CleftGeneDB-Search

Gene: SMO

Basic information

Tag	Content
Uniprot ID	Q99835; A4D1K5;
Entrez ID	6608
Genbank protein ID	AAD17202.1; AAB41788.1; AAF31757.1; EAL24102.1; AAH09989.1; EAW83715.1; AAC24863.1;
Genbank nucleotide ID	NM_005631.4
Ensembl protein ID	ENSP00000249373
Ensembl nucleotide ID	ENSG00000128602
Gene name	Smoothened homolog
Gene symbol	SMO
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia (PubMed:19592253). Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity).
Sequence	MAAARPARGP ELPLLGLLLL LLLGDPGRGA ASSGNATGPG PRSAGGSARR SAAVTGPPPP 60 LSHCGRAAPC EPLRYNVCLG SVLPYGATST LLAGDSDSQE EAHGKLVLWS GLRNAPRCWA 120 VIQPLLCAVY MPKCENDRVE LPSRTLCQAT RGPCAIVERE RGWPDFLRCT PDRFPEGCTN 180 EVQNIKFNSS GQCEVPLVRT DNPKSWYEDV EGCGIQCQNP LFTEAEHQDM HSYIAAFGAV 240 TGLCTLFTLA TFVADWRNSN RYPAVILFYV NACFFVGSIG WLAQFMDGAR REIVCRADGT 300 MRLGEPTSNE TLSCVIIFVI VYYALMAGVV WFVVLTYAWH TSFKALGTTY QPLSGKTSYF 360 HLLTWSLPFV LTVAILAVAQ VDGDSVSGIC FVGYKNYRYR AGFVLAPIGL VLIVGGYFLI 420 RGVMTLFSIK SNHPGLLSEK AASKINETML RLGIFGFLAF GFVLITFSCH FYDFFNQAEW 480 ERSFRDYVLC QANVTIGLPT KQPIPDCEIK NRPSLLVEKI NLFAMFGTGI AMSTWVWTKA 540 TLLIWRRTWC RLTGQSDDEP KRIKKSKMIA KAFSKRHELL QNPGQELSFS MHTVSHDGPV 600 AGLAFDLNEP SADVSSAWAQ HVTKMVARRG AILPQDISVT PVATPVPPEE QANLWLVEAE 660 ISPELQKRLG RKKKRRKRKK EVCPLAPPPE LHPPAPAPST IPRLPQLPRQ KCLVAAGAWG 720 AGDSCRQGAW TLVSNPFCPE PSPPQDPFLP SAPAPVAWAH GRRQGLGPIH SRTNLMDTEL 780 MDADSDF 787

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
4JKV
4N4W
4O9R
4QIM
4QIN
5L7D
5L7I
5V56
5V57
6OT0
4JKV
4QIM
5L7D
5V56

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	SMO	539308	E1BE57			Bos taurus	Prediction	More>>
1:1 ortholog	SMO	102171572	A0A452FRY0			Capra hircus	Prediction	More>>
1:1 ortholog	SMO	6608	Q99835			Homo sapiens	Prediction	More>>
1:1 ortholog	Smo	319757	P56726	CPO	E13.0, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	SMO	100515110	F1SMQ3			Sus scrofa	Prediction	More>>
1:1 ortholog	Smo		G3V736			Rattus norvegicus	Prediction	More>>
1:1 ortholog	smo	30225	Q5RH73			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs562868539	p.Ala3Thr	missense variant	-	NC_000007.14:g.129189158G>A	1000Genomes
rs1406355067	p.Arg5Pro	missense variant	-	NC_000007.14:g.129189165G>C	TOPMed
rs1317452947	p.Ala7Val	missense variant	-	NC_000007.14:g.129189171C>T	TOPMed
rs981209235	p.Arg8Gln	missense variant	-	NC_000007.14:g.129189174G>A	TOPMed
rs1390945946	p.Glu11Asp	missense variant	-	NC_000007.14:g.129189184G>T	gnomAD
rs1410118911	p.Glu11Lys	missense variant	-	NC_000007.14:g.129189182G>A	TOPMed
rs1159103336	p.Pro13Arg	missense variant	-	NC_000007.14:g.129189189C>G	TOPMed
rs916719717	p.Leu14Ile	missense variant	-	NC_000007.14:g.129189191C>A	TOPMed
rs916719717	p.Leu14Phe	missense variant	-	NC_000007.14:g.129189191C>T	TOPMed
rs551830801	p.Leu19Val	missense variant	-	NC_000007.14:g.129189206C>G	1000Genomes
rs1486912211	p.Gly24Trp	missense variant	-	NC_000007.14:g.129189221G>T	gnomAD
rs989530778	p.Gly24Ala	missense variant	-	NC_000007.14:g.129189222G>C	TOPMed
rs41304185	p.Asp25Gly	missense variant	-	NC_000007.14:g.129189225A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs945565546	p.Gly27Ser	missense variant	-	NC_000007.14:g.129189230G>A	TOPMed,gnomAD
rs1041213948	p.Arg28Trp	missense variant	-	NC_000007.14:g.129189233C>T	TOPMed,gnomAD
rs1232615391	p.Ala30Thr	missense variant	-	NC_000007.14:g.129189239G>A	TOPMed,gnomAD
rs1447902822	p.Ala31Ser	missense variant	-	NC_000007.14:g.129189242G>T	gnomAD
rs1270655700	p.Ser32Pro	missense variant	-	NC_000007.14:g.129189245T>C	gnomAD
rs1318658029	p.Ser32Leu	missense variant	-	NC_000007.14:g.129189246C>T	TOPMed
rs587778687	p.Ser33Arg	missense variant	-	NC_000007.14:g.129189250C>A	TOPMed,gnomAD
rs587778687	p.Ser33Arg	missense variant	-	NC_000007.14:g.129189250C>G	TOPMed,gnomAD
RCV000122072	p.Ser33Arg	missense variant	-	NC_000007.14:g.129189250C>G	ClinVar
rs1195189361	p.Gly38Arg	missense variant	-	NC_000007.14:g.129189263G>A	gnomAD
rs1413825142	p.Pro39Leu	missense variant	-	NC_000007.14:g.129189267C>T	gnomAD
rs889590959	p.Pro41Leu	missense variant	-	NC_000007.14:g.129189273C>T	TOPMed,gnomAD
rs1173919410	p.Arg42Gln	missense variant	-	NC_000007.14:g.129189276G>A	TOPMed,gnomAD
rs1346929661	p.Ser43Ile	missense variant	-	NC_000007.14:g.129189279G>T	gnomAD
rs1457269002	p.Ser43Arg	missense variant	-	NC_000007.14:g.129189280C>G	gnomAD
rs1185022695	p.Ser43Gly	missense variant	-	NC_000007.14:g.129189278A>G	TOPMed
rs1005724350	p.Gly45Cys	missense variant	-	NC_000007.14:g.129189284G>T	TOPMed,gnomAD
rs1005724350	p.Gly45Ser	missense variant	-	NC_000007.14:g.129189284G>A	TOPMed,gnomAD
rs1016791682	p.Ala48Gly	missense variant	-	NC_000007.14:g.129189294C>G	TOPMed
rs896909083	p.Ala48Thr	missense variant	-	NC_000007.14:g.129189293G>A	TOPMed
rs1224120274	p.Arg50Lys	missense variant	-	NC_000007.14:g.129189300G>A	TOPMed
rs1442736557	p.Ala52Ser	missense variant	-	NC_000007.14:g.129189305G>T	TOPMed,gnomAD
rs897183640	p.Ala53Val	missense variant	-	NC_000007.14:g.129189309C>T	gnomAD
rs897183640	p.Ala53Glu	missense variant	-	NC_000007.14:g.129189309C>A	gnomAD
rs541359801	p.Val54Met	missense variant	-	NC_000007.14:g.129189311G>A	ExAC,TOPMed,gnomAD
rs1363551380	p.Thr55Ile	missense variant	-	NC_000007.14:g.129189315C>T	TOPMed
rs1270619742	p.Gly56Ser	missense variant	-	NC_000007.14:g.129189317G>A	TOPMed
rs1404093690	p.Pro57Ala	missense variant	-	NC_000007.14:g.129189320C>G	TOPMed
rs1319274889	p.Pro58Thr	missense variant	-	NC_000007.14:g.129189323C>A	TOPMed,gnomAD
rs1319274889	p.Pro58Ser	missense variant	-	NC_000007.14:g.129189323C>T	TOPMed,gnomAD
rs1209374394	p.Pro59Gln	missense variant	-	NC_000007.14:g.129189327C>A	TOPMed,gnomAD
rs549592958	p.Pro60Leu	missense variant	-	NC_000007.14:g.129189330C>T	1000Genomes,ExAC,gnomAD
rs1354026626	p.Leu61Val	missense variant	-	NC_000007.14:g.129189332C>G	TOPMed
rs1415052819	p.Leu61Gln	missense variant	-	NC_000007.14:g.129189333T>A	gnomAD
rs1463706486	p.His63Arg	missense variant	-	NC_000007.14:g.129189339A>G	gnomAD
rs762329164	p.Arg66Gln	missense variant	-	NC_000007.14:g.129189348G>A	ExAC,gnomAD
rs1215848715	p.Arg66Trp	missense variant	-	NC_000007.14:g.129189347C>T	gnomAD
rs767938975	p.Ala68Gly	missense variant	-	NC_000007.14:g.129189354C>G	ExAC,TOPMed,gnomAD
rs1189276452	p.Pro69Leu	missense variant	-	NC_000007.14:g.129189357C>T	gnomAD
rs1414227463	p.Pro69Thr	missense variant	-	NC_000007.14:g.129189356C>A	gnomAD
rs1410003197	p.Pro72Leu	missense variant	-	NC_000007.14:g.129189366C>T	gnomAD
rs1317785653	p.Leu73Pro	missense variant	-	NC_000007.14:g.129189369T>C	TOPMed,gnomAD
rs1409206017	p.Val77Leu	missense variant	-	NC_000007.14:g.129189380G>T	gnomAD
rs1450533054	p.Leu79Met	missense variant	-	NC_000007.14:g.129189386C>A	TOPMed,gnomAD
rs1462673663	p.Gly80Asp	missense variant	-	NC_000007.14:g.129189390G>A	gnomAD
rs980121505	p.Val82Met	missense variant	-	NC_000007.14:g.129189395G>A	TOPMed,gnomAD
rs980121505	p.Val82Leu	missense variant	-	NC_000007.14:g.129189395G>C	TOPMed,gnomAD
rs1308948991	p.Tyr85Cys	missense variant	-	NC_000007.14:g.129189405A>G	TOPMed
rs1352797539	p.Gly86Glu	missense variant	-	NC_000007.14:g.129189408G>A	gnomAD
rs1287790572	p.Thr88Ser	missense variant	-	NC_000007.14:g.129189413A>T	gnomAD
rs1327220746	p.Thr88Ile	missense variant	-	NC_000007.14:g.129189414C>T	gnomAD
rs751995075	p.Ser89Cys	missense variant	-	NC_000007.14:g.129189417C>G	ExAC,TOPMed,gnomAD
rs1290804201	p.Leu92Arg	missense variant	-	NC_000007.14:g.129189426T>G	gnomAD
rs924171569	p.Gly94Arg	missense variant	-	NC_000007.14:g.129189431G>A	TOPMed,gnomAD
rs1234462519	p.Asp97Tyr	missense variant	-	NC_000007.14:g.129189440G>T	gnomAD
rs757650883	p.Glu100Asp	missense variant	-	NC_000007.14:g.129189451G>C	TOPMed,gnomAD
rs1475878530	p.Ala102Glu	missense variant	-	NC_000007.14:g.129189456C>A	gnomAD
rs764675802	p.His103Gln	missense variant	-	NC_000007.14:g.129189460C>G	ExAC,gnomAD
rs752301811	p.Lys105Arg	missense variant	-	NC_000007.14:g.129189465A>G	ExAC,TOPMed,gnomAD
rs752301811	p.Lys105Met	missense variant	-	NC_000007.14:g.129189465A>T	ExAC,TOPMed,gnomAD
rs757816267	p.Val107Leu	missense variant	-	NC_000007.14:g.129189470G>C	ExAC
rs945428238	p.Ser110Leu	missense variant	-	NC_000007.14:g.129189480C>T	TOPMed
rs1186366060	p.Leu112Pro	missense variant	-	NC_000007.14:g.129203387T>C	gnomAD
rs578002520	p.Arg113Gln	missense variant	-	NC_000007.14:g.129203390G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768850042	p.Arg113Trp	missense variant	-	NC_000007.14:g.129203389C>T	ExAC,TOPMed,gnomAD
rs1448507457	p.Ala115Val	missense variant	-	NC_000007.14:g.129203396C>T	gnomAD
rs1188326206	p.Pro116Ser	missense variant	-	NC_000007.14:g.129203398C>T	gnomAD
rs912880810	p.Arg117Cys	missense variant	-	NC_000007.14:g.129203401C>T	TOPMed,gnomAD
rs912880810	p.Arg117Gly	missense variant	-	NC_000007.14:g.129203401C>G	TOPMed,gnomAD
rs1173715127	p.Arg117His	missense variant	-	NC_000007.14:g.129203402G>A	gnomAD
rs1402160391	p.Trp119Ter	stop gained	-	NC_000007.14:g.129203409G>A	gnomAD
rs1412787004	p.Ala120Thr	missense variant	-	NC_000007.14:g.129203410G>A	gnomAD
rs1389568034	p.Pro124Leu	missense variant	-	NC_000007.14:g.129203423C>T	gnomAD
rs915272388	p.Pro124Thr	missense variant	-	NC_000007.14:g.129203422C>A	TOPMed,gnomAD
rs768028920	p.Leu125Arg	missense variant	-	NC_000007.14:g.129203426T>G	ExAC,gnomAD
rs1233842475	p.Cys127Tyr	missense variant	-	NC_000007.14:g.129203432G>A	gnomAD
rs1274135142	p.Ala128Thr	missense variant	-	NC_000007.14:g.129203434G>A	gnomAD
rs41303402	p.Val129Leu	missense variant	-	NC_000007.14:g.129203437G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41303402	p.Val129Ile	missense variant	-	NC_000007.14:g.129203437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1464151578	p.Met131Val	missense variant	-	NC_000007.14:g.129203443A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Lys133Asn	missense variant	-	NC_000007.14:g.129203451G>T	NCI-TCGA
rs1206491583	p.Cys134Phe	missense variant	-	NC_000007.14:g.129203453G>T	gnomAD
rs1453648091	p.Asn136Ser	missense variant	-	NC_000007.14:g.129203459A>G	gnomAD
rs1200055785	p.Asp137Gly	missense variant	-	NC_000007.14:g.129203462A>G	gnomAD
rs1377500860	p.Arg138Trp	missense variant	-	NC_000007.14:g.129203464C>T	TOPMed,gnomAD
rs752289293	p.Arg138Gln	missense variant	-	NC_000007.14:g.129203465G>A	ExAC,TOPMed,gnomAD
rs763536048	p.Ser143Asn	missense variant	-	NC_000007.14:g.129203480G>A	ExAC,gnomAD
rs116193648	p.Arg144His	missense variant	-	NC_000007.14:g.129203483G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116193648	p.Arg144Pro	missense variant	-	NC_000007.14:g.129203483G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1387085760	p.Leu146Phe	missense variant	-	NC_000007.14:g.129203488C>T	gnomAD
rs1288405827	p.Arg151Gln	missense variant	-	NC_000007.14:g.129203504G>A	TOPMed,gnomAD
rs1230215072	p.Arg151Ter	stop gained	-	NC_000007.14:g.129203503C>T	gnomAD
rs745721179	p.Gly152Arg	missense variant	-	NC_000007.14:g.129203506G>C	ExAC,gnomAD
rs201412858	p.Pro153Ser	missense variant	-	NC_000007.14:g.129203509C>T	1000Genomes,ExAC,gnomAD
rs1488612664	p.Ala155Thr	missense variant	-	NC_000007.14:g.129203515G>A	gnomAD
NCI-TCGA novel	p.Ala155Val	missense variant	-	NC_000007.14:g.129203516C>T	NCI-TCGA
rs749414966	p.Ile156Val	missense variant	-	NC_000007.14:g.129203518A>G	ExAC,gnomAD
rs774536425	p.Val157Met	missense variant	-	NC_000007.14:g.129203521G>A	ExAC,gnomAD
rs748690872	p.Glu158Ter	stop gained	-	NC_000007.14:g.129203524G>T	ExAC,gnomAD
rs748690872	p.Glu158Lys	missense variant	-	NC_000007.14:g.129203524G>A	ExAC,gnomAD
rs1472282051	p.Glu160Gly	missense variant	-	NC_000007.14:g.129203531A>G	gnomAD
rs772755154	p.Arg161Trp	missense variant	-	NC_000007.14:g.129203533C>T	ExAC,TOPMed,gnomAD
rs773562190	p.Arg161Gln	missense variant	-	NC_000007.14:g.129203534G>A	ExAC,gnomAD
rs761169486	p.Pro164Ser	missense variant	-	NC_000007.14:g.129203542C>T	ExAC,gnomAD
rs898457097	p.Asp165His	missense variant	-	NC_000007.14:g.129203545G>C	TOPMed
rs1310882621	p.Phe166Ile	missense variant	-	NC_000007.14:g.129203548T>A	gnomAD
rs1352254366	p.Phe166Tyr	missense variant	-	NC_000007.14:g.129203549T>A	gnomAD
rs1471540923	p.Phe166Leu	missense variant	-	NC_000007.14:g.129203550C>G	TOPMed
COSM3878017	p.Phe166Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129203548T>C	NCI-TCGA Cosmic
rs146797066	p.Arg168Cys	missense variant	-	NC_000007.14:g.129203554C>T	ESP,ExAC,TOPMed,gnomAD
rs61746143	p.Arg168His	missense variant	-	NC_000007.14:g.129203555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000122080	p.Arg168His	missense variant	-	NC_000007.14:g.129203555G>A	ClinVar
COSM3878018	p.Cys169Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129203557T>G	NCI-TCGA Cosmic
rs763625453	p.Thr170Ala	missense variant	-	NC_000007.14:g.129203560A>G	ExAC,gnomAD
rs751021028	p.Pro171Thr	missense variant	-	NC_000007.14:g.129203563C>A	ExAC,TOPMed,gnomAD
rs751021028	p.Pro171Ser	missense variant	-	NC_000007.14:g.129203563C>T	ExAC,TOPMed,gnomAD
rs147491841	p.Arg173His	missense variant	-	NC_000007.14:g.129203570G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143083812	p.Arg173Cys	missense variant	-	NC_000007.14:g.129203569C>T	ESP,ExAC,TOPMed,gnomAD
RCV000122081	p.Arg173His	missense variant	-	NC_000007.14:g.129203570G>A	ClinVar
RCV000122079	p.Arg173Cys	missense variant	-	NC_000007.14:g.129203569C>T	ClinVar
COSM6176190	p.Arg173Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129203569C>A	NCI-TCGA Cosmic
rs1243683109	p.Phe174Leu	missense variant	-	NC_000007.14:g.129203572T>C	gnomAD
rs755992889	p.Pro175Arg	missense variant	-	NC_000007.14:g.129203576C>G	ExAC,gnomAD
rs1357793075	p.Pro175Ser	missense variant	-	NC_000007.14:g.129203575C>T	gnomAD
rs1227110645	p.Glu176Lys	missense variant	-	NC_000007.14:g.129203578G>A	TOPMed
rs115491500	p.Thr179Met	missense variant	-	NC_000007.14:g.129203588C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762864493	p.Asn180AsnAsnAlaTrpAspSerProMetValTerArgThrUnk	stop gained	-	NC_000007.14:g.129205204_129205205insCAATGCATGGGACAGTCCTATGGTATAAAGAACTG	ExAC
NCI-TCGA novel	p.Lys186Thr	missense variant	-	NC_000007.14:g.129205222A>C	NCI-TCGA
rs771290147	p.Lys186Arg	missense variant	-	NC_000007.14:g.129205222A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe187Ile	missense variant	-	NC_000007.14:g.129205224T>A	NCI-TCGA
rs1291088639	p.Asn188Ser	missense variant	-	NC_000007.14:g.129205228A>G	TOPMed
rs781705771	p.Ser189Thr	missense variant	-	NC_000007.14:g.129205231G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly191Arg	missense variant	-	NC_000007.14:g.129205236G>C	NCI-TCGA
rs746271504	p.Gly191Ser	missense variant	-	NC_000007.14:g.129205236G>A	ExAC,gnomAD
rs1401316879	p.Gly191Val	missense variant	-	NC_000007.14:g.129205237G>T	TOPMed
rs770138808	p.Gln192His	missense variant	-	NC_000007.14:g.129205241G>C	ExAC,gnomAD
rs1432526925	p.Cys193Tyr	missense variant	-	NC_000007.14:g.129205243G>A	gnomAD
rs761395599	p.Glu194Lys	missense variant	-	NC_000007.14:g.129205245G>A	ExAC,TOPMed,gnomAD
rs138284001	p.Val195Met	missense variant	-	NC_000007.14:g.129205248G>A	ESP,ExAC,TOPMed,gnomAD
rs760210773	p.Val195Ala	missense variant	-	NC_000007.14:g.129205249T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro196Ser	missense variant	-	NC_000007.14:g.129205251C>T	NCI-TCGA
rs201246258	p.Arg199Trp	missense variant	-	NC_000007.14:g.129205260C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759466401	p.Arg199Gln	missense variant	-	NC_000007.14:g.129205261G>A	ExAC,TOPMed,gnomAD
rs759466401	p.Arg199Pro	missense variant	-	NC_000007.14:g.129205261G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn202Lys	missense variant	-	NC_000007.14:g.129205271C>A	NCI-TCGA
rs765069727	p.Asn202Ser	missense variant	-	NC_000007.14:g.129205270A>G	ExAC,gnomAD
rs758505705	p.Lys204Asn	missense variant	-	NC_000007.14:g.129205277G>T	ExAC,TOPMed,gnomAD
rs758505705	p.Lys204Asn	missense variant	-	NC_000007.14:g.129205277G>C	ExAC,TOPMed,gnomAD
rs752969507	p.Lys204Arg	missense variant	-	NC_000007.14:g.129205276A>G	ExAC,gnomAD
rs751636409	p.Trp206Ter	stop gained	-	NC_000007.14:g.129205283G>A	ExAC,TOPMed,gnomAD
rs878919378	p.Glu208Lys	missense variant	-	NC_000007.14:g.129205287G>A	TOPMed,gnomAD
COSM744582	p.Asp209Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205290G>T	NCI-TCGA Cosmic
rs1247135717	p.Val210Met	missense variant	-	NC_000007.14:g.129205293G>A	gnomAD
rs746359530	p.Gly212Ala	missense variant	-	NC_000007.14:g.129205300G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly214Asp	missense variant	-	NC_000007.14:g.129205306G>A	NCI-TCGA
rs370713652	p.Gly214Ser	missense variant	-	NC_000007.14:g.129205305G>A	ESP,ExAC,TOPMed,gnomAD
COSM3831857	p.Ile215Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205310C>G	NCI-TCGA Cosmic
rs1298414584	p.Gln216Glu	missense variant	-	NC_000007.14:g.129205311C>G	TOPMed
rs55789540	p.Gln216Arg	missense variant	-	NC_000007.14:g.129205312A>G	TOPMed
rs747822476	p.Asn219Lys	missense variant	-	NC_000007.14:g.129205322C>G	ExAC,TOPMed,gnomAD
rs200359079	p.Pro220Leu	missense variant	-	NC_000007.14:g.129205324C>T	1000Genomes,TOPMed,gnomAD
rs1404842660	p.Glu224Lys	missense variant	-	NC_000007.14:g.129205335G>A	gnomAD
rs148484943	p.Glu224Asp	missense variant	-	NC_000007.14:g.129205337G>T	ESP,ExAC,TOPMed,gnomAD
RCV000122082	p.Glu224Asp	missense variant	-	NC_000007.14:g.129205337G>T	ClinVar
rs770465007	p.His227Tyr	missense variant	-	NC_000007.14:g.129205344C>T	ExAC,TOPMed,gnomAD
rs776727010	p.Gln228Glu	missense variant	-	NC_000007.14:g.129205347C>G	ExAC,gnomAD
rs776727010	p.Gln228Ter	stop gained	-	NC_000007.14:g.129205347C>T	ExAC,gnomAD
rs759482801	p.Gln228Arg	missense variant	-	NC_000007.14:g.129205348A>G	ExAC,gnomAD
rs1461296028	p.Met230Val	missense variant	-	NC_000007.14:g.129205353A>G	TOPMed
rs142599757	p.Ala235Val	missense variant	-	NC_000007.14:g.129205369C>T	ESP,ExAC,TOPMed,gnomAD
rs762783453	p.Ala235Thr	missense variant	-	NC_000007.14:g.129205368G>A	ExAC,TOPMed,gnomAD
rs146006039	p.Phe237Leu	missense variant	-	NC_000007.14:g.129205376C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750931655	p.Gly238Arg	missense variant	-	NC_000007.14:g.129205377G>A	ExAC,TOPMed,gnomAD
rs1180824222	p.Gly238Glu	missense variant	-	NC_000007.14:g.129205378G>A	gnomAD
rs1473560603	p.Ala239Thr	missense variant	-	NC_000007.14:g.129205380G>A	gnomAD
rs376509030	p.Val240Leu	missense variant	-	NC_000007.14:g.129205383G>C	ESP,ExAC,TOPMed,gnomAD
rs376509030	p.Val240Ile	missense variant	-	NC_000007.14:g.129205383G>A	ESP,ExAC,TOPMed,gnomAD
rs1372875534	p.Gly242Ala	missense variant	-	NC_000007.14:g.129205390G>C	gnomAD
rs1162076106	p.Gly242Cys	missense variant	-	NC_000007.14:g.129205389G>T	gnomAD
rs1162076106	p.Gly242Ser	missense variant	-	NC_000007.14:g.129205389G>A	gnomAD
rs765318599	p.Thr245Met	missense variant	-	NC_000007.14:g.129205399C>T	ExAC,gnomAD
rs1282154899	p.Thr248Ser	missense variant	-	NC_000007.14:g.129205408C>G	TOPMed
rs370649261	p.Phe252Leu	missense variant	-	NC_000007.14:g.129205618C>G	ESP,ExAC,TOPMed,gnomAD
rs1312610843	p.Val253Met	missense variant	-	NC_000007.14:g.129205619G>A	TOPMed
rs753152001	p.Trp256Ter	stop gained	-	NC_000007.14:g.129205629G>A	ExAC,gnomAD
COSM3878019	p.Trp256Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205628T>C	NCI-TCGA Cosmic
rs1428746507	p.Arg257Trp	missense variant	-	NC_000007.14:g.129205631C>T	gnomAD
rs758800465	p.Arg257Gln	missense variant	-	NC_000007.14:g.129205632G>A	ExAC,TOPMed,gnomAD
COSM3878021	p.Ser259Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205638C>T	NCI-TCGA Cosmic
rs779548739	p.Arg261His	missense variant	-	NC_000007.14:g.129205644G>A	ExAC,TOPMed,gnomAD
rs755698791	p.Arg261Cys	missense variant	-	NC_000007.14:g.129205643C>T	ExAC,TOPMed,gnomAD
rs749213205	p.Tyr262Phe	missense variant	-	NC_000007.14:g.129205647A>T	ExAC,gnomAD
COSM1448010	p.Ala264Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205652G>T	NCI-TCGA Cosmic
rs1320851344	p.Ile266Thr	missense variant	-	NC_000007.14:g.129205659T>C	gnomAD
NCI-TCGA novel	p.Phe268Leu	missense variant	-	NC_000007.14:g.129205664T>C	NCI-TCGA
NCI-TCGA novel	p.Tyr269Ter	stop gained	-	NC_000007.14:g.129205669C>A	NCI-TCGA
rs111694017	p.Val270Ile	missense variant	-	NC_000007.14:g.129205670G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000122083	p.Val270Ile	missense variant	-	NC_000007.14:g.129205670G>A	ClinVar
rs1192199125	p.Asn271Ser	missense variant	-	NC_000007.14:g.129205674A>G	gnomAD
NCI-TCGA novel	p.Ala272Glu	missense variant	-	NC_000007.14:g.129205677C>A	NCI-TCGA
rs748004767	p.Ala272Val	missense variant	-	NC_000007.14:g.129205677C>T	ExAC,gnomAD
rs1373021910	p.Cys273Phe	missense variant	-	NC_000007.14:g.129205680G>T	TOPMed
rs1453813978	p.Cys273Trp	missense variant	-	NC_000007.14:g.129205681C>G	gnomAD
rs1191616925	p.Phe274Cys	missense variant	-	NC_000007.14:g.129205683T>G	TOPMed
rs951840772	p.Phe275Leu	missense variant	-	NC_000007.14:g.129205685T>C	TOPMed
rs145388517	p.Ile279Thr	missense variant	-	NC_000007.14:g.129205698T>C	ESP,ExAC,TOPMed,gnomAD
rs1268833300	p.Gly280Ser	missense variant	-	NC_000007.14:g.129205700G>A	gnomAD
COSM1312676	p.Gly280Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205700G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp281Ter	stop gained	-	NC_000007.14:g.129205705G>A	NCI-TCGA
rs770949067	p.Trp281Cys	missense variant	-	NC_000007.14:g.129205705G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala283Ser	missense variant	-	NC_000007.14:g.129205709G>T	NCI-TCGA
rs759508731	p.Met286Thr	missense variant	-	NC_000007.14:g.129205719T>C	ExAC,TOPMed,gnomAD
COSM4844427	p.Asp287His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205721G>C	NCI-TCGA Cosmic
rs1356706860	p.Ala289Gly	missense variant	-	NC_000007.14:g.129205728C>G	TOPMed
rs1156577972	p.Arg290Cys	missense variant	-	NC_000007.14:g.129205730C>T	TOPMed,gnomAD
rs775852783	p.Arg290His	missense variant	-	NC_000007.14:g.129205731G>A	ExAC,gnomAD
rs948837758	p.Arg291Gln	missense variant	-	NC_000007.14:g.129205734G>A	TOPMed,gnomAD
rs1405848770	p.Arg291Ter	stop gained	-	NC_000007.14:g.129205733C>T	gnomAD
rs948837758	p.Arg291Leu	missense variant	-	NC_000007.14:g.129205734G>T	TOPMed,gnomAD
rs1278882875	p.Ile293Phe	missense variant	-	NC_000007.14:g.129205739A>T	TOPMed
rs764495218	p.Val294Phe	missense variant	-	NC_000007.14:g.129205742G>T	ExAC,TOPMed,gnomAD
rs1325709268	p.Val294Ala	missense variant	-	NC_000007.14:g.129205743T>C	TOPMed
rs764495218	p.Val294Ile	missense variant	-	NC_000007.14:g.129205742G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys295Ser	missense variant	-	NC_000007.14:g.129205746G>C	NCI-TCGA
rs772693769	p.Arg296Leu	missense variant	-	NC_000007.14:g.129205749G>T	ExAC,TOPMed,gnomAD
rs772693769	p.Arg296His	missense variant	-	NC_000007.14:g.129205749G>A	ExAC,TOPMed,gnomAD
rs372843274	p.Arg296Cys	missense variant	-	NC_000007.14:g.129205748C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala297Val	missense variant	-	NC_000007.14:g.129205752C>T	NCI-TCGA
rs778968208	p.Met301Thr	missense variant	-	NC_000007.14:g.129205764T>C	ExAC,TOPMed,gnomAD
rs778968208	p.Met301Arg	missense variant	-	NC_000007.14:g.129205764T>G	ExAC,TOPMed,gnomAD
rs754444361	p.Met301Val	missense variant	-	NC_000007.14:g.129205763A>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg302Lys	missense variant	-	NC_000007.14:g.129205767G>A	NCI-TCGA
rs748021309	p.Leu303Phe	missense variant	-	NC_000007.14:g.129205769C>T	ExAC,gnomAD
COSM1085428	p.Leu303Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205769C>A	NCI-TCGA Cosmic
rs146911173	p.Thr307Ala	missense variant	-	NC_000007.14:g.129205781A>G	ESP,ExAC,gnomAD
rs201012381	p.Thr307Ile	missense variant	-	NC_000007.14:g.129205782C>T	ExAC,TOPMed,gnomAD
rs555149421	p.Asn309Ser	missense variant	-	NC_000007.14:g.129206155A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765279156	p.Val315Ile	missense variant	-	NC_000007.14:g.129206172G>A	TOPMed,gnomAD
rs777668516	p.Ile316Val	missense variant	-	NC_000007.14:g.129206175A>G	ExAC,gnomAD
rs1307431013	p.Val321Met	missense variant	-	NC_000007.14:g.129206190G>A	gnomAD
rs1307431013	p.Val321Leu	missense variant	-	NC_000007.14:g.129206190G>T	gnomAD
rs746016396	p.Tyr322Ter	stop gained	-	NC_000007.14:g.129206195C>G	ExAC,TOPMed,gnomAD
rs369361865	p.Leu325Pro	missense variant	-	NC_000007.14:g.129206203T>C	ESP,ExAC,gnomAD
rs371993481	p.Ala327Thr	missense variant	-	NC_000007.14:g.129206208G>A	ESP,ExAC,TOPMed,gnomAD
rs1260869369	p.Gly328Ala	missense variant	-	NC_000007.14:g.129206212G>C	gnomAD
COSM1645392	p.Gly328Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206212G>A	NCI-TCGA Cosmic
rs769334511	p.Val329Gly	missense variant	-	NC_000007.14:g.129206215T>G	ExAC,TOPMed,gnomAD
rs774996267	p.Val334Ile	missense variant	-	NC_000007.14:g.129206229G>A	ExAC,gnomAD
rs1401528754	p.Val334Gly	missense variant	-	NC_000007.14:g.129206230T>G	TOPMed
NCI-TCGA novel	p.Thr336Ala	missense variant	-	NC_000007.14:g.129206235A>G	NCI-TCGA
rs762297325	p.His340Tyr	missense variant	-	NC_000007.14:g.129206247C>T	ExAC,gnomAD
rs762297325	p.His340Asn	missense variant	-	NC_000007.14:g.129206247C>A	ExAC,gnomAD
rs1390410557	p.Thr341Ala	missense variant	-	NC_000007.14:g.129206250A>G	gnomAD
NCI-TCGA novel	p.Leu346Arg	missense variant	-	NC_000007.14:g.129206266T>G	NCI-TCGA
rs764753855	p.Thr348Pro	missense variant	-	NC_000007.14:g.129206271A>C	ExAC,TOPMed
rs752255586	p.Thr349Pro	missense variant	-	NC_000007.14:g.129206274A>C	ExAC
rs752255586	p.Thr349Ala	missense variant	-	NC_000007.14:g.129206274A>G	ExAC
rs201916476	p.Tyr350Ser	missense variant	-	NC_000007.14:g.129206278A>C	ExAC,TOPMed,gnomAD
rs201916476	p.Tyr350Cys	missense variant	-	NC_000007.14:g.129206278A>G	ExAC,TOPMed,gnomAD
rs751483603	p.Gln351Lys	missense variant	-	NC_000007.14:g.129206280C>A	ExAC,gnomAD
rs757084526	p.Leu353Val	missense variant	-	NC_000007.14:g.129206286C>G	ExAC,gnomAD
rs200099832	p.Ser354Leu	missense variant	-	NC_000007.14:g.129206290C>T	gnomAD
NCI-TCGA novel	p.Gly355Arg	missense variant	-	NC_000007.14:g.129206292G>C	NCI-TCGA
rs958979411	p.Gly355Ser	missense variant	-	NC_000007.14:g.129206292G>A	-
rs756239310	p.His361Tyr	missense variant	-	NC_000007.14:g.129206310C>T	ExAC,gnomAD
COSM6108668	p.Leu362Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206314T>G	NCI-TCGA Cosmic
rs780399753	p.Leu363Phe	missense variant	-	NC_000007.14:g.129206316C>T	ExAC,gnomAD
rs374812951	p.Pro368Ala	missense variant	-	NC_000007.14:g.129206331C>G	ESP,ExAC,TOPMed,gnomAD
rs374812951	p.Pro368Ser	missense variant	-	NC_000007.14:g.129206331C>T	ESP,ExAC,TOPMed,gnomAD
rs1479795628	p.Phe369Tyr	missense variant	-	NC_000007.14:g.129206335T>A	gnomAD
rs748537025	p.Val373Met	missense variant	-	NC_000007.14:g.129206346G>A	ExAC,gnomAD
rs957422674	p.Ile375Val	missense variant	-	NC_000007.14:g.129206352A>G	TOPMed,gnomAD
rs1268449742	p.Ile375Asn	missense variant	-	NC_000007.14:g.129206353T>A	TOPMed
rs146823157	p.Val378Met	missense variant	-	NC_000007.14:g.129206361G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761081288	p.Ala379Val	missense variant	-	NC_000007.14:g.129206365C>T	ExAC,gnomAD
rs1371471706	p.Asp382Asn	missense variant	-	NC_000007.14:g.129206467G>A	gnomAD
rs1247814517	p.Asp382Gly	missense variant	-	NC_000007.14:g.129206468A>G	gnomAD
rs1371471706	p.Asp382Tyr	missense variant	-	NC_000007.14:g.129206467G>T	gnomAD
rs773684844	p.Val386Gly	missense variant	-	NC_000007.14:g.129206480T>G	ExAC,gnomAD
rs1312696920	p.Val386Met	missense variant	-	NC_000007.14:g.129206479G>A	gnomAD
NCI-TCGA novel	p.Ser387Thr	missense variant	-	NC_000007.14:g.129206483G>C	NCI-TCGA
rs761361549	p.Ser387Asn	missense variant	-	NC_000007.14:g.129206483G>A	ExAC,TOPMed,gnomAD
rs1275067872	p.Gly393Asp	missense variant	-	NC_000007.14:g.129206501G>A	gnomAD
COSM3878023	p.Tyr394His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206503T>C	NCI-TCGA Cosmic
rs1203228554	p.Asn396Ser	missense variant	-	NC_000007.14:g.129206510A>G	TOPMed,gnomAD
rs1203228554	p.Asn396Thr	missense variant	-	NC_000007.14:g.129206510A>C	TOPMed,gnomAD
rs773189809	p.Tyr397Cys	missense variant	-	NC_000007.14:g.129206513A>G	ExAC,TOPMed,gnomAD
COSM6176189	p.Tyr397Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.129206514C>A	NCI-TCGA Cosmic
rs1199769385	p.Arg398Ter	stop gained	-	NC_000007.14:g.129206515C>T	TOPMed
rs760560948	p.Arg398Gln	missense variant	-	NC_000007.14:g.129206516G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg400Leu	missense variant	-	NC_000007.14:g.129206522G>T	NCI-TCGA
rs754146515	p.Arg400His	missense variant	-	NC_000007.14:g.129206522G>A	ExAC,TOPMed,gnomAD
rs766211091	p.Arg400Cys	missense variant	-	NC_000007.14:g.129206521C>T	ExAC,gnomAD
rs755206241	p.Ala401Thr	missense variant	-	NC_000007.14:g.129206524G>A	ExAC,gnomAD
rs765478037	p.Ala401Val	missense variant	-	NC_000007.14:g.129206525C>T	ExAC,TOPMed,gnomAD
rs1328275322	p.Gly402Asp	missense variant	-	NC_000007.14:g.129206528G>A	gnomAD
rs1410545715	p.Gly402Cys	missense variant	-	NC_000007.14:g.129206527G>T	gnomAD
rs1044964080	p.Val404Leu	missense variant	-	NC_000007.14:g.129206533G>C	TOPMed,gnomAD
rs1044964080	p.Val404Met	missense variant	-	NC_000007.14:g.129206533G>A	TOPMed,gnomAD
rs757620819	p.Ala406Thr	missense variant	-	NC_000007.14:g.129206539G>A	ExAC,TOPMed,gnomAD
rs748959667	p.Ile408Val	missense variant	-	NC_000007.14:g.129206545A>G	ExAC,TOPMed,gnomAD
rs1213477185	p.Gly409Ser	missense variant	-	NC_000007.14:g.129206548G>A	gnomAD
rs1325213272	p.Val411Ala	missense variant	-	NC_000007.14:g.129206555T>C	TOPMed,gnomAD
rs1270338441	p.Val411Met	missense variant	-	NC_000007.14:g.129206554G>A	gnomAD
rs879255280	p.Leu412Phe	missense variant	Curry-Jones syndrome (CRJS)	NC_000007.14:g.129206557C>T	UniProt,dbSNP
VAR_077087	p.Leu412Phe	missense variant	Curry-Jones syndrome (CRJS)	NC_000007.14:g.129206557C>T	UniProt
rs879255280	p.Leu412Phe	missense variant	-	NC_000007.14:g.129206557C>T	-
rs1203946691	p.Leu412Pro	missense variant	-	NC_000007.14:g.129206558T>C	gnomAD
RCV000236033	p.Leu412Phe	missense variant	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development (CRJS)	NC_000007.14:g.129206557C>T	ClinVar
rs1461109867	p.Val414Met	missense variant	-	NC_000007.14:g.129206563G>A	TOPMed,gnomAD
COSM6108667	p.Val414Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206564T>C	NCI-TCGA Cosmic
rs370601251	p.Gly415Glu	missense variant	-	NC_000007.14:g.129206567G>A	ESP,ExAC,TOPMed,gnomAD
COSM3831859	p.Gly415Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206567G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly416Cys	missense variant	-	NC_000007.14:g.129206569G>T	NCI-TCGA
rs1167385575	p.Tyr417Ter	stop gained	-	NC_000007.14:g.129206574C>A	gnomAD
rs1382535412	p.Leu419Phe	missense variant	-	NC_000007.14:g.129206578C>T	TOPMed
rs968935409	p.Arg421Gln	missense variant	-	NC_000007.14:g.129206585G>A	TOPMed,gnomAD
rs781646841	p.Val423Ile	missense variant	-	NC_000007.14:g.129208761G>A	ExAC,gnomAD
rs781646841	p.Val423Phe	missense variant	-	NC_000007.14:g.129208761G>T	ExAC,gnomAD
rs778444675	p.Thr425Ile	missense variant	-	NC_000007.14:g.129208768C>T	ExAC,gnomAD
rs1347338942	p.Lys430Arg	missense variant	-	NC_000007.14:g.129208783A>G	gnomAD
rs1029412439	p.Gly435Arg	missense variant	-	NC_000007.14:g.129208797G>A	TOPMed
rs1343241795	p.Leu436Met	missense variant	-	NC_000007.14:g.129208800C>A	gnomAD
rs1279802916	p.Ser438Gly	missense variant	-	NC_000007.14:g.129208806A>G	TOPMed,gnomAD
COSM452321	p.Glu439Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129208809G>A	NCI-TCGA Cosmic
rs776710632	p.Lys440Arg	missense variant	-	NC_000007.14:g.129208813A>G	ExAC,gnomAD
rs1374043825	p.Lys440Asn	missense variant	-	NC_000007.14:g.129208814G>C	TOPMed,gnomAD
rs1284416222	p.Lys444Asn	missense variant	-	NC_000007.14:g.129208826G>C	gnomAD
rs536563919	p.Asn446Lys	missense variant	-	NC_000007.14:g.129208832C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs759466497	p.Asn446Ser	missense variant	-	NC_000007.14:g.129208831A>G	ExAC,gnomAD
rs1006687669	p.Glu447Lys	missense variant	-	NC_000007.14:g.129208833G>A	TOPMed,gnomAD
rs930201798	p.Met449Thr	missense variant	-	NC_000007.14:g.129208840T>C	TOPMed
rs1016878137	p.Met449Val	missense variant	-	NC_000007.14:g.129208839A>G	TOPMed
rs763192441	p.Arg451Cys	missense variant	-	NC_000007.14:g.129208845C>T	ExAC,TOPMed,gnomAD
rs1204546630	p.Arg451His	missense variant	-	NC_000007.14:g.129208846G>A	TOPMed
COSM6108666	p.Arg451Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129208845C>A	NCI-TCGA Cosmic
rs1262352194	p.Leu452Pro	missense variant	-	NC_000007.14:g.129208849T>C	TOPMed
rs1252025906	p.Phe457Ser	missense variant	-	NC_000007.14:g.129209301T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala459Ser	missense variant	-	NC_000007.14:g.129209306G>T	NCI-TCGA
rs1196940337	p.Leu464Phe	missense variant	-	NC_000007.14:g.129209321C>T	gnomAD
rs867910815	p.Thr466Ala	missense variant	-	NC_000007.14:g.129209327A>G	TOPMed
COSM6176188	p.Thr466Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129209328C>A	NCI-TCGA Cosmic
rs773739100	p.Ser468Thr	missense variant	-	NC_000007.14:g.129209334G>C	ExAC,gnomAD
COSM3878025	p.Ser468Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129209333A>G	NCI-TCGA Cosmic
rs1304391104	p.Phe471Val	missense variant	-	NC_000007.14:g.129209342T>G	TOPMed
rs17710891	p.Asp473His	missense variant	-	NC_000007.14:g.129209348G>C	UniProt,dbSNP
VAR_037891	p.Asp473His	missense variant	-	NC_000007.14:g.129209348G>C	UniProt
rs17710891	p.Asp473His	missense variant	-	NC_000007.14:g.129209348G>C	ExAC,TOPMed,gnomAD
rs17710891	p.Asp473Asn	missense variant	-	NC_000007.14:g.129209348G>A	ExAC,TOPMed,gnomAD
RCV000441195	p.Asp473His	missense variant	Basal cell carcinoma	NC_000007.14:g.129209348G>C	ClinVar
RCV000122084	p.Asp473Asn	missense variant	-	NC_000007.14:g.129209348G>A	ClinVar
RCV000431122	p.Asp473His	missense variant	Medulloblastoma (MDB)	NC_000007.14:g.129209348G>C	ClinVar
rs1316076818	p.Asn476His	missense variant	-	NC_000007.14:g.129209357A>C	TOPMed
NCI-TCGA novel	p.Asn476Lys	missense variant	-	NC_000007.14:g.129209359C>G	NCI-TCGA
rs759391766	p.Trp480Ter	stop gained	-	NC_000007.14:g.129209370G>A	TOPMed
rs755295928	p.Arg482Cys	missense variant	-	NC_000007.14:g.129209375C>T	ExAC,gnomAD
rs755295928	p.Arg482Ser	missense variant	-	NC_000007.14:g.129209375C>A	ExAC,gnomAD
rs763900781	p.Arg482His	missense variant	-	NC_000007.14:g.129209376G>A	ExAC,TOPMed,gnomAD
rs1406380496	p.Ser483Ile	missense variant	-	NC_000007.14:g.129209379G>T	gnomAD
rs756828715	p.Arg485Trp	missense variant	-	NC_000007.14:g.129209384C>T	ExAC,TOPMed,gnomAD
rs780804609	p.Arg485Gln	missense variant	-	NC_000007.14:g.129209385G>A	ExAC,gnomAD
rs1193567638	p.Asp486Asn	missense variant	-	NC_000007.14:g.129209387G>A	gnomAD
rs552604250	p.Val488Met	missense variant	-	NC_000007.14:g.129209393G>A	ExAC,TOPMed,gnomAD
COSM1085434	p.Cys490Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.129210366T>A	NCI-TCGA Cosmic
rs749120623	p.Asn493Ser	missense variant	-	NC_000007.14:g.129210374A>G	ExAC,gnomAD
rs891306097	p.Thr495Ser	missense variant	-	NC_000007.14:g.129210380C>G	TOPMed
rs1479888709	p.Ile496Val	missense variant	-	NC_000007.14:g.129210382A>G	gnomAD
rs377573054	p.Gly497Arg	missense variant	-	NC_000007.14:g.129210385G>A	ESP,ExAC,TOPMed,gnomAD
rs1160371442	p.Leu498Val	missense variant	-	NC_000007.14:g.129210388C>G	gnomAD
rs576639096	p.Pro499Ser	missense variant	-	NC_000007.14:g.129210391C>T	1000Genomes,ExAC,gnomAD
rs1418457699	p.Pro499Leu	missense variant	-	NC_000007.14:g.129210392C>T	gnomAD
rs1435873545	p.Pro505Leu	missense variant	-	NC_000007.14:g.129210410C>T	gnomAD
NCI-TCGA novel	p.Glu508Asp	missense variant	-	NC_000007.14:g.129210420G>T	NCI-TCGA
rs1291948600	p.Lys510Glu	missense variant	-	NC_000007.14:g.129210424A>G	gnomAD
rs777204354	p.Arg512His	missense variant	-	NC_000007.14:g.129210431G>A	ExAC,TOPMed,gnomAD
rs777204354	p.Arg512Leu	missense variant	-	NC_000007.14:g.129210431G>T	ExAC,TOPMed,gnomAD
rs1018551272	p.Arg512Cys	missense variant	-	NC_000007.14:g.129210430C>T	TOPMed
rs537363837	p.Ser514Cys	missense variant	-	NC_000007.14:g.129210436A>T	1000Genomes,ExAC,gnomAD
rs537363837	p.Ser514Arg	missense variant	-	NC_000007.14:g.129210436A>C	1000Genomes,ExAC,gnomAD
rs776043436	p.Ser514Asn	missense variant	-	NC_000007.14:g.129210437G>A	ExAC,TOPMed,gnomAD
rs1187720431	p.Ser514Arg	missense variant	-	NC_000007.14:g.129210438C>G	TOPMed
rs559229569	p.Leu516Val	missense variant	-	NC_000007.14:g.129210442C>G	1000Genomes,ExAC,gnomAD
rs767343673	p.Leu516Pro	missense variant	-	NC_000007.14:g.129210443T>C	ExAC,gnomAD
rs750029091	p.Ile520Thr	missense variant	-	NC_000007.14:g.129210455T>C	ExAC,gnomAD
rs1218748049	p.Ile520Val	missense variant	-	NC_000007.14:g.129210454A>G	gnomAD
NCI-TCGA novel	p.Phe523Cys	missense variant	-	NC_000007.14:g.129210464T>G	NCI-TCGA
NCI-TCGA novel	p.Ala524Asp	missense variant	-	NC_000007.14:g.129210467C>A	NCI-TCGA
rs760245355	p.Phe526Leu	missense variant	-	NC_000007.14:g.129210474T>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr528Asn	missense variant	-	NC_000007.14:g.129210479C>A	NCI-TCGA
COSM3633168	p.Thr528Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129210478A>G	NCI-TCGA Cosmic
rs370484649	p.Ala531Thr	missense variant	-	NC_000007.14:g.129210487G>A	ESP,ExAC,gnomAD
COSM13144	p.Ser533Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129210494G>A	NCI-TCGA Cosmic
rs121918347	p.Trp535Leu	missense variant	-	NC_000007.14:g.129210500G>T	UniProt,dbSNP
VAR_007848	p.Trp535Leu	missense variant	-	NC_000007.14:g.129210500G>T	UniProt
rs121918347	p.Trp535Leu	missense variant	-	NC_000007.14:g.129210500G>T	-
RCV000008586	p.Trp535Leu	missense variant	Basal cell carcinoma, somatic	NC_000007.14:g.129210500G>T	ClinVar
rs754958172	p.Val536Ala	missense variant	-	NC_000007.14:g.129210503T>C	ExAC,gnomAD
rs1367686794	p.Val536Ile	missense variant	-	NC_000007.14:g.129210502G>A	TOPMed,gnomAD
rs778791846	p.Ala540Val	missense variant	-	NC_000007.14:g.129210515C>T	ExAC,TOPMed,gnomAD
rs1162853719	p.Thr541Met	missense variant	-	NC_000007.14:g.129210518C>T	TOPMed,gnomAD
rs752557747	p.Leu543Phe	missense variant	-	NC_000007.14:g.129210523C>T	ExAC,TOPMed,gnomAD
rs541067642	p.Ile544Val	missense variant	-	NC_000007.14:g.129210526A>G	1000Genomes,ExAC,gnomAD
rs778073136	p.Arg546Lys	missense variant	-	NC_000007.14:g.129210533G>A	ExAC,gnomAD
rs771078092	p.Arg547His	missense variant	-	NC_000007.14:g.129210536G>A	ExAC,TOPMed,gnomAD
rs747136892	p.Arg547Cys	missense variant	-	NC_000007.14:g.129210535C>T	ExAC,gnomAD
COSM6108665	p.Arg547Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129210536G>T	NCI-TCGA Cosmic
rs1226100694	p.Thr548Ile	missense variant	-	NC_000007.14:g.129210539C>T	gnomAD
rs1274560943	p.Arg551Lys	missense variant	-	NC_000007.14:g.129210548G>A	gnomAD
rs537683811	p.Gln555Lys	missense variant	-	NC_000007.14:g.129210975C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780718707	p.Ser556Asn	missense variant	-	NC_000007.14:g.129210979G>A	ExAC,gnomAD
rs780718707	p.Ser556Thr	missense variant	-	NC_000007.14:g.129210979G>C	ExAC,gnomAD
rs774627960	p.Asp558Asn	missense variant	-	NC_000007.14:g.129210984G>A	ExAC,gnomAD
rs1409257755	p.Asp558Val	missense variant	-	NC_000007.14:g.129210985A>T	TOPMed
rs924484051	p.Pro560Gln	missense variant	-	NC_000007.14:g.129210991C>A	TOPMed
rs1320135367	p.Lys561Arg	missense variant	-	NC_000007.14:g.129210994A>G	gnomAD
rs121918348	p.Arg562Gln	missense variant	-	NC_000007.14:g.129210997G>A	UniProt,dbSNP
VAR_007849	p.Arg562Gln	missense variant	-	NC_000007.14:g.129210997G>A	UniProt
rs121918348	p.Arg562Gln	missense variant	-	NC_000007.14:g.129210997G>A	ExAC,TOPMed,gnomAD
rs138072219	p.Arg562Trp	missense variant	-	NC_000007.14:g.129210996C>T	ESP,ExAC,gnomAD
RCV000008587	p.Arg562Gln	missense variant	Basal cell carcinoma, somatic	NC_000007.14:g.129210997G>A	ClinVar
rs776255351	p.Ile563Met	missense variant	-	NC_000007.14:g.129211001C>G	ExAC,gnomAD
rs1223793743	p.Ser566Asn	missense variant	-	NC_000007.14:g.129211009G>A	gnomAD
rs1180041451	p.Lys567Arg	missense variant	-	NC_000007.14:g.129211012A>G	TOPMed
NCI-TCGA novel	p.Met568Val	missense variant	-	NC_000007.14:g.129211014A>G	NCI-TCGA
rs1344696852	p.Ile569Thr	missense variant	-	NC_000007.14:g.129211018T>C	gnomAD
rs775441067	p.Ala570Ser	missense variant	-	NC_000007.14:g.129211020G>T	ExAC,gnomAD
rs762755297	p.Lys571Arg	missense variant	-	NC_000007.14:g.129211024A>G	ExAC,gnomAD
rs1208114158	p.Ser574Ala	missense variant	-	NC_000007.14:g.129211032T>G	TOPMed
rs764065797	p.Ser574Cys	missense variant	-	NC_000007.14:g.129211033C>G	ExAC
rs56383695	p.Lys575Met	missense variant	-	NC_000007.14:g.129211036A>T	ExAC,TOPMed,gnomAD
rs767688088	p.Arg576Trp	missense variant	-	NC_000007.14:g.129211038C>T	ExAC,TOPMed,gnomAD
rs577512487	p.Arg576Gln	missense variant	-	NC_000007.14:g.129211039G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146040859	p.His577Gln	missense variant	-	NC_000007.14:g.129211043C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199785269	p.His577Arg	missense variant	-	NC_000007.14:g.129211042A>G	gnomAD
rs61740964	p.Glu578Lys	missense variant	-	NC_000007.14:g.129211044G>A	ESP,TOPMed,gnomAD
rs1408612211	p.Asn582Ser	missense variant	-	NC_000007.14:g.129211057A>G	gnomAD
rs756558145	p.Pro583Ala	missense variant	-	NC_000007.14:g.129211059C>G	ExAC,gnomAD
rs1295781595	p.Gly584Ser	missense variant	-	NC_000007.14:g.129211062G>A	gnomAD
rs1336850878	p.Gln585Glu	missense variant	-	NC_000007.14:g.129211065C>G	TOPMed
rs1366851376	p.Gln585His	missense variant	-	NC_000007.14:g.129211067G>T	gnomAD
rs1456202164	p.Glu586Gln	missense variant	-	NC_000007.14:g.129211068G>C	TOPMed
rs779471371	p.Ser588Thr	missense variant	-	NC_000007.14:g.129211074T>A	ExAC,TOPMed,gnomAD
rs748520705	p.Ser588Tyr	missense variant	-	NC_000007.14:g.129211075C>A	ExAC,TOPMed,gnomAD
rs114406835	p.Ser590Thr	missense variant	-	NC_000007.14:g.129211081G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs114406835	p.Ser590Asn	missense variant	-	NC_000007.14:g.129211081G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745484832	p.Met591Val	missense variant	-	NC_000007.14:g.129211083A>G	ExAC,TOPMed,gnomAD
rs749648986	p.Met591Arg	missense variant	-	NC_000007.14:g.129211084T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser595Phe	missense variant	-	NC_000007.14:g.129211096C>T	NCI-TCGA
rs371203309	p.His596Gln	missense variant	-	NC_000007.14:g.129211100C>A	ESP,ExAC,TOPMed,gnomAD
rs989582182	p.Asp597His	missense variant	-	NC_000007.14:g.129211101G>C	gnomAD
rs989582182	p.Asp597Asn	missense variant	-	NC_000007.14:g.129211101G>A	gnomAD
rs762491039	p.Gly598Arg	missense variant	-	NC_000007.14:g.129211104G>A	ExAC,TOPMed,gnomAD
COSM3878028	p.Gly598Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211104G>T	NCI-TCGA Cosmic
rs1156714683	p.Pro599Leu	missense variant	-	NC_000007.14:g.129211108C>T	gnomAD
COSM421601	p.Pro599His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211108C>A	NCI-TCGA Cosmic
rs767352128	p.Val600Leu	missense variant	-	NC_000007.14:g.129211110G>T	ExAC,TOPMed,gnomAD
rs767352128	p.Val600Met	missense variant	-	NC_000007.14:g.129211110G>A	ExAC,TOPMed,gnomAD
rs1216671158	p.Ala601Val	missense variant	-	NC_000007.14:g.129211636C>T	gnomAD
rs372338093	p.Gly602Ser	missense variant	-	NC_000007.14:g.129211638G>A	ESP,ExAC,TOPMed,gnomAD
rs1201079205	p.Gly602Ala	missense variant	-	NC_000007.14:g.129211639G>C	gnomAD
rs369778787	p.Ala604Ser	missense variant	-	NC_000007.14:g.129211644G>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Ala604Val	missense variant	-	NC_000007.14:g.129211645C>T	NCI-TCGA
rs369778787	p.Ala604Thr	missense variant	-	NC_000007.14:g.129211644G>A	ESP,TOPMed,gnomAD
rs755362549	p.Asn608Ser	missense variant	-	NC_000007.14:g.129211657A>G	ExAC,TOPMed,gnomAD
rs755362549	p.Asn608Ile	missense variant	-	NC_000007.14:g.129211657A>T	ExAC,TOPMed,gnomAD
rs1299372923	p.Pro610Thr	missense variant	-	NC_000007.14:g.129211662C>A	gnomAD
rs779588453	p.Pro610His	missense variant	-	NC_000007.14:g.129211663C>A	ExAC,TOPMed,gnomAD
rs748905934	p.Ala612Gly	missense variant	-	NC_000007.14:g.129211669C>G	ExAC,gnomAD
COSM3922682	p.Ala612Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211668G>A	NCI-TCGA Cosmic
rs778438994	p.Ala617Gly	missense variant	-	NC_000007.14:g.129211684C>G	ExAC,gnomAD
rs1385995572	p.Trp618Ter	stop gained	-	NC_000007.14:g.129211688G>A	gnomAD
rs1031386726	p.His621Tyr	missense variant	-	NC_000007.14:g.129211695C>T	TOPMed
rs1186047164	p.Val622Ile	missense variant	-	NC_000007.14:g.129211698G>A	TOPMed
rs201898555	p.Arg628Gln	missense variant	-	NC_000007.14:g.129211717G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201898555	p.Arg628Leu	missense variant	-	NC_000007.14:g.129211717G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201898555	p.Arg628Pro	missense variant	-	NC_000007.14:g.129211717G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200477210	p.Arg628Trp	missense variant	-	NC_000007.14:g.129211716C>T	1000Genomes,ExAC,gnomAD
rs765350977	p.Pro634Ser	missense variant	-	NC_000007.14:g.129211734C>T	ExAC,gnomAD
COSM6176187	p.Pro634Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211735C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln635ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.129211734C>-	NCI-TCGA
NCI-TCGA novel	p.Gln635Ter	stop gained	-	NC_000007.14:g.129211737C>T	NCI-TCGA
COSM1085440	p.Gln635His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211739G>T	NCI-TCGA Cosmic
COSM3633169	p.Asp636Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211740G>A	NCI-TCGA Cosmic
rs1487988140	p.Ile637Leu	missense variant	-	NC_000007.14:g.129211743A>C	gnomAD
rs1008714235	p.Ser638Ala	missense variant	-	NC_000007.14:g.129211746T>G	TOPMed
NCI-TCGA novel	p.Val639Ala	missense variant	-	NC_000007.14:g.129211750T>C	NCI-TCGA
NCI-TCGA novel	p.Thr640Ser	missense variant	-	NC_000007.14:g.129211752A>T	NCI-TCGA
rs146200641	p.Pro641Ala	missense variant	-	NC_000007.14:g.129211755C>G	ESP,ExAC,TOPMed,gnomAD
COSM6176186	p.Pro641Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211756C>G	NCI-TCGA Cosmic
RCV000122436	p.Pro641Ala	missense variant	-	NC_000007.14:g.129211755C>G	ClinVar
COSM6108664	p.Val642Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211758G>T	NCI-TCGA Cosmic
rs764646280	p.Ala643Thr	missense variant	-	NC_000007.14:g.129211761G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro645Thr	missense variant	-	NC_000007.14:g.129211767C>A	NCI-TCGA
rs752958692	p.Pro645Leu	missense variant	-	NC_000007.14:g.129211768C>T	gnomAD
rs367857454	p.Val646Met	missense variant	-	NC_000007.14:g.129211770G>A	ESP,ExAC,TOPMed,gnomAD
rs780158670	p.Pro647Leu	missense variant	-	NC_000007.14:g.129212027C>T	TOPMed
rs34545616	p.Pro647Thr	missense variant	-	NC_000007.14:g.129212026C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34545616	p.Pro647Ser	missense variant	-	NC_000007.14:g.129212026C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000514158	p.Pro647Ser	missense variant	-	NC_000007.14:g.129212026C>T	ClinVar
rs1052801199	p.Pro648Leu	missense variant	-	NC_000007.14:g.129212030C>T	TOPMed,gnomAD
rs1052801199	p.Pro648Arg	missense variant	-	NC_000007.14:g.129212030C>G	TOPMed,gnomAD
rs1442264163	p.Pro648Ser	missense variant	-	NC_000007.14:g.129212029C>T	gnomAD
rs1344888015	p.Glu649Gly	missense variant	-	NC_000007.14:g.129212033A>G	gnomAD
rs1354414565	p.Gln651Lys	missense variant	-	NC_000007.14:g.129212038C>A	gnomAD
rs751176869	p.Gln651Arg	missense variant	-	NC_000007.14:g.129212039A>G	ExAC,gnomAD
rs756712814	p.Ala652Thr	missense variant	-	NC_000007.14:g.129212041G>A	ExAC,TOPMed,gnomAD
rs781206531	p.Asn653Ser	missense variant	-	NC_000007.14:g.129212045A>G	ExAC,TOPMed,gnomAD
rs1199268301	p.Trp655Ter	stop gained	-	NC_000007.14:g.129212052G>A	gnomAD
rs1199268301	p.Trp655Cys	missense variant	-	NC_000007.14:g.129212052G>C	gnomAD
rs1452363813	p.Glu660Gln	missense variant	-	NC_000007.14:g.129212065G>C	gnomAD
rs1454093487	p.Glu660Gly	missense variant	-	NC_000007.14:g.129212066A>G	TOPMed
rs1180366526	p.Ile661Met	missense variant	-	NC_000007.14:g.129212070C>G	gnomAD
rs1380849654	p.Pro663Ser	missense variant	-	NC_000007.14:g.129212074C>T	gnomAD
rs1418557662	p.Pro663Leu	missense variant	-	NC_000007.14:g.129212075C>T	gnomAD
rs779777438	p.Arg668Cys	missense variant	-	NC_000007.14:g.129212089C>T	ExAC,TOPMed,gnomAD
rs749061719	p.Arg668Leu	missense variant	-	NC_000007.14:g.129212090G>T	ExAC,TOPMed,gnomAD
rs749061719	p.Arg668His	missense variant	-	NC_000007.14:g.129212090G>A	ExAC,TOPMed,gnomAD
rs1187937880	p.Gly670Arg	missense variant	-	NC_000007.14:g.129212095G>C	TOPMed
rs768907770	p.Arg671Trp	missense variant	-	NC_000007.14:g.129212098C>T	ExAC,TOPMed,gnomAD
rs768907770	p.Arg671Gly	missense variant	-	NC_000007.14:g.129212098C>G	ExAC,TOPMed,gnomAD
rs573599556	p.Arg671Gln	missense variant	-	NC_000007.14:g.129212099G>A	1000Genomes,ExAC,TOPMed
NCI-TCGA novel	p.Lys672Asn	missense variant	-	NC_000007.14:g.129212103G>T	NCI-TCGA
rs1378364507	p.Lys672Arg	missense variant	-	NC_000007.14:g.129212102A>G	gnomAD
rs1239483829	p.Lys673Glu	missense variant	-	NC_000007.14:g.129212104A>G	gnomAD
rs749196262	p.Lys673Asn	missense variant	-	NC_000007.14:g.129212106G>T	ExAC,gnomAD
rs1289445585	p.Lys674Asn	missense variant	-	NC_000007.14:g.129212109G>C	gnomAD
rs1358600043	p.Lys674Glu	missense variant	-	NC_000007.14:g.129212107A>G	gnomAD
rs1466921386	p.Arg675Lys	missense variant	-	NC_000007.14:g.129212111G>A	TOPMed,gnomAD
rs1238699461	p.Arg676Ser	missense variant	-	NC_000007.14:g.129212115G>T	gnomAD
rs761036817	p.Lys677Glu	missense variant	-	NC_000007.14:g.129212116A>G	ExAC,TOPMed,gnomAD
rs1369656559	p.Lys679Glu	missense variant	-	NC_000007.14:g.129212122A>G	gnomAD
rs375368180	p.Glu681Ala	missense variant	-	NC_000007.14:g.129212129A>C	ESP,ExAC,TOPMed,gnomAD
rs777173215	p.Pro684Leu	missense variant	-	NC_000007.14:g.129212138C>T	ExAC,gnomAD
rs1446646756	p.Ala686Ser	missense variant	-	NC_000007.14:g.129212143G>T	TOPMed,gnomAD
rs587778688	p.Ala686Val	missense variant	-	NC_000007.14:g.129212144C>T	ExAC,TOPMed,gnomAD
RCV000122438	p.Ala686Val	missense variant	-	NC_000007.14:g.129212144C>T	ClinVar
rs55722779	p.Pro687Leu	missense variant	-	NC_000007.14:g.129212147C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1245615022	p.Pro687Ser	missense variant	-	NC_000007.14:g.129212146C>T	gnomAD
RCV000122073	p.Pro687Leu	missense variant	-	NC_000007.14:g.129212147C>T	ClinVar
rs1333040161	p.Pro688Ser	missense variant	-	NC_000007.14:g.129212149C>T	gnomAD
rs1200280970	p.Pro689Thr	missense variant	-	NC_000007.14:g.129212152C>A	gnomAD
rs750399871	p.Pro689His	missense variant	-	NC_000007.14:g.129212153C>A	ExAC,gnomAD
rs1200280970	p.Pro689Ser	missense variant	-	NC_000007.14:g.129212152C>T	gnomAD
rs202060649	p.Leu691Pro	missense variant	-	NC_000007.14:g.129212159T>C	1000Genomes,gnomAD
rs970650050	p.His692Arg	missense variant	-	NC_000007.14:g.129212162A>G	TOPMed
rs56346729	p.Pro693Ser	missense variant	-	NC_000007.14:g.129212164C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753700381	p.Pro694Arg	missense variant	-	NC_000007.14:g.129212168C>G	ExAC,TOPMed,gnomAD
COSM172128	p.Pro694LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.129212163C>-	NCI-TCGA Cosmic
rs1478619026	p.Ala695Thr	missense variant	-	NC_000007.14:g.129212170G>A	gnomAD
rs1170987549	p.Pro696Ser	missense variant	-	NC_000007.14:g.129212173C>T	gnomAD
NCI-TCGA novel	p.Pro696Thr	missense variant	-	NC_000007.14:g.129212173C>A	NCI-TCGA
rs779110649	p.Ala697Gly	missense variant	-	NC_000007.14:g.129212177C>G	ExAC,gnomAD
RCV000122074	p.Pro698Arg	missense variant	-	NC_000007.14:g.129212180C>G	ClinVar
rs116640950	p.Pro698Arg	missense variant	-	NC_000007.14:g.129212180C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116640950	p.Pro698Leu	missense variant	-	NC_000007.14:g.129212180C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296884561	p.Ser699Arg	missense variant	-	NC_000007.14:g.129212182A>C	gnomAD
COSM484811	p.Ser699Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129212184T>G	NCI-TCGA Cosmic
rs1405069150	p.Thr700Ala	missense variant	-	NC_000007.14:g.129212185A>G	gnomAD
rs761586263	p.Arg703Pro	missense variant	-	NC_000007.14:g.129212195G>C	ExAC,TOPMed,gnomAD
rs777762925	p.Arg703Gly	missense variant	-	NC_000007.14:g.129212194C>G	ExAC,TOPMed,gnomAD
rs777762925	p.Arg703Ter	stop gained	-	NC_000007.14:g.129212194C>T	ExAC,TOPMed,gnomAD
rs761586263	p.Arg703Gln	missense variant	-	NC_000007.14:g.129212195G>A	ExAC,TOPMed,gnomAD
rs957669971	p.Leu707Met	missense variant	-	NC_000007.14:g.129212206C>A	TOPMed,gnomAD
rs777261235	p.Pro708Leu	missense variant	-	NC_000007.14:g.129212210C>T	ExAC,TOPMed,gnomAD
rs777261235	p.Pro708His	missense variant	-	NC_000007.14:g.129212210C>A	ExAC,TOPMed,gnomAD
rs369342481	p.Arg709Gln	missense variant	-	NC_000007.14:g.129212213G>A	ESP,ExAC,TOPMed,gnomAD
rs759996530	p.Arg709Trp	missense variant	-	NC_000007.14:g.129212212C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln710His	missense variant	-	NC_000007.14:g.129212217G>T	NCI-TCGA
rs774086868	p.Cys712Arg	missense variant	-	NC_000007.14:g.129212221T>C	ExAC,gnomAD
rs767178507	p.Ala716Glu	missense variant	-	NC_000007.14:g.129212234C>A	ExAC,TOPMed,gnomAD
rs1193857587	p.Gly717Asp	missense variant	-	NC_000007.14:g.129212237G>A	gnomAD
rs772640174	p.Gly717Cys	missense variant	-	NC_000007.14:g.129212236G>T	ExAC,TOPMed,gnomAD
rs1327533871	p.Trp719Ter	stop gained	-	NC_000007.14:g.129212243G>A	gnomAD
rs1262023810	p.Gly720Glu	missense variant	-	NC_000007.14:g.129212246G>A	TOPMed,gnomAD
rs760228898	p.Gly722Glu	missense variant	-	NC_000007.14:g.129212252G>A	ExAC,gnomAD
rs1168853400	p.Asp723Tyr	missense variant	-	NC_000007.14:g.129212254G>T	gnomAD
rs766361793	p.Asp723Val	missense variant	-	NC_000007.14:g.129212255A>T	ExAC,TOPMed,gnomAD
rs1467038854	p.Ser724Pro	missense variant	-	NC_000007.14:g.129212257T>C	gnomAD
rs1373663022	p.Cys725Trp	missense variant	-	NC_000007.14:g.129212262C>G	TOPMed,gnomAD
rs142495470	p.Arg726Gln	missense variant	-	NC_000007.14:g.129212264G>A	ESP,ExAC,TOPMed,gnomAD
rs372847405	p.Arg726Ter	stop gained	-	NC_000007.14:g.129212263C>T	ESP,ExAC,TOPMed,gnomAD
rs372847405	p.Arg726Gly	missense variant	-	NC_000007.14:g.129212263C>G	ESP,ExAC,TOPMed,gnomAD
RCV000122077	p.Arg726Gln	missense variant	-	NC_000007.14:g.129212264G>A	ClinVar
rs1361595595	p.Gln727Ter	stop gained	-	NC_000007.14:g.129212266C>T	gnomAD
rs758584897	p.Gly728Ala	missense variant	-	NC_000007.14:g.129212270G>C	ExAC,gnomAD
rs758584897	p.Gly728Glu	missense variant	-	NC_000007.14:g.129212270G>A	ExAC,gnomAD
rs150924833	p.Ala729Ser	missense variant	-	NC_000007.14:g.129212272G>T	ESP,ExAC,gnomAD
rs200751953	p.Ala729Val	missense variant	-	NC_000007.14:g.129212273C>T	1000Genomes,ExAC
rs150924833	p.Ala729Thr	missense variant	-	NC_000007.14:g.129212272G>A	ESP,ExAC,gnomAD
rs1168512964	p.Thr731Ile	missense variant	-	NC_000007.14:g.129212279C>T	TOPMed
NCI-TCGA novel	p.Val733Phe	missense variant	-	NC_000007.14:g.129212284G>T	NCI-TCGA
rs1179087143	p.Ser734Phe	missense variant	-	NC_000007.14:g.129212288C>T	TOPMed
rs372475450	p.Asn735Ser	missense variant	-	NC_000007.14:g.129212291A>G	ESP,ExAC,TOPMed,gnomAD
rs372475450	p.Asn735Thr	missense variant	-	NC_000007.14:g.129212291A>C	ESP,ExAC,TOPMed,gnomAD
rs771690738	p.Pro736Thr	missense variant	-	NC_000007.14:g.129212293C>A	ExAC,gnomAD
rs772906733	p.Pro736Leu	missense variant	-	NC_000007.14:g.129212294C>T	ExAC,gnomAD
rs1269862863	p.Cys738Phe	missense variant	-	NC_000007.14:g.129212300G>T	gnomAD
NCI-TCGA novel	p.Pro739Ser	missense variant	-	NC_000007.14:g.129212302C>T	NCI-TCGA
rs1193502171	p.Pro741Leu	missense variant	-	NC_000007.14:g.129212309C>T	gnomAD
rs112783338	p.Pro743Ser	missense variant	-	NC_000007.14:g.129212314C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs112783338	p.Pro743Thr	missense variant	-	NC_000007.14:g.129212314C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000122075	p.Pro743Thr	missense variant	-	NC_000007.14:g.129212314C>A	ClinVar
rs752497829	p.Pro744His	missense variant	-	NC_000007.14:g.129212318C>A	ExAC,gnomAD
rs141955434	p.Pro744Ser	missense variant	-	NC_000007.14:g.129212317C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs141955434	p.Pro744Thr	missense variant	-	NC_000007.14:g.129212317C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs377501107	p.Gln745Arg	missense variant	-	NC_000007.14:g.129212321A>G	ESP,ExAC,TOPMed,gnomAD
rs377092430	p.Ser751Asn	missense variant	-	NC_000007.14:g.129212339G>A	ESP,ExAC,TOPMed,gnomAD
rs1439900357	p.Ala752Thr	missense variant	-	NC_000007.14:g.129212341G>A	TOPMed,gnomAD
rs202241524	p.Pro753Leu	missense variant	-	NC_000007.14:g.129212345C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1085448	p.Ala754Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129212347G>A	NCI-TCGA Cosmic
rs745924040	p.Pro755Thr	missense variant	-	NC_000007.14:g.129212350C>A	ExAC,gnomAD
rs147090883	p.Val756Leu	missense variant	-	NC_000007.14:g.129212353G>T	ESP,ExAC,TOPMed,gnomAD
rs147090883	p.Val756Met	missense variant	-	NC_000007.14:g.129212353G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala757Val	missense variant	-	NC_000007.14:g.129212357C>T	NCI-TCGA
NCI-TCGA novel	p.Trp758Arg	missense variant	-	NC_000007.14:g.129212359T>A	NCI-TCGA
rs1024824800	p.Trp758Arg	missense variant	-	NC_000007.14:g.129212359T>C	TOPMed
rs1488974485	p.Ala759Ser	missense variant	-	NC_000007.14:g.129212362G>T	gnomAD
rs769008401	p.Ala759Val	missense variant	-	NC_000007.14:g.129212363C>T	ExAC,gnomAD
rs1251652684	p.His760Tyr	missense variant	-	NC_000007.14:g.129212365C>T	TOPMed,gnomAD
rs772769239	p.His760Pro	missense variant	-	NC_000007.14:g.129212366A>C	ExAC,gnomAD
rs772769239	p.His760Arg	missense variant	-	NC_000007.14:g.129212366A>G	ExAC,gnomAD
rs376280244	p.Arg762His	missense variant	-	NC_000007.14:g.129212372G>A	ESP,ExAC,TOPMed,gnomAD
rs905977339	p.Arg762Cys	missense variant	-	NC_000007.14:g.129212371C>T	TOPMed,gnomAD
rs1167098287	p.Arg763Gln	missense variant	-	NC_000007.14:g.129212375G>A	gnomAD
rs765830913	p.Arg763Ter	stop gained	-	NC_000007.14:g.129212374C>T	ExAC,TOPMed,gnomAD
rs1350752913	p.Gly765Ser	missense variant	-	NC_000007.14:g.129212380G>A	gnomAD
rs776156624	p.Gly765Val	missense variant	-	NC_000007.14:g.129212381G>T	ExAC,gnomAD
COSM452323	p.Pro768Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129212389C>T	NCI-TCGA Cosmic
rs769675703	p.Ile769Leu	missense variant	-	NC_000007.14:g.129212392A>C	ExAC,gnomAD
rs1471453753	p.Ser771Phe	missense variant	-	NC_000007.14:g.129212399C>T	TOPMed
rs149170801	p.Arg772Leu	missense variant	-	NC_000007.14:g.129212402G>T	ESP,ExAC,gnomAD
RCV000122076	p.Arg772Cys	missense variant	-	NC_000007.14:g.129212401C>T	ClinVar
rs149170801	p.Arg772His	missense variant	-	NC_000007.14:g.129212402G>A	ESP,ExAC,gnomAD
rs140172891	p.Arg772Gly	missense variant	-	NC_000007.14:g.129212401C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140172891	p.Arg772Cys	missense variant	-	NC_000007.14:g.129212401C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762178062	p.Asn774Ser	missense variant	-	NC_000007.14:g.129212408A>G	ExAC,TOPMed,gnomAD
rs767820047	p.Met776Val	missense variant	-	NC_000007.14:g.129212413A>G	ExAC,TOPMed,gnomAD
rs750599703	p.Asp777Asn	missense variant	-	NC_000007.14:g.129212416G>A	ExAC,gnomAD
rs756252266	p.Thr778Ile	missense variant	-	NC_000007.14:g.129212420C>T	ExAC,gnomAD
rs989068282	p.Thr778Ala	missense variant	-	NC_000007.14:g.129212419A>G	TOPMed,gnomAD
rs780439187	p.Glu779Ala	missense variant	-	NC_000007.14:g.129212423A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu780Arg	missense variant	-	NC_000007.14:g.129212426T>G	NCI-TCGA
rs1183728706	p.Leu780Phe	missense variant	-	NC_000007.14:g.129212425C>T	gnomAD
rs755320310	p.Met781Thr	missense variant	-	NC_000007.14:g.129212429T>C	ExAC,TOPMed,gnomAD
rs1461447618	p.Met781Val	missense variant	-	NC_000007.14:g.129212428A>G	TOPMed
rs587778689	p.Asp782Asn	missense variant	-	NC_000007.14:g.129212431G>A	-
RCV000122078	p.Asp782Asn	missense variant	-	NC_000007.14:g.129212431G>A	ClinVar
rs1475027326	p.Ala783Val	missense variant	-	NC_000007.14:g.129212435C>T	gnomAD
rs1425442829	p.Ser785Leu	missense variant	-	NC_000007.14:g.129212441C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Phe787Leu	missense variant	-	NC_000007.14:g.129212448C>G	NCI-TCGA
rs748479148	p.Phe787Leu	missense variant	-	NC_000007.14:g.129212448C>A	ExAC,gnomAD
rs1352762329	p.Ter788Arg	stop lost	-	NC_000007.14:g.129212449T>C	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0002448	Ameloblastoma	disease	BEFREE;CTD_human
C0004779	Basal Cell Nevus Syndrome	disease	BEFREE
C0005744	Blepharophimosis	disease	HPO
C0006118	Brain Neoplasms	group	CTD_human
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	BEFREE
C0007113	Rectal Carcinoma	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	CTD_human
C0007117	Basal cell carcinoma	disease	CGI;CLINVAR;CTD_human;HPO;LHGDN;UNIPROT
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008479	Chondrosarcoma	disease	LHGDN
C0009324	Ulcerative Colitis	disease	BEFREE
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND;HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010278	Craniosynostosis	disease	GENOMICS_ENGLAND;HPO
C0014868	Esophagitis	disease	BEFREE
C0017152	Gastritis	disease	BEFREE
C0020456	Hyperglycemia	disease	LHGDN
C0020534	Orbital separation excessive	phenotype	HPO
C0021361	Female infertility	phenotype	CTD_human
C0022360	Jaw Abnormalities	group	CTD_human
C0023487	Acute Promyelocytic Leukemia	disease	CTD_human
C0024121	Lung Neoplasms	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0024954	Maxillary Neoplasms	group	CTD_human
C0025149	Medulloblastoma	disease	BEFREE;CGI;CLINVAR;MGD
C0025286	Meningioma	disease	BEFREE;CTD_human
C0025362	Mental Retardation	disease	HPO
C0025500	Mesothelioma	disease	BEFREE
C0026010	Microphthalmos	disease	HPO
C0028840	Ocular Hypertension	disease	RGD
C0028880	Odontogenic Tumors	group	BEFREE;LHGDN
C0029463	Osteosarcoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	BEFREE
C0030305	Pancreatitis	disease	RGD
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0037268	Skin Abnormalities	group	HPO
C0037274	Dermatologic disorders	group	HPO
C0037286	Skin Neoplasms	group	CTD_human
C0038279	Sterility, Postpartum	phenotype	CTD_human
C0038356	Stomach Neoplasms	group	BEFREE
C0043346	Xeroderma Pigmentosum	disease	LHGDN
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0085136	Central Nervous System Neoplasms	group	BEFREE
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0153633	Malignant neoplasm of brain	disease	CTD_human
C0158734	Polydactyly of toes	disease	HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0205834	Meningiomas, Multiple	disease	CTD_human
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE
C0206663	Neuroectodermal Tumor, Primitive	disease	BEFREE;CTD_human;MGD
C0221352	Syndactyly of fingers	disease	HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0259785	Malignant Meningioma	disease	CTD_human
C0262374	Stricture of anus	phenotype	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0270824	Visual seizure	disease	RGD
C0281784	Benign Meningioma	disease	CTD_human
C0334584	Spongioblastoma	disease	CTD_human
C0334596	Medulloepithelioma	disease	CTD_human
C0334605	Meningothelial meningioma	disease	CTD_human
C0334606	Fibrous Meningioma	disease	CTD_human
C0334607	Psammomatous Meningioma	disease	CTD_human
C0334608	Angiomatous Meningioma	disease	CTD_human
C0334609	Hemangioblastic Meningioma	disease	CTD_human
C0334610	Hemangiopericytic Meningioma	disease	CTD_human
C0334611	Transitional Meningioma	disease	CTD_human
C0341869	Subfertility, Female	disease	CTD_human
C0345967	Malignant mesothelioma	disease	BEFREE
C0347515	Spinal Meningioma	disease	CTD_human
C0349604	Intracranial Meningioma	disease	CTD_human
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0426891	Broad thumbs	phenotype	HPO
C0431121	Clear Cell Meningioma	disease	CTD_human
C0457190	Xanthomatous Meningioma	disease	CTD_human
C0496899	Benign neoplasm of brain, unspecified	disease	CTD_human
C0557874	Global developmental delay	disease	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700367	Ependymoblastoma	disease	CTD_human
C0740392	Infarction, Middle Cerebral Artery	disease	RGD
C0750974	Brain Tumor, Primary	disease	CTD_human
C0750977	Recurrent Brain Neoplasm	disease	CTD_human
C0750979	Primary malignant neoplasm of brain	disease	CTD_human
C0751291	Desmoplastic Medulloblastoma	disease	BEFREE
C0751303	Cerebral Convexity Meningioma	disease	CTD_human
C0751304	Parasagittal Meningioma	disease	CTD_human
C0751675	Cerebral Primitive Neuroectodermal Tumor	disease	CTD_human
C0751676	Basal Cell Cancer	disease	BEFREE
C0795915	Winter Shortland Temple syndrome	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C0867389	Chronic graft-versus-host disease	disease	BEFREE
C0917730	Female sterility	phenotype	CTD_human
C0917816	Mental deficiency	disease	HPO
C1275122	Familial multiple trichoepitheliomata	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306710	Facial asymmetry	phenotype	HPO
C1334261	Intraorbital Meningioma	disease	CTD_human
C1334271	Intraventricular Meningioma	disease	CTD_human
C1334410	Localized Primitive Neuroectodermal Tumor	disease	MGD
C1335107	Olfactory Groove Meningioma	disease	BEFREE;CTD_human
C1368275	Pigmented Basal Cell Carcinoma	disease	CTD_human
C1384406	Secretory meningioma	disease	CTD_human
C1384408	Microcystic meningioma	disease	CTD_human
C1395852	Polydactyly preaxial type 1	disease	HPO
C1527197	Angioblastic Meningioma	disease	CTD_human
C1527249	Colorectal Cancer	disease	BEFREE
C1527390	Neoplasms, Intracranial	group	CTD_human
C1565950	Posterior Fossa Meningioma	disease	CTD_human
C1565951	Sphenoid Wing Meningioma	disease	CTD_human
C1654637	androgen independent prostate cancer	disease	BEFREE
C1836735	hypopigmented skin patch	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1849211	Generalized hirsutism	phenotype	HPO
C1862314	Basal cell nevus	disease	BEFREE;HPO
C1864897	Cognitive delay	phenotype	HPO
C1866227	Somatic mosaicism	phenotype	HPO
C1955869	Malformations of Cortical Development	group	GENOMICS_ENGLAND
C2239176	Liver carcinoma	disease	BEFREE
C3163622	Papillary Meningioma	disease	CTD_human
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3838465	BASAL CELL CARCINOMA, SOMATIC	disease	CLINVAR
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021254	Cutaneous finger syndactyly	disease	HPO
C4024737	Aplasia/Hypoplasia of the skin	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004930	G protein-coupled receptor activity	IEA
GO:0005113	patched binding	IBA
GO:0005113	patched binding	IPI
GO:0005515	protein binding	IPI
GO:0008144	drug binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0001570	vasculogenesis	IEA
GO:0001649	osteoblast differentiation	IEA
GO:0001701	in utero embryonic development	IEA
GO:0001708	cell fate specification	IEA
GO:0001755	neural crest cell migration	IEA
GO:0001947	heart looping	ISS
GO:0002052	positive regulation of neuroblast proliferation	IEA
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA
GO:0003140	determination of left/right asymmetry in lateral mesoderm	ISS
GO:0003323	type B pancreatic cell development	IEA
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0007224	smoothened signaling pathway	IEP
GO:0007224	smoothened signaling pathway	IMP
GO:0007224	smoothened signaling pathway	IBA
GO:0007228	positive regulation of hh target transcription factor activity	ISS
GO:0007371	ventral midline determination	ISS
GO:0007417	central nervous system development	IBA
GO:0007494	midgut development	ISS
GO:0009952	anterior/posterior pattern specification	IEA
GO:0010628	positive regulation of gene expression	ISS
GO:0010628	positive regulation of gene expression	IMP
GO:0010629	negative regulation of gene expression	ISS
GO:0021542	dentate gyrus development	IEA
GO:0021696	cerebellar cortex morphogenesis	IEA
GO:0021794	thalamus development	IEA
GO:0021904	dorsal/ventral neural tube patterning	IEA
GO:0021910	smoothened signaling pathway involved in ventral spinal cord patterning	IEA
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA
GO:0021953	central nervous system neuron differentiation	IEA
GO:0021987	cerebral cortex development	IEA
GO:0030335	positive regulation of cell migration	IMP
GO:0030857	negative regulation of epithelial cell differentiation	IEA
GO:0031069	hair follicle morphogenesis	IEA
GO:0034504	protein localization to nucleus	IEA
GO:0035264	multicellular organism growth	IEA
GO:0040018	positive regulation of multicellular organism growth	IEA
GO:0042307	positive regulation of protein import into nucleus	IEA
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0043066	negative regulation of apoptotic process	IEA
GO:0043392	negative regulation of DNA binding	ISS
GO:0045880	positive regulation of smoothened signaling pathway	IBA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0046622	positive regulation of organ growth	IEA
GO:0048143	astrocyte activation	IEA
GO:0048741	skeletal muscle fiber development	IEA
GO:0048745	smooth muscle tissue development	IEP
GO:0048853	forebrain morphogenesis	ISS
GO:0048873	homeostasis of number of cells within a tissue	IEA
GO:0050679	positive regulation of epithelial cell proliferation	IEA
GO:0050821	protein stabilization	IEA
GO:0051451	myoblast migration	IEA
GO:0051799	negative regulation of hair follicle development	IEA
GO:0060242	contact inhibition	IMP
GO:0060413	atrial septum morphogenesis	IEA
GO:0060644	mammary gland epithelial cell differentiation	IEA
GO:0060684	epithelial-mesenchymal cell signaling	IEA
GO:0061053	somite development	ISS
GO:0061113	pancreas morphogenesis	IEA
GO:0070986	left/right axis specification	IEA
GO:0071397	cellular response to cholesterol	ISS
GO:0071679	commissural neuron axon guidance	IBA
GO:0072285	mesenchymal to epithelial transition involved in metanephric renal vesicle formation	ISS
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:2000036	regulation of stem cell population maintenance	IEA
GO:2000826	regulation of heart morphogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005929	cilium	ISS
GO:0005929	cilium	IBA
GO:0005929	cilium	TAS
GO:0016021	integral component of membrane	IBA
GO:0030425	dendrite	IBA
GO:0030666	endocytic vesicle membrane	TAS
GO:0043231	intracellular membrane-bounded organelle	IDA
GO:0060170	ciliary membrane	TAS
GO:0070062	extracellular exosome	HDA
GO:0097542	ciliary tip	TAS
GO:0005794	Golgi apparatus	IDA
GO:0005901	caveola	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-500792	GPCR ligand binding	IEA
R-HSA-5358351	Signaling by Hedgehog	IEA
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620920	Cargo trafficking to the periciliary membrane	TAS
R-HSA-5620922	BBSome-mediated cargo-targeting to cilium	TAS
R-HSA-5632684	Hedgehog 'on' state	IEA
R-HSA-5632684	Hedgehog 'on' state	TAS
R-HSA-5635838	Activation of SMO	IEA
R-HSA-5635838	Activation of SMO	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in increased expression of SMO mRNA	17187413
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 decreased expression of SMO mRNA	27188386
C555021	4-acetylantroquinonol B	4-acetylantroquinonol B results in decreased expression of SMO mRNA	26235807
C496492	abrine	abrine results in decreased expression of SMO mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of SMO mRNA	17562736
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of SMO mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SMO mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of SMO mRNA	25378103
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SMO mRNA	16483693
D000728	Androgens	[mono-(2-ethylhexyl)phthalate co-treated with Androgens deficiency] results in increased expression of SMO mRNA	26710974
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased activity of SMO protein mutant form	24859340
D000077237	Arsenic Trioxide	Arsenic Trioxide binds to and results in decreased activity of SMO protein	24094913
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of SMO mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SMO mRNA	26238291
C006780	bisphenol A	bisphenol A results in decreased expression of SMO mRNA	23557687
C006780	bisphenol A	bisphenol A affects the expression of SMO mRNA	30903817
C006780	bisphenol A	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of SMO promoter	23359474
C006780	bisphenol A	bisphenol A results in decreased expression of SMO mRNA	25181051
C028031	cadmium acetate	cadmium acetate results in decreased expression of SMO mRNA	23124188
C028031	cadmium acetate	cadmium acetate results in decreased expression of SMO protein	23124188
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of SMO mRNA	27590029
D002251	Carbon Tetrachloride	Colforsin inhibits the reaction [Carbon Tetrachloride results in increased expression of SMO mRNA]	27590029
D016190	Carboplatin	Carboplatin results in increased expression of SMO mRNA	25605917
D002762	Cholecalciferol	Cholecalciferol results in increased expression of SMO mRNA	17170073
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SMO gene	20938992
D002945	Cisplatin	Cisplatin promotes the reaction [jinfukang results in increased expression of SMO mRNA]	27392435
D002945	Cisplatin	Cisplatin results in increased expression of SMO mRNA	27392435
D002945	Cisplatin	jinfukang promotes the reaction [Cisplatin results in increased expression of SMO mRNA]	27392435
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of SMO mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SMO mRNA]	17585979
D005576	Colforsin	Colforsin inhibits the reaction [Carbon Tetrachloride results in increased expression of SMO mRNA]	27590029
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SMO mRNA	19549813
D003471	Cuprizone	Cuprizone results in increased expression of SMO mRNA	26577399
C000541	cyclopamine	cyclopamine results in increased expression of SMO mRNA	26710974
C000541	cyclopamine	mono-(2-ethylhexyl)phthalate inhibits the reaction [cyclopamine results in increased expression of SMO mRNA]	26710974
C000541	cyclopamine	cyclopamine inhibits the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of SMO protein]	27481074
C000541	cyclopamine	cyclopamine inhibits the reaction [Resveratrol results in increased expression of SMO protein]	24464877
C000541	cyclopamine	cyclopamine inhibits the reaction [Sodium Fluoride results in increased expression of SMO mRNA]	24388991
C000541	cyclopamine	cyclopamine inhibits the reaction [Sodium Fluoride results in increased expression of SMO protein]	24388991
C000541	cyclopamine	cyclopamine binds to SMO protein	22552772
C000541	cyclopamine	cyclopamine inhibits the reaction [SHH protein results in increased expression of SMO mRNA]	22552772
C000541	cyclopamine	cyclopamine inhibits the reaction [SMO protein binds to ARRB2 protein]	22552772
C000541	cyclopamine	cyclopamine inhibits the reaction [SMO protein results in increased expression of GLI1 mRNA]	22552772
C000541	cyclopamine	cyclopamine results in decreased activity of and affects the folding of SMO protein	22265815
C000541	cyclopamine	cyclopamine results in decreased activity of SMO protein	22552772
C000541	cyclopamine	Piperonyl Butoxide inhibits the reaction [cyclopamine binds to SMO protein]	22552772
D003907	Dexamethasone	Dexamethasone results in decreased expression of SMO mRNA	25047013
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of SMO mRNA	29950665
D003993	Dibutyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of SMO promoter	23359474
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of SMO mRNA	21266533
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of SMO mRNA	28123099
D004051	Diethylhexyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of SMO promoter	23359474
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of SMO mRNA	27058323
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of SMO protein	27058323
D004052	Diethylnitrosamine	epigallocatechin gallate inhibits the reaction [Diethylnitrosamine results in increased expression of SMO mRNA]	27058323
D004052	Diethylnitrosamine	epigallocatechin gallate inhibits the reaction [Diethylnitrosamine results in increased expression of SMO protein]	27058323
D004052	Diethylnitrosamine	theaflavin inhibits the reaction [Diethylnitrosamine results in increased expression of SMO mRNA]	27058323
D004052	Diethylnitrosamine	theaflavin inhibits the reaction [Diethylnitrosamine results in increased expression of SMO protein]	27058323
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of SMO mRNA	22467019
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 decreased expression of SMO mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of SMO mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of SMO mRNA	29391264
C045651	epigallocatechin gallate	epigallocatechin gallate inhibits the reaction [Diethylnitrosamine results in increased expression of SMO mRNA]	27058323
C045651	epigallocatechin gallate	epigallocatechin gallate inhibits the reaction [Diethylnitrosamine results in increased expression of SMO protein]	27058323
D004958	Estradiol	Estradiol affects the expression of SMO mRNA	23557687
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of SMO gene	15755804; 16724327;
D017313	Fenretinide	Fenretinide results in decreased expression of SMO mRNA	28973697
D005472	Fluorouracil	Fluorouracil results in decreased expression of SMO mRNA	18776995; 25190613;
D005472	Fluorouracil	Fluorouracil results in decreased expression of SMO protein	25190613
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SMO gene	20938992
C551027	GANT 61	GANT 61 inhibits the reaction [AGT protein results in increased expression of SMO protein]	31181250
C551027	GANT 61	GANT 61 binds to and results in decreased activity of SMO protein	24094913
C056507	gemcitabine	gemcitabine results in increased expression of SMO mRNA	25605917
D005947	Glucose	cyclopamine inhibits the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of SMO protein]	27481074
D005947	Glucose	[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of SMO protein	27481074
D005947	Glucose	SHH protein affects the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of SMO protein]	27481074
C058504	goralatide	goralatide inhibits the reaction [AGT protein results in increased expression of SMO protein]	31181250
C058504	goralatide	goralatide inhibits the reaction [Silicon Dioxide results in increased expression of SMO protein]	31181250
C538724	HhAntag691	HhAntag691 results in decreased expression of SMO mRNA	22087285
C538724	HhAntag691	SMO protein mutant form results in decreased susceptibility to HhAntag691	24973920
C538724	HhAntag691	HhAntag691 results in decreased activity of SMO protein	22087285
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of SMO mRNA	17183730
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of SMO mRNA	31326407
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of SMO protein	31326407
D006861	Hydrogen Peroxide	hyperoside promotes the reaction [Hydrogen Peroxide results in increased expression of SMO mRNA]	31326407
D006861	Hydrogen Peroxide	hyperoside promotes the reaction [Hydrogen Peroxide results in increased expression of SMO protein]	31326407
C021304	hyperoside	hyperoside promotes the reaction [Hydrogen Peroxide results in increased expression of SMO mRNA]	31326407
C021304	hyperoside	hyperoside promotes the reaction [Hydrogen Peroxide results in increased expression of SMO protein]	31326407
C021304	hyperoside	hyperoside results in increased expression of SMO mRNA	31326407
C021304	hyperoside	hyperoside results in increased expression of SMO protein	31326407
D017964	Itraconazole	Itraconazole binds to and results in decreased activity of SMO protein	24094913
C544151	jinfukang	Cisplatin promotes the reaction [jinfukang results in increased expression of SMO mRNA]	27392435
C544151	jinfukang	jinfukang promotes the reaction [Cisplatin results in increased expression of SMO mRNA]	27392435
C544151	jinfukang	jinfukang results in increased expression of SMO mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of SMO mRNA]	24973920
D000077339	Leflunomide	Leflunomide results in decreased expression of SMO mRNA	28988120
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of SMO mRNA	20353558
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SMO gene	20938992
D008727	Methotrexate	Methotrexate affects the expression of SMO mRNA	18502557
C016599	mono-(2-ethylhexyl)phthalate	[mono-(2-ethylhexyl)phthalate co-treated with Androgens deficiency] results in increased expression of SMO mRNA	26710974
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate inhibits the reaction [cyclopamine results in increased expression of SMO mRNA]	26710974
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SMO mRNA	25554681
C000621033	napabucasin	napabucasin results in decreased expression of SMO mRNA	25605917
D009534	Niclosamide	Niclosamide results in decreased expression of SMO mRNA	31398420
C572573	N-nitroso-tris-chloroethylurea	N-nitroso-tris-chloroethylurea results in increased mutagenesis of SMO gene	29484121
D010100	Oxygen	cyclopamine inhibits the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of SMO protein]	27481074
D010100	Oxygen	[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of SMO protein	27481074
D010100	Oxygen	SHH protein affects the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of SMO protein]	27481074
D010634	Phenobarbital	Phenobarbital affects the expression of SMO mRNA	19159669
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of SMO mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in decreased expression of SMO mRNA	19482888
D010882	Piperonyl Butoxide	Piperonyl Butoxide inhibits the reaction [cyclopamine binds to SMO protein]	22552772
D010882	Piperonyl Butoxide	Piperonyl Butoxide inhibits the reaction [SHH protein results in increased expression of SMO mRNA]	22552772
D010882	Piperonyl Butoxide	Piperonyl Butoxide inhibits the reaction [SMO protein binds to ARRB2 protein]	22552772
D010882	Piperonyl Butoxide	Piperonyl Butoxide inhibits the reaction [SMO protein results in increased expression of GLI1 mRNA]	22552772
D010882	Piperonyl Butoxide	Piperonyl Butoxide results in decreased activity of SMO protein	22552772
C006253	pirinixic acid	pirinixic acid results in increased expression of SMO mRNA	17950772; 23811191;
C006253	pirinixic acid	PPARA protein promotes the reaction [pirinixic acid results in increased expression of SMO mRNA]	17950772
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of SMO mRNA	22714537
C470893	purmorphamine	purmorphamine binds to and results in increased activity of SMO protein	22397755
D000077185	Resveratrol	Resveratrol results in decreased expression of SMO	22301921
D000077185	Resveratrol	Resveratrol results in decreased expression of SMO mRNA	25190613
D000077185	Resveratrol	Resveratrol results in decreased expression of SMO protein	22397755; 25190613;
D000077185	Resveratrol	cyclopamine inhibits the reaction [Resveratrol results in increased expression of SMO protein]	24464877
D000077185	Resveratrol	Resveratrol results in increased expression of and affects the localization of SMO protein	24464877
C468918	SAG compound	SAG compound results in increased expression of and affects the localization of SMO protein	24464877
C010327	salinomycin	salinomycin results in decreased expression of SMO mRNA	25499043
C010327	salinomycin	salinomycin results in decreased expression of SMO protein	25499043; 30273566;
C468920	SANT-2 compound	SANT-2 compound binds to and results in decreased activity of SMO protein	22265815
D012822	Silicon Dioxide	AGT protein modified form inhibits the reaction [Silicon Dioxide results in increased expression of SMO protein]	31181250
D012822	Silicon Dioxide	goralatide inhibits the reaction [Silicon Dioxide results in increased expression of SMO protein]	31181250
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of SMO protein	31181250
D018030	Silver Compounds	Silver Compounds results in increased expression of SMO mRNA	29703973
D012969	Sodium Fluoride	cyclopamine inhibits the reaction [Sodium Fluoride results in increased expression of SMO mRNA]	24388991
D012969	Sodium Fluoride	cyclopamine inhibits the reaction [Sodium Fluoride results in increased expression of SMO protein]	24388991
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of SMO mRNA	24388991
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of SMO protein	24388991
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of SMO mRNA	18175754
C561435	sonidegib	SMO protein mutant form results in decreased susceptibility to sonidegib	24973920
D000077210	Sunitinib	Sunitinib results in decreased expression of SMO mRNA	31533062
D000077210	Sunitinib	Sunitinib results in increased expression of SMO mRNA	25605917
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SMO mRNA	21570461; 28922406;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SMO mRNA	17586704
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SMO mRNA	22298810
C056068	theaflavin	theaflavin inhibits the reaction [Diethylnitrosamine results in increased expression of SMO mRNA]	27058323
C056068	theaflavin	theaflavin inhibits the reaction [Diethylnitrosamine results in increased expression of SMO protein]	27058323
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of SMO mRNA	29950665
C012589	trichostatin A	trichostatin A results in decreased expression of SMO mRNA	15901671
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of SMO mRNA	26179874
D014635	Valproic Acid	Valproic Acid results in decreased expression of SMO mRNA	15901671
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of SMO mRNA	17183730
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 decreased expression of SMO mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of SMO mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of SMO mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of SMO gene	29154799
D014638	Vanadates	Vanadates results in decreased expression of SMO mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of SMO gene	25560391
D024483	Vitamin K 3	Vitamin K 3 affects the expression of SMO mRNA	20044591
D015032	Zinc	Zinc deficiency results in increased expression of SMO mRNA	20932299
D015032	Zinc	Zinc results in increased expression of SMO mRNA	19071009

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0966	Cell projection
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR015526	Frizzled/SFRP
IPR000539	Frizzled/Smoothened_TM
IPR020067	Frizzled_dom
IPR036790	Frizzled_dom_sf
IPR017981	GPCR_2-like
IPR026544	SMO
IPR041771	SMO_CRD

PROSITE

PROSITE ID	PROSITE Term
PS50038	FZ
PS50261	G_PROTEIN_RECEP_F2_4

Pfam

Pfam ID	Pfam Term
PF01534	Frizzled
PF01392	Fz

Gene: SMO

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction