AiPD: Autoinhibited Protein Database

Q9UPW8

Gene name	UNC13A (KIAA1032)
Protein name	Protein unc-13 homolog A
Names	Munc13-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23025
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)

554-603 (C1 domain) SS

Target domain	993-1512 (MUN domain)
Relief mechanism	Ligand binding
Assay

AID

554-603 (C1 domain)

Target domain

993-1512 (MUN domain)

Relief mechanism

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

Assay

659-787 (C2B domain) SS

Target domain	993-1512 (MUN domain)
Relief mechanism	Ligand binding
Assay

AID

659-787 (C2B domain)

Target domain

993-1512 (MUN domain)

Relief mechanism

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

Assay

788-992 (C2B-MUN linker region) SS

Target domain	993-1512 (MUN domain)
Relief mechanism	Ligand binding
Assay

AID

788-992 (C2B-MUN linker region)

Target domain

993-1512 (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 Q9UPW8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UPW8-F1	Predicted				AlphaFoldDB

1058 variants for Q9UPW8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002542205 rs199919434 RCV000927972 CA9298773	151	M>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001290299 RCV003128383 rs2076985517	814	P>L	Cerebellar ataxia [ClinVar]	Yes	ClinVar dbSNP
RCV001262306 rs2076957024	929	G>E	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
CA9297975 rs758916422 RCV001254988	1166	G>A	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA9298948 rs755331642	2	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1415013292 CA404747473	4	L>P		No	ClinGen gnomAD
rs74390081 CA306120475	9	K>Q		No	ClinGen Ensembl
CA404743183 rs1359419349	13	F>L		No	ClinGen TOPMed
TCGA novel	14	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139884068 CA9298931	14	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1182257012 CA404743169	15	G>S		No	ClinGen gnomAD
rs774843760 CA9298911	18	E>G		No	ClinGen ExAC gnomAD
TCGA novel CA404742657 rs763355689	20	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs775972806 CA9298908	22	T>M		No	ClinGen ExAC gnomAD
CA404742635 rs1162375275 COSM1733624	24	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA9298904 rs770575876	25	T>S		No	ClinGen ExAC gnomAD
rs746448573 CA9298903	27	K>E		No	ClinGen ExAC gnomAD
rs1222174771 CA404742592	30	N>K		No	ClinGen gnomAD
rs758413967 CA9298901	32	K>R		No	ClinGen ExAC gnomAD
CA9298900 rs370055932	34	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410106599 CA404742559	35	T>I		No	ClinGen gnomAD
rs377208330 CA306119973	36	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298897 rs750657765	36	I>T		No	ClinGen ExAC gnomAD
rs754721967 CA9298898	36	I>V		No	ClinGen ExAC gnomAD
rs762018926 CA9298895	37	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751696870 CA9298894	37	A>V		No	ClinGen ExAC TOPMed gnomAD
rs367737921 CA9298891	39	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs763555611 CA9298892	39	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	44	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404742507 rs1179329948 COSM4131429	44	S>R	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
CA404742485 rs1437025324	47	Q>R		No	ClinGen gnomAD
rs868554213 CA306118775	52	E>K		No	ClinGen Ensembl
TCGA novel	54	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1384490841 CA404742117	57	D>Y		No	ClinGen gnomAD
rs140141294 CA9298863	61	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9298861 rs755863482	64	V>L		No	ClinGen ExAC gnomAD
rs747275398 CA9298860	71	W>C		No	ClinGen ExAC gnomAD
TCGA novel	73	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777799611 CA9298859	73	T>R		No	ClinGen ExAC gnomAD
rs920402869 CA306118744	74	M>I		No	ClinGen TOPMed
CA404741915 rs1291632515	74	M>V		No	ClinGen gnomAD
rs758506189 CA9298858	75	V>M		No	ClinGen ExAC gnomAD
CA404741863 rs1599407858	78	V>G		No	ClinGen Ensembl
CA9298856 rs765390715	78	V>L		No	ClinGen ExAC gnomAD
rs868044492 CA306118733	81	P>L		No	ClinGen Ensembl
CA404741828 rs1253105477	82	L>M		No	ClinGen gnomAD
CA9298854 rs754361181	86	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766877496 CA9298853	86	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	87	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772924086 CA404741750 CA404741748	89	N>K		No	ClinGen ExAC TOPMed gnomAD
CA9298852 rs143929324	89	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	90	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404741737 rs1416751087	90	E>V		No	ClinGen gnomAD
CA404741627 rs1310327993	91	E>A		No	ClinGen TOPMed
CA9298823 rs770724738	92	G>S		No	ClinGen ExAC gnomAD
rs748344492 CA9298822	95	E>D		No	ClinGen ExAC TOPMed gnomAD
rs768866268 CA9298820	98	T>A		No	ClinGen ExAC gnomAD
rs749446166 CA9298819	98	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1445824701 CA404741571	100	D>E		No	ClinGen gnomAD
rs573142798 CA9298817	100	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573142798 CA306117103	100	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000412639 rs1057517677 CA16042247	102	Q>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA404741562 rs1057517677	102	Q>E		No	ClinGen TOPMed gnomAD
rs374470739 CA306117074	103	V>F		No	ClinGen ESP TOPMed gnomAD
CA404741552 rs1599403715	103	V>G		No	ClinGen Ensembl
CA404741555 rs374470739	103	V>L		No	ClinGen ESP TOPMed gnomAD
rs781439760 CA9298815	105	M>T		No	ClinGen ExAC gnomAD
CA306117053 rs889421095	106	A>V		No	ClinGen TOPMed
CA9298814 rs757591583	107	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9298813 rs554232319	108	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9298812 rs554232319	108	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1328935314 CA404741474	115	D>H		No	ClinGen TOPMed
CA9298810 rs752257706	118	F>C		No	ClinGen ExAC gnomAD
CA9298809 rs370077428	120	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298808 COSM4140386 rs759428864	120	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA404741437 rs759428864	120	R>L		No	ClinGen ExAC TOPMed gnomAD
rs973018799 CA306117017	122	L>F		No	ClinGen TOPMed
CA306117010 rs867148390	124	D>N		No	ClinGen Ensembl
rs939817904 COSM565408 CA306117005	125	T>M	lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA404741405 COSM1391527 rs1451260824	126	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1343787229 CA404741404	126	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	127	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773140142 CA9298804	130	P>L		No	ClinGen ExAC gnomAD
CA9298805 rs760484867	130	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9298802 rs749499123	131	L>S		No	ClinGen ExAC gnomAD
CA404741370 rs1307065114	132	D>H		No	ClinGen TOPMed
CA404741368 rs1307065114	132	D>N		No	ClinGen TOPMed
rs767390914 CA9298780	134	P>S		No	ClinGen ExAC gnomAD
CA306116082 rs1030895746	139	R>C		No	ClinGen TOPMed gnomAD
CA9298779 rs763300244	139	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1283503392 CA404741139	140	Y>*		No	ClinGen gnomAD
CA9298778 TCGA novel rs775731590	141	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA9298777 rs769774730	143	K>E		No	ClinGen ExAC gnomAD
CA306116040 rs1013955100	145	L>R		No	ClinGen Ensembl
rs745893132 CA404741062	146	E>G		No	ClinGen ExAC TOPMed gnomAD
rs745893132 CA9298776	146	E>V		No	ClinGen ExAC TOPMed gnomAD
CA9298775 rs368359678	147	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298774 rs771481875	151	M>L		No	ClinGen ExAC
CA306116020 rs778738179	152	R>G		No	ClinGen gnomAD
CA9298772 rs778147879	152	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA306116019 rs778738179	152	R>W		No	ClinGen gnomAD
rs867937580 CA306116011	153	D>A		No	ClinGen Ensembl
rs552052890 CA9298771 RCV000903351	153	D>Y		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs371214926 CA9298770	156	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs184356025 CA9298755	158	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773657272 CA9298752	160	Q>P		No	ClinGen ExAC gnomAD
CA9298751 rs370472434	162	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298750 rs748615592	163	Q>E		No	ClinGen ExAC gnomAD
rs748615592 CA404740708	163	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768407687 CA9298748	164	D>E		No	ClinGen ExAC gnomAD
rs546420246 CA9298749	164	D>N		No	ClinGen ExAC gnomAD
TCGA novel	166	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	167	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM182060 rs748861992 CA9298747	168	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9298745 rs755637752	169	V>F		No	ClinGen ExAC gnomAD
CA9298746 rs755637752	169	V>I		No	ClinGen ExAC gnomAD
rs1380734509 CA404740656	171	S>R		No	ClinGen gnomAD
CA404740648 rs781207705	172	N>K		No	ClinGen ExAC gnomAD
CA9298730 rs748993706	177	W>L		No	ClinGen ExAC gnomAD
CA404739906 rs1167919156	182	W>*		No	ClinGen gnomAD
rs1412991495 CA404739907	182	W>L		No	ClinGen gnomAD
rs779796445 CA9298729	183	G>S		No	ClinGen ExAC gnomAD
CA404739829 rs1192546836	186	H>Y		No	ClinGen gnomAD
rs774672931 CA9298713	187	N>I		No	ClinGen ExAC TOPMed gnomAD
CA404738429 rs774672931	187	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9298711 rs116427310	188	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1599388635 CA404738406	189	D>A		No	ClinGen Ensembl
CA9298710 rs775992197	189	D>E		No	ClinGen ExAC gnomAD
rs1280035405 CA404738399	190	P>S		No	ClinGen gnomAD
CA9298708 COSM992868 rs745492905	191	D>N	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs745492905 CA404738388	191	D>Y		No	ClinGen ExAC gnomAD
rs372364453 CA9298707	192	S>G		No	ClinGen ESP ExAC gnomAD
rs1469873236 CA404738366	193	A>V		No	ClinGen gnomAD
CA9298706 rs368784137	194	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1015135007 COSM1231748 CA404738326	197	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1015135007 CA306110904	197	R>G		No	ClinGen TOPMed gnomAD
rs1424961823 COSM1231744 CA404738324	197	R>H	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1290932312 CA404738286	201	Y>*		No	ClinGen gnomAD
rs1452815414 CA404738281	202	R>H		No	ClinGen TOPMed
rs1191427111 CA404738256	206	S>R		No	ClinGen TOPMed
CA9298703 rs758354290	207	N>H		No	ClinGen ExAC TOPMed gnomAD
CA9298701 rs201614698	208	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9298700 rs201614698	208	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	208	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	208	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170186106 CA404738233	209	I>F		No	ClinGen TOPMed
rs761900352 CA9298699	210	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752113718 CA9298696	211	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752113718 CA9298697	211	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1033044694 CA306110862	212	P>L		No	ClinGen Ensembl
rs367690310 CA9298693	213	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374485780 CA404738190	214	Y>N		No	ClinGen gnomAD
TCGA novel	215	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM438923 rs560413297 CA9298691	216	T>M	Variant assessed as Somatic; 0.0 impact. liver breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs746435577 CA9298688	221	A>T		No	ClinGen ExAC gnomAD
rs748050065 CA9298685	229	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1402835470 CA404738020	229	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1402835470 CA404738023	229	R>L		No	ClinGen gnomAD
CA9298684 rs778715910	230	P>L		No	ClinGen ExAC gnomAD
CA9298683 rs754719859	231	P>S		No	ClinGen ExAC TOPMed gnomAD
CA404737998 rs1245113064	232	P>S		No	ClinGen TOPMed gnomAD
COSM711198 CA9298682 rs139378806	234	G>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA9298681 rs781206165	235	S>F		No	ClinGen ExAC gnomAD
CA9298680 rs757495156	236	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370815364 CA306110832	239	Y>N		No	ClinGen ESP TOPMed
rs1272167523 CA404737919	240	S>R		No	ClinGen TOPMed
rs1351262866 CA404737914	240	S>T		No	ClinGen gnomAD
rs769045684 CA9298678	242	S>C		No	ClinGen ExAC TOPMed gnomAD
rs769045684 CA9298679	242	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1246679704 CA404737875	243	M>I		No	ClinGen gnomAD
CA9298677 rs759013861	243	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA306110824 rs1054283435	246	Y>H		No	ClinGen TOPMed
CA404737826 rs1394948350	247	E>D		No	ClinGen gnomAD
RCV000996822 rs200805380 CA9298675	247	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9298674 rs759918969	248	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	249	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404737787 rs1433292954	251	E>A		No	ClinGen TOPMed gnomAD
rs766007940 CA9298671	254	A>D		No	ClinGen ExAC gnomAD
rs776348503 CA9298672	254	A>T		No	ClinGen ExAC TOPMed gnomAD
CA306110049 rs938595034	258	T>A		No	ClinGen TOPMed gnomAD
CA404736846 rs1199825333	258	T>M		No	ClinGen TOPMed gnomAD
rs1237300972 CA404736820	260	S>T		No	ClinGen Ensembl
CA404736758 rs1265152037	262	R>C		No	ClinGen gnomAD
rs372511545 CA9298655	262	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA404736701 rs1480670512	264	A>T		No	ClinGen gnomAD
CA9298652 rs189816644	267	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868408189 CA306110039	268	E>D		No	ClinGen Ensembl
CA306110035 rs58435684	270	S>I		No	ClinGen Ensembl
rs58435684 CA306110037	270	S>N		No	ClinGen Ensembl
rs868810356 CA306110031	271	Q>K		No	ClinGen Ensembl
CA306110029 rs866742921	272	G>V		No	ClinGen Ensembl
CA404736412 rs1555782710	274	S>C		No	ClinGen Ensembl
CA404736368 CA404736367 rs1333240306	275	Q>H		No	ClinGen TOPMed gnomAD
rs920702573 CA306110028	277	S>C		No	ClinGen gnomAD
CA306110027 rs866174191	277	S>I		No	ClinGen gnomAD
RCV001255106 rs868832101 CA306110025	278	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
CA404736245 rs1399766071	281	D>H		No	ClinGen gnomAD
CA404736247 rs1399766071	281	D>N		No	ClinGen gnomAD
CA9298649 rs773849413	283	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	284	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571916697 CA9298647	285	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1252582291 CA404736167	286	S>G		No	ClinGen gnomAD
rs1176193050 CA404736165	286	S>N		No	ClinGen gnomAD
rs1273417743 CA404736156	287	L>P		No	ClinGen TOPMed
rs372812082 CA9298644	288	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs777993407 CA9298643	289	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9298640 rs779116109	291	D>N		No	ClinGen ExAC TOPMed gnomAD
CA306109995 rs904677625	292	M>V		No	ClinGen TOPMed gnomAD
rs755583610 CA9298639	293	E>D		No	ClinGen ExAC gnomAD
rs1376299828 CA404736032	293	E>V		No	ClinGen TOPMed gnomAD
CA404736013 rs1416436421	294	D>N		No	ClinGen gnomAD
CA404735979 rs1400353250	295	E>K		No	ClinGen TOPMed gnomAD
rs1400353250 CA404735975	295	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA306109987 rs1043222909	296	R>Q		No	ClinGen TOPMed gnomAD
rs1454147461 CA404735959	296	R>W		No	ClinGen gnomAD
rs780304420 CA404735867	298	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780304420 CA9298637	298	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9298638 rs201739401	298	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599385881 CA404735846	299	D>A		No	ClinGen Ensembl
CA404735788 rs1390426029	300	S>Y		No	ClinGen TOPMed
CA306109974 rs891523683	301	Y>H		No	ClinGen Ensembl
rs1599385857 CA404735739	301	Y>S		No	ClinGen Ensembl
CA9298636 rs756447242	302	H>P		No	ClinGen ExAC gnomAD
CA9298635 rs750051670	303	S>P		No	ClinGen ExAC TOPMed gnomAD
rs750051670 CA404735678	303	S>T		No	ClinGen ExAC TOPMed gnomAD
CA404735625 rs1200184786	305	H>R		No	ClinGen gnomAD
CA9298634 rs371580609	307	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1337858200 CA404735539	308	V>G		No	ClinGen TOPMed
CA9298632 rs576312325	310	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	310	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763560757 CA9298631	313	D>Y		No	ClinGen ExAC
CA9298630 rs367596815	314	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306109938 rs1021817670	316	R>C		No	ClinGen TOPMed gnomAD
rs975973158 CA306109937	316	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	322	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306109919 rs774319285	322	E>V		No	ClinGen TOPMed gnomAD
CA306109915 rs1044305291	323	E>A		No	ClinGen Ensembl
CA306109912 rs931161413	323	E>D		No	ClinGen Ensembl
rs759307750 CA9298627	323	E>K		No	ClinGen ExAC gnomAD
CA404735139 rs1258521951	324	L>M		No	ClinGen TOPMed
TCGA novel	329	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338163914 CA404734989	330	D>E		No	ClinGen gnomAD
CA9298625 rs772479054	334	E>A		No	ClinGen ExAC gnomAD
rs1471543693 CA404734905	334	E>K		No	ClinGen gnomAD
rs764050434 CA9298624	335	E>D		No	ClinGen ExAC TOPMed gnomAD
CA306109889 rs1019801226	335	E>G		No	ClinGen TOPMed gnomAD
rs1265865889 CA404734852	336	E>G		No	ClinGen gnomAD
rs886742960 CA306109875	337	L>M		No	ClinGen TOPMed
CA404734821 rs1160976831	339	E>K		No	ClinGen TOPMed
CA404734805 rs774605967	340	D>G		No	ClinGen ExAC gnomAD
CA9298623 rs774605967	340	D>V		No	ClinGen ExAC gnomAD
rs1293179785 CA404734798	341	E>K		No	ClinGen gnomAD
rs142257637 CA9298622	342	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1354395474 CA404734752	343	E>D		No	ClinGen gnomAD
CA404734780 rs1452795413	343	E>K		No	ClinGen TOPMed gnomAD
rs200561053 CA9298621	344	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404734730 rs1228517308	345	E>D		No	ClinGen gnomAD
CA404734739 rs1380680348	345	E>K		No	ClinGen TOPMed
CA306109865 rs898222224	347	E>D		No	ClinGen TOPMed
rs1044936603 CA306109862	349	E>V		No	ClinGen TOPMed
CA404734588 rs1568530602	351	V>E		No	ClinGen Ensembl
TCGA novel	353	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9298616 rs756578402	354	D>N	Variant assessed as Somatic; 0.0002435 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756578402 CA404734520	354	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA9298615 rs746305603	356	G>C		No	ClinGen ExAC
rs954702209 CA306109851	357	S>G		No	ClinGen Ensembl
CA306109850 rs199509317	357	S>N		No	ClinGen Ensembl
CA9298614 rs201556079	357	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056359417 CA306109847	358	Y>C		No	ClinGen TOPMed
CA9298613 rs34752754 VAR_061872	359	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404734400 rs1168119893	360	Q>K		No	ClinGen gnomAD
rs751169135 CA404734374	361	R>C		No	ClinGen ExAC gnomAD
rs763613199 CA9298611	361	R>H		No	ClinGen ExAC TOPMed gnomAD
CA404734363 rs763613199	361	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9298612 rs751169135	361	R>S		No	ClinGen ExAC gnomAD
rs757867520 CA9298610	363	D>H		No	ClinGen ExAC gnomAD
CA404734328 rs1180859679	363	D>V		No	ClinGen TOPMed
rs757867520 CA404734337	363	D>Y		No	ClinGen ExAC gnomAD
CA404734319 rs1435596902	364	V>I		No	ClinGen gnomAD
rs752581227 CA9298609	370	K>E		No	ClinGen ExAC TOPMed gnomAD
CA9298608 rs374249255	371	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298607 rs566299244	374	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766238009 CA9298605	374	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9298606 rs766238009	374	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774657330 CA9298603	375	I>V		No	ClinGen ExAC TOPMed gnomAD
CA404734062 rs1599385377	376	S>T		No	ClinGen Ensembl
CA404734043 rs1306852816	377	L>R		No	ClinGen TOPMed
rs768626972 CA9298602	378	P>L		No	ClinGen ExAC gnomAD
rs1235001315 CA404734001	380	A>D		No	ClinGen TOPMed
CA404733997 rs1555782585	381	A>P		No	ClinGen Ensembl
TCGA novel	381	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404733987 rs1276536814	381	A>V		No	ClinGen gnomAD
rs372256863 CA9298599	382	P>A		No	ClinGen ExAC gnomAD
TCGA novel	382	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372256863 CA306109824	382	P>T		No	ClinGen ExAC gnomAD
rs1466758646 CA404733967	383	G>E		No	ClinGen gnomAD
rs371153697 CA9298598	383	G>R		No	ClinGen ESP ExAC gnomAD
rs1466758646 CA404733962	383	G>V		No	ClinGen gnomAD
CA9298596 rs372619205	385	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218232649 CA404733929	386	D>E		No	ClinGen gnomAD
rs1426396911 CA404733938	386	D>N		No	ClinGen TOPMed gnomAD
rs777339982 CA9298593	387	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA306109779 rs759916821	389	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	389	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404733902 rs1457599592	389	P>S		No	ClinGen TOPMed
rs1256377658 CA404733883	391	A>T		No	ClinGen gnomAD
CA404733864 rs1198322150	393	T>N		No	ClinGen gnomAD
rs754976102 CA9298589	394	E>G		No	ClinGen ExAC gnomAD
CA9298590 rs529698632	394	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766291100 CA404733842	395	A>D		No	ClinGen ExAC gnomAD
rs1280088187 CA404733846	395	A>T		No	ClinGen gnomAD
CA9298587 rs766291100	395	A>V		No	ClinGen ExAC gnomAD
rs1374068649 CA404733839	396	P>A		No	ClinGen gnomAD
TCGA novel	397	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750243890 CA9298585	398	M>V		No	ClinGen ExAC gnomAD
CA306109767 rs905516174	399	A>V		No	ClinGen Ensembl
rs1178603407 CA404733809	400	K>M		No	ClinGen gnomAD
rs1466902803 CA404733807	400	K>N		No	ClinGen TOPMed
CA404733801 rs1599385140	401	V>G		No	ClinGen Ensembl
rs1413154832 CA404733804	401	V>L		No	ClinGen gnomAD
CA9298584 rs764438674	402	A>S		No	ClinGen ExAC gnomAD
rs1159839327 CA404733790	403	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	404	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404733781 rs1399357010	405	P>A		No	ClinGen TOPMed
CA404733775 rs1441612963	406	A>T		No	ClinGen gnomAD
CA9298582 rs775682528	406	A>V		No	ClinGen ExAC gnomAD
CA404733769 rs1441274062	407	T>A		No	ClinGen TOPMed
rs769719390 CA9298581	407	T>M		No	ClinGen ExAC TOPMed gnomAD
CA404733764 rs1568530375	408	P>S		No	ClinGen Ensembl
CA9298578 rs376610257	409	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298577 rs747440148	410	K>R		No	ClinGen ExAC gnomAD
rs1568530347 CA404733725	411	V>A		No	ClinGen Ensembl
CA9298576 rs777984449	411	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9298575 rs529960065	413	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317706254 CA404733680	415	E>K		No	ClinGen TOPMed
CA9298573 rs778508640	416	Q>H		No	ClinGen ExAC gnomAD
rs754389244 CA9298572	418	P>T		No	ClinGen ExAC gnomAD
CA9298571 rs753831000	420	A>S		No	ClinGen ExAC gnomAD
CA404733607 rs1246069694	420	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1300743606 CA404733587	421	E>D		No	ClinGen gnomAD
CA404733605 rs1377886310	421	E>K		No	ClinGen gnomAD
CA404733603 rs1377886310	421	E>Q		No	ClinGen gnomAD
rs1036875791 CA306109749	422	P>L		No	ClinGen gnomAD
CA9298570 rs780211296	422	P>S		No	ClinGen ExAC gnomAD
rs1299327913 CA404733572	423	P>S		No	ClinGen gnomAD
CA9298569 rs756111373	425	D>E		No	ClinGen ExAC TOPMed gnomAD
rs564614471 COSM1197515 CA9298568	426	E>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA404733531 rs564614471	426	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306109731 rs867772466	428	S>N		No	ClinGen Ensembl
CA9298547 rs554093295	431	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554093295 CA404733385	431	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554093295 CA404733384	431	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404733386 rs1210403486	431	P>S		No	ClinGen gnomAD
TCGA novel	432	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318118345 CA404733358	435	E>K		No	ClinGen gnomAD
rs755180633 CA9298544	436	E>D		No	ClinGen ExAC TOPMed gnomAD
rs995222403 CA306109515	437	G>S		No	ClinGen gnomAD
CA404733324 rs1295493894	438	Q>E		No	ClinGen TOPMed gnomAD
TCGA novel	440	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753966640 CA9298543	440	G>R		No	ClinGen ExAC gnomAD
CA404733286 rs1370380961	441	Q>K		No	ClinGen gnomAD
rs541479549 CA306109507	442	D>E		No	ClinGen 1000Genomes
CA404733270 rs1461018784	442	D>N		No	ClinGen gnomAD
rs1490213991 CA404733247	443	S>A		No	ClinGen TOPMed
CA9298541 rs761195107	444	M>I		No	ClinGen ExAC gnomAD
rs966500532 CA306109502	444	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	447	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	447	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM992858 rs367702602 CA9298539	449	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1022121535 CA306109490	450	N>D		No	ClinGen TOPMed
CA404733111 rs1199318266	450	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA306109486 rs1015539766	453	R>C		No	ClinGen gnomAD
rs1015539766 CA306109487	453	R>G		No	ClinGen gnomAD
rs572470146 CA9298537	453	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404733071 rs1015539766	453	R>S		No	ClinGen gnomAD
CA9298535 rs748919854	454	A>G		No	ClinGen ExAC TOPMed gnomAD
CA404733044 rs748919854	454	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1555782432 CA404733013	456	N>D		No	ClinGen Ensembl
CA404732960 rs1316432782	458	V>A		No	ClinGen gnomAD
TCGA novel	459	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306109453 rs368052841	459	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9298531 rs368052841	459	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757211083 CA9298530	460	M>I		No	ClinGen ExAC gnomAD
CA404732924 rs1314417500	460	M>R		No	ClinGen gnomAD
CA306109445 rs868455440	461	Q>K		No	ClinGen Ensembl
rs1440238267 CA404732882	462	L>M		No	ClinGen gnomAD
CA404732834 rs1299540875	464	E>V		No	ClinGen TOPMed
CA404731294 rs1420168682	465	A>S		No	ClinGen gnomAD
rs936645743 CA306108243	465	A>V		No	ClinGen Ensembl
rs1382100826 CA404731285	466	R>G		No	ClinGen TOPMed gnomAD
rs769430666 CA404731279	466	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769430666 CA9298513	466	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1382100826 CA404731282	466	R>W		No	ClinGen TOPMed gnomAD
CA404731225 rs1357397448	469	G>E		No	ClinGen TOPMed
CA9298509 TCGA novel rs745432823	471	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1568528160 CA404731185	471	M>T		No	ClinGen Ensembl
rs776187656 CA9298508	474	S>F		No	ClinGen ExAC gnomAD
CA9298507 rs746931509	475	L>V		No	ClinGen ExAC TOPMed gnomAD
CA404731021 rs1488878422	477	F>L		No	ClinGen gnomAD
rs1288806385	479	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1350095202 CA404730937	480	G>D		No	ClinGen gnomAD
rs199618402 CA9298504	480	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1216414972 CA404730018	481	P>A		No	ClinGen gnomAD
CA404730014 rs1403132574	481	P>L		No	ClinGen gnomAD
rs1178039193 CA404729992 COSM270512	483	G>D	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1466460455 CA404729979	484	G>D		No	ClinGen gnomAD
rs373263160 COSM3772545 CA9298482	484	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs566947609 CA9298481	488	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA404729930 rs1377403332	489	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	491	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1475341054 CA404729894	491	M>L		No	ClinGen gnomAD
CA9298479 rs201058657	495	R>C	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9298477 rs753157485	495	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9298478 rs753157485	495	R>L		No	ClinGen ExAC TOPMed gnomAD
CA404729773 rs1464659541	499	P>L		No	ClinGen TOPMed
CA404729703 rs1213784317	505	D>N		No	ClinGen gnomAD
TCGA novel	509	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773455290 CA9298441	511	V>I		No	ClinGen ExAC gnomAD
rs1355333897 CA404729478	513	S>A		No	ClinGen TOPMed gnomAD
rs1232254641 CA404729473	513	S>F		No	ClinGen TOPMed gnomAD
CA9298438 rs779542572	516	A>V	Variant assessed as Somatic; 5.126e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	517	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1046280310 CA306104335	518	I>T		No	ClinGen Ensembl
rs1055193273 CA306104317	520	S>L		No	ClinGen TOPMed gnomAD
rs1185482459 CA404728689 COSM711202	525	S>G	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9298432 rs756693471	530	E>D		No	ClinGen ExAC gnomAD
rs750030753 CA9298433	530	E>G		No	ClinGen ExAC gnomAD
rs868745719 CA306104310	530	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9298414 rs756886896	533	K>E		No	ClinGen ExAC gnomAD
rs751126389 CA9298413	534	N>K		No	ClinGen ExAC TOPMed gnomAD
CA404728258 rs1599376263	534	N>T		No	ClinGen Ensembl
rs1599376248 CA404728106	540	T>P		No	ClinGen Ensembl
rs374140474 CA9298412	543	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs758389339 CA9298411	544	L>V		No	ClinGen ExAC gnomAD
TCGA novel	552	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM711204 rs1239657095 CA404727367	563	T>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1236939062 CA404727333	565	T>I		No	ClinGen gnomAD
CA404727168 rs774523027	571	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9298404 rs774523027	571	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	578	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	585	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781510502 CA9298398	588	G>S		No	ClinGen ExAC gnomAD
TCGA novel	592	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9298396 rs746599185	598	L>V		No	ClinGen ExAC gnomAD
rs1266304727 CA404726380	607	A>S		No	ClinGen gnomAD
CA9298374 rs772671109	608	A>V		No	ClinGen ExAC gnomAD
CA404726328 rs1332486888	609	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9298373 rs771750775	612	S>C		No	ClinGen ExAC gnomAD
rs1299166414 CA404726134	615	G>W		No	ClinGen gnomAD
CA9298372 rs747717334	617	E>D		No	ClinGen ExAC gnomAD
rs1315547523 CA404726046	619	R>W		No	ClinGen gnomAD
TCGA novel	621	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs971788521 CA306103409	625	M>I		No	ClinGen Ensembl
rs1386643675 CA404725783	625	M>T		No	ClinGen TOPMed
TCGA novel	625	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162689279 CA404725645	629	D>E		No	ClinGen TOPMed
CA9298369 rs749189952	630	R>C		No	ClinGen ExAC gnomAD
rs1379002032 CA404725454	636	R>C		No	ClinGen gnomAD
CA306103401 rs191081718	636	R>L		No	ClinGen 1000Genomes
CA404725366 rs1361144251	640	E>K		No	ClinGen TOPMed
CA9298367 rs755800742	646	Q>R		No	ClinGen ExAC gnomAD
COSM711206 rs1368546847 CA404725171	647	E>D	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs991719758 CA306103386	650	A>S		No	ClinGen TOPMed gnomAD
CA306103388 rs991719758	650	A>T		No	ClinGen TOPMed gnomAD
CA9298366 rs750232302	650	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752809538 CA9298363	654	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758620888 CA9298364	654	T>P		No	ClinGen ExAC gnomAD
rs1341338100 CA404724992	655	A>S		No	ClinGen gnomAD
rs1268381152 CA404724975	655	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766769666 CA9298359 COSM1391517	657	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1263455879 CA404724903	659	Q>L		No	ClinGen gnomAD
rs1438192335 CA404724889	660	M>L		No	ClinGen gnomAD
rs761012220 CA9298358	662	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1410922101 CA404724824	663	V>I		No	ClinGen TOPMed gnomAD
CA404724734 rs1422244326	666	S>G		No	ClinGen gnomAD
rs866772028 CA306103322	670	G>D		No	ClinGen Ensembl
rs1395699686 CA404724631	671	T>K		No	ClinGen gnomAD
rs1195591545 CA404724605	672	S>C		No	ClinGen gnomAD
CA404724531 rs1252644218	675	S>F		No	ClinGen gnomAD
rs1439390025 CA404724351	679	S>N		No	ClinGen gnomAD
rs866663937 CA306103295	682	V>L		No	ClinGen gnomAD
rs866663937 CA404724271	682	V>M		No	ClinGen gnomAD
rs769655510 CA9298332	683	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	686	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306102047 rs865905801	687	G>D		No	ClinGen Ensembl
rs1279158626 CA404723340	689	Q>E		No	ClinGen gnomAD
CA306102018 rs890032583	700	Y>C		No	ClinGen Ensembl
TCGA novel	702	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228142915 CA404723140	703	V>I		No	ClinGen TOPMed gnomAD
CA306101991 rs543896701	709	K>R		No	ClinGen TOPMed
TCGA novel	709	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404723036 rs1413400554	711	R>Q		No	ClinGen gnomAD
CA9298324 rs780143046	716	Y>D		No	ClinGen ExAC gnomAD
CA9298323 rs756602894	720	N>S		No	ClinGen ExAC gnomAD
rs1419675027 CA404722880	723	W>*		No	ClinGen gnomAD
CA404722783 rs1474813127	728	H>P		No	ClinGen gnomAD
CA404722397 rs1331927194	736	D>E		No	ClinGen TOPMed
rs1373427619 CA404722262	741	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1373427619 CA404722278	741	R>L		No	ClinGen TOPMed gnomAD
rs752332782 CA9298296	742	V>I		No	ClinGen ExAC TOPMed gnomAD
CA306101763 rs868424712	745	E>K		No	ClinGen Ensembl
CA306101758 rs866806986	746	D>N		No	ClinGen Ensembl
CA306101747 rs866379069	751	S>T		No	ClinGen Ensembl
CA404721837 rs1276991825	752	R>C		No	ClinGen TOPMed
rs1369895005 CA404721821	752	R>H		No	ClinGen gnomAD
rs1436099764 CA404721808	753	V>M		No	ClinGen gnomAD
rs1419306889 CA404721618	759	R>K		No	ClinGen gnomAD
CA306101729 rs267605352	760	E>K		No	ClinGen Ensembl
rs1179344710 CA404721499	763	D>N		No	ClinGen gnomAD
CA9298288 rs771796801	766	G>E		No	ClinGen ExAC gnomAD
rs749478006 CA9298287	768	T>M		No	ClinGen ExAC TOPMed gnomAD
CA404721297 rs1278451765	769	I>V		No	ClinGen gnomAD
CA404721158 rs1599371426	773	R>Q		No	ClinGen Ensembl
CA9298285 rs769897194	774	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	775	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9298282 rs757874875	777	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	777	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	780	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758719279 CA9298279	781	V>M		No	ClinGen ExAC gnomAD
CA404720969 rs1453953740	782	W>C		No	ClinGen gnomAD
rs1365217749 CA404720949	784	N>H		No	ClinGen TOPMed gnomAD
CA306099818 rs866672978	787	K>N		No	ClinGen Ensembl
rs1271616666 CA404719650	788	R>Q		No	ClinGen TOPMed
TCGA novel	789	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	790	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9298266 rs746041238	791	K>R		No	ClinGen ExAC gnomAD
TCGA novel	792	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306099811 rs1005295056	793	A>V		No	ClinGen TOPMed gnomAD
CA404719362 COSM182049 rs1234944404	794	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA404719313 rs1336662157 COSM1325408	795	S>L	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9298261 rs758815795	801	H>Y		No	ClinGen ExAC gnomAD
rs748593176 CA9298260	802	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1292825072 CA404719070	803	S>G		No	ClinGen gnomAD
rs371570453 CA306099777	809	E>K		No	ClinGen ESP
CA306099776 rs753298349	812	V>A		No	ClinGen Ensembl
TCGA novel	813	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306099766 rs928279260	816	H>N		No	ClinGen Ensembl
rs373333847 CA404717129	825	N>K		No	ClinGen ESP ExAC gnomAD
CA306098697 rs998217670	828	H>Q		No	ClinGen TOPMed
rs760950869 CA9298229 COSM1391513	830	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA404716944 rs771997318	832	D>E		No	ClinGen ExAC gnomAD
rs773374321 CA9298228	832	D>N		No	ClinGen ExAC gnomAD
rs779581085 CA306098665	833	V>L		No	ClinGen TOPMed gnomAD
COSM165401 CA404716904 rs779581085	833	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA9298226 rs201862997	836	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298222 rs780362699	839	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1441456635 CA404716562 COSM3692500	842	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1284584285 CA404716490	843	D>G		No	ClinGen gnomAD
rs1286850129 CA404716186	849	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	850	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306098603 rs758053071	855	D>E		No	ClinGen Ensembl
COSM286303 CA9298217 rs746528494	855	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA404715846 rs746528494	855	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	857	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs535280936 CA9298216	857	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA306098600 rs758390442	860	E>K		No	ClinGen ExAC TOPMed gnomAD
rs758390442 CA9298215	860	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs752581143 CA9298214	862	V>A		No	ClinGen ExAC gnomAD
CA404715593 rs1409419465	863	D>N		No	ClinGen gnomAD
CA9298211 rs750553320	867	M>V		No	ClinGen ExAC gnomAD
TCGA novel	868	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767775444 CA9298210	870	G>S		No	ClinGen ExAC gnomAD
CA306098569 rs971558673	871	V>I		No	ClinGen TOPMed
COSM3735173 CA404715289 rs1463276970	872	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA404715241 rs1599366098	873	S>P		No	ClinGen Ensembl
rs764623676 CA9298207	874	I>V		No	ClinGen ExAC gnomAD
rs1599366080 CA404715178	875	Y>S		No	ClinGen Ensembl
rs775851753 CA9298205	876	Q>K		No	ClinGen ExAC gnomAD
rs745543354 CA9298203	879	T>I		No	ClinGen ExAC TOPMed gnomAD
CA404714003 rs1441365300	884	L>F		No	ClinGen gnomAD
CA9298188 rs763460662	889	M>I		No	ClinGen ExAC gnomAD
CA306097935 rs983878933	890	C>S		No	ClinGen gnomAD
CA404713715 rs1427317730	891	P>L		No	ClinGen gnomAD
CA404713727 rs1171859841	891	P>S		No	ClinGen TOPMed gnomAD
rs775904978 CA9298187	893	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	895	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269854450 CA404713616	896	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA404713489 rs1347575154	899	T>N		No	ClinGen TOPMed
rs1234019960 CA404713367	904	I>V		No	ClinGen gnomAD
rs1340218388 CA404713283	906	A>G		No	ClinGen gnomAD
rs1207370483 CA404713305	906	A>S		No	ClinGen gnomAD
CA404713269 rs1274023272	907	Y>H		No	ClinGen gnomAD
CA306097913 rs867435576	909	A>S		No	ClinGen gnomAD
CA404713214 rs867435576	909	A>T		No	ClinGen gnomAD
CA306097912 rs907813492	911	T>I		No	ClinGen TOPMed gnomAD
rs907813492 CA404713157	911	T>N		No	ClinGen TOPMed gnomAD
CA404713144 rs867041247	912	T>A		No	ClinGen TOPMed gnomAD
CA306097907 rs867041247	912	T>P		No	ClinGen TOPMed gnomAD
rs1309839123 CA404713102	913	A>S		No	ClinGen gnomAD
TCGA novel	913	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	918	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379197759 CA404713011	919	A>V		No	ClinGen TOPMed
CA9298180 rs367989391	921	D>N		No	ClinGen ESP ExAC gnomAD
rs980823957 CA306097892	922	R>C		No	ClinGen TOPMed gnomAD
rs1174371793 CA404712955	922	R>H		No	ClinGen TOPMed gnomAD
rs201156080 CA9298178	924	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404712935 rs201156080	924	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306097884 rs1000273719	928	F>L		No	ClinGen TOPMed
rs1032104401 CA306097885	928	F>Y		No	ClinGen Ensembl
CA9298170 rs752764254	930	K>R		No	ClinGen ExAC gnomAD
rs1293894481 CA404712770	934	V>M		No	ClinGen gnomAD
rs1206097628 CA404712650	945	R>Q		No	ClinGen TOPMed
rs370917336 CA9298167	945	R>W		No	ClinGen ESP ExAC TOPMed
rs766718729 CA306097511	947	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1456017003 CA404712618	950	M>R		No	ClinGen gnomAD
CA404712619 rs1456017003	950	M>T		No	ClinGen gnomAD
CA404712623 rs1322928566	950	M>V		No	ClinGen TOPMed gnomAD
CA306097474 rs776564896	952	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1271863716 CA404712578	954	N>S		No	ClinGen gnomAD
CA404712579 rs1271863716	954	N>T		No	ClinGen gnomAD
rs1599363198 CA404712571	955	F>S		No	ClinGen Ensembl
rs767317391 CA9298146	960	P>L		No	ClinGen ExAC TOPMed gnomAD
CA404712536 rs1227136255	960	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	961	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293233784 CA404712454	972	L>F		No	ClinGen TOPMed
CA9298142 rs762802236	977	T>P		No	ClinGen ExAC gnomAD
rs1363283903 CA404712401	980	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs759431414 CA404712308	985	E>D		No	ClinGen ExAC gnomAD
rs1599362829 CA404712292	986	L>P		No	ClinGen Ensembl
rs776436270 CA9298120	988	S>N		No	ClinGen ExAC gnomAD
CA9298119 rs770656051	989	P>L		No	ClinGen ExAC TOPMed
rs1473509124 CA404712203	991	R>Q		No	ClinGen gnomAD
CA404712050 rs1180810540	996	V>A		No	ClinGen gnomAD
CA404711867 rs1238708579	1001	K>R		No	ClinGen gnomAD
rs768749250 CA9298116	1005	N>S		No	ClinGen ExAC gnomAD
CA404711724 rs1599362762	1007	T>P		No	ClinGen Ensembl
rs779956937 CA9298114	1009	E>Q		No	ClinGen ExAC gnomAD
rs75749068 CA306097082	1012	F>L		No	ClinGen TOPMed
CA404711591 rs1287065237	1012	F>Y		No	ClinGen gnomAD
rs756708503 CA9298113	1013	N>S		No	ClinGen ExAC gnomAD
rs1286038817 CA404711442	1016	H>Q		No	ClinGen gnomAD
CA404711428 rs1599362681	1017	E>*		No	ClinGen Ensembl
CA306097081 rs369878432	1020	S>G		No	ClinGen ESP
rs1340127999 CA404711286	1020	S>R		No	ClinGen gnomAD
rs781691500 CA9298111	1021	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA404711283 rs1338203040	1021	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9298110 rs200328448	1027	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768953319 CA9298096	1028	A>G		No	ClinGen ExAC TOPMed gnomAD
CA404709697 rs1365393816	1028	A>S		No	ClinGen TOPMed
rs768953319 CA404709688 COSM264552	1028	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs763034495 CA9298095	1029	K>T		No	ClinGen ExAC gnomAD
CA9298094 rs775651900	1030	K>N		No	ClinGen ExAC TOPMed gnomAD
rs745936227 CA9298093 CA9298092	1031	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs781778071 CA9298090 CA306095860	1032	E>D		No	ClinGen ExAC gnomAD
COSM565426 CA404709587 rs1186328118	1032	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1568516544 CA404709557	1032	E>V		No	ClinGen Ensembl
rs1219447662 CA404709544	1033	V>D		No	ClinGen TOPMed gnomAD
rs1249017277 CA404709553	1033	V>I		No	ClinGen gnomAD
CA404709532 rs4239634	1034	L>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9298088 rs4239634	1034	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs571398289 CA9298089	1034	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758094587 CA9298086	1036	E>K		No	ClinGen ExAC gnomAD
CA9298083 rs754552161	1041	S>N		No	ClinGen ExAC gnomAD
TCGA novel CA404709301 rs1291786921	1043	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
TCGA novel	1046	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9298081 rs372372696	1046	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372372696 CA9298080	1046	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427374495 COSM1391507 CA404709214	1048	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs750254814 CA9298079	1049	S>A		No	ClinGen ExAC gnomAD
CA404709107 rs1434176418	1055	I>L		No	ClinGen gnomAD
rs1568516451 CA404709087	1056	V>L		No	ClinGen Ensembl
CA9298074 rs368571508	1060	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389004943 CA404708918	1064	N>S		No	ClinGen TOPMed
rs1599359334 CA404708876	1067	T>P		No	ClinGen Ensembl
CA404708853 rs1207434694	1068	P>S		No	ClinGen gnomAD
rs1452273798 CA404707573	1074	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1161923903 CA404707579	1074	P>S		No	ClinGen gnomAD
TCGA novel	1075	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404707499 rs1188365868	1078	N>S		No	ClinGen gnomAD
rs542368707 CA404707438	1082	I>F		No	ClinGen 1000Genomes gnomAD
CA306093130 rs542368707	1082	I>L		No	ClinGen 1000Genomes gnomAD
rs370935859 CA9298049	1084	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA404707253 rs1168947437 CA404707254	1088	W>C		No	ClinGen TOPMed gnomAD
rs748879833 CA9298048	1092	A>S		No	ClinGen ExAC gnomAD
rs1331850430 CA404707137	1093	Q>E		No	ClinGen TOPMed
TCGA novel	1097	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9298045 rs372657345	1098	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372657345 CA9298044	1098	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1098	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs961502508 CA306093118	1100	E>G		No	ClinGen Ensembl
rs1599355929 CA404706658	1103	D>A		No	ClinGen Ensembl
rs756330712 CA9298016	1103	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA404706611 rs1333426406	1105	H>Y		No	ClinGen gnomAD
COSM1391505 CA9298015 rs568021947	1106	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1109	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374805235 CA9298013	1112	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9298012 rs752126757	1114	M>L		No	ClinGen ExAC gnomAD
CA404706312 rs1599355866	1116	L>F		No	ClinGen Ensembl
rs1165924085 CA404706216	1119	K>R		No	ClinGen gnomAD
TCGA novel	1123	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306092982 rs961533216	1124	Y>D		No	ClinGen gnomAD
CA404706025 rs1377991292	1125	N>D		No	ClinGen gnomAD
CA306092980 rs1019734001	1125	N>S		No	ClinGen gnomAD
rs953780016 CA306092973	1129	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA306092970 rs915847912	1132	P>A		No	ClinGen TOPMed
CA9298007 rs75595663	1133	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75595663 COSM182045 CA306092963	1133	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9298006 rs778740565 COSM3672778	1137	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1158416 rs770502091 CA9298005	1137	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777915512 CA9298003	1138	V>M		No	ClinGen ExAC
TCGA novel	1139	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1139	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1141	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772113003 CA9298002	1142	P>S		No	ClinGen ExAC gnomAD
rs368269623 CA9298001 COSM286301	1143	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1159730918 CA404704232 CA404704231	1146	E>D		No	ClinGen gnomAD
rs772169921 CA9297984	1149	V>I		No	ClinGen ExAC TOPMed gnomAD
CA404704106 rs1599352101	1151	Q>*		No	ClinGen Ensembl
CA9297983 rs748071744	1151	Q>R		No	ClinGen ExAC gnomAD
CA9297980 rs749023276	1154	D>E		No	ClinGen ExAC TOPMed gnomAD
rs768560945 CA9297981	1154	D>G		No	ClinGen ExAC gnomAD
CA9297982 rs370800141	1154	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA404703868 rs1599352061	1159	V>G		No	ClinGen Ensembl
rs1242931512 CA404703882	1159	V>M		No	ClinGen gnomAD
CA306091606 rs867733161	1160	S>F		No	ClinGen Ensembl
rs781441199 CA404703824	1161	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781441199 CA9297979	1161	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA306091592 rs866735606	1161	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751666147 CA9297977	1164	L>P		No	ClinGen ExAC gnomAD
CA404703432 rs1381699671	1170	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755433647 CA9297972	1170	R>Q		No	ClinGen ExAC gnomAD
CA306091283 rs866657340	1176	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs866649303 CA306091277	1177	Q>H		No	ClinGen Ensembl
rs866487463 CA306091280	1177	Q>K		No	ClinGen Ensembl
CA306091271 rs866203678	1180	S>*		No	ClinGen Ensembl
CA404702283 rs1169614156	1181	E>Q		No	ClinGen gnomAD
rs867683883 CA306091263	1183	A>V		No	ClinGen Ensembl
rs867177088 CA306091261	1184	L>P		No	ClinGen Ensembl
TCGA novel	1191	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386189598 CA404701924	1192	V>I		No	ClinGen TOPMed
rs1490243778 CA404701846	1193	F>L		No	ClinGen gnomAD
rs868304817 CA306091239	1194	S>F		No	ClinGen Ensembl
CA9297952 rs754287445	1195	Q>K		No	ClinGen ExAC
rs1206892104 CA404701773	1196	L>I		No	ClinGen gnomAD
TCGA novel	1199	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404701595 rs766801262	1200	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1201	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM215761 rs1055405161 CA306091229	1207	E>K	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9297948 rs372462073	1210	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA306091225 rs547586209	1211	P>A		No	ClinGen 1000Genomes TOPMed
rs369333784 CA9297947	1214	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA404701009 rs1432146115	1216	H>R		No	ClinGen gnomAD
CA404700969 rs1480111690	1218	M>V		No	ClinGen gnomAD
COSM3098495 CA9297945 rs764119582	1220	R>C	ovary Variant assessed as Somatic; 5.919e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA306091221 rs950847565	1220	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA404700893 rs950847565	1220	R>L		No	ClinGen Ensembl
TCGA novel	1223	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9297937 rs778818728	1227	N>S		No	ClinGen ExAC gnomAD
CA9297935 rs749757450	1230	L>R		No	ClinGen ExAC gnomAD
rs1241057766 CA404700009	1232	Y>H		No	ClinGen gnomAD
CA9297933 rs756603896	1233	A>T		No	ClinGen ExAC gnomAD
rs750794059 CA9297932	1234	D>N		No	ClinGen ExAC gnomAD
rs780938224 CA9297931	1236	I>T		No	ClinGen ExAC TOPMed gnomAD
rs756815240 CA9297930	1238	K>E		No	ClinGen ExAC gnomAD
rs1385374269 COSM1480764 CA404699601	1241	A>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1385374269 CA404699589	1241	A>T		No	ClinGen gnomAD
CA9297929 rs564163574	1242	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404699545 rs564163574	1242	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386369522 CA404699527	1243	Y>H		No	ClinGen gnomAD
CA404699453 rs1387333620	1245	S>A		No	ClinGen TOPMed
rs934648696 CA306090884	1245	S>F		No	ClinGen TOPMed
CA306090860 rs993742493	1249	E>V		No	ClinGen TOPMed gnomAD
CA404699282 rs1363309552	1250	K>E		No	ClinGen gnomAD
CA404699248 rs1164390996	1250	K>N		No	ClinGen gnomAD
rs866470771 CA306090859	1250	K>T		No	ClinGen Ensembl
CA9297927 rs375434111	1251	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA404698330 rs1426752560	1252	P>S		No	ClinGen gnomAD
rs1376088476 CA404698314	1253	C>Y		No	ClinGen TOPMed
TCGA novel	1254	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749364153 CA9297916	1255	L>I		No	ClinGen ExAC gnomAD
rs749364153 CA9297915	1255	L>V		No	ClinGen ExAC gnomAD
rs1475657864 CA404698279	1256	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9297914 rs780755195	1260	Q>*		No	ClinGen ExAC gnomAD
rs1224130500 CA404698190	1263	R>Q		No	ClinGen gnomAD
rs1290660519 CA404698187	1264	V>I		No	ClinGen gnomAD
TCGA novel	1265	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1268	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1269	M>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348179239 CA404698133	1269	M>I		No	ClinGen TOPMed
rs1001675833 CA306090029	1271	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs751102730 CA9297909	1274	G>V		No	ClinGen ExAC
rs1277971117 CA404698082	1277	E>K		No	ClinGen TOPMed
TCGA novel	1279	D>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404698049 rs1400974946	1280	A>T		No	ClinGen TOPMed
rs868358034 CA306089897	1282	A>S		No	ClinGen Ensembl
rs370215725 CA9297891	1283	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA404697958 rs1178432956	1286	L>M		No	ClinGen gnomAD
TCGA novel	1288	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306089883 rs868009463	1290	Q>L		No	ClinGen Ensembl
CA306089882 rs868009463	1290	Q>R		No	ClinGen Ensembl
rs765072720 CA9297890	1294	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9297888 rs758019281	1296	V>A		No	ClinGen ExAC TOPMed gnomAD
CA404697764 rs1470946695	1296	V>I		No	ClinGen gnomAD
rs867028329 CA306089843	1299	E>*		No	ClinGen Ensembl
CA404697664 rs1459524987	1301	S>G		No	ClinGen gnomAD
CA9297885 rs570450091	1302	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs375575806 CA306089802	1302	R>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
TCGA novel	1304	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773587026 CA9297872	1309	Q>H		No	ClinGen ExAC gnomAD
CA306089394 rs1020794184	1309	Q>R		No	ClinGen Ensembl
CA306089382 rs1009369572	1310	P>L		No	ClinGen TOPMed gnomAD
rs369266503 CA9297869	1311	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1243574286 CA404697340	1311	H>Y		No	ClinGen gnomAD
rs1035756576 CA306089368	1312	I>V		No	ClinGen Ensembl
rs748807557 CA9297867	1313	E>D		No	ClinGen ExAC gnomAD
CA306089363 rs890190786	1314	E>V		No	ClinGen TOPMed gnomAD
CA306089355 rs868031953	1317	K>R		No	ClinGen Ensembl
rs1337875113 CA404697064	1320	G>D		No	ClinGen TOPMed gnomAD
CA9297865 rs779893416	1321	D>E		No	ClinGen ExAC gnomAD
rs201487315 CA9297864	1324	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1443086904 CA404696888	1327	K>R		No	ClinGen gnomAD
rs533316274 CA306089322	1328	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1187561020 CA404696851	1328	G>V		No	ClinGen gnomAD
CA9297863 rs750204115	1330	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1459139798 CA404696788	1331	N>S		No	ClinGen TOPMed
CA306089312 rs564722826	1332	V>M		No	ClinGen Ensembl
CA404696713 rs1490572375	1335	S>I		No	ClinGen gnomAD
CA404696673 rs1220544210	1336	A>V		No	ClinGen gnomAD
rs1320830799 CA404696639	1337	C>Y		No	ClinGen gnomAD
rs551281767 CA9297860	1340	V>M		No	ClinGen ExAC gnomAD
CA9297858 rs759586125	1344	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1405098055 CA404696457	1344	A>V		No	ClinGen gnomAD
TCGA novel	1345	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867177576 CA306089290	1345	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1300833529 CA404696405	1345	D>V		No	ClinGen gnomAD
rs766827544 CA9297856	1346	N>H		No	ClinGen ExAC gnomAD
CA9297855 rs532443826	1346	N>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1350	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1352	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404696195 rs1170054823	1354	L>M		No	ClinGen gnomAD
CA9297853 rs772360534	1357	S>T		No	ClinGen ExAC
TCGA novel	1359	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1363	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1364	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404694872 rs1568508127	1366	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA404694810 rs1344915546	1369	T>A		No	ClinGen gnomAD
CA404694788 rs1293761075	1369	T>S		No	ClinGen TOPMed
CA306088585 rs867920004	1373	R>*		No	ClinGen Ensembl
rs1375084968 CA404694641	1373	R>Q		No	ClinGen gnomAD
TCGA novel	1379	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404694310 rs1286675706	1383	M>L		No	ClinGen TOPMed
CA404694210 rs1568508069	1386	M>V		No	ClinGen Ensembl
rs1345869765 CA404694090	1388	K>R		No	ClinGen gnomAD
rs1568508061 CA404694048	1389	T>I		No	ClinGen Ensembl
rs746832816 CA9297822	1390	I>V		No	ClinGen ExAC gnomAD
CA9297821 rs777663703	1391	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755169156 CA9297820	1393	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755169156 CA306088581	1393	P>Q		No	ClinGen ExAC gnomAD
CA9297819 rs754029122	1398	Q>K		No	ClinGen ExAC gnomAD
rs780139418 CA9297818	1399	T>M		No	ClinGen ExAC TOPMed gnomAD
CA404693070 rs1460227209	1400	M>I		No	ClinGen TOPMed
CA404693082 rs1286083799	1400	M>L		No	ClinGen gnomAD
CA9297789 rs765921055	1401	I>V		No	ClinGen ExAC
rs1568505908 CA404692198	1405	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	1409	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555777710 CA404692099	1409	G>S		No	ClinGen Ensembl
rs754682213 CA9297773	1410	K>E		No	ClinGen ExAC gnomAD
CA404691981 rs1365686175	1412	L>S		No	ClinGen TOPMed
CA404691636 rs1599338322	1415	G>D		No	ClinGen Ensembl
CA9297756 rs755455715	1417	V>G		No	ClinGen ExAC
CA404691609 rs1177216835	1417	V>M		No	ClinGen gnomAD
rs755686090 CA9297753	1419	L>F		No	ClinGen ExAC gnomAD
CA9297752 rs201764059	1420	P>Q		No	ClinGen ExAC gnomAD
CA404690221 rs1568504016	1426	T>S		No	ClinGen Ensembl
CA9297720 rs769312056	1428	M>I		No	ClinGen ExAC gnomAD
CA9297719 rs749743160	1429	I>F		No	ClinGen ExAC gnomAD
CA9297718 rs373988526	1429	I>T		No	ClinGen ESP ExAC gnomAD
CA9297716 rs780747664	1431	N>I		No	ClinGen ExAC TOPMed gnomAD
CA9297715 rs780747664	1431	N>S		No	ClinGen ExAC TOPMed gnomAD
rs191793337 CA306086366	1435	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404689838 rs1321047599	1437	G>R		No	ClinGen gnomAD
rs1449626971 CA404689317	1444	D>E		No	ClinGen gnomAD
rs1398817131 CA404689195	1448	R>*		No	ClinGen gnomAD
CA404689192 rs1379459241	1448	R>Q		No	ClinGen TOPMed
rs952322364 CA306086189	1451	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1451	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9297692 rs746598733	1452	K>R		No	ClinGen ExAC gnomAD
rs371818617 CA9297691	1456	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408409763 CA404688929	1459	C>Y		No	ClinGen gnomAD
rs747635066 CA9297689	1460	A>S		No	ClinGen ExAC TOPMed gnomAD
rs747635066 CA404688867	1460	A>T		No	ClinGen ExAC TOPMed gnomAD
CA404688860 rs1237421915	1460	A>V		No	ClinGen TOPMed gnomAD
CA9297686 rs775593149	1462	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1473	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404737149 rs750209384	1474	H>Q		No	ClinGen ExAC gnomAD
rs1398417641 CA404737141	1475	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404737127 rs1163677394	1476	G>A		No	ClinGen gnomAD
rs1359629607 CA404737132	1476	G>R		No	ClinGen gnomAD
rs1568503148 CA404737100	1479	G>S		No	ClinGen Ensembl
rs1164003771 CA404737068	1481	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	1486	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759531080 CA9297661	1488	S>G		No	ClinGen ExAC gnomAD
TCGA novel	1490	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421466577 CA404736917	1492	Q>E		No	ClinGen TOPMed
rs1489673184 CA404736895	1492	Q>H		No	ClinGen gnomAD
rs1264141893 CA404736890	1493	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	1493	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404736826 rs1568503079	1494	L>F		No	ClinGen Ensembl
CA9297659 rs761070420	1495	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9297658 rs761070420	1495	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9297657 rs368231008	1495	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA404736810 rs1340197638	1496	Y>H		No	ClinGen gnomAD
CA404736815 rs1340197638	1496	Y>N		No	ClinGen gnomAD
CA306139847 rs1040780058	1496	Y>S		No	ClinGen TOPMed
rs1568503049 CA404736764	1499	S>L		No	ClinGen Ensembl
rs1292827050 CA404736756	1500	L>I		No	ClinGen gnomAD
CA9297655 rs761475197	1502	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1477287275 CA404736676	1504	A>T		No	ClinGen gnomAD
CA404736628 rs1435226513	1506	D>E		No	ClinGen gnomAD
CA9297652 rs748720905	1506	D>N		No	ClinGen ExAC gnomAD
CA404736641 rs748720905	1506	D>Y		No	ClinGen ExAC gnomAD
CA9297651 rs780077802	1514	Q>R		No	ClinGen ExAC gnomAD
CA404736475 rs1250679701	1515	T>M		No	ClinGen TOPMed gnomAD
CA404736477 rs1250679701	1515	T>R		No	ClinGen TOPMed gnomAD
CA404736433 rs1196902520	1517	S>L		No	ClinGen gnomAD
CA9297649 rs745678929	1519	Q>L		No	ClinGen ExAC gnomAD
CA404733744 rs1199905098	1520	G>A		No	ClinGen gnomAD
COSM3388711 rs780254235 CA9297606	1521	L>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9297605 rs531265356	1521	L>W		No	ClinGen 1000Genomes ExAC gnomAD
CA9297604 rs562704484	1522	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA404733687 rs1277022653	1525	D>A		No	ClinGen TOPMed gnomAD
CA404733685 rs1277022653	1525	D>V		No	ClinGen TOPMed gnomAD
CA404733630 rs1332635668	1530	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs985406168 CA306134548	1531	S>C		No	ClinGen gnomAD
CA9297602 rs761603484	1533	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA404733580 rs1415300147	1534	V>I		No	ClinGen TOPMed gnomAD
rs1314221842 CA404733529	1538	T>A		No	ClinGen TOPMed
rs758784380 CA9297599	1539	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1004962164 CA306134516	1539	H>N		No	ClinGen TOPMed gnomAD
rs1261265913 CA404733478	1542	T>S		No	ClinGen TOPMed
rs1355518349 CA404733435	1548	T>I		No	ClinGen TOPMed
rs1599823981 CA404733196	1552	V>G		No	ClinGen Ensembl
CA9297580 rs778740104	1553	A>P		No	ClinGen ExAC gnomAD
rs753414273 CA9297578	1555	N>S		No	ClinGen ExAC TOPMed gnomAD
CA404733050 rs1299867029	1560	Q>P		No	ClinGen TOPMed gnomAD
rs1023883384 CA306133115	1570	E>D		No	ClinGen TOPMed
rs1159927210 CA404732873	1570	E>K		No	ClinGen TOPMed gnomAD
CA9297570 rs759684965	1574	I>V		No	ClinGen ExAC gnomAD
rs1012166441 CA306133089	1575	G>E		No	ClinGen TOPMed
TCGA novel	1576	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770973163 COSM182036 CA404732311	1580	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770973163 CA9297568	1580	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA404732281 rs1485102366	1581	K>R		No	ClinGen gnomAD
rs1362801619 CA404732255	1583	R>C		No	ClinGen gnomAD
CA306133077 rs1027624317	1583	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404732244 rs1027624317	1583	R>L		No	ClinGen gnomAD
CA404732224 rs1222982701	1585	F>L		No	ClinGen gnomAD
rs773631668 TCGA novel CA9297566	1590	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA9297565 rs769751703	1592	N>S		No	ClinGen ExAC TOPMed gnomAD
rs748547532 CA9297564	1593	S>R		No	ClinGen ExAC gnomAD
TCGA novel	1594	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380253191 CA404732071	1594	W>R		No	ClinGen gnomAD
CA306133050 rs1002851130	1595	A>V		No	ClinGen TOPMed gnomAD
CA9297563 rs779365361	1597	K>T		No	ClinGen ExAC gnomAD
CA404731982 rs1257995991	1598	Y>*		No	ClinGen gnomAD
CA404731986 rs1170179485	1598	Y>F		No	ClinGen TOPMed
rs1391626133 CA404731965	1599	N>K		No	ClinGen gnomAD
rs1163659029 CA404731954	1600	E>D		No	ClinGen gnomAD
CA9297562 rs754684401	1601	S>G		No	ClinGen ExAC gnomAD
rs748963995 CA9297561	1601	S>N		No	ClinGen ExAC gnomAD
CA9297542 rs769203822	1605	T>P		No	ClinGen ExAC gnomAD
CA306129387 rs925014869	1606	L>M		No	ClinGen TOPMed gnomAD
CA306129365 rs925014869	1606	L>V		No	ClinGen TOPMed gnomAD
rs371470309 CA9297541	1608	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA404731065 rs1437024536	1609	D>V		No	ClinGen gnomAD
CA404731023 rs1173595584	1610	A>V		No	ClinGen gnomAD
CA9297540 rs572398538	1611	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs998716252 CA306129343	1612	P>T		No	ClinGen TOPMed gnomAD
rs756752426 CA9297536	1613	E>G		No	ClinGen ExAC gnomAD
CA9297537 rs780610012	1613	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs544942033 CA9297534	1614	C>*		No	ClinGen 1000Genomes ExAC gnomAD
CA404730960 rs1279285482	1614	C>S		No	ClinGen gnomAD
CA9297533 rs758167515	1615	Y>C		No	ClinGen ExAC gnomAD
CA404730907 rs1277700723	1617	L>M		No	ClinGen TOPMed gnomAD
CA404730906 rs1277700723	1617	L>V		No	ClinGen TOPMed gnomAD
rs1237777083 CA404730897	1618	Q>P		No	ClinGen gnomAD
CA404730880 rs1412493977	1619	V>A		No	ClinGen gnomAD
CA9297531 rs779007137 COSM1231750	1619	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1312589958 CA404730867	1620	C>Y		No	ClinGen TOPMed gnomAD
CA9297529 rs750475637	1623	D>E		No	ClinGen ExAC gnomAD
TCGA novel	1623	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1624	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9297528 rs767775033	1625	C>Y		No	ClinGen ExAC gnomAD
CA404730745 rs1369095294	1626	F>L		No	ClinGen gnomAD
CA404730733 rs1190364081	1627	A>V		No	ClinGen gnomAD
rs1256550652 CA404730708	1629	E>K		No	ClinGen gnomAD
CA404730697 rs1448507776	1630	D>Y		No	ClinGen gnomAD
rs1599818423 CA404730685	1631	R>G		No	ClinGen Ensembl
rs1282124243 CA404730683	1631	R>H		No	ClinGen gnomAD
rs775051410 CA9297526	1632	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1294540822 CA404730628	1636	A>T		No	ClinGen gnomAD
TCGA novel	1638	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306129197 rs866378892	1639	Q>R		No	ClinGen Ensembl
rs769332211 CA404730565	1640	L>V		No	ClinGen ExAC gnomAD
CA404730551 rs1401050066	1641	R>C		No	ClinGen gnomAD
CA9297521 rs745598504	1641	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780807844 CA9297520	1642	E>Q		No	ClinGen ExAC gnomAD
CA404730529 rs1391565838	1643	L>M		No	ClinGen TOPMed gnomAD
CA404730528 rs1391565838	1643	L>V		No	ClinGen TOPMed gnomAD
rs1033548134 CA306129185	1644	A>S		No	ClinGen gnomAD
rs767945914 CA306129183	1644	A>V		No	ClinGen Ensembl
rs1417486551 CA404730463	1646	R>H		No	ClinGen TOPMed gnomAD
rs1194631879 CA404730431	1648	S>G		No	ClinGen gnomAD
CA404730398 rs1240102804	1649	A>V		No	ClinGen gnomAD
rs758307160 CA9297516	1650	A>D		No	ClinGen ExAC TOPMed gnomAD
rs758307160 CA404730377	1650	A>G		No	ClinGen ExAC TOPMed gnomAD
rs777719364 CA9297517	1650	A>T		No	ClinGen ExAC TOPMed gnomAD
CA404730365 rs1274510398	1651	C>Y		No	ClinGen gnomAD
CA404730358 rs1474139147	1652	W>R		No	ClinGen gnomAD
CA306129156 rs200136903	1654	P>A		No	ClinGen gnomAD
rs577178783 CA9297515	1654	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754726804 CA9297513	1657	R>H		No	ClinGen ExAC gnomAD
rs375311076 CA306129134	1660	H>P		No	ClinGen Ensembl
CA306129125 rs911999879	1661	M>V		No	ClinGen TOPMed gnomAD
rs750734751 CA9297512	1662	D>E		No	ClinGen ExAC gnomAD
CA404730156 rs1459988276	1662	D>N		No	ClinGen gnomAD
CA404730140 rs1171696144	1663	D>N		No	ClinGen gnomAD
rs762028574 CA9297510	1664	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1167038020 CA404730065	1667	T>M		No	ClinGen gnomAD
CA404730021 rs1191643246	1671	I>F		No	ClinGen gnomAD
rs770250093 CA9297505	1675	R>C		No	ClinGen ExAC gnomAD
CA306129006 rs868352249	1675	R>H		No	ClinGen gnomAD
CA404729957 rs1271848157	1676	S>R		No	ClinGen gnomAD
CA404729945 rs746545284	1676	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1214412745 CA404729948	1676	S>T		No	ClinGen gnomAD
rs777207198 CA9297500	1677	N>S		No	ClinGen ExAC TOPMed gnomAD
CA404729912 rs890020457	1678	D>E		No	ClinGen gnomAD
CA404729923 rs1382225197	1678	D>N		No	ClinGen Ensembl
CA404729888 rs1370370697	1680	V>A		No	ClinGen TOPMed gnomAD
CA9297499 rs771909449	1681	A>S		No	ClinGen ExAC gnomAD
rs1353042878 CA404729868	1682	K>R		No	ClinGen TOPMed gnomAD
CA404729858 rs1414870938	1683	E>K		No	ClinGen gnomAD
CA404729855 rs1414870938	1683	E>Q		No	ClinGen gnomAD
CA404729842 rs1171715452	1684	F>L		No	ClinGen gnomAD
rs1380384809 CA404729816	1686	K>Q		No	ClinGen gnomAD
rs778704405 CA9297497	1687	L>V		No	ClinGen ExAC gnomAD
rs1210347622 CA404729782	1688	K>R		No	ClinGen gnomAD
rs1282853283 CA404729767	1689	S>W		No	ClinGen gnomAD
CA404729751 rs1306708055	1690	D>V		No	ClinGen TOPMed
CA404729743 rs1352331907	1691	T>A		No	ClinGen TOPMed
TCGA novel	1691	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306128922 rs372458664	1691	T>M		No	ClinGen ESP TOPMed gnomAD
CA306128920 rs1022665698	1694	A>S		No	ClinGen TOPMed
rs1250985576 CA404729704	1694	A>V		No	ClinGen TOPMed
CA404729701 rs1236622987	1695	E>K		No	ClinGen TOPMed
rs1439139900 CA404729682	1696	E>*		No	ClinGen TOPMed
rs758392831 CA404729663	1697	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1174364456 CA404729665	1697	G>S		No	ClinGen TOPMed
rs758392831 CA9297490	1697	G>V		No	ClinGen ExAC TOPMed gnomAD
rs374975843 CA9297487	1698	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9297486 rs372747454	1700	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs760261470 CA9297484	1701	P>L		No	ClinGen ExAC gnomAD
rs1375758674 CA404729640	1701	P>S		No	ClinGen TOPMed
rs771677125 CA9297482	1702	A>E		No	ClinGen ExAC TOPMed gnomAD
CA404729624 rs771677125	1702	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9297481 rs747578104	1703	P>L		No	ClinGen ExAC gnomAD
rs1251885771 CA404729609	1704	P>K		No	ClinGen TOPMed
rs768424710 CA404729591	1704	P>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9UPW8

8 regional properties for Q9UPW8

Type	Name	Position	InterPro Accession
domain	C2 domain	1 - 98	IPR000008-1
domain	C2 domain	659 - 785	IPR000008-2
domain	C2 domain	1526 - 1655	IPR000008-3
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	553 - 603	IPR002219
domain	MUN domain	993 - 1512	IPR010439
domain	Munc13 homology 1	1093 - 1236	IPR014770
domain	Mammalian uncoordinated homology 13, domain 2	1345 - 1512	IPR014772
domain	Protein Unc-13, C2B domain	676 - 802	IPR037302

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell membrane ; Peripheral membrane protein Presynaptic cell membrane ; Peripheral membrane protein Presynaptic active zone	Translocated to the plasma membrane in response to phorbol ester binding
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
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.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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.

12 GO annotations of biological process

Name	Definition
cell differentiation	The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
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.
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.
neuronal dense core vesicle exocytosis	The secretion of molecules (e.g. neuropeptides, insulin-related peptides or neuromodulators such as serotonin and dopamine) contained within a neuronal dense core vesicle by fusion of the granule with the plasma membrane of a neuron in response to increased cytosolic calcium levels.
neurotransmitter secretion	The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission.
positive regulation of dendrite extension	Any process that activates or increases the frequency, rate or extent of dendrite extension.
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.
regulation of synaptic transmission, glutamatergic	Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.
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
Q8NB66	UNC13C	Protein unc-13 homolog C	Homo sapiens (Human)	SS
O14795	UNC13B	Protein unc-13 homolog B	Homo sapiens (Human)	SS
Q8K0T7	Unc13c	Protein unc-13 homolog C	Mus musculus (Mouse)	SS
Q9Z1N9	Unc13b	Protein unc-13 homolog B	Mus musculus (Mouse)	SS
Q4KUS2	Unc13a	Protein unc-13 homolog A	Mus musculus (Mouse)	SS
Q62770	Unc13c	Protein unc-13 homolog C	Rattus norvegicus (Rat)	SS
Q62769	Unc13b	Protein unc-13 homolog B	Rattus norvegicus (Rat)	SS
Q62768	Unc13a	Protein unc-13 homolog A	Rattus norvegicus (Rat)	SS
P27715	unc-13	Phorbol ester/diacylglycerol-binding protein unc-13	Caenorhabditis elegans	EV

10	20	30	40	50	60
MSLLCVGVKK	AKFDGAQEKF	NTYVTLKVQN	VKSTTIAVRG	SQPSWEQDFM	FEINRLDLGL
70	80	90	100	110	120
TVEVWNKGLI	WDTMVGTVWI	PLRTIRQSNE	EGPGEWLTLD	SQVIMADSEI	CGTKDPTFHR
130	140	150	160	170	180
ILLDTRFELP	LDIPEEEARY	WAKKLEQLNA	MRDQDEYSFQ	DEQDKPLPVP	SNQCCNWNYF
190	200	210	220	230	240
GWGEQHNDDP	DSAVDDRDSD	YRSETSNSIP	PPYYTTSQPN	ASVHQYSVRP	PPLGSRESYS
250	260	270	280	290	300
DSMHSYEEFS	EPQALSPTGS	SRYASSGELS	QGSSQLSEDF	DPDEHSLQGS	DMEDERDRDS
310	320	330	340	350	360
YHSCHSSVSY	HKDSPRWDQD	EEELEEDLED	FLEEEELPED	EEELEEEEEE	VPDDLGSYAQ
370	380	390	400	410	420
REDVAVAEPK	DFKRISLPPA	APGKEDKAPV	APTEAPDMAK	VAPKPATPDK	VPAAEQIPEA
430	440	450	460	470	480
EPPKDEESFR	PREDEEGQEG	QDSMSRAKAN	WLRAFNKVRM	QLQEARGEGE	MSKSLWFKGG
490	500	510	520	530	540
PGGGLIIIDS	MPDIRKRKPI	PLVSDLAMSL	VQSRKAGITS	ALASSTLNNE	ELKNHVYKKT
550	560	570	580	590	600
LQALIYPISC	TTPHNFEVWT	ATTPTYCYEC	EGLLWGIARQ	GMRCTECGVK	CHEKCQDLLN
610	620	630	640	650	660
ADCLQRAAEK	SSKHGAEDRT	QNIIMVLKDR	MKIRERNKPE	IFELIQEIFA	VTKTAHTQQM
670	680	690	700	710	720
KAVKQSVLDG	TSKWSAKISI	TVVCAQGLQA	KDKTGSSDPY	VTVQVGKTKK	RTKTIYGNLN
730	740	750	760	770	780
PVWEENFHFE	CHNSSDRIKV	RVWDEDDDIK	SRVKQRFKRE	SDDFLGQTII	EVRTLSGEMD
790	800	810	820	830	840
VWYNLDKRTD	KSAVSGAIRL	HISVEIKGEE	KVAPYHVQYT	CLHENLFHFV	TDVQNNGVVK
850	860	870	880	890	900
IPDAKGDDAW	KVYYDETAQE	IVDEFAMRYG	VESIYQAMTH	FACLSSKYMC	PGVPAVMSTL
910	920	930	940	950	960
LANINAYYAH	TTASTNVSAS	DRFAASNFGK	ERFVKLLDQL	HNSLRIDLSM	YRNNFPASSP
970	980	990	1000	1010	1020
ERLQDLKSTV	DLLTSITFFR	MKVQELQSPP	RASQVVKDCV	KACLNSTYEY	IFNNCHELYS
1030	1040	1050	1060	1070	1080
REYQTDPAKK	GEVLPEEQGP	SIKNLDFWSK	LITLIVSIIE	EDKNSYTPCL	NQFPQELNVG
1090	1100	1110	1120	1130	1140
KISAEVMWNL	FAQDMKYAME	EHDKHRLCKS	ADYMNLHFKV	KWLYNEYVTE	LPAFKDRVPE
1150	1160	1170	1180	1190	1200
YPAWFEPFVI	QWLDENEEVS	RDFLHGALER	DKKDGFQQTS	EHALFSCSVV	DVFSQLNQSF
1210	1220	1230	1240	1250	1260
EIIKKLECPD	PQIVGHYMRR	FAKTISNVLL	QYADIISKDF	ASYCSKEKEK	VPCILMNNTQ
1270	1280	1290	1300	1310	1320
QLRVQLEKMF	EAMGGKELDA	EASDILKELQ	VKLNNVLDEL	SRVFATSFQP	HIEECVKQMG
1330	1340	1350	1360	1370	1380
DILSQVKGTG	NVPASACSSV	AQDADNVLQP	IMDLLDSNLT	LFAKICEKTV	LKRVLKELWK
1390	1400	1410	1420	1430	1440
LVMNTMEKTI	VLPPLTDQTM	IGNLLRKHGK	GLEKGRVKLP	SHSDGTQMIF	NAAKELGQLS
1450	1460	1470	1480	1490	1500
KLKDHMVREE	AKSLTPKQCA	VVELALDTIK	QYFHAGGVGL	KKTFLEKSPD	LQSLRYALSL
1510	1520	1530	1540	1550	1560
YTQATDLLIK	TFVQTQSAQG	LGVEDPVGEV	SVHVELFTHP	GTGEHKVTVK	VVAANDLKWQ
1570	1580	1590	1600	1610	1620
TSGIFRPFIE	VNIIGPQLSD	KKRKFATKSK	NNSWAPKYNE	SFQFTLSADA	GPECYELQVC
1630	1640	1650	1660	1670	1680
VKDYCFARED	RTVGLAVLQL	RELAQRGSAA	CWLPLGRRIH	MDDTGLTVLR	ILSQRSNDEV
1690	1700
AKEFVKLKSD	TRSAEEGGAA	PAP

Descriptions

Annotation based on sequence homology with P27715

Autoinhibitory domains (AIDs)

Accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9UPW8

1058 variants for Q9UPW8

No associated diseases with Q9UPW8

8 regional properties for Q9UPW8

Functions

8 GO annotations of cellular component

5 GO annotations of molecular function

12 GO annotations of biological process

9 homologous proteins in AiPD