CleftGeneDB-Search

Gene: SH3PXD2A

Basic information

Tag	Content
Uniprot ID	Q5TCZ1; D3DR98; O43302; Q5TCZ2; Q5TDQ8;
Entrez ID	9644
Genbank protein ID	EAW49623.1; EAW49624.1; BAA24848.2;
Genbank nucleotide ID	XM_005270294.4; NM_014631.2;
Ensembl protein ID	ENSP00000348215; ENSP00000358789;
Ensembl nucleotide ID	ENSG00000107957
Gene name	SH3 and PX domain-containing protein 2A
Gene symbol	SH3PXD2A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide.
Sequence	MLAYCVQDAT VVDVEKRRNP SKHYVYIINV TWSDSTSQTI YRRYSKFFDL QMQLLDKFPI 60 EGGQKDPKQR IIPFLPGKIL FRRSHIRDVA VKRLKPIDEY CRALVRLPPH ISQCDEVFRF 120 FEARPEDVNP PKEDYGSSKR KSVWLSSWAE SPKKDVTGAD ATAEPMILEQ YVVVSNYKKQ 180 ENSELSLQAG EVVDVIEKNE SGWWFVSTSE EQGWVPATYL EAQNGTRDDS DINTSKTGEV 240 SKRRKAHLRR LDRRWTLGGM VNRQHSREEK YVTVQPYTSQ SKDEIGFEKG VTVEVIRKNL 300 EGWWYIRYLG KEGWAPASYL KKAKDDLPTR KKNLAGPVEI IGNIMEISNL LNKKASGDKE 360 TPPAEGEGHE APIAKKEISL PILCNASNGS AVGVPDRTVS RLAQGSPAVA RIAPQRAQIS 420 SPNLRTRPPP RRESSLGFQL PKPPEPPSVE VEYYTIAEFQ SCISDGISFR GGQKAEVIDK 480 NSGGWWYVQI GEKEGWAPAS YIDKRKKPNL SRRTSTLTRP KVPPPAPPSK PKEAEEGPTG 540 ASESQDSPRK LKYEEPEYDI PAFGFDSEPE LSEEPVEDRA SGERRPAQPH RPSPASSLQR 600 ARFKVGESSE DVALEEETIY ENEGFRPYAE DTLSARGSSG DSDSPGSSSL SLTRKNSPKS 660 GSPKSSSLLK LKAEKNAQAE MGKNHSSASF SSSITINTTC CSSSSSSSSS LSKTSGDLKP 720 RSASDAGIRG TPKVRAKKDA DANAGLTSCP RAKPSVRPKP FLNRAESQSQ EKMDISTLRR 780 QLRPTGQLRG GLKGSKSEDS ELPPQTASEA PSEGSRRSSS DLITLPATTP PCPTKKEWEG 840 PATSYMTCSA YQKVQDSEIS FPAGVEVQVL EKQESGWWYV RFGELEGWAP SHYLVLDENE 900 QPDPSGKELD TVPAKGRQNE GKSDSLEKIE RRVQALNTVN QSKKATPPIP SKPPGGFGKT 960 SGTPAVKMRN GVRQVAVRPQ SVFVSPPPKD NNLSCALRRN ESLTATDGLR GVRRNSSFST 1020 ARSAAAEAKG RLAERAASQG SDSPLLPAQR NSIPVSPVRP KPIEKSQFIH NNLKDVYVSI 1080 ADYEGDEETA GFQEGVSMEV LERNPNGWWY CQILDGVKPF KGWVPSNYLE KKN 1133

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2DNU
2EGA
2EGC
2EKH
2DNU
2EGA
2EGC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	SH3PXD2A	486874	F1PLG9		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SH3PXD2A		A0A452ED30		Capra hircus	Prediction	More>>
1:1 ortholog	SH3PXD2A	9644	Q5TCZ1		Homo sapiens	Prediction	More>>
1:1 ortholog	Sh3pxd2a	14218	O89032	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SH3PXD2A	450714	A0A2I3RAY9		Pan troglodytes	Prediction	More>>
1:1 ortholog	SH3PXD2A	100343675	A0A5F9D2I8		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Sh3pxd2a	309460	A0A0G2JX92		Rattus norvegicus	Prediction	More>>
1:1 ortholog	sh3pxd2aa	562018	T1ECT1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1360021870	p.Leu2Pro	missense variant	-	NC_000010.11:g.103855262A>G	gnomAD
rs1005117513	p.Leu2Phe	missense variant	-	NC_000010.11:g.103855263G>A	TOPMed,gnomAD
rs1313364610	p.Ala3Thr	missense variant	-	NC_000010.11:g.103855260C>T	gnomAD
rs754861600	p.Cys5Tyr	missense variant	-	NC_000010.11:g.103855253C>T	ExAC,TOPMed,gnomAD
rs754861600	p.Cys5Ser	missense variant	-	NC_000010.11:g.103855253C>G	ExAC,TOPMed,gnomAD
rs753738859	p.Val6Leu	missense variant	-	NC_000010.11:g.103855251C>A	ExAC,TOPMed,gnomAD
rs753738859	p.Val6Met	missense variant	-	NC_000010.11:g.103855251C>T	ExAC,TOPMed,gnomAD
rs1485231470	p.Thr10Ala	missense variant	-	NC_000010.11:g.103855239T>C	gnomAD
rs1257619915	p.Arg18Lys	missense variant	-	NC_000010.11:g.103855214C>T	gnomAD
rs1190371040	p.Ile27Val	missense variant	-	NC_000010.11:g.103801356T>C	TOPMed
rs566845122	p.Asn29Ser	missense variant	-	NC_000010.11:g.103801349T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs961692005	p.Asn29Asp	missense variant	-	NC_000010.11:g.103801350T>C	TOPMed,gnomAD
rs1202685286	p.Thr31Ile	missense variant	-	NC_000010.11:g.103801343G>A	gnomAD
COSM3433890	p.Ser37Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103801325G>A	NCI-TCGA Cosmic
rs748432001	p.Ser37Cys	missense variant	-	NC_000010.11:g.103801325G>C	ExAC,gnomAD
COSM914443	p.Thr39Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103801319G>A	NCI-TCGA Cosmic
rs779004473	p.Ile40Val	missense variant	-	NC_000010.11:g.103801317T>C	ExAC,TOPMed,gnomAD
rs1433448388	p.Tyr41Cys	missense variant	-	NC_000010.11:g.103801313T>C	TOPMed
rs1450453209	p.Arg42Gln	missense variant	-	NC_000010.11:g.103801310C>T	TOPMed,gnomAD
rs1353675755	p.Arg43Lys	missense variant	-	NC_000010.11:g.103801307C>T	TOPMed,gnomAD
COSM914442	p.Phe47Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103801294G>T	NCI-TCGA Cosmic
rs142363666	p.Asp49Glu	missense variant	-	NC_000010.11:g.103801288G>T	ESP,ExAC,TOPMed,gnomAD
rs766880400	p.Met52Val	missense variant	-	NC_000010.11:g.103767169T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp56Glu	missense variant	-	NC_000010.11:g.103767155A>T	NCI-TCGA
rs1043329139	p.Asp56Val	missense variant	-	NC_000010.11:g.103767156T>A	TOPMed,gnomAD
rs761240387	p.Lys57Glu	missense variant	-	NC_000010.11:g.103767154T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys57Gln	missense variant	-	NC_000010.11:g.103767154T>G	NCI-TCGA
rs1165422933	p.Pro59Ser	missense variant	-	NC_000010.11:g.103767148G>A	TOPMed
rs1337528700	p.Ile60Thr	missense variant	-	NC_000010.11:g.103767144A>G	gnomAD
COSM4011412	p.Gly63Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103767136C>A	NCI-TCGA Cosmic
rs943566522	p.Lys65Asn	missense variant	-	NC_000010.11:g.103767128C>A	TOPMed
rs1304573101	p.Lys68Met	missense variant	-	NC_000010.11:g.103767120T>A	gnomAD
rs773270349	p.Gln69Lys	missense variant	-	NC_000010.11:g.103767118G>T	ExAC,gnomAD
rs772086631	p.Arg70Gly	missense variant	-	NC_000010.11:g.103767115T>C	ExAC,gnomAD
rs1438282546	p.Pro73Ser	missense variant	-	NC_000010.11:g.103767106G>A	gnomAD
rs1168652934	p.Leu80Phe	missense variant	-	NC_000010.11:g.103735800G>A	TOPMed,gnomAD
rs1168652934	p.Leu80Ile	missense variant	-	NC_000010.11:g.103735800G>T	TOPMed,gnomAD
rs1476517906	p.Arg82Cys	missense variant	-	NC_000010.11:g.103735794G>A	gnomAD
rs200780520	p.Arg82His	missense variant	-	NC_000010.11:g.103735793C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg82Leu	missense variant	-	NC_000010.11:g.103735793C>A	NCI-TCGA
rs768916662	p.Arg83Lys	missense variant	-	NC_000010.11:g.103735790C>T	ExAC,gnomAD
rs1380286672	p.Ser84Asn	missense variant	-	NC_000010.11:g.103735787C>T	TOPMed
rs1259473323	p.Ile86Phe	missense variant	-	NC_000010.11:g.103735782T>A	gnomAD
rs775793318	p.Arg87Gln	missense variant	-	NC_000010.11:g.103735778C>T	ExAC,TOPMed,gnomAD
rs749529339	p.Arg87Trp	missense variant	-	NC_000010.11:g.103735779G>A	NCI-TCGA
rs749529339	p.Arg87Trp	missense variant	-	NC_000010.11:g.103735779G>A	ExAC,TOPMed,gnomAD
COSM3790449	p.Asp88Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103735776C>A	NCI-TCGA Cosmic
rs769645818	p.Asp88Asn	missense variant	-	NC_000010.11:g.103735776C>T	ExAC,gnomAD
rs140324699	p.Val89Leu	missense variant	-	NC_000010.11:g.103735773C>A	ESP,ExAC,TOPMed,gnomAD
rs140324699	p.Val89Ile	missense variant	-	NC_000010.11:g.103735773C>T	ESP,ExAC,TOPMed,gnomAD
rs1286422479	p.Lys92Arg	missense variant	-	NC_000010.11:g.103735763T>C	TOPMed,gnomAD
rs1340179182	p.Pro96Ser	missense variant	-	NC_000010.11:g.103735752G>A	gnomAD
rs1277117176	p.Ile97Val	missense variant	-	NC_000010.11:g.103735749T>C	gnomAD
rs1398442660	p.Asp98Asn	missense variant	-	NC_000010.11:g.103735746C>T	gnomAD
rs758059765	p.Arg102Trp	missense variant	-	NC_000010.11:g.103735734G>A	ExAC,gnomAD
rs143409187	p.Arg102Pro	missense variant	-	NC_000010.11:g.103735733C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143409187	p.Arg102Gln	missense variant	-	NC_000010.11:g.103735733C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372408078	p.Ala103Thr	missense variant	-	NC_000010.11:g.103724361C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM6128098	p.Ala103Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724361C>G	NCI-TCGA Cosmic
rs372408078	p.Ala103Thr	missense variant	-	NC_000010.11:g.103724361C>T	ESP,TOPMed,gnomAD
rs372408078	p.Ala103Ser	missense variant	-	NC_000010.11:g.103724361C>A	ESP,TOPMed,gnomAD
COSM914441	p.Val105Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724354A>G	NCI-TCGA Cosmic
rs139971124	p.Arg106Gln	missense variant	-	NC_000010.11:g.103724351C>T	ESP,ExAC,TOPMed,gnomAD
rs764693058	p.Pro109His	missense variant	-	NC_000010.11:g.103724342G>T	ExAC,TOPMed,gnomAD
rs764693058	p.Pro109Leu	missense variant	-	NC_000010.11:g.103724342G>A	ExAC,TOPMed,gnomAD
COSM5747181	p.His110ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103724340G>-	NCI-TCGA Cosmic
rs149867987	p.His110Tyr	missense variant	-	NC_000010.11:g.103724340G>A	ESP,ExAC,TOPMed,gnomAD
rs149867987	p.His110Asn	missense variant	-	NC_000010.11:g.103724340G>T	ESP,ExAC,TOPMed,gnomAD
rs149867987	p.His110Asp	missense variant	-	NC_000010.11:g.103724340G>C	ESP,ExAC,TOPMed,gnomAD
rs777796332	p.His110ProPheSerTerUnk	frameshift	-	NC_000010.11:g.103724339_103724340insG	NCI-TCGA,NCI-TCGA Cosmic
rs1166375374	p.Ser112Leu	missense variant	-	NC_000010.11:g.103724333G>A	TOPMed
rs1176333434	p.Glu116Lys	missense variant	-	NC_000010.11:g.103724322C>T	TOPMed,gnomAD
rs1176333434	p.Glu116Lys	missense variant	-	NC_000010.11:g.103724322C>T	NCI-TCGA Cosmic
rs1176333434	p.Glu116Gln	missense variant	-	NC_000010.11:g.103724322C>G	TOPMed,gnomAD
rs1243361641	p.Val117Leu	missense variant	-	NC_000010.11:g.103724319C>G	gnomAD
rs537392376	p.Arg119Gln	missense variant	-	NC_000010.11:g.103724312C>T	ExAC,TOPMed,gnomAD
COSM683464	p.Arg119Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724312C>G	NCI-TCGA Cosmic
rs760527451	p.Arg119Trp	missense variant	-	NC_000010.11:g.103724313G>A	ExAC,gnomAD
rs867071115	p.Glu122Lys	missense variant	-	NC_000010.11:g.103724304C>T	TOPMed,gnomAD
COSM914439	p.Ala123Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724300G>A	NCI-TCGA Cosmic
rs200891786	p.Arg124Gln	missense variant	-	NC_000010.11:g.103724297C>T	TOPMed,gnomAD
rs139050830	p.Arg124Ter	stop gained	-	NC_000010.11:g.103724298G>A	ESP,ExAC,TOPMed,gnomAD
rs773914702	p.Pro125Leu	missense variant	-	NC_000010.11:g.103724294G>A	ExAC,TOPMed,gnomAD
rs1398061001	p.Pro125Ala	missense variant	-	NC_000010.11:g.103724295G>C	gnomAD
rs748879853	p.Glu126Lys	missense variant	-	NC_000010.11:g.103724292C>T	ExAC,TOPMed,gnomAD
rs552256820	p.Asn129Thr	missense variant	-	NC_000010.11:g.103724282T>G	ExAC,TOPMed,gnomAD
rs552256820	p.Asn129Ser	missense variant	-	NC_000010.11:g.103724282T>C	ExAC,TOPMed,gnomAD
rs1252197515	p.Asn129Lys	missense variant	-	NC_000010.11:g.103724281G>T	TOPMed
rs1425147269	p.Pro131Leu	missense variant	-	NC_000010.11:g.103724276G>A	gnomAD
rs1425147269	p.Pro131Leu	missense variant	-	NC_000010.11:g.103724276G>A	NCI-TCGA
rs200512666	p.Glu133Gly	missense variant	-	NC_000010.11:g.103724270T>C	1000Genomes,ExAC,gnomAD
rs200512666	p.Glu133Val	missense variant	-	NC_000010.11:g.103724270T>A	1000Genomes,ExAC,gnomAD
rs1306879501	p.Tyr135Cys	missense variant	-	NC_000010.11:g.103693051T>C	gnomAD
rs914094677	p.Gly136Ser	missense variant	-	NC_000010.11:g.103693049C>T	TOPMed,gnomAD
rs769317587	p.Ser137Asn	missense variant	-	NC_000010.11:g.103693045C>T	ExAC,gnomAD
rs759297756	p.Ser138Cys	missense variant	-	NC_000010.11:g.103693042G>C	ExAC,TOPMed,gnomAD
rs759297756	p.Ser138Phe	missense variant	-	NC_000010.11:g.103693042G>A	ExAC,TOPMed,gnomAD
rs1324926595	p.Ser138Pro	missense variant	-	NC_000010.11:g.103693043A>G	gnomAD
rs551918548	p.Lys141Gln	missense variant	-	NC_000010.11:g.103693034T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser142Leu	missense variant	-	NC_000010.11:g.103693030G>A	NCI-TCGA
rs149386041	p.Trp144Ter	stop gained	-	NC_000010.11:g.103668648C>T	1000Genomes,ExAC,gnomAD
rs1405864132	p.Ser147Arg	missense variant	-	NC_000010.11:g.103668639G>T	TOPMed,gnomAD
rs1330815454	p.Ser147Ile	missense variant	-	NC_000010.11:g.103668640C>A	gnomAD
rs1415818432	p.Glu150Ter	stop gained	-	NC_000010.11:g.103668632C>A	gnomAD
rs200454434	p.Ser151Leu	missense variant	-	NC_000010.11:g.103668628G>A	1000Genomes,ExAC,gnomAD
rs763250710	p.Lys153Arg	missense variant	-	NC_000010.11:g.103668622T>C	ExAC,gnomAD
rs770243854	p.Asp155Val	missense variant	-	NC_000010.11:g.103668616T>A	ExAC,gnomAD
rs370795778	p.Val156Met	missense variant	-	NC_000010.11:g.103668614C>T	ESP,ExAC,gnomAD
rs370795778	p.Val156Leu	missense variant	-	NC_000010.11:g.103668614C>G	ESP,ExAC,gnomAD
rs1221724532	p.Thr157Ile	missense variant	-	NC_000010.11:g.103668610G>A	TOPMed,gnomAD
rs1221724532	p.Thr157Arg	missense variant	-	NC_000010.11:g.103668610G>C	TOPMed,gnomAD
rs772220322	p.Gly158Ala	missense variant	-	NC_000010.11:g.103661114C>G	ExAC,gnomAD
rs1452855343	p.Gly158Arg	missense variant	-	NC_000010.11:g.103668608C>G	TOPMed,gnomAD
rs1190180926	p.Ala159Thr	missense variant	-	NC_000010.11:g.103661112C>T	gnomAD
COSM3367881	p.Asp160Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661107G>T	NCI-TCGA Cosmic
rs1261389191	p.Asp160Asn	missense variant	-	NC_000010.11:g.103661109C>T	TOPMed
rs778626806	p.Ala161Thr	missense variant	-	NC_000010.11:g.103661106C>T	ExAC,gnomAD
rs954522846	p.Ala161Val	missense variant	-	NC_000010.11:g.103661105G>A	TOPMed,gnomAD
rs1260567777	p.Thr162Asn	missense variant	-	NC_000010.11:g.103661102G>T	gnomAD
rs1484613264	p.Ala163Gly	missense variant	-	NC_000010.11:g.103661099G>C	TOPMed,gnomAD
rs1211083764	p.Ala163Thr	missense variant	-	NC_000010.11:g.103661100C>T	gnomAD
rs749994972	p.Glu164Lys	missense variant	-	NC_000010.11:g.103661097C>T	ExAC,gnomAD
rs548414943	p.Glu164Asp	missense variant	-	NC_000010.11:g.103661095C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Met166Ile	missense variant	-	NC_000010.11:g.103661089C>T	NCI-TCGA
rs1279938709	p.Glu169Gln	missense variant	-	NC_000010.11:g.103661082C>G	TOPMed,gnomAD
rs1398081631	p.Glu169Gly	missense variant	-	NC_000010.11:g.103661081T>C	gnomAD
rs753101031	p.Gln170Glu	missense variant	-	NC_000010.11:g.103661079G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln170His	missense variant	-	NC_000010.11:g.103661077C>A	NCI-TCGA
rs772430992	p.Tyr171His	missense variant	-	NC_000010.11:g.103661076A>G	ExAC,TOPMed,gnomAD
COSM1345613	p.Val172Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661072A>G	NCI-TCGA Cosmic
rs754292436	p.Val172Met	missense variant	-	NC_000010.11:g.103661073C>T	ExAC,gnomAD
rs754292436	p.Val172Leu	missense variant	-	NC_000010.11:g.103661073C>G	ExAC,gnomAD
rs1175310067	p.Val172Glu	missense variant	-	NC_000010.11:g.103661072A>T	gnomAD
rs766899736	p.Ser175Phe	missense variant	-	NC_000010.11:g.103661063G>A	ExAC,gnomAD
rs566015876	p.Asn176Ser	missense variant	-	NC_000010.11:g.103661060T>C	ExAC,gnomAD
rs773325825	p.Tyr177His	missense variant	-	NC_000010.11:g.103661058A>G	ExAC
COSM4867424	p.Glu181Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661044C>A	NCI-TCGA Cosmic
COSM3433887	p.Asn182Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661041G>C	NCI-TCGA Cosmic
rs1173441198	p.Asn182Ser	missense variant	-	NC_000010.11:g.103661042T>C	gnomAD
rs761878823	p.Ser186Asn	missense variant	-	NC_000010.11:g.103661030C>T	ExAC,gnomAD
rs768289473	p.Ala189Ser	missense variant	-	NC_000010.11:g.103661022C>A	ExAC,TOPMed,gnomAD
rs1312431998	p.Ala189Asp	missense variant	-	NC_000010.11:g.103661021G>T	TOPMed,gnomAD
rs768289473	p.Ala189Thr	missense variant	-	NC_000010.11:g.103661022C>T	ExAC,TOPMed,gnomAD
rs1414110348	p.Gly190Arg	missense variant	-	NC_000010.11:g.103661019C>T	-
NCI-TCGA novel	p.Glu191Lys	missense variant	-	NC_000010.11:g.103661016C>T	NCI-TCGA
rs1235904657	p.Val192Met	missense variant	-	NC_000010.11:g.103661013C>T	gnomAD
rs769902522	p.Glu200Gln	missense variant	-	NC_000010.11:g.103660989C>G	ExAC,TOPMed,gnomAD
rs769902522	p.Glu200Lys	missense variant	-	NC_000010.11:g.103660989C>T	ExAC,TOPMed,gnomAD
rs1216715805	p.Gly202Ser	missense variant	-	NC_000010.11:g.103660983C>T	gnomAD
NCI-TCGA novel	p.Val206Met	missense variant	-	NC_000010.11:g.103627191C>T	NCI-TCGA
rs777256655	p.Ser209Tyr	missense variant	-	NC_000010.11:g.103627181G>T	ExAC,gnomAD
rs1179938628	p.Glu211Lys	missense variant	-	NC_000010.11:g.103627176C>T	gnomAD
rs1268864724	p.Gln212Glu	missense variant	-	NC_000010.11:g.103627173G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln212Leu	missense variant	-	NC_000010.11:g.103627172T>A	NCI-TCGA
rs756487203	p.Val215Ala	missense variant	-	NC_000010.11:g.103627163A>G	ExAC,TOPMed,gnomAD
rs370026425	p.Ala217Val	missense variant	-	NC_000010.11:g.103627157G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asn224Tyr	missense variant	-	NC_000010.11:g.103627137T>A	NCI-TCGA
rs751711689	p.Gly225Val	missense variant	-	NC_000010.11:g.103627133C>A	ExAC,gnomAD
rs376429114	p.Thr226Ile	missense variant	-	NC_000010.11:g.103627130G>A	ESP,gnomAD
rs573274664	p.Arg227Gln	missense variant	-	NC_000010.11:g.103627127C>T	ExAC,TOPMed,gnomAD
rs973127894	p.Arg227Gly	missense variant	-	NC_000010.11:g.103627128G>C	TOPMed,gnomAD
rs973127894	p.Arg227Trp	missense variant	-	NC_000010.11:g.103627128G>A	TOPMed,gnomAD
rs763334045	p.Asp228Asn	missense variant	-	NC_000010.11:g.103627125C>T	ExAC,gnomAD
rs763334045	p.Asp228Tyr	missense variant	-	NC_000010.11:g.103627125C>A	ExAC,gnomAD
COSM3433886	p.Ser230Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103627118G>A	NCI-TCGA Cosmic
rs147297499	p.Asp231Asn	missense variant	-	NC_000010.11:g.103627116C>T	ESP,ExAC,TOPMed,gnomAD
rs776390133	p.Ile232Val	missense variant	-	NC_000010.11:g.103627113T>C	ExAC,TOPMed,gnomAD
rs1303116164	p.Asn233Asp	missense variant	-	NC_000010.11:g.103627110T>C	gnomAD
rs770939335	p.Asn233Ile	missense variant	-	NC_000010.11:g.103627109T>A	ExAC,TOPMed,gnomAD
rs144033187	p.Ser235Phe	missense variant	-	NC_000010.11:g.103627103G>A	ESP,ExAC,TOPMed,gnomAD
rs772833585	p.Lys236Glu	missense variant	-	NC_000010.11:g.103627101T>C	ExAC,TOPMed,gnomAD
rs1453401781	p.Glu239Val	missense variant	-	NC_000010.11:g.103627091T>A	gnomAD
rs771704485	p.Glu239Asp	missense variant	-	NC_000010.11:g.103627090T>G	ExAC,gnomAD
rs925458185	p.Lys242Arg	missense variant	-	NC_000010.11:g.103622547T>C	TOPMed,gnomAD
rs1341449107	p.Arg244His	missense variant	-	NC_000010.11:g.103622541C>T	TOPMed,gnomAD
rs746206752	p.Arg244Cys	missense variant	-	NC_000010.11:g.103622542G>A	ExAC,gnomAD
rs893064778	p.Arg249Gln	missense variant	-	NC_000010.11:g.103622526C>T	TOPMed,gnomAD
rs1009820415	p.Arg249Trp	missense variant	-	NC_000010.11:g.103622527G>A	TOPMed,gnomAD
rs910209228	p.Arg250His	missense variant	-	NC_000010.11:g.103622523C>T	TOPMed,gnomAD
rs1054273824	p.Arg250Cys	missense variant	-	NC_000010.11:g.103622524G>A	TOPMed,gnomAD
rs537151936	p.Arg253Cys	missense variant	-	NC_000010.11:g.103622515G>A	1000Genomes,TOPMed,gnomAD
rs1472972520	p.Arg253His	missense variant	-	NC_000010.11:g.103622514C>T	TOPMed,gnomAD
rs1370037332	p.Arg254Trp	missense variant	-	NC_000010.11:g.103622512G>A	gnomAD
rs578015462	p.Arg254Gln	missense variant	-	NC_000010.11:g.103622511C>T	1000Genomes,TOPMed,gnomAD
rs578015462	p.Arg254Leu	missense variant	-	NC_000010.11:g.103622511C>A	1000Genomes,TOPMed,gnomAD
rs1443673334	p.Trp255Arg	missense variant	-	NC_000010.11:g.103622509A>G	gnomAD
rs1238229110	p.Leu257Val	missense variant	-	NC_000010.11:g.103622503G>C	gnomAD
rs1197396033	p.Gly258Arg	missense variant	-	NC_000010.11:g.103622500C>G	TOPMed
rs927146287	p.Gly259Arg	missense variant	-	NC_000010.11:g.103622497C>T	TOPMed,gnomAD
rs1045559878	p.Gly259Ala	missense variant	-	NC_000010.11:g.103622496C>G	TOPMed,gnomAD
rs1195745446	p.Met260Val	missense variant	-	NC_000010.11:g.103622494T>C	gnomAD
rs971974123	p.Met260Ile	missense variant	-	NC_000010.11:g.103622492C>T	TOPMed
rs1317684227	p.Ser266Asn	missense variant	-	NC_000010.11:g.103622475C>T	TOPMed,gnomAD
rs557881180	p.Arg267Gln	missense variant	-	NC_000010.11:g.103622472C>T	1000Genomes,TOPMed,gnomAD
rs775020448	p.Glu269Lys	missense variant	-	NC_000010.11:g.103617312C>T	ExAC,TOPMed,gnomAD
rs1406563761	p.Tyr271Phe	missense variant	-	NC_000010.11:g.103617305T>A	gnomAD
rs747363516	p.Tyr271His	missense variant	-	NC_000010.11:g.103617306A>G	ExAC,gnomAD
rs1271631505	p.Val274Glu	missense variant	-	NC_000010.11:g.103617296A>T	gnomAD
rs138514344	p.Val274Met	missense variant	-	NC_000010.11:g.103617297C>T	ESP,ExAC,TOPMed,gnomAD
rs779197677	p.Tyr277His	missense variant	-	NC_000010.11:g.103617288A>G	ExAC,TOPMed,gnomAD
rs375071473	p.Thr278Ile	missense variant	-	NC_000010.11:g.103617284G>A	ESP,ExAC,TOPMed,gnomAD
rs375071473	p.Thr278Asn	missense variant	-	NC_000010.11:g.103617284G>T	ESP,ExAC,TOPMed,gnomAD
rs900349964	p.Ser279Asn	missense variant	-	NC_000010.11:g.103617281C>T	TOPMed
rs780174314	p.Asp283Glu	missense variant	-	NC_000010.11:g.103617268G>T	ExAC,gnomAD
rs750272182	p.Glu284Asp	missense variant	-	NC_000010.11:g.103617265C>A	ExAC,gnomAD
rs755909162	p.Glu284Lys	missense variant	-	NC_000010.11:g.103617267C>T	ExAC,TOPMed,gnomAD
rs1283856620	p.Ile285Met	missense variant	-	NC_000010.11:g.103617262A>C	gnomAD
rs1378075924	p.Glu288Lys	missense variant	-	NC_000010.11:g.103617255C>T	TOPMed
COSM427022	p.Glu288Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103617255C>G	NCI-TCGA Cosmic
rs1395793197	p.Lys289Asn	missense variant	-	NC_000010.11:g.103617250C>A	TOPMed
rs767433126	p.Gly290Asp	missense variant	-	NC_000010.11:g.103617248C>T	ExAC,gnomAD
rs751502344	p.Val291Ile	missense variant	-	NC_000010.11:g.103617246C>T	ExAC,gnomAD
rs1008944183	p.Thr292Arg	missense variant	-	NC_000010.11:g.103617242G>C	TOPMed
rs1226877575	p.Val293Ala	missense variant	-	NC_000010.11:g.103617239A>G	TOPMed
rs754882553	p.Glu294Asp	missense variant	-	NC_000010.11:g.103617235C>A	TOPMed
rs1428185989	p.Arg297Trp	missense variant	-	NC_000010.11:g.103617228G>A	TOPMed,gnomAD
rs143819462	p.Arg297Gln	missense variant	-	NC_000010.11:g.103617227C>T	ESP,ExAC,TOPMed,gnomAD
rs1470631641	p.Lys298Asn	missense variant	-	NC_000010.11:g.103617223C>A	gnomAD
rs769369053	p.Leu300Val	missense variant	-	NC_000010.11:g.103617219G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu300Met	missense variant	-	NC_000010.11:g.103617219G>T	NCI-TCGA
rs577209053	p.Glu301Lys	missense variant	-	NC_000010.11:g.103617216C>T	TOPMed,gnomAD
rs199626166	p.Glu301Asp	missense variant	-	NC_000010.11:g.103617214T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1424761157	p.Gly302Ala	missense variant	-	NC_000010.11:g.103617212C>G	TOPMed,gnomAD
rs1204892775	p.Gly302Ser	missense variant	-	NC_000010.11:g.103617213C>T	gnomAD
rs1188604535	p.Trp303Arg	missense variant	-	NC_000010.11:g.103617210A>T	TOPMed,gnomAD
rs1187868099	p.Tyr305Cys	missense variant	-	NC_000010.11:g.103617203T>C	TOPMed
rs1485117246	p.Tyr305His	missense variant	-	NC_000010.11:g.103617204A>G	gnomAD
rs984514262	p.Ala315Val	missense variant	-	NC_000010.11:g.103613167G>A	gnomAD
NCI-TCGA novel	p.Ser318Phe	missense variant	-	NC_000010.11:g.103613158G>A	NCI-TCGA
rs138730731	p.Leu320Val	missense variant	-	NC_000010.11:g.103613153G>C	ESP,TOPMed
rs746032143	p.Arg330Trp	missense variant	-	NC_000010.11:g.103613123G>A	ExAC,TOPMed,gnomAD
rs201054626	p.Arg330Gln	missense variant	-	NC_000010.11:g.103613122C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4871316	p.Lys331Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103613118C>A	NCI-TCGA Cosmic
rs1184644032	p.Lys332Asn	missense variant	-	NC_000010.11:g.103613115C>G	TOPMed,gnomAD
rs373027762	p.Gly336Ser	missense variant	-	NC_000010.11:g.103613105C>T	ESP,ExAC,TOPMed,gnomAD
rs542587373	p.Ile340Val	missense variant	-	NC_000010.11:g.103613093T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs758325237	p.Ile341Thr	missense variant	-	NC_000010.11:g.103613089A>G	ExAC,TOPMed,gnomAD
rs1254969661	p.Ile344Val	missense variant	-	NC_000010.11:g.103613081T>C	TOPMed
rs754545170	p.Met345Thr	missense variant	-	NC_000010.11:g.103613077A>G	ExAC,gnomAD
rs1357018704	p.Ile347Met	missense variant	-	NC_000010.11:g.103613070G>C	gnomAD
rs1290516560	p.Leu350Val	missense variant	-	NC_000010.11:g.103613063G>C	TOPMed,gnomAD
rs150202723	p.Ala355Gly	missense variant	-	NC_000010.11:g.103613047G>C	ESP,ExAC,TOPMed,gnomAD
rs150202723	p.Ala355Val	missense variant	-	NC_000010.11:g.103613047G>A	ESP,ExAC,TOPMed,gnomAD
rs1162455322	p.Gly357Arg	missense variant	-	NC_000010.11:g.103613042C>T	TOPMed
rs1373173349	p.Asp358Glu	missense variant	-	NC_000010.11:g.103613037G>T	gnomAD
rs1304308845	p.Lys359Glu	missense variant	-	NC_000010.11:g.103613036T>C	gnomAD
rs763304996	p.Glu360Lys	missense variant	-	NC_000010.11:g.103613033C>T	ExAC,TOPMed,gnomAD
rs1364114968	p.Glu360Asp	missense variant	-	NC_000010.11:g.103613031T>G	gnomAD
rs763304996	p.Glu360Gln	missense variant	-	NC_000010.11:g.103613033C>G	ExAC,TOPMed,gnomAD
rs776079197	p.Thr361Pro	missense variant	-	NC_000010.11:g.103613030T>G	ExAC,gnomAD
rs776079197	p.Thr361Ala	missense variant	-	NC_000010.11:g.103613030T>C	ExAC,gnomAD
rs1365585866	p.Pro362Ser	missense variant	-	NC_000010.11:g.103613027G>A	gnomAD
rs759644147	p.Pro362Leu	missense variant	-	NC_000010.11:g.103613026G>A	ExAC,TOPMed,gnomAD
rs141288204	p.Glu365Lys	missense variant	-	NC_000010.11:g.103613018C>T	ESP,ExAC,TOPMed,gnomAD
rs747972923	p.Glu367Lys	missense variant	-	NC_000010.11:g.103613012C>T	ExAC,TOPMed,gnomAD
rs1258602227	p.Glu370Ala	missense variant	-	NC_000010.11:g.103613002T>G	gnomAD
rs1312269041	p.Ile373Thr	missense variant	-	NC_000010.11:g.103612993A>G	TOPMed,gnomAD
rs779013852	p.Ala374Thr	missense variant	-	NC_000010.11:g.103612991C>T	ExAC,TOPMed,gnomAD
rs1275653645	p.Lys376Asn	missense variant	-	NC_000010.11:g.103612983C>G	TOPMed
rs1214859105	p.Lys376Glu	missense variant	-	NC_000010.11:g.103612985T>C	TOPMed
rs754494273	p.Leu380Val	missense variant	-	NC_000010.11:g.103612973G>C	ExAC,gnomAD
rs932594485	p.Ile382Leu	missense variant	-	NC_000010.11:g.103612967T>G	TOPMed
rs1315959324	p.Leu383Phe	missense variant	-	NC_000010.11:g.103612964G>A	gnomAD
rs779841429	p.Ser387Thr	missense variant	-	NC_000010.11:g.103612952A>T	ExAC,gnomAD
rs764308411	p.Asn388Ser	missense variant	-	NC_000010.11:g.103612948T>C	ExAC,gnomAD
rs755901745	p.Asn388His	missense variant	-	NC_000010.11:g.103612949T>G	ExAC,gnomAD
rs764308411	p.Asn388Ile	missense variant	-	NC_000010.11:g.103612948T>A	ExAC,gnomAD
rs1430150659	p.Ser390Gly	missense variant	-	NC_000010.11:g.103612943T>C	gnomAD
rs1009485	p.Ser390Ile	missense variant	-	NC_000010.11:g.103612942C>A	gnomAD
rs117568095	p.Ala391Val	missense variant	-	NC_000010.11:g.103612939G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs553552960	p.Val392Met	missense variant	-	NC_000010.11:g.103612937C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1448548703	p.Gly393Asp	missense variant	-	NC_000010.11:g.103612933C>T	TOPMed,gnomAD
rs771136503	p.Val394Ile	missense variant	-	NC_000010.11:g.103612931C>T	ExAC,TOPMed,gnomAD
rs760741994	p.Pro395Thr	missense variant	-	NC_000010.11:g.103612928G>T	ExAC,TOPMed,gnomAD
rs1264530315	p.Asp396Tyr	missense variant	-	NC_000010.11:g.103612925C>A	gnomAD
rs574187550	p.Thr398Ile	missense variant	-	NC_000010.11:g.103612918G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1034382171	p.Val399Asp	missense variant	-	NC_000010.11:g.103612915A>T	TOPMed,gnomAD
rs1034382171	p.Val399Gly	missense variant	-	NC_000010.11:g.103612915A>C	TOPMed,gnomAD
rs1321974064	p.Val399Ile	missense variant	-	NC_000010.11:g.103612916C>T	gnomAD
rs1355863959	p.Leu402Pro	missense variant	-	NC_000010.11:g.103612906A>G	TOPMed
rs748002576	p.Ala403Val	missense variant	-	NC_000010.11:g.103612903G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln404Leu	missense variant	-	NC_000010.11:g.103612900T>A	NCI-TCGA
rs919966470	p.Gly405Val	missense variant	-	NC_000010.11:g.103612897C>A	TOPMed,gnomAD
rs919966470	p.Gly405Asp	missense variant	-	NC_000010.11:g.103612897C>T	TOPMed,gnomAD
rs1445364525	p.Gly405Arg	missense variant	-	NC_000010.11:g.103612898C>G	TOPMed
COSM3806380	p.Ser406Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103612894G>C	NCI-TCGA Cosmic
rs778960704	p.Pro407Ala	missense variant	-	NC_000010.11:g.103612892G>C	ExAC,TOPMed,gnomAD
rs1234327195	p.Val409Met	missense variant	-	NC_000010.11:g.103612886C>T	TOPMed
rs748805333	p.Arg411Ser	missense variant	-	NC_000010.11:g.103612878C>A	ExAC,gnomAD
rs768774482	p.Arg411Gly	missense variant	-	NC_000010.11:g.103612880T>C	ExAC,gnomAD
rs779355515	p.Ile412Val	missense variant	-	NC_000010.11:g.103612877T>C	ExAC,TOPMed,gnomAD
rs755667357	p.Ala413Ser	missense variant	-	NC_000010.11:g.103612874C>A	ExAC,TOPMed,gnomAD
rs749994408	p.Pro414Leu	missense variant	-	NC_000010.11:g.103612870G>A	ExAC,gnomAD
rs780930094	p.Arg416Trp	missense variant	-	NC_000010.11:g.103612865G>A	ExAC,TOPMed,gnomAD
rs758662098	p.Arg416Gln	missense variant	-	NC_000010.11:g.103612864C>T	ExAC,TOPMed,gnomAD
rs758662098	p.Arg416Leu	missense variant	-	NC_000010.11:g.103612864C>A	ExAC,TOPMed,gnomAD
rs753107754	p.Gln418His	missense variant	-	NC_000010.11:g.103612857C>G	ExAC,gnomAD
rs760101816	p.Ser420Cys	missense variant	-	NC_000010.11:g.103612853T>A	ExAC,gnomAD
rs1360619411	p.Ser420Arg	missense variant	-	NC_000010.11:g.103611629G>C	gnomAD
rs779180648	p.Ser421Tyr	missense variant	-	NC_000010.11:g.103611627G>T	ExAC,TOPMed,gnomAD
rs779180648	p.Ser421Cys	missense variant	-	NC_000010.11:g.103611627G>C	ExAC,TOPMed,gnomAD
rs755348691	p.Pro422Leu	missense variant	-	NC_000010.11:g.103611624G>A	ExAC,gnomAD
rs202011870	p.Leu424Arg	missense variant	-	NC_000010.11:g.103611618A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756112682	p.Arg425Trp	missense variant	-	NC_000010.11:g.103611616G>A	ExAC,gnomAD
rs747631325	p.Arg425Gln	missense variant	-	NC_000010.11:g.103611615C>T	ExAC,TOPMed,gnomAD
rs762031781	p.Pro430Thr	missense variant	-	NC_000010.11:g.103611601G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro430Ser	missense variant	-	NC_000010.11:g.103611601G>A	NCI-TCGA
rs201296459	p.Arg431His	missense variant	-	NC_000010.11:g.103611597C>T	ExAC,TOPMed,gnomAD
rs370598379	p.Arg431Cys	missense variant	-	NC_000010.11:g.103611598G>A	ESP,ExAC,TOPMed,gnomAD
rs1391573822	p.Arg432Gly	missense variant	-	NC_000010.11:g.103611595T>C	TOPMed
rs142706485	p.Glu433Gln	missense variant	-	NC_000010.11:g.103611592C>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Glu433Ter	stop gained	-	NC_000010.11:g.103611592C>A	NCI-TCGA
rs1159748911	p.Ser434Tyr	missense variant	-	NC_000010.11:g.103611588G>T	gnomAD
rs1477908828	p.Gln439His	missense variant	-	NC_000010.11:g.103605909T>G	gnomAD
rs1242858651	p.Leu440Met	missense variant	-	NC_000010.11:g.103605908G>T	gnomAD
rs201074203	p.Lys442Asn	missense variant	-	NC_000010.11:g.103605900C>A	1000Genomes,TOPMed,gnomAD
rs1445350044	p.Val449Ile	missense variant	-	NC_000010.11:g.103605881C>T	gnomAD
rs767579345	p.Glu450Val	missense variant	-	NC_000010.11:g.103605877T>A	ExAC,gnomAD
rs757439029	p.Glu452Gln	missense variant	-	NC_000010.11:g.103605872C>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr454Phe	missense variant	-	NC_000010.11:g.103605865T>A	NCI-TCGA
COSM3367880	p.Thr455Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103605862G>A	NCI-TCGA Cosmic
rs148490577	p.Glu458Asp	missense variant	-	NC_000010.11:g.103605852T>A	ESP,TOPMed
COSM6128099	p.Glu458Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103605854C>A	NCI-TCGA Cosmic
rs764452321	p.Glu458Lys	missense variant	-	NC_000010.11:g.103605854C>T	ExAC,gnomAD
rs762820471	p.Ser461Leu	missense variant	-	NC_000010.11:g.103605844G>A	ExAC,gnomAD
rs908565357	p.Ser464Ala	missense variant	-	NC_000010.11:g.103605836A>C	TOPMed,gnomAD
rs866309156	p.Asp465Asn	missense variant	-	NC_000010.11:g.103605833C>T	TOPMed,gnomAD
rs1336872292	p.Asp465Val	missense variant	-	NC_000010.11:g.103605832T>A	gnomAD
rs776445357	p.Gly466Ala	missense variant	-	NC_000010.11:g.103605829C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile467Phe	missense variant	-	NC_000010.11:g.103605827T>A	NCI-TCGA
rs1467494100	p.Ser468Asn	missense variant	-	NC_000010.11:g.103605823C>T	TOPMed
rs374221356	p.Arg470Gln	missense variant	-	NC_000010.11:g.103605817C>T	ESP,ExAC,TOPMed,gnomAD
rs374221356	p.Arg470Pro	missense variant	-	NC_000010.11:g.103605817C>G	ESP,ExAC,TOPMed,gnomAD
rs1213617503	p.Arg470Trp	missense variant	-	NC_000010.11:g.103605818G>A	TOPMed
rs750376276	p.Val477Phe	missense variant	-	NC_000010.11:g.103603789C>A	ExAC
rs766966921	p.Val477Gly	missense variant	-	NC_000010.11:g.103603788A>C	ExAC
rs1374642845	p.Tyr487Asn	missense variant	-	NC_000010.11:g.103603759A>T	gnomAD
rs1036074765	p.Val488Met	missense variant	-	NC_000010.11:g.103603756C>T	TOPMed,gnomAD
rs1036074765	p.Val488Leu	missense variant	-	NC_000010.11:g.103603756C>A	TOPMed,gnomAD
rs941171217	p.Gly491Asp	missense variant	-	NC_000010.11:g.103603746C>T	TOPMed
rs1366771506	p.Gly491Ser	missense variant	-	NC_000010.11:g.103603747C>T	gnomAD
rs199737235	p.Glu492Lys	missense variant	-	NC_000010.11:g.103603744C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777205961	p.Lys493Glu	missense variant	-	NC_000010.11:g.103603741T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp496Cys	missense variant	-	NC_000010.11:g.103603730C>A	NCI-TCGA
rs771429951	p.Trp496Cys	missense variant	-	NC_000010.11:g.103603730C>G	ExAC,gnomAD
rs747458165	p.Ala499Thr	missense variant	-	NC_000010.11:g.103603723C>T	ExAC,TOPMed,gnomAD
rs570018935	p.Tyr501Phe	missense variant	-	NC_000010.11:g.103603716T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ile502Thr	missense variant	-	NC_000010.11:g.103603713A>G	NCI-TCGA
rs779173732	p.Asp503Asn	missense variant	-	NC_000010.11:g.103603711C>T	ExAC,TOPMed,gnomAD
rs1375127496	p.Lys504Thr	missense variant	-	NC_000010.11:g.103603707T>G	TOPMed,gnomAD
rs749103006	p.Arg505Cys	missense variant	-	NC_000010.11:g.103603705G>A	ExAC,TOPMed,gnomAD
rs749103006	p.Arg505Ser	missense variant	-	NC_000010.11:g.103603705G>T	ExAC,TOPMed,gnomAD
rs779769042	p.Arg505His	missense variant	-	NC_000010.11:g.103603704C>T	ExAC,gnomAD
rs779769042	p.Arg505Leu	missense variant	-	NC_000010.11:g.103603704C>A	ExAC,gnomAD
rs755927002	p.Asn509Lys	missense variant	-	NC_000010.11:g.103603691G>T	ExAC,gnomAD
rs750321416	p.Arg512Cys	missense variant	-	NC_000010.11:g.103603684G>A	ExAC,TOPMed,gnomAD
rs767484015	p.Arg512His	missense variant	-	NC_000010.11:g.103603683C>T	ExAC,TOPMed,gnomAD
rs763801052	p.Arg513His	missense variant	-	NC_000010.11:g.103603680C>T	ExAC,gnomAD
rs751092364	p.Arg513Cys	missense variant	-	NC_000010.11:g.103603681G>A	ExAC,gnomAD
rs775293260	p.Ser515Gly	missense variant	-	NC_000010.11:g.103603675T>C	ExAC,gnomAD
rs761148021	p.Thr516Met	missense variant	-	NC_000010.11:g.103603671G>A	ExAC,TOPMed,gnomAD
rs931913063	p.Thr518Ile	missense variant	-	NC_000010.11:g.103603665G>A	TOPMed
rs931913063	p.Thr518Asn	missense variant	-	NC_000010.11:g.103603665G>T	TOPMed
rs1201268825	p.Arg519Gly	missense variant	-	NC_000010.11:g.103603663G>C	gnomAD
rs1431236944	p.Arg519Gln	missense variant	-	NC_000010.11:g.103603662C>T	gnomAD
NCI-TCGA novel	p.Arg519Trp	missense variant	-	NC_000010.11:g.103603663G>A	NCI-TCGA
NCI-TCGA novel	p.Arg519Leu	missense variant	-	NC_000010.11:g.103603662C>A	NCI-TCGA
rs1266161823	p.Val522Leu	missense variant	-	NC_000010.11:g.103603654C>G	TOPMed,gnomAD
rs1266161823	p.Val522Met	missense variant	-	NC_000010.11:g.103603654C>T	TOPMed,gnomAD
rs773819318	p.Pro524Leu	missense variant	-	NC_000010.11:g.103603647G>A	ExAC,gnomAD
rs1265736101	p.Pro527Ala	missense variant	-	NC_000010.11:g.103603639G>C	gnomAD
rs917334009	p.Pro527Leu	missense variant	-	NC_000010.11:g.103603638G>A	TOPMed
COSM270136	p.Ser529AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103603634G>-	NCI-TCGA Cosmic
rs774359387	p.Lys532Arg	missense variant	-	NC_000010.11:g.103603623T>C	ExAC,gnomAD
rs774359387	p.Lys532Met	missense variant	-	NC_000010.11:g.103603623T>A	ExAC,gnomAD
rs1300843206	p.Glu535Lys	missense variant	-	NC_000010.11:g.103603615C>T	gnomAD
rs1383030240	p.Glu535Asp	missense variant	-	NC_000010.11:g.103603613C>G	TOPMed,gnomAD
rs956097860	p.Gly537Asp	missense variant	-	NC_000010.11:g.103603608C>T	TOPMed
rs1364147478	p.Gly537Ser	missense variant	-	NC_000010.11:g.103603609C>T	gnomAD
rs1318568970	p.Pro538Arg	missense variant	-	NC_000010.11:g.103603605G>C	gnomAD
rs768783739	p.Thr539Met	missense variant	-	NC_000010.11:g.103603602G>A	ExAC,TOPMed,gnomAD
rs975966157	p.Thr539Ala	missense variant	-	NC_000010.11:g.103603603T>C	TOPMed,gnomAD
rs975966157	p.Thr539Pro	missense variant	-	NC_000010.11:g.103603603T>G	TOPMed,gnomAD
rs780286964	p.Ala541Thr	missense variant	-	NC_000010.11:g.103603597C>T	ExAC,gnomAD
rs1193408799	p.Ser542Arg	missense variant	-	NC_000010.11:g.103603594T>G	gnomAD
rs965874831	p.Ser544Asn	missense variant	-	NC_000010.11:g.103603587C>T	gnomAD
NCI-TCGA novel	p.Asp546His	missense variant	-	NC_000010.11:g.103603582C>G	NCI-TCGA
rs755873630	p.Asp546Asn	missense variant	-	NC_000010.11:g.103603582C>T	ExAC,TOPMed,gnomAD
rs367962270	p.Pro548Leu	missense variant	-	NC_000010.11:g.103603575G>A	ESP,ExAC,TOPMed,gnomAD
rs777092853	p.Arg549Gln	missense variant	-	NC_000010.11:g.103603572C>T	ExAC,TOPMed,gnomAD
rs751523064	p.Arg549Trp	missense variant	-	NC_000010.11:g.103603573G>A	ExAC,TOPMed,gnomAD
rs376475072	p.Lys550Thr	missense variant	-	NC_000010.11:g.103603569T>G	ESP,ExAC,gnomAD
rs752354197	p.Leu551Phe	missense variant	-	NC_000010.11:g.103603567G>A	ExAC,gnomAD
rs765018486	p.Tyr553His	missense variant	-	NC_000010.11:g.103603561A>G	ExAC,gnomAD
rs761098740	p.Tyr553Phe	missense variant	-	NC_000010.11:g.103603560T>A	ExAC,gnomAD
rs761098740	p.Tyr553Cys	missense variant	-	NC_000010.11:g.103603560T>C	ExAC,gnomAD
rs750875523	p.Glu557Asp	missense variant	-	NC_000010.11:g.103603547C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu557Gln	missense variant	-	NC_000010.11:g.103603549C>G	NCI-TCGA
rs1463359085	p.Asp559Asn	missense variant	-	NC_000010.11:g.103603543C>T	gnomAD
rs373020614	p.Asp559Glu	missense variant	-	NC_000010.11:g.103603541G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile560Thr	missense variant	-	NC_000010.11:g.103603539A>G	NCI-TCGA
COSM3433884	p.Pro561Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603537G>A	NCI-TCGA Cosmic
rs1286877734	p.Ala562Val	missense variant	-	NC_000010.11:g.103603533G>A	TOPMed
rs1479477578	p.Ala562Thr	missense variant	-	NC_000010.11:g.103603534C>T	gnomAD
rs775667785	p.Gly564Ser	missense variant	-	NC_000010.11:g.103603528C>T	ExAC,TOPMed,gnomAD
rs1354330557	p.Phe565Ser	missense variant	-	NC_000010.11:g.103603524A>G	TOPMed
rs1209359707	p.Asp566Glu	missense variant	-	NC_000010.11:g.103603520G>T	TOPMed
rs1292750103	p.Ser567Ala	missense variant	-	NC_000010.11:g.103603519A>C	TOPMed
rs770063317	p.Leu571Val	missense variant	-	NC_000010.11:g.103603507G>C	ExAC,TOPMed,gnomAD
rs140387928	p.Ser572Gly	missense variant	-	NC_000010.11:g.103603504T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140387928	p.Ser572Cys	missense variant	-	NC_000010.11:g.103603504T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746869156	p.Ser572Arg	missense variant	-	NC_000010.11:g.103603502G>T	ExAC,gnomAD
rs777794207	p.Glu573Lys	missense variant	-	NC_000010.11:g.103603501C>T	ExAC,TOPMed,gnomAD
rs377100440	p.Val576Leu	missense variant	-	NC_000010.11:g.103603492C>G	ESP,ExAC,TOPMed,gnomAD
rs377100440	p.Val576Met	missense variant	-	NC_000010.11:g.103603492C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu583Asp	missense variant	-	NC_000010.11:g.103603469C>G	NCI-TCGA
rs1368539136	p.Glu583Lys	missense variant	-	NC_000010.11:g.103603471C>T	gnomAD
NCI-TCGA novel	p.Arg584Trp	missense variant	-	NC_000010.11:g.103603468T>A	NCI-TCGA
rs941256865	p.Arg584Lys	missense variant	-	NC_000010.11:g.103603467C>T	TOPMed,gnomAD
rs372858484	p.Arg585Trp	missense variant	-	NC_000010.11:g.103603465G>A	ESP,ExAC
rs764711625	p.Arg585Gln	missense variant	-	NC_000010.11:g.103603464C>T	ExAC,gnomAD
rs763008226	p.Ala587Pro	missense variant	-	NC_000010.11:g.103603459C>G	ExAC,TOPMed,gnomAD
rs1427424381	p.Gln588Lys	missense variant	-	NC_000010.11:g.103603456G>T	TOPMed
rs775618751	p.His590Pro	missense variant	-	NC_000010.11:g.103603449T>G	ExAC,gnomAD
rs759699398	p.Arg591Gln	missense variant	-	NC_000010.11:g.103603446C>T	ExAC,TOPMed,gnomAD
rs1044167049	p.Arg591Trp	missense variant	-	NC_000010.11:g.103603447G>A	TOPMed,gnomAD
rs759699398	p.Arg591Leu	missense variant	-	NC_000010.11:g.103603446C>A	ExAC,TOPMed,gnomAD
rs776936856	p.Ser593Leu	missense variant	-	NC_000010.11:g.103603440G>A	ExAC,TOPMed,gnomAD
rs143941309	p.Pro594Leu	missense variant	-	NC_000010.11:g.103603437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244095931	p.Ser596Phe	missense variant	-	NC_000010.11:g.103603431G>A	TOPMed
rs747656273	p.Arg600Gln	missense variant	-	NC_000010.11:g.103603419C>T	ExAC,TOPMed,gnomAD
rs772194389	p.Arg600Trp	missense variant	-	NC_000010.11:g.103603420G>A	ExAC,TOPMed,gnomAD
rs778498635	p.Ala601Ser	missense variant	-	NC_000010.11:g.103603417C>A	ExAC,gnomAD
rs748853817	p.Arg602His	missense variant	-	NC_000010.11:g.103603413C>T	ExAC,TOPMed,gnomAD
rs140108315	p.Arg602Cys	missense variant	-	NC_000010.11:g.103603414G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253928509	p.Lys604Arg	missense variant	-	NC_000010.11:g.103603407T>C	TOPMed
rs752019733	p.Gly606Asp	missense variant	-	NC_000010.11:g.103603401C>T	ExAC,TOPMed,gnomAD
rs1351190759	p.Glu607Lys	missense variant	-	NC_000010.11:g.103603399C>T	gnomAD
rs764508570	p.Glu610Lys	missense variant	-	NC_000010.11:g.103603390C>T	ExAC,gnomAD
rs1159617170	p.Glu615Lys	missense variant	-	NC_000010.11:g.103603375C>T	gnomAD
rs1181865196	p.Tyr620Phe	missense variant	-	NC_000010.11:g.103603359T>A	gnomAD
rs765256036	p.Glu621Lys	missense variant	-	NC_000010.11:g.103603357C>T	ExAC,gnomAD
rs759640059	p.Arg626Gln	missense variant	-	NC_000010.11:g.103603341C>T	ExAC,TOPMed,gnomAD
COSM914432	p.Pro627Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603339G>A	NCI-TCGA Cosmic
rs1219718561	p.Pro627Leu	missense variant	-	NC_000010.11:g.103603338G>A	gnomAD
rs776683814	p.Glu630Gln	missense variant	-	NC_000010.11:g.103603330C>G	ExAC
rs1405548785	p.Asp631Ala	missense variant	-	NC_000010.11:g.103603326T>G	gnomAD
rs1040319628	p.Leu633Val	missense variant	-	NC_000010.11:g.103603321G>C	TOPMed,gnomAD
rs1285096168	p.Arg636Ile	missense variant	-	NC_000010.11:g.103603311C>A	gnomAD
rs141568792	p.Ser639Phe	missense variant	-	NC_000010.11:g.103603302G>A	ESP,TOPMed,gnomAD
rs376504935	p.Gly640Arg	missense variant	-	NC_000010.11:g.103603300C>T	ESP,ExAC,TOPMed,gnomAD
rs773124770	p.Ser642Asn	missense variant	-	NC_000010.11:g.103603293C>T	ExAC,gnomAD
rs145692705	p.Asp643Asn	missense variant	-	NC_000010.11:g.103603291C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201710367	p.Ser644Thr	missense variant	-	NC_000010.11:g.103603288A>T	1000Genomes,ExAC
NCI-TCGA novel	p.Ser647Ile	missense variant	-	NC_000010.11:g.103603278C>A	NCI-TCGA
rs748881031	p.Ser649Leu	missense variant	-	NC_000010.11:g.103603272G>A	ExAC,TOPMed,gnomAD
rs748881031	p.Ser649Trp	missense variant	-	NC_000010.11:g.103603272G>C	ExAC,TOPMed,gnomAD
rs530029154	p.Ser649Pro	missense variant	-	NC_000010.11:g.103603273A>G	ExAC,TOPMed,gnomAD
rs748881031	p.Ser649Ter	stop gained	-	NC_000010.11:g.103603272G>T	ExAC,TOPMed,gnomAD
rs1159095161	p.Leu650Pro	missense variant	-	NC_000010.11:g.103603269A>G	gnomAD
rs1242521341	p.Asn656Tyr	missense variant	-	NC_000010.11:g.103603252T>A	TOPMed,gnomAD
rs1477794207	p.Lys659Thr	missense variant	-	NC_000010.11:g.103603242T>G	gnomAD
NCI-TCGA novel	p.Lys659AsnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.103603244G>-	NCI-TCGA
NCI-TCGA novel	p.Lys659GlnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.103603243_103603244insG	NCI-TCGA
rs1477794207	p.Lys659Arg	missense variant	-	NC_000010.11:g.103603242T>C	gnomAD
rs373377492	p.Gly661Ser	missense variant	-	NC_000010.11:g.103603237C>T	ESP,ExAC,TOPMed,gnomAD
rs753165090	p.Gly661Val	missense variant	-	NC_000010.11:g.103603236C>A	ExAC,TOPMed,gnomAD
rs765769948	p.Pro663Leu	missense variant	-	NC_000010.11:g.103603230G>A	ExAC,TOPMed,gnomAD
rs765769948	p.Pro663Arg	missense variant	-	NC_000010.11:g.103603230G>C	ExAC,TOPMed,gnomAD
rs1313704536	p.Ser665Leu	missense variant	-	NC_000010.11:g.103603224G>A	TOPMed,gnomAD
rs754002774	p.Ser666Pro	missense variant	-	NC_000010.11:g.103603222A>G	ExAC,gnomAD
rs766501746	p.Leu669Pro	missense variant	-	NC_000010.11:g.103603212A>G	ExAC,gnomAD
rs1419729334	p.Leu671Phe	missense variant	-	NC_000010.11:g.103603207G>A	TOPMed
rs199610107	p.Glu674Gly	missense variant	-	NC_000010.11:g.103603197T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199610107	p.Glu674Ala	missense variant	-	NC_000010.11:g.103603197T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773318680	p.Asn676Thr	missense variant	-	NC_000010.11:g.103603191T>G	ExAC,gnomAD
rs1320473470	p.Gly682Glu	missense variant	-	NC_000010.11:g.103603173C>T	TOPMed,gnomAD
rs767370392	p.Lys683Thr	missense variant	-	NC_000010.11:g.103603170T>G	ExAC,gnomAD
rs761742438	p.Asn684Thr	missense variant	-	NC_000010.11:g.103603167T>G	ExAC,gnomAD
rs1414263919	p.His685Gln	missense variant	-	NC_000010.11:g.103603163G>C	gnomAD
rs774410030	p.His685Tyr	missense variant	-	NC_000010.11:g.103603165G>A	ExAC,TOPMed,gnomAD
rs768772475	p.Ser686Phe	missense variant	-	NC_000010.11:g.103603161G>A	ExAC,gnomAD
rs1314818700	p.Ser687Leu	missense variant	-	NC_000010.11:g.103603158G>A	gnomAD
rs1247533067	p.Phe690Leu	missense variant	-	NC_000010.11:g.103603148A>C	gnomAD
rs368518233	p.Ser691Phe	missense variant	-	NC_000010.11:g.103603146G>A	ESP,ExAC,TOPMed,gnomAD
rs1484164452	p.Ser692Ala	missense variant	-	NC_000010.11:g.103603144A>C	gnomAD
rs1248707588	p.Ser692Leu	missense variant	-	NC_000010.11:g.103603143G>A	gnomAD
NCI-TCGA novel	p.Ser692Ter	stop gained	-	NC_000010.11:g.103603143G>C	NCI-TCGA
rs372307133	p.Ile694Thr	missense variant	-	NC_000010.11:g.103603137A>G	ESP
NCI-TCGA novel	p.Ile694Ser	missense variant	-	NC_000010.11:g.103603137A>C	NCI-TCGA
NCI-TCGA novel	p.Ile694Val	missense variant	-	NC_000010.11:g.103603138T>C	NCI-TCGA
rs780857190	p.Ile696Val	missense variant	-	NC_000010.11:g.103603132T>C	ExAC,TOPMed,gnomAD
rs748558870	p.Cys700Tyr	missense variant	-	NC_000010.11:g.103603119C>T	ExAC,gnomAD
rs779374922	p.Cys701Phe	missense variant	-	NC_000010.11:g.103603116C>A	ExAC
rs755571944	p.Ser702Cys	missense variant	-	NC_000010.11:g.103603113G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser702Tyr	missense variant	-	NC_000010.11:g.103603113G>T	NCI-TCGA
rs1362835722	p.Ser703Phe	missense variant	-	NC_000010.11:g.103603110G>A	TOPMed
rs754305451	p.Ser704Phe	missense variant	-	NC_000010.11:g.103603107G>A	ExAC,TOPMed,gnomAD
rs754305451	p.Ser704Cys	missense variant	-	NC_000010.11:g.103603107G>C	ExAC,TOPMed,gnomAD
rs1381889407	p.Ser705Phe	missense variant	-	NC_000010.11:g.103603104G>A	gnomAD
rs1381889407	p.Ser705Tyr	missense variant	-	NC_000010.11:g.103603104G>T	gnomAD
rs1301618974	p.Ser706Ala	missense variant	-	NC_000010.11:g.103603102A>C	gnomAD
rs368378897	p.Ser708Phe	missense variant	-	NC_000010.11:g.103603095G>A	ESP,TOPMed
rs780122955	p.Ser710Pro	missense variant	-	NC_000010.11:g.103603090A>G	ExAC,TOPMed,gnomAD
rs750632370	p.Thr714Ile	missense variant	-	NC_000010.11:g.103603077G>A	ExAC,TOPMed,gnomAD
rs761689383	p.Ser715Arg	missense variant	-	NC_000010.11:g.103603073A>C	ExAC,gnomAD
rs142806486	p.Asp717Asn	missense variant	-	NC_000010.11:g.103603069C>T	ESP,ExAC,TOPMed,gnomAD
rs775317115	p.Pro720Ser	missense variant	-	NC_000010.11:g.103603060G>A	ExAC
rs776241188	p.Arg721Pro	missense variant	-	NC_000010.11:g.103603056C>G	ExAC,TOPMed,gnomAD
rs776241188	p.Arg721Leu	missense variant	-	NC_000010.11:g.103603056C>A	ExAC,TOPMed,gnomAD
rs776241188	p.Arg721His	missense variant	-	NC_000010.11:g.103603056C>T	ExAC,TOPMed,gnomAD
rs769310841	p.Arg721Cys	missense variant	-	NC_000010.11:g.103603057G>A	ExAC,TOPMed,gnomAD
rs748503679	p.Ser724Leu	missense variant	-	NC_000010.11:g.103603047G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser724Pro	missense variant	-	NC_000010.11:g.103603048A>G	NCI-TCGA
COSM3433883	p.Asp725Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603045C>T	NCI-TCGA Cosmic
rs371681573	p.Ala726Thr	missense variant	-	NC_000010.11:g.103603042C>T	ESP,ExAC,TOPMed,gnomAD
rs1319459698	p.Gly727Asp	missense variant	-	NC_000010.11:g.103603038C>T	TOPMed,gnomAD
rs756197834	p.Arg729His	missense variant	-	NC_000010.11:g.103603032C>T	ExAC,TOPMed,gnomAD
rs74788555	p.Arg729Cys	missense variant	-	NC_000010.11:g.103603033G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6128101	p.Gly730Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603030C>A	NCI-TCGA Cosmic
rs781560745	p.Gly730Ser	missense variant	-	NC_000010.11:g.103603030C>T	ExAC,TOPMed,gnomAD
rs757488196	p.Gly730Asp	missense variant	-	NC_000010.11:g.103603029C>T	ExAC,gnomAD
rs987762902	p.Thr731Ile	missense variant	-	NC_000010.11:g.103603026G>A	TOPMed
rs751847787	p.Pro732His	missense variant	-	NC_000010.11:g.103603023G>T	ExAC,TOPMed,gnomAD
rs762690039	p.Lys733Asn	missense variant	-	NC_000010.11:g.103603019C>A	ExAC,TOPMed,gnomAD
rs762690039	p.Lys733Asn	missense variant	-	NC_000010.11:g.103603019C>G	ExAC,TOPMed,gnomAD
rs763904336	p.Lys733Gln	missense variant	-	NC_000010.11:g.103603021T>G	ExAC,gnomAD
rs1375558676	p.Asp739Asn	missense variant	-	NC_000010.11:g.103603003C>T	gnomAD
rs1375558676	p.Asp739Tyr	missense variant	-	NC_000010.11:g.103603003C>A	gnomAD
rs759030837	p.Asp739Ala	missense variant	-	NC_000010.11:g.103603002T>G	ExAC,gnomAD
rs1267594370	p.Ala740Ser	missense variant	-	NC_000010.11:g.103603000C>A	gnomAD
rs765874609	p.Ala742Val	missense variant	-	NC_000010.11:g.103602993G>A	ExAC,gnomAD
rs200036703	p.Asn743Lys	missense variant	-	NC_000010.11:g.103602989G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772872849	p.Ala744Thr	missense variant	-	NC_000010.11:g.103602988C>T	ExAC,TOPMed,gnomAD
rs1409401302	p.Gly745Arg	missense variant	-	NC_000010.11:g.103602985C>G	TOPMed
rs150357234	p.Thr747Ile	missense variant	-	NC_000010.11:g.103602978G>A	ESP,ExAC,TOPMed,gnomAD
rs776052876	p.Ser748Thr	missense variant	-	NC_000010.11:g.103602976A>T	ExAC,TOPMed,gnomAD
rs370188836	p.Cys749Tyr	missense variant	-	NC_000010.11:g.103602972C>T	ESP,ExAC,TOPMed
rs746382788	p.Pro750Thr	missense variant	-	NC_000010.11:g.103602970G>T	ExAC,gnomAD
rs746382788	p.Pro750Ala	missense variant	-	NC_000010.11:g.103602970G>C	ExAC,gnomAD
rs537290745	p.Arg751Gln	missense variant	-	NC_000010.11:g.103602966C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs537290745	p.Arg751Pro	missense variant	-	NC_000010.11:g.103602966C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs937413307	p.Ala752Gly	missense variant	-	NC_000010.11:g.103602963G>C	gnomAD
rs937413307	p.Ala752Asp	missense variant	-	NC_000010.11:g.103602963G>T	gnomAD
rs200758401	p.Ala752Thr	missense variant	-	NC_000010.11:g.103602964C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758192955	p.Ser755Leu	missense variant	-	NC_000010.11:g.103602954G>A	ExAC,TOPMed,gnomAD
rs758192955	p.Ser755Trp	missense variant	-	NC_000010.11:g.103602954G>C	ExAC,TOPMed,gnomAD
rs1456502400	p.Val756Ile	missense variant	-	NC_000010.11:g.103602952C>T	gnomAD
rs368491495	p.Arg757Trp	missense variant	-	NC_000010.11:g.103602949G>A	ESP,ExAC,TOPMed,gnomAD
rs140391413	p.Arg757Gln	missense variant	-	NC_000010.11:g.103602948C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro760Ser	missense variant	-	NC_000010.11:g.103602940G>A	NCI-TCGA
rs1431043329	p.Phe761Leu	missense variant	-	NC_000010.11:g.103602935G>T	gnomAD
rs1405737727	p.Leu762Val	missense variant	-	NC_000010.11:g.103602934G>C	gnomAD
rs765825254	p.Arg764Ter	stop gained	-	NC_000010.11:g.103602928G>A	ExAC,gnomAD
rs371640427	p.Arg764Gln	missense variant	-	NC_000010.11:g.103602927C>T	ESP,ExAC,TOPMed,gnomAD
rs151231944	p.Ala765Gly	missense variant	-	NC_000010.11:g.103602924G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767134244	p.Ser767Leu	missense variant	-	NC_000010.11:g.103602918G>A	ExAC,TOPMed,gnomAD
rs751083934	p.Gln770Glu	missense variant	-	NC_000010.11:g.103602910G>C	TOPMed
rs1257007198	p.Glu771Ala	missense variant	-	NC_000010.11:g.103602906T>G	gnomAD
NCI-TCGA novel	p.Asp774Val	missense variant	-	NC_000010.11:g.103602897T>A	NCI-TCGA
rs1233915900	p.Ile775Val	missense variant	-	NC_000010.11:g.103602895T>C	TOPMed
rs1235921376	p.Ser776Arg	missense variant	-	NC_000010.11:g.103602892T>G	TOPMed,gnomAD
rs1310623410	p.Leu778Ser	missense variant	-	NC_000010.11:g.103602885A>G	gnomAD
rs775652634	p.Arg779Gln	missense variant	-	NC_000010.11:g.103602882C>T	ExAC,TOPMed,gnomAD
rs775652634	p.Arg779Leu	missense variant	-	NC_000010.11:g.103602882C>A	ExAC,TOPMed,gnomAD
rs866660950	p.Arg779Trp	missense variant	-	NC_000010.11:g.103602883G>A	-
rs746331786	p.Arg780Leu	missense variant	-	NC_000010.11:g.103602879C>A	ExAC,TOPMed,gnomAD
rs770297794	p.Arg780Cys	missense variant	-	NC_000010.11:g.103602880G>A	ExAC,gnomAD
rs746331786	p.Arg780His	missense variant	-	NC_000010.11:g.103602879C>T	ExAC,TOPMed,gnomAD
rs1015145135	p.Gln781His	missense variant	-	NC_000010.11:g.103602875C>G	TOPMed,gnomAD
rs144157162	p.Pro784Ser	missense variant	-	NC_000010.11:g.103602868G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1043570658	p.Thr785Ile	missense variant	-	NC_000010.11:g.103602864G>A	TOPMed,gnomAD
rs140520112	p.Gln787His	missense variant	-	NC_000010.11:g.103602857C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748404899	p.Arg789His	missense variant	-	NC_000010.11:g.103602852C>T	ExAC,TOPMed,gnomAD
rs200938753	p.Arg789Cys	missense variant	-	NC_000010.11:g.103602853G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748404899	p.Arg789Leu	missense variant	-	NC_000010.11:g.103602852C>A	ExAC,TOPMed,gnomAD
rs549957850	p.Gly790Val	missense variant	-	NC_000010.11:g.103602849C>A	1000Genomes,ExAC,gnomAD
rs549957850	p.Gly790Glu	missense variant	-	NC_000010.11:g.103602849C>T	1000Genomes,ExAC,gnomAD
rs531825547	p.Gly791Glu	missense variant	-	NC_000010.11:g.103602846C>T	1000Genomes,ExAC,gnomAD
rs370445275	p.Leu792His	missense variant	-	NC_000010.11:g.103602843A>T	ESP,ExAC,TOPMed,gnomAD
rs766343336	p.Leu792Val	missense variant	-	NC_000010.11:g.103602844G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu792Ile	missense variant	-	NC_000010.11:g.103602844G>T	NCI-TCGA
rs767058255	p.Gly794Val	missense variant	-	NC_000010.11:g.103602837C>A	ExAC,gnomAD
rs199845605	p.Ser795Phe	missense variant	-	NC_000010.11:g.103602834G>A	ExAC,gnomAD
rs751249053	p.Lys796Asn	missense variant	-	NC_000010.11:g.103602830C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys796Arg	missense variant	-	NC_000010.11:g.103602831T>C	NCI-TCGA
rs147580812	p.Ser797Gly	missense variant	-	NC_000010.11:g.103602829T>C	ExAC,TOPMed,gnomAD
COSM914430	p.Glu798Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602824C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu798Lys	missense variant	-	NC_000010.11:g.103602826C>T	NCI-TCGA
rs760021106	p.Asp799Asn	missense variant	-	NC_000010.11:g.103602823C>T	ExAC,gnomAD
rs765045700	p.Ser800Pro	missense variant	-	NC_000010.11:g.103602820A>G	ExAC,TOPMed,gnomAD
rs564423308	p.Ser800Leu	missense variant	-	NC_000010.11:g.103602819G>A	1000Genomes,TOPMed,gnomAD
rs1252421492	p.Pro803Thr	missense variant	-	NC_000010.11:g.103602811G>T	TOPMed,gnomAD
rs200869697	p.Pro804Leu	missense variant	-	NC_000010.11:g.103602807G>A	ExAC,TOPMed,gnomAD
rs772204272	p.Gln805Ter	stop gained	-	NC_000010.11:g.103602805G>A	ExAC,TOPMed,gnomAD
rs772204272	p.Gln805Lys	missense variant	-	NC_000010.11:g.103602805G>T	ExAC,TOPMed,gnomAD
rs1167375308	p.Thr806Met	missense variant	-	NC_000010.11:g.103602801G>A	TOPMed,gnomAD
rs1168220305	p.Thr806Ser	missense variant	-	NC_000010.11:g.103602802T>A	TOPMed
rs145150116	p.Glu809Lys	missense variant	-	NC_000010.11:g.103602793C>T	ESP,ExAC,TOPMed,gnomAD
rs368830374	p.Ala810Ser	missense variant	-	NC_000010.11:g.103602790C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro811Ser	missense variant	-	NC_000010.11:g.103602787G>A	NCI-TCGA
rs1325420705	p.Ser812Gly	missense variant	-	NC_000010.11:g.103602784T>C	TOPMed
rs1257317325	p.Glu813Gln	missense variant	-	NC_000010.11:g.103602781C>G	gnomAD
rs750389881	p.Gly814Glu	missense variant	-	NC_000010.11:g.103602777C>T	ExAC,gnomAD
rs74816343	p.Gly814Arg	missense variant	-	NC_000010.11:g.103602778C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1357216583	p.Ser818Thr	missense variant	-	NC_000010.11:g.103602765C>G	gnomAD
rs751143465	p.Ser820Cys	missense variant	-	NC_000010.11:g.103602759G>C	ExAC,gnomAD
rs1288697872	p.Asp821Asn	missense variant	-	NC_000010.11:g.103602757C>T	TOPMed,gnomAD
rs1246273846	p.Leu822Phe	missense variant	-	NC_000010.11:g.103602754G>A	TOPMed
rs754318200	p.Thr824Pro	missense variant	-	NC_000010.11:g.103602748T>G	ExAC,gnomAD
rs766851049	p.Leu825Pro	missense variant	-	NC_000010.11:g.103602744A>G	ExAC,gnomAD
COSM683467	p.Ala827Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602739C>T	NCI-TCGA Cosmic
rs761026913	p.Ala827Asp	missense variant	-	NC_000010.11:g.103602738G>T	ExAC,TOPMed,gnomAD
rs773787673	p.Pro831Gln	missense variant	-	NC_000010.11:g.103602726G>T	ExAC,gnomAD
rs1456796388	p.Cys832Ser	missense variant	-	NC_000010.11:g.103602724A>T	gnomAD
rs772003670	p.Cys832Tyr	missense variant	-	NC_000010.11:g.103602723C>T	ExAC,TOPMed,gnomAD
COSM3806379	p.Lys835Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602713C>G	NCI-TCGA Cosmic
COSM683468	p.Glu837Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602707T>G	NCI-TCGA Cosmic
rs1183255272	p.Glu839Gln	missense variant	-	NC_000010.11:g.103602703C>G	gnomAD
NCI-TCGA novel	p.Glu839Ter	stop gained	-	NC_000010.11:g.103602703C>A	NCI-TCGA
rs1473782576	p.Gly840Arg	missense variant	-	NC_000010.11:g.103602700C>G	gnomAD
rs1249869892	p.Gly840Ala	missense variant	-	NC_000010.11:g.103602699C>G	gnomAD
rs370213162	p.Pro841Leu	missense variant	-	NC_000010.11:g.103602696G>A	ESP,ExAC,TOPMed,gnomAD
rs774534870	p.Thr843Ala	missense variant	-	NC_000010.11:g.103602691T>C	ExAC,gnomAD
rs200823844	p.Ser844Leu	missense variant	-	NC_000010.11:g.103602687G>A	ExAC,TOPMed,gnomAD
rs1334020584	p.Met846Leu	missense variant	-	NC_000010.11:g.103602682T>A	TOPMed,gnomAD
rs1334020584	p.Met846Val	missense variant	-	NC_000010.11:g.103602682T>C	TOPMed,gnomAD
rs1268697641	p.Thr847Pro	missense variant	-	NC_000010.11:g.103602679T>G	TOPMed,gnomAD
rs1383589003	p.Cys848Trp	missense variant	-	NC_000010.11:g.103602674G>C	TOPMed
COSM6064753	p.Ser849Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602672C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser849Asn	missense variant	-	NC_000010.11:g.103602672C>T	NCI-TCGA
rs764554398	p.Ala850Thr	missense variant	-	NC_000010.11:g.103602670C>T	ExAC,TOPMed,gnomAD
rs764554398	p.Ala850Ser	missense variant	-	NC_000010.11:g.103602670C>A	ExAC,TOPMed,gnomAD
rs781233284	p.Tyr851Cys	missense variant	-	NC_000010.11:g.103602666T>C	ExAC,gnomAD
rs756702640	p.Lys853Asn	missense variant	-	NC_000010.11:g.103602659C>G	ExAC,TOPMed,gnomAD
rs1439522201	p.Asp856Tyr	missense variant	-	NC_000010.11:g.103602652C>A	gnomAD
rs375509622	p.Asp856Ala	missense variant	-	NC_000010.11:g.103602651T>G	ESP,ExAC,gnomAD
rs998693437	p.Ser857Trp	missense variant	-	NC_000010.11:g.103602648G>C	TOPMed
rs777567669	p.Glu858Lys	missense variant	-	NC_000010.11:g.103602646C>T	ExAC,gnomAD
rs1259530747	p.Ile859Val	missense variant	-	NC_000010.11:g.103602643T>C	TOPMed
rs750862901	p.Ala863Glu	missense variant	-	NC_000010.11:g.103602630G>T	ExAC,TOPMed,gnomAD
rs750862901	p.Ala863Val	missense variant	-	NC_000010.11:g.103602630G>A	ExAC,TOPMed,gnomAD
rs766798828	p.Ala863Pro	missense variant	-	NC_000010.11:g.103602631C>G	ExAC,TOPMed,gnomAD
rs766798828	p.Ala863Thr	missense variant	-	NC_000010.11:g.103602631C>T	ExAC,TOPMed,gnomAD
rs144776136	p.Val865Met	missense variant	-	NC_000010.11:g.103602625C>T	ESP,ExAC,TOPMed,gnomAD
rs763115087	p.Val869Ala	missense variant	-	NC_000010.11:g.103602612A>G	ExAC,TOPMed,gnomAD
rs1051725499	p.Val869Met	missense variant	-	NC_000010.11:g.103602613C>T	TOPMed,gnomAD
rs775722872	p.Gly876Arg	missense variant	-	NC_000010.11:g.103602592C>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr879Phe	missense variant	-	NC_000010.11:g.103602582T>A	NCI-TCGA
NCI-TCGA novel	p.Tyr879SerPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.103602582_103602583insG	NCI-TCGA
rs769448356	p.Tyr879His	missense variant	-	NC_000010.11:g.103602583A>G	ExAC,gnomAD
rs371163946	p.Val880Met	missense variant	-	NC_000010.11:g.103602580C>T	ESP,ExAC,TOPMed,gnomAD
rs1343975196	p.Phe882Ile	missense variant	-	NC_000010.11:g.103602574A>T	gnomAD
rs1318030195	p.Gly883Arg	missense variant	-	NC_000010.11:g.103602571C>T	gnomAD
rs1415409676	p.Gly883Glu	missense variant	-	NC_000010.11:g.103602570C>T	gnomAD
rs776424440	p.Glu884Lys	missense variant	-	NC_000010.11:g.103602568C>T	ExAC
NCI-TCGA novel	p.Leu885Arg	missense variant	-	NC_000010.11:g.103602564A>C	NCI-TCGA
rs1020623940	p.Ala889Thr	missense variant	-	NC_000010.11:g.103602553C>T	TOPMed,gnomAD
rs777355965	p.Pro890Leu	missense variant	-	NC_000010.11:g.103602549G>A	ExAC,gnomAD
rs1251641633	p.Ser891Pro	missense variant	-	NC_000010.11:g.103602547A>G	gnomAD
rs893694799	p.Tyr893Cys	missense variant	-	NC_000010.11:g.103602540T>C	TOPMed,gnomAD
rs758001725	p.Val895Leu	missense variant	-	NC_000010.11:g.103602535C>A	ExAC,TOPMed,gnomAD
rs758001725	p.Val895Met	missense variant	-	NC_000010.11:g.103602535C>T	ExAC,TOPMed,gnomAD
rs758001725	p.Val895Leu	missense variant	-	NC_000010.11:g.103602535C>G	ExAC,TOPMed,gnomAD
rs1276057685	p.Asp897Glu	missense variant	-	NC_000010.11:g.103602527A>T	gnomAD
rs778746354	p.Asp897Asn	missense variant	-	NC_000010.11:g.103602529C>T	ExAC,TOPMed,gnomAD
rs1456864379	p.Glu898Gly	missense variant	-	NC_000010.11:g.103602525T>C	gnomAD
NCI-TCGA novel	p.Glu898Lys	missense variant	-	NC_000010.11:g.103602526C>T	NCI-TCGA
rs1342229195	p.Asn899Lys	missense variant	-	NC_000010.11:g.103602521G>C	gnomAD
rs1233166415	p.Asn899Ser	missense variant	-	NC_000010.11:g.103602522T>C	TOPMed,gnomAD
rs756410726	p.Glu900Lys	missense variant	-	NC_000010.11:g.103602520C>T	ExAC,TOPMed,gnomAD
rs756410726	p.Glu900Gln	missense variant	-	NC_000010.11:g.103602520C>G	ExAC,TOPMed,gnomAD
rs750858104	p.Pro902Arg	missense variant	-	NC_000010.11:g.103602513G>C	ExAC,gnomAD
rs540725379	p.Asp903His	missense variant	-	NC_000010.11:g.103602511C>G	1000Genomes,ExAC,gnomAD
rs199832355	p.Pro904Arg	missense variant	-	NC_000010.11:g.103602507G>C	1000Genomes,ExAC,gnomAD
rs1361331813	p.Pro904Ser	missense variant	-	NC_000010.11:g.103602508G>A	gnomAD
rs775670087	p.Gly906Asp	missense variant	-	NC_000010.11:g.103602501C>T	ExAC,gnomAD
rs372246713	p.Lys907Glu	missense variant	-	NC_000010.11:g.103602499T>C	ESP,ExAC,TOPMed,gnomAD
rs1426824183	p.Asp910Glu	missense variant	-	NC_000010.11:g.103602488G>T	gnomAD
rs776423838	p.Pro913Ser	missense variant	-	NC_000010.11:g.103602481G>A	ExAC,gnomAD
rs770642110	p.Pro913His	missense variant	-	NC_000010.11:g.103602480G>T	ExAC,gnomAD
rs201439736	p.Ala914Ser	missense variant	-	NC_000010.11:g.103602478C>A	ESP,ExAC,TOPMed,gnomAD
rs201439736	p.Ala914Thr	missense variant	-	NC_000010.11:g.103602478C>T	ESP,ExAC,TOPMed,gnomAD
rs907916733	p.Lys915Asn	missense variant	-	NC_000010.11:g.103602473C>A	TOPMed
rs907916733	p.Lys915Asn	missense variant	-	NC_000010.11:g.103602473C>G	TOPMed
COSM271963	p.Gly916Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602471C>T	NCI-TCGA Cosmic
rs969758090	p.Gly916Ser	missense variant	-	NC_000010.11:g.103602472C>T	TOPMed,gnomAD
rs543627417	p.Asn919Lys	missense variant	-	NC_000010.11:g.103602461G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM4011409	p.Asn919Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602462T>C	NCI-TCGA Cosmic
rs371255618	p.Glu920Lys	missense variant	-	NC_000010.11:g.103602460C>T	ESP,ExAC,TOPMed,gnomAD
rs371255618	p.Glu920Gln	missense variant	-	NC_000010.11:g.103602460C>G	ESP,ExAC,TOPMed,gnomAD
rs1305961804	p.Gly921Val	missense variant	-	NC_000010.11:g.103602456C>A	TOPMed,gnomAD
rs1305961804	p.Gly921Asp	missense variant	-	NC_000010.11:g.103602456C>T	TOPMed,gnomAD
rs4917396	p.Lys922Asn	missense variant	-	NC_000010.11:g.103602452T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1291774298	p.Asp924His	missense variant	-	NC_000010.11:g.103602448C>G	gnomAD
rs1291774298	p.Asp924Tyr	missense variant	-	NC_000010.11:g.103602448C>A	gnomAD
rs1414555899	p.Ser925Ile	missense variant	-	NC_000010.11:g.103602444C>A	gnomAD
rs1337306228	p.Ile929Thr	missense variant	-	NC_000010.11:g.103602432A>G	gnomAD
rs368480262	p.Ile929Met	missense variant	-	NC_000010.11:g.103602431G>C	1000Genomes,ExAC,gnomAD
rs778304934	p.Glu930Lys	missense variant	-	NC_000010.11:g.103602430C>T	ExAC,TOPMed,gnomAD
rs1354047753	p.Arg931Gly	missense variant	-	NC_000010.11:g.103602427T>C	gnomAD
rs752844276	p.Arg932His	missense variant	-	NC_000010.11:g.103602423C>T	ExAC,TOPMed,gnomAD
rs201405675	p.Val933Phe	missense variant	-	NC_000010.11:g.103602421C>A	ExAC,TOPMed,gnomAD
rs201405675	p.Val933Ile	missense variant	-	NC_000010.11:g.103602421C>T	ExAC,TOPMed,gnomAD
rs1031587899	p.Gln934Arg	missense variant	-	NC_000010.11:g.103602417T>C	TOPMed,gnomAD
rs999203137	p.Leu936Met	missense variant	-	NC_000010.11:g.103602412G>T	TOPMed,gnomAD
rs773259897	p.Val939Ile	missense variant	-	NC_000010.11:g.103602403C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn940Lys	missense variant	-	NC_000010.11:g.103602398G>T	NCI-TCGA
rs201840553	p.Gln941His	missense variant	-	NC_000010.11:g.103602395C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1223167738	p.Ser942Arg	missense variant	-	NC_000010.11:g.103602392G>T	gnomAD
rs773844696	p.Ala945Thr	missense variant	-	NC_000010.11:g.103602385C>T	ExAC,gnomAD
rs1315978128	p.Ala945Asp	missense variant	-	NC_000010.11:g.103602384G>T	TOPMed
rs768074717	p.Thr946Met	missense variant	-	NC_000010.11:g.103602381G>A	ExAC,TOPMed,gnomAD
rs768074717	p.Thr946Lys	missense variant	-	NC_000010.11:g.103602381G>T	ExAC,TOPMed,gnomAD
rs1290409624	p.Pro947Leu	missense variant	-	NC_000010.11:g.103602378G>A	gnomAD
rs1290409624	p.Pro947Arg	missense variant	-	NC_000010.11:g.103602378G>C	gnomAD
rs889168754	p.Ile949Met	missense variant	-	NC_000010.11:g.103602371G>C	TOPMed
rs1339935968	p.Ile949Thr	missense variant	-	NC_000010.11:g.103602372A>G	TOPMed
rs779614766	p.Pro950Thr	missense variant	-	NC_000010.11:g.103602370G>T	ExAC,gnomAD
rs747434163	p.Pro954Arg	missense variant	-	NC_000010.11:g.103602357G>C	ExAC,gnomAD
rs138239379	p.Gly955Trp	missense variant	-	NC_000010.11:g.103602355C>A	ESP,ExAC,TOPMed,gnomAD
rs138239379	p.Gly955Arg	missense variant	-	NC_000010.11:g.103602355C>T	ESP,ExAC,TOPMed,gnomAD
rs778997216	p.Gly956Ala	missense variant	-	NC_000010.11:g.103602351C>G	ExAC,gnomAD
rs142016930	p.Gly958Ser	missense variant	-	NC_000010.11:g.103602346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1168718265	p.Gly958Asp	missense variant	-	NC_000010.11:g.103602345C>T	TOPMed
rs142016930	p.Gly958Cys	missense variant	-	NC_000010.11:g.103602346C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1192369048	p.Thr960Ile	missense variant	-	NC_000010.11:g.103602339G>A	gnomAD
rs766754098	p.Ser961Leu	missense variant	-	NC_000010.11:g.103602336G>A	ExAC,gnomAD
rs1213660252	p.Gly962Asp	missense variant	-	NC_000010.11:g.103602333C>T	gnomAD
rs750309437	p.Thr963Ala	missense variant	-	NC_000010.11:g.103602331T>C	ExAC,gnomAD
rs1372844934	p.Pro964Ala	missense variant	-	NC_000010.11:g.103602328G>C	TOPMed
rs767423459	p.Ala965Glu	missense variant	-	NC_000010.11:g.103602324G>T	ExAC,TOPMed,gnomAD
rs767423459	p.Ala965Val	missense variant	-	NC_000010.11:g.103602324G>A	ExAC,TOPMed,gnomAD
rs762420881	p.Met968Leu	missense variant	-	NC_000010.11:g.103602316T>G	ExAC,gnomAD
COSM1345607	p.Arg969Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602311C>A	NCI-TCGA Cosmic
rs775197757	p.Arg969Lys	missense variant	-	NC_000010.11:g.103602312C>T	ExAC,gnomAD
rs1034023749	p.Gly971Arg	missense variant	-	NC_000010.11:g.103602307C>T	TOPMed,gnomAD
COSM6064754	p.Val972Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602304C>A	NCI-TCGA Cosmic
rs769506617	p.Arg973Trp	missense variant	-	NC_000010.11:g.103602301G>A	ExAC,TOPMed,gnomAD
rs745528071	p.Arg973Gln	missense variant	-	NC_000010.11:g.103602300C>T	ExAC,TOPMed,gnomAD
rs377387586	p.Val975Gly	missense variant	-	NC_000010.11:g.103602294A>C	ESP,ExAC,TOPMed,gnomAD
rs377387586	p.Val975Ala	missense variant	-	NC_000010.11:g.103602294A>G	ESP,ExAC,TOPMed,gnomAD
rs527994174	p.Ala976Ser	missense variant	-	NC_000010.11:g.103602292C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373805914	p.Ala976Val	missense variant	-	NC_000010.11:g.103602291G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756338086	p.Pro979Thr	missense variant	-	NC_000010.11:g.103602283G>T	ExAC,gnomAD
rs1203707949	p.Pro979Leu	missense variant	-	NC_000010.11:g.103602282G>A	TOPMed
rs756338086	p.Pro979Ser	missense variant	-	NC_000010.11:g.103602283G>A	ExAC,gnomAD
rs1203701944	p.Ser981Leu	missense variant	-	NC_000010.11:g.103602276G>A	gnomAD
rs915654185	p.Phe983Leu	missense variant	-	NC_000010.11:g.103602269A>C	TOPMed
rs751492735	p.Val984Ala	missense variant	-	NC_000010.11:g.103602267A>G	ExAC,gnomAD
rs757043804	p.Val984Met	missense variant	-	NC_000010.11:g.103602268C>T	ExAC,gnomAD
rs757043804	p.Val984Leu	missense variant	-	NC_000010.11:g.103602268C>A	ExAC,gnomAD
rs886507644	p.Ser985Tyr	missense variant	-	NC_000010.11:g.103602264G>T	gnomAD
rs763997405	p.Pro986Leu	missense variant	-	NC_000010.11:g.103602261G>A	ExAC,TOPMed,gnomAD
rs1302705445	p.Pro986Ser	missense variant	-	NC_000010.11:g.103602262G>A	TOPMed,gnomAD
rs1196315274	p.Pro988Ser	missense variant	-	NC_000010.11:g.103602256G>A	TOPMed
rs1427730888	p.Lys989Asn	missense variant	-	NC_000010.11:g.103602251C>G	TOPMed
rs774799645	p.Asp990Val	missense variant	-	NC_000010.11:g.103602249T>A	ExAC,gnomAD
rs938345700	p.Asn991Asp	missense variant	-	NC_000010.11:g.103602247T>C	TOPMed
rs764743915	p.Asn992Ile	missense variant	-	NC_000010.11:g.103602243T>A	ExAC,TOPMed,gnomAD
rs924301774	p.Asn992Tyr	missense variant	-	NC_000010.11:g.103602244T>A	TOPMed,gnomAD
rs968999172	p.Ser994Pro	missense variant	-	NC_000010.11:g.103602238A>G	TOPMed
rs373175288	p.Ala996Thr	missense variant	-	NC_000010.11:g.103602232C>T	ESP,ExAC,TOPMed,gnomAD
rs146203698	p.Arg998Gln	missense variant	-	NC_000010.11:g.103602225C>T	ESP,ExAC,TOPMed,gnomAD
rs561745856	p.Arg998Trp	missense variant	-	NC_000010.11:g.103602226G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146203698	p.Arg998Leu	missense variant	-	NC_000010.11:g.103602225C>A	ESP,ExAC,TOPMed,gnomAD
rs749805561	p.Arg999Lys	missense variant	-	NC_000010.11:g.103602222C>T	ExAC,gnomAD
rs543566354	p.Arg999Ser	missense variant	-	NC_000010.11:g.103602221C>G	1000Genomes,ExAC,gnomAD
rs781615764	p.Glu1001Lys	missense variant	-	NC_000010.11:g.103602217C>T	ExAC,TOPMed,gnomAD
rs781615764	p.Glu1001Ter	stop gained	-	NC_000010.11:g.103602217C>A	ExAC,TOPMed,gnomAD
rs1285159868	p.Ser1002Leu	missense variant	-	NC_000010.11:g.103602213G>A	TOPMed
rs757063786	p.Thr1004Met	missense variant	-	NC_000010.11:g.103602207G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1009Phe	missense variant	-	NC_000010.11:g.103602193G>A	NCI-TCGA
COSM3433880	p.Arg1010Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103602190G>A	NCI-TCGA Cosmic
rs576268163	p.Arg1010Gln	missense variant	-	NC_000010.11:g.103602189C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1321559	p.Gly1011Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602187C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1011Ser	missense variant	-	NC_000010.11:g.103602187C>T	NCI-TCGA
rs75922594	p.Val1012Ile	missense variant	-	NC_000010.11:g.103602184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776241091	p.Arg1013Gln	missense variant	-	NC_000010.11:g.103602180C>T	ExAC,TOPMed,gnomAD
rs776241091	p.Arg1013Leu	missense variant	-	NC_000010.11:g.103602180C>A	ExAC,TOPMed,gnomAD
rs1030401662	p.Arg1013Ter	stop gained	-	NC_000010.11:g.103602181G>A	TOPMed,gnomAD
rs766002032	p.Arg1014Gln	missense variant	-	NC_000010.11:g.103602177C>T	ExAC,TOPMed,gnomAD
rs1431104402	p.Arg1014Trp	missense variant	-	NC_000010.11:g.103602178G>A	gnomAD
rs1461878903	p.Ser1016Tyr	missense variant	-	NC_000010.11:g.103602171G>T	TOPMed,gnomAD
rs762231638	p.Ser1016Ala	missense variant	-	NC_000010.11:g.103602172A>C	ExAC,gnomAD
rs998038121	p.Ser1017Thr	missense variant	-	NC_000010.11:g.103602169A>T	TOPMed,gnomAD
rs998038121	p.Ser1017Pro	missense variant	-	NC_000010.11:g.103602169A>G	TOPMed,gnomAD
rs769077940	p.Ser1019Arg	missense variant	-	NC_000010.11:g.103602161G>C	ExAC,TOPMed,gnomAD
rs776180564	p.Thr1020Ser	missense variant	-	NC_000010.11:g.103602159G>C	ExAC,TOPMed,gnomAD
rs776180564	p.Thr1020Ile	missense variant	-	NC_000010.11:g.103602159G>A	ExAC,TOPMed,gnomAD
rs746003902	p.Ala1021Val	missense variant	-	NC_000010.11:g.103602156G>A	ExAC,gnomAD
rs746003902	p.Ala1021Gly	missense variant	-	NC_000010.11:g.103602156G>C	ExAC,gnomAD
rs79061932	p.Arg1022Gly	missense variant	-	NC_000010.11:g.103602154G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79061932	p.Arg1022Cys	missense variant	-	NC_000010.11:g.103602154G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369836291	p.Arg1022His	missense variant	-	NC_000010.11:g.103602153C>T	ESP,ExAC,TOPMed,gnomAD
rs145059341	p.Ala1024Thr	missense variant	-	NC_000010.11:g.103602148C>T	ESP,ExAC,TOPMed,gnomAD
rs752596549	p.Ala1026Thr	missense variant	-	NC_000010.11:g.103602142C>T	ExAC,TOPMed,gnomAD
rs778867319	p.Ala1026Val	missense variant	-	NC_000010.11:g.103602141G>A	ExAC,gnomAD
rs1327560167	p.Glu1027Gly	missense variant	-	NC_000010.11:g.103602138T>C	gnomAD
rs765916483	p.Glu1027Lys	missense variant	-	NC_000010.11:g.103602139C>T	ExAC,TOPMed,gnomAD
rs1392063287	p.Ala1028Val	missense variant	-	NC_000010.11:g.103602135G>A	gnomAD
rs553818409	p.Arg1031His	missense variant	-	NC_000010.11:g.103602126C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs553818409	p.Arg1031Leu	missense variant	-	NC_000010.11:g.103602126C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs74661743	p.Arg1031Cys	missense variant	-	NC_000010.11:g.103602127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142382313	p.Ala1033Val	missense variant	-	NC_000010.11:g.103602120G>A	ESP,ExAC,TOPMed,gnomAD
rs1362282270	p.Ala1033Ser	missense variant	-	NC_000010.11:g.103602121C>A	gnomAD
rs371597796	p.Glu1034Lys	missense variant	-	NC_000010.11:g.103602118C>T	ESP,ExAC,TOPMed,gnomAD
rs760123155	p.Arg1035Trp	missense variant	-	NC_000010.11:g.103602115G>A	ExAC,TOPMed,gnomAD
rs3781365	p.Arg1035Gln	missense variant	-	NC_000010.11:g.103602114C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3781365	p.Arg1035Leu	missense variant	-	NC_000010.11:g.103602114C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148771539	p.Ala1036Thr	missense variant	-	NC_000010.11:g.103602112C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs994928529	p.Ser1038Thr	missense variant	-	NC_000010.11:g.103602105C>G	gnomAD
rs556209599	p.Gln1039His	missense variant	-	NC_000010.11:g.103602101C>A	1000Genomes,ExAC,gnomAD
rs1372585961	p.Gly1040Val	missense variant	-	NC_000010.11:g.103602099C>A	gnomAD
rs537959543	p.Asp1042Asn	missense variant	-	NC_000010.11:g.103602094C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374861488	p.Ser1043Pro	missense variant	-	NC_000010.11:g.103602091A>G	ESP,TOPMed,gnomAD
rs1319313039	p.Pro1044Ser	missense variant	-	NC_000010.11:g.103602088G>A	gnomAD
rs747998608	p.Pro1044Leu	missense variant	-	NC_000010.11:g.103602087G>A	ExAC,gnomAD
rs778820299	p.Leu1045Val	missense variant	-	NC_000010.11:g.103602085G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1045TyrPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.103602085G>-	NCI-TCGA
rs1397025949	p.Pro1047Arg	missense variant	-	NC_000010.11:g.103602078G>C	gnomAD
rs1248576447	p.Ala1048Val	missense variant	-	NC_000010.11:g.103602075G>A	gnomAD
rs754844848	p.Ala1048Thr	missense variant	-	NC_000010.11:g.103602076C>T	ExAC,TOPMed,gnomAD
COSM6064755	p.Gln1049His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602071C>G	NCI-TCGA Cosmic
rs779383403	p.Gln1049Glu	missense variant	-	NC_000010.11:g.103602073G>C	ExAC,gnomAD
rs755681659	p.Arg1050Cys	missense variant	-	NC_000010.11:g.103602070G>A	ExAC,TOPMed,gnomAD
rs368557851	p.Arg1050His	missense variant	-	NC_000010.11:g.103602069C>T	ESP,ExAC,TOPMed,gnomAD
rs368557851	p.Arg1050Leu	missense variant	-	NC_000010.11:g.103602069C>A	ESP,ExAC,TOPMed,gnomAD
rs148790099	p.Asn1051Ser	missense variant	-	NC_000010.11:g.103602066T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148790099	p.Asn1051Ile	missense variant	-	NC_000010.11:g.103602066T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1232932928	p.Pro1054Arg	missense variant	-	NC_000010.11:g.103602057G>C	gnomAD
rs375554787	p.Val1055Leu	missense variant	-	NC_000010.11:g.103602055C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375554787	p.Val1055Met	missense variant	-	NC_000010.11:g.103602055C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375554787	p.Val1055Leu	missense variant	-	NC_000010.11:g.103602055C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770881149	p.Ser1056Phe	missense variant	-	NC_000010.11:g.103602051G>A	ExAC,gnomAD
rs1343844629	p.Val1058Met	missense variant	-	NC_000010.11:g.103602046C>T	gnomAD
rs749914163	p.Arg1059His	missense variant	-	NC_000010.11:g.103602042C>T	ExAC,TOPMed,gnomAD
rs201065560	p.Arg1059Cys	missense variant	-	NC_000010.11:g.103602043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772350449	p.Pro1060His	missense variant	-	NC_000010.11:g.103602039G>T	ExAC,gnomAD
rs1390704543	p.Ile1063Val	missense variant	-	NC_000010.11:g.103602031T>C	gnomAD
rs774075815	p.Glu1064Lys	missense variant	-	NC_000010.11:g.103602028C>T	ExAC,TOPMed,gnomAD
rs749185172	p.Lys1065Asn	missense variant	-	NC_000010.11:g.103602023C>A	ExAC,gnomAD
rs139773955	p.Gln1067Arg	missense variant	-	NC_000010.11:g.103602018T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1067ValPheSerTerUnk	frameshift	-	NC_000010.11:g.103602018_103602019TG>-	NCI-TCGA
NCI-TCGA novel	p.Phe1068Leu	missense variant	-	NC_000010.11:g.103602014G>T	NCI-TCGA
rs375843443	p.Ile1069Val	missense variant	-	NC_000010.11:g.103602013T>C	ESP,ExAC,TOPMed,gnomAD
rs375843443	p.Ile1069Leu	missense variant	-	NC_000010.11:g.103602013T>G	ESP,ExAC,TOPMed,gnomAD
rs375843443	p.Ile1069Phe	missense variant	-	NC_000010.11:g.103602013T>A	ESP,ExAC,TOPMed,gnomAD
rs765653843	p.His1070Leu	missense variant	-	NC_000010.11:g.103602009T>A	ExAC,TOPMed,gnomAD
rs1274287791	p.Asn1072Asp	missense variant	-	NC_000010.11:g.103602004T>C	gnomAD
rs12764700	p.Leu1073Pro	missense variant	-	NC_000010.11:g.103602000A>G	-
rs12764700	p.Leu1073Pro	missense variant	-	NC_000010.11:g.103602000A>G	UniProt,dbSNP
VAR_056993	p.Leu1073Pro	missense variant	-	NC_000010.11:g.103602000A>G	UniProt
NCI-TCGA novel	p.Tyr1077Asn	missense variant	-	NC_000010.11:g.103601989A>T	NCI-TCGA
rs1449645836	p.Tyr1077Cys	missense variant	-	NC_000010.11:g.103601988T>C	gnomAD
rs561681082	p.Val1078Ile	missense variant	-	NC_000010.11:g.103601986C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1316784618	p.Ser1079Cys	missense variant	-	NC_000010.11:g.103601982G>C	gnomAD
rs1224789654	p.Ala1081Thr	missense variant	-	NC_000010.11:g.103601977C>T	TOPMed,gnomAD
rs1224789654	p.Ala1081Ser	missense variant	-	NC_000010.11:g.103601977C>A	TOPMed,gnomAD
rs201558536	p.Glu1084Lys	missense variant	-	NC_000010.11:g.103601968C>T	ExAC,gnomAD
rs376965715	p.Glu1087Asp	missense variant	-	NC_000010.11:g.103601957C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1090Thr	missense variant	-	NC_000010.11:g.103601950C>T	NCI-TCGA
rs1320629210	p.Gly1091Ser	missense variant	-	NC_000010.11:g.103601947C>T	TOPMed
rs1172645567	p.Gln1093Arg	missense variant	-	NC_000010.11:g.103601940T>C	TOPMed,gnomAD
rs767600514	p.Glu1094Asp	missense variant	-	NC_000010.11:g.103601936C>G	ExAC,gnomAD
rs761976124	p.Gly1095Arg	missense variant	-	NC_000010.11:g.103601935C>G	ExAC,gnomAD
COSM1345606	p.Val1096CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103601932C>-	NCI-TCGA Cosmic
rs902920852	p.Met1098Val	missense variant	-	NC_000010.11:g.103601926T>C	TOPMed
rs149361354	p.Glu1099Val	missense variant	-	NC_000010.11:g.103601922T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1104Ser	missense variant	-	NC_000010.11:g.103601907T>C	NCI-TCGA
rs1483084884	p.Asn1106Ser	missense variant	-	NC_000010.11:g.103601901T>C	gnomAD
rs745804582	p.Trp1109Gly	missense variant	-	NC_000010.11:g.103601893A>C	ExAC,gnomAD
COSM4011406	p.Tyr1110His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103601890A>G	NCI-TCGA Cosmic
rs780798156	p.Tyr1110Asp	missense variant	-	NC_000010.11:g.103601890A>C	ExAC,gnomAD
rs756855521	p.Tyr1110Phe	missense variant	-	NC_000010.11:g.103601889T>A	ExAC
rs1306202356	p.Gln1112Leu	missense variant	-	NC_000010.11:g.103601883T>A	gnomAD
rs777612981	p.Ile1113Phe	missense variant	-	NC_000010.11:g.103601881T>A	ExAC,gnomAD
rs1186898754	p.Asp1115Gly	missense variant	-	NC_000010.11:g.103601874T>C	TOPMed
rs754299114	p.Gly1116Ser	missense variant	-	NC_000010.11:g.103601872C>T	ExAC,gnomAD
COSM914427	p.Pro1119Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103601862G>A	NCI-TCGA Cosmic
rs1468192546	p.Pro1119Ser	missense variant	-	NC_000010.11:g.103601863G>A	TOPMed
rs1291642030	p.Ser1126Phe	missense variant	-	NC_000010.11:g.103601841G>A	gnomAD
NCI-TCGA novel	p.Glu1130Asp	missense variant	-	NC_000010.11:g.103601828C>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004238	Atrial Fibrillation	disease	CTD_human;GWASCAT
C0007112	Adenocarcinoma of prostate	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0013537	Eclampsia	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0038454	Cerebrovascular accident	group	CTD_human
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0206729	Neurofibrosarcoma	disease	ORPHANET
C0235480	Paroxysmal atrial fibrillation	disease	CTD_human
C0302592	Cervix carcinoma	disease	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	ORPHANET
C0751956	Acute Cerebrovascular Accidents	disease	CTD_human
C2585653	Persistent atrial fibrillation	phenotype	CTD_human
C3468561	familial atrial fibrillation	phenotype	CTD_human
C4048328	cervical cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0002020	protease binding	IEA
GO:0005515	protein binding	IPI
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0010314	phosphatidylinositol-5-phosphate binding	IEA
GO:0016176	superoxide-generating NADPH oxidase activator activity	IBA
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA
GO:0035091	phosphatidylinositol binding	IBA
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IEA
GO:0070273	phosphatidylinositol-4-phosphate binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001701	in utero embryonic development	IEA
GO:0006801	superoxide metabolic process	IDA
GO:0006801	superoxide metabolic process	IMP
GO:0006801	superoxide metabolic process	IBA
GO:0030198	extracellular matrix organization	TAS
GO:0043085	positive regulation of catalytic activity	IEA
GO:0072675	osteoclast fusion	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0002102	podosome	IDA
GO:0005829	cytosol	TAS
GO:0030054	cell junction	IEA
GO:0042995	cell projection	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-8941237	Invadopodia formation	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of SH3PXD2A mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of SH3PXD2A mRNA	28628672
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of SH3PXD2A mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SH3PXD2A mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SH3PXD2A mRNA	27188386
C496492	abrine	abrine results in decreased expression of SH3PXD2A mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of SH3PXD2A mRNA	26690555
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of SH3PXD2A mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SH3PXD2A mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of SH3PXD2A protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of SH3PXD2A intron	30157460
C029753	aflatoxin B2	aflatoxin B2 affects the methylation of SH3PXD2A intron	30157460
C000593263	afuresertib	afuresertib results in increased expression of SH3PXD2A mRNA	28960945
D000661	Amphetamine	Amphetamine results in decreased expression of SH3PXD2A mRNA	30779732
D001280	Atrazine	Atrazine results in decreased expression of SH3PXD2A mRNA	25929836
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of SH3PXD2A mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of SH3PXD2A intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SH3PXD2A mRNA	20064835; 20106945; 21632981; 22316170; 26238291;
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of SH3PXD2A mRNA	27858113
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of SH3PXD2A mRNA	27858113
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of SH3PXD2A intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of SH3PXD2A mRNA	28628672
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of SH3PXD2A mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of SH3PXD2A mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of SH3PXD2A mRNA	29097150
C006780	bisphenol A	bisphenol A results in increased methylation of SH3PXD2A gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of SH3PXD2A mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of SH3PXD2A mRNA	26485663
D002117	Calcitriol	Calcitriol results in increased expression of SH3PXD2A mRNA	16002434
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SH3PXD2A gene	20938992
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of SH3PXD2A mRNA	27858113
D002922	Ciguatoxins	Ciguatoxins affects the expression of SH3PXD2A mRNA	18353800
D002945	Cisplatin	Cisplatin results in decreased expression of SH3PXD2A mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased phosphorylation of SH3PXD2A protein	22006019
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of SH3PXD2A mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SH3PXD2A mRNA]	17585979
D003033	Coal Tar	Coal Tar results in decreased expression of SH3PXD2A mRNA	27858113
D003300	Copper	[Disulfiram binds to Copper] which results in increased expression of SH3PXD2A mRNA	24690739
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SH3PXD2A mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of SH3PXD2A mRNA	20106945
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of SH3PXD2A mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of SH3PXD2A mRNA	28628672
C000944	dicrotophos	dicrotophos results in increased expression of SH3PXD2A mRNA	28302478
D004221	Disulfiram	[Disulfiram binds to Copper] which results in increased expression of SH3PXD2A mRNA	24690739
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SH3PXD2A mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SH3PXD2A mRNA	27188386
D004317	Doxorubicin	Doxorubicin affects the expression of SH3PXD2A mRNA	29803840
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of SH3PXD2A mRNA	29464035
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of SH3PXD2A mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of SH3PXD2A mRNA	20106945
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D000431	Ethanol	Ethanol results in increased expression of SH3PXD2A mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of SH3PXD2A mRNA	29097150
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of SH3PXD2A mRNA	23649840
D017313	Fenretinide	Fenretinide results in decreased expression of SH3PXD2A mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SH3PXD2A gene	20938992
C069837	fullerene C60	fullerene C60 results in decreased expression of SH3PXD2A mRNA	19167457
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
C000593030	GSK-J4	GSK-J4 results in increased expression of SH3PXD2A mRNA	29301935
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of SH3PXD2A mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of SH3PXD2A mRNA	28628672
C544151	jinfukang	jinfukang results in increased expression of SH3PXD2A mRNA	27392435
D007854	Lead	Lead affects the expression of SH3PXD2A mRNA	28903495
D008628	Mercury	Mercury results in increased expression of SH3PXD2A mRNA	16823088
D008701	Methapyrilene	Methapyrilene affects the methylation of SH3PXD2A intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SH3PXD2A gene	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of SH3PXD2A mRNA	23649840
C028007	nickel monoxide	nickel monoxide results in decreased expression of SH3PXD2A mRNA	19167457
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SH3PXD2A mRNA	26251327
C016030	pantogab	pantogab results in decreased expression of SH3PXD2A mRNA	17379144
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
C006253	pirinixic acid	pirinixic acid results in decreased expression of SH3PXD2A mRNA	23811191
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SH3PXD2A mRNA	29432896
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of SH3PXD2A mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of SH3PXD2A mRNA	21632981
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of SH3PXD2A mRNA	25895662
D012906	Smoke	Smoke results in decreased expression of SH3PXD2A mRNA	21095227
C017947	sodium arsenite	sodium arsenite results in decreased expression of SH3PXD2A mRNA	29301061
D000077210	Sunitinib	Sunitinib results in decreased expression of SH3PXD2A mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of SH3PXD2A mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of SH3PXD2A mRNA	20106945
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SH3PXD2A mRNA	21570461; 28922406;
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of SH3PXD2A mRNA	25975270
C009495	titanium dioxide	titanium dioxide results in decreased expression of SH3PXD2A mRNA	23409001
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased methylation of SH3PXD2A intron	31039056
D014212	Tretinoin	Tretinoin results in increased expression of SH3PXD2A mRNA	23724009; 23830798;
D014212	Tretinoin	Tretinoin results in decreased expression of SH3PXD2A mRNA	16604517
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SH3PXD2A mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of SH3PXD2A mRNA	24935251; 26272509;
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of SH3PXD2A mRNA	26179874
D000077288	Troglitazone	Troglitazone results in increased expression of SH3PXD2A mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of SH3PXD2A mRNA	30912803
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SH3PXD2A mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of SH3PXD2A mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of SH3PXD2A mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in increased methylation of SH3PXD2A gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of SH3PXD2A mRNA	17963808
C025643	vinclozolin	vinclozolin results in increased expression of SH3PXD2A mRNA	23034163
D024483	Vitamin K 3	Vitamin K 3 affects the expression of SH3PXD2A mRNA	20044591

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0965	Cell junction
KW-0966	Cell projection
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0728	SH3 domain

Interpro

InterPro ID	InterPro Term
IPR001683	Phox
IPR036871	PX_dom_sf
IPR036028	SH3-like_dom_sf
IPR001452	SH3_domain
IPR037961	SH3PXD2_PX
IPR034917	SH3PXD2A
IPR035450	SH3PXD2A_SH3_1
IPR035452	SH3PXD2A_SH3_2
IPR035449	SH3PXD2A_SH3_3
IPR035453	SH3PXD2A_SH3_4
IPR035454	SH3PXD2A_SH3_5

PROSITE

PROSITE ID	PROSITE Term
PS50195	PX
PS50002	SH3

Pfam

Pfam ID	Pfam Term
PF00787	PX
PF00018	SH3_1

Gene: SH3PXD2A

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction