CleftGeneDB-Search

Gene: RHPN2

Basic information

Tag	Content
Uniprot ID	Q8IUC4; B2RCG8; B3KUY8; B4DUS7; Q8N3T7; Q8N9D6; Q8NE33; Q96RU1;
Entrez ID	85415
Genbank protein ID	AAH36447.1; BAG53600.1; CAC87939.1; BAG62439.1; AAK58588.1; BAG37565.1; BAC04471.1; AAQ04062.1; CAD38597.1;
Genbank nucleotide ID	NM_033103.4
Ensembl protein ID	ENSP00000254260
Ensembl nucleotide ID	ENSG00000131941
Gene name	Rhophilin-2
Gene symbol	RHPN2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	27033726
Functional description	Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity.
Sequence	MTDALLPAAP QPLEKENDGY FRKGCNPLAQ TGRSKLQNQR AALNQQILKA VRMRTGAENL 60 LKVATNSKVR EQVRLELSFV NSDLQMLKEE LEGLNISVGV YQNTEEAFTI PLIPLGLKET 120 KDVDFAVVLK DFILEHYSED GYLYEDEIAD LMDLRQACRT PSRDEAGVEL LMTYFIQLGF 180 VESRFFPPTR QMGLLFTWYD SLTGVPVSQQ NLLLEKASVL FNTGALYTQI GTRCDRQTQA 240 GLESAIDAFQ RAAGVLNYLK DTFTHTPSYD MSPAMLSVLV KMMLAQAQES VFEKISLPGI 300 RNEFFMLVKV AQEAAKVGEV YQQLHAAMSQ APVKENIPYS WASLACVKAH HYAALAHYFT 360 AILLIDHQVK PGTDLDHQEK CLSQLYDHMP EGLTPLATLK NDQQRRQLGK SHLRRAMAHH 420 EESVREASLC KKLRSIEVLQ KVLCAAQERS RLTYAQHQEE DDLLNLIDAP SVVAKTEQEV 480 DIILPQFSKL TVTDFFQKLG PLSVFSANKR WTPPRSIRFT AEEGDLGFTL RGNAPVQVHF 540 LDPYCSASVA GAREGDYIVS IQLVDCKWLT LSEVMKLLKS FGEDEIEMKV VSLLDSTSSM 600 HNKSATYSVG MQKTYSMICL AIDDDDKTDK TKKISKKLSF LSWGTNKNRQ KSASTLCLPS 660 VGAARPQVKK KLPSPFSLLN SDSSWY 686

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2VSV

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	RHPN2	102189513	A0A452E2S5	Capra hircus	Prediction	More>>
1:1 ortholog	RHPN2	85415	Q8IUC4	Homo sapiens	Publication	More>>
1:1 ortholog	Rhpn2	52428	Q8BWR8	Mus musculus	Prediction	More>>
1:1 ortholog			A0A4X1TSG5	Sus scrofa	Prediction	More>>
1:1 ortholog	Rhpn2	308516	D4A8N7	Rattus norvegicus	Prediction	More>>
1:1 ortholog	rhpn2		F1QEF4	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
RHPN2	rs73039426	WES and Sanger sequencing	29949196
RHPN2	rs73039428	Genotyping and GWAS	27033726

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1402521824	p.Thr2Ala	missense variant	-	NC_000019.10:g.33064849T>C	gnomAD
rs766619741	p.Asp3Asn	missense variant	-	NC_000019.10:g.33064846C>T	ExAC,gnomAD
rs1393531881	p.Ala4Pro	missense variant	-	NC_000019.10:g.33064843C>G	gnomAD
rs1167853267	p.Ala8Val	missense variant	-	NC_000019.10:g.33064830G>A	gnomAD
rs945697019	p.Ala9Val	missense variant	-	NC_000019.10:g.33064827G>A	TOPMed,gnomAD
rs1467051470	p.Ala9Thr	missense variant	-	NC_000019.10:g.33064828C>T	gnomAD
rs945697019	p.Ala9Asp	missense variant	-	NC_000019.10:g.33064827G>T	TOPMed,gnomAD
rs1386866915	p.Pro10His	missense variant	-	NC_000019.10:g.33064824G>T	TOPMed
rs760698706	p.Gln11Ter	stop gained	-	NC_000019.10:g.33064822G>A	ExAC,TOPMed,gnomAD
rs760698706	p.Gln11Lys	missense variant	-	NC_000019.10:g.33064822G>T	ExAC,TOPMed,gnomAD
rs1252855583	p.Pro12Thr	missense variant	-	NC_000019.10:g.33064819G>T	TOPMed,gnomAD
rs1184172670	p.Pro12Gln	missense variant	-	NC_000019.10:g.33064818G>T	gnomAD
rs1252855583	p.Pro12Ala	missense variant	-	NC_000019.10:g.33064819G>C	TOPMed,gnomAD
rs1248222881	p.Glu14Lys	missense variant	-	NC_000019.10:g.33064813C>T	TOPMed,gnomAD
rs1248222881	p.Glu14Gln	missense variant	-	NC_000019.10:g.33064813C>G	TOPMed,gnomAD
rs1345685342	p.Asn17Lys	missense variant	-	NC_000019.10:g.33064802G>T	TOPMed,gnomAD
rs926832944	p.Gly19Cys	missense variant	-	NC_000019.10:g.33064798C>A	TOPMed,gnomAD
rs1221175986	p.Gly19Val	missense variant	-	NC_000019.10:g.33064797C>A	gnomAD
rs926832944	p.Gly19Arg	missense variant	-	NC_000019.10:g.33064798C>G	TOPMed,gnomAD
rs926832944	p.Gly19Ser	missense variant	-	NC_000019.10:g.33064798C>T	TOPMed,gnomAD
rs768517276	p.Tyr20Ter	stop gained	-	NC_000019.10:g.33064793G>T	ExAC,gnomAD
rs1288591753	p.Tyr20Cys	missense variant	-	NC_000019.10:g.33064794T>C	gnomAD
rs1322162297	p.Tyr20His	missense variant	-	NC_000019.10:g.33064795A>G	gnomAD
rs1333604344	p.Arg22Pro	missense variant	-	NC_000019.10:g.33064788C>G	gnomAD
rs1297060271	p.Lys23Thr	missense variant	-	NC_000019.10:g.33064785T>G	TOPMed,gnomAD
rs1263813357	p.Cys25Tyr	missense variant	-	NC_000019.10:g.33044360C>T	TOPMed
NCI-TCGA novel	p.Asn26Thr	missense variant	-	NC_000019.10:g.33044357T>G	NCI-TCGA
rs750714554	p.Pro27Ser	missense variant	-	NC_000019.10:g.33044355G>A	ExAC,TOPMed,gnomAD
rs374008720	p.Ala29Thr	missense variant	-	NC_000019.10:g.33044349C>T	ESP,ExAC,TOPMed,gnomAD
rs761988957	p.Gln30Lys	missense variant	-	NC_000019.10:g.33044346G>T	ExAC,gnomAD
rs769804794	p.Gly32Ser	missense variant	-	NC_000019.10:g.33044340C>T	ExAC,gnomAD
rs143022039	p.Arg33Trp	missense variant	-	NC_000019.10:g.33044337G>A	ESP,TOPMed,gnomAD
rs776582819	p.Arg33Gln	missense variant	-	NC_000019.10:g.33044336C>T	ExAC,gnomAD
rs776582819	p.Arg33Leu	missense variant	-	NC_000019.10:g.33044336C>A	ExAC,gnomAD
rs776582819	p.Arg33Gln	missense variant	-	NC_000019.10:g.33044336C>T	NCI-TCGA
rs1290190560	p.Ser34Cys	missense variant	-	NC_000019.10:g.33044334T>A	gnomAD
COSM3970902	p.Lys35Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33044331T>C	NCI-TCGA Cosmic
rs193052485	p.Gln37Ter	stop gained	-	NC_000019.10:g.33044325G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746656887	p.Asn38His	missense variant	-	NC_000019.10:g.33044322T>G	ExAC,TOPMed,gnomAD
rs777610479	p.Ala41Pro	missense variant	-	NC_000019.10:g.33044313C>G	ExAC,TOPMed,gnomAD
rs777610479	p.Ala41Thr	missense variant	-	NC_000019.10:g.33044313C>T	ExAC,TOPMed,gnomAD
rs771685886	p.Ala41Gly	missense variant	-	NC_000019.10:g.33044312G>C	ExAC,gnomAD
rs747715669	p.Ile47Val	missense variant	-	NC_000019.10:g.33044295T>C	ExAC,gnomAD
rs566515980	p.Ala50Val	missense variant	-	NC_000019.10:g.33044285G>A	1000Genomes,TOPMed,gnomAD
rs566515980	p.Ala50Gly	missense variant	-	NC_000019.10:g.33044285G>C	1000Genomes,TOPMed,gnomAD
rs780380894	p.Val51Met	missense variant	-	NC_000019.10:g.33044283C>T	ExAC,TOPMed,gnomAD
rs780380894	p.Val51Leu	missense variant	-	NC_000019.10:g.33044283C>G	ExAC,TOPMed,gnomAD
rs371759693	p.Arg52Gln	missense variant	-	NC_000019.10:g.33044279C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750608992	p.Arg52Trp	missense variant	-	NC_000019.10:g.33044280G>A	NCI-TCGA
rs750608992	p.Arg52Trp	missense variant	-	NC_000019.10:g.33044280G>A	ExAC,TOPMed,gnomAD
rs757248354	p.Thr55Ile	missense variant	-	NC_000019.10:g.33044270G>A	ExAC,gnomAD
rs1490751231	p.Thr55Ala	missense variant	-	NC_000019.10:g.33044271T>C	gnomAD
rs765029887	p.Gly56Arg	missense variant	-	NC_000019.10:g.33044268C>T	ExAC,gnomAD
rs530284964	p.Ala57Val	missense variant	-	NC_000019.10:g.33044264G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs530284964	p.Ala57Val	missense variant	-	NC_000019.10:g.33044264G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1284077574	p.Asn59Ser	missense variant	-	NC_000019.10:g.33044258T>C	gnomAD
rs1339284608	p.Asn59Asp	missense variant	-	NC_000019.10:g.33044259T>C	gnomAD
rs1442475032	p.Leu60Pro	missense variant	-	NC_000019.10:g.33044255A>G	TOPMed
rs766246265	p.Lys62Arg	missense variant	-	NC_000019.10:g.33044249T>C	ExAC,gnomAD
rs1439730979	p.Val63Leu	missense variant	-	NC_000019.10:g.33026631C>G	gnomAD
rs1399491336	p.Ala64Ser	missense variant	-	NC_000019.10:g.33026628C>A	TOPMed,gnomAD
rs1399491336	p.Ala64Thr	missense variant	-	NC_000019.10:g.33026628C>T	TOPMed,gnomAD
rs781328826	p.Asn66Asp	missense variant	-	NC_000019.10:g.33026622T>C	ExAC,gnomAD
rs1470674201	p.Ser67Pro	missense variant	-	NC_000019.10:g.33026619A>G	gnomAD
rs757517763	p.Val69Leu	missense variant	-	NC_000019.10:g.33026613C>A	ExAC
rs28626308	p.Arg70Gln	missense variant	-	NC_000019.10:g.33026609C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751789809	p.Arg70Trp	missense variant	-	NC_000019.10:g.33026610G>A	ExAC,TOPMed,gnomAD
rs751789809	p.Arg70Gly	missense variant	-	NC_000019.10:g.33026610G>C	ExAC,TOPMed,gnomAD
rs758448454	p.Val73Met	missense variant	-	NC_000019.10:g.33026601C>T	ExAC
rs753804504	p.Arg74Trp	missense variant	-	NC_000019.10:g.33026598G>A	ExAC,TOPMed,gnomAD
rs766442171	p.Arg74Gln	missense variant	-	NC_000019.10:g.33026597C>T	ExAC,TOPMed,gnomAD
rs1206061717	p.Glu76Gly	missense variant	-	NC_000019.10:g.33026591T>C	gnomAD
rs760505643	p.Phe79Leu	missense variant	-	NC_000019.10:g.33026581G>T	ExAC,gnomAD
rs200757641	p.Val80Ala	missense variant	-	NC_000019.10:g.33026579A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs773144206	p.Val80Leu	missense variant	-	NC_000019.10:g.33026580C>G	ExAC,TOPMed,gnomAD
rs773144206	p.Val80Ile	missense variant	-	NC_000019.10:g.33026580C>T	ExAC,TOPMed,gnomAD
rs910999633	p.Asn81Ser	missense variant	-	NC_000019.10:g.33026576T>C	TOPMed
NCI-TCGA novel	p.Ser82Thr	missense variant	-	NC_000019.10:g.33026574A>T	NCI-TCGA
rs761510869	p.Asp83Ala	missense variant	-	NC_000019.10:g.33026570T>G	ExAC,gnomAD
rs1221894627	p.Gln85Ter	stop gained	-	NC_000019.10:g.33026565G>A	gnomAD
rs1215222866	p.Glu89Lys	missense variant	-	NC_000019.10:g.33026553C>T	gnomAD
NCI-TCGA novel	p.Glu90Asp	missense variant	-	NC_000019.10:g.33026548C>G	NCI-TCGA
rs1220002236	p.Glu92Lys	missense variant	-	NC_000019.10:g.33026544C>T	TOPMed
rs1220002236	p.Glu92Gln	missense variant	-	NC_000019.10:g.33026544C>G	TOPMed
rs770294209	p.Gly93Val	missense variant	-	NC_000019.10:g.33026540C>A	ExAC,gnomAD
rs144047918	p.Gly93Trp	missense variant	-	NC_000019.10:g.33026541C>A	ESP,ExAC,TOPMed,gnomAD
rs144047918	p.Gly93Arg	missense variant	-	NC_000019.10:g.33026541C>T	ESP,ExAC,TOPMed,gnomAD
rs1156441249	p.Ile96Val	missense variant	-	NC_000019.10:g.33026532T>C	gnomAD
rs1418865444	p.Ile96Thr	missense variant	-	NC_000019.10:g.33026531A>G	gnomAD
rs746177479	p.Ser97Leu	missense variant	-	NC_000019.10:g.33026528G>A	ExAC,gnomAD
rs747224296	p.Gly99Val	missense variant	-	NC_000019.10:g.33026522C>A	ExAC,TOPMed,gnomAD
rs1243047719	p.Gly99Ser	missense variant	-	NC_000019.10:g.33026523C>T	gnomAD
rs747224296	p.Gly99Asp	missense variant	-	NC_000019.10:g.33026522C>T	ExAC,TOPMed,gnomAD
rs370875204	p.Val100Ile	missense variant	-	NC_000019.10:g.33026520C>T	ESP,ExAC,TOPMed,gnomAD
rs1176513172	p.Val100Ala	missense variant	-	NC_000019.10:g.33026519A>G	TOPMed
rs752854983	p.Tyr101Asn	missense variant	-	NC_000019.10:g.33026517A>T	ExAC,gnomAD
rs1386748314	p.Gln102His	missense variant	-	NC_000019.10:g.33026512C>A	TOPMed,gnomAD
rs1360418355	p.Gln102Arg	missense variant	-	NC_000019.10:g.33026513T>C	gnomAD
rs1443457738	p.Gln102Ter	stop gained	-	NC_000019.10:g.33026514G>A	gnomAD
NCI-TCGA novel	p.Gln102Glu	missense variant	-	NC_000019.10:g.33026514G>C	NCI-TCGA
rs1391897225	p.Asn103Tyr	missense variant	-	NC_000019.10:g.33026511T>A	TOPMed
rs988692757	p.Asn103Lys	missense variant	-	NC_000019.10:g.33026509G>T	TOPMed,gnomAD
rs780069980	p.Asn103Ser	missense variant	-	NC_000019.10:g.33026510T>C	ExAC,gnomAD
rs1173930435	p.Thr104Ile	missense variant	-	NC_000019.10:g.33026507G>A	TOPMed,gnomAD
rs1173930435	p.Thr104Lys	missense variant	-	NC_000019.10:g.33026507G>T	TOPMed,gnomAD
rs1390398014	p.Glu106Val	missense variant	-	NC_000019.10:g.33021644T>A	gnomAD
rs1238200730	p.Ala107Glu	missense variant	-	NC_000019.10:g.33021641G>T	TOPMed
rs759098209	p.Ala107Thr	missense variant	-	NC_000019.10:g.33021642C>T	ExAC,gnomAD
rs777147380	p.Thr109Met	missense variant	-	NC_000019.10:g.33021635G>A	ExAC,TOPMed,gnomAD
rs1378475032	p.Pro111Leu	missense variant	-	NC_000019.10:g.33021629G>A	TOPMed
NCI-TCGA novel	p.Pro111Ser	missense variant	-	NC_000019.10:g.33021630G>A	NCI-TCGA
rs1431759687	p.Leu112Val	missense variant	-	NC_000019.10:g.33021627G>C	TOPMed,gnomAD
rs1449666202	p.Pro114Leu	missense variant	-	NC_000019.10:g.33021620G>A	gnomAD
COSM4076745	p.Leu115Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33021618G>C	NCI-TCGA Cosmic
rs772622165	p.Gly116Asp	missense variant	-	NC_000019.10:g.33021614C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys118Asn	missense variant	-	NC_000019.10:g.33021607C>A	NCI-TCGA
rs557556955	p.Thr120Met	missense variant	-	NC_000019.10:g.33021602G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768831821	p.Asp122Gly	missense variant	-	NC_000019.10:g.33021596T>C	ExAC,gnomAD
rs370764158	p.Val123Phe	missense variant	-	NC_000019.10:g.33021594C>A	ESP,ExAC,TOPMed,gnomAD
rs370764158	p.Val123Ile	missense variant	-	NC_000019.10:g.33021594C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val123Gly	missense variant	-	NC_000019.10:g.33021593A>C	NCI-TCGA
rs199832226	p.Asp124Tyr	missense variant	-	NC_000019.10:g.33021591C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199832226	p.Asp124Asn	missense variant	-	NC_000019.10:g.33021591C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777541967	p.Phe125Leu	missense variant	-	NC_000019.10:g.33021586A>C	ExAC,gnomAD
rs150703957	p.Val127Ile	missense variant	-	NC_000019.10:g.33021582C>T	ESP,ExAC,TOPMed,gnomAD
rs752325119	p.Val128Ile	missense variant	-	NC_000019.10:g.33021579C>T	ExAC,gnomAD
COSM1325337	p.Leu129Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33021576G>A	NCI-TCGA Cosmic
rs1334281685	p.Ile133Val	missense variant	-	NC_000019.10:g.33012718T>C	TOPMed,gnomAD
COSM3989915	p.Ile133Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33012716G>C	NCI-TCGA Cosmic
rs775421815	p.Glu135Gly	missense variant	-	NC_000019.10:g.33012711T>C	ExAC,gnomAD
rs1309189094	p.Glu135Gln	missense variant	-	NC_000019.10:g.33012712C>G	gnomAD
rs1408902346	p.His136Tyr	missense variant	-	NC_000019.10:g.33012709G>A	gnomAD
rs373544803	p.Tyr142Cys	missense variant	-	NC_000019.10:g.33012690T>C	ESP,ExAC,TOPMed,gnomAD
COSM994662	p.Leu143Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33012688A>C	NCI-TCGA Cosmic
rs746891591	p.Leu143Phe	missense variant	-	NC_000019.10:g.33012686T>A	ExAC,gnomAD
rs1160449875	p.Glu145Lys	missense variant	-	NC_000019.10:g.33012682C>T	gnomAD
rs777739997	p.Asp146Gly	missense variant	-	NC_000019.10:g.33012678T>C	ExAC,TOPMed,gnomAD
rs1455168318	p.Asp146Tyr	missense variant	-	NC_000019.10:g.33012679C>A	gnomAD
rs1455168318	p.Asp146Asn	missense variant	-	NC_000019.10:g.33012679C>T	gnomAD
COSM6084612	p.Asp146His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33012679C>G	NCI-TCGA Cosmic
rs777739997	p.Asp146Val	missense variant	-	NC_000019.10:g.33012678T>A	ExAC,TOPMed,gnomAD
rs747970195	p.Asp146Glu	missense variant	-	NC_000019.10:g.33012677A>T	ExAC,TOPMed,gnomAD
rs1281706242	p.Glu147Lys	missense variant	-	NC_000019.10:g.33012676C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu147Ter	missense variant	-	NC_000019.10:g.33012676C>A	NCI-TCGA
rs778470982	p.Asp150Val	missense variant	-	NC_000019.10:g.33012666T>A	ExAC,gnomAD
rs1282773373	p.Asp150Tyr	missense variant	-	NC_000019.10:g.33012667C>A	TOPMed
rs541322468	p.Met152Val	missense variant	-	NC_000019.10:g.33012661T>C	1000Genomes,ExAC
rs753584585	p.Met152Thr	missense variant	-	NC_000019.10:g.33012660A>G	ExAC,gnomAD
rs1184801632	p.Asp153Asn	missense variant	-	NC_000019.10:g.33012658C>T	gnomAD
rs749982365	p.Ala157Ser	missense variant	-	NC_000019.10:g.33011803C>A	ExAC,TOPMed,gnomAD
rs749982365	p.Ala157Thr	missense variant	-	NC_000019.10:g.33011803C>T	ExAC,TOPMed,gnomAD
rs749982365	p.Ala157Pro	missense variant	-	NC_000019.10:g.33011803C>G	ExAC,TOPMed,gnomAD
rs781734711	p.Cys158Tyr	missense variant	-	NC_000019.10:g.33011799C>T	ExAC,TOPMed,gnomAD
rs372301058	p.Arg159Trp	missense variant	-	NC_000019.10:g.33011797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368366746	p.Arg159Leu	missense variant	-	NC_000019.10:g.33011796C>A	ESP,ExAC,TOPMed,gnomAD
rs372301058	p.Arg159Gly	missense variant	-	NC_000019.10:g.33011797G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368366746	p.Arg159Gln	missense variant	-	NC_000019.10:g.33011796C>T	ESP,ExAC,TOPMed,gnomAD
rs373249916	p.Thr160Lys	missense variant	-	NC_000019.10:g.33011793G>T	ESP,ExAC,TOPMed,gnomAD
rs373249916	p.Thr160Met	missense variant	-	NC_000019.10:g.33011793G>A	ESP,ExAC,TOPMed,gnomAD
rs759547845	p.Arg163Trp	missense variant	-	NC_000019.10:g.33011785G>A	ExAC,gnomAD
rs776705740	p.Arg163Gln	missense variant	-	NC_000019.10:g.33011784C>T	ExAC,TOPMed,gnomAD
rs774310628	p.Gly167Arg	missense variant	-	NC_000019.10:g.33011773C>T	ExAC,gnomAD
rs1490735361	p.Val168Met	missense variant	-	NC_000019.10:g.33011770C>T	TOPMed,gnomAD
rs1490735361	p.Val168Leu	missense variant	-	NC_000019.10:g.33011770C>A	TOPMed,gnomAD
rs1245414137	p.Met172Leu	missense variant	-	NC_000019.10:g.33011758T>A	gnomAD
NCI-TCGA novel	p.Phe175Leu	missense variant	-	NC_000019.10:g.33011747G>T	NCI-TCGA
rs1438952952	p.Ile176Thr	missense variant	-	NC_000019.10:g.33011745A>G	gnomAD
COSM994660	p.Gly179Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33011737C>T	NCI-TCGA Cosmic
rs779530907	p.Glu182Lys	missense variant	-	NC_000019.10:g.33011728C>T	ExAC,gnomAD
rs1284176267	p.Ser183Gly	missense variant	-	NC_000019.10:g.33011725T>C	TOPMed,gnomAD
rs745316274	p.Arg184Ter	stop gained	-	NC_000019.10:g.33011722G>A	ExAC,TOPMed,gnomAD
rs745316274	p.Arg184Gly	missense variant	-	NC_000019.10:g.33011722G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg184Gln	missense variant	-	NC_000019.10:g.33011721C>T	NCI-TCGA
rs1272899374	p.Phe186Ile	missense variant	-	NC_000019.10:g.33011716A>T	gnomAD
rs540549805	p.Phe186Tyr	missense variant	-	NC_000019.10:g.33011715A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540549805	p.Phe186Ser	missense variant	-	NC_000019.10:g.33011715A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs370371186	p.Arg190Pro	missense variant	-	NC_000019.10:g.33011703C>G	ESP,ExAC,TOPMed,gnomAD
rs752092520	p.Arg190Trp	missense variant	-	NC_000019.10:g.33011704G>A	ExAC,TOPMed,gnomAD
rs370371186	p.Arg190Gln	missense variant	-	NC_000019.10:g.33011703C>T	ESP,ExAC,TOPMed,gnomAD
rs753111541	p.Met192Arg	missense variant	-	NC_000019.10:g.33011697A>C	ExAC,TOPMed,gnomAD
rs765319907	p.Gly193Arg	missense variant	-	NC_000019.10:g.33011695C>T	ExAC,gnomAD
rs974975832	p.Leu194Arg	missense variant	-	NC_000019.10:g.33011691A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu194ProPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.33011691A>-	NCI-TCGA
rs1366358620	p.Leu195Pro	missense variant	-	NC_000019.10:g.33011688A>G	gnomAD
rs966303893	p.Phe196Leu	missense variant	-	NC_000019.10:g.33011686A>G	TOPMed
rs1482280105	p.Ser201Phe	missense variant	-	NC_000019.10:g.33008172G>A	gnomAD
rs1482359542	p.Thr203Ser	missense variant	-	NC_000019.10:g.33008166G>C	gnomAD
rs1216849666	p.Gly204Arg	missense variant	-	NC_000019.10:g.33008164C>T	gnomAD
rs1318955852	p.Gly204Val	missense variant	-	NC_000019.10:g.33008163C>A	gnomAD
rs766609551	p.Pro206Leu	missense variant	-	NC_000019.10:g.33008157G>A	ExAC,TOPMed,gnomAD
rs1315593229	p.Gln210Ter	stop gained	-	NC_000019.10:g.33008146G>A	gnomAD
rs1397269949	p.Asn211His	missense variant	-	NC_000019.10:g.33008143T>G	gnomAD
rs1376268624	p.Leu212Val	missense variant	-	NC_000019.10:g.33008140G>C	TOPMed,gnomAD
rs956612101	p.Leu213Val	missense variant	-	NC_000019.10:g.33008137G>C	TOPMed,gnomAD
rs762931353	p.Lys216Asn	missense variant	-	NC_000019.10:g.33008126C>G	ExAC,gnomAD
COSM994658	p.Ala217Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008124G>A	NCI-TCGA Cosmic
rs577697788	p.Ser218Cys	missense variant	-	NC_000019.10:g.33008122T>A	1000Genomes,ExAC,gnomAD
COSM4076744	p.Phe221Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008113A>G	NCI-TCGA Cosmic
COSM994657	p.Asn222Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008110T>A	NCI-TCGA Cosmic
rs765104577	p.Thr223Ser	missense variant	-	NC_000019.10:g.33008106G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly224Val	missense variant	-	NC_000019.10:g.33008103C>A	NCI-TCGA
rs776386474	p.Leu226Phe	missense variant	-	NC_000019.10:g.33008098G>A	ExAC,gnomAD
rs770712790	p.Thr228Ile	missense variant	-	NC_000019.10:g.33008091G>A	ExAC,gnomAD
rs143129937	p.Ile230Thr	missense variant	-	NC_000019.10:g.33008085A>G	ESP,ExAC,TOPMed,gnomAD
rs1487002081	p.Ile230Val	missense variant	-	NC_000019.10:g.33008086T>C	TOPMed,gnomAD
rs769894495	p.Thr232Ile	missense variant	-	NC_000019.10:g.33008079G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr232Pro	missense variant	-	NC_000019.10:g.33008080T>G	NCI-TCGA
rs557723953	p.Arg233Trp	missense variant	-	NC_000019.10:g.33008077G>A	1000Genomes,ExAC,gnomAD
rs557723953	p.Arg233Gly	missense variant	-	NC_000019.10:g.33008077G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp235Asn	missense variant	-	NC_000019.10:g.33008071C>T	NCI-TCGA
rs749683587	p.Arg236Trp	missense variant	-	NC_000019.10:g.33008068G>A	ExAC,TOPMed,gnomAD
rs780179613	p.Arg236Gln	missense variant	-	NC_000019.10:g.33008067C>T	ExAC,gnomAD
rs142413151	p.Thr238Met	missense variant	-	NC_000019.10:g.33008061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1366644308	p.Gly241Glu	missense variant	-	NC_000019.10:g.33008052C>T	gnomAD
rs1399795717	p.Gly241Trp	missense variant	-	NC_000019.10:g.33008053C>A	gnomAD
rs1230345649	p.Leu242Pro	missense variant	-	NC_000019.10:g.33008049A>G	TOPMed
rs570243378	p.Ile246Leu	missense variant	-	NC_000019.10:g.33008038T>G	1000Genomes,ExAC,gnomAD
rs138643075	p.Ile246Thr	missense variant	-	NC_000019.10:g.33008037A>G	ESP,ExAC,TOPMed,gnomAD
rs759341920	p.Arg251Lys	missense variant	-	NC_000019.10:g.33008022C>T	ExAC,gnomAD
COSM4921432	p.Ala252Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008020C>A	NCI-TCGA Cosmic
rs766335784	p.Ala253Thr	missense variant	-	NC_000019.10:g.33008017C>T	ExAC,gnomAD
rs770150141	p.Val255Ala	missense variant	-	NC_000019.10:g.33002997A>G	ExAC,TOPMed
rs1441259720	p.Val255Ile	missense variant	-	NC_000019.10:g.33002998C>T	gnomAD
rs918159134	p.Tyr258Asp	missense variant	-	NC_000019.10:g.33002989A>C	TOPMed
rs746251884	p.Thr262Lys	missense variant	-	NC_000019.10:g.33002976G>T	ExAC,gnomAD
rs1170970876	p.Phe263Val	missense variant	-	NC_000019.10:g.33002974A>C	TOPMed,gnomAD
rs771075571	p.Thr264Ile	missense variant	-	NC_000019.10:g.33002970G>A	ExAC,gnomAD
rs149589142	p.Thr266Ile	missense variant	-	NC_000019.10:g.33002964G>A	1000Genomes
rs777996820	p.Ser268Asn	missense variant	-	NC_000019.10:g.33002958C>T	ExAC,gnomAD
rs747294405	p.Ser268Arg	missense variant	-	NC_000019.10:g.33002959T>G	ExAC,TOPMed,gnomAD
rs749216712	p.Asp270Tyr	missense variant	-	NC_000019.10:g.33002953C>A	ExAC,TOPMed,gnomAD
rs749216712	p.Asp270Asn	missense variant	-	NC_000019.10:g.33002953C>T	ExAC,TOPMed,gnomAD
rs959667835	p.Met271Val	missense variant	-	NC_000019.10:g.33002950T>C	TOPMed,gnomAD
rs144886888	p.Met271Ile	missense variant	-	NC_000019.10:g.33002948C>T	ESP,ExAC,TOPMed,gnomAD
rs959667835	p.Met271Leu	missense variant	-	NC_000019.10:g.33002950T>A	TOPMed,gnomAD
rs796648858	p.Ser272Ile	missense variant	-	NC_000019.10:g.33002946C>A	TOPMed
rs1434146749	p.Ser272Cys	missense variant	-	NC_000019.10:g.33002947T>A	TOPMed
rs796648858	p.Ser272Thr	missense variant	-	NC_000019.10:g.33002946C>G	TOPMed
rs140759652	p.Pro273Leu	missense variant	-	NC_000019.10:g.33002943G>A	ESP,gnomAD
COSM994655	p.Ala274Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002940G>T	NCI-TCGA Cosmic
rs137892450	p.Met275Ile	missense variant	-	NC_000019.10:g.33002936C>T	ESP,ExAC,gnomAD
rs137892450	p.Met275Ile	missense variant	-	NC_000019.10:g.33002936C>A	ESP,ExAC,gnomAD
rs144820749	p.Val278Met	missense variant	-	NC_000019.10:g.33002929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756841869	p.Val278Ala	missense variant	-	NC_000019.10:g.33002928A>G	ExAC,gnomAD
rs1342283750	p.Val280Ile	missense variant	-	NC_000019.10:g.33002923C>T	TOPMed,gnomAD
rs775937855	p.Met282Lys	missense variant	-	NC_000019.10:g.33002916A>T	ExAC,TOPMed,gnomAD
rs765671127	p.Met283Ile	missense variant	-	NC_000019.10:g.33002912C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln286Ter	stop gained	-	NC_000019.10:g.33002905G>A	NCI-TCGA
rs376832768	p.Ala287Val	missense variant	-	NC_000019.10:g.33002901G>A	ESP,ExAC,TOPMed,gnomAD
rs1378415306	p.Glu289Gln	missense variant	-	NC_000019.10:g.33002896C>G	gnomAD
rs1277140382	p.Ser290Asn	missense variant	-	NC_000019.10:g.33002892C>T	TOPMed
rs747204786	p.Val291Met	missense variant	-	NC_000019.10:g.33002890C>T	ExAC,gnomAD
rs772227567	p.Glu293Lys	missense variant	-	NC_000019.10:g.33002884C>T	ExAC,TOPMed,gnomAD
rs772227567	p.Glu293Gln	missense variant	-	NC_000019.10:g.33002884C>G	ExAC,TOPMed,gnomAD
rs1247407297	p.Ser296Ile	missense variant	-	NC_000019.10:g.33002874C>A	TOPMed
rs151179227	p.Leu297Phe	missense variant	-	NC_000019.10:g.33002872G>A	ESP,ExAC,TOPMed,gnomAD
rs1219287190	p.Gly299Glu	missense variant	-	NC_000019.10:g.33002865C>T	gnomAD
rs745872476	p.Ile300Met	missense variant	-	NC_000019.10:g.33002861G>C	ExAC,gnomAD
rs757081366	p.Arg301Gln	missense variant	-	NC_000019.10:g.33002859C>T	ExAC,TOPMed,gnomAD
rs757081366	p.Arg301Leu	missense variant	-	NC_000019.10:g.33002859C>A	ExAC,TOPMed,gnomAD
rs780839982	p.Arg301Trp	missense variant	-	NC_000019.10:g.33002860G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn302MetPheSerTerUnk	frameshift	-	NC_000019.10:g.33002858C>-	NCI-TCGA
rs751187574	p.Glu303Lys	missense variant	-	NC_000019.10:g.33002854C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu303Asp	missense variant	-	NC_000019.10:g.33002852T>A	NCI-TCGA
COSM994654	p.Phe304Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002849G>C	NCI-TCGA Cosmic
rs763770765	p.Val308Gly	missense variant	-	NC_000019.10:g.33002838A>C	ExAC,TOPMed,gnomAD
rs1404259146	p.Val317Leu	missense variant	-	NC_000019.10:g.33002403C>A	gnomAD
rs1404259146	p.Val317Leu	missense variant	-	NC_000019.10:g.33002403C>G	gnomAD
rs752461489	p.Gly318Arg	missense variant	-	NC_000019.10:g.33002400C>T	ExAC,gnomAD
COSM4076743	p.Glu319Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002395C>G	NCI-TCGA Cosmic
rs778256595	p.Val320Phe	missense variant	-	NC_000019.10:g.33002394C>A	ExAC,gnomAD
rs1463778085	p.Val320Asp	missense variant	-	NC_000019.10:g.33002393A>T	gnomAD
rs754566343	p.Gln322Glu	missense variant	-	NC_000019.10:g.33002388G>C	ExAC,TOPMed,gnomAD
rs1307735751	p.Gln323Ter	stop gained	-	NC_000019.10:g.33002385G>A	TOPMed
rs200381045	p.His325Gln	missense variant	-	NC_000019.10:g.33002377G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs375651454	p.Ala326Thr	missense variant	-	NC_000019.10:g.33002376C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768051635	p.Ser329Asn	missense variant	-	NC_000019.10:g.33002366C>T	ExAC,TOPMed,gnomAD
rs762118544	p.Ala331Val	missense variant	-	NC_000019.10:g.33002360G>A	ExAC,gnomAD
rs1330561498	p.Ala331Thr	missense variant	-	NC_000019.10:g.33002361C>T	TOPMed
rs763112876	p.Pro332Leu	missense variant	-	NC_000019.10:g.33002357G>A	ExAC,gnomAD
rs763112876	p.Pro332Arg	missense variant	-	NC_000019.10:g.33002357G>C	ExAC,gnomAD
rs1349871934	p.Lys334Glu	missense variant	-	NC_000019.10:g.33002352T>C	TOPMed
rs1423701745	p.Asn336Asp	missense variant	-	NC_000019.10:g.33002346T>C	gnomAD
rs528401920	p.Asn336Thr	missense variant	-	NC_000019.10:g.33002345T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3532213	p.Pro338Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002339G>A	NCI-TCGA Cosmic
rs777543844	p.Trp341Arg	missense variant	-	NC_000019.10:g.33002331A>G	ExAC,gnomAD
rs747735018	p.Ala342Gly	missense variant	-	NC_000019.10:g.33002327G>C	ExAC,gnomAD
rs28407794	p.Ala342Pro	missense variant	-	NC_000019.10:g.33002328C>G	UniProt,dbSNP
VAR_061997	p.Ala342Pro	missense variant	-	NC_000019.10:g.33002328C>G	UniProt
rs28407794	p.Ala342Pro	missense variant	-	NC_000019.10:g.33002328C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145677315	p.Ala345Val	missense variant	-	NC_000019.10:g.33002318G>A	ESP,ExAC,TOPMed,gnomAD
rs1396944368	p.Ala345Thr	missense variant	-	NC_000019.10:g.33002319C>T	gnomAD
rs753391318	p.Cys346Arg	missense variant	-	NC_000019.10:g.33002316A>G	ExAC,gnomAD
rs139839345	p.Cys346Tyr	missense variant	-	NC_000019.10:g.33002315C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767959366	p.Val347Leu	missense variant	-	NC_000019.10:g.33002313C>G	ExAC,TOPMed,gnomAD
rs767959366	p.Val347Met	missense variant	-	NC_000019.10:g.33002313C>T	ExAC,TOPMed,gnomAD
rs1475207788	p.Lys348Asn	missense variant	-	NC_000019.10:g.33002308C>A	gnomAD
rs1396509245	p.Ala349Thr	missense variant	-	NC_000019.10:g.33002307C>T	TOPMed
rs1172330882	p.His350Gln	missense variant	-	NC_000019.10:g.33002302G>T	TOPMed,gnomAD
rs1423586415	p.His350Pro	missense variant	-	NC_000019.10:g.33002303T>G	gnomAD
rs199978160	p.His351Gln	missense variant	-	NC_000019.10:g.33002299G>C	ExAC,gnomAD
rs200623446	p.Ala353Gly	missense variant	-	NC_000019.10:g.33002294G>C	ExAC,TOPMed,gnomAD
rs200623446	p.Ala353Val	missense variant	-	NC_000019.10:g.33002294G>A	ExAC,TOPMed,gnomAD
rs201601538	p.Ala353Thr	missense variant	-	NC_000019.10:g.33002295C>T	ExAC,TOPMed,gnomAD
rs773184319	p.Leu355Pro	missense variant	-	NC_000019.10:g.33002288A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala356Val	missense variant	-	NC_000019.10:g.33002285G>A	NCI-TCGA
rs193179333	p.His357Leu	missense variant	-	NC_000019.10:g.33002282T>A	ExAC,gnomAD
rs748008554	p.Thr360Ile	missense variant	-	NC_000019.10:g.33002273G>A	ExAC
NCI-TCGA novel	p.Thr360Ser	missense variant	-	NC_000019.10:g.33002273G>C	NCI-TCGA
rs556739232	p.Ala361Val	missense variant	-	NC_000019.10:g.33002270G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1349478773	p.Ile362Ser	missense variant	-	NC_000019.10:g.33002267A>C	gnomAD
rs1354361757	p.Ile362Val	missense variant	-	NC_000019.10:g.33002268T>C	gnomAD
rs1443950653	p.Ile365Val	missense variant	-	NC_000019.10:g.33002259T>C	gnomAD
rs1227297967	p.Ile365Ser	missense variant	-	NC_000019.10:g.33002258A>C	TOPMed,gnomAD
rs1342574313	p.Asp366Asn	missense variant	-	NC_000019.10:g.33002256C>T	TOPMed
rs923072397	p.Gln368Glu	missense variant	-	NC_000019.10:g.33002250G>C	TOPMed
NCI-TCGA novel	p.Gln368Ter	stop gained	-	NC_000019.10:g.33002250G>A	NCI-TCGA
rs778173161	p.Pro371Arg	missense variant	-	NC_000019.10:g.32999699G>C	ExAC,gnomAD
rs1471699047	p.Gly372Val	missense variant	-	NC_000019.10:g.32999696C>A	TOPMed,gnomAD
rs1471699047	p.Gly372Ala	missense variant	-	NC_000019.10:g.32999696C>G	TOPMed,gnomAD
rs531300983	p.Thr373Lys	missense variant	-	NC_000019.10:g.32999693G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531300983	p.Thr373Met	missense variant	-	NC_000019.10:g.32999693G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752868507	p.Asp374Val	missense variant	-	NC_000019.10:g.32999690T>A	ExAC,TOPMed,gnomAD
rs765475659	p.Leu375Val	missense variant	-	NC_000019.10:g.32999688G>C	ExAC,TOPMed,gnomAD
rs562365127	p.His377Tyr	missense variant	-	NC_000019.10:g.32999682G>A	1000Genomes,ExAC,gnomAD
rs1221319147	p.His377Arg	missense variant	-	NC_000019.10:g.32999681T>C	TOPMed
rs78615454	p.Gln378Glu	missense variant	-	NC_000019.10:g.32999679G>C	ExAC,gnomAD
rs78615454	p.Gln378Ter	stop gained	-	NC_000019.10:g.32999679G>A	ExAC,gnomAD
rs766425590	p.Glu379Asp	missense variant	-	NC_000019.10:g.32999674C>A	ExAC,gnomAD
rs1341956153	p.Glu379Gln	missense variant	-	NC_000019.10:g.32999676C>G	gnomAD
COSM3532211	p.Glu379Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32999676C>T	NCI-TCGA Cosmic
rs1203223458	p.Lys380Arg	missense variant	-	NC_000019.10:g.32999672T>C	gnomAD
rs761804917	p.Cys381Phe	missense variant	-	NC_000019.10:g.32999669C>A	ExAC,gnomAD
rs761804917	p.Cys381Tyr	missense variant	-	NC_000019.10:g.32999669C>T	ExAC,gnomAD
rs774195600	p.Ser383Tyr	missense variant	-	NC_000019.10:g.32999663G>T	ExAC,gnomAD
rs74582927	p.Gln384Pro	missense variant	-	NC_000019.10:g.32999660T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs74582927	p.Gln384Arg	missense variant	-	NC_000019.10:g.32999660T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1295740122	p.Gln384Ter	stop gained	-	NC_000019.10:g.32999661G>A	gnomAD
rs147870656	p.Leu385Ile	missense variant	-	NC_000019.10:g.32999658G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1171433811	p.Tyr386Cys	missense variant	-	NC_000019.10:g.32999654T>C	gnomAD
rs376175559	p.Asp387Glu	missense variant	-	NC_000019.10:g.32999650G>T	ESP,ExAC,gnomAD
rs759323341	p.Asp387Asn	missense variant	-	NC_000019.10:g.32999652C>T	ExAC,TOPMed,gnomAD
rs1427636247	p.His388Asn	missense variant	-	NC_000019.10:g.32999649G>T	gnomAD
rs371462562	p.Met389Val	missense variant	-	NC_000019.10:g.32999646T>C	ESP,ExAC,gnomAD
rs903210487	p.Met389Lys	missense variant	-	NC_000019.10:g.32999645A>T	TOPMed,gnomAD
rs371462562	p.Met389Leu	missense variant	-	NC_000019.10:g.32999646T>A	ESP,ExAC,gnomAD
rs1272034443	p.Gly392Glu	missense variant	-	NC_000019.10:g.32999636C>T	gnomAD
rs1255689355	p.Pro395His	missense variant	-	NC_000019.10:g.32999627G>T	gnomAD
rs201197290	p.Pro395Thr	missense variant	-	NC_000019.10:g.32999628G>T	1000Genomes,ExAC,gnomAD
rs772443432	p.Leu396Trp	missense variant	-	NC_000019.10:g.32999624A>C	ExAC,gnomAD
rs1332096370	p.Ala397Asp	missense variant	-	NC_000019.10:g.32999621G>T	gnomAD
rs754122731	p.Asp402Glu	missense variant	-	NC_000019.10:g.32999605A>T	ExAC,gnomAD
rs755176874	p.Asp402Val	missense variant	-	NC_000019.10:g.32999606T>A	ExAC,gnomAD
rs201844789	p.Gln403Glu	missense variant	-	NC_000019.10:g.32999604G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199630139	p.Arg405Cys	missense variant	-	NC_000019.10:g.32999598G>A	ESP,ExAC,TOPMed,gnomAD
rs1167499954	p.Arg405His	missense variant	-	NC_000019.10:g.32999597C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg405Leu	missense variant	-	NC_000019.10:g.32999597C>A	NCI-TCGA
rs555014775	p.Arg406Ter	stop gained	-	NC_000019.10:g.32999595G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201438314	p.Arg406Gln	missense variant	-	NC_000019.10:g.32999594C>T	ExAC,gnomAD
rs1452558887	p.Leu408Met	missense variant	-	NC_000019.10:g.32999589G>T	gnomAD
rs564794525	p.Arg414His	missense variant	-	NC_000019.10:g.32996205C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201089375	p.Arg414Cys	missense variant	-	NC_000019.10:g.32996206G>A	ExAC,TOPMed,gnomAD
COSM994652	p.Arg415Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32996202C>A	NCI-TCGA Cosmic
rs748050734	p.Arg415Lys	missense variant	-	NC_000019.10:g.32996202C>T	ExAC,gnomAD
rs144652286	p.Met417Val	missense variant	-	NC_000019.10:g.32996197T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1000953898	p.Met417Lys	missense variant	-	NC_000019.10:g.32996196A>T	TOPMed
rs1474675667	p.His420Arg	missense variant	-	NC_000019.10:g.32996187T>C	gnomAD
rs766256907	p.Glu421Ter	stop gained	-	NC_000019.10:g.32996185C>A	ExAC,TOPMed,gnomAD
rs766256907	p.Glu421Lys	missense variant	-	NC_000019.10:g.32996185C>T	ExAC,TOPMed,gnomAD
rs1445796184	p.Ser423Leu	missense variant	-	NC_000019.10:g.32996178G>A	gnomAD
rs766987678	p.Val424Leu	missense variant	-	NC_000019.10:g.32996176C>G	ExAC,gnomAD
rs766987678	p.Val424Leu	missense variant	-	NC_000019.10:g.32996176C>A	ExAC,gnomAD
rs1358631193	p.Val424Ala	missense variant	-	NC_000019.10:g.32996175A>G	TOPMed,gnomAD
rs761330344	p.Arg425Trp	missense variant	-	NC_000019.10:g.32996173G>A	ExAC,TOPMed,gnomAD
rs774798877	p.Arg425Gln	missense variant	-	NC_000019.10:g.32996172C>T	ExAC,TOPMed,gnomAD
rs763318393	p.Glu426Asp	missense variant	-	NC_000019.10:g.32996168C>G	ExAC,gnomAD
rs1278629137	p.Glu426Gly	missense variant	-	NC_000019.10:g.32996169T>C	gnomAD
rs764588726	p.Glu426Lys	missense variant	-	NC_000019.10:g.32996170C>T	ExAC,gnomAD
rs139766778	p.Ala427Val	missense variant	-	NC_000019.10:g.32996166G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139766778	p.Ala427Gly	missense variant	-	NC_000019.10:g.32996166G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1405871614	p.Ser428Asn	missense variant	-	NC_000019.10:g.32996163C>T	gnomAD
rs747094381	p.Leu429Pro	missense variant	-	NC_000019.10:g.32996160A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu429Ile	missense variant	-	NC_000019.10:g.32996161G>T	NCI-TCGA
rs370605415	p.Cys430Phe	missense variant	-	NC_000019.10:g.32996157C>A	ESP,ExAC,TOPMed,gnomAD
rs1056748763	p.Leu433Pro	missense variant	-	NC_000019.10:g.32996148A>G	TOPMed
rs749317155	p.Arg434Gln	missense variant	-	NC_000019.10:g.32996145C>T	ExAC,gnomAD
rs141232995	p.Arg434Trp	missense variant	-	NC_000019.10:g.32996146G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1200277520	p.Ile436Thr	missense variant	-	NC_000019.10:g.32996139A>G	gnomAD
rs563135404	p.Ile436Val	missense variant	-	NC_000019.10:g.32996140T>C	1000Genomes,ExAC,gnomAD
rs755982809	p.Val438Glu	missense variant	-	NC_000019.10:g.32996133A>T	ExAC,gnomAD
rs897511244	p.Gln440Arg	missense variant	-	NC_000019.10:g.32996127T>C	TOPMed,gnomAD
rs1318907848	p.Gln440His	missense variant	-	NC_000019.10:g.32996126C>G	gnomAD
rs1216120694	p.Lys441Asn	missense variant	-	NC_000019.10:g.32996123C>G	gnomAD
rs767183861	p.Lys441Arg	missense variant	-	NC_000019.10:g.32996124T>C	ExAC,TOPMed,gnomAD
rs751082956	p.Cys444Tyr	missense variant	-	NC_000019.10:g.32996115C>T	ExAC,gnomAD
rs148666860	p.Ala446Thr	missense variant	-	NC_000019.10:g.32996110C>T	ESP,ExAC,TOPMed,gnomAD
rs577722327	p.Gln447Arg	missense variant	-	NC_000019.10:g.32996106T>C	1000Genomes,ExAC,gnomAD
rs759977429	p.Glu448Ter	stop gained	-	NC_000019.10:g.32996104C>A	ExAC,gnomAD
rs776930286	p.Arg449Ser	missense variant	-	NC_000019.10:g.32996101G>T	ExAC,TOPMed,gnomAD
rs771295262	p.Arg449His	missense variant	-	NC_000019.10:g.32996100C>T	ExAC,TOPMed,gnomAD
rs776930286	p.Arg449Cys	missense variant	-	NC_000019.10:g.32996101G>A	ExAC,TOPMed,gnomAD
rs761039358	p.Arg451Trp	missense variant	-	NC_000019.10:g.32996095G>A	ExAC,gnomAD
rs374206352	p.Arg451Gln	missense variant	-	NC_000019.10:g.32996094C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs535367908	p.Thr453Arg	missense variant	-	NC_000019.10:g.32996088G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs535367908	p.Thr453Met	missense variant	-	NC_000019.10:g.32996088G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr453IlePheSerTerUnk	frameshift	-	NC_000019.10:g.32996087_32996088CG>-	NCI-TCGA
rs75351369	p.Tyr454Asp	missense variant	-	NC_000019.10:g.32996086A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138153671	p.Ala455Thr	missense variant	-	NC_000019.10:g.32996083C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756889007	p.Ala455Val	missense variant	-	NC_000019.10:g.32996082G>A	ExAC,gnomAD
rs751277431	p.Gln456Glu	missense variant	-	NC_000019.10:g.32996080G>C	ExAC,gnomAD
rs751277431	p.Gln456Ter	stop gained	-	NC_000019.10:g.32996080G>A	ExAC,gnomAD
rs777127717	p.His457Arg	missense variant	-	NC_000019.10:g.32996076T>C	ExAC,TOPMed,gnomAD
rs777127717	p.His457Leu	missense variant	-	NC_000019.10:g.32996076T>A	ExAC,TOPMed,gnomAD
rs757949541	p.Gln458Glu	missense variant	-	NC_000019.10:g.32996074G>C	ExAC,gnomAD
rs1232947574	p.Glu459Lys	missense variant	-	NC_000019.10:g.32996071C>T	gnomAD
rs199887869	p.Glu460Asp	missense variant	-	NC_000019.10:g.32996066C>A	1000Genomes,ExAC,gnomAD
rs1299352899	p.Asp461Val	missense variant	-	NC_000019.10:g.32996064T>A	gnomAD
COSM4076741	p.Asp462Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32996061T>G	NCI-TCGA Cosmic
rs148084786	p.Asp468Asn	missense variant	-	NC_000019.10:g.32996044C>T	ESP,ExAC,TOPMed,gnomAD
rs148084786	p.Asp468Tyr	missense variant	-	NC_000019.10:g.32996044C>A	ESP,ExAC,TOPMed,gnomAD
rs148084786	p.Asp468His	missense variant	-	NC_000019.10:g.32996044C>G	ESP,ExAC,TOPMed,gnomAD
rs760951199	p.Ala469Thr	missense variant	-	NC_000019.10:g.32996041C>T	ExAC,TOPMed,gnomAD
rs148949148	p.Ser471Gly	missense variant	-	NC_000019.10:g.32996035T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772683149	p.Gln478Glu	missense variant	-	NC_000019.10:g.32994042G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val480Ala	missense variant	-	NC_000019.10:g.32994035A>G	NCI-TCGA
rs570680058	p.Asp481Val	missense variant	-	NC_000019.10:g.32994032T>A	1000Genomes
rs1454071376	p.Ile483Thr	missense variant	-	NC_000019.10:g.32994026A>G	gnomAD
rs771746367	p.Phe487Leu	missense variant	-	NC_000019.10:g.32994013G>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe487Leu	missense variant	-	NC_000019.10:g.32994013G>T	NCI-TCGA
rs1287574863	p.Lys489Gln	missense variant	-	NC_000019.10:g.32994009T>G	gnomAD
rs1472728782	p.Val492Asp	missense variant	-	NC_000019.10:g.32993999A>T	TOPMed
rs547444410	p.Thr493Met	missense variant	-	NC_000019.10:g.32993996G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1460092097	p.Phe495Val	missense variant	-	NC_000019.10:g.32993991A>C	gnomAD
rs1332085692	p.Leu502Ser	missense variant	-	NC_000019.10:g.32991962A>G	gnomAD
rs1393410312	p.Ser503Pro	missense variant	-	NC_000019.10:g.32991960A>G	gnomAD
rs201815431	p.Ser503Phe	missense variant	-	NC_000019.10:g.32991959G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1296274942	p.Val504Gly	missense variant	-	NC_000019.10:g.32991956A>C	gnomAD
rs777977646	p.Ser506Leu	missense variant	-	NC_000019.10:g.32991950G>A	ExAC,TOPMed,gnomAD
rs752762158	p.Ala507Val	missense variant	-	NC_000019.10:g.32991947G>A	ExAC,gnomAD
rs765370986	p.Asn508Lys	missense variant	-	NC_000019.10:g.32991943G>T	ExAC,TOPMed,gnomAD
rs1393998856	p.Lys509Asn	missense variant	-	NC_000019.10:g.32991940C>G	gnomAD
rs760633882	p.Arg510Trp	missense variant	-	NC_000019.10:g.32991939G>A	ExAC,gnomAD
rs750379907	p.Arg510Gln	missense variant	-	NC_000019.10:g.32991938C>T	ExAC,TOPMed,gnomAD
rs1247896704	p.Trp511Cys	missense variant	-	NC_000019.10:g.32991934C>A	gnomAD
rs767297253	p.Thr512Met	missense variant	-	NC_000019.10:g.32991932G>A	ExAC,TOPMed,gnomAD
rs774078225	p.Pro514Ser	missense variant	-	NC_000019.10:g.32991927G>A	ExAC,gnomAD
rs1347761451	p.Arg515Gln	missense variant	-	NC_000019.10:g.32991923C>T	gnomAD
rs768431881	p.Arg515Ter	stop gained	-	NC_000019.10:g.32991924G>A	ExAC,TOPMed,gnomAD
COSM3532210	p.Arg515Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32991924G>C	NCI-TCGA Cosmic
rs1347761451	p.Arg515Leu	missense variant	-	NC_000019.10:g.32991923C>A	gnomAD
rs1241227703	p.Arg518His	missense variant	-	NC_000019.10:g.32991914C>T	gnomAD
rs79314177	p.Arg518Gly	missense variant	-	NC_000019.10:g.32991915G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79314177	p.Arg518Cys	missense variant	-	NC_000019.10:g.32991915G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000454783	p.Arg518Cys	missense variant	-	NC_000019.10:g.32991915G>A	ClinVar
rs1334212098	p.Thr520Ala	missense variant	-	NC_000019.10:g.32991909T>C	gnomAD
rs775135364	p.Gly524Glu	missense variant	-	NC_000019.10:g.32991896C>T	ExAC,TOPMed,gnomAD
rs769469341	p.Asp525Asn	missense variant	-	NC_000019.10:g.32991894C>T	ExAC,TOPMed,gnomAD
rs769469341	p.Asp525His	missense variant	-	NC_000019.10:g.32991894C>G	ExAC,TOPMed,gnomAD
rs781570610	p.Leu526Phe	missense variant	-	NC_000019.10:g.32991889C>A	ExAC,gnomAD
rs796438522	p.Thr529Ser	missense variant	-	NC_000019.10:g.32991882T>A	gnomAD
rs962706952	p.Leu530Met	missense variant	-	NC_000019.10:g.32991879A>T	TOPMed
NCI-TCGA novel	p.Leu530Ter	stop gained	-	NC_000019.10:g.32991878A>T	NCI-TCGA
rs1158644120	p.Gly532Arg	missense variant	-	NC_000019.10:g.32991873C>G	gnomAD
rs1180723297	p.Ala534Val	missense variant	-	NC_000019.10:g.32991866G>A	gnomAD
rs753950362	p.Ala534Thr	missense variant	-	NC_000019.10:g.32991867C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro535Ser	missense variant	-	NC_000019.10:g.32991864G>A	NCI-TCGA
rs758618054	p.Val536Ile	missense variant	-	NC_000019.10:g.32991861C>T	ExAC,TOPMed,gnomAD
rs752960645	p.Gln537His	missense variant	-	NC_000019.10:g.32991856C>A	ExAC,gnomAD
rs750332302	p.Asp542Asn	missense variant	-	NC_000019.10:g.32991843C>T	ExAC,gnomAD
rs767358800	p.Pro543Leu	missense variant	-	NC_000019.10:g.32991839G>A	ExAC,gnomAD
rs370334049	p.Ser548Leu	missense variant	-	NC_000019.10:g.32991824G>A	TOPMed,gnomAD
rs1229584218	p.Val549Met	missense variant	-	NC_000019.10:g.32990669C>T	gnomAD
rs147095013	p.Ala550Thr	missense variant	-	NC_000019.10:g.32990666C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ala552Thr	missense variant	-	NC_000019.10:g.32990660C>T	NCI-TCGA
rs183236318	p.Arg553Trp	missense variant	-	NC_000019.10:g.32990657G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757134070	p.Arg553Gln	missense variant	-	NC_000019.10:g.32990656C>T	ExAC,TOPMed,gnomAD
rs751585975	p.Gly555Arg	missense variant	-	NC_000019.10:g.32990651C>G	ExAC,gnomAD
rs763957704	p.Tyr557Phe	missense variant	-	NC_000019.10:g.32990644T>A	ExAC,gnomAD
rs1420723980	p.Val559Ala	missense variant	-	NC_000019.10:g.32990638A>G	gnomAD
rs1169988198	p.Ile561Phe	missense variant	-	NC_000019.10:g.32990633T>A	gnomAD
rs752356242	p.Thr570Arg	missense variant	-	NC_000019.10:g.32990605G>C	ExAC,TOPMed,gnomAD
rs752356242	p.Thr570Lys	missense variant	-	NC_000019.10:g.32990605G>T	ExAC,TOPMed,gnomAD
rs752356242	p.Thr570Met	missense variant	-	NC_000019.10:g.32990605G>A	ExAC,TOPMed,gnomAD
rs1474727741	p.Thr570Ala	missense variant	-	NC_000019.10:g.32990606T>C	gnomAD
rs759291358	p.Leu571Gln	missense variant	-	NC_000019.10:g.32990602A>T	ExAC,gnomAD
rs111491211	p.Leu571Val	missense variant	-	NC_000019.10:g.32990603G>C	gnomAD
rs959998208	p.Ser572Asn	missense variant	-	NC_000019.10:g.32990599C>T	TOPMed
rs1395311474	p.Glu573Lys	missense variant	-	NC_000019.10:g.32990597C>T	TOPMed
rs765955340	p.Val574Leu	missense variant	-	NC_000019.10:g.32990594C>G	ExAC,gnomAD
rs1026269140	p.Met575Thr	missense variant	-	NC_000019.10:g.32990590A>G	TOPMed,gnomAD
rs557699614	p.Met575Val	missense variant	-	NC_000019.10:g.32990591T>C	1000Genomes,ExAC,gnomAD
rs773734878	p.Leu578Pro	missense variant	-	NC_000019.10:g.32990581A>G	ExAC,TOPMed,gnomAD
rs774570477	p.Ser580Thr	missense variant	-	NC_000019.10:g.32990575C>G	ExAC,gnomAD
rs748513747	p.Ser580Arg	missense variant	-	NC_000019.10:g.32990576T>G	ExAC
rs1307943124	p.Phe581Leu	missense variant	-	NC_000019.10:g.32990573A>G	TOPMed
rs141778903	p.Glu583Lys	missense variant	-	NC_000019.10:g.32990567C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746894075	p.Asp584Tyr	missense variant	-	NC_000019.10:g.32990564C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp584Gly	missense variant	-	NC_000019.10:g.32990563T>C	NCI-TCGA
rs1178055932	p.Glu585Val	missense variant	-	NC_000019.10:g.32990560T>A	TOPMed
rs369196164	p.Glu585Lys	missense variant	-	NC_000019.10:g.32990561C>T	ESP,ExAC,TOPMed,gnomAD
rs765148895	p.Ile586Phe	missense variant	-	NC_000019.10:g.32990558T>A	ExAC,gnomAD
rs753578599	p.Glu587Lys	missense variant	-	NC_000019.10:g.32990555C>T	ExAC,TOPMed,gnomAD
rs1375900139	p.Glu587Gly	missense variant	-	NC_000019.10:g.32990554T>C	TOPMed
rs765760890	p.Met588Ile	missense variant	-	NC_000019.10:g.32990550C>G	ExAC,TOPMed,gnomAD
rs1172968058	p.Lys589Glu	missense variant	-	NC_000019.10:g.32990549T>C	TOPMed
rs760214047	p.Val591Met	missense variant	-	NC_000019.10:g.32990543C>T	ExAC,gnomAD
rs1407794927	p.Ser592Arg	missense variant	-	NC_000019.10:g.32990538G>T	TOPMed
rs373973646	p.Leu593Pro	missense variant	-	NC_000019.10:g.32990536A>G	ESP,ExAC,TOPMed,gnomAD
COSM994646	p.Leu593Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32990537G>A	NCI-TCGA Cosmic
rs577353395	p.Ser598Leu	missense variant	-	NC_000019.10:g.32990521G>A	ExAC,TOPMed,gnomAD
rs762360968	p.Ser599Phe	missense variant	-	NC_000019.10:g.32990518G>A	ExAC,gnomAD
rs775507452	p.His601Arg	missense variant	-	NC_000019.10:g.32980255T>C	ExAC,TOPMed,gnomAD
rs763406408	p.His601Tyr	missense variant	-	NC_000019.10:g.32980256G>A	ExAC,gnomAD
rs776823238	p.Asn602Lys	missense variant	-	NC_000019.10:g.32980251A>C	ExAC,TOPMed,gnomAD
rs770128123	p.Asn602Tyr	missense variant	-	NC_000019.10:g.32980253T>A	ExAC,gnomAD
rs759904545	p.Asn602Ser	missense variant	-	NC_000019.10:g.32980252T>C	ExAC,gnomAD
rs771185066	p.Lys603Met	missense variant	-	NC_000019.10:g.32980249T>A	ExAC,gnomAD
rs1476097047	p.Ala605Thr	missense variant	-	NC_000019.10:g.32980244C>T	TOPMed,gnomAD
rs1255125353	p.Ser608Pro	missense variant	-	NC_000019.10:g.32980235A>G	gnomAD
rs147967421	p.Val609Leu	missense variant	-	NC_000019.10:g.32980232C>G	ESP,ExAC,TOPMed,gnomAD
rs147967421	p.Val609Met	missense variant	-	NC_000019.10:g.32980232C>T	ESP,ExAC,TOPMed,gnomAD
rs147967421	p.Val609Leu	missense variant	-	NC_000019.10:g.32980232C>A	ESP,ExAC,TOPMed,gnomAD
COSM1494317	p.Met611Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980226T>A	NCI-TCGA Cosmic
rs749125558	p.Gln612His	missense variant	-	NC_000019.10:g.32980221C>A	ExAC,gnomAD
rs1464164297	p.Thr614Met	missense variant	-	NC_000019.10:g.32980216G>A	gnomAD
rs780654993	p.Ser616Phe	missense variant	-	NC_000019.10:g.32980210G>A	ExAC,gnomAD
rs756780863	p.Met617Val	missense variant	-	NC_000019.10:g.32980208T>C	ExAC,gnomAD
rs756780863	p.Met617Leu	missense variant	-	NC_000019.10:g.32980208T>G	ExAC,gnomAD
rs764667518	p.Cys619Phe	missense variant	-	NC_000019.10:g.32980201C>A	ExAC,gnomAD
rs1472123173	p.Leu620Val	missense variant	-	NC_000019.10:g.32980199A>C	TOPMed
COSM4076739	p.Leu620Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980198A>G	NCI-TCGA Cosmic
rs753102976	p.Asp626Asn	missense variant	-	NC_000019.10:g.32980181C>T	ExAC,TOPMed,gnomAD
rs1434383672	p.Asp626Glu	missense variant	-	NC_000019.10:g.32980179G>C	gnomAD
rs1412416400	p.Thr631Ser	missense variant	-	NC_000019.10:g.32980165G>C	TOPMed
rs1335190590	p.Lys632Gln	missense variant	-	NC_000019.10:g.32980163T>G	TOPMed,gnomAD
rs759812870	p.Lys633Gln	missense variant	-	NC_000019.10:g.32980160T>G	ExAC,TOPMed,gnomAD
rs759812870	p.Lys633Glu	missense variant	-	NC_000019.10:g.32980160T>C	ExAC,TOPMed,gnomAD
COSM994644	p.Lys633Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980159T>G	NCI-TCGA Cosmic
COSM3822668	p.Lys633Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980158T>G	NCI-TCGA Cosmic
rs777017759	p.Ile634Asn	missense variant	-	NC_000019.10:g.32980156A>T	ExAC,gnomAD
COSM6150583	p.Ile634Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980155G>C	NCI-TCGA Cosmic
rs766529399	p.Ser635Cys	missense variant	-	NC_000019.10:g.32980153G>C	ExAC,gnomAD
rs760816662	p.Lys637Glu	missense variant	-	NC_000019.10:g.32980148T>C	ExAC,gnomAD
rs1421485271	p.Leu641Pro	missense variant	-	NC_000019.10:g.32980135A>G	gnomAD
rs1450753266	p.Trp643Ter	stop gained	-	NC_000019.10:g.32980128C>T	TOPMed
rs1184269613	p.Gly644Ser	missense variant	-	NC_000019.10:g.32980127C>T	gnomAD
COSM4076738	p.Gly644Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980126C>T	NCI-TCGA Cosmic
rs774101683	p.Lys647Thr	missense variant	-	NC_000019.10:g.32980117T>G	ExAC,gnomAD
rs774101683	p.Lys647Arg	missense variant	-	NC_000019.10:g.32980117T>C	ExAC,gnomAD
COSM994643	p.Arg649Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980111C>G	NCI-TCGA Cosmic
rs1215221299	p.Gln650Glu	missense variant	-	NC_000019.10:g.32980109G>C	gnomAD
rs1466842818	p.Gln650Arg	missense variant	-	NC_000019.10:g.32980108T>C	gnomAD
rs775231988	p.Ala653Val	missense variant	-	NC_000019.10:g.32980099G>A	ExAC,TOPMed,gnomAD
rs535587255	p.Ser654Cys	missense variant	-	NC_000019.10:g.32980097T>A	1000Genomes,ExAC,gnomAD
rs535587255	p.Ser654Arg	missense variant	-	NC_000019.10:g.32980097T>G	1000Genomes,ExAC,gnomAD
rs1228301889	p.Leu656Phe	missense variant	-	NC_000019.10:g.32980089C>G	gnomAD
rs780852824	p.Ser660Leu	missense variant	-	NC_000019.10:g.32980078G>A	ExAC,TOPMed,gnomAD
rs745473678	p.Ser660Pro	missense variant	-	NC_000019.10:g.32980079A>G	ExAC,gnomAD
rs145226250	p.Gly662Arg	missense variant	-	NC_000019.10:g.32980073C>G	ESP,ExAC,TOPMed,gnomAD
rs145226250	p.Gly662Arg	missense variant	-	NC_000019.10:g.32980073C>T	ESP,ExAC,TOPMed,gnomAD
rs893699529	p.Arg665Trp	missense variant	-	NC_000019.10:g.32980064G>A	TOPMed
rs753308360	p.Arg665Gln	missense variant	-	NC_000019.10:g.32980063C>T	ExAC,TOPMed,gnomAD
rs753308360	p.Arg665Leu	missense variant	-	NC_000019.10:g.32980063C>A	ExAC,TOPMed,gnomAD
rs1253718557	p.Pro666Ser	missense variant	-	NC_000019.10:g.32980061G>A	TOPMed
rs150014084	p.Gln667Glu	missense variant	-	NC_000019.10:g.32980058G>C	ESP,ExAC,TOPMed,gnomAD
rs150014084	p.Gln667Ter	stop gained	-	NC_000019.10:g.32980058G>A	ESP,ExAC,TOPMed,gnomAD
rs1166714813	p.Val668Phe	missense variant	-	NC_000019.10:g.32980055C>A	gnomAD
rs755427385	p.Lys669Ter	stop gained	-	NC_000019.10:g.32980052T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys670Thr	missense variant	-	NC_000019.10:g.32980048T>G	NCI-TCGA
rs766725366	p.Lys671Gln	missense variant	-	NC_000019.10:g.32980046T>G	ExAC,gnomAD
rs760868717	p.Pro673Ser	missense variant	-	NC_000019.10:g.32980040G>A	ExAC,gnomAD
rs1178155680	p.Pro673Leu	missense variant	-	NC_000019.10:g.32980039G>A	gnomAD
rs1249941976	p.Ser674Phe	missense variant	-	NC_000019.10:g.32980036G>A	gnomAD
rs1481859434	p.Ser674Pro	missense variant	-	NC_000019.10:g.32980037A>G	gnomAD
rs1370422698	p.Pro675Leu	missense variant	-	NC_000019.10:g.32980033G>A	TOPMed
rs762922941	p.Leu678Arg	missense variant	-	NC_000019.10:g.32980024A>C	ExAC,gnomAD
rs147541207	p.Asn680Ser	missense variant	-	NC_000019.10:g.32980018T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1308048021	p.Ser681Leu	missense variant	-	NC_000019.10:g.32980015G>A	gnomAD
rs1375312566	p.Asp682Glu	missense variant	-	NC_000019.10:g.32980011G>T	gnomAD
rs745665233	p.Ser683Gly	missense variant	-	NC_000019.10:g.32980010T>C	ExAC,gnomAD
rs142599475	p.Trp685Leu	missense variant	-	NC_000019.10:g.32980003C>A	ESP,TOPMed
rs1436262405	p.Trp685Cys	missense variant	-	NC_000019.10:g.32980002C>A	TOPMed
rs776208310	p.Tyr686His	missense variant	-	NC_000019.10:g.32980001A>G	ExAC,gnomAD
rs1174984534	p.Tyr686Ter	stop gained	-	NC_000019.10:g.32979999G>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0009402	Colorectal Carcinoma	disease	BEFREE;CTD_human
C0009404	Colorectal Neoplasms	group	CTD_human
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0027439	Nasopharyngeal Neoplasms	group	GWASDB
C0555198	Malignant Glioma	disease	BEFREE
C1319315	Adenocarcinoma of large intestine	disease	GWASDB
C1527249	Colorectal Cancer	disease	BEFREE;CTD_human;GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007165	signal transduction	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS
GO:0048471	perinuclear region of cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-194315	Signaling by Rho GTPases	TAS
R-HSA-194315	Signaling by Rho GTPases	IEA
R-HSA-195258	RHO GTPase Effectors	TAS
R-HSA-195258	RHO GTPase Effectors	IEA
R-HSA-5666185	RHO GTPases Activate Rhotekin and Rhophilins	TAS
R-HSA-5666185	RHO GTPases Activate Rhotekin and Rhophilins	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of RHPN2 mRNA	24810058
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of RHPN2 mRNA	28329830
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of RHPN2 mRNA	19933214
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of RHPN2 mRNA	23829299
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of RHPN2 mRNA	19114083
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl affects the expression of RHPN2 mRNA	23829299
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of RHPN2 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 increased expression of RHPN2 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 RHPN2 mRNA	19150397; 20382639;
C496492	abrine	abrine results in decreased expression of RHPN2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of RHPN2 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of RHPN2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of RHPN2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of RHPN2 mRNA	19770486
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of RHPN2 mRNA	24449571
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of RHPN2 mRNA	19770486; 21715664;
C006780	bisphenol A	bisphenol A affects the expression of RHPN2 mRNA	25181051
D002117	Calcitriol	Calcitriol results in increased expression of RHPN2 mRNA	16002434; 26485663;
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of RHPN2 mRNA	27339419
D002509	Cephaloridine	Cephaloridine results in increased expression of RHPN2 mRNA	18500788
D002945	Cisplatin	Cisplatin results in increased phosphorylation of RHPN2 protein	22006019
D016572	Cyclosporine	Cyclosporine results in decreased expression of RHPN2 mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in increased expression of RHPN2 mRNA	25562108
D003561	Cytarabine	Cytarabine results in decreased expression of RHPN2 mRNA	21198554
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in increased expression of RHPN2 mRNA	28962523
D004221	Disulfiram	Disulfiram results in decreased expression of RHPN2 mRNA	20530235
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 increased expression of RHPN2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of RHPN2 mRNA	29803840
D004726	Endosulfan	Endosulfan results in increased expression of RHPN2 mRNA	29391264
C118739	entinostat	entinostat results in increased expression of RHPN2 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 increased expression of RHPN2 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of RHPN2 mRNA	30165855
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of RHPN2 mRNA	23129252
D017313	Fenretinide	Fenretinide results in decreased expression of RHPN2 mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of RHPN2 mRNA	28973697
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of RHPN2 mRNA	28329830
C069837	fullerene C60	fullerene C60 results in decreased expression of RHPN2 mRNA	19167457
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of RHPN2 mRNA	26846883
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of RHPN2 mRNA	25613284
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of RHPN2 mRNA	24796395
C410337	K 7174	K 7174 results in increased expression of RHPN2 mRNA	24086573
D007854	Lead	Lead affects the expression of RHPN2 mRNA	28903495
D000077339	Leflunomide	Leflunomide results in increased expression of RHPN2 mRNA	28988120
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in decreased expression of RHPN2 mRNA	24972896
D008694	Methamphetamine	Methamphetamine results in decreased expression of RHPN2 mRNA	29802913
D008727	Methotrexate	Methotrexate affects the expression of RHPN2 mRNA	18502557
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of RHPN2 mRNA	23179753
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of RHPN2 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of RHPN2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of RHPN2 mRNA	25554681; 25620056;
D009532	Nickel	Nickel results in decreased expression of RHPN2 mRNA	24768652; 25583101;
C029938	nickel sulfate	nickel sulfate results in decreased expression of RHPN2 mRNA	16780908
D009534	Niclosamide	Niclosamide results in increased expression of RHPN2 mRNA	31398420
C410127	PCB 180	PCB 180 results in increased expression of RHPN2 mRNA	23829299
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of RHPN2 mRNA	18593933
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of RHPN2 mRNA	26705709
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of RHPN2 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital affects the expression of RHPN2 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in increased expression of RHPN2 mRNA	19482888
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of RHPN2 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of RHPN2 mRNA	18301758
D011374	Progesterone	Progesterone results in decreased expression of RHPN2 mRNA	23018184
D011374	Progesterone	NCOA2 protein affects the reaction [Progesterone results in decreased expression of RHPN2 mRNA]	17556502
D011374	Progesterone	Progesterone results in decreased expression of RHPN2 mRNA	17556502
C045950	propiconazole	propiconazole results in decreased expression of RHPN2 mRNA	21278054
C017947	sodium arsenite	sodium arsenite results in decreased expression of RHPN2 mRNA	25879800
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of RHPN2 mRNA	31299295
D013629	Tamoxifen	Tamoxifen affects the expression of RHPN2 mRNA	20937368
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of RHPN2 mRNA	14729362
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of RHPN2 mRNA	19933214
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of RHPN2 mRNA	25975270
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RHPN2 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of RHPN2 mRNA	21215274
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of RHPN2 mRNA	25613284
D013893	Thiram	Thiram results in decreased expression of RHPN2 mRNA	20530235
C009495	titanium dioxide	titanium dioxide results in decreased expression of RHPN2 mRNA	23557971
D014260	Triclosan	Triclosan results in decreased expression of RHPN2 mRNA	29596926
D014260	Triclosan	Triclosan results in increased expression of RHPN2 mRNA	30510588
D014520	Urethane	Urethane results in increased expression of RHPN2 mRNA	28818685
C406224	valdecoxib	valdecoxib results in increased expression of RHPN2 mRNA	24136188
D014635	Valproic Acid	Valproic Acid affects the expression of RHPN2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of RHPN2 mRNA	23179753; 25192806; 27188386;
D014635	Valproic Acid	Valproic Acid results in increased methylation of RHPN2 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of RHPN2 mRNA	17292431; 17963808;
C025643	vinclozolin	vinclozolin results in decreased expression of RHPN2 mRNA	23034163
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of RHPN2 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR004328	BRO1_dom
IPR038499	BRO1_sf
IPR011072	HR1_rho-bd
IPR036274	HR1_rpt_sf
IPR001478	PDZ
IPR036034	PDZ_sf

PROSITE

PROSITE ID	PROSITE Term
PS51180	BRO1
PS51860	REM_1

Pfam

Pfam ID	Pfam Term
PF03097	BRO1
PF02185	HR1

Gene: RHPN2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

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