CA7573011	1974	Q>*		No	ClinGen ExAC gnomAD
CA392778780 rs772428204	1974	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA392778783 rs1448841435	1975	C>R		No	ClinGen TOPMed gnomAD
CA7573014 rs761181234	1976	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7573015 rs201231517	1976	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759571252 CA7573016	1978	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1399608717 CA392778819	1980	V>L		No	ClinGen gnomAD
CA7573017 rs769467002	1981	V>D		No	ClinGen ExAC gnomAD
CA392778836 rs1298222317	1983	A>D		No	ClinGen gnomAD
CA271157262 rs1046912384	1983	A>P		No	ClinGen Ensembl
rs1221513210 CA392778843	1984	T>I		No	ClinGen TOPMed
CA7573019 rs749869448	1985	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1036872405 CA271157263	1985	I>V		No	ClinGen TOPMed gnomAD
CA392778853 rs1596563947	1986	K>R		No	ClinGen Ensembl
rs770765957 CA7573058	1989	F>L		No	ClinGen ExAC gnomAD
CA392778895 rs1220834376	1990	H>R		No	ClinGen gnomAD
CA392778893 rs1322225942	1990	H>Y		No	ClinGen gnomAD
rs1263155818 CA392778909	1992	G>A		No	ClinGen gnomAD
CA271158721 rs965005887	1992	G>R		No	ClinGen Ensembl
rs1481296982 CA392778913	1993	G>E		No	ClinGen gnomAD
CA7573059 COSM700930 COSM700929 rs773976629	1995	G>C	lung Variant assessed as Somatic; 9.514e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs975096476 CA271158722	1995	G>D		No	ClinGen TOPMed gnomAD
rs975096476 CA392778927	1995	G>V		No	ClinGen TOPMed gnomAD
CA392778930 rs1435434437	1996	L>R		No	ClinGen TOPMed
CA7573062 rs775451835	1997	K>T		No	ClinGen ExAC gnomAD
CA7573063 rs760544996	2002	E>A		No	ClinGen ExAC gnomAD
rs199911407 TCGA novel CA7573064	2004	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753630567 CA7573065	2005	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753630567 CA392778997	2005	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1463552908 CA392779002	2006	D>G		No	ClinGen gnomAD
rs796645862 CA271158725	2007	L>F		No	ClinGen Ensembl
rs1308733201 CA392779009	2007	L>P		No	ClinGen gnomAD
CA392779010 rs1308733201	2007	L>R		No	ClinGen gnomAD
rs1350074878 CA392779011	2008	Q>E		No	ClinGen gnomAD
TCGA novel	2008	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2009	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7573066 rs758593287	2011	R>I		No	ClinGen ExAC gnomAD
CA392779032 rs758593287	2011	R>K		No	ClinGen ExAC gnomAD
rs188750094 CA7573067	2011	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs374231536 CA271158727	2012	Y>F		No	ClinGen ESP TOPMed gnomAD
CA392779047 rs1227547594	2013	A>V		No	ClinGen gnomAD
rs1158052391 CA392779060	2015	S>R		No	ClinGen gnomAD
rs1310408417 CA392779063	2016	L>V		No	ClinGen gnomAD
CA7573068 rs751811230	2017	Y>C		No	ClinGen ExAC gnomAD
rs1205190785 CA392779075	2018	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7573069 rs755001117	2018	T>I		No	ClinGen ExAC gnomAD
rs1212319512 CA392779091	2020	T>N		No	ClinGen TOPMed
CA7573071 rs748619710	2022	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs371933638 CA7573072	2023	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	2023	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2023	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371933638 CA271158729	2023	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368140835 CA392779118	2025	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368140835 CA7573073	2025	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749664284 CA271158731	2026	K>N		No	ClinGen ExAC TOPMed gnomAD
rs567479016 CA7573076	2029	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1373594 rs1169262936 COSM1373593 CA392779148	2029	I>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1428055426 CA392779159	2030	D>E		No	ClinGen TOPMed gnomAD
CA392779158 rs1295355596	2030	D>V		No	ClinGen TOPMed
rs372359198 CA7573077	2031	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA392779168 rs1304259346	2032	Q>*		No	ClinGen gnomAD
rs895897620 CA271158732	2033	T>I		No	ClinGen gnomAD
rs895897620 CA392779178	2033	T>S		No	ClinGen gnomAD
rs375655538 CA7573080	2035	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA392779189 rs1229106297	2035	Q>L		No	ClinGen gnomAD
rs141439711 CA7573100	2037	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7573101 COSM242671 rs746537779	2037	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA392779231 rs1201063184	2039	S>F		No	ClinGen gnomAD
CA392779234 rs1191413788	2040	K>E		No	ClinGen TOPMed
CA392779239 rs1247409003	2040	K>N		No	ClinGen TOPMed gnomAD
CA392779252 rs1170977676	2042	A>D		No	ClinGen gnomAD
rs746140625 CA7573104	2043	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1566944865 CA392779260	2044	G>S		No	ClinGen Ensembl
rs769510818 CA7573105	2046	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1462981205 CA392779297	2049	H>L		No	ClinGen gnomAD
rs1024722291 CA271165831	2050	V>G		No	ClinGen TOPMed
rs1468492412 CA392779306	2051	D>Y		No	ClinGen gnomAD
CA271165832 rs769976822	2052	I>L		No	ClinGen TOPMed gnomAD
TCGA novel	2052	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769976822 CA271165833	2052	I>V		No	ClinGen TOPMed gnomAD
CA392779322 rs1433696094	2053	T>S		No	ClinGen gnomAD
rs759743898 CA7573107	2054	A>T		No	ClinGen ExAC gnomAD
CA392779339 rs1229342518	2056	P>L		No	ClinGen gnomAD
rs541324087 CA7573108	2056	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7573109 rs752792341	2057	G>E		No	ClinGen ExAC gnomAD
rs201637437 CA7573110	2058	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	2060	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271165834 rs568170782	2061	H>N		No	ClinGen gnomAD
CA271165835 rs928325931	2062	K>E		No	ClinGen Ensembl
rs1196884537 CA392779387	2064	T>N		No	ClinGen TOPMed gnomAD
CA392779389 rs1196884537	2064	T>S		No	ClinGen TOPMed gnomAD
rs1377349937 CA392779393	2065	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7573113 rs373600547	2065	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779404459 CA7573114	2066	K>N		No	ClinGen ExAC gnomAD
CA7573137 rs765882349	2067	V>E		No	ClinGen ExAC gnomAD
rs750995078 COSM1323939 COSM1323938 CA7573138	2068	I>F	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA392779421 rs750995078	2068	I>V		No	ClinGen ExAC TOPMed gnomAD
rs374995000 CA7573140	2069	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305724190 CA392779426	2069	A>S		No	ClinGen gnomAD
rs374995000 CA7573139	2069	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751106454 CA7573141	2070	I>T		No	ClinGen ExAC gnomAD
rs367937950 CA7573142	2071	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA392779455 rs1596702950	2073	L>R		No	ClinGen Ensembl
CA392779482 rs1299899439	2077	T>A		No	ClinGen gnomAD
CA392779484 rs1342882826	2077	T>N		No	ClinGen TOPMed gnomAD
CA7573144 rs747706179	2078	T>K		No	ClinGen ExAC gnomAD
rs1272708228 CA392779502	2080	M>T		No	ClinGen gnomAD
rs1368354333 CA392779508	2081	F>L		No	ClinGen TOPMed
rs756016735 CA7573145 COSM1231762 COSM1231763	2082	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM346210 CA7573146 rs564799376 COSM346211	2082	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA392779540 rs1248585375	2086	E>Q		No	ClinGen gnomAD
rs1596703120 CA392779555	2088	C>G		No	ClinGen Ensembl
CA7573150 rs747194040	2088	C>S		No	ClinGen ExAC gnomAD
CA392779557 rs747194040	2088	C>Y		No	ClinGen ExAC gnomAD
rs1255569187 CA392779561	2089	I>V		No	ClinGen TOPMed
CA271166009 rs768969489	2091	G>*		No	ClinGen ExAC gnomAD
CA7573153 rs768969489	2091	G>R		No	ClinGen ExAC gnomAD
rs1474993081 CA392779578	2092	P>S		No	ClinGen TOPMed gnomAD
CA392779588 rs1323057523	2093	N>K		No	ClinGen gnomAD
rs187339294 CA7573154	2093	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1310327261 CA392779619	2098	K>Q		No	ClinGen TOPMed
rs1293590720 CA392779659	2103	T>I		No	ClinGen TOPMed gnomAD
CA392779669 rs1234327820	2105	T>S		No	ClinGen gnomAD
rs1398331754 CA392779675	2106	K>E		No	ClinGen TOPMed
CA392779687 rs1342544984 COSM470832 COSM470833	2107	S>N	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA392779695 rs1596703323	2108	N>I		No	ClinGen Ensembl
rs1210389822 CA392779697	2108	N>K		No	ClinGen gnomAD
CA7573157 rs773796645	2109	T>P		No	ClinGen ExAC gnomAD
CA392779711 rs1186088602	2110	W>C		No	ClinGen gnomAD
CA392779714 rs1390654479	2111	S>T		No	ClinGen TOPMed
rs1268921498 CA392779720	2112	P>S		No	ClinGen gnomAD
rs1433391926 CA392779725	2113	K>E		No	ClinGen gnomAD
CA7573160 rs766646719	2113	K>N		No	ClinGen ExAC gnomAD
rs763520820 CA7573158	2113	K>R		No	ClinGen ExAC gnomAD
rs1468530323 CA392779731	2114	Y>H		No	ClinGen gnomAD
rs1047894341 CA271166010	2115	N>D		No	ClinGen Ensembl
rs767199993 CA7573162	2115	N>S		No	ClinGen ExAC gnomAD
rs1566945902 CA392779749	2116	E>V		No	ClinGen Ensembl
rs752378148 CA7573163	2117	T>I		No	ClinGen ExAC gnomAD
CA392779772 CA392779771 rs1287186514	2119	Q>H		No	ClinGen TOPMed gnomAD
rs750345422 CA7573188	2123	G>*		No	ClinGen ExAC TOPMed gnomAD
rs750345422 CA7573187	2123	G>R		No	ClinGen ExAC TOPMed gnomAD
rs779998674 COSM963015 CA7573189 COSM963016	2127	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7573190 rs527318695	2127	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1439686586 CA392779838	2128	P>S		No	ClinGen gnomAD
rs1439686586 CA392779836	2128	P>T		No	ClinGen gnomAD
rs1304425603 CA392779847 COSM555487 COSM555488	2129	G>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs777691395 CA7573192	2130	A>D		No	ClinGen ExAC gnomAD
rs770868384 CA271166412	2130	A>S		No	ClinGen TOPMed
rs770868384 CA271166411	2130	A>T		No	ClinGen TOPMed
rs770948840 CA7573194	2133	L>I		No	ClinGen ExAC
rs1388607222 CA392779878	2134	H>Q		No	ClinGen TOPMed
CA392779891 rs1566947750	2136	S>L		No	ClinGen Ensembl
CA392779892 rs1343606394	2137	V>I		No	ClinGen gnomAD
CA7573195 rs774872806	2139	D>A		No	ClinGen ExAC gnomAD
rs1228505273 CA392779906	2139	D>N		No	ClinGen gnomAD
rs1202827841 CA392779949	2144	R>S		No	ClinGen gnomAD
TCGA novel	2145	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760050642 CA392779966	2147	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760050642 CA7573196	2147	R>G		No	ClinGen ExAC gnomAD
CA7573198 rs772360503	2147	R>L		No	ClinGen ExAC TOPMed gnomAD
CA392779967 rs772360503	2147	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM963017 rs772360503 CA7573197 COSM963018	2147	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760310165 CA7573199	2149	I>L		No	ClinGen ExAC gnomAD
CA392779978 rs1378594482	2149	I>T		No	ClinGen TOPMed
COSM87473 CA7573201 rs753460509 COSM1373603	2150	G>R	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1432243257 CA392779990	2151	M>T		No	ClinGen TOPMed
rs761335048 CA7573203	2152	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1359591058 CA392780004	2153	V>A		No	ClinGen gnomAD
CA392780002 rs1177966769	2153	V>F		No	ClinGen gnomAD
rs764663814 CA7573204	2155	Q>H		No	ClinGen ExAC gnomAD
rs1367311179 TCGA novel CA392780031	2157	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs201847330 CA7573207	2159	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201847330 CA7573206	2159	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1296280316 CA392780046	2160	A>T		No	ClinGen gnomAD
CA7573208 rs751446706	2160	A>V		No	ClinGen ExAC gnomAD
rs1313078256 CA392780065	2162	K>N		No	ClinGen gnomAD
rs778017912 CA7573210	2162	K>R		No	ClinGen ExAC gnomAD
CA392780067 CA392780068 rs1203465340	2163	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	2164	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749496546 CA7573211	2164	S>R		No	ClinGen ExAC gnomAD
CA392780083 rs1189265215	2165	Y>C		No	ClinGen TOPMed gnomAD
rs1256369452 CA392780080	2165	Y>H		No	ClinGen TOPMed
rs778863904 CA7573213	2166	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1229276013 CA392780092	2167	A>T		No	ClinGen TOPMed
CA271166415 rs887547800	2167	A>V		No	ClinGen TOPMed
rs1016841724 CA271166417	2168	W>C		No	ClinGen TOPMed
rs746373752 CA7573214	2168	W>R		No	ClinGen ExAC gnomAD
CA7573215 rs772629527	2170	P>A		No	ClinGen ExAC gnomAD
rs529812728 CA392780115	2170	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529812728 CA7573216	2170	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150316513 CA7573218	2172	L>M		No	ClinGen 1000Genomes ExAC TOPMed
CA392780125 rs1464847750	2172	L>P		No	ClinGen TOPMed
rs1566947939 CA392780133	2173	K>N		No	ClinGen Ensembl
CA392780130 rs1256506700	2173	K>R		No	ClinGen gnomAD
CA392780142 rs1357122079	2175	I>L		No	ClinGen TOPMed
rs896626870 CA271166419	2175	I>S		No	ClinGen TOPMed gnomAD
rs372932752 CA7573220	2176	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	2176	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761374080 CA7573221	2177	M>I		No	ClinGen ExAC gnomAD
rs1425552184 CA392780154	2177	M>V		No	ClinGen TOPMed
rs764798743 CA7573222	2178	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1256753989 CA392780161	2178	D>Y		No	ClinGen TOPMed
rs776138643 CA7573217	2180	T>K		No	ClinGen ExAC
CA7573223 rs772654420	2181	G>R		No	ClinGen ExAC gnomAD
CA7573224 rs769532196	2183	T>I		No	ClinGen ExAC TOPMed gnomAD
CA271166421 rs769532196	2183	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1276462855 CA392780200	2184	I>V		No	ClinGen TOPMed
rs1239370405 CA392780208	2185	L>P		No	ClinGen gnomAD
CA7573226 rs569920196	2185	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7573227 rs754771964	2186	R>T		No	ClinGen ExAC gnomAD
CA7573228 rs767232144	2187	I>T		No	ClinGen ExAC gnomAD
rs1013875695 CA271166422	2188	L>F		No	ClinGen TOPMed
CA392780232 rs1284198998	2189	S>F		No	ClinGen gnomAD
rs757490737 CA7573230	2192	T>I		No	ClinGen ExAC
rs1480262193 CA392780267	2194	D>E		No	ClinGen TOPMed gnomAD
rs986509252 CA271166423	2195	D>G		No	ClinGen TOPMed
CA7573231 rs538945897	2195	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA392780270 rs538945897	2195	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
VAR_067541 CA7573232 rs146433220	2196	V>A	rare variant; may act as a phenotype modifier in EIEE13 patients carrying SCN8A mutations [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1247463635 CA618507689	2197	A>*		No	ClinGen gnomAD
CA7573233 rs758875435	2197	A>V		No	ClinGen ExAC gnomAD
CA7573236 rs768996239	2201	V>G		No	ClinGen ExAC
rs747524451 CA7573235	2201	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776923603 CA7573238	2202	R>T		No	ClinGen ExAC gnomAD
CA271166425 rs534739856	2205	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7573239 rs534739856	2205	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172358186 CA392780346	2207	T>A		No	ClinGen TOPMed gnomAD
rs1229400946 CA392780350	2207	T>R		No	ClinGen gnomAD
TCGA novel	2207	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566948167 CA392780353	2208	R>K		No	ClinGen Ensembl
rs1279451476 CA392780356	2208	R>S		No	ClinGen gnomAD
rs769379015 CA7573242	2209	S>A		No	ClinGen ExAC gnomAD
rs772816747 CA7573243	2210	T>N		No	ClinGen ExAC gnomAD
CA7573244 rs762511343	2211	E>D		No	ClinGen ExAC gnomAD
rs946265911 CA271166426	2211	E>G		No	ClinGen Ensembl
CA271166427 rs1041881560	2212	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392780378 rs1369023263	2212	E>D		No	ClinGen TOPMed
CA7573245 rs766010968	2212	E>G		No	ClinGen ExAC gnomAD
rs1041881560 CA392780375	2212	E>Q		No	ClinGen gnomAD
CA392780384 rs1566948228	2213	S>T		No	ClinGen Ensembl
rs928772758 CA271166428	2214	A>T		No	ClinGen TOPMed

No associated diseases with Q8NB66

7 regional properties for Q8NB66

Type	Name	Position	InterPro Accession
domain	C2 domain	1203 - 1329	IPR000008-1
domain	C2 domain	2044 - 2171	IPR000008-2
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	1097 - 1147	IPR002219
domain	MUN domain	1539 - 2028	IPR010439
domain	Munc13 homology 1	1637 - 1780	IPR014770
domain	Mammalian uncoordinated homology 13, domain 2	1886 - 2028	IPR014772
domain	Protein Unc-13, C2B domain	1220 - 1346	IPR037302

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane ; Peripheral membrane protein Presynaptic cell membrane ; Peripheral membrane protein	Localized to presynaptic structures
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
calyx of Held	The terminal specialization of a calyciferous axon which forms large synapses in the mammalian auditory central nervous system.
neuromuscular junction	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
parallel fiber to Purkinje cell synapse	An excitatory synapse formed by the parallel fibers of granule cells synapsing onto the dendrites of Purkinje cells.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynaptic active zone	A specialized region of the plasma membrane and cell cortex of a presynaptic neuron; encompasses a region of the plasma membrane where synaptic vesicles dock and fuse, and a specialized cortical cytoskeletal matrix.
presynaptic active zone cytoplasmic component	A specialized region below the presynaptic membrane, characterized by electron-dense material, a specialized cytoskeletal matrix and accumulated (associated) synaptic vesicles.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.
terminal bouton	Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it.

5 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
diacylglycerol binding	Binding to a diacylglycerol, a diester of glycerol and two fatty acids.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.
syntaxin-1 binding	Binding to a syntaxin-1 SNAP receptor.

9 GO annotations of biological process

Name	Definition
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
dense core granule priming	A process that converts unprimed dense core granules (DCVs) to a pool of primed vesicles that are capable of fusing with the plasma membrane (fusion-competent) and thereby releasing their contents. Priming typically occurs after docking.
negative regulation of synaptic plasticity	A process that decreases synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
neuromuscular junction development	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction.
presynaptic dense core vesicle exocytosis	The secretion of molecules (e.g. neuropeptides and neuromodulators such as serotonin and dopamine) contained within a membrane-bounced dense in response to increased presynaptic cytosolic calcium levels.
synaptic transmission, glutamatergic	The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
synaptic vesicle docking	The initial (indirect) attachment of a synaptic vesicle membrane to the presynaptic active zone membrane, mediated by proteins protruding from the membrane and proteins of the presynaptic active zone cytoplasmic component. Synaptic vesicle tethering is the first step in this process.
synaptic vesicle maturation	Steps required to form an initiated synaptic vesicle into a fully formed and transmissible synaptic vesicle.
synaptic vesicle priming	A process that converts synaptic vesicles to a state of competence for calcium triggered fusion with the active zone membrane by bringing the two membranes into very close proximity. Priming typically (but not always) occurs after docking (Jahn and Fasshauer, 2012). Primed vesicles are also capable of spontaneously fusing with the active zone membrane.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UPW8	UNC13A	Protein unc-13 homolog A	Homo sapiens (Human)	SS
O14795	UNC13B	Protein unc-13 homolog B	Homo sapiens (Human)	SS
Q9Z1N9	Unc13b	Protein unc-13 homolog B	Mus musculus (Mouse)	SS
Q4KUS2	Unc13a	Protein unc-13 homolog A	Mus musculus (Mouse)	SS
Q8K0T7	Unc13c	Protein unc-13 homolog C	Mus musculus (Mouse)	SS
Q62768	Unc13a	Protein unc-13 homolog A	Rattus norvegicus (Rat)	SS
Q62769	Unc13b	Protein unc-13 homolog B	Rattus norvegicus (Rat)	SS
Q62770	Unc13c	Protein unc-13 homolog C	Rattus norvegicus (Rat)	SS
P27715	unc-13	Phorbol ester/diacylglycerol-binding protein unc-13	Caenorhabditis elegans	EV

10	20	30	40	50	60
MVANFFKSLI	LPYIHKLCKG	MFTKKLGNTN	KNKEYRQQKK	DQDFPTAGQT	KSPKFSYTFK
70	80	90	100	110	120
STVKKIAKCS	STHNLSTEED	EASKEFSLSP	TFSYRVAIAN	GLQKNAKVTN	SDNEDLLQEL
130	140	150	160	170	180
SSIESSYSES	LNELRSSTEN	QAQSTHTMPV	RRNRKSSSSL	APSEGSSDGE	RTLHGLKLGA
190	200	210	220	230	240
LRKLRKWKKS	QECVSSDSEL	STMKKSWGIR	SKSLDRTVRN	PKTNALEPGF	SSSGCISQTH
250	260	270	280	290	300
DVMEMIFKEL	QGISQIETEL	SELRGHVNAL	KHSIDEISSS	VEVVQSEIEQ	LRTGFVQSRR
310	320	330	340	350	360
ETRDIHDYIK	HLGHMGSKAS	LRFLNVTEER	FEYVESVVYQ	ILIDKMGFSD	APNAIKIEFA
370	380	390	400	410	420
QRIGHQRDCP	NAKPRPILVY	FETPQQRDSV	LKKSYKLKGT	GIGISTDILT	HDIRERKEKG
430	440	450	460	470	480
IPSSQTYESM	AIKLSTPEPK	IKKNNWQSPD	DSDEDLESDL	NRNSYAVLSK	SELLTKGSTS
490	500	510	520	530	540
KPSSKSHSAR	SKNKTANSSR	ISNKSDYDKI	SSQLPESDIL	EKQTTTHYAD	ATPLWHSQSD
550	560	570	580	590	600
FFTAKLSRSE	SDFSKLCQSY	SEDFSENQFF	TRTNGSSLLS	SSDRELWQRK	QEGTATLYDS
610	620	630	640	650	660
PKDQHLNGGV	QGIQGQTETE	NTETVDSGMS	NGMVCASGDR	SHYSDSQLSL	HEDLSPWKEW
670	680	690	700	710	720
NQGADLGLDS	STQEGFDYET	NSLFDQQLDV	YNKDLEYLGK	CHSDLQDDSE	SYDLTQDDNS
730	740	750	760	770	780
SPCPGLDNEP	QGQWVGQYDS	YQGANSNELY	QNQNQLSMMY	RSQSELQSDD	SEDAPPKSWH
790	800	810	820	830	840
SRLSIDLSDK	TFSFPKFGST	LQRAKSALEV	VWNKSTQSLS	GYEDSGSSLM	GRFRTLSQST
850	860	870	880	890	900
ANESSTTLDS	DVYTEPYYYK	AEDEEDYTEP	VADNETDYVE	VMEQVLAKLE	NRTSITETDE
910	920	930	940	950	960
QMQAYDHLSY	ETPYETPQDE	GYDGPADDMV	SEEGLEPLNE	TSAEMEIRED	ENQNIPEQPV
970	980	990	1000	1010	1020
EITKPKRIRP	SFKEAALRAY	KKQMAELEEK	ILAGDSSSVD	EKARIVSGND	LDASKFSALQ
1030	1040	1050	1060	1070	1080
VCGGAGGGLY	GIDSMPDLRR	KKTLPIVRDV	AMTLAARKSG	LSLAMVIRTS	LNNEELKMHV
1090	1100	1110	1120	1130	1140
FKKTLQALIY	PMSSTIPHNF	EVWTATTPTY	CYECEGLLWG	IARQGMKCLE	CGVKCHEKCQ
1150	1160	1170	1180	1190	1200
DLLNADCLQR	AAEKSSKHGA	EDKTQTIITA	MKERMKIREK	NRPEVFEVIQ	EMFQISKEDF
1210	1220	1230	1240	1250	1260
VQFTKAAKQS	VLDGTSKWSA	KITITVVSAQ	GLQAKDKTGS	SDPYVTVQVG	KNKRRTKTIF
1270	1280	1290	1300	1310	1320
GNLNPVWDEK	FYFECHNSTD	RIKVRVWDED	DDIKSRVKQH	FKKESDDFLG	QTIVEVRTLS
1330	1340	1350	1360	1370	1380
GEMDVWYNLE	KRTDKSAVSG	AIRLKINVEI	KGEEKVAPYH	IQYTCLHENL	FHYLTEVKSN
1390	1400	1410	1420	1430	1440
GGVKIPEVKG	DEAWKVFFDD	ASQEIVDEFA	MRYGIESIYQ	AMTHFSCLSS	KYMCPGVPAV
1450	1460	1470	1480	1490	1500
MSTLLANINA	FYAHTTVSTN	IQVSASDRFA	ATNFGREKFI	KLLDQLHNSL	RIDLSKYREN
1510	1520	1530	1540	1550	1560
FPASNTERLQ	DLKSTVDLLT	SITFFRMKVL	ELQSPPKASM	VVKDCVRACL	DSTYKYIFDN
1570	1580	1590	1600	1610	1620
CHELYSQLTD	PSKKQDIPRE	DQGPTTKNLD	FWPQLITLMV	TIIDEDKTAY	TPVLNQFPQE
1630	1640	1650	1660	1670	1680
LNMGKISAEI	MWTLFALDMK	YALEEHENQR	LCKSTDYMNL	HFKVKWFYNE	YVRELPAFKD
1690	1700	1710	1720	1730	1740
AVPEYSLWFE	PFVMQWLDEN	EDVSMEFLHG	ALGRDKKDGF	QQTSEHALFS	CSVVDVFAQL
1750	1760	1770	1780	1790	1800
NQSFEIIKKL	ECPNPEALSH	LMRRFAKTIN	KVLLQYAAIV	SSDFSSHCDK	ENVPCILMNN
1810	1820	1830	1840	1850	1860
IQQLRVQLEK	MFESMGGKEL	DSEASTILKE	LQVKLSGVLD	ELSVTYGESF	QVIIEECIKQ
1870	1880	1890	1900	1910	1920
MSFELNQMRA	NGNTTSNKNS	AAMDAEIVLR	SLMDFLDKTL	SLSAKICEKT	VLKRVLKELW
1930	1940	1950	1960	1970	1980
KLVLNKIEKQ	IVLPPLTDQT	GPQMIFIAAK	DLGQLSKLKE	HMIREDARGL	TPRQCAIMEV
1990	2000	2010	2020	2030	2040
VLATIKQYFH	AGGNGLKKNF	LEKSPDLQSL	RYALSLYTQT	TDALIKKFID	TQTSQSRSSK
2050	2060	2070	2080	2090	2100
DAVGQISVHV	DITATPGTGD	HKVTVKVIAI	NDLNWQTTAM	FRPFVEVCIL	GPNLGDKKRK
2110	2120	2130	2140	2150	2160
QGTKTKSNTW	SPKYNETFQF	ILGKENRPGA	YELHLSVKDY	CFAREDRIIG	MTVIQLQNIA
2170	2180	2190	2200	2210
EKGSYGAWYP	LLKNISMDET	GLTILRILSQ	RTSDDVAKEF	VRLKSETRST	EESA

Descriptions

Annotation based on sequence homology with P27715

Autoinhibitory domains (AIDs)

Accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q8NB66

1994 variants for Q8NB66

No associated diseases with Q8NB66

7 regional properties for Q8NB66

Functions

9 GO annotations of cellular component

5 GO annotations of molecular function

9 GO annotations of biological process

9 homologous proteins in AiPD