AiPD: Autoinhibited Protein Database

Q07890

Gene name	SOS2
Protein name	Son of sevenless homolog 2
Names	SOS-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6655
EC number
Protein Class

Descriptions

The translocation of Son of Sevenless 1 (SOS1) protein to the plasma membrane enables activation of membrane-bound Ras, which is a vital regulator of cell proliferation and differentiation. The autoinhibitory conformation of SOS1 consists of the histone domain, the Dbl homology (DH), the Pleckstrin homology (PH) domain, and PH-Rem helical linker. SOS is inactive by the DH-PH unit, which blocks allosteric Ras binding. In addition, the histone domain plays a dual role in occluding the allosteric site and in stabilizing the autoinhibitory conformation of the DH-PH unit. Autoinhibition of the catalytic domain of SOS is released by enhancing the density of PIP2 and the local concentration of Ras-GTP, consequently increasing the activity of SOS at the membrane.

Autoinhibitory domains (AIDs)

198-388 (DH domain) SS

Target domain	774-1018 (Ras guanine-nucleotide exchange factors catalytic domain)
Relief mechanism	Partner binding
Assay

AID

198-388 (DH domain)

Target domain

774-1018 (Ras guanine-nucleotide exchange factors catalytic domain)

Relief mechanism

Partner binding (Ras binding to allosteric site)

Assay

441-546 (PH domain) SS

Target domain	774-1018 (Ras guanine-nucleotide exchange factors catalytic domain)
Relief mechanism	Ligand binding
Assay

AID

441-546 (PH domain)

Target domain

774-1018 (Ras guanine-nucleotide exchange factors catalytic domain)

Relief mechanism

Ligand binding (PIP2 binding to the PH domain)

Assay

Accessory elements

No accessory elements

References

Tartaglia M et al. (2010) "Noonan syndrome: clinical aspects and molecular pathogenesis", Molecular syndromology, 1, 2-26

Sondermann H et al. (2004) "Structural analysis of autoinhibition in the Ras activator Son of sevenless", Cell, 119, 393-405

Gureasko J et al. (2010) "Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless", Proceedings of the National Academy of Sciences of the United States of America, 107, 3430-5

Autoinhibited structure

Activated structure

8 structures for Q07890

Entry ID	Method	Resolution	Chain	Position	Source
6EIE	X-ray	272 A	A	562-1047	PDB
8T5G	X-ray	192 A	A	562-1047	PDB
8T5M	X-ray	179 A	A	562-1047	PDB
8T5R	X-ray	212 A	A	562-1047	PDB
8UC9	X-ray	244 A	A	565-1047	PDB
8UF2	X-ray	160 A	A	562-1047	PDB
8UH0	X-ray	273 A	A	565-1041	PDB
AF-Q07890-F1	Predicted				AlphaFoldDB

1242 variants for Q07890

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs750929787 RCV001925067	17	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs1887534256 RCV001813717	25	S>L	Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs2139796314 RCV001879005	39	S>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001952667 rs575983927	41	N>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001313940 rs764257310	45	L>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
rs1162838729 RCV002027305	46	Y>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000366863 rs763552267 CA7177602 RCV003422189	48	I>V	SOS2-related condition [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2139796125 RCV002227673	55	L>P	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002033111 rs2139796115	58	K>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs774761716 RCV001948308 RCV002407101	61	M>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1886594687 RCV001240821	62	A>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002411671 RCV001174628 RCV002468181 rs771269309	63	Q>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001037486 rs1886470934	74	V>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2139783861 RCV001898247	75	Q>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001295786 rs565261873	77	T>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002443015 RCV001984338 RCV003402024 rs545263131	82	I>V	Noonan syndrome 9 SOS2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002458466 rs146272145 RCV000801445	86	A>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs747274422 RCV002004015 RCV002441198	87	I>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
COSM4051025 COSM4051024 RCV000810944 rs777574895	97	R>Q	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	NCI-TCGA Cosmic ClinVar ExAC TOPMed dbSNP gnomAD
RCV002023593 rs369592322 COSM95263	99	R>Q	Noonan syndrome 9 breast [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ESP TOPMed dbSNP
RCV002000933 rs2139783538	102	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV003392517 RCV000681069 rs1566477432	108	D>N	SOS2-related condition [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs751240491 RCV001243187	113	S>L	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1456011298 RCV001932681	121	K>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001813589 rs1208838203 RCV001307479 RCV002456395	122	V>M	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV002343932 RCV001871005 rs777300218	125	H>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1886426829 RCV001299278	130	I>M	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001874570 rs1886424881	150	F>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs779591050 RCV001302584	153	R>Q	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA389649430 RCV000521760 rs1555322175	166	M>V	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001360043 rs2139778845	168	A>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs561507728 RCV001219555	172	L>F	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001868521 RCV001752646 rs2139734704	174	D>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1336823806 RCV001299539	175	M>L	Noonan syndrome 9 [ClinVar]	Yes	Ensembl ClinVar dbSNP
rs770603835 RCV001878761 RCV002343934 RCV002469418	178	Q>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2139734609 RCV001988284	178	Q>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA389648322 rs1273376869 RCV000652819	178	Q>P	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001057594 rs1886006429	181	I>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001542384 RCV002343721 rs149487643	182	G>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001813502 RCV002350385 rs137961578 RCV000586255 RCV002021028 RCV001079947 RCV000608191 RCV001261119 CA7177503	183	L>F	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome Noonan syndrome [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD ClinGen
RCV001813716 rs1203751748	185	S>Y	Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV003754921 rs2139734457 RCV001816137	186	L>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs72681869 RCV001349888	191	P>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000989216 RCV000613515 RCV001813488 rs72681869 RCV002350134 CA7177497 RCV000513780	191	P>R	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001328558 rs1886005265	192	S>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001993942 rs1886005265	192	S>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001797010 rs1886005182	192	S>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs769352438 RCV001901481	194	S>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
RCV002031753 rs753283972	198	N>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002354841 RCV000945752 rs148595463	200	Y>C	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001175494 rs61755579 RCV000652814 CA7177485	208	A>S	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001813479 RCV000554272 RCV002365514 CA7177484 RCV000586888 rs61755579	208	A>T	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001779508 rs538341032 RCV002074068	215	R>Q	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV003166576 rs745812984 RCV003416129 RCV001253074	215	R>W	Noonan syndrome 9 SOS2-related condition Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002048436 rs2139733977	221	I>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000693191 RCV000412844 rs780580623 CA7177479 RCV002365451	225	R>Q	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756565236 RCV001795581	227	A>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs756565236 RCV002159719 RCV003161343	227	A>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2139733738 RCV002026561	237	P>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
RCV001971918 rs1885779266	240	I>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs148747022 RCV000691771	241	E>K	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000696464 rs1348457314	260	L>F	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1885777585 RCV001250767	266	E>DK	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_075686 rs797045167 CA204984 RCV000191031 RCV003320592	267	M>K	Noonan syndrome 9 NS9 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA16021010 RCV000414175 COSM1748863 rs797045167 COSM1748864 RCV001250768	267	M>T	Noonan syndrome 9 urinary_tract [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM221033 rs775494170 COSM221032 RCV001045013	271	S>G	Noonan syndrome 9 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs2139709714 RCV001995415	280	C>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000703605 rs530007285	280	C>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA389647625 RCV003754879 RCV000521009 rs1555371627	281	F>S	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1248787575 RCV002029860	300	I>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
VAR_075687	310	N>K	NS9; uncertain significance [UniProt]	Yes	UniProt
rs746412601 RCV001884851	310	N>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001243522 rs1885702958	314	A>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001779511 rs2139702139 RCV001885142	315	R>K	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1885702697 RCV001730065	316	P>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs2139702095 RCV001928374	317	A>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1329480973 RCV002039068	319	A>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001961361 RCV002286866 rs2139679163	325	I>M	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
COSM3419833 rs1364027643 COSM3419834 RCV001991614	334	R>C	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
VAR_075688 rs373233749	334	R>H	NS9; uncertain significance [UniProt]	Yes	UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001878363 rs1204583343	337	L>F	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1204583343 RCV001876392	337	L>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1885462935 RCV001221027	348	C>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002014939 rs1447501425	374	A>D	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
VAR_075689 RCV000191030 rs869320687 RCV000224178 RCV000845122 RCV003454490 CA358853	376	T>S	Noonan syndrome 9 Noonan syndrome Noonan syndrome 1 NS9 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000845123 RCV003223414 rs1594982548	376	T>S	Noonan syndrome 9 Noonan syndrome [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001885257 RCV001806750 RCV002359263 rs776909576	386	D>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000489878 CA389646398 RCV003754878 rs1085307558	392	Y>C	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs144332746 RCV001204561	394	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001880152 rs777771444 RCV001267625 RCV002339703	397	R>G	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001422855 rs200368064 CA7177310 RCV001813538	400	D>N	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003167033 rs201821194 RCV001906147	403	C>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs201265921 RCV002074230 RCV002271674 RCV001813626	404	P>L	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2139630118 RCV002273211	408	H>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001968395 rs2139630042	416	A>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
rs199998698 RCV002021177	419	K>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001304311 RCV003106188 rs755550719	422	E>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs375244948 RCV002447309 RCV001305509	422	E>K	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs372203654 RCV000331734 CA10603206 RCV001859539	425	K>E	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs146283711 RCV003772193 RCV001797924	428	D>N	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2139629861 RCV001922208	434	D>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs368795570 RCV001912615	438	C>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001071680 RCV002379633 rs1884941722	440	N>K	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1884941577 RCV001297436	444	M>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs886268693 COSM3744350 RCV001774214 RCV001882882 COSM3744351	459	I>V	Noonan syndrome 9 liver [ClinVar, Cosmic]	Yes	cosmic curated ClinVar Ensembl dbSNP
rs1353990634 RCV002020179	471	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001174667 rs756637706 RCV002559676	473	H>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001365848 rs2139629330	476	T>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs139953230 RCV001975927	477	R>Q	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC dbSNP gnomAD
rs1555370121 RCV001174995 CA389645801 RCV000624770	477	R>W	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1195086721 RCV001983478	482	S>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs17122201 RCV002393023 VAR_054327 CA7177276 RCV001813483 RCV000590481 RCV001084971	483	S>N	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1884937684 RCV001985810	494	M>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV000652830 CA7177271 rs141604342 RCV001613429	507	E>D	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001935116 rs2139628968	515	V>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001991339 rs367970301	517	K>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001919032 rs1884935096 RCV002397901	519	E>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1884934797 RCV001372130 RCV002550145	523	I>V	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001991233 rs2139628740	529	A>P	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001881685 rs778331065	531	E>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs1484591662 RCV001985052	533	N>K	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001879819 RCV001251318 RCV002393667 rs748632850	537	A>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs781687371 RCV001979562	539	L>F	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001991255 rs148019428	545	R>C	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002290676 RCV001267314 rs1344304906	550	R>G	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs763829729 RCV002023912	554	S>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001914245 rs762733592	572	V>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001919028 rs748480687	578	K>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001922556 rs2139628200	579	D>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
rs1388854755 RCV002013502	583	N>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV002005814 rs2139627990	596	I>M	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001978462 rs769210427	604	V>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs772156276 RCV001212638	620	N>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000585616 CA389644787 RCV000765167 rs1555370029	621	F>V	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000652818 CA7177219 rs138459515	623	R>H	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000886277 rs754778456	630	R>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1884893175 RCV001220891	634	K>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV003754932 rs751563078 RCV002240110	637	E>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002254851 rs1317956888	658	K>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001050438 rs1391029692 RCV002416379	659	L>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001924285 rs1460978115	661	I>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001081985 RCV003159656 RCV000612567 VAR_034441 CA7177182 rs34139502 RCV000513866	672	L>I	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001890304 rs371205081	674	R>K	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP TOPMed dbSNP
rs1884843220 RCV001903671	683	V>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs766745289 RCV001367400	690	V>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2139604459 RCV002021749	702	F>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000414721 RCV003754876 rs1057518079 CA16042859	705	D>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000652816 RCV003117456 CA7177126 rs369462490	707	E>G	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7177125 rs768829374 RCV000528232	710	E>Q	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001496288 rs534384816 RCV003243379	713	E>Q	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002425187 rs769787486 RCV001896158	722	K>N	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002282341 rs1566827698 RCV000704028	723	A>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2139595594 RCV002254865	728	V>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs746664310 RCV001918717	731	I>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002074427 rs186110427 RCV001899806 RCV002422913	739	K>N	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001762699 RCV002432371 rs576277421 RCV002208784 RCV001488369	740	Q>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1594973893 RCV000795122	741	A>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001995744 RCV002425374 rs764992819	749	N>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs761689009 RCV000532020 CA7177082	749	N>S	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1392882497 RCV001893625	752	F>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs181275468 RCV000807019 RCV002282373 RCV001261124	754	S>N	Noonan syndrome 9 Noonan syndrome [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV003380843 RCV001070128 rs868005783	755	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV002003946 rs775139330	757	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001890398 rs956839910	759	I>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001222646 rs779464455	764	S>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs778281839 RCV000685485	768	Q>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs2139595006 RCV001843767	770	E>K	Developmental disorder [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs200715068 RCV001220096	772	F>C	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001872660 rs2139594970	772	F>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1884612400 RCV001304130	773	D>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA7177070 rs114711076 RCV001085844 RCV001261126 RCV001328386 RCV000417876	773	D>H	Noonan syndrome 9 Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV003375503 rs151074097 RCV002002579	777	L>F	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV003235543 RCV001297589 rs774498876	783	A>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs760520078 RCV002220629	784	R>C	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001912716 rs771681478	788	L>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV003235396 RCV000792384 rs142863840	789	L>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs773672997 RCV003453419 RCV002458207 RCV000687358	799	P>L	Noonan syndrome 9 Noonan syndrome 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs886041958 RCV000703487 CA10603318 RCV000276484	815	N>D	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001770692 COSM1195340 rs1433825913 COSM1195339 RCV001861099	824	R>H	lung Noonan syndrome 9 [Cosmic, ClinVar]	Yes	cosmic curated ClinVar dbSNP gnomAD
RCV002027733 rs553153992	831	L>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001936853 rs1469543967	837	I>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV002222281 rs2139576871	847	V>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs781119008 RCV001974939	864	N>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002431764 RCV000792762 RCV000610376 CA7177004 rs561495878	867	N>S	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV003159933 rs751419448 RCV000553008 CA7177003	868	G>S	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs750095346 RCV000808807	869	V>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000701667 rs373143128 RCV002282338	869	V>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001346095 rs775815870	886	H>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV003774645 rs556373963 RCV002222879	901	E>K	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV003323821 RCV003163756 RCV001225500 rs745788940	903	V>M	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001946068 rs957376198	908	D>N	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003170569 RCV002020346 rs756711721	910	F>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV003396384 rs755783805 RCV000796489 RCV003396383	920	I>V	Noonan syndrome 9 SOS2-related condition [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs765330931 RCV001217325	950	G>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs200387871 RCV001193657 RCV000652821 CA7176923 RCV001813537 VAR_075691 RCV003403501 RCV002440369	952	D>N	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001914735 rs1884164664	973	Q>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs2139550610 RCV001900735 RCV002440955	980	R>Q	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs367670036 RCV001927744	985	M>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC dbSNP gnomAD
rs2139550560 RCV001973132	985	M>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000560702 CA7176917 RCV002438486 rs772746106 RCV001779007 COSM1730888 COSM1730889	986	R>K	Noonan syndrome 9 liver [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000814711 rs761320331 RCV003166336	990	E>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1883999905 RCV001931209	991	N>K	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs776000121 CA7176895 RCV000261274 RCV002436096 RCV001855076	993	N>I	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768403750 RCV001987653	993	N>K	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs1883999639 RCV001307551	994	P>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001218495 rs1883999558	994	P>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs746630297 RCV001966557	995	M>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs933544183 RCV003307542 RCV000818959	995	M>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001226516 RCV002436877 rs780598157	996	G>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs2139528773 RCV001921482	1008	F>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
RCV002468259 RCV001526934 rs779413196 RCV002439214	1009	N>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs181284424 RCV001990627	1010	K>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes dbSNP
rs1447097552 RCV001922176	1014	I>M	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs1883997609 RCV001928937	1019	C>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001928586 rs2139528591 RCV002449581	1022	P>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002028791 rs1287471667	1023	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001991933 rs2139513281	1026	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000681418 rs201874067 RCV003392518 RCV003303104 RCV001058885	1026	P>S	Noonan syndrome 9 SOS2-related condition [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7176871 RCV002325091 RCV000559916 RCV003392402 RCV001261127 RCV001251388 rs550680554	1030	T>A	Noonan syndrome 9 Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1883841371 RCV001063075	1038	I>M	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2139513028 RCV001895505	1049	S>P	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001985626 rs1012247714	1050	G>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs753668226 RCV001217054	1058	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP
RCV003160328 RCV001044665 rs1224696199	1064	C>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001917513 rs2139512774	1065	K>N	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1286858047 RCV001950630	1065	K>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs1798276045 RCV001987292	1072	A>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000652817 RCV000429991 CA7176854 RCV003168619 rs61755576 RCV000607638	1079	T>A	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1470270507 RCV001884985	1082	A>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs150752193 RCV000652827 CA7176852 RCV001174921 RCV002325312	1084	T>A	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1409054252 RCV000799068	1089	P>Q	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1210330980 RCV001889048	1091	T>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_075692 rs1442962879 RCV000809487	1092	P>L	Noonan syndrome 9 NS9; uncertain significance [ClinVar, UniProt]	Yes	ClinVar UniProt TOPMed dbSNP gnomAD
RCV003160252 RCV003396638 RCV001039408 rs755233845	1093	P>S	Noonan syndrome 9 SOS2-related condition [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001069163 rs141214900	1097	S>P	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1419463844 RCV002265003 RCV002468182 RCV001175021	1101	S>N	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV002223346 rs1317870927	1101	S>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV002324226 RCV002046661 rs756103351	1112	C>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs376113934 RCV002322219 RCV001312910	1119	A>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000695712 rs1566815476	1128	S>C	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002031220 rs2139472231	1132	S>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs375478974 RCV002458295 RCV000703310	1135	S>G	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs372874114 RCV003353235 RCV001233162	1136	L>S	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1375287247 RCV001912375 RCV003166986	1148	P>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs777487865 RCV001239671	1148	P>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP
RCV002300641 RCV001988532 rs764483791	1166	M>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001898537 rs756607027	1168	S>P	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
CA7176765 RCV002456250 rs143166880 RCV000549002	1168	S>Y	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002451466 RCV001213784 rs935249167	1174	A>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs774571340 RCV001919567	1175	I>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1566814839 COSM1629310 RCV000709911 COSM1629311 RCV001766571 RCV002532898	1177	P>L	Noonan syndrome 9 liver Noonan syndrome [ClinVar, Cosmic]	Yes	cosmic curated ClinVar Ensembl dbSNP
RCV001797104 RCV003235287 CA7176753 RCV002456251 rs765097073 RCV001813500 RCV000527284	1183	P>missing	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV001901816 RCV002458772 rs139401491	1183	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC dbSNP gnomAD
rs778368766 RCV001221103	1185	V>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000800706 rs1594951526	1187	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs934357386 RCV001929825	1191	V>F	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001305244 rs934357386	1191	V>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV000652813 RCV002455928 RCV000486673 rs753151750 CA7176746	1195	A>V	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2139465314 RCV001997200	1198	G>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs555945363 RCV001813601 RCV003365423 RCV001532949 RCV001514361	1201	H>R	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000877280 RCV002454049 rs113660113	1205	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1883398374 RCV001965619	1207	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs772043913 RCV001902905	1214	D>V	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002547485 rs773877975 RCV001348666	1215	T>S	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001943380 rs1883396353	1224	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001866914 rs769329817 RCV002545825	1225	E>Q	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002186180 rs748607274	1227	F>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002346278 RCV002047869 rs201756168	1233	N>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1403796339 RCV001902610	1236	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs752525400 RCV002282622 RCV001947466 RCV003375391	1245	D>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001061198 rs1883393016	1247	D>E	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000613957 rs138133010 RCV003392403 RCV000537448 CA7176717 RCV001813501	1248	W>C	Noonan syndrome 9 Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001088680 RCV001251288 RCV000515109 CA7176713 rs775506222	1252	I>missing	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs762593451 RCV001236571	1253	S>T	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs772587016 CA260704065 RCV000652820	1254	T>R	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000652815 RCV003392500 rs150393358 RCV001805782 CA7176709	1257	N>D	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001901914 RCV002343918 rs1344396759	1258	S>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1555367637 CA389637807 RCV000526496	1261	T>P	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs780772018 RCV001975565 RCV002344142	1261	T>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2139464111 RCV001932963	1262	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001264556 rs569343105 RCV001365570 RCV002541618	1263	P>R	Noonan syndrome 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1053118797 RCV001921336	1265	T>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs2139464050 RCV002039403	1265	T>I	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001931222 rs2139464021	1266	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV003170074 rs1005498417 COSM955991 RCV001960465 COSM955992 RCV003120767	1272	R>C	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV002032246 rs200104745 RCV002352773	1272	R>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1005498417 RCV001922852	1272	R>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001243964 rs58365465 RCV002357039	1273	R>Q	Noonan syndrome 9 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs371619971 CA7176697 RCV003591760 RCV000612167	1275	Y>C	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs146802994 RCV001683588 CA7176695 RCV001584349 RCV000541220 RCV002367952	1277	L>P	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376158218 RCV001219605	1282	N>S	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP TOPMed dbSNP gnomAD
RCV003166742 RCV001306475 rs761580972	1290	P>A	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002026871 rs1244881868	1290	P>H	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs759124324 RCV001322577 RCV002377404	1301	H>R	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1214781595 RCV001875761	1310	Y>*	Noonan syndrome 9 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV002357153 RCV001322075 rs865922330	1315	S>L	Noonan syndrome 9 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs140995728 RCV001175493 CA7176682 RCV002358610 RCV000555942 RCV001644664	1318	P>S	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001373158 rs2139462748 RCV003442875	1319	L>F	Noonan syndrome 9 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs950322034 COSM3936537 COSM3936536 RCV001892700	1320	Y>H	Noonan syndrome 9 oesophagus [ClinVar, Cosmic]	Yes	cosmic curated ClinVar TOPMed dbSNP
CA10603238 rs886041929 RCV001859540 RCV000292130	1323	P>L	Noonan syndrome 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001969377 rs146527239	1329	E>D	Noonan syndrome 9 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1441953271	4	A>S		No	TOPMed gnomAD
rs976486198	5	P>A		No	TOPMed gnomAD
rs755419078	7	P>R		No	ExAC TOPMed gnomAD
rs1887536522	7	P>S		No	TOPMed
rs751814626	9	E>K		No	ExAC gnomAD
rs751814626	9	E>Q		No	ExAC gnomAD
TCGA novel	11	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1221101657	11	F>L		No	gnomAD
rs201495842	12	S>C		No	1000Genomes
rs758896322	13	E>G		No	ExAC gnomAD
rs1887535959 TCGA novel	13	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1364159457	16	S>T		No	TOPMed gnomAD
rs750929787	17	P>A		No	ExAC gnomAD
rs1015229594	17	P>L		No	TOPMed gnomAD
rs1015229594	17	P>Q		No	TOPMed gnomAD
rs1015229594	17	P>R		No	TOPMed gnomAD
rs1436943286	20	R>Q		No	TOPMed
TCGA novel	20	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1003888969	23	L>F		No	1000Genomes TOPMed gnomAD
rs764249804	24	V>D		No	ExAC gnomAD
rs1453155265	26	A>T		No	gnomAD
rs1887533896	28	R>Q		No	TOPMed
rs758144954	30	V>F		No	ExAC gnomAD
rs2139796369	31	Q>R		No	Ensembl
rs1461064079	32	E>K		No	gnomAD
rs1276710063	36	P>L		No	gnomAD
rs370550495	37	T>I		No	ESP ExAC TOPMed gnomAD
rs1886596399	37	T>S		No	TOPMed
rs1249312381	41	N>S		No	TOPMed
rs1886595959	43	E>V		No	Ensembl
rs1886595894	45	L>F		No	TOPMed
rs1162838729	46	Y>C		No	TOPMed gnomAD
rs556194352	48	I>T		No	1000Genomes TOPMed
COSM3814859 COSM3814858	49	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775028449	50	E>K		No	ExAC gnomAD
rs771695525	52	I>S		No	ExAC gnomAD
rs1886595184	54	Q>R		No	Ensembl
rs1886595109	55	L>V		No	Ensembl
TCGA novel	60	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759897386	60	C>W		No	ExAC gnomAD
rs1402287989	61	M>I		No	gnomAD
rs1886594420	66	T>I		No	gnomAD
rs1418008191	67	V>L		No	gnomAD
rs1382054541	68	Q>E		No	gnomAD
rs1179049396	70	V>I		No	gnomAD
rs1179049396	70	V>L		No	gnomAD
COSM3793718 COSM3793719 rs1566478915	71	E>Q	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs1886471144	72	E>A		No	Ensembl
rs1886471225	72	E>Q		No	Ensembl
rs1475534419	73	R>*		No	TOPMed
rs565261873	77	T>I		No	1000Genomes ExAC TOPMed gnomAD
rs748602123	80	H>R		No	ExAC gnomAD
rs1886470354	81	P>L		No	Ensembl
rs1886469855	85	W>*		No	Ensembl
rs780385201	89	D>G		No	ExAC gnomAD
rs1566477467	91	Q>L		No	Ensembl
rs1229207865	92	S>T		No	gnomAD
rs1886468962	92	S>Y		No	TOPMed gnomAD
rs753611130	94	I>M		No	ExAC TOPMed gnomAD
rs777574895	97	R>P		No	ExAC TOPMed gnomAD
rs112221991	100	R>G		No	TOPMed
TCGA novel	100	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1298793905	100	R>K		No	gnomAD
rs752560999	104	L>*		No	ExAC
rs1886468088	106	P>L		No	TOPMed
rs754449669	108	D>E		No	ExAC TOPMed gnomAD
rs2139779313	121	K>E		No	Ensembl
rs777300218	125	H>R		No	ExAC TOPMed gnomAD
rs1309867315	125	H>Y		No	gnomAD
rs775777617	128	L>V		No	ExAC gnomAD
rs746148215	130	I>V		No	ExAC TOPMed
rs1401319142	131	V>L		No	gnomAD
rs1464665792	133	V>I		No	gnomAD
rs1886426162	135	E>Q		No	TOPMed
rs1021775891	140	D>G		No	Ensembl
COSM4816569 COSM4816568	140	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1493272 COSM1493271 rs1378958999	141	I>T	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1886425451	144	L>*		No	TOPMed
rs1886425211	146	G>S		No	TOPMed
rs1435992315	147	N>D		No	TOPMed gnomAD
TCGA novel	152	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1440645330	152	I>T		No	gnomAD
rs778339464	153	R>W		No	Ensembl
rs528048319 COSM4051020 COSM4051021	154	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD NCI-TCGA Cosmic
rs1257223875	155	Y>C		No	gnomAD
rs1886424066	156	E>D		No	TOPMed
rs1210780288	158	S>P		No	gnomAD
rs1283726128	167	C>F		No	gnomAD
rs1283726128 RCV001761092	167	C>Y		No	ClinVar dbSNP gnomAD
rs756399613	168	A>E		No	ExAC TOPMed gnomAD
COSM2198411 COSM2198410 rs756399613	168	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1886422672	169	D>N		No	gnomAD
rs1351192565	171	V>I		No	gnomAD
COSM3814856 COSM3814857	173	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1336823806	175	M>V		No	Ensembl
TCGA novel	177	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1313632636	177	D>G		No	gnomAD
rs1313632636	177	D>V		No	gnomAD
rs770997822 RCV000681116	179	D>G		No	ClinVar ExAC dbSNP gnomAD
rs1566471997	180	D>G		No	TOPMed
rs776470985 COSM4942295 COSM4942296	181	I>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA Cosmic NCI-TCGA
rs149487643	182	G>D		No	ESP ExAC TOPMed gnomAD
rs553395791	184	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs373514826	186	L>R		No	Ensembl
rs745312007	189	D>E		No	ExAC TOPMed gnomAD
rs771634205	189	D>V		No	ExAC gnomAD
rs778631157	190	E>D		No	ExAC gnomAD
rs72681869 CA7177498 RCV000272613	191	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778331002	192	S>R		No	ExAC gnomAD
rs1886005023	193	S>C		No	Ensembl
rs1054141282	194	S>C		No	TOPMed
rs1595007024	195	G>D		No	Ensembl
rs1886004857	195	G>S		No	Ensembl
rs1377459551	196	E>Q		No	TOPMed gnomAD
rs113460230	197	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1260861939	197	L>V		No	Ensembl
rs759671658	199	Y>C		No	ExAC gnomAD
rs1886004115	200	Y>H		No	Ensembl
rs1886003731	202	L>V		No	Ensembl
rs763214818 RCV001773125	205	T>I		No	ClinVar ExAC dbSNP gnomAD
rs763214818	205	T>S		No	ExAC gnomAD
rs773395515	207	I>F		No	ExAC gnomAD
rs147109760	207	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1420968803	211	R>G		No	gnomAD
rs147883125	212	Q>K		No	ESP
rs1251376651	219	M>I		No	gnomAD
rs770542958	222	K>T		No	ExAC gnomAD
COSM956030 COSM956029 rs1886001996	225	R>*	Variant assessed as Somatic; HIGH impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1886002059	225	R>Q		No	Ensembl
rs1886002059 RCV001174983	225	R>QKKDSIYGN*		No	ClinVar dbSNP
rs777523051	227	A>S		No	ExAC gnomAD
rs777523051	227	A>T		No	ExAC gnomAD
COSM3968827 COSM3968826	228	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1886001119	228	F>S		No	TOPMed
rs1886001177	228	F>V		No	gnomAD
rs746666060	230	S>C		No	gnomAD
rs963071220	231	D>G		No	TOPMed
TCGA novel	232	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs145848231	234	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs766413225	235	F>L		No	ExAC TOPMed gnomAD
rs1197421823	236	K>N		No	TOPMed gnomAD
rs939864247	236	K>R		No	Ensembl
rs2139733717	237	P>H		No	Ensembl
rs758433120	237	P>T		No	ExAC gnomAD
rs963844874	239	D>G		No	TOPMed gnomAD
rs781461999	239	D>N		No	ExAC gnomAD
rs373852615	240	I>M		No	ESP ExAC TOPMed gnomAD
COSM956025 COSM956026 rs1376008170	242	K>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1435988827	242	K>T		No	gnomAD
rs1157906294	243	I>V		No	gnomAD
rs2139710055	250	I>T		No	Ensembl
COSM956023 COSM956024	252	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	254	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1885778521	255	V>G		No	Ensembl
rs1266763939	255	V>L		No	TOPMed
rs780562244	258	L>S		No	ExAC gnomAD
rs1595001728	258	L>V		No	TOPMed
rs1381912034	263	D>H		No	gnomAD
COSM1300638 COSM1300639	263	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM956021 COSM956022	264	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM5812803 COSM5812802	264	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	264	T>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1885777840	265	V>G*		No	Ensembl
rs758486167	265	V>L		No	ExAC gnomAD
rs797045167 COSM3496163 COSM3496162	267	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1885777339	268	T>A		No	TOPMed
rs1885777114	269	D>G		No	TOPMed
rs765298964	269	D>H		No	ExAC
rs767256645	272	S>R		No	ExAC gnomAD
rs939707624	273	P>A		No	TOPMed gnomAD
rs1215074564	273	P>L		No	gnomAD
rs939707624	273	P>S		No	TOPMed gnomAD
rs774175096	274	H>Y		No	ExAC gnomAD
rs1885776370	275	P>R		No	Ensembl
COSM3496160 COSM3496161	275	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766356665	279	S>T		No	ExAC gnomAD
rs530007285	280	C>F		No	1000Genomes ExAC TOPMed gnomAD
COSM296959 COSM296960	288	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	292	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768288850	293	Y>C		No	ExAC gnomAD
rs1191120745	298	Q>K		No	gnomAD
rs1035038219	303	P>L		No	gnomAD
rs1035038219	303	P>Q		No	gnomAD
rs1566840605	303	P>S		No	gnomAD
rs1468661014	304	E>G		No	gnomAD
rs1885704047	304	E>Q		No	Ensembl
rs760242353	306	H>R		No	ExAC TOPMed gnomAD
rs376799463	307	E>K		No	ESP gnomAD
rs200813181	307	E>V		No	1000Genomes
rs772402909	310	N>D		No	ExAC gnomAD
rs866489029	311	K>*		No	Ensembl
rs1885703188	311	K>N		No	Ensembl
rs2139702224	311	K>T		No	Ensembl
rs779352273	312	L>V		No	ExAC TOPMed gnomAD
rs1885703028	313	M>I		No	gnomAD
rs1305398190	314	A>G		No	gnomAD
COSM287166 COSM287167	315	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs980397739	317	A>V		No	Ensembl
rs770936751	318	V>F		No	ExAC gnomAD
rs1186781976	319	A>T		No	gnomAD
rs777858898	320	L>V		No	ExAC gnomAD
rs972027322	321	H>P		No	TOPMed
rs972027322	321	H>R		No	TOPMed
rs151274423	323	Q>H		No	1000Genomes gnomAD
RCV000788764 rs1594993511	325	I>F		No	ClinVar Ensembl dbSNP
rs745592797	327	D>V		No	ExAC gnomAD
rs1359146930	328	G>D		No	TOPMed gnomAD
rs113568592	329	F>L		No	Ensembl
rs1415081233	333	V>A		No	gnomAD
rs778569253 RCV001765697	333	V>I		No	ClinVar ExAC dbSNP gnomAD
rs1566837949	336	V>I		No	gnomAD
rs763698634	339	R>C		No	ExAC gnomAD
COSM190660 COSM190659 rs755580745	339	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA gnomAD
rs1487933858	341	M>L		No	gnomAD
rs1885463506	341	M>T		No	gnomAD
rs1027626067	343	V>L		No	gnomAD
rs1027626067	343	V>M		No	gnomAD
TCGA novel	344	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs995837589	345	V>M		No	Ensembl
TCGA novel	346	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs898413327	346	Y>H		No	TOPMed gnomAD
rs1486068977	346	Y>S		No	gnomAD
rs1885462833	348	C>Y		No	TOPMed gnomAD
rs1397866048	350	H>D		No	TOPMed gnomAD
rs1885462599	350	H>Q		No	TOPMed
rs1299925470	350	H>R		No	TOPMed gnomAD
rs111285975	352	F>L		No	Ensembl
rs1166682793	354	L>V		No	TOPMed
rs1885462206 RCV001174754	356	K>missing		No	ClinVar dbSNP
rs1885010485	361	C>F		No	Ensembl
rs1464701323	361	C>S		No	gnomAD
rs1885010425	362	S>N		No	TOPMed
rs1885010352	364	E>G		No	Ensembl
rs2139636244 RCV001765396	365	Q>P		No	ClinVar Ensembl dbSNP
rs1462458787	367	D>E		No	gnomAD
rs972207015	367	D>G		No	Ensembl
rs1169616693	367	D>N		No	gnomAD
rs1885009988	369	E>G		No	Ensembl
rs1885009906	370	C>F		No	Ensembl
COSM956020 COSM956019	370	C>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	371	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1885009611	375	I>M		No	Ensembl
rs1376947791	375	I>V		No	gnomAD
rs763181660	377	A>G		No	ExAC gnomAD
rs1285007625	378	L>V		No	TOPMed
rs765776650	381	L>V		No	ExAC gnomAD
rs1436201414	383	G>S		No	gnomAD
rs1381707459	384	S>G		No	TOPMed
rs762406703	385	M>I		No	ExAC gnomAD
rs1251110606	385	M>T		No	gnomAD
rs942106224	386	D>E		No	Ensembl
COSM5606079 COSM5606078	387	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768835893	390	K>R		No	ExAC gnomAD
rs909240238	391	Q>H		No	TOPMed gnomAD
rs1885008197	393	S>P		No	TOPMed
rs144332746	394	P>R		No	1000Genomes ExAC TOPMed gnomAD
COSM3731139 COSM3731138 rs1885008020	396	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
COSM4051016 COSM4051017 rs770781571	396	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs770781571	396	R>L		No	ExAC TOPMed gnomAD
rs777771444	397	R>*		No	ExAC TOPMed gnomAD
rs1885007609	397	R>Q		No	TOPMed
rs1885007465	399	G>R		No	TOPMed
rs1884945403	400	D>E		No	TOPMed
rs1159351313	401	P>S		No	gnomAD
rs1159351313	401	P>T		No	gnomAD
rs139143221	402	V>A		No	ESP ExAC TOPMed gnomAD
rs1472537130	402	V>I		No	gnomAD
rs1884944730	403	C>*		No	Ensembl
rs748121445	404	P>A		No	ExAC gnomAD
rs748121445	404	P>S		No	ExAC gnomAD
rs1263023083	406	Y>C		No	gnomAD
rs1594980811	407	S>G		No	Ensembl
rs1884943948	408	H>Q		No	TOPMed
rs1884944019	408	H>Y		No	Ensembl
rs1214098506	410	L>I		No	gnomAD
rs1884943725	412	S>N		No	TOPMed
rs1182163460	417	I>F		No	TOPMed gnomAD
rs1182163460	417	I>V		No	TOPMed gnomAD
rs1333570193	418	K>R		No	gnomAD
rs199998698	419	K>R		No	1000Genomes ExAC TOPMed gnomAD
COSM6044627 COSM6044626	420	M>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	420	M>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1234537423 COSM956017 COSM956018	420	M>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs569419230	422	E>G		No	1000Genomes ExAC gnomAD
rs1319274502	424	Q>H		No	gnomAD
TCGA novel	426	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs764636527	427	I>N		No	ExAC gnomAD
rs1486131664	427	I>V		No	Ensembl
rs146283711	428	D>Y		No	ESP ExAC TOPMed gnomAD
TCGA novel	431	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884942246	432	G>D		No	Ensembl
rs759722623	435	I>T		No	ExAC gnomAD
rs2139629847	435	I>V		No	Ensembl
rs2139629824	436	G>A		No	Ensembl
rs1395334504	437	Q>H		No	TOPMed gnomAD
rs2139629814	437	Q>R		No	Ensembl
rs2139629782	438	C>W		No	Ensembl
TCGA novel	439	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1476623779	439	C>Y		No	gnomAD
rs1046033964	443	I>L		No	gnomAD
rs1884941507	445	E>*		No	TOPMed
rs2139629695	445	E>D		No	Ensembl
rs1884941507	445	E>Q		No	TOPMed
rs2139629684	446	G>V		No	Ensembl
VAR_075690 rs768547025	449	T>A		No	UniProt ExAC TOPMed dbSNP gnomAD
rs1334901413	450	R>T		No	gnomAD
COSM1369948 rs1272261716 COSM1369949	452	G>S	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2139629579	454	K>I		No	Ensembl
COSM4847840 rs1232625690 COSM4847841	456	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1232625690	456	E>Q		No	TOPMed gnomAD
rs1884940344	457	R>Q		No	Ensembl
rs1884940423	457	R>W		No	gnomAD
rs766792092	458	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs757707152	466	M>I		No	ExAC gnomAD
rs778274098	467	I>M		No	ExAC gnomAD
TCGA novel	467	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	467	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1208920983	468	S>R		No	gnomAD
rs1353990634	471	P>A		No	gnomAD
rs1884939411	472	N>K		No	TOPMed
rs1169005044	472	N>Y		No	gnomAD
rs1884939187	474	G>S		No	Ensembl
rs753225607	475	Q>H		No	ExAC TOPMed gnomAD
COSM469999 COSM469998	476	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	478	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884938694	480	G>V		No	TOPMed
rs1486014891	482	S>G		No	TOPMed
rs1195086721	482	S>N		No	TOPMed gnomAD
rs1884937608	494	M>T		No	TOPMed
rs1884937684	494	M>V		No	gnomAD
rs763158161	496	K>Q		No	ExAC gnomAD
TCGA novel	498	Q>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM263820 COSM263819	499	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1273541394	500	C>F		No	TOPMed gnomAD
rs1273541394	500	C>S		No	TOPMed gnomAD
rs763932554	503	E>A		No	ExAC TOPMed gnomAD
rs763932554	503	E>V		No	ExAC TOPMed gnomAD
rs1884937142	504	D>A		No	TOPMed gnomAD
rs1884937142 RCV001806982	504	D>G		No	ClinVar TOPMed dbSNP gnomAD
rs1884936986	506	C>R		No	TOPMed
rs1304203757	506	C>W		No	gnomAD
COSM553155 COSM553154	507	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs8010237	508	H>D		No	gnomAD
rs1372822403	508	H>R		No	TOPMed gnomAD
rs8010237 VAR_054328	508	H>Y		No	UniProt dbSNP gnomAD
rs1344796129	513	E>Q		No	TOPMed gnomAD
rs548114426	517	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA
RCV000681081 rs367970301	517	K>R		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs771506975	518	D>E		No	ExAC gnomAD
rs916595962	518	D>G		No	TOPMed
rs531533214	522	I>M		No	1000Genomes ExAC gnomAD
rs745316492	522	I>V		No	ExAC gnomAD
rs1566831275	523	I>M		No	Ensembl
rs1884934724	523	I>T		No	TOPMed
rs1884934518 COSM1707314 COSM1707315	525	A>S	skin [Cosmic]	No	cosmic curated TOPMed
rs770770054	527	K>E		No	ExAC gnomAD
rs1433428863	527	K>R		No	gnomAD
rs1433428863	527	K>T		No	gnomAD
rs1174978337	528	S>C		No	gnomAD
rs557498497	528	S>T		No	gnomAD
TCGA novel	530	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	531	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756469497	532	K>*		No	ExAC TOPMed gnomAD
rs756469497	532	K>E		No	ExAC TOPMed gnomAD
TCGA novel	533	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs912154698	534	N>K		No	gnomAD
rs1282240540	534	N>S		No	gnomAD
rs1884932811	535	W>*		No	TOPMed
rs1884932746	536	M>I		No	Ensembl
rs765427688	538	A>T		No	TOPMed gnomAD
rs1225606570	541	S>P		No	gnomAD
rs143491566	545	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1413502117	546	S>G		No	gnomAD
rs1377741076	547	T>A		No	gnomAD
rs202201300	548	L>I		No	ExAC TOPMed gnomAD
rs1566831234	549	D>H		No	Ensembl
COSM5009252 COSM5009251 rs750617087	550	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1420408221	551	M>I		No	gnomAD
TCGA novel	552	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884931292	552	L>I		No	Ensembl
TCGA novel	553	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1259461274	557	L>S		No	gnomAD
rs1884931003	558	K>E		No	TOPMed
rs368255404	558	K>R		No	ESP ExAC TOPMed gnomAD
TCGA novel	559	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs537761776	561	N>T		No	TOPMed gnomAD
rs1884930737	564	P>L		No	Ensembl
rs767419669	566	R>S		No	ExAC TOPMed gnomAD
rs1884930530	569	S>G		No	gnomAD
rs770543029	571	E>K		No	ExAC gnomAD
rs770543029	571	E>Q		No	ExAC gnomAD
COSM171139 rs776758961 COSM171140	574	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs967513997	574	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM956013 COSM956014	574	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1383231311	577	V>I		No	gnomAD
rs1383231311	577	V>L		No	gnomAD
rs1884929703	579	D>E		No	TOPMed
TCGA novel	580	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1455053497	581	E>K		No	gnomAD
rs1884929400	584	I>M		No	TOPMed
rs781407108	584	I>T		No	ExAC gnomAD
COSM3793717 COSM3793716	587	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1420023263	588	D>N		No	gnomAD
rs1188151400	589	N>S		No	gnomAD
RCV001765206 rs2139628062	591	Q>*		No	ClinVar Ensembl dbSNP
rs1884928904	591	Q>H		No	Ensembl
rs1566831190	591	Q>P		No	Ensembl
rs1373935531	595	G>A		No	TOPMed gnomAD
rs1373935531	595	G>D		No	TOPMed gnomAD
rs1011754298	598	I>V		No	TOPMed
rs769210427	604	V>I		No	ExAC TOPMed gnomAD
rs1465522007	606	K>E		No	gnomAD
rs915405052	614	H>P		No	Ensembl
rs1337021769	615	M>R		No	TOPMed gnomAD
rs1337021769	615	M>T		No	TOPMed gnomAD
rs1478712623	616	Y>C		No	gnomAD
rs1884927782	617	A>V		No	TOPMed
rs1884894248	619	P>L		No	gnomAD
rs1884894170	620	N>D		No	TOPMed
COSM5382291 rs149623137 COSM5382292	623	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM4729106 COSM4729107	624	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	627	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	627	T>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1430220795	629	Y>*		No	gnomAD
COSM3496157 COSM3496156	629	Y>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM2198341 rs1394217728 COSM2198340	630	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1431680680	631	S>P		No	gnomAD
RCV001269155 rs373142212	632	F>C		No	ClinVar ESP dbSNP
TCGA novel	637	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884893031	639	L>V		No	Ensembl
rs766358658	640	S>G		No	ExAC
rs1884892463	645	R>Q		No	TOPMed gnomAD
rs1181182642 COSM956012 COSM956011	645	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1884846832	646	F>Y		No	TOPMed
COSM4947123 COSM76552	647	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1884846766	649	P>S		No	gnomAD
rs1354749674	650	E>Q		No	gnomAD
rs1263890923	653	P>S		No	TOPMed
rs753546556	654	T>I		No	ExAC gnomAD
rs753546556	654	T>S		No	ExAC gnomAD
rs1884846243	655	D>A		No	TOPMed
rs763672521	655	D>E		No	ExAC gnomAD
rs1884846243	655	D>G		No	TOPMed
rs1884845927	656	A>G		No	Ensembl
rs760318590	656	A>S		No	ExAC TOPMed gnomAD
rs760318590	656	A>T		No	ExAC TOPMed gnomAD
rs1884845779	657	D>E		No	gnomAD
rs1184836351	657	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1264838760	660	A>T		No	gnomAD
rs1160004493	660	A>V		No	gnomAD
rs372085367	661	I>T		No	ESP TOPMed gnomAD
COSM433103 COSM433104	662	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM698452 COSM698453	663	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1015485607	663	K>I		No	TOPMed
rs1015485607	663	K>R		No	TOPMed
rs1884844822	664	G>D		No	Ensembl
rs1884844881	664	G>R		No	Ensembl
rs1473353739	665	E>D		No	TOPMed gnomAD
rs1190667038	665	E>K		No	gnomAD
rs1191421731	668	I>V		No	gnomAD
rs1212774235	669	S>G		No	gnomAD
rs1884844312	669	S>N		No	TOPMed gnomAD
rs577622341	669	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs1320147354	672	L>R		No	gnomAD
rs1001909268 COSM956009 COSM956010	676	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM1477588 rs1229932733 COSM1477589	676	R>H	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1356917229	677	K>N		No	TOPMed gnomAD
rs1010251171	678	E>Q		No	Ensembl
rs759817993	689	N>S		No	Ensembl
TCGA novel	691	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1278339374	694	W>C		No	gnomAD
rs1884713798	695	V>A		No	TOPMed
rs763597432	695	V>F		No	ExAC TOPMed gnomAD
rs763597432	695	V>I		No	ExAC TOPMed gnomAD
rs1371664428	696	E>D		No	TOPMed gnomAD
rs1884713613	698	H>D		No	TOPMed
rs765430931	700	Y>C		No	ExAC gnomAD
rs1057518079	705	D>H		No	TOPMed gnomAD
rs1049340921	710	E>G		No	TOPMed
rs768829374	710	E>K		No	ExAC TOPMed gnomAD
rs1036199394	711	R>T		No	Ensembl
rs770726372	716	I>L		No	ExAC gnomAD
rs1187043021	718	S>G		No	gnomAD
rs1258039800	719	V>I		No	gnomAD
rs1884617868	721	G>E		No	Ensembl
rs748062346	724	M>I		No	ExAC gnomAD
rs1318107059	724	M>V		No	TOPMed gnomAD
rs1388691545	726	K>E		No	gnomAD
rs768174418	730	S>L		No	ExAC gnomAD
rs1165228227	731	I>T		No	gnomAD
rs369069672	732	A>T		No	ESP
rs1388598675	734	I>S		No	gnomAD
rs1388598675	734	I>T		No	gnomAD
rs1439173200	734	I>V		No	TOPMed gnomAD
rs1465479073	735	I>V		No	gnomAD
rs746305405	736	R>K		No	ExAC TOPMed gnomAD
rs779410331	738	K>R		No	ExAC gnomAD
rs752871832 RCV000486378 CA7177087	743	A>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001193660 rs1884613778	745	G>missing		No	ClinVar dbSNP
rs1000946943	745	G>E		No	TOPMed
rs2139595351	745	G>R		No	Ensembl
rs955430620	746	V>I		No	Ensembl
rs773047395	748	H>P		No	ExAC TOPMed gnomAD
rs773047395	748	H>R		No	ExAC TOPMed gnomAD
rs1422413434	750	I>L		No	gnomAD
RCV002252504 rs2139595245	752	F>L		No	ClinVar Ensembl dbSNP
rs1294013242	753	E>G		No	gnomAD
TCGA novel	754	S>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs768066838	755	P>A		No	ExAC gnomAD
rs868005783	755	P>R		No	TOPMed gnomAD
rs775139330	757	P>A		No	ExAC TOPMed gnomAD
rs775139330	757	P>T		No	ExAC TOPMed gnomAD
rs1884614226	758	P>L		No	gnomAD
rs771910628	759	I>M		No	ExAC gnomAD
rs61755577	759	I>T		No	TOPMed gnomAD
rs1884613680	760	E>Q		No	gnomAD
rs745497052	761	W>R		No	ExAC gnomAD
COSM6140489 COSM6140488	762	H>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1884613486	762	H>R		No	gnomAD
rs1195701121	764	S>R		No	gnomAD
rs771378934	766	P>A		No	ExAC gnomAD
rs749776734	766	P>L		No	ExAC TOPMed gnomAD
rs1566827574	767	G>E		No	Ensembl
rs886041953 RCV000308084 CA10603242	767	G>R		No	ClinGen ClinVar Ensembl dbSNP
rs1884612644	771	T>R		No	TOPMed gnomAD
rs745868017	775	M>T		No	Ensembl
rs1332283721	775	M>V		No	gnomAD
rs1884612088	776	T>I		No	TOPMed
rs151074097	777	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	779	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884611879	780	I>V		No	Ensembl
rs753725530	782	I>T		No	ExAC TOPMed gnomAD
COSM190651 rs775192786 COSM190650	784	R>H	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs896206238	790	E>D		No	Ensembl
rs774094426	790	E>G		No	ExAC
rs1181118975	792	D>A		No	gnomAD
COSM4818467 COSM4818468	793	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771210637	793	L>H		No	ExAC TOPMed gnomAD
rs771210637	793	L>P		No	ExAC TOPMed gnomAD
rs1884441215	796	K>E		No	TOPMed gnomAD
TCGA novel	798	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs762498394	798	Q>P		No	ExAC gnomAD
rs372783509	802	L>V		No	ESP ExAC gnomAD
rs1341370097	803	V>I		No	gnomAD
rs1433057021	804	G>E		No	gnomAD
rs777065825	804	G>R		No	ExAC gnomAD
rs768729855	805	S>G		No	ExAC gnomAD
TCGA novel	807	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884440080	809	K>N		No	gnomAD
rs1048519981	810	E>D		No	TOPMed gnomAD
COSM956008 COSM956007	810	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747160186	810	E>V		No	ExAC TOPMed gnomAD
rs1677666216	811	D>H		No	TOPMed
rs1884439818	812	K>R		No	TOPMed
rs779987434	814	I>R		No	ExAC TOPMed gnomAD
COSM956005 COSM956006	815	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1272374280	822	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1165427910	823	I>T		No	gnomAD
rs1473322050 COSM956003 COSM956004	824	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1884438948	825	H>Q		No	gnomAD
rs758698541	825	H>R		No	ExAC gnomAD
rs1884438794	829	L>F		No	Ensembl
rs1463238437	831	L>I		No	gnomAD
rs1273660352	836	C>F		No	gnomAD
rs1469543967	837	I>L		No	TOPMed gnomAD
rs1202694189	837	I>T		No	gnomAD
rs2139576953	838	V>M		No	Ensembl
rs1884433238	840	A>G		No	Ensembl
RCV001771261 rs2139576928	842	N>S		No	ClinVar Ensembl dbSNP
rs1298605087	843	F>L		No	gnomAD
rs1884432979	845	E>A		No	gnomAD
TCGA novel	845	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884432798	847	V>M		No	Ensembl
rs1365550921	848	A>T		No	gnomAD
rs746127976	849	V>I		No	ExAC gnomAD
rs746127976	849	V>L		No	ExAC gnomAD
rs778941379	854	I>L		No	ExAC TOPMed gnomAD
rs1431999988	854	I>T		No	TOPMed gnomAD
rs778941379	854	I>V		No	ExAC TOPMed gnomAD
TCGA novel	857	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1884431953	858	Q>K		No	Ensembl
COSM956001 COSM956002	858	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs748020387	859	V>F		No	ExAC gnomAD
rs748020387	859	V>L		No	ExAC gnomAD
rs1028428867	860	F>V		No	TOPMed
rs1413457086	865	N>D		No	gnomAD
rs373143128	869	V>L		No	ESP ExAC TOPMed gnomAD
rs1209710672	873	V>L		No	gnomAD
rs1884430651	874	S>G		No	gnomAD
CA16042957 rs1057518082 RCV000413346	874	S>N		No	ClinGen ClinVar Ensembl dbSNP
rs1884430400	876	V>I		No	gnomAD
rs764413241	881	V>A		No	ExAC gnomAD
rs201582627	881	V>I		No	Ensembl
rs1884430004	883	R>K		No	TOPMed
rs1412106864	885	D>G		No	TOPMed gnomAD
rs772202444	887	T>I		No	ExAC gnomAD
rs773518472	890	A>T		No	ExAC TOPMed gnomAD
rs1416275021	891	L>Q		No	TOPMed gnomAD
rs1884217771	892	Q>K		No	TOPMed
COSM4394196 COSM4394195	893	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	894	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373722925	895	K>R		No	ESP ExAC TOPMed gnomAD
rs1884217505	896	R>K		No	gnomAD
rs1246293566	897	K>R		No	gnomAD
rs1334622859	907	Q>P		No	Ensembl
TCGA novel	911	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	912	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1246299964	912	K>R		No	gnomAD
rs376313150	914	L>Q		No	ESP ExAC TOPMed gnomAD
rs1884216307	915	V>G		No	TOPMed
rs777335910	916	K>E		No	ExAC gnomAD
rs1222892955	917	L>V		No	TOPMed
rs753057838	921	N>S		No	ExAC TOPMed gnomAD
rs949682517	922	P>Q		No	Ensembl
rs1884215649	923	P>L		No	TOPMed
rs917537969	923	P>S		No	TOPMed gnomAD
rs1456241424	924	C>G		No	gnomAD
rs1884215295	927	F>V		No	Ensembl
COSM1640096 COSM1640095 rs1347298671	928	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1884215110	928	F>L		No	gnomAD
rs1435439755	929	G>V		No	gnomAD
rs1347298671	929	G>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs369718243	930	I>M		No	ESP ExAC TOPMed gnomAD
rs1884167862	930	I>V		No	gnomAD
rs1482259721	933	T>K		No	gnomAD
rs1594964980	936	L>M		No	Ensembl
rs1884167321	938	T>N		No	Ensembl
rs2139551069	938	T>P		No	Ensembl
rs1197202356	939	E>K		No	gnomAD
rs755319443	945	F>L		No	ExAC gnomAD
COSM267481 COSM267482 rs532833599	946	L>F	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766926555	948	K>E		No	ExAC gnomAD
TCGA novel	948	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs758960743 RCV001255039	948	K>R		No	ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	949	K>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1884166099	951	K>R		No	TOPMed gnomAD
rs1884165845	952	D>G		No	TOPMed gnomAD
rs200387871	952	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1309579499	953	L>V		No	gnomAD
COSM1477586 COSM1477587	955	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1884165444	957	S>G		No	Ensembl
rs759312040	960	R>S		No	ExAC gnomAD
rs1884165167	962	V>I		No	gnomAD
rs1884165167	962	V>L		No	gnomAD
COSM285270 COSM285269	964	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1884165024	964	E>G		No	TOPMed
COSM3496150 COSM3496151	966	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774124555	970	Q>H		No	ExAC gnomAD
COSM3496148 COSM3496149	974	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3987661 COSM3987662	976	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770909499	980	R>W		No	ExAC TOPMed gnomAD
rs1254454616	982	E>D		No	gnomAD
rs1884164396	983	P>T		No	TOPMed gnomAD
rs971098217	985	M>V		No	TOPMed
rs1463534431	988	F>I		No	gnomAD
rs1286257787	988	F>L		No	gnomAD
rs773151184	989	F>L		No	ExAC gnomAD
rs769199372	990	E>*		No	ExAC gnomAD
rs761320331	990	E>A		No	ExAC TOPMed gnomAD
rs1884000065	990	E>D		No	TOPMed
rs769199372	990	E>Q		No	ExAC gnomAD
rs1248478593	991	N>D		No	TOPMed gnomAD
rs986460121	992	L>F		No	TOPMed
TCGA novel	994	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1883999102	997	S>I		No	gnomAD
rs1245944692	998	A>P		No	gnomAD
rs772518224	998	A>V		No	ExAC gnomAD
rs546284255	1001	K>N		No	1000Genomes TOPMed gnomAD
COSM955998 COSM955997	1002	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1230328245	1007	L>F		No	Ensembl
rs1883998302	1010	K>N		No	Ensembl
rs2139528697 RCV002275801	1015	E>K		No	ClinVar Ensembl dbSNP
rs1298512724	1016	P>T		No	TOPMed gnomAD
rs1566820914	1017	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1311191927	1019	C>R		No	gnomAD
rs1883996896	1020	K>I		No	TOPMed gnomAD
rs1401038031	1024	R>Q		No	gnomAD
TCGA novel	1025	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1273822060	1027	R>G		No	TOPMed gnomAD
rs1883842370	1027	R>K		No	Ensembl
COSM4051010 COSM4051011	1029	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs887361070	1030	T>S		No	TOPMed gnomAD
rs1285716210	1031	F>I		No	gnomAD
rs771521679	1031	F>S		No	ExAC gnomAD
rs1456097189	1035	S>Y		No	gnomAD
rs1306516343	1036	P>R		No	gnomAD
COSM3814855 COSM3814854	1037	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777942540	1038	I>L		No	ExAC gnomAD
rs1329009397	1039	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs748384998	1043	G>V		No	ExAC gnomAD
RCV002269587 rs1178530624	1044	R>*		No	ClinVar TOPMed dbSNP gnomAD
rs1883841000	1044	R>Q		No	TOPMed
rs781326623	1045	H>R		No	ExAC gnomAD
COSM698456 COSM698457	1046	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1012247714	1050	G>A		No	gnomAD
COSM4051008 COSM4051009	1050	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM2198289 COSM2198288 rs764908956	1051	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1209560869	1051	T>I		No	gnomAD
rs1883839983	1052	L>S		No	gnomAD
rs1883839880 RCV001290563	1053	R>*		No	ClinVar Ensembl dbSNP
rs898581242	1053	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1454210374	1054	G>D		No	Ensembl
rs368641932	1056	P>L		No	ESP ExAC gnomAD
rs1358902150	1056	P>T		No	gnomAD
rs2139512899	1057	T>A		No	Ensembl
rs1594958845	1057	T>I		No	Ensembl
rs1264055007	1058	P>R		No	TOPMed gnomAD
RCV001771306 rs2139512845	1063	P>T		No	ClinVar Ensembl dbSNP
rs1224696199	1064	C>S		No	TOPMed gnomAD
rs1329000047	1064	C>Y		No	gnomAD
TCGA novel	1068	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1883838352	1069	S>G		No	Ensembl
rs1245809919 COSM4729105 COSM4729104	1070	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs760192938	1070	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs767333305	1071	I>M		No	ExAC gnomAD
rs775131538	1071	I>V		No	ExAC TOPMed gnomAD
rs1446775031	1075	E>G		No	gnomAD
TCGA novel	1076	L>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1883837610	1076	L>V		No	TOPMed
rs759093053	1077	E>V		No	ExAC TOPMed gnomAD
rs1883837470	1078	S>A		No	Ensembl
rs1883837385	1081	S>A		No	Ensembl
rs544075244	1083	P>A		No	TOPMed
rs544075244	1083	P>S		No	TOPMed
rs150752193	1084	T>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1883836875	1085	S>F		No	Ensembl
rs1883836804	1086	P>L		No	TOPMed
rs374654442	1086	P>S		No	ESP ExAC TOPMed
rs1883836729	1087	N>S		No	Ensembl
rs571339365	1088	T>A		No	1000Genomes
rs769868981	1088	T>I		No	ExAC TOPMed gnomAD
rs1409054252	1089	P>L		No	TOPMed gnomAD
rs1210330980	1091	T>A		No	Ensembl
rs1883836188	1091	T>I		No	TOPMed
rs755233845	1093	P>A		No	ExAC TOPMed gnomAD
rs2139512353	1093	P>Q		No	Ensembl
rs747159089	1095	S>C		No	ExAC gnomAD
rs1883835710	1096	A>P		No	TOPMed
rs1883835710	1096	A>T		No	TOPMed
TCGA novel	1098	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373071240	1099	D>H		No	ESP ExAC TOPMed gnomAD
rs373071240	1099	D>N		No	ESP ExAC TOPMed gnomAD
rs1006043313	1100	L>R		No	Ensembl
rs753815599	1102	V>I		No	ExAC TOPMed gnomAD
rs753815599	1102	V>L		No	ExAC TOPMed gnomAD
rs1227392390	1103	F>V		No	gnomAD
rs1883834286	1105	D>E		No	gnomAD
rs1883834408	1105	D>N		No	Ensembl
rs1444619560	1109	N>S		No	gnomAD
rs370277292	1110	S>R		No	ESP ExAC gnomAD
rs2139512120	1111	S>P		No	Ensembl
rs1883833742	1113	G>S		No	TOPMed
rs1883814494	1114	S>C		No	TOPMed
rs1164424709	1116	S>I		No	gnomAD
TCGA novel rs1164424709	1116	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1594958380	1120	P>A		No	TOPMed
rs1594958380	1120	P>S		No	TOPMed
rs868868348	1124	P>A		No	gnomAD
rs868868348	1124	P>S		No	gnomAD
rs1883813742	1126	S>A		No	TOPMed
rs1883813742	1126	S>T		No	TOPMed
rs2139510079	1127	K>E		No	Ensembl
TCGA novel	1129	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1883462173	1137	H>R		No	TOPMed
rs1883462053	1140	S>G		No	Ensembl
rs1261911065	1143	P>R		No	gnomAD
rs1480658842	1143	P>S		No	TOPMed gnomAD
COSM4051007 COSM4051006	1146	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1147	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs981117525	1147	P>S		No	TOPMed
COSM3496147 COSM3496146	1151	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1883460747	1154	K>M		No	gnomAD
rs750028573	1156	D>Y		No	ExAC TOPMed gnomAD
TCGA novel	1157	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765598266	1157	H>R		No	ExAC gnomAD
rs762097372	1158	D>E		No	ExAC gnomAD
rs1883460079	1159	A>V		No	TOPMed
rs371703424	1161	N>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs371703424	1161	N>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs962182717	1163	K>E		No	TOPMed
COSM4051004 COSM4051005	1163	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs267603995	1164	G>E		No	Ensembl
rs267603996	1164	G>R		No	Ensembl
rs1883404187	1165	N>D		No	Ensembl
rs1181265033	1166	M>I		No	gnomAD
rs754201398	1166	M>V		No	ExAC gnomAD
rs767512189	1169	D>G		No	ExAC TOPMed gnomAD
rs1237281803	1170	D>N		No	TOPMed gnomAD
rs1883402959	1171	D>H		No	gnomAD
rs1445144256	1173	P>H		No	gnomAD
rs1205489039	1174	A>V		No	gnomAD
rs774571340	1175	I>L		No	ExAC TOPMed gnomAD
rs766766467	1176	P>A		No	ExAC gnomAD
rs763247508	1178	R>T		No	ExAC gnomAD
rs768458643	1179	Q>H		No	ExAC gnomAD
rs1328697686	1180	P>L		No	TOPMed gnomAD
rs746932412	1181	P>R		No	ExAC gnomAD
rs775431214 COSM4894004 COSM4894003	1182	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs745438802	1184	K>Q		No	ExAC gnomAD
rs1385319218	1190	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1883400421	1191	V>A		No	Ensembl
rs748928047	1192	P>A		No	ExAC gnomAD
rs778025485	1192	P>L		No	ExAC TOPMed gnomAD
rs575821377	1193	T>A		No	Ensembl
rs753151750	1195	A>G		No	ExAC TOPMed gnomAD
rs768208805	1196	F>L		No	ExAC gnomAD
rs925597959	1197	D>G		No	Ensembl
rs755530290	1199	P>L		No	ExAC gnomAD
rs143389332	1201	H>Q		No	ESP TOPMed
rs1272391524	1202	S>G		No	gnomAD
rs967815973	1202	S>N		No	TOPMed gnomAD
COSM698459 COSM698458	1204	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1408173955	1205	P>T		No	TOPMed
rs763800624	1206	P>L		No	ExAC TOPMed gnomAD
TCGA novel	1207	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1406410850	1208	P>R		No	gnomAD
COSM698461 COSM698460	1208	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760582921	1210	D>G		No	ExAC TOPMed gnomAD
rs760582921	1210	D>V		No	ExAC TOPMed gnomAD
rs1297567846	1210	D>Y		No	TOPMed
rs1327675347	1211	P>A		No	gnomAD
rs775132991	1211	P>L		No	ExAC gnomAD
rs1883397635	1213	P>A		No	Ensembl
rs1566814755	1214	D>N		No	Ensembl
rs773877975	1215	T>N		No	ExAC TOPMed gnomAD
rs966216557	1215	T>S		No	TOPMed
rs770375789	1216	P>L		No	ExAC TOPMed gnomAD
rs770375789	1216	P>R		No	ExAC TOPMed gnomAD
rs916130695	1221	L>F		No	gnomAD
rs1202582363	1222	R>L		No	TOPMed gnomAD
rs1202582363	1222	R>Q		No	TOPMed gnomAD
rs1232489201	1222	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1439656850	1223	P>H		No	TOPMed gnomAD
rs1439656850	1223	P>L		No	TOPMed gnomAD
rs777421603	1224	P>S		No	ExAC gnomAD
rs1018592964	1226	H>L		No	TOPMed
rs781674653	1228	I>V		No	ExAC gnomAD
rs1367910776	1229	N>S		No	gnomAD
rs1232822758	1230	C>S		No	TOPMed gnomAD
rs534481979	1231	P>L		No	1000Genomes ExAC gnomAD
rs568713722	1232	F>L		No	1000Genomes gnomAD
rs1004995082	1233	N>D		No	TOPMed gnomAD
TCGA novel	1234	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780303872	1235	Q>*		No	ExAC gnomAD
rs758436424	1235	Q>H		No	ExAC gnomAD
rs1883395132	1235	Q>P		No	gnomAD
TCGA novel	1235	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1594951340	1237	P>L		No	TOPMed
rs1178375270	1237	P>S		No	TOPMed gnomAD
rs765551658	1239	L>P		No	ExAC gnomAD
rs765551658	1239	L>R		No	ExAC gnomAD
rs1471245340	1241	H>R		No	gnomAD
rs1238884738	1243	H>Y		No	gnomAD
rs1883393408	1245	D>V		No	Ensembl
rs1883393125	1247	D>N		No	TOPMed
rs138133010	1248	W>*		No	ESP ExAC TOPMed gnomAD
rs376891859	1248	W>G		No	Ensembl
rs774220553	1249	L>F		No	ExAC gnomAD
rs538397799	1249	L>P		No	1000Genomes ExAC gnomAD
rs1027873133	1250	R>G		No	TOPMed gnomAD
rs1463068418	1250	R>K		No	TOPMed
TCGA novel	1252	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs762593451	1253	S>N		No	ExAC TOPMed gnomAD
rs1883391516	1254	T>A		No	TOPMed
rs772587016	1254	T>K		No	ExAC TOPMed gnomAD
COSM2198273 rs772587016 COSM2198272	1254	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs747726856	1256	P>L		No	ExAC gnomAD
rs1466450390	1257	N>S		No	gnomAD
rs769093505	1258	S>L		No	ExAC TOPMed gnomAD
TCGA novel	1259	P>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1381150331	1260	S>G		No	gnomAD
rs1163048019	1260	S>N		No	gnomAD
TCGA novel	1263	P>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1369942 rs1883388671 COSM1369943	1263	P>S	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2139464078	1264	S>G		No	Ensembl
rs1594951212	1264	S>I		No	Ensembl
rs1240732714	1268	P>S		No	gnomAD
rs778824765	1269	R>K		No	ExAC gnomAD
rs778824765	1269	R>T		No	ExAC gnomAD
TCGA novel	1270	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757528344	1270	V>I		No	ExAC gnomAD
rs757528344	1270	V>L		No	ExAC gnomAD
rs1286260102	1271	P>L		No	TOPMed gnomAD
COSM698463 COSM698462	1273	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1286973480	1274	C>R		No	gnomAD
rs1432602605	1274	C>Y		No	gnomAD
rs1163199209	1275	Y>*		No	TOPMed gnomAD
rs762780180	1277	L>F		No	ExAC gnomAD
rs572041424	1280	S>N		No	TOPMed gnomAD
rs2139463656	1280	S>R		No	Ensembl
rs1417984521	1283	N>K		No	gnomAD
rs1883381723	1284	L>V		No	Ensembl
rs1488835771	1285	A>G		No	gnomAD
rs1566814466	1285	A>T		No	Ensembl
rs764614880	1286	H>R		No	ExAC gnomAD
rs1268576704	1286	H>Y		No	TOPMed gnomAD
COSM955990 COSM955989	1287	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs900986254	1288	P>S		No	gnomAD
rs2139463385	1291	P>T		No	Ensembl
rs1883378714	1292	V>L		No	TOPMed gnomAD
rs1306889983	1293	P>L		No	gnomAD
rs1306889983	1293	P>R		No	gnomAD
rs1313556512	1296	Q>R		No	TOPMed
rs1566814414	1297	N>I		No	Ensembl
rs1293320922	1298	S>*		No	TOPMed gnomAD
rs1293320922	1298	S>L		No	TOPMed gnomAD
rs1216203903	1299	S>R		No	gnomAD
rs2139463228	1299	S>T		No	Ensembl
rs1340925625	1300	P>A		No	TOPMed gnomAD
rs1302226100	1300	P>L		No	TOPMed gnomAD
rs1302226100	1300	P>R		No	TOPMed gnomAD
rs1340925625	1300	P>S		No	TOPMed gnomAD
rs184739336	1301	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs77480640	1303	P>Q		No	Ensembl
TCGA novel	1306	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2139463075 RCV002275504	1309	T>*		No	ClinVar dbSNP
COSM1300637 COSM1300636	1310	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775973831	1312	R>G		No	ExAC TOPMed gnomAD
rs772673873	1312	R>P		No	ExAC TOPMed gnomAD
rs772673873	1312	R>Q		No	ExAC TOPMed gnomAD
rs775973831	1312	R>W		No	ExAC TOPMed gnomAD
rs746317294	1313	E>D		No	ExAC TOPMed gnomAD
rs1173204281	1314	L>F		No	gnomAD
rs1594950987	1316	H>P		No	Ensembl
rs1405316248	1316	H>Y		No	TOPMed
rs757222020	1317	P>L		No	ExAC gnomAD
rs1883373167	1317	P>S		No	gnomAD
rs140995728	1318	P>A		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM392237 COSM392236	1318	P>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1433339408	1318	P>Q		No	TOPMed gnomAD
rs766057658	1320	Y>*		No	ExAC TOPMed gnomAD
rs758393305	1323	P>S		No	ExAC gnomAD
rs1318434566	1328	A>G		No	gnomAD
rs1221459646	1329	E>G		No	gnomAD
rs916183780	1329	E>K		No	Ensembl
rs2139462511	1331	P>A		No	Ensembl
rs1057370507	1331	P>L		No	Ensembl
rs1883367511	1332	Q>*		No	TOPMed
TCGA novel	1332	Q>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1369941 COSM1369940	1332	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs142666803	1333	Q>R		No	ESP ExAC TOPMed gnomAD

1 associated diseases with Q07890

[MIM: 616559]: Noonan syndrome 9 (NS9)

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q07890

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	198 - 388	IPR000219
domain	Ras-like guanine nucleotide exchange factor, N-terminal	594 - 739	IPR000651
domain	Pleckstrin homology domain	441 - 546	IPR001849
domain	Ras guanine-nucleotide exchange factors catalytic domain	774 - 1018	IPR001895
conserved_site	Ras guanine-nucleotide exchange factor, conserved site	925 - 958	IPR019804

Functions

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

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.

7 GO annotations of biological process

Name	Definition
B cell homeostasis	The process of regulating the proliferation and elimination of B cells such that the total number of B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.
insulin receptor signaling pathway	The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
positive regulation of small GTPase mediated signal transduction	Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of pro-B cell differentiation	Any process that modulates the frequency, rate or extent of pro-B cell differentiation.
regulation of T cell differentiation in thymus	Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus.
regulation of T cell proliferation	Any process that modulates the frequency, rate or extent of T cell proliferation.

30 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6N9I4	RASGRP2	RAS guanyl-releasing protein 2	Bos taurus (Bovine)	SS
Q1LZ97	RASGRP4	RAS guanyl-releasing protein 4	Bos taurus (Bovine)	SS
A0A3S5ZPR1	RASGRP3	RAS guanyl releasing protein 3	Gallus gallus (Chicken)	SS
P26675	Sos	Protein son of sevenless	Drosophila melanogaster (Fruit fly)	SS
Q07889	SOS1	Son of sevenless homolog 1	Homo sapiens (Human)	EV
Q13905	RAPGEF1	Rap guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
O95398	RAPGEF3	Rap guanine nucleotide exchange factor 3	Homo sapiens (Human)	EV
Q8WZA2	RAPGEF4	Rap guanine nucleotide exchange factor 4	Homo sapiens (Human)	SS
Q8N431	RASGEF1C	Ras-GEF domain-containing family member 1C	Homo sapiens (Human)	PR
Q8N9B8	RASGEF1A	Ras-GEF domain-containing family member 1A	Homo sapiens (Human)	PR
Q8IZJ4	RGL4	Ral-GDS-related protein	Homo sapiens (Human)	PR
Q12967	RALGDS	Ral guanine nucleotide dissociation stimulator	Homo sapiens (Human)	PR
O95267	RASGRP1	RAS guanyl-releasing protein 1	Homo sapiens (Human)	EV
Q8TDF6	RASGRP4	RAS guanyl-releasing protein 4	Homo sapiens (Human)	SS
Q7LDG7	RASGRP2	RAS guanyl-releasing protein 2	Homo sapiens (Human)	EV SS
Q8IV61	RASGRP3	Ras guanyl-releasing protein 3	Homo sapiens (Human)	SS
Q86X27	RALGPS2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Homo sapiens (Human)	PR
Q5JS13	RALGPS1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Homo sapiens (Human)	PR
A2AR50	Ralgps1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Mus musculus (Mouse)	PR
Q8BTM9	Rasgrp4	RAS guanyl-releasing protein 4	Mus musculus (Mouse)	SS
Q9Z1S3	Rasgrp1	RAS guanyl-releasing protein 1	Mus musculus (Mouse)	SS
Q9QUG9	Rasgrp2	RAS guanyl-releasing protein 2	Mus musculus (Mouse)	SS
Q9ERD6	Ralgps2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Mus musculus (Mouse)	PR
Q62245	Sos1	Son of sevenless homolog 1	Mus musculus (Mouse)	SS
Q02384	Sos2	Son of sevenless homolog 2	Mus musculus (Mouse)	SS
Q9R1K8	Rasgrp1	RAS guanyl-releasing protein 1	Rattus norvegicus (Rat)	SS
P0C643	Rasgrp2	RAS guanyl-releasing protein 2	Rattus norvegicus (Rat)	SS
Q8R5I4	Rasgrp4	RAS guanyl-releasing protein 4	Rattus norvegicus (Rat)	SS
Q9N5D3	sos-1	Son of sevenless homolog	Caenorhabditis elegans	EV
A4IJ06	rasgrp1	RAS guanyl-releasing protein 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS

10	20	30	40	50	60
MQQAPQPYEF	FSEENSPKWR	GLLVSALRKV	QEQVHPTLSA	NEESLYYIEE	LIFQLLNKLC
70	80	90	100	110	120
MAQPRTVQDV	EERVQKTFPH	PIDKWAIADA	QSAIEKRKRR	NPLLLPVDKI	HPSLKEVLGY
130	140	150	160	170	180
KVDYHVSLYI	VAVLEYISAD	ILKLAGNYVF	NIRHYEISQQ	DIKVSMCADK	VLMDMFDQDD
190	200	210	220	230	240
IGLVSLCEDE	PSSSGELNYY	DLVRTEIAEE	RQYLRELNMI	IKVFREAFLS	DRKLFKPSDI
250	260	270	280	290	300
EKIFSNISDI	HELTVKLLGL	IEDTVEMTDE	SSPHPLAGSC	FEDLAEEQAF	DPYETLSQDI
310	320	330	340	350	360
LSPEFHEHFN	KLMARPAVAL	HFQSIADGFK	EAVRYVLPRL	MLVPVYHCWH	YFELLKQLKA
370	380	390	400	410	420
CSEEQEDREC	LNQAITALMN	LQGSMDRIYK	QYSPRRRPGD	PVCPFYSHQL	RSKHLAIKKM
430	440	450	460	470	480
NEIQKNIDGW	EGKDIGQCCN	EFIMEGPLTR	IGAKHERHIF	LFDGLMISCK	PNHGQTRLPG
490	500	510	520	530	540
YSSAEYRLKE	KFVMRKIQIC	DKEDTCEHKH	AFELVSKDEN	SIIFAAKSAE	EKNNWMAALI
550	560	570	580	590	600
SLHYRSTLDR	MLDSVLLKEE	NEQPLRLPSP	EVYRFVVKDS	EENIVFEDNL	QSRSGIPIIK
610	620	630	640	650	660
GGTVVKLIER	LTYHMYADPN	FVRTFLTTYR	SFCKPQELLS	LLIERFEIPE	PEPTDADKLA
670	680	690	700	710	720
IEKGEQPISA	DLKRFRKEYV	QPVQLRILNV	FRHWVEHHFY	DFERDLELLE	RLESFISSVR
730	740	750	760	770	780
GKAMKKWVES	IAKIIRRKKQ	AQANGVSHNI	TFESPPPPIE	WHISKPGQFE	TFDLMTLHPI
790	800	810	820	830	840
EIARQLTLLE	SDLYRKVQPS	ELVGSVWTKE	DKEINSPNLL	KMIRHTTNLT	LWFEKCIVEA
850	860	870	880	890	900
ENFEERVAVL	SRIIEILQVF	QDLNNFNGVL	EIVSAVNSVS	VYRLDHTFEA	LQERKRKILD
910	920	930	940	950	960
EAVELSQDHF	KKYLVKLKSI	NPPCVPFFGI	YLTNILKTEE	GNNDFLKKKG	KDLINFSKRR
970	980	990	1000	1010	1020
KVAEITGEIQ	QYQNQPYCLR	IEPDMRRFFE	NLNPMGSASE	KEFTDYLFNK	SLEIEPRNCK
1030	1040	1050	1060	1070	1080
QPPRFPRKST	FSLKSPGIRP	NTGRHGSTSG	TLRGHPTPLE	REPCKISFSR	IAETELESTV
1090	1100	1110	1120	1130	1140
SAPTSPNTPS	TPPVSASSDL	SVFLDVDLNS	SCGSNSIFAP	VLLPHSKSFF	SSCGSLHKLS
1150	1160	1170	1180	1190	1200
EEPLIPPPLP	PRKKFDHDAS	NSKGNMKSDD	DPPAIPPRQP	PPPKVKPRVP	VPTGAFDGPL
1210	1220	1230	1240	1250	1260
HSPPPPPPRD	PLPDTPPPVP	LRPPEHFINC	PFNLQPPPLG	HLHRDSDWLR	DISTCPNSPS
1270	1280	1290	1300	1310	1320
TPPSTPSPRV	PRRCYVLSSS	QNNLAHPPAP	PVPPRQNSSP	HLPKLPPKTY	KRELSHPPLY
1330
RLPLLENAET	PQ