CleftGeneDB-Search

Gene: ARHGAP29

Basic information

Tag	Content
Uniprot ID	Q52LW3; O15463; Q59H86; Q5VYZ0; Q6NVX2; Q8TBI6;
Entrez ID	9411
Genbank protein ID	AAH93767.1; BAD92110.1; AAH93741.1; AAH22483.1; EAW73052.1; AAH67839.1; AAB81012.1; EAW73051.1;
Genbank nucleotide ID	XM_011542439.2; NM_004815.3; NM_001328664.1;
Ensembl protein ID	ENSP00000359237; ENSP00000260526;
Ensembl nucleotide ID	ENSG00000137962
Gene name	Rho GTPase-activating protein 29
Gene symbol	ARHGAP29
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	27033726; 25704602; 25081408; 25512736; 23008150; 25163644;
Functional description	GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis.
Sequence	MIAHKQKKTK KKRAWASGQL STDITTSEMG LKSLSSNSIF DPDYIKELVN DIRKFSHMLL 60 YLKEAIFSDC FKEVIHIRLE ELLRVLKSIM NKHQNLNSVD LQNAAEMLTA KVKAVNFTEV 120 NEENKNDLFQ EVFSSIETLA FTFGNILTNF LMGDVGNDSL LRLPVSRETK SFENVSVESV 180 DSSSEKGNFS PLELDNVLLK NTDSIELALS YAKTWSKYTK NIVSWVEKKL NLELESTRNM 240 VKLAEATRTN IGIQEFMPLQ SLFTNALLND IESSHLLQQT IAALQANKFV QPLLGRKNEM 300 EKQRKEIKEL WKQEQNKMLE AENALKKAKL LCMQRQDEYE KAKSSMFRAE EEHLSSSGGL 360 AKNLNKQLEK KRRLEEEALQ KVEEANELYK VCVTNVEERR NDLENTKREI LAQLRTLVFQ 420 CDLTLKAVTV NLFHMQHLQA ASLADSLQSL CDSAKLYDPG QEYSEFVKAT NSTEEEKVDG 480 NVNKHLNSSQ PSGFGPANSL EDVVRLPDSS NKIEEDRCSN SADITGPSFI RSWTFGMFSD 540 SESTGGSSES RSLDSESISP GDFHRKLPRT PSSGTMSSAD DLDEREPPSP SETGPNSLGT 600 FKKTLMSKAA LTHKFRKLRS PTKCRDCEGI VVFQGVECEE CLLVCHRKCL ENLVIICGHQ 660 KLPGKIHLFG AEFTQVAKKE PDGIPFILKI CASEIENRAL CLQGIYRVCG NKIKTEKLCQ 720 ALENGMHLVD ISEFSSHDIC DVLKLYLRQL PEPFILFRLY KEFIDLAKEI QHVNEEQETK 780 KNSLEDKKWP NMCIEINRIL LKSKDLLRQL PASNFNSLHF LIVHLKRVVD HAEENKMNSK 840 NLGVIFGPSL IRPRPTTAPI TISSLAEYSN QARLVEFLIT YSQKIFDGSL QPQDVMCSIG 900 VVDQGCFPKP LLSPEERDIE RSMKSLFFSS KEDIHTSESE SKIFERATSF EESERKQNAL 960 GKCDACLSDK AQLLLDQEAE SASQKIEDGK TPKPLSLKSD RSTNNVERHT PRTKIRPVSL 1020 PVDRLLLASP PNERNGRNMG NVNLDKFCKN PAFEGVNRKD AATTVCSKFN GFDQQTLQKI 1080 QDKQYEQNSL TAKTTMIMPS ALQEKGVTTS LQISGDHSIN ATQPSKPYAE PVRSVREASE 1140 RRSSDSYPLA PVRAPRTLQP QHWTTFYKPH APIISIRGNE EKPASPSAAV PPGTDHDPHG 1200 LVVKSMPDPD KASACPGQAT GQPKEDSEEL GLPDVNPMCQ RPRLKRMQQF EDLEGEIPQF 1260 V 1261

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	ARHGAP29	504657	A7YY57			Bos taurus	Prediction	More>>
1:1 ortholog	ARHGAP29	479940	E2RRA9			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ARHGAP29		A0A452E8A9			Capra hircus	Prediction	More>>
1:1 ortholog	ARHGAP29	9411	Q52LW3	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Arhgap29	214137	Q8CGF1	CPO	E13.5	Mus musculus	Publication	More>>
1:1 ortholog	ARHGAP29		A0A2I3TR42			Pan troglodytes	Prediction	More>>
1:1 ortholog	ARHGAP29	100152734	F1S540			Sus scrofa	Prediction	More>>
1:1 ortholog	ARHGAP29	100351674	G1SXZ8			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Arhgap29	310833	F1LPZ1			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
ARHGAP29	c. 94A>T	DNA extraction and polymerase chain reaction	25512736
ARHGAP29	rs1541098	Genotyping	25163644
ARHGAP29	rs3789688	Genotyping	25163644
ARHGAP29	rs1576593	Genotyping	25163644
ARHGAP29	rs560426	GWAS	3221112
ARHGAP29	c.62_63delCT; p.S21Yfs*20	Sequencing	23008150
ARHGAP29	c.76A>G; p.Thr26Ala	Sequencing	23008150
ARHGAP29	c.137A>G; p.Lys46Arg	Sequencing	23008150
ARHGAP29	c.888G>C; p.Arg296Ser	Sequencing	23008150
ARHGAP29	c.976A>T; p.Lys326*	Sequencing	23008150
ARHGAP29	rs148959325; c.1252G>A; p.Val418Ile	Sequencing	23008150
ARHGAP29	c.1847G>A; p.Arg616His	Sequencing	23008150
ARHGAP29	c1865C>T; p.Thr622Met	Sequencing	23008150
ARHGAP29	c.2017T>G; p.Phe673Val	Sequencing	23008150
ARHGAP29	rs113546321; c.2864G>A; p.Arg955His	Sequencing	23008150
ARHGAP29	rs140638899; c.3023G>A; p.Arg1008Lys	Sequencing	23008150
ARHGAP29	c.3425G>A; p.Arg1142Gln	Sequencing	23008150
ARHGAP29	c.3604G>T; p.Val1202Leu	Sequencing	23008150
ARHGAP29	rs1999272; c.3764G>A; p.Asp1255Gly	Sequencing	23008150
ARHGAP29	c.2492G>A; p.Ala832Thr	Sequencing	23008150
ARHGAP29	c.2533A>G; p.Ile845Val	Sequencing	23008150
ARHGAP29	c.976A>T; p.Lys326*	GWAS and Sanger sequencing	25704602
ARHGAP29	c.1939C>T; p.Arg647*	GWAS and Sanger sequencing	25704602
ARHGAP29	c.2367G>T; p.Trp789*	GWAS and Sanger sequencing	25704602
ARHGAP29	c.3118G>T; p.Gly1040*	GWAS and Sanger sequencing	25704602
ARHGAP29	c.1920+1G>A	Chromoosme miroarray; WES and Sanger sequencing	32698641
ARHGAP29	c.2864G>A; p.Arg955His	GWAS	25081408
ARHGAP29	c.2738C>A; p.Ser913Leu	GWAS	25081408
ARHGAP29	rs481931C>A	GWAS	28232668
ARHGAP29	rs4147803C>G	GWAS	28232668
ARHGAP29	c.2615C>T; p.A872V	WES	33150183
ARHGAP29	rs4147882	Genotyping and GWAS	27033726
ARHGAP29	rs12088309	Genotyping and GWAS	27033726
ARHGAP29	rs3789431	Genotyping and GWAS	27033726

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1462657501	p.Ile2Met	missense variant	-	NC_000001.11:g.94231606A>C	TOPMed
rs766931230	p.Ala3Thr	missense variant	-	NC_000001.11:g.94231605C>T	ExAC,TOPMed,gnomAD
rs766931230	p.Ala3Ser	missense variant	-	NC_000001.11:g.94231605C>A	ExAC,TOPMed,gnomAD
rs766931230	p.Ala3Pro	missense variant	-	NC_000001.11:g.94231605C>G	ExAC,TOPMed,gnomAD
COSM3866286	p.His4Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94231602G>A	NCI-TCGA Cosmic
rs141866812	p.Lys5Gln	missense variant	-	NC_000001.11:g.94231599T>G	ESP,TOPMed
NCI-TCGA novel	p.Gln6His	missense variant	-	NC_000001.11:g.94231594C>A	NCI-TCGA
NCI-TCGA novel	p.Lys8ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94231589T>-	NCI-TCGA
rs1361821749	p.Lys10Arg	missense variant	-	NC_000001.11:g.94231583T>C	TOPMed
rs369380308	p.Arg13Cys	missense variant	-	NC_000001.11:g.94231575G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1172759017	p.Arg13His	missense variant	-	NC_000001.11:g.94231574C>T	TOPMed
rs1012276764	p.Gly18Asp	missense variant	-	NC_000001.11:g.94231559C>T	TOPMed
rs1467829956	p.Gly18Ser	missense variant	-	NC_000001.11:g.94231560C>T	TOPMed
COSM1296813	p.Gln19Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94231557G>C	NCI-TCGA Cosmic
rs767680872	p.Gln19His	missense variant	-	NC_000001.11:g.94231555T>G	ExAC,TOPMed,gnomAD
rs1448143654	p.Gln19Arg	missense variant	-	NC_000001.11:g.94231556T>C	TOPMed
rs1448143654	p.Gln19Leu	missense variant	-	NC_000001.11:g.94231556T>A	TOPMed
rs762181862	p.Thr22Ala	missense variant	-	NC_000001.11:g.94231548T>C	ExAC,TOPMed
rs774714155	p.Ile24Thr	missense variant	-	NC_000001.11:g.94231541A>G	ExAC,TOPMed,gnomAD
rs1262554383	p.Thr26Ile	missense variant	-	NC_000001.11:g.94231535G>A	TOPMed
rs768935830	p.Thr26Ala	missense variant	-	NC_000001.11:g.94231536T>C	ExAC,TOPMed,gnomAD
rs768935830	p.Thr26Pro	missense variant	-	NC_000001.11:g.94231536T>G	ExAC,TOPMed,gnomAD
rs1318576238	p.Ser27Phe	missense variant	-	NC_000001.11:g.94231532G>A	TOPMed
rs759393451	p.Leu31Phe	missense variant	-	NC_000001.11:g.94231521G>A	ExAC
COSM3493561	p.Ser33Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94231514G>A	NCI-TCGA Cosmic
rs375644450	p.Ser35Arg	missense variant	-	NC_000001.11:g.94231509T>G	ESP,ExAC,TOPMed,gnomAD
rs770933013	p.Ser35Asn	missense variant	-	NC_000001.11:g.94231508C>T	ExAC,TOPMed,gnomAD
rs746891522	p.Asn37Tyr	missense variant	-	NC_000001.11:g.94231503T>A	ExAC,gnomAD
rs777315314	p.Ile39Val	missense variant	-	NC_000001.11:g.94231497T>C	ExAC,TOPMed,gnomAD
rs771565448	p.Phe40Leu	missense variant	-	NC_000001.11:g.94231494A>G	ExAC,gnomAD
rs747589753	p.Pro42Leu	missense variant	-	NC_000001.11:g.94231487G>A	ExAC,gnomAD
rs140206150	p.Ile45Val	missense variant	-	NC_000001.11:g.94231479T>C	1000Genomes,ExAC,gnomAD
rs754257819	p.Lys46Arg	missense variant	-	NC_000001.11:g.94231475T>C	ExAC,TOPMed,gnomAD
rs1479236591	p.Leu48Ser	missense variant	-	NC_000001.11:g.94231469A>G	TOPMed
NCI-TCGA novel	p.Leu48Val	missense variant	-	NC_000001.11:g.94231470A>C	NCI-TCGA
rs756691020	p.Val49Leu	missense variant	-	NC_000001.11:g.94231467C>G	ExAC,gnomAD
rs756691020	p.Val49Met	missense variant	-	NC_000001.11:g.94231467C>T	ExAC,gnomAD
rs1436891821	p.Asp51Glu	missense variant	-	NC_000001.11:g.94231459A>T	gnomAD
rs1295028775	p.Asp51Val	missense variant	-	NC_000001.11:g.94231460T>A	gnomAD
rs1045620186	p.Ile52Thr	missense variant	-	NC_000001.11:g.94231457A>G	TOPMed,gnomAD
rs146362265	p.Arg53Lys	missense variant	-	NC_000001.11:g.94231454C>T	ESP,gnomAD
rs767775218	p.His57Arg	missense variant	-	NC_000001.11:g.94231442T>C	ExAC,gnomAD
NCI-TCGA novel	p.His57Tyr	missense variant	-	NC_000001.11:g.94231443G>A	NCI-TCGA
rs761991943	p.Met58Val	missense variant	-	NC_000001.11:g.94231440T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr61Ter	stop gained	-	NC_000001.11:g.94231429A>T	NCI-TCGA
rs764437996	p.Leu62Ter	stop gained	-	NC_000001.11:g.94231427A>T	ExAC,gnomAD
rs764437996	p.Leu62Trp	missense variant	-	NC_000001.11:g.94231427A>C	ExAC,gnomAD
rs200189126	p.Glu64Lys	missense variant	-	NC_000001.11:g.94231422C>T	ExAC,gnomAD
rs377164789	p.Ala65Thr	missense variant	-	NC_000001.11:g.94231419C>T	ESP,ExAC,TOPMed,gnomAD
rs760724845	p.Phe67Ile	missense variant	-	NC_000001.11:g.94231413A>T	ExAC
rs765432431	p.Cys70Arg	missense variant	-	NC_000001.11:g.94220390A>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys70Tyr	missense variant	-	NC_000001.11:g.94220389C>T	NCI-TCGA
NCI-TCGA novel	p.Cys70PhePheSerTerUnk	frameshift	-	NC_000001.11:g.94220388_94220389AC>-	NCI-TCGA
rs1331548920	p.Phe71Ser	missense variant	-	NC_000001.11:g.94220386A>G	TOPMed
COSM1345020	p.Glu73Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94220381C>A	NCI-TCGA Cosmic
rs574016258	p.Val74Leu	missense variant	-	NC_000001.11:g.94220378C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1393860320	p.Ile75Thr	missense variant	-	NC_000001.11:g.94220374A>G	gnomAD
rs767473796	p.His76Tyr	missense variant	-	NC_000001.11:g.94220372G>A	ExAC,gnomAD
rs768035907	p.Ile77Thr	missense variant	-	NC_000001.11:g.94220368A>G	ExAC,gnomAD
rs773896118	p.Ile77Val	missense variant	-	NC_000001.11:g.94220369T>C	ExAC,TOPMed,gnomAD
rs1212156200	p.Arg78Cys	missense variant	-	NC_000001.11:g.94220366G>A	TOPMed
rs367817904	p.Arg78His	missense variant	-	NC_000001.11:g.94220365C>T	ESP,ExAC,gnomAD
rs775014085	p.Glu80Lys	missense variant	-	NC_000001.11:g.94220360C>T	ExAC,gnomAD
rs769431878	p.Glu81Asp	missense variant	-	NC_000001.11:g.94220355T>A	ExAC,TOPMed,gnomAD
rs1425649735	p.Leu82Met	missense variant	-	NC_000001.11:g.94220354G>T	gnomAD
rs374838820	p.Arg84Cys	missense variant	-	NC_000001.11:g.94220348G>A	ESP,ExAC,TOPMed,gnomAD
rs374838820	p.Arg84Gly	missense variant	-	NC_000001.11:g.94220348G>C	ESP,ExAC,TOPMed,gnomAD
rs374838820	p.Arg84Cys	missense variant	-	NC_000001.11:g.94220348G>A	NCI-TCGA,NCI-TCGA Cosmic
rs183410431	p.Arg84His	missense variant	-	NC_000001.11:g.94220347C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747496900	p.Leu86Ser	missense variant	-	NC_000001.11:g.94220341A>G	ExAC,gnomAD
rs777968941	p.Lys87Arg	missense variant	-	NC_000001.11:g.94220338T>C	ExAC,TOPMed,gnomAD
rs766258754	p.Ile89Val	missense variant	-	NC_000001.11:g.94220333T>C	NCI-TCGA
rs766258754	p.Ile89Val	missense variant	-	NC_000001.11:g.94220333T>C	TOPMed
rs1329602255	p.Ile89Met	missense variant	-	NC_000001.11:g.94220331T>C	gnomAD
rs996519994	p.Met90Ile	missense variant	-	NC_000001.11:g.94220328C>A	TOPMed,gnomAD
rs1357882289	p.Asn91His	missense variant	-	NC_000001.11:g.94220327T>G	TOPMed
rs900852257	p.Asn91Ser	missense variant	-	NC_000001.11:g.94220326T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys92Thr	missense variant	-	NC_000001.11:g.94220323T>G	NCI-TCGA
rs1323018743	p.His93Arg	missense variant	-	NC_000001.11:g.94220320T>C	gnomAD
rs758405307	p.Asn95Lys	missense variant	-	NC_000001.11:g.94220313G>T	ExAC,TOPMed,gnomAD
rs1019238191	p.Leu96Arg	missense variant	-	NC_000001.11:g.94220311A>C	TOPMed,gnomAD
rs367962340	p.Ser98Ala	missense variant	-	NC_000001.11:g.94220306A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser98Tyr	missense variant	-	NC_000001.11:g.94220305G>T	NCI-TCGA
rs1436362931	p.Leu101Phe	missense variant	-	NC_000001.11:g.94220297G>A	gnomAD
rs761792356	p.Ala105Val	missense variant	-	NC_000001.11:g.94220284G>A	ExAC,gnomAD
rs201436437	p.Glu106Asp	missense variant	-	NC_000001.11:g.94220280T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1447722797	p.Glu106Val	missense variant	-	NC_000001.11:g.94220281T>A	gnomAD
rs764022731	p.Met107Ile	missense variant	-	NC_000001.11:g.94220277C>T	ExAC,TOPMed,gnomAD
rs769366932	p.Thr109Ile	missense variant	-	NC_000001.11:g.94220272G>A	ExAC,gnomAD
rs775019727	p.Thr109Ser	missense variant	-	NC_000001.11:g.94220273T>A	ExAC,gnomAD
rs769366932	p.Thr109Asn	missense variant	-	NC_000001.11:g.94220272G>T	ExAC,gnomAD
rs775019727	p.Thr109Ala	missense variant	-	NC_000001.11:g.94220273T>C	ExAC,gnomAD
rs1207730905	p.Ala110Glu	missense variant	-	NC_000001.11:g.94220269G>T	TOPMed,gnomAD
rs967954343	p.Lys111Glu	missense variant	-	NC_000001.11:g.94220267T>C	TOPMed
COSM4861732	p.Val112Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94220263A>G	NCI-TCGA Cosmic
rs777185368	p.Lys113Glu	missense variant	-	NC_000001.11:g.94220261T>C	ExAC,gnomAD
rs777185368	p.Lys113Gln	missense variant	-	NC_000001.11:g.94220261T>G	ExAC,gnomAD
rs1178470400	p.Ala114Gly	missense variant	-	NC_000001.11:g.94209350G>C	gnomAD
NCI-TCGA novel	p.Ala114Thr	missense variant	-	NC_000001.11:g.94220258C>T	NCI-TCGA
rs1205214692	p.Val115Met	missense variant	-	NC_000001.11:g.94209348C>T	gnomAD
rs1347855117	p.Asn116Ser	missense variant	-	NC_000001.11:g.94209344T>C	gnomAD
rs940546746	p.Thr118Arg	missense variant	-	NC_000001.11:g.94209338G>C	TOPMed,gnomAD
rs940546746	p.Thr118Ile	missense variant	-	NC_000001.11:g.94209338G>A	TOPMed,gnomAD
rs1245996285	p.Glu119Asp	missense variant	-	NC_000001.11:g.94209334T>A	TOPMed
RCV000202673	p.Val120Phe	missense variant	-	NC_000001.11:g.94209333C>A	ClinVar
rs864309588	p.Val120Phe	missense variant	-	NC_000001.11:g.94209333C>A	-
rs759321408	p.Asn121Ser	missense variant	-	NC_000001.11:g.94209329T>C	ExAC,gnomAD
rs1188001028	p.Asn124Tyr	missense variant	-	NC_000001.11:g.94209321T>A	TOPMed
rs1372520353	p.Asn124Ser	missense variant	-	NC_000001.11:g.94209320T>C	gnomAD
rs770643185	p.Asp127Asn	missense variant	-	NC_000001.11:g.94209312C>T	NCI-TCGA,NCI-TCGA Cosmic
rs770643185	p.Asp127Asn	missense variant	-	NC_000001.11:g.94209312C>T	ExAC,gnomAD
rs1477317624	p.Asp127Glu	missense variant	-	NC_000001.11:g.94209310A>T	TOPMed
rs770643185	p.Asp127His	missense variant	-	NC_000001.11:g.94209312C>G	ExAC,gnomAD
COSM1688075	p.Gln130Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94209303G>A	NCI-TCGA Cosmic
rs201288581	p.Gln130His	missense variant	-	NC_000001.11:g.94209301C>A	1000Genomes,ExAC,gnomAD
rs1170736741	p.Gln130Glu	missense variant	-	NC_000001.11:g.94209303G>C	gnomAD
rs773584921	p.Glu131Gln	missense variant	-	NC_000001.11:g.94209300C>G	ExAC,gnomAD
rs909039853	p.Val132Ala	missense variant	-	NC_000001.11:g.94209296A>G	TOPMed
rs149644496	p.Ile136Val	missense variant	-	NC_000001.11:g.94209285T>C	ESP,ExAC,TOPMed,gnomAD
rs748666537	p.Thr138Asn	missense variant	-	NC_000001.11:g.94209278G>T	ExAC,TOPMed,gnomAD
rs1182349707	p.Ala140Val	missense variant	-	NC_000001.11:g.94209272G>A	TOPMed,gnomAD
COSM4864238	p.Gly144Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94209260C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly144Val	missense variant	-	NC_000001.11:g.94209260C>A	NCI-TCGA
rs768713857	p.Ile146Thr	missense variant	-	NC_000001.11:g.94209254A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu147ProPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94208904_94208905insA	NCI-TCGA
rs775510708	p.Thr148Ile	missense variant	-	NC_000001.11:g.94208899G>A	ExAC,gnomAD
rs989045761	p.Asn149Asp	missense variant	-	NC_000001.11:g.94208897T>C	TOPMed
rs1319808477	p.Phe150Leu	missense variant	-	NC_000001.11:g.94208892G>T	TOPMed,gnomAD
rs770046057	p.Leu151Phe	missense variant	-	NC_000001.11:g.94208891G>A	ExAC,TOPMed,gnomAD
rs1320840795	p.Met152Thr	missense variant	-	NC_000001.11:g.94208887A>G	gnomAD
rs369329153	p.Asp154Gly	missense variant	-	NC_000001.11:g.94208881T>C	ESP,ExAC,TOPMed,gnomAD
rs758209049	p.Val155Ile	missense variant	-	NC_000001.11:g.94208879C>T	ExAC,TOPMed,gnomAD
rs1164540347	p.Gly156Arg	missense variant	-	NC_000001.11:g.94208876C>G	gnomAD
rs747832983	p.Asn157Ser	missense variant	-	NC_000001.11:g.94208872T>C	ExAC,TOPMed,gnomAD
rs1187150388	p.Arg162Ter	stop gained	-	NC_000001.11:g.94208858G>A	gnomAD
rs779009673	p.Arg162Gln	missense variant	-	NC_000001.11:g.94208857C>T	ExAC,TOPMed,gnomAD
rs1450139524	p.Val165Asp	missense variant	-	NC_000001.11:g.94208848A>T	gnomAD
rs1007475915	p.Arg167Gly	missense variant	-	NC_000001.11:g.94208843G>C	TOPMed
rs1464796896	p.Glu168Gly	missense variant	-	NC_000001.11:g.94208839T>C	TOPMed
rs147597337	p.Thr169Ile	missense variant	-	NC_000001.11:g.94208836G>A	ESP
rs1272527386	p.Ser171Leu	missense variant	-	NC_000001.11:g.94205682G>A	gnomAD
rs1272527386	p.Ser171Leu	missense variant	-	NC_000001.11:g.94205682G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu173Lys	missense variant	-	NC_000001.11:g.94205677C>T	NCI-TCGA
rs756145394	p.Asn174Ser	missense variant	-	NC_000001.11:g.94205673T>C	TOPMed,gnomAD
rs1294183799	p.Ser176Thr	missense variant	-	NC_000001.11:g.94205668A>T	TOPMed
rs373148216	p.Ser176Tyr	missense variant	-	NC_000001.11:g.94205667G>T	ESP,ExAC,TOPMed
COSM4901809	p.Glu178Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205662C>T	NCI-TCGA Cosmic
rs779773628	p.Glu178Asp	missense variant	-	NC_000001.11:g.94205660T>G	ExAC,TOPMed,gnomAD
rs1276260327	p.Ser182Thr	missense variant	-	NC_000001.11:g.94205650A>T	gnomAD
rs755650861	p.Ser182Leu	missense variant	-	NC_000001.11:g.94205649G>A	ExAC,TOPMed,gnomAD
rs755650861	p.Ser182Leu	missense variant	-	NC_000001.11:g.94205649G>A	NCI-TCGA
rs1349371315	p.Ser183Cys	missense variant	-	NC_000001.11:g.94205646G>C	gnomAD
rs749841124	p.Ser184Asn	missense variant	-	NC_000001.11:g.94205643C>T	ExAC,gnomAD
COSM3866283	p.Glu185Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205641C>T	NCI-TCGA Cosmic
rs1490725729	p.Gly187Glu	missense variant	-	NC_000001.11:g.94205198C>T	TOPMed
rs1490725729	p.Gly187Glu	missense variant	-	NC_000001.11:g.94205198C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly187GluPheSerTerUnk	frameshift	-	NC_000001.11:g.94205636T>-	NCI-TCGA
rs780539328	p.Asn188His	missense variant	-	NC_000001.11:g.94205196T>G	ExAC,TOPMed,gnomAD
rs1482258004	p.Asn188Ser	missense variant	-	NC_000001.11:g.94205195T>C	gnomAD
NCI-TCGA novel	p.Asn188Lys	missense variant	-	NC_000001.11:g.94205194A>C	NCI-TCGA
COSM1688074	p.Ser190Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205189G>A	NCI-TCGA Cosmic
COSM3493555	p.Pro191Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205186G>A	NCI-TCGA Cosmic
rs1204136399	p.Leu192Ser	missense variant	-	NC_000001.11:g.94205183A>G	gnomAD
rs751203738	p.Leu192Phe	missense variant	-	NC_000001.11:g.94205182T>G	ExAC,TOPMed,gnomAD
rs1355757280	p.Leu194Val	missense variant	-	NC_000001.11:g.94205178G>C	gnomAD
rs573851918	p.Asp195Gly	missense variant	-	NC_000001.11:g.94205174T>C	1000Genomes,ExAC,gnomAD
rs560324828	p.Asn196Ser	missense variant	-	NC_000001.11:g.94205171T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs142196186	p.Val197Leu	missense variant	-	NC_000001.11:g.94205169C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs142196186	p.Val197Met	missense variant	-	NC_000001.11:g.94205169C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys200Asn	missense variant	-	NC_000001.11:g.94205158C>A	NCI-TCGA
rs1397706869	p.Thr202Ala	missense variant	-	NC_000001.11:g.94205154T>C	gnomAD
rs766352013	p.Asp203Glu	missense variant	-	NC_000001.11:g.94205149G>C	ExAC,gnomAD
rs532106482	p.Ser204Cys	missense variant	-	NC_000001.11:g.94205147G>C	TOPMed,gnomAD
rs532106482	p.Ser204Cys	missense variant	-	NC_000001.11:g.94205147G>C	NCI-TCGA,NCI-TCGA Cosmic
rs761041430	p.Ser204Thr	missense variant	-	NC_000001.11:g.94205148A>T	ExAC,gnomAD
rs773573586	p.Ile205Val	missense variant	-	NC_000001.11:g.94205145T>C	ExAC,gnomAD
rs966941867	p.Ile205Thr	missense variant	-	NC_000001.11:g.94205144A>G	TOPMed
rs762862612	p.Glu206Lys	missense variant	-	NC_000001.11:g.94205142C>T	ExAC,gnomAD
rs762862612	p.Glu206Lys	missense variant	-	NC_000001.11:g.94205142C>T	NCI-TCGA,NCI-TCGA Cosmic
rs145191614	p.Ala208Val	missense variant	-	NC_000001.11:g.94205135G>A	ESP,ExAC,TOPMed,gnomAD
rs769812766	p.Ala212Thr	missense variant	-	NC_000001.11:g.94205124C>T	ExAC,gnomAD
rs537507050	p.Thr214Ala	missense variant	-	NC_000001.11:g.94205118T>C	1000Genomes,ExAC,gnomAD
rs766873724	p.Trp215Cys	missense variant	-	NC_000001.11:g.94205113C>A	TOPMed,gnomAD
rs1021074591	p.Tyr218Cys	missense variant	-	NC_000001.11:g.94205105T>C	TOPMed
rs780813691	p.Asn221Ser	missense variant	-	NC_000001.11:g.94205096T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile222Val	missense variant	-	NC_000001.11:g.94205094T>C	NCI-TCGA
rs770423227	p.Val223Ala	missense variant	-	NC_000001.11:g.94205090A>G	ExAC,gnomAD
rs1486020633	p.Ser224Leu	missense variant	-	NC_000001.11:g.94205087G>A	gnomAD
rs1401806484	p.Val226Ala	missense variant	-	NC_000001.11:g.94205081A>G	gnomAD
NCI-TCGA novel	p.Val226Phe	missense variant	-	NC_000001.11:g.94205082C>A	NCI-TCGA
NCI-TCGA novel	p.Glu227Asp	missense variant	-	NC_000001.11:g.94205077T>G	NCI-TCGA
rs1264476540	p.Lys229Arg	missense variant	-	NC_000001.11:g.94205072T>C	gnomAD
NCI-TCGA novel	p.Leu230AlaPheSerTerUnk	frameshift	-	NC_000001.11:g.94205071_94205072insT	NCI-TCGA
NCI-TCGA novel	p.Asn231Ter	frameshift	-	NC_000001.11:g.94205067_94205068insA	NCI-TCGA
rs1431464764	p.Leu232Phe	missense variant	-	NC_000001.11:g.94205062C>G	TOPMed
rs746453594	p.Glu233Lys	missense variant	-	NC_000001.11:g.94205061C>T	NCI-TCGA
rs746453594	p.Glu233Lys	missense variant	-	NC_000001.11:g.94205061C>T	ExAC,gnomAD
rs1330827428	p.Leu234Ser	missense variant	-	NC_000001.11:g.94203991A>G	TOPMed,gnomAD
rs1330827428	p.Leu234Trp	missense variant	-	NC_000001.11:g.94203991A>C	TOPMed,gnomAD
rs1299495644	p.Ser236Phe	missense variant	-	NC_000001.11:g.94203985G>A	TOPMed,gnomAD
rs1299495644	p.Ser236Phe	missense variant	-	NC_000001.11:g.94203985G>A	NCI-TCGA Cosmic
rs1190367816	p.Thr237Ser	missense variant	-	NC_000001.11:g.94203983T>A	gnomAD
rs1346357294	p.Arg238Gly	missense variant	-	NC_000001.11:g.94203980T>C	gnomAD
rs1162713839	p.Asn239Tyr	missense variant	-	NC_000001.11:g.94203977T>A	TOPMed
rs1487401928	p.Met240Val	missense variant	-	NC_000001.11:g.94203974T>C	gnomAD
rs762094116	p.Met240Thr	missense variant	-	NC_000001.11:g.94203973A>G	ExAC,TOPMed,gnomAD
rs762094116	p.Met240Arg	missense variant	-	NC_000001.11:g.94203973A>C	ExAC,TOPMed,gnomAD
rs1427893982	p.Val241Asp	missense variant	-	NC_000001.11:g.94203970A>T	gnomAD
rs1457639532	p.Glu245Lys	missense variant	-	NC_000001.11:g.94203959C>T	TOPMed
rs764929167	p.Thr247Ser	missense variant	-	NC_000001.11:g.94203952G>C	ExAC,TOPMed,gnomAD
rs759585723	p.Arg248Gly	missense variant	-	NC_000001.11:g.94203950T>C	ExAC,gnomAD
rs776437130	p.Thr249Asn	missense variant	-	NC_000001.11:g.94203946G>T	ExAC,gnomAD
rs776437130	p.Thr249Ile	missense variant	-	NC_000001.11:g.94203946G>A	ExAC,gnomAD
rs868866556	p.Ile251Val	missense variant	-	NC_000001.11:g.94203941T>C	TOPMed,gnomAD
rs770801204	p.Ile251Thr	missense variant	-	NC_000001.11:g.94203940A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly252Glu	missense variant	-	NC_000001.11:g.94203937C>T	NCI-TCGA
rs1181867971	p.Met257Leu	missense variant	-	NC_000001.11:g.94203204T>G	gnomAD
rs772764382	p.Ser261Ala	missense variant	-	NC_000001.11:g.94203192A>C	ExAC,gnomAD
rs61743723	p.Asn265Lys	missense variant	-	NC_000001.11:g.94203178A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253343962	p.Asn265Asp	missense variant	-	NC_000001.11:g.94203180T>C	TOPMed
rs1006013042	p.Ala266Val	missense variant	-	NC_000001.11:g.94203176G>A	gnomAD
NCI-TCGA novel	p.Ala266Asp	missense variant	-	NC_000001.11:g.94203176G>T	NCI-TCGA
rs201765549	p.Leu267Val	missense variant	-	NC_000001.11:g.94203174G>C	1000Genomes,ExAC
rs773884869	p.Asn269Asp	missense variant	-	NC_000001.11:g.94203168T>C	ExAC,TOPMed,gnomAD
rs1020434901	p.Asp270Asn	missense variant	-	NC_000001.11:g.94203165C>T	TOPMed,gnomAD
rs749646127	p.Ile271Thr	missense variant	-	NC_000001.11:g.94203161A>G	ExAC,gnomAD
rs768305509	p.Ile271Val	missense variant	-	NC_000001.11:g.94203162T>C	ExAC,gnomAD
rs1280250780	p.Ser274Arg	missense variant	-	NC_000001.11:g.94203151A>T	gnomAD
rs780534478	p.Ser274Asn	missense variant	-	NC_000001.11:g.94203152C>T	ExAC,gnomAD
rs770471389	p.His275Tyr	missense variant	-	NC_000001.11:g.94203150G>A	ExAC
rs199617870	p.Leu276Phe	missense variant	-	NC_000001.11:g.94203147G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368132743	p.Leu277Ser	missense variant	-	NC_000001.11:g.94203143A>G	ESP,ExAC,TOPMed,gnomAD
rs757289397	p.Gln278Leu	missense variant	-	NC_000001.11:g.94203140T>A	ExAC
rs148180105	p.Gln279Arg	missense variant	-	NC_000001.11:g.94203137T>C	ESP,ExAC
rs758610615	p.Thr280Ala	missense variant	-	NC_000001.11:g.94203135T>C	ExAC,gnomAD
rs989355352	p.Ile281Val	missense variant	-	NC_000001.11:g.94203132T>C	TOPMed,gnomAD
rs753618491	p.Ala283Val	missense variant	-	NC_000001.11:g.94203125G>A	ExAC,gnomAD
rs766142489	p.Leu284His	missense variant	-	NC_000001.11:g.94203122A>T	ExAC
rs1158705444	p.Ala286Thr	missense variant	-	NC_000001.11:g.94203117C>T	gnomAD
rs750362161	p.Lys288Ter	stop gained	-	NC_000001.11:g.94203111T>A	ExAC
NCI-TCGA novel	p.Lys288Thr	missense variant	-	NC_000001.11:g.94203110T>G	NCI-TCGA
rs1472178255	p.Gln291Arg	missense variant	-	NC_000001.11:g.94203101T>C	gnomAD
NCI-TCGA novel	p.Gln291His	missense variant	-	NC_000001.11:g.94203100C>G	NCI-TCGA
rs1166048945	p.Pro292Arg	missense variant	-	NC_000001.11:g.94202997G>C	gnomAD
NCI-TCGA novel	p.Pro292GluPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94202989_94202998CAAGTAGAGG>-	NCI-TCGA
NCI-TCGA novel	p.Arg296SerPheSerTerUnk	stop gained	-	NC_000001.11:g.94202984_94202985insTAAAATATTGTCTTAA	NCI-TCGA
rs1445806157	p.Asn298Thr	missense variant	-	NC_000001.11:g.94202979T>G	gnomAD
rs1390076216	p.Met300Val	missense variant	-	NC_000001.11:g.94202974T>C	TOPMed,gnomAD
rs747093779	p.Glu301Gly	missense variant	-	NC_000001.11:g.94202970T>C	ExAC,gnomAD
rs777881884	p.Lys302Ile	missense variant	-	NC_000001.11:g.94202967T>A	ExAC,gnomAD
rs1008764547	p.Arg304Ser	missense variant	-	NC_000001.11:g.94202960C>A	NCI-TCGA Cosmic
rs1008764547	p.Arg304Ser	missense variant	-	NC_000001.11:g.94202960C>A	TOPMed,gnomAD
rs1242918690	p.Arg304Lys	missense variant	-	NC_000001.11:g.94202961C>T	gnomAD
COSM3806171	p.Glu306Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94202956C>A	NCI-TCGA Cosmic
rs1449971217	p.Glu306Gly	missense variant	-	NC_000001.11:g.94202955T>C	gnomAD
rs758599168	p.Glu309Lys	missense variant	-	NC_000001.11:g.94202947C>T	ExAC,gnomAD
rs1189420954	p.Leu310Phe	missense variant	-	NC_000001.11:g.94202944G>A	TOPMed
rs1421867356	p.Lys312Glu	missense variant	-	NC_000001.11:g.94202938T>C	TOPMed
rs779037081	p.Gln313Leu	missense variant	-	NC_000001.11:g.94202934T>A	ExAC,gnomAD
rs1244948919	p.Glu314Gly	missense variant	-	NC_000001.11:g.94202931T>C	gnomAD
rs143446292	p.Glu314Gln	missense variant	-	NC_000001.11:g.94202932C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750165864	p.Gln315Lys	missense variant	-	NC_000001.11:g.94202929G>T	ExAC,TOPMed
rs1459378511	p.Lys317Glu	missense variant	-	NC_000001.11:g.94202923T>C	TOPMed
rs779124989	p.Ala321Thr	missense variant	-	NC_000001.11:g.94202726C>T	ExAC,gnomAD
COSM1474268	p.Glu322Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202721C>G	NCI-TCGA Cosmic
rs1160150225	p.Asn323Tyr	missense variant	-	NC_000001.11:g.94202720T>A	TOPMed
rs1321047262	p.Ala324Asp	missense variant	-	NC_000001.11:g.94202716G>T	gnomAD
rs863225063	p.Lys326Ter	stop gained	-	NC_000001.11:g.94202711T>A	TOPMed
RCV000201264	p.Lys326Ter	nonsense	-	NC_000001.11:g.94202711T>A	ClinVar
rs1284803120	p.Lys326Arg	missense variant	-	NC_000001.11:g.94202710T>C	gnomAD
rs863225063	p.Lys326Gln	missense variant	-	NC_000001.11:g.94202711T>G	TOPMed
NCI-TCGA novel	p.Lys327Arg	missense variant	-	NC_000001.11:g.94202707T>C	NCI-TCGA
COSM3985327	p.Ala328Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202705C>A	NCI-TCGA Cosmic
rs755149973	p.Lys329Asn	missense variant	-	NC_000001.11:g.94202700T>A	ExAC,TOPMed,gnomAD
COSM4868128	p.Cys332Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202692C>T	NCI-TCGA Cosmic
rs1355603243	p.Met333Ile	missense variant	-	NC_000001.11:g.94202688C>T	gnomAD
rs757199130	p.Met333Thr	missense variant	-	NC_000001.11:g.94202689A>G	ExAC,gnomAD
rs200290075	p.Gln334His	missense variant	-	NC_000001.11:g.94202685T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757995655	p.Arg335His	missense variant	-	NC_000001.11:g.94202683C>T	NCI-TCGA,NCI-TCGA Cosmic
rs757995655	p.Arg335His	missense variant	-	NC_000001.11:g.94202683C>T	ExAC,TOPMed,gnomAD
rs763872689	p.Arg335Cys	missense variant	-	NC_000001.11:g.94202684G>A	ExAC,gnomAD
rs138559066	p.Asp337Gly	missense variant	-	NC_000001.11:g.94202677T>C	ESP,ExAC,TOPMed,gnomAD
rs1178996109	p.Tyr339Cys	missense variant	-	NC_000001.11:g.94202671T>C	gnomAD
rs1481606017	p.Ala342Gly	missense variant	-	NC_000001.11:g.94202662G>C	gnomAD
COSM426868	p.Lys343ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94202659_94202660TT>-	NCI-TCGA Cosmic
rs555923720	p.Ser345Phe	missense variant	-	NC_000001.11:g.94202653G>A	1000Genomes,ExAC,gnomAD
rs988995413	p.Met346Val	missense variant	-	NC_000001.11:g.94202651T>C	TOPMed,gnomAD
rs1459761979	p.Met346Thr	missense variant	-	NC_000001.11:g.94202650A>G	TOPMed,gnomAD
rs140877322	p.Arg348His	missense variant	-	NC_000001.11:g.94202644C>T	ESP,ExAC,TOPMed,gnomAD
rs777187517	p.Arg348Cys	missense variant	-	NC_000001.11:g.94202645G>A	NCI-TCGA,NCI-TCGA Cosmic
rs777187517	p.Arg348Cys	missense variant	-	NC_000001.11:g.94202645G>A	ExAC,gnomAD
rs140877322	p.Arg348Leu	missense variant	-	NC_000001.11:g.94202644C>A	ESP,ExAC,TOPMed,gnomAD
rs140877322	p.Arg348His	missense variant	-	NC_000001.11:g.94202644C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1328011863	p.Glu351Asp	missense variant	-	NC_000001.11:g.94202634C>G	gnomAD
rs971985804	p.Ser355Tyr	missense variant	-	NC_000001.11:g.94202623G>T	gnomAD
rs1374777486	p.Ser355Pro	missense variant	-	NC_000001.11:g.94202624A>G	gnomAD
rs971985804	p.Ser355Phe	missense variant	-	NC_000001.11:g.94202623G>A	gnomAD
COSM1345019	p.Gly358Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202614C>T	NCI-TCGA Cosmic
COSM3493545	p.Gly359Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202611C>T	NCI-TCGA Cosmic
rs144191284	p.Gly359Arg	missense variant	-	NC_000001.11:g.94202612C>T	ESP,ExAC,TOPMed,gnomAD
rs144191284	p.Gly359Arg	missense variant	-	NC_000001.11:g.94202612C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly359Val	missense variant	-	NC_000001.11:g.94202611C>A	NCI-TCGA
NCI-TCGA novel	p.Ala361Val	missense variant	-	NC_000001.11:g.94202605G>A	NCI-TCGA
NCI-TCGA novel	p.Asn363IlePheSerTerUnk	frameshift	-	NC_000001.11:g.94202599T>-	NCI-TCGA
rs1279695037	p.Asn363Ser	missense variant	-	NC_000001.11:g.94202599T>C	TOPMed
COSM3493543	p.Leu364Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202597G>A	NCI-TCGA Cosmic
COSM3790359	p.Glu369Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202582C>G	NCI-TCGA Cosmic
rs774382335	p.Glu369Lys	missense variant	-	NC_000001.11:g.94202582C>T	ExAC,gnomAD
COSM1345018	p.Lys371SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94202575T>-	NCI-TCGA Cosmic
rs768915881	p.Arg372Gln	missense variant	-	NC_000001.11:g.94202572C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg372Ter	stop gained	-	NC_000001.11:g.94202573G>A	NCI-TCGA
rs768915881	p.Arg372Gln	missense variant	-	NC_000001.11:g.94202572C>T	NCI-TCGA
rs1442567563	p.Leu374Ser	missense variant	-	NC_000001.11:g.94202566A>G	TOPMed,gnomAD
rs1244787359	p.Glu377Ter	stop gained	-	NC_000001.11:g.94202558C>A	NCI-TCGA
rs1244787359	p.Glu377Ter	stop gained	-	NC_000001.11:g.94202558C>A	gnomAD
rs749497336	p.Ala378Val	missense variant	-	NC_000001.11:g.94202554G>A	ExAC,gnomAD
rs1258577148	p.Leu379Phe	missense variant	-	NC_000001.11:g.94202552G>A	gnomAD
rs1191494940	p.Gln380Pro	missense variant	-	NC_000001.11:g.94202548T>G	TOPMed
NCI-TCGA novel	p.Val382Ter	frameshift	-	NC_000001.11:g.94202544T>-	NCI-TCGA
rs750848061	p.Glu384Ala	missense variant	-	NC_000001.11:g.94201850T>G	ExAC,gnomAD
rs111880620	p.Glu387Asp	missense variant	-	NC_000001.11:g.94201840T>A	TOPMed
NCI-TCGA novel	p.Glu387Lys	missense variant	-	NC_000001.11:g.94201842C>T	NCI-TCGA
rs762371367	p.Leu388Val	missense variant	-	NC_000001.11:g.94201839G>C	ExAC,TOPMed,gnomAD
rs762371367	p.Leu388Ile	missense variant	-	NC_000001.11:g.94201839G>T	ExAC,TOPMed,gnomAD
rs1337891345	p.Asn395Asp	missense variant	-	NC_000001.11:g.94201818T>C	gnomAD
rs1253490973	p.Glu397Gly	missense variant	-	NC_000001.11:g.94201811T>C	gnomAD
COSM278951	p.Glu398Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94201809C>A	NCI-TCGA Cosmic
COSM6064494	p.Arg399Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94201805C>G	NCI-TCGA Cosmic
rs1228597010	p.Asp402Tyr	missense variant	-	NC_000001.11:g.94201797C>A	gnomAD
rs911688842	p.Asp402Glu	missense variant	-	NC_000001.11:g.94201795A>T	TOPMed
rs752065148	p.Asn405Ser	missense variant	-	NC_000001.11:g.94201787T>C	ExAC,gnomAD
rs146791639	p.Thr406Ile	missense variant	-	NC_000001.11:g.94201784G>A	ESP,TOPMed,gnomAD
rs1225441337	p.Lys407Glu	missense variant	-	NC_000001.11:g.94201782T>C	gnomAD
rs1346172800	p.Lys407Asn	missense variant	-	NC_000001.11:g.94201780T>A	gnomAD
NCI-TCGA novel	p.Ala412Pro	missense variant	-	NC_000001.11:g.94201767C>G	NCI-TCGA
rs763118604	p.Leu414Phe	missense variant	-	NC_000001.11:g.94201761G>A	ExAC,TOPMed,gnomAD
rs770096777	p.Arg415Gln	missense variant	-	NC_000001.11:g.94201757C>T	NCI-TCGA,NCI-TCGA Cosmic
rs775392961	p.Arg415Trp	missense variant	-	NC_000001.11:g.94201758G>A	ExAC,TOPMed,gnomAD
rs770096777	p.Arg415Gln	missense variant	-	NC_000001.11:g.94201757C>T	ExAC,gnomAD
rs759659645	p.Thr416Arg	missense variant	-	NC_000001.11:g.94201754G>C	ExAC,gnomAD
rs148959325	p.Val418Leu	missense variant	-	NC_000001.11:g.94201749C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs148959325	p.Val418Ile	missense variant	-	NC_000001.11:g.94201749C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1460391391	p.Gln420Arg	missense variant	-	NC_000001.11:g.94201742T>C	TOPMed
rs779013793	p.Thr424Ala	missense variant	-	NC_000001.11:g.94201731T>C	ExAC
COSM3966813	p.Thr429Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94190079G>C	NCI-TCGA Cosmic
rs1187526396	p.Leu432Val	missense variant	-	NC_000001.11:g.94190071G>C	TOPMed
rs1422086794	p.Met435Val	missense variant	-	NC_000001.11:g.94190062T>C	TOPMed
COSM6127808	p.Gln436Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94190058T>C	NCI-TCGA Cosmic
rs761728506	p.Gln436Leu	missense variant	-	NC_000001.11:g.94190058T>A	ExAC,TOPMed,gnomAD
rs1168172960	p.Ser442Phe	missense variant	-	NC_000001.11:g.94190040G>A	TOPMed
rs559908965	p.Leu443Val	missense variant	-	NC_000001.11:g.94190038G>C	1000Genomes,ExAC,gnomAD
rs767124342	p.Asp445Glu	missense variant	-	NC_000001.11:g.94190030G>C	TOPMed
rs768683730	p.Ser446Gly	missense variant	-	NC_000001.11:g.94190029T>C	ExAC,gnomAD
rs768683730	p.Ser446Cys	missense variant	-	NC_000001.11:g.94190029T>A	ExAC,gnomAD
rs749168376	p.Ser449Phe	missense variant	-	NC_000001.11:g.94190019G>A	ExAC,gnomAD
rs377195727	p.Leu450Phe	missense variant	-	NC_000001.11:g.94190017G>A	ESP,ExAC,TOPMed,gnomAD
rs377195727	p.Leu450Val	missense variant	-	NC_000001.11:g.94190017G>C	ESP,ExAC,TOPMed,gnomAD
rs780846704	p.Cys451Ser	missense variant	-	NC_000001.11:g.94190013C>G	ExAC,TOPMed,gnomAD
rs780846704	p.Cys451Phe	missense variant	-	NC_000001.11:g.94190013C>A	ExAC,TOPMed,gnomAD
rs756862814	p.Ser453Cys	missense variant	-	NC_000001.11:g.94190008T>A	ExAC,gnomAD
rs1256345812	p.Ala454Val	missense variant	-	NC_000001.11:g.94190004G>A	gnomAD
COSM1345017	p.Leu456Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189998A>C	NCI-TCGA Cosmic
rs1349239092	p.Leu456Phe	missense variant	-	NC_000001.11:g.94189999G>A	TOPMed
rs753143329	p.Tyr457Cys	missense variant	-	NC_000001.11:g.94189995T>C	ExAC,gnomAD
rs765713461	p.Asp458Gly	missense variant	-	NC_000001.11:g.94189992T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp458Tyr	missense variant	-	NC_000001.11:g.94189993C>A	NCI-TCGA
rs1383909298	p.Gly460Ser	missense variant	-	NC_000001.11:g.94189987C>T	gnomAD
rs150046824	p.Gln461Arg	missense variant	-	NC_000001.11:g.94189983T>C	ESP,ExAC,TOPMed,gnomAD
rs371413908	p.Gln461Glu	missense variant	-	NC_000001.11:g.94189984G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gln461Lys	missense variant	-	NC_000001.11:g.94189984G>T	NCI-TCGA
rs760955075	p.Glu462Lys	missense variant	-	NC_000001.11:g.94189981C>T	ExAC,gnomAD
rs760955075	p.Glu462Gln	missense variant	-	NC_000001.11:g.94189981C>G	ExAC,gnomAD
rs533027050	p.Ser464Arg	missense variant	-	NC_000001.11:g.94189975T>G	1000Genomes,gnomAD
rs774342427	p.Ser464Asn	missense variant	-	NC_000001.11:g.94189974C>T	ExAC,gnomAD
rs762740606	p.Glu465Asp	missense variant	-	NC_000001.11:g.94189970T>G	ExAC,TOPMed,gnomAD
rs1315341960	p.Phe466Leu	missense variant	-	NC_000001.11:g.94189969A>G	TOPMed
rs199964156	p.Val467Phe	missense variant	-	NC_000001.11:g.94189966C>A	1000Genomes,ExAC,gnomAD
rs1361108330	p.Lys468Glu	missense variant	-	NC_000001.11:g.94189963T>C	TOPMed
rs745414203	p.Ala469Thr	missense variant	-	NC_000001.11:g.94189960C>T	ExAC,gnomAD
rs776090818	p.Asn471Asp	missense variant	-	NC_000001.11:g.94189954T>C	ExAC,gnomAD
COSM913490	p.Ser472Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189950G>A	NCI-TCGA Cosmic
rs770621151	p.Ser472Thr	missense variant	-	NC_000001.11:g.94189951A>T	ExAC,gnomAD
rs746653996	p.Thr473Ala	missense variant	-	NC_000001.11:g.94189948T>C	ExAC,TOPMed,gnomAD
rs758699064	p.Glu476Gly	missense variant	-	NC_000001.11:g.94189938T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu476Gln	missense variant	-	NC_000001.11:g.94189939C>G	NCI-TCGA
rs1237551084	p.Val478Ala	missense variant	-	NC_000001.11:g.94189932A>G	gnomAD
rs748490963	p.Asp479His	missense variant	-	NC_000001.11:g.94189930C>G	NCI-TCGA
rs748490963	p.Asp479His	missense variant	-	NC_000001.11:g.94189930C>G	ExAC,gnomAD
rs137861305	p.Ser488Gly	missense variant	-	NC_000001.11:g.94189330T>C	ESP,ExAC,TOPMed,gnomAD
rs1415587183	p.Gln490Ter	stop gained	-	NC_000001.11:g.94189324G>A	gnomAD
rs149093475	p.Pro491Ser	missense variant	-	NC_000001.11:g.94189321G>A	ESP,ExAC,TOPMed,gnomAD
RCV000491051	p.Ser492Ter	nonsense	Nonsyndromic cleft lip with or without cleft palate	NC_000001.11:g.94189317G>T	ClinVar
rs1114167281	p.Ser492Ter	stop gained	-	NC_000001.11:g.94189317G>T	-
rs201387637	p.Gly493Glu	missense variant	-	NC_000001.11:g.94189314C>T	ExAC,TOPMed,gnomAD
rs1377380413	p.Gly493Arg	missense variant	-	NC_000001.11:g.94189315C>T	gnomAD
COSM3493541	p.Gly495Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189309C>T	NCI-TCGA Cosmic
rs1296358510	p.Gly495Arg	missense variant	-	NC_000001.11:g.94189309C>G	gnomAD
rs756274736	p.Leu500Val	missense variant	-	NC_000001.11:g.94189294A>C	ExAC,gnomAD
COSM426867	p.Glu501Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189289C>G	NCI-TCGA Cosmic
rs775193842	p.Asp502Val	missense variant	-	NC_000001.11:g.94189287T>A	NCI-TCGA,NCI-TCGA Cosmic
rs775193842	p.Asp502Val	missense variant	-	NC_000001.11:g.94189287T>A	ExAC,TOPMed,gnomAD
rs374917504	p.Val503Ala	missense variant	-	NC_000001.11:g.94189284A>G	ESP,ExAC,gnomAD
rs1284706007	p.Val503Ile	missense variant	-	NC_000001.11:g.94189285C>T	gnomAD
rs757470772	p.Val504Ile	missense variant	-	NC_000001.11:g.94189282C>T	ExAC,gnomAD
rs765069221	p.Arg505His	missense variant	-	NC_000001.11:g.94189278C>T	ExAC,gnomAD
rs752485532	p.Arg505Cys	missense variant	-	NC_000001.11:g.94189279G>A	ExAC,TOPMed,gnomAD
rs1408550874	p.Asn511Tyr	missense variant	-	NC_000001.11:g.94189261T>A	TOPMed,gnomAD
rs61758880	p.Ile513Thr	missense variant	-	NC_000001.11:g.94189254A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766251103	p.Asp516Tyr	missense variant	-	NC_000001.11:g.94189246C>A	ExAC,gnomAD
rs760204034	p.Arg517Gly	missense variant	-	NC_000001.11:g.94189243T>C	ExAC,gnomAD
rs772743580	p.Ser519Cys	missense variant	-	NC_000001.11:g.94189236G>C	ExAC,gnomAD
rs1471059831	p.Ser521Asn	missense variant	-	NC_000001.11:g.94189230C>T	gnomAD
rs771666512	p.Ala522Gly	missense variant	-	NC_000001.11:g.94189227G>C	ExAC,gnomAD
rs761510733	p.Asp523Ala	missense variant	-	NC_000001.11:g.94189224T>G	ExAC,gnomAD
rs532953220	p.Ile524Val	missense variant	-	NC_000001.11:g.94189222T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs372270954	p.Ile524Thr	missense variant	-	NC_000001.11:g.94189221A>G	ESP,ExAC,TOPMed,gnomAD
rs372270954	p.Ile524Arg	missense variant	-	NC_000001.11:g.94189221A>C	ESP,ExAC,TOPMed,gnomAD
rs1178637205	p.Gly526Asp	missense variant	-	NC_000001.11:g.94188941C>T	TOPMed
rs749955367	p.Pro527Arg	missense variant	-	NC_000001.11:g.94188938G>C	ExAC,gnomAD
rs749955367	p.Pro527Leu	missense variant	-	NC_000001.11:g.94188938G>A	ExAC,gnomAD
rs1376150424	p.Phe529Cys	missense variant	-	NC_000001.11:g.94188932A>C	TOPMed
rs140415139	p.Arg531Lys	missense variant	-	NC_000001.11:g.94188926C>T	ESP,ExAC,TOPMed,gnomAD
rs187873184	p.Trp533Arg	missense variant	-	NC_000001.11:g.94188921A>T	1000Genomes,ExAC,gnomAD
rs774066187	p.Thr534Ala	missense variant	-	NC_000001.11:g.94188918T>C	ExAC,gnomAD
COSM682641	p.Phe535Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94188915A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe535Leu	missense variant	-	NC_000001.11:g.94188915A>G	NCI-TCGA
rs140986428	p.Phe538Leu	missense variant	-	NC_000001.11:g.94188904A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs917472145	p.Ser539Arg	missense variant	-	NC_000001.11:g.94188901A>C	TOPMed
rs775965690	p.Ser539Gly	missense variant	-	NC_000001.11:g.94188903T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser543Cys	missense variant	-	NC_000001.11:g.94188891T>A	NCI-TCGA
rs1381909468	p.Thr544Ile	missense variant	-	NC_000001.11:g.94188887G>A	gnomAD
rs993042870	p.Thr544Ala	missense variant	-	NC_000001.11:g.94188888T>C	TOPMed,gnomAD
COSM5900989	p.Gly546Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94188882C>T	NCI-TCGA Cosmic
COSM3493540	p.Glu549Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94188873C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu549Ter	stop gained	-	NC_000001.11:g.94188873C>A	NCI-TCGA
rs776642953	p.Arg551Ile	missense variant	-	NC_000001.11:g.94188866C>A	ExAC,gnomAD
VAR_038552	p.Ser552Cys	Missense	-	-	UniProt
rs771049716	p.Ile558Val	missense variant	-	NC_000001.11:g.94188846T>C	ExAC,TOPMed,gnomAD
rs771049716	p.Ile558Val	missense variant	-	NC_000001.11:g.94188846T>C	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro560Leu	missense variant	-	NC_000001.11:g.94188839G>A	NCI-TCGA
NCI-TCGA novel	p.Gly561Arg	missense variant	-	NC_000001.11:g.94188837C>T	NCI-TCGA
rs1290525050	p.Asp562Glu	missense variant	-	NC_000001.11:g.94186593G>T	TOPMed,gnomAD
rs771296450	p.His564Asp	missense variant	-	NC_000001.11:g.94186589G>C	ExAC,gnomAD
rs747148271	p.Arg565Gln	missense variant	-	NC_000001.11:g.94186585C>T	NCI-TCGA
rs747148271	p.Arg565Gln	missense variant	-	NC_000001.11:g.94186585C>T	ExAC,TOPMed,gnomAD
rs866478383	p.Pro568Ser	missense variant	-	NC_000001.11:g.94186577G>A	NCI-TCGA Cosmic
rs866478383	p.Pro568Ser	missense variant	-	NC_000001.11:g.94186577G>A	-
NCI-TCGA novel	p.Pro568HisPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94186576G>-	NCI-TCGA
rs775470876	p.Arg569Gly	missense variant	-	NC_000001.11:g.94186574G>C	ExAC,gnomAD
rs867470445	p.Arg569Gln	missense variant	-	NC_000001.11:g.94186573C>T	TOPMed
rs775470876	p.Arg569Ter	stop gained	-	NC_000001.11:g.94186574G>A	ExAC,gnomAD
rs963523409	p.Ser573Ile	missense variant	-	NC_000001.11:g.94186561C>A	TOPMed
rs772334179	p.Thr575Ser	missense variant	-	NC_000001.11:g.94186555G>C	ExAC,gnomAD
rs148550448	p.Met576Val	missense variant	-	NC_000001.11:g.94186553T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3806168	p.Asp581Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94186538C>T	NCI-TCGA Cosmic
rs769642118	p.Arg585Gly	missense variant	-	NC_000001.11:g.94186526T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu586Gln	missense variant	-	NC_000001.11:g.94186523C>G	NCI-TCGA
COSM913489	p.Pro588LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94186516G>-	NCI-TCGA Cosmic
rs1253323473	p.Pro588Leu	missense variant	-	NC_000001.11:g.94186516G>A	gnomAD
COSM913488	p.Glu592Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94186505C>A	NCI-TCGA Cosmic
COSM4912424	p.Thr593Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94186502T>G	NCI-TCGA Cosmic
rs368636916	p.Thr593Ile	missense variant	-	NC_000001.11:g.94186501G>A	ESP,ExAC,TOPMed,gnomAD
rs1195357639	p.Thr593Ala	missense variant	-	NC_000001.11:g.94186502T>C	TOPMed
rs774576132	p.Asn596Ser	missense variant	-	NC_000001.11:g.94185475T>C	ExAC,TOPMed,gnomAD
rs149253725	p.Leu598Phe	missense variant	-	NC_000001.11:g.94185470G>A	ESP,ExAC,TOPMed,gnomAD
rs745715163	p.Gly599Arg	missense variant	-	NC_000001.11:g.94185467C>G	ExAC,TOPMed,gnomAD
rs780827479	p.Thr600Ile	missense variant	-	NC_000001.11:g.94185463G>A	ExAC,gnomAD
rs770959605	p.Phe601Leu	missense variant	-	NC_000001.11:g.94185459A>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr604Ala	missense variant	-	NC_000001.11:g.94185452T>C	NCI-TCGA
rs1467484478	p.Met606Lys	missense variant	-	NC_000001.11:g.94185445A>T	gnomAD
rs1402245846	p.Met606Leu	missense variant	-	NC_000001.11:g.94185446T>A	gnomAD
rs1271335316	p.Thr612Arg	missense variant	-	NC_000001.11:g.94185427G>C	TOPMed
rs1271335316	p.Thr612Arg	missense variant	-	NC_000001.11:g.94185427G>C	NCI-TCGA
NCI-TCGA novel	p.Thr612Ile	missense variant	-	NC_000001.11:g.94185427G>A	NCI-TCGA
rs777788420	p.Lys614Thr	missense variant	-	NC_000001.11:g.94185421T>G	ExAC,TOPMed,gnomAD
rs1187043361	p.Lys614Asn	missense variant	-	NC_000001.11:g.94185420C>G	TOPMed
NCI-TCGA novel	p.Lys614ThrPheSerTerUnk	frameshift	-	NC_000001.11:g.94185421_94185422insTG	NCI-TCGA
rs374991521	p.Arg616His	missense variant	-	NC_000001.11:g.94185415C>T	ESP,ExAC,TOPMed,gnomAD
rs561134145	p.Arg616Cys	missense variant	-	NC_000001.11:g.94185416G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374991521	p.Arg616His	missense variant	-	NC_000001.11:g.94185415C>T	NCI-TCGA
rs561134145	p.Arg616Cys	missense variant	-	NC_000001.11:g.94185416G>A	NCI-TCGA
rs267598780	p.Ser620Phe	missense variant	-	NC_000001.11:g.94185403G>A	NCI-TCGA,NCI-TCGA Cosmic
rs938304376	p.Ser620Pro	missense variant	-	NC_000001.11:g.94185404A>G	TOPMed
rs267598780	p.Ser620Phe	missense variant	-	NC_000001.11:g.94185403G>A	-
rs754282456	p.Thr622Ala	missense variant	-	NC_000001.11:g.94185398T>C	ExAC,TOPMed,gnomAD
rs901902219	p.Thr622Met	missense variant	-	NC_000001.11:g.94185397G>A	TOPMed
COSM913486	p.Gly629Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94185376C>T	NCI-TCGA Cosmic
rs1453808849	p.Gly629Ala	missense variant	-	NC_000001.11:g.94185376C>G	TOPMed
rs1351510008	p.Ile630Val	missense variant	-	NC_000001.11:g.94185374T>C	TOPMed,gnomAD
rs1327132660	p.Val631Ile	missense variant	-	NC_000001.11:g.94185371C>T	TOPMed,gnomAD
rs1240618636	p.Val632Gly	missense variant	-	NC_000001.11:g.94185367A>C	gnomAD
rs1277957156	p.Phe633Leu	missense variant	-	NC_000001.11:g.94185363G>C	TOPMed
rs1358403412	p.Gln634Ter	stop gained	-	NC_000001.11:g.94185362G>A	gnomAD
rs1340685100	p.Glu639Lys	missense variant	-	NC_000001.11:g.94185347C>T	gnomAD
rs774263077	p.Glu640Gln	missense variant	-	NC_000001.11:g.94185344C>G	ExAC,TOPMed,gnomAD
rs1379959384	p.Glu640Gly	missense variant	-	NC_000001.11:g.94185343T>C	gnomAD
rs774263077	p.Glu640Lys	missense variant	-	NC_000001.11:g.94185344C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys641Gly	missense variant	-	NC_000001.11:g.94185060A>C	NCI-TCGA
rs748894382	p.Arg647Gln	missense variant	-	NC_000001.11:g.94185041C>T	NCI-TCGA,NCI-TCGA Cosmic
rs748894382	p.Arg647Gln	missense variant	-	NC_000001.11:g.94185041C>T	ExAC,gnomAD
rs755173521	p.Arg647Gly	missense variant	-	NC_000001.11:g.94185042G>C	gnomAD
NCI-TCGA novel	p.Cys649ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94185037_94185038insT	NCI-TCGA
rs1446059622	p.Asn652Ile	missense variant	-	NC_000001.11:g.94185026T>A	TOPMed
rs779696568	p.Asn652Tyr	missense variant	-	NC_000001.11:g.94185027T>A	ExAC,gnomAD
rs1326027907	p.His659Arg	missense variant	-	NC_000001.11:g.94185005T>C	TOPMed,gnomAD
rs1326027907	p.His659Arg	missense variant	-	NC_000001.11:g.94185005T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu662Arg	missense variant	-	NC_000001.11:g.94184996A>C	NCI-TCGA
rs374207528	p.Pro663Ser	missense variant	-	NC_000001.11:g.94184994G>A	ESP,ExAC,gnomAD
rs374207528	p.Pro663Thr	missense variant	-	NC_000001.11:g.94184994G>T	ESP,ExAC,gnomAD
COSM1688071	p.Gly664Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184990C>T	NCI-TCGA Cosmic
rs768050900	p.Ile666Thr	missense variant	-	NC_000001.11:g.94184984A>G	ExAC,gnomAD
rs764090841	p.His667Tyr	missense variant	-	NC_000001.11:g.94184982G>A	gnomAD
COSM3493536	p.Gly670Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184972C>T	NCI-TCGA Cosmic
rs757737646	p.Ala671Thr	missense variant	-	NC_000001.11:g.94184970C>T	ExAC,TOPMed,gnomAD
rs1217333885	p.Phe673Val	missense variant	-	NC_000001.11:g.94184964A>C	TOPMed
rs1478862521	p.Thr674Ala	missense variant	-	NC_000001.11:g.94184961T>C	gnomAD
rs1424474646	p.Thr674Ile	missense variant	-	NC_000001.11:g.94184960G>A	gnomAD
rs1424474646	p.Thr674Lys	missense variant	-	NC_000001.11:g.94184960G>T	gnomAD
rs751717996	p.Gln675Glu	missense variant	-	NC_000001.11:g.94184958G>C	ExAC,gnomAD
rs751717996	p.Gln675Lys	missense variant	-	NC_000001.11:g.94184958G>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys679ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94184945T>-	NCI-TCGA
NCI-TCGA novel	p.Glu680Lys	missense variant	-	NC_000001.11:g.94184943C>T	NCI-TCGA
rs1223507360	p.Pro681Leu	missense variant	-	NC_000001.11:g.94184939G>A	gnomAD
rs201425202	p.Gly683Val	missense variant	-	NC_000001.11:g.94184933C>A	ESP,ExAC,gnomAD
rs763023340	p.Ile687Val	missense variant	-	NC_000001.11:g.94184922T>C	ExAC,gnomAD
COSM3493535	p.Cys691Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184909C>T	NCI-TCGA Cosmic
COSM426866	p.Ser693Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94184903G>C	NCI-TCGA Cosmic
COSM415212	p.Ser693Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94184903G>T	NCI-TCGA Cosmic
rs1252903847	p.Ser693Leu	missense variant	-	NC_000001.11:g.94184903G>A	gnomAD
rs1366119165	p.Glu694Asp	missense variant	-	NC_000001.11:g.94184899C>A	gnomAD
rs760580938	p.Glu694Gln	missense variant	-	NC_000001.11:g.94184901C>G	ExAC,gnomAD
rs1437662321	p.Ala699Val	missense variant	-	NC_000001.11:g.94184885G>A	gnomAD
rs141850321	p.Leu702Pro	missense variant	-	NC_000001.11:g.94184876A>G	ESP,ExAC,gnomAD
COSM1238213	p.Gln703His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184872C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln703Arg	missense variant	-	NC_000001.11:g.94184873T>C	NCI-TCGA
COSM465124	p.Arg707Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184279G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys709TrpPheSerTerUnk	frameshift	-	NC_000001.11:g.94184270_94184271CA>-	NCI-TCGA
rs752810306	p.Gly710Arg	missense variant	-	NC_000001.11:g.94184270C>T	ExAC,gnomAD
rs369895563	p.Ile713Thr	missense variant	-	NC_000001.11:g.94184260A>G	ESP,ExAC,gnomAD
rs1327878170	p.Thr715Ala	missense variant	-	NC_000001.11:g.94184255T>C	TOPMed,gnomAD
rs1432434047	p.Cys719Tyr	missense variant	-	NC_000001.11:g.94184242C>T	TOPMed
rs1265124751	p.Cys719Ser	missense variant	-	NC_000001.11:g.94184243A>T	TOPMed
NCI-TCGA novel	p.Gln720Ter	stop gained	-	NC_000001.11:g.94184240G>A	NCI-TCGA
rs1193595640	p.Ala721Pro	missense variant	-	NC_000001.11:g.94184237C>G	TOPMed
rs1193595640	p.Ala721Pro	missense variant	-	NC_000001.11:g.94184237C>G	NCI-TCGA Cosmic
rs1303564632	p.Asn724Asp	missense variant	-	NC_000001.11:g.94184228T>C	gnomAD
rs753958113	p.Met726Thr	missense variant	-	NC_000001.11:g.94184221A>G	ExAC,gnomAD
rs375929219	p.Met726Ile	missense variant	-	NC_000001.11:g.94184220C>T	ESP,ExAC,TOPMed,gnomAD
rs761627797	p.His727Tyr	missense variant	-	NC_000001.11:g.94184219G>A	ExAC,gnomAD
rs1421320405	p.His727Arg	missense variant	-	NC_000001.11:g.94184218T>C	gnomAD
rs763749375	p.Leu728Phe	missense variant	-	NC_000001.11:g.94184214C>A	ExAC,TOPMed,gnomAD
rs762821054	p.Val729Ile	missense variant	-	NC_000001.11:g.94184213C>T	ExAC,gnomAD
rs1415505877	p.Ile731Val	missense variant	-	NC_000001.11:g.94184207T>C	gnomAD
rs1415505877	p.Ile731Val	missense variant	-	NC_000001.11:g.94184207T>C	NCI-TCGA
rs1181949413	p.Ser732Ala	missense variant	-	NC_000001.11:g.94184204A>C	gnomAD
rs1485230022	p.Ser735Asn	missense variant	-	NC_000001.11:g.94184194C>T	gnomAD
rs769432957	p.His737Arg	missense variant	-	NC_000001.11:g.94184188T>C	ExAC,gnomAD
rs200371298	p.Val742Ile	missense variant	-	NC_000001.11:g.94184174C>T	ExAC,TOPMed,gnomAD
rs1323737884	p.Leu743Trp	missense variant	-	NC_000001.11:g.94184170A>C	gnomAD
rs201288992	p.Leu743Phe	missense variant	-	NC_000001.11:g.94184169C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu747Ile	missense variant	-	NC_000001.11:g.94184159G>T	NCI-TCGA
rs1397666204	p.Pro751Thr	missense variant	-	NC_000001.11:g.94179954G>T	gnomAD
rs776294524	p.Phe757Ser	missense variant	-	NC_000001.11:g.94179935A>G	ExAC,gnomAD
rs267598779	p.Arg758Ter	stop gained	-	NC_000001.11:g.94179933G>A	NCI-TCGA,NCI-TCGA Cosmic
rs41311170	p.Arg758Gln	missense variant	-	NC_000001.11:g.94179932C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs41311170	p.Arg758Leu	missense variant	-	NC_000001.11:g.94179932C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs267598779	p.Arg758Ter	stop gained	-	NC_000001.11:g.94179933G>A	ExAC,gnomAD
rs41311170	p.Arg758Gln	missense variant	-	NC_000001.11:g.94179932C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu759Phe	missense variant	-	NC_000001.11:g.94179928C>A	NCI-TCGA
rs773521335	p.Tyr760Cys	missense variant	-	NC_000001.11:g.94179926T>C	ExAC,TOPMed,gnomAD
rs1483059896	p.Tyr760Ter	stop gained	-	NC_000001.11:g.94179925G>C	TOPMed
rs1206085827	p.Lys761Gln	missense variant	-	NC_000001.11:g.94179924T>G	TOPMed
NCI-TCGA novel	p.Lys761Asn	missense variant	-	NC_000001.11:g.94179922C>A	NCI-TCGA
rs1268560152	p.Phe763Cys	missense variant	-	NC_000001.11:g.94179917A>C	gnomAD
rs748717443	p.Ile764Met	missense variant	-	NC_000001.11:g.94179913T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp765Tyr	missense variant	-	NC_000001.11:g.94179912C>A	NCI-TCGA
rs1456664235	p.Leu766Val	missense variant	-	NC_000001.11:g.94179909G>C	gnomAD
rs774828901	p.Glu769Lys	missense variant	-	NC_000001.11:g.94179900C>T	ExAC
rs769177167	p.Gln771Lys	missense variant	-	NC_000001.11:g.94179894G>T	ExAC,TOPMed,gnomAD
rs749474685	p.Gln771Pro	missense variant	-	NC_000001.11:g.94179893T>G	ExAC,TOPMed,gnomAD
rs1447600070	p.Val773Gly	missense variant	-	NC_000001.11:g.94179887A>C	TOPMed
rs1254292884	p.Glu775Asp	missense variant	-	NC_000001.11:g.94179880T>G	gnomAD
COSM682642	p.Glu776Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179879C>G	NCI-TCGA Cosmic
COSM345107	p.Glu776Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94179879C>A	NCI-TCGA Cosmic
rs946146631	p.Gln777Pro	missense variant	-	NC_000001.11:g.94179875T>G	TOPMed,gnomAD
rs756082347	p.Gln777Lys	missense variant	-	NC_000001.11:g.94179876G>T	ExAC,gnomAD
rs756082347	p.Gln777Glu	missense variant	-	NC_000001.11:g.94179876G>C	ExAC,gnomAD
rs946146631	p.Gln777Arg	missense variant	-	NC_000001.11:g.94179875T>C	TOPMed,gnomAD
rs946146631	p.Gln777Arg	missense variant	-	NC_000001.11:g.94179875T>C	NCI-TCGA Cosmic
rs1310660604	p.Glu778Lys	missense variant	-	NC_000001.11:g.94179873C>T	gnomAD
COSM1345014	p.Thr779Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179870T>A	NCI-TCGA Cosmic
rs11551175	p.Thr779Ala	missense variant	-	NC_000001.11:g.94179870T>C	ExAC,TOPMed,gnomAD
rs1375544446	p.Thr779Lys	missense variant	-	NC_000001.11:g.94179869G>T	gnomAD
rs758333836	p.Lys780Glu	missense variant	-	NC_000001.11:g.94179867T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys780Gln	missense variant	-	NC_000001.11:g.94179867T>G	NCI-TCGA
rs754787593	p.Leu784Arg	missense variant	-	NC_000001.11:g.94179854A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp786Tyr	missense variant	-	NC_000001.11:g.94179849C>A	NCI-TCGA
rs1368233219	p.Lys787Gln	missense variant	-	NC_000001.11:g.94179846T>G	TOPMed
rs1378719135	p.Trp789Cys	missense variant	-	NC_000001.11:g.94179838C>A	gnomAD
NCI-TCGA novel	p.Trp789Cys	missense variant	-	NC_000001.11:g.94179838C>G	NCI-TCGA
rs766056158	p.Pro790Ser	missense variant	-	NC_000001.11:g.94179837G>A	ExAC,TOPMed,gnomAD
rs138781972	p.Met792Val	missense variant	-	NC_000001.11:g.94179831T>C	NCI-TCGA,NCI-TCGA Cosmic
COSM3493534	p.Met792Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179831T>G	NCI-TCGA Cosmic
rs138781972	p.Met792Val	missense variant	-	NC_000001.11:g.94179831T>C	ESP,ExAC,TOPMed,gnomAD
rs1368934923	p.Met792Ile	missense variant	-	NC_000001.11:g.94179829C>T	TOPMed
rs1382429366	p.Cys793Tyr	missense variant	-	NC_000001.11:g.94179827C>T	gnomAD
rs942693495	p.Ile794Val	missense variant	-	NC_000001.11:g.94179825T>C	TOPMed,gnomAD
rs1442032742	p.Ile796Thr	missense variant	-	NC_000001.11:g.94179818A>G	gnomAD
COSM3493533	p.Asn797Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179816T>C	NCI-TCGA Cosmic
rs41311172	p.Arg798Leu	missense variant	-	NC_000001.11:g.94179812C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41311172	p.Arg798Gln	missense variant	-	NC_000001.11:g.94179812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41311172	p.Arg798Gln	missense variant	-	NC_000001.11:g.94179812C>T	NCI-TCGA
rs775023065	p.Ile799Leu	missense variant	-	NC_000001.11:g.94179810T>G	ExAC,TOPMed,gnomAD
rs1239187493	p.Leu800Phe	missense variant	-	NC_000001.11:g.94179807G>A	gnomAD
rs1470700078	p.Lys804Glu	missense variant	-	NC_000001.11:g.94179795T>C	gnomAD
rs1311141761	p.Lys804Asn	missense variant	-	NC_000001.11:g.94179793T>A	gnomAD
rs1351185381	p.Lys804Arg	missense variant	-	NC_000001.11:g.94179794T>C	gnomAD
rs769085421	p.Asp805Glu	missense variant	-	NC_000001.11:g.94179790G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp805His	missense variant	-	NC_000001.11:g.94179792C>G	NCI-TCGA
COSM4402451	p.Leu806Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179788A>C	NCI-TCGA Cosmic
rs749675960	p.Leu806Phe	missense variant	-	NC_000001.11:g.94179789G>A	NCI-TCGA,NCI-TCGA Cosmic
rs749675960	p.Leu806Phe	missense variant	-	NC_000001.11:g.94179789G>A	ExAC,TOPMed,gnomAD
rs749675960	p.Leu806Ile	missense variant	-	NC_000001.11:g.94179789G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro811Ser	missense variant	-	NC_000001.11:g.94179774G>A	NCI-TCGA
rs1397200831	p.Ser813Leu	missense variant	-	NC_000001.11:g.94179767G>A	gnomAD
COSM913484	p.Phe815Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179762A>C	NCI-TCGA Cosmic
rs1489443174	p.Ser817Arg	missense variant	-	NC_000001.11:g.94179754A>C	TOPMed
rs770044018	p.His819Arg	missense variant	-	NC_000001.11:g.94179749T>C	ExAC,gnomAD
rs1189369717	p.Ile822Thr	missense variant	-	NC_000001.11:g.94179740A>G	TOPMed
rs374266098	p.Ile822Met	missense variant	-	NC_000001.11:g.94179739T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg827Gln	missense variant	-	NC_000001.11:g.94179725C>T	NCI-TCGA
rs763613864	p.Val828Leu	missense variant	-	NC_000001.11:g.94178166C>A	ExAC,gnomAD
rs891527989	p.His831Arg	missense variant	-	NC_000001.11:g.94178156T>C	TOPMed,gnomAD
NCI-TCGA novel	p.His831IleValLeuPro	insertion	-	NC_000001.11:g.94178154_94178155insTGGTAAAACTAT	NCI-TCGA
rs1052847239	p.Glu833Lys	missense variant	-	NC_000001.11:g.94178151C>T	TOPMed,gnomAD
rs1375589352	p.Glu834Asp	missense variant	-	NC_000001.11:g.94178146T>G	TOPMed
rs935673150	p.Glu834Gln	missense variant	-	NC_000001.11:g.94178148C>G	TOPMed
NCI-TCGA novel	p.Glu834Ter	stop gained	-	NC_000001.11:g.94178148C>A	NCI-TCGA
rs1211314921	p.Lys836Arg	missense variant	-	NC_000001.11:g.94178141T>C	gnomAD
NCI-TCGA novel	p.Met837Ile	missense variant	-	NC_000001.11:g.94178137C>T	NCI-TCGA
NCI-TCGA novel	p.Lys840Ile	missense variant	-	NC_000001.11:g.94178129T>A	NCI-TCGA
rs776739108	p.Leu842Val	missense variant	-	NC_000001.11:g.94178124A>C	ExAC,gnomAD
rs537284114	p.Ile845Val	missense variant	-	NC_000001.11:g.94178115T>C	1000Genomes,ExAC,gnomAD
rs537284114	p.Ile845Leu	missense variant	-	NC_000001.11:g.94178115T>A	1000Genomes,ExAC,gnomAD
rs768564447	p.Ile851Val	missense variant	-	NC_000001.11:g.94178097T>C	ExAC,TOPMed,gnomAD
rs768564447	p.Ile851Leu	missense variant	-	NC_000001.11:g.94178097T>G	ExAC,TOPMed,gnomAD
rs768564447	p.Ile851Phe	missense variant	-	NC_000001.11:g.94178097T>A	ExAC,TOPMed,gnomAD
rs1395916283	p.Pro853Thr	missense variant	-	NC_000001.11:g.94178091G>T	TOPMed
rs749229547	p.Pro855Leu	missense variant	-	NC_000001.11:g.94178084G>A	ExAC
rs1406232388	p.Thr856Arg	missense variant	-	NC_000001.11:g.94178081G>C	gnomAD
rs1399831096	p.Thr857Ser	missense variant	-	NC_000001.11:g.94178078G>C	gnomAD
rs1237242036	p.Thr857Ala	missense variant	-	NC_000001.11:g.94178079T>C	TOPMed
rs755886644	p.Thr861Ser	missense variant	-	NC_000001.11:g.94178066G>C	ExAC,gnomAD
rs1467199735	p.Thr861Ser	missense variant	-	NC_000001.11:g.94178067T>A	gnomAD
rs750036225	p.Ile862Val	missense variant	-	NC_000001.11:g.94178064T>C	ExAC,gnomAD
rs368604781	p.Ile862Thr	missense variant	-	NC_000001.11:g.94178063A>G	ESP,ExAC,TOPMed,gnomAD
rs1278238925	p.Ser864Phe	missense variant	-	NC_000001.11:g.94178057G>A	TOPMed
rs1485328300	p.Tyr868Cys	missense variant	-	NC_000001.11:g.94178045T>C	TOPMed
COSM3806165	p.Gln871Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94178037G>C	NCI-TCGA Cosmic
rs1468642701	p.Gln871Arg	missense variant	-	NC_000001.11:g.94178036T>C	gnomAD
rs757039419	p.Arg873Cys	missense variant	-	NC_000001.11:g.94178031G>A	ExAC,TOPMed,gnomAD
rs751101186	p.Arg873His	missense variant	-	NC_000001.11:g.94178030C>T	ExAC,TOPMed,gnomAD
rs757039419	p.Arg873Cys	missense variant	-	NC_000001.11:g.94178031G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM3493529	p.Leu874Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94178027A>G	NCI-TCGA Cosmic
rs147752270	p.Val875Ile	missense variant	-	NC_000001.11:g.94178025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763522442	p.Thr880Ile	missense variant	-	NC_000001.11:g.94178009G>A	ExAC,gnomAD
rs765586398	p.Tyr881Ser	missense variant	-	NC_000001.11:g.94178006T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser882ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94178001_94178004GTGA>-	NCI-TCGA
rs1343479879	p.Gln883Glu	missense variant	-	NC_000001.11:g.94178001G>C	gnomAD
rs1277042794	p.Lys884Arg	missense variant	-	NC_000001.11:g.94177997T>C	gnomAD
rs865994687	p.Ile885Val	missense variant	-	NC_000001.11:g.94177995T>C	TOPMed
rs1376459275	p.Ile885Met	missense variant	-	NC_000001.11:g.94177993G>C	gnomAD
rs535109077	p.Asp887Asn	missense variant	-	NC_000001.11:g.94177989C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1401180476	p.Asp887Gly	missense variant	-	NC_000001.11:g.94177988T>C	gnomAD
rs535109077	p.Asp887Tyr	missense variant	-	NC_000001.11:g.94177989C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly888Trp	missense variant	-	NC_000001.11:g.94177986C>A	NCI-TCGA
rs143877998	p.Gln893Pro	missense variant	-	NC_000001.11:g.94177970T>G	ESP,ExAC,TOPMed,gnomAD
rs143877998	p.Gln893Arg	missense variant	-	NC_000001.11:g.94177970T>C	ESP,ExAC,TOPMed,gnomAD
rs1163149287	p.Asp894Asn	missense variant	-	NC_000001.11:g.94177968C>T	gnomAD
rs749204768	p.Met896Leu	missense variant	-	NC_000001.11:g.94177962T>A	ExAC,TOPMed,gnomAD
rs1390043605	p.Met896Thr	missense variant	-	NC_000001.11:g.94177961A>G	TOPMed
rs1233012147	p.Val901Gly	missense variant	-	NC_000001.11:g.94177946A>C	TOPMed,gnomAD
rs552545188	p.Val901Ile	missense variant	-	NC_000001.11:g.94177947C>T	1000Genomes,gnomAD
rs779871041	p.Val902Ala	missense variant	-	NC_000001.11:g.94177943A>G	ExAC,TOPMed,gnomAD
rs769568575	p.Asp903Asn	missense variant	-	NC_000001.11:g.94177941C>T	ExAC,gnomAD
rs1301407688	p.Gly905Asp	missense variant	-	NC_000001.11:g.94177934C>T	TOPMed
rs1281275968	p.Cys906Phe	missense variant	-	NC_000001.11:g.94177931C>A	TOPMed,gnomAD
rs1205210565	p.Pro908Ser	missense variant	-	NC_000001.11:g.94177926G>A	TOPMed
rs745647205	p.Lys909Thr	missense variant	-	NC_000001.11:g.94177922T>G	ExAC,gnomAD
rs139252732	p.Ser913Leu	missense variant	-	NC_000001.11:g.94177910G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751297503	p.Pro914Ala	missense variant	-	NC_000001.11:g.94177908G>C	ExAC
NCI-TCGA novel	p.Glu916Lys	missense variant	-	NC_000001.11:g.94177902C>T	NCI-TCGA
NCI-TCGA novel	p.Glu916Asp	missense variant	-	NC_000001.11:g.94177900T>A	NCI-TCGA
rs1374316799	p.Arg917Ser	missense variant	-	NC_000001.11:g.94177897T>G	gnomAD
rs753188754	p.Asp918Glu	missense variant	-	NC_000001.11:g.94177894G>T	ExAC,gnomAD
rs777377988	p.Asp918Val	missense variant	-	NC_000001.11:g.94177895T>A	ExAC,TOPMed,gnomAD
rs752105531	p.Ile919Ser	missense variant	-	NC_000001.11:g.94177892A>C	ExAC,TOPMed,gnomAD
rs752105531	p.Ile919Thr	missense variant	-	NC_000001.11:g.94177892A>G	ExAC,TOPMed,gnomAD
rs766858079	p.Arg921His	missense variant	-	NC_000001.11:g.94177886C>T	NCI-TCGA
rs766858079	p.Arg921His	missense variant	-	NC_000001.11:g.94177886C>T	ExAC,gnomAD
rs1455337423	p.Ser922Phe	missense variant	-	NC_000001.11:g.94177883G>A	TOPMed
rs368000303	p.Met923Val	missense variant	-	NC_000001.11:g.94177881T>C	ESP,ExAC,TOPMed,gnomAD
rs766774910	p.Met923Thr	missense variant	-	NC_000001.11:g.94177880A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys924Met	missense variant	-	NC_000001.11:g.94177877T>A	NCI-TCGA
rs760851987	p.Ser925Ala	missense variant	-	NC_000001.11:g.94177875A>C	ExAC,TOPMed,gnomAD
rs760851987	p.Ser925Pro	missense variant	-	NC_000001.11:g.94177875A>G	ExAC,TOPMed,gnomAD
rs531564843	p.Phe927Tyr	missense variant	-	NC_000001.11:g.94177868A>T	ExAC,TOPMed,gnomAD
rs1239758814	p.Ser930Ala	missense variant	-	NC_000001.11:g.94177860A>C	gnomAD
rs774558206	p.Ser930Leu	missense variant	-	NC_000001.11:g.94177859G>A	ExAC,gnomAD
COSM25293	p.Asp933Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94177720C>T	NCI-TCGA Cosmic
rs766684952	p.Asp933His	missense variant	-	NC_000001.11:g.94177720C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile934Ser	missense variant	-	NC_000001.11:g.94177716A>C	NCI-TCGA
rs202125095	p.His935Arg	missense variant	-	NC_000001.11:g.94177713T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs750580170	p.Thr936Ala	missense variant	-	NC_000001.11:g.94177711T>C	ExAC,TOPMed,gnomAD
rs1433930875	p.Glu938Lys	missense variant	-	NC_000001.11:g.94177705C>T	gnomAD
rs1399390425	p.Ser941Arg	missense variant	-	NC_000001.11:g.94177694G>C	TOPMed
rs1293835571	p.Phe944Val	missense variant	-	NC_000001.11:g.94177687A>C	TOPMed
rs1165023731	p.Arg946Ter	stop gained	-	NC_000001.11:g.94177681G>A	gnomAD
rs370625624	p.Arg946Gln	missense variant	-	NC_000001.11:g.94177680C>T	ESP,ExAC,TOPMed,gnomAD
rs181149109	p.Thr948Ser	missense variant	-	NC_000001.11:g.94177675T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs181149109	p.Thr948Ala	missense variant	-	NC_000001.11:g.94177675T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs770792315	p.Ser949Leu	missense variant	-	NC_000001.11:g.94177671G>A	ExAC,gnomAD
rs1485259006	p.Ser953Ter	stop gained	-	NC_000001.11:g.94177659G>C	TOPMed
rs113546321	p.Arg955His	missense variant	-	NC_000001.11:g.94177653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141790636	p.Arg955Cys	missense variant	-	NC_000001.11:g.94177654G>A	ESP,TOPMed,gnomAD
rs113546321	p.Arg955His	missense variant	-	NC_000001.11:g.94177653C>T	NCI-TCGA,NCI-TCGA Cosmic
rs141790636	p.Arg955Cys	missense variant	-	NC_000001.11:g.94177654G>A	NCI-TCGA
COSM913483	p.Gln957His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94177646T>G	NCI-TCGA Cosmic
rs773207285	p.Asn958His	missense variant	-	NC_000001.11:g.94177645T>G	ExAC,gnomAD
rs771607170	p.Asn958Thr	missense variant	-	NC_000001.11:g.94177644T>G	ExAC,gnomAD
rs1229590925	p.Ala959Thr	missense variant	-	NC_000001.11:g.94177642C>T	gnomAD
rs377417799	p.Ala959Glu	missense variant	-	NC_000001.11:g.94177641G>T	ESP,ExAC,TOPMed,gnomAD
rs377417799	p.Ala959Val	missense variant	-	NC_000001.11:g.94177641G>A	ESP,ExAC,TOPMed,gnomAD
rs377417799	p.Ala959Val	missense variant	-	NC_000001.11:g.94177641G>A	NCI-TCGA,NCI-TCGA Cosmic
rs867918256	p.Gly961Glu	missense variant	-	NC_000001.11:g.94177635C>T	-
rs867918256	p.Gly961Glu	missense variant	-	NC_000001.11:g.94177635C>T	NCI-TCGA Cosmic
rs373088208	p.Lys962Arg	missense variant	-	NC_000001.11:g.94177632T>C	ESP,TOPMed
rs1372749446	p.Lys962Asn	missense variant	-	NC_000001.11:g.94177631T>G	gnomAD
rs775205311	p.Cys963Arg	missense variant	-	NC_000001.11:g.94177630A>G	ExAC,TOPMed,gnomAD
rs780548274	p.Ala965Ser	missense variant	-	NC_000001.11:g.94177624C>A	ExAC,gnomAD
rs756683362	p.Cys966Arg	missense variant	-	NC_000001.11:g.94177621A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser968Cys	missense variant	-	NC_000001.11:g.94177615T>A	NCI-TCGA
rs374721703	p.Asp969Glu	missense variant	-	NC_000001.11:g.94174748G>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asp969Tyr	missense variant	-	NC_000001.11:g.94177612C>A	NCI-TCGA
rs1262074770	p.Ala971Gly	missense variant	-	NC_000001.11:g.94174743G>C	gnomAD
rs1262074770	p.Ala971Val	missense variant	-	NC_000001.11:g.94174743G>A	gnomAD
rs1339409292	p.Gln977Arg	missense variant	-	NC_000001.11:g.94174725T>C	TOPMed,gnomAD
rs778060849	p.Glu978Asp	missense variant	-	NC_000001.11:g.94174721C>G	ExAC,TOPMed,gnomAD
rs1309933711	p.Glu978Gln	missense variant	-	NC_000001.11:g.94174723C>G	gnomAD
COSM4010715	p.Glu980Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174716T>C	NCI-TCGA Cosmic
rs758759180	p.Glu980Ter	stop gained	-	NC_000001.11:g.94174717C>A	ExAC,gnomAD
rs752809915	p.Glu980Val	missense variant	-	NC_000001.11:g.94174716T>A	ExAC,gnomAD
rs372970494	p.Ser981Leu	missense variant	-	NC_000001.11:g.94174713G>A	ESP,ExAC,gnomAD
rs1387452233	p.Ala982Ser	missense variant	-	NC_000001.11:g.94174711C>A	gnomAD
rs1281112284	p.Ser983Tyr	missense variant	-	NC_000001.11:g.94174707G>T	TOPMed
rs760656559	p.Lys985Thr	missense variant	-	NC_000001.11:g.94174701T>G	ExAC,gnomAD
rs760656559	p.Lys985Thr	missense variant	-	NC_000001.11:g.94174701T>G	NCI-TCGA
rs142506942	p.Ile986Thr	missense variant	-	NC_000001.11:g.94174698A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs995072095	p.Ile986Val	missense variant	-	NC_000001.11:g.94174699T>C	TOPMed,gnomAD
rs767164876	p.Glu987Gly	missense variant	-	NC_000001.11:g.94174695T>C	ExAC,TOPMed,gnomAD
rs767164876	p.Glu987Val	missense variant	-	NC_000001.11:g.94174695T>A	ExAC,TOPMed,gnomAD
rs139412088	p.Asp988Tyr	missense variant	-	NC_000001.11:g.94174693C>A	ESP,ExAC,TOPMed,gnomAD
rs780581966	p.Gly989Ser	missense variant	-	NC_000001.11:g.94174690C>T	ExAC,TOPMed,gnomAD
rs762644073	p.Gly989Asp	missense variant	-	NC_000001.11:g.94174689C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly989Cys	missense variant	-	NC_000001.11:g.94174690C>A	NCI-TCGA
rs774950084	p.Thr991Ala	missense variant	-	NC_000001.11:g.94174684T>C	ExAC,TOPMed,gnomAD
rs1205409209	p.Pro992Ser	missense variant	-	NC_000001.11:g.94174681G>A	gnomAD
rs939273469	p.Pro992Leu	missense variant	-	NC_000001.11:g.94174680G>A	TOPMed,gnomAD
rs1480272290	p.Pro994Leu	missense variant	-	NC_000001.11:g.94174674G>A	TOPMed
rs1270802769	p.Pro994Ser	missense variant	-	NC_000001.11:g.94174675G>A	gnomAD
rs1270802769	p.Pro994Ser	missense variant	-	NC_000001.11:g.94174675G>A	NCI-TCGA
rs1301837366	p.Ser996Phe	missense variant	-	NC_000001.11:g.94174668G>A	gnomAD
NCI-TCGA novel	p.Ser996Tyr	missense variant	-	NC_000001.11:g.94174668G>T	NCI-TCGA
COSM4901403	p.Asp1000Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174657C>T	NCI-TCGA Cosmic
rs1234147971	p.Arg1001Ser	missense variant	-	NC_000001.11:g.94174652C>A	gnomAD
rs376576743	p.Thr1003Ala	missense variant	-	NC_000001.11:g.94174648T>C	ESP,ExAC,TOPMed,gnomAD
rs376576743	p.Thr1003Ser	missense variant	-	NC_000001.11:g.94174648T>A	ESP,ExAC,TOPMed,gnomAD
rs777206745	p.Asn1004Asp	missense variant	-	NC_000001.11:g.94174645T>C	ExAC,TOPMed,gnomAD
rs540284512	p.Asn1005Ser	missense variant	-	NC_000001.11:g.94174641T>C	1000Genomes
rs902221557	p.Val1006Ala	missense variant	-	NC_000001.11:g.94174638A>G	TOPMed,gnomAD
rs371897710	p.Glu1007Lys	missense variant	-	NC_000001.11:g.94174636C>T	ESP,ExAC,TOPMed,gnomAD
rs140638899	p.Arg1008Lys	missense variant	-	NC_000001.11:g.94174632C>T	NCI-TCGA,NCI-TCGA Cosmic
rs140638899	p.Arg1008Lys	missense variant	-	NC_000001.11:g.94174632C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1386488730	p.Thr1010Ser	missense variant	-	NC_000001.11:g.94174627T>A	gnomAD
rs778056394	p.Pro1011Ser	missense variant	-	NC_000001.11:g.94174624G>A	ExAC,TOPMed,gnomAD
COSM3493526	p.Arg1012Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174620C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr1013Ile	missense variant	-	NC_000001.11:g.94174617G>A	NCI-TCGA
rs915174947	p.Lys1014Met	missense variant	-	NC_000001.11:g.94174614T>A	TOPMed
rs748416865	p.Ile1015Phe	missense variant	-	NC_000001.11:g.94174612T>A	ExAC,gnomAD
rs779093680	p.Ile1015Met	missense variant	-	NC_000001.11:g.94174610A>C	ExAC,gnomAD
rs557659137	p.Val1018Ile	missense variant	-	NC_000001.11:g.94174603C>T	1000Genomes,ExAC,gnomAD
rs750263751	p.Ser1019Asn	missense variant	-	NC_000001.11:g.94174599C>T	ExAC,gnomAD
rs1193631650	p.Ser1019Arg	missense variant	-	NC_000001.11:g.94174600T>G	gnomAD
rs757203533	p.Leu1020Phe	missense variant	-	NC_000001.11:g.94174595C>A	ExAC,gnomAD
rs763917886	p.Val1022Ile	missense variant	-	NC_000001.11:g.94174591C>T	ExAC,TOPMed,gnomAD
rs763917886	p.Val1022Leu	missense variant	-	NC_000001.11:g.94174591C>G	ExAC,TOPMed,gnomAD
rs1468565937	p.Arg1024Gly	missense variant	-	NC_000001.11:g.94174585T>C	gnomAD
rs762553075	p.Leu1025Pro	missense variant	-	NC_000001.11:g.94174581A>G	ExAC
rs1225366339	p.Leu1027Phe	missense variant	-	NC_000001.11:g.94174576G>A	TOPMed
rs374087471	p.Ala1028Pro	missense variant	-	NC_000001.11:g.94174573C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs374087471	p.Ala1028Thr	missense variant	-	NC_000001.11:g.94174573C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1342078130	p.Pro1031Ser	missense variant	-	NC_000001.11:g.94174564G>A	gnomAD
NCI-TCGA novel	p.Glu1033Gln	missense variant	-	NC_000001.11:g.94174558C>G	NCI-TCGA
NCI-TCGA novel	p.Arg1034Lys	missense variant	-	NC_000001.11:g.94174554C>T	NCI-TCGA
rs1264168129	p.Arg1037Thr	missense variant	-	NC_000001.11:g.94174545C>G	TOPMed
rs1232917614	p.Asn1038Ser	missense variant	-	NC_000001.11:g.94174542T>C	gnomAD
rs575135282	p.Met1039Thr	missense variant	-	NC_000001.11:g.94174539A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3493525	p.Gly1040Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174537C>T	NCI-TCGA Cosmic
rs1328124807	p.Asn1043Asp	missense variant	-	NC_000001.11:g.94174528T>C	TOPMed,gnomAD
rs771456059	p.Leu1044Val	missense variant	-	NC_000001.11:g.94174525A>C	ExAC,gnomAD
rs747518741	p.Asp1045His	missense variant	-	NC_000001.11:g.94174522C>G	ExAC,TOPMed,gnomAD
rs773677855	p.Lys1046Arg	missense variant	-	NC_000001.11:g.94174518T>C	ExAC,TOPMed,gnomAD
COSM682643	p.Lys1049Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174508C>G	NCI-TCGA Cosmic
rs1161607972	p.Asn1050Ile	missense variant	-	NC_000001.11:g.94174506T>A	TOPMed
rs772591803	p.Pro1051Thr	missense variant	-	NC_000001.11:g.94174504G>T	ExAC,gnomAD
rs772591803	p.Pro1051Ser	missense variant	-	NC_000001.11:g.94174504G>A	ExAC,gnomAD
rs368898771	p.Val1056Phe	missense variant	-	NC_000001.11:g.94174489C>A	ESP,ExAC,TOPMed,gnomAD
rs368898771	p.Val1056Ile	missense variant	-	NC_000001.11:g.94174489C>T	ESP,ExAC,TOPMed,gnomAD
rs755321039	p.Asn1057Ile	missense variant	-	NC_000001.11:g.94174485T>A	ExAC,gnomAD
rs779287904	p.Asn1057Asp	missense variant	-	NC_000001.11:g.94174486T>C	ExAC,gnomAD
rs1392998839	p.Arg1058Lys	missense variant	-	NC_000001.11:g.94174482C>T	gnomAD
COSM3806164	p.Asp1060Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174477C>A	NCI-TCGA Cosmic
rs749375661	p.Asp1060Gly	missense variant	-	NC_000001.11:g.94174476T>C	ExAC,gnomAD
rs751482923	p.Ala1061Val	missense variant	-	NC_000001.11:g.94174473G>A	ExAC,TOPMed,gnomAD
rs141653334	p.Ala1061Ser	missense variant	-	NC_000001.11:g.94174474C>A	ESP,ExAC,TOPMed,gnomAD
rs141653334	p.Ala1061Thr	missense variant	-	NC_000001.11:g.94174474C>T	ESP,ExAC,TOPMed,gnomAD
RCV000203045	p.Ala1061Thr	missense variant	-	NC_000001.11:g.94174474C>T	ClinVar
rs149534929	p.Thr1063Ala	missense variant	-	NC_000001.11:g.94174468T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758203668	p.Thr1064Ala	missense variant	-	NC_000001.11:g.94174465T>C	ExAC,gnomAD
rs1454616391	p.Val1065Leu	missense variant	-	NC_000001.11:g.94174462C>G	gnomAD
rs138109111	p.Cys1066Phe	missense variant	-	NC_000001.11:g.94174458C>A	ESP,ExAC,TOPMed,gnomAD
rs765843133	p.Lys1068Arg	missense variant	-	NC_000001.11:g.94174452T>C	ExAC,TOPMed,gnomAD
rs765843133	p.Lys1068Thr	missense variant	-	NC_000001.11:g.94174452T>G	ExAC,TOPMed,gnomAD
rs761200097	p.Gly1071Val	missense variant	-	NC_000001.11:g.94174443C>A	ExAC,TOPMed,gnomAD
rs750287257	p.Asp1073Gly	missense variant	-	NC_000001.11:g.94174437T>C	ExAC,TOPMed,gnomAD
rs765229411	p.Leu1077Pro	missense variant	-	NC_000001.11:g.94174425A>G	gnomAD
rs1373411735	p.Gln1078Arg	missense variant	-	NC_000001.11:g.94174422T>C	gnomAD
rs374847892	p.Lys1079Glu	missense variant	-	NC_000001.11:g.94174420T>C	ESP,ExAC,TOPMed,gnomAD
rs1420209185	p.Gln1081Arg	missense variant	-	NC_000001.11:g.94174413T>C	TOPMed
rs768904468	p.Asp1082Val	missense variant	-	NC_000001.11:g.94174410T>A	ExAC,TOPMed,gnomAD
rs768904468	p.Asp1082Gly	missense variant	-	NC_000001.11:g.94174410T>C	ExAC,TOPMed,gnomAD
rs749516788	p.Lys1083Arg	missense variant	-	NC_000001.11:g.94174407T>C	ExAC,gnomAD
COSM3419600	p.Gln1084Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174405G>C	NCI-TCGA Cosmic
rs769786846	p.Tyr1085Asp	missense variant	-	NC_000001.11:g.94174402A>C	ExAC,gnomAD
rs902250842	p.Tyr1085Phe	missense variant	-	NC_000001.11:g.94174401T>A	TOPMed
rs370754867	p.Gln1087Arg	missense variant	-	NC_000001.11:g.94174395T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1087Glu	missense variant	-	NC_000001.11:g.94174396G>C	NCI-TCGA
COSM3985326	p.Leu1090Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174386A>G	NCI-TCGA Cosmic
rs777693204	p.Leu1090Val	missense variant	-	NC_000001.11:g.94174387G>C	ExAC,gnomAD
rs1031088081	p.Thr1095Ala	missense variant	-	NC_000001.11:g.94174372T>C	gnomAD
rs752474144	p.Met1096Val	missense variant	-	NC_000001.11:g.94174369T>C	ExAC,TOPMed,gnomAD
rs778728466	p.Ile1097Val	missense variant	-	NC_000001.11:g.94174366T>C	ExAC,TOPMed,gnomAD
rs754627456	p.Met1098Ile	missense variant	-	NC_000001.11:g.94174361C>A	ExAC,gnomAD
rs1283617034	p.Ser1100Arg	missense variant	-	NC_000001.11:g.94174355A>C	TOPMed,gnomAD
rs753460434	p.Ser1100Gly	missense variant	-	NC_000001.11:g.94174357T>C	ExAC,TOPMed,gnomAD
rs765861631	p.Ala1101Thr	missense variant	-	NC_000001.11:g.94174354C>T	ExAC,gnomAD
rs1353483067	p.Gln1103His	missense variant	-	NC_000001.11:g.94174346C>A	gnomAD
rs750890180	p.Glu1104Asp	missense variant	-	NC_000001.11:g.94174343T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1104Lys	missense variant	-	NC_000001.11:g.94174345C>T	NCI-TCGA
rs768127300	p.Gly1106Arg	missense variant	-	NC_000001.11:g.94174339C>G	ExAC,TOPMed,gnomAD
rs768127300	p.Gly1106Arg	missense variant	-	NC_000001.11:g.94174339C>T	ExAC,TOPMed,gnomAD
rs774830651	p.Thr1109Arg	missense variant	-	NC_000001.11:g.94174329G>C	ExAC,gnomAD
rs774830651	p.Thr1109Lys	missense variant	-	NC_000001.11:g.94174329G>T	ExAC,gnomAD
rs1408087253	p.Ser1110Arg	missense variant	-	NC_000001.11:g.94174325G>T	gnomAD
NCI-TCGA novel	p.Ser1110Arg	missense variant	-	NC_000001.11:g.94174327T>G	NCI-TCGA
rs1162055095	p.Leu1111Phe	missense variant	-	NC_000001.11:g.94174324G>A	gnomAD
rs1474549861	p.Gln1112Glu	missense variant	-	NC_000001.11:g.94174321G>C	gnomAD
rs763186439	p.Ile1113Met	missense variant	-	NC_000001.11:g.94174316A>C	ExAC,gnomAD
rs1278927711	p.Ser1114Thr	missense variant	-	NC_000001.11:g.94174314C>G	gnomAD
rs1462799940	p.Ser1114Arg	missense variant	-	NC_000001.11:g.94174313A>T	TOPMed
rs1264025996	p.Ser1114Arg	missense variant	-	NC_000001.11:g.94174315T>G	TOPMed
rs775591069	p.Gly1115Arg	missense variant	-	NC_000001.11:g.94174312C>T	ExAC,gnomAD
rs1303951915	p.Ile1119Asn	missense variant	-	NC_000001.11:g.94174299A>T	gnomAD
rs149005277	p.Ile1119Val	missense variant	-	NC_000001.11:g.94174300T>C	ESP,ExAC,TOPMed,gnomAD
rs1218232662	p.Asn1120Ser	missense variant	-	NC_000001.11:g.94174296T>C	gnomAD
rs781304449	p.Ala1121Gly	missense variant	-	NC_000001.11:g.94174293G>C	ExAC,gnomAD
rs771974492	p.Thr1122Ile	missense variant	-	NC_000001.11:g.94174290G>A	ExAC,gnomAD
rs1178887827	p.Gln1123Ter	stop gained	-	NC_000001.11:g.94174288G>A	TOPMed
rs778725286	p.Lys1126Thr	missense variant	-	NC_000001.11:g.94174278T>G	ExAC
rs1295018801	p.Tyr1128His	missense variant	-	NC_000001.11:g.94174273A>G	gnomAD
rs753908262	p.Pro1131Ser	missense variant	-	NC_000001.11:g.94174264G>A	ExAC,gnomAD
COSM3493524	p.Glu1137Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174246C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1137Asp	missense variant	-	NC_000001.11:g.94174244C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1137Ter	stop gained	-	NC_000001.11:g.94174246C>A	NCI-TCGA
rs890306926	p.Ala1138Ser	missense variant	-	NC_000001.11:g.94174243C>A	TOPMed,gnomAD
rs890306926	p.Ala1138Pro	missense variant	-	NC_000001.11:g.94174243C>G	TOPMed,gnomAD
rs753470857	p.Ala1138Glu	missense variant	-	NC_000001.11:g.94174242G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1138Gly	missense variant	-	NC_000001.11:g.94174242G>C	NCI-TCGA
rs755891699	p.Ser1139Phe	missense variant	-	NC_000001.11:g.94174239G>A	ExAC,gnomAD
rs779574171	p.Ser1139Thr	missense variant	-	NC_000001.11:g.94174240A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1140Lys	missense variant	-	NC_000001.11:g.94174237C>T	NCI-TCGA
NCI-TCGA novel	p.Arg1141Gly	missense variant	-	NC_000001.11:g.94174234T>C	NCI-TCGA
COSM6127809	p.Arg1142Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174230C>A	NCI-TCGA Cosmic
rs767180219	p.Arg1142Gln	missense variant	-	NC_000001.11:g.94174230C>T	ExAC,TOPMed,gnomAD
rs767180219	p.Arg1142Pro	missense variant	-	NC_000001.11:g.94174230C>G	ExAC,TOPMed,gnomAD
rs749933468	p.Arg1142Trp	missense variant	-	NC_000001.11:g.94174231G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1144Leu	missense variant	-	NC_000001.11:g.94174224G>A	NCI-TCGA
COSM913481	p.Asp1145Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174222C>A	NCI-TCGA Cosmic
rs1420698561	p.Tyr1147Cys	missense variant	-	NC_000001.11:g.94174215T>C	gnomAD
rs762374064	p.Pro1148Ser	missense variant	-	NC_000001.11:g.94174213G>A	ExAC,gnomAD
rs149136237	p.Ala1150Ser	missense variant	-	NC_000001.11:g.94174207C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149136237	p.Ala1150Thr	missense variant	-	NC_000001.11:g.94174207C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775991390	p.Arg1153Lys	missense variant	-	NC_000001.11:g.94174197C>T	ExAC
rs765362990	p.Ala1154Thr	missense variant	-	NC_000001.11:g.94174195C>T	ExAC,gnomAD
rs547690695	p.Ala1154Val	missense variant	-	NC_000001.11:g.94174194G>A	TOPMed,gnomAD
rs776660844	p.Pro1155His	missense variant	-	NC_000001.11:g.94174191G>T	ExAC,TOPMed,gnomAD
rs759801346	p.Pro1155Thr	missense variant	-	NC_000001.11:g.94174192G>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1156Ile	missense variant	-	NC_000001.11:g.94174188C>A	NCI-TCGA
rs1273836863	p.Thr1157Ala	missense variant	-	NC_000001.11:g.94174186T>C	gnomAD
rs771029896	p.Pro1160Leu	missense variant	-	NC_000001.11:g.94174176G>A	ExAC,TOPMed,gnomAD
rs1306779906	p.His1162Gln	missense variant	-	NC_000001.11:g.94174169A>T	gnomAD
rs760872144	p.His1162Arg	missense variant	-	NC_000001.11:g.94174170T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1163Ter	stop gained	-	NC_000001.11:g.94174167C>T	NCI-TCGA
rs1293257219	p.Thr1164Ala	missense variant	-	NC_000001.11:g.94174165T>C	gnomAD
rs1216092550	p.Thr1164Ile	missense variant	-	NC_000001.11:g.94174164G>A	gnomAD
rs190842488	p.Thr1165Ile	missense variant	-	NC_000001.11:g.94174161G>A	1000Genomes,gnomAD
rs375250590	p.His1170Tyr	missense variant	-	NC_000001.11:g.94174147G>A	ESP,ExAC,TOPMed,gnomAD
rs749029424	p.Ala1171Thr	missense variant	-	NC_000001.11:g.94174144C>T	ExAC,gnomAD
rs749029424	p.Ala1171Pro	missense variant	-	NC_000001.11:g.94174144C>G	ExAC,gnomAD
rs960301749	p.Pro1172Ala	missense variant	-	NC_000001.11:g.94174141G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ile1173Ser	missense variant	-	NC_000001.11:g.94174137A>C	NCI-TCGA
rs1353258829	p.Ile1174Val	missense variant	-	NC_000001.11:g.94174135T>C	TOPMed,gnomAD
rs1480253906	p.Ser1175Asn	missense variant	-	NC_000001.11:g.94174131C>T	TOPMed
rs779950205	p.Arg1177Ser	missense variant	-	NC_000001.11:g.94174124C>G	ExAC
rs1429452415	p.Gly1178Ala	missense variant	-	NC_000001.11:g.94174122C>G	gnomAD
COSM4758936	p.Asn1179Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174120T>C	NCI-TCGA Cosmic
rs142634198	p.Asn1179His	missense variant	-	NC_000001.11:g.94174120T>G	ESP,ExAC
rs1156732552	p.Asn1179Ser	missense variant	-	NC_000001.11:g.94174119T>C	gnomAD
rs1394815383	p.Glu1180Lys	missense variant	-	NC_000001.11:g.94174117C>T	gnomAD
rs745550137	p.Pro1183Thr	missense variant	-	NC_000001.11:g.94174108G>T	ExAC,gnomAD
rs1431147574	p.Ala1184Thr	missense variant	-	NC_000001.11:g.94174105C>T	TOPMed
rs1455700803	p.Pro1186Thr	missense variant	-	NC_000001.11:g.94174099G>T	gnomAD
rs780804450	p.Pro1186Leu	missense variant	-	NC_000001.11:g.94174098G>A	ExAC,gnomAD
rs1480300156	p.Ala1189Val	missense variant	-	NC_000001.11:g.94174089G>A	gnomAD
rs1206407142	p.Val1190Met	missense variant	-	NC_000001.11:g.94174087C>T	gnomAD
rs1302346358	p.Pro1192Ser	missense variant	-	NC_000001.11:g.94174081G>A	gnomAD
rs11165091	p.Pro1192Leu	missense variant	-	NC_000001.11:g.94174080G>A	gnomAD
COSM294133	p.Gly1193Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174077C>A	NCI-TCGA Cosmic
rs532055279	p.Thr1194Ala	missense variant	-	NC_000001.11:g.94174075T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp1195Asn	missense variant	-	NC_000001.11:g.94174072C>T	NCI-TCGA
rs759000529	p.His1196Asp	missense variant	-	NC_000001.11:g.94174069G>C	ExAC,TOPMed,gnomAD
rs759713700	p.Leu1201Pro	missense variant	-	NC_000001.11:g.94174053A>G	ExAC,TOPMed,gnomAD
rs144585524	p.Val1202Leu	missense variant	-	NC_000001.11:g.94174051C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs144585524	p.Val1202Met	missense variant	-	NC_000001.11:g.94174051C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1010627894	p.Val1203Met	missense variant	-	NC_000001.11:g.94174048C>T	TOPMed
rs201618253	p.Met1206Val	missense variant	-	NC_000001.11:g.94174039T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201618253	p.Met1206Leu	missense variant	-	NC_000001.11:g.94174039T>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3866276	p.Asp1208Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174032T>G	NCI-TCGA Cosmic
rs775110620	p.Asp1208Asn	missense variant	-	NC_000001.11:g.94174033C>T	ExAC,gnomAD
rs769738640	p.Pro1209Ser	missense variant	-	NC_000001.11:g.94174030G>A	ExAC,gnomAD
rs745460571	p.Pro1209Arg	missense variant	-	NC_000001.11:g.94174029G>C	ExAC,gnomAD
rs780996785	p.Asp1210Glu	missense variant	-	NC_000001.11:g.94174025G>C	ExAC,TOPMed,gnomAD
COSM3493523	p.Lys1211Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174024T>C	NCI-TCGA Cosmic
rs757039277	p.Ala1212Thr	missense variant	-	NC_000001.11:g.94174021C>T	ExAC,gnomAD
rs746489015	p.Ala1212Glu	missense variant	-	NC_000001.11:g.94174020G>T	ExAC,TOPMed,gnomAD
rs777389940	p.Ser1213Ala	missense variant	-	NC_000001.11:g.94174018A>C	ExAC,TOPMed,gnomAD
rs1237831137	p.Ser1213Leu	missense variant	-	NC_000001.11:g.94174017G>A	gnomAD
rs758799135	p.Cys1215Tyr	missense variant	-	NC_000001.11:g.94174011C>T	ExAC,TOPMed,gnomAD
rs765536759	p.Pro1216Ser	missense variant	-	NC_000001.11:g.94174009G>A	ExAC,TOPMed,gnomAD
rs753990016	p.Gln1218Lys	missense variant	-	NC_000001.11:g.94174003G>T	ExAC,gnomAD
rs1198371008	p.Gly1221Arg	missense variant	-	NC_000001.11:g.94173994C>G	TOPMed
rs1416983557	p.Pro1223Leu	missense variant	-	NC_000001.11:g.94173987G>A	gnomAD
COSM3419599	p.Glu1225Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94173982C>A	NCI-TCGA Cosmic
rs1158238771	p.Glu1225Gly	missense variant	-	NC_000001.11:g.94173981T>C	gnomAD
COSM426864	p.Asp1226Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173979C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1227Thr	missense variant	-	NC_000001.11:g.94173976A>T	NCI-TCGA
COSM3806163	p.Glu1228Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173973C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1228Asp	missense variant	-	NC_000001.11:g.94173971C>A	NCI-TCGA
rs1451830555	p.Glu1229Lys	missense variant	-	NC_000001.11:g.94173970C>T	gnomAD
COSM6064495	p.Pro1233Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173958G>C	NCI-TCGA Cosmic
rs1165709629	p.Pro1233Ser	missense variant	-	NC_000001.11:g.94173958G>A	TOPMed
rs1483897043	p.Pro1233Arg	missense variant	-	NC_000001.11:g.94173957G>C	TOPMed,gnomAD
rs1159924960	p.Asp1234Tyr	missense variant	-	NC_000001.11:g.94173955C>A	gnomAD
rs761013727	p.Asp1234Gly	missense variant	-	NC_000001.11:g.94173954T>C	ExAC,TOPMed,gnomAD
rs1159924960	p.Asp1234Asn	missense variant	-	NC_000001.11:g.94173955C>T	gnomAD
rs529456105	p.Met1238Leu	missense variant	-	NC_000001.11:g.94173943T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs529456105	p.Met1238Val	missense variant	-	NC_000001.11:g.94173943T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1240His	missense variant	-	NC_000001.11:g.94173935C>G	NCI-TCGA
rs1256534528	p.Arg1243Gly	missense variant	-	NC_000001.11:g.94173928T>C	gnomAD
rs762753584	p.Arg1246Gly	missense variant	-	NC_000001.11:g.94173919G>C	ExAC,TOPMed,gnomAD
rs769645920	p.Arg1246Leu	missense variant	-	NC_000001.11:g.94173918C>A	ExAC,TOPMed,gnomAD
rs769645920	p.Arg1246Gln	missense variant	-	NC_000001.11:g.94173918C>T	ExAC,TOPMed,gnomAD
rs762753584	p.Arg1246Ter	stop gained	-	NC_000001.11:g.94173919G>A	ExAC,TOPMed,gnomAD
rs759401331	p.Gln1248His	missense variant	-	NC_000001.11:g.94173911T>A	ExAC,gnomAD
rs776627518	p.Gln1249Ter	stop gained	-	NC_000001.11:g.94173910G>A	ExAC,gnomAD
rs1291940231	p.Phe1250Leu	missense variant	-	NC_000001.11:g.94173905A>C	gnomAD
rs199687794	p.Glu1251Asp	missense variant	-	NC_000001.11:g.94173902T>G	1000Genomes,ExAC
rs759862562	p.Glu1254Gly	missense variant	-	NC_000001.11:g.94173894T>C	ExAC,TOPMed,gnomAD
rs772383920	p.Glu1254Lys	missense variant	-	NC_000001.11:g.94173895C>T	ExAC,TOPMed,gnomAD
rs748541171	p.Gly1255Ser	missense variant	-	NC_000001.11:g.94173892C>T	ExAC,gnomAD
rs1999272	p.Gly1255Asp	missense variant	-	NC_000001.11:g.94173891C>T	UniProt,dbSNP
VAR_038553	p.Gly1255Asp	missense variant	-	NC_000001.11:g.94173891C>T	UniProt
rs1999272	p.Gly1255Asp	missense variant	-	NC_000001.11:g.94173891C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1460959315	p.Glu1256Lys	missense variant	-	NC_000001.11:g.94173889C>T	TOPMed,gnomAD
COSM5526873	p.Pro1258Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173883G>A	NCI-TCGA Cosmic
COSM4010714	p.Gln1259Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173879T>C	NCI-TCGA Cosmic
rs1230470644	p.Gln1259Pro	missense variant	-	NC_000001.11:g.94173879T>G	gnomAD
rs1415719702	p.Gln1259Ter	stop gained	-	NC_000001.11:g.94173880G>A	gnomAD
rs372477728	p.Phe1260Val	missense variant	-	NC_000001.11:g.94173877A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1261CysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.94173874_94173875insA	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	UNIPROT
C0158646	Cleft palate with cleft lip	disease	ORPHANET
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE;CTD_human
C0751958	Lymphoma, Lymphocytic, Intermediate	disease	CTD_human
C1861538	Nonsyndromic cleft lip with or without cleft palate	phenotype	CLINVAR

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005096	GTPase activator activity	IEA
GO:0030165	PDZ domain binding	IDA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007266	Rho protein signal transduction	TAS
GO:0043547	positive regulation of GTPase activity	IEA
GO:0051056	regulation of small GTPase mediated signal transduction	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	TAS
GO:0032991	protein-containing complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-194315	Signaling by Rho GTPases	TAS
R-HSA-194840	Rho GTPase cycle	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
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 ARHGAP29 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 ARHGAP29 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 F] results in decreased expression of ARHGAP29 mRNA	28628672
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in increased ADP-ribosylation of ARHGAP29 protein	31165168
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of ARHGAP29 mRNA	23196670
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane affects the expression of ARHGAP29 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 decreased expression of ARHGAP29 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 ARHGAP29 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of ARHGAP29 mRNA	19150397
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of ARHGAP29 mRNA	24449571
D047310	Apigenin	Apigenin results in increased expression of ARHGAP29 mRNA	22359648
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ARHGAP29 mRNA	22228805
D001663	Bilirubin	Bilirubin results in decreased expression of ARHGAP29 mRNA	20196124
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 ARHGAP29 mRNA	28628672
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ARHGAP29 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of ARHGAP29 mRNA	29275510
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 ARHGAP29 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of ARHGAP29 mRNA	26063408; 30951980;
C006780	bisphenol A	bisphenol A results in decreased expression of ARHGAP29 mRNA	25181051; 30816183;
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ARHGAP29 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in increased expression of ARHGAP29 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of ARHGAP29 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of ARHGAP29 mRNA	26472689
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of ARHGAP29 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of ARHGAP29 mRNA]	31150632
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of ARHGAP29 mRNA	19320972
C018021	cobaltous chloride	cobaltous chloride results in increased expression of ARHGAP29 mRNA	21139344
D003042	Cocaine	Cocaine results in decreased expression of ARHGAP29 mRNA	12629581
D019327	Copper Sulfate	Copper Sulfate results in increased expression of ARHGAP29 mRNA	19549813
D016578	Crack Cocaine	Crack Cocaine results in increased expression of ARHGAP29 mRNA	12629581
D016572	Cyclosporine	Cyclosporine results in decreased expression of ARHGAP29 mRNA	27989131
D016572	Cyclosporine	Cyclosporine results in increased expression of ARHGAP29 mRNA	25562108
D000077209	Decitabine	Decitabine affects the methylation of ARHGAP29 promoter	17488656
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 ARHGAP29 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 ARHGAP29 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 F] results in decreased expression of ARHGAP29 mRNA	28628672
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of ARHGAP29 mRNA	31163220
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of ARHGAP29 mRNA	21527772
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 decreased expression of ARHGAP29 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 ARHGAP29 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of ARHGAP29 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of ARHGAP29 mRNA	29391264
C118739	entinostat	entinostat results in decreased expression of ARHGAP29 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 decreased expression of ARHGAP29 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of ARHGAP29 mRNA	22079256
D004958	Estradiol	EGF protein inhibits the reaction [Estradiol results in decreased expression of ARHGAP29 mRNA]	24758408
D004958	Estradiol	Estradiol results in decreased expression of ARHGAP29 mRNA	24758408
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of ARHGAP29 mRNA	23129252
D005485	Flutamide	Flutamide results in decreased expression of ARHGAP29 mRNA	24793618
D000077340	Fluvastatin	[Zoledronic Acid co-treated with Fluvastatin] results in increased expression of ARHGAP29 mRNA	16996129
D005492	Folic Acid	Folic Acid affects the expression of ARHGAP29 mRNA	17320366
D004397	Fonofos	Fonofos results in increased methylation of ARHGAP29 promoter	22847954
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of ARHGAP29 mRNA	22634610
D006820	Hyaluronic Acid	[Hyaluronic Acid analog co-treated with Hydrogen Peroxide] results in increased expression of ARHGAP29 protein	23178681
D006820	Hyaluronic Acid	Hyaluronic Acid analog results in increased expression of ARHGAP29 protein	23178681
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of ARHGAP29 mRNA	20044591
D006861	Hydrogen Peroxide	[Hyaluronic Acid analog co-treated with Hydrogen Peroxide] results in increased expression of ARHGAP29 protein	23178681
C503753	Indolinone A	Indolinone A results in increased expression of ARHGAP29 mRNA	15712243
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 ARHGAP29 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 ARHGAP29 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 F] results in decreased expression of ARHGAP29 mRNA	28628672
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of ARHGAP29 mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of ARHGAP29 mRNA	27392435
D048628	Ketolides	Ketolides analog results in decreased expression of ARHGAP29 mRNA	24967691
D019344	Lactic Acid	Lactic Acid results in decreased expression of ARHGAP29 mRNA	30851411
D007854	Lead	Lead affects the expression of ARHGAP29 mRNA	28903495
D000077339	Leflunomide	Leflunomide results in increased expression of ARHGAP29 mRNA	28988120
D018021	Lithium Chloride	Lithium Chloride results in increased expression of ARHGAP29 mRNA	15711924
D008694	Methamphetamine	Methamphetamine results in increased expression of ARHGAP29 mRNA	26307267
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of ARHGAP29 mRNA	23179753
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of ARHGAP29 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of ARHGAP29 mRNA	25583101
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of ARHGAP29 mRNA	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of ARHGAP29 mRNA	20188158
C016030	pantogab	pantogab results in decreased expression of ARHGAP29 mRNA	17379144
D010278	Parathion	Parathion results in increased methylation of ARHGAP29 promoter	22847954
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of ARHGAP29 mRNA	27153767
D010634	Phenobarbital	Phenobarbital affects the expression of ARHGAP29 mRNA	23091169
C049032	pinosylvin	pinosylvin results in decreased expression of ARHGAP29 mRNA	23333577
C006253	pirinixic acid	pirinixic acid results in decreased expression of ARHGAP29 mRNA	18445702
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of ARHGAP29 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of ARHGAP29 mRNA	22079256
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of ARHGAP29 mRNA	28903501
D011794	Quercetin	Quercetin affects the expression of ARHGAP29 mRNA	21632981
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of ARHGAP29 mRNA	14699072
C116926	rofecoxib	rofecoxib results in decreased expression of ARHGAP29 mRNA	17070997
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of ARHGAP29 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of ARHGAP29 mRNA	25895662
D019821	Simvastatin	Simvastatin results in decreased expression of ARHGAP29 mRNA	17428261
D000077210	Sunitinib	Sunitinib results in increased expression of ARHGAP29 mRNA	31533062
D013629	Tamoxifen	Tamoxifen affects the expression of ARHGAP29 mRNA	14699072
C012568	terbufos	terbufos results in increased methylation of ARHGAP29 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ARHGAP29 mRNA	22574217
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ARHGAP29 mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of ARHGAP29 mRNA	25613284
C483909	torcetrapib	torcetrapib results in increased expression of ARHGAP29 mRNA	23228038
C012589	trichostatin A	trichostatin A results in increased expression of ARHGAP29 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of ARHGAP29 mRNA	30510588
D000077288	Troglitazone	Troglitazone results in decreased expression of ARHGAP29 mRNA	28973697
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 ARHGAP29 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased methylation of ARHGAP29 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of ARHGAP29 mRNA	24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of ARHGAP29 mRNA	24896083
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of ARHGAP29 gene	25560391
D000077211	Zoledronic Acid	[Zoledronic Acid co-treated with Fluvastatin] results in increased expression of ARHGAP29 mRNA	16996129

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0903	Direct protein sequencing
KW-0343	GTPase activation
KW-0479	Metal-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR027267	AH/BAR_dom_sf
IPR031160	F_BAR
IPR002219	PE/DAG-bd
IPR008936	Rho_GTPase_activation_prot
IPR000198	RhoGAP_dom

PROSITE

PROSITE ID	PROSITE Term
PS51741	F_BAR
PS50238	RHOGAP
PS00479	ZF_DAG_PE_1
PS50081	ZF_DAG_PE_2

Pfam

Pfam ID	Pfam Term
PF00130	C1_1
PF00620	RhoGAP

Gene: ARHGAP29

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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