CleftGeneDB-Search

Gene: COL2A1

Basic information

Tag	Content
Uniprot ID	P02458; A6NGA0; Q12985; Q14009; Q14044; Q14045; Q14046; Q14047; Q14056; Q14058; Q16672; Q1JQ82; Q2V4X7; Q6LBY1; Q6LBY2; Q6LBY3; Q96IT5; Q99227; Q9UE38; Q9UE39; Q9UE40; Q9UE41; Q9UE42; Q9UE43;
Entrez ID	1280
Genbank protein ID	CAA40330.1; AAC41772.1; CAA34683.1; CAA26226.1; AAA73873.1; CAA34284.1; AAD15287.1; CAA26224.1; CAA34282.1; AAA52039.1; CAA34279.1; AAI16450.1; AAH07252.1; AAA58428.2; CAA34278.1; AAB60370.1; CAA34280.1; CAA34281.1; CAA25092.1; CAA26225.1; CAA34283.1; CAA26223.1; CAA32030.1; AAA52038.1; AAA52051.1; AAP35869.1; CAA34488.1; AAA51997.1; CAA26227.1; CAA29604.1;
Genbank nucleotide ID	NM_033150.2; NM_001844.4;
Ensembl protein ID	ENSP00000369889; ENSP00000338213;
Ensembl nucleotide ID	ENSG00000139219
Gene name	Collagen alpha-1(II) chain
Gene symbol	COL2A1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
Sequence	MIRLGAPQTL VLLTLLVAAV LRCQGQDVQE AGSCVQDGQR YNDKDVWKPE PCRICVCDTG 60 TVLCDDIICE DVKDCLSPEI PFGECCPICP TDLATASGQP GPKGQKGEPG DIKDIVGPKG 120 PPGPQGPAGE QGPRGDRGDK GEKGAPGPRG RDGEPGTPGN PGPPGPPGPP GPPGLGGNFA 180 AQMAGGFDEK AGGAQLGVMQ GPMGPMGPRG PPGPAGAPGP QGFQGNPGEP GEPGVSGPMG 240 PRGPPGPPGK PGDDGEAGKP GKAGERGPPG PQGARGFPGT PGLPGVKGHR GYPGLDGAKG 300 EAGAPGVKGE SGSPGENGSP GPMGPRGLPG ERGRTGPAGA AGARGNDGQP GPAGPPGPVG 360 PAGGPGFPGA PGAKGEAGPT GARGPEGAQG PRGEPGTPGS PGPAGASGNP GTDGIPGAKG 420 SAGAPGIAGA PGFPGPRGPP GPQGATGPLG PKGQTGEPGI AGFKGEQGPK GEPGPAGPQG 480 APGPAGEEGK RGARGEPGGV GPIGPPGERG APGNRGFPGQ DGLAGPKGAP GERGPSGLAG 540 PKGANGDPGR PGEPGLPGAR GLTGRPGDAG PQGKVGPSGA PGEDGRPGPP GPQGARGQPG 600 VMGFPGPKGA NGEPGKAGEK GLPGAPGLRG LPGKDGETGA AGPPGPAGPA GERGEQGAPG 660 PSGFQGLPGP PGPPGEGGKP GDQGVPGEAG APGLVGPRGE RGFPGERGSP GAQGLQGPRG 720 LPGTPGTDGP KGASGPAGPP GAQGPPGLQG MPGERGAAGI AGPKGDRGDV GEKGPEGAPG 780 KDGGRGLTGP IGPPGPAGAN GEKGEVGPPG PAGSAGARGA PGERGETGPP GPAGFAGPPG 840 ADGQPGAKGE QGEAGQKGDA GAPGPQGPSG APGPQGPTGV TGPKGARGAQ GPPGATGFPG 900 AAGRVGPPGS NGNPGPPGPP GPSGKDGPKG ARGDSGPPGR AGEPGLQGPA GPPGEKGEPG 960 DDGPSGAEGP PGPQGLAGQR GIVGLPGQRG ERGFPGLPGP SGEPGKQGAP GASGDRGPPG 1020 PVGPPGLTGP AGEPGREGSP GADGPPGRDG AAGVKGDRGE TGAVGAPGAP GPPGSPGPAG 1080 PTGKQGDRGE AGAQGPMGPS GPAGARGIQG PQGPRGDKGE AGEPGERGLK GHRGFTGLQG 1140 LPGPPGPSGD QGASGPAGPS GPRGPPGPVG PSGKDGANGI PGPIGPPGPR GRSGETGPAG 1200 PPGNPGPPGP PGPPGPGIDM SAFAGLGPRE KGPDPLQYMR ADQAAGGLRQ HDAEVDATLK 1260 SLNNQIESIR SPEGSRKNPA RTCRDLKLCH PEWKSGDYWI DPNQGCTLDA MKVFCNMETG 1320 ETCVYPNPAN VPKKNWWSSK SKEKKHIWFG ETINGGFHFS YGDDNLAPNT ANVQMTFLRL 1380 LSTEGSQNIT YHCKNSIAYL DEAAGNLKKA LLIQGSNDVE IRAEGNSRFT YTALKDGCTK 1440 HTGKWGKTVI EYRSQKTSRL PIIDIAPMDI GGPEQEFGVD IGPVCFL 1487

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
1U5M
2FSE
2SEB
5NIR
5OCX
5OCY
6BIN
5NIR

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	COL2A1	407142	P02459		Bos taurus	Prediction	More>>
1:1 ortholog	COL2A1		A0A452E0F9		Capra hircus	Prediction	More>>
1:1 ortholog	COL2A1	791241	A0A5F5PIB7		Equus caballus	Prediction	More>>
1:1 ortholog	COL2A1	1280	P02458		Homo sapiens	Prediction	More>>
1:1 ortholog	Col2a1	12824	P28481	CPO	Mus musculus	Publication	More>>
1:1 ortholog	COL2A1	451860	H2Q5S8		Pan troglodytes	Prediction	More>>
1:1 ortholog	COL2A1	100009005	G1T5V9		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Col2a1		F1LRM7		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs372229776	p.Arg3His	missense variant	-	NC_000012.12:g.48004314C>T	ESP,TOPMed,gnomAD
rs372229776	p.Arg3Leu	missense variant	-	NC_000012.12:g.48004314C>A	ESP,TOPMed,gnomAD
rs898585011	p.Arg3Gly	missense variant	-	NC_000012.12:g.48004315G>C	TOPMed,gnomAD
rs898585011	p.Arg3Cys	missense variant	-	NC_000012.12:g.48004315G>A	TOPMed,gnomAD
rs898585011	p.Arg3Ser	missense variant	-	NC_000012.12:g.48004315G>T	TOPMed,gnomAD
rs1335702587	p.Leu4Pro	missense variant	-	NC_000012.12:g.48004311A>G	TOPMed
rs1275888661	p.Gly5Arg	missense variant	-	NC_000012.12:g.48004309C>G	gnomAD
rs557340983	p.Gly5Ala	missense variant	-	NC_000012.12:g.48004308C>G	1000Genomes,TOPMed,gnomAD
rs369359592	p.Ala6Asp	missense variant	-	NC_000012.12:g.48004305G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs369359592	p.Ala6Val	missense variant	-	NC_000012.12:g.48004305G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1283945940	p.Ala6Thr	missense variant	-	NC_000012.12:g.48004306C>T	gnomAD
RCV000606916	p.Ala6Asp	missense variant	-	NC_000012.12:g.48004305G>T	ClinVar
rs1340689824	p.Pro7Ser	missense variant	-	NC_000012.12:g.48004303G>A	gnomAD
rs1314340565	p.Pro7Leu	missense variant	-	NC_000012.12:g.48004302G>A	gnomAD
rs1369890473	p.Gln8Lys	missense variant	-	NC_000012.12:g.48004300G>T	gnomAD
rs1131691546	p.Thr9Ter	stop gained	-	NC_000012.12:g.48004296_48004297delinsTA	-
rs557946588	p.Thr9Arg	missense variant	-	NC_000012.12:g.48004296G>C	1000Genomes,TOPMed
rs3803183	p.Thr9Ser	missense variant	-	NC_000012.12:g.48004297T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000493711	p.Thr9Ter	nonsense	-	NC_000012.12:g.48004296_48004297delinsTA	ClinVar
RCV000342882	p.Thr9Ser	missense variant	Type II Collagenopathies	NC_000012.12:g.48004297T>A	ClinVar
RCV000406531	p.Thr9Ser	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.48004297T>A	ClinVar
rs1363528151	p.Leu10Gln	missense variant	-	NC_000012.12:g.48004293A>T	gnomAD
rs1162410146	p.Leu13Arg	missense variant	-	NC_000012.12:g.48004284A>C	gnomAD
rs1162410146	p.Leu13Pro	missense variant	-	NC_000012.12:g.48004284A>G	gnomAD
rs1370410549	p.Val17Ile	missense variant	-	NC_000012.12:g.48004273C>T	gnomAD
NCI-TCGA novel	p.Val17Ala	missense variant	-	NC_000012.12:g.48004272A>G	NCI-TCGA
rs1472271077	p.Gln24Arg	missense variant	-	NC_000012.12:g.48004251T>C	gnomAD
rs1190060899	p.Gln29Pro	missense variant	-	NC_000012.12:g.48000125T>G	gnomAD
rs779475416	p.Gly32Ser	missense variant	-	NC_000012.12:g.48000117C>T	ExAC,gnomAD
rs765855138	p.Gly38Arg	missense variant	-	NC_000012.12:g.48000099C>T	ExAC,TOPMed,gnomAD
rs1010211097	p.Gly38Ala	missense variant	-	NC_000012.12:g.48000098C>G	TOPMed
COSM1361854	p.Gly38Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.48000098C>A	NCI-TCGA Cosmic
rs1299510101	p.Tyr41Ser	missense variant	-	NC_000012.12:g.48000089T>G	gnomAD
COSM1322486	p.Asp43Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.48000084C>T	NCI-TCGA Cosmic
rs375778172	p.Asp45Glu	missense variant	-	NC_000012.12:g.48000076A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202145830	p.Asp45Tyr	missense variant	-	NC_000012.12:g.48000078C>A	gnomAD
rs121912896	p.Trp47Ter	stop gained	-	NC_000012.12:g.48000070C>T	-
rs1064793352	p.Trp47Arg	missense variant	-	NC_000012.12:g.48000072A>G	-
COSM3461292	p.Trp47Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.48000071C>T	NCI-TCGA Cosmic
RCV000483696	p.Trp47Arg	missense variant	-	NC_000012.12:g.48000072A>G	ClinVar
RCV000018944	p.Trp47Ter	nonsense	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.48000070C>T	ClinVar
NCI-TCGA novel	p.Trp47Cys	missense variant	-	NC_000012.12:g.48000070C>A	NCI-TCGA
rs774081386	p.Pro49Leu	missense variant	-	NC_000012.12:g.48000065G>A	ExAC,TOPMed,gnomAD
rs945234297	p.Pro51Ser	missense variant	-	NC_000012.12:g.48000060G>A	TOPMed,gnomAD
rs1246771678	p.Cys52Ter	stop gained	-	NC_000012.12:g.48000055G>T	TOPMed
RCV000659383	p.Cys52Ter	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.48000055G>T	ClinVar
rs776744207	p.Arg53Trp	missense variant	-	NC_000012.12:g.48000054G>A	ExAC,TOPMed,gnomAD
rs370821294	p.Arg53Gln	missense variant	-	NC_000012.12:g.48000053C>T	ESP,ExAC,TOPMed,gnomAD
rs776744207	p.Arg53Gly	missense variant	-	NC_000012.12:g.48000054G>C	ExAC,TOPMed,gnomAD
rs121912898	p.Cys57Tyr	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.48000041C>T	UniProt,dbSNP
VAR_063891	p.Cys57Tyr	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.48000041C>T	UniProt
rs121912898	p.Cys57Tyr	missense variant	-	NC_000012.12:g.48000041C>T	-
RCV000018946	p.Cys57Tyr	missense variant	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.48000041C>T	ClinVar
NCI-TCGA novel	p.Asp58Asn	missense variant	-	NC_000012.12:g.48000039C>T	NCI-TCGA
rs376641474	p.Thr59Ala	missense variant	-	NC_000012.12:g.48000036T>C	ESP,ExAC,TOPMed,gnomAD
rs773434184	p.Gly60Arg	missense variant	-	NC_000012.12:g.48000033C>T	ExAC,gnomAD
rs748537902	p.Val62Leu	missense variant	-	NC_000012.12:g.48000027C>G	ExAC
rs121912897	p.Cys64Ter	stop gained	-	NC_000012.12:g.48000019G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000657640	p.Cys64Ter	nonsense	-	NC_000012.12:g.48000019G>T	ClinVar
RCV000018945	p.Cys64Ter	nonsense	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.48000019G>T	ClinVar
COSM1361853	p.Asp65Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.48000018C>T	NCI-TCGA Cosmic
rs976006680	p.Asp66Asn	missense variant	-	NC_000012.12:g.48000015C>T	TOPMed,gnomAD
rs976006680	p.Asp66Tyr	missense variant	-	NC_000012.12:g.48000015C>A	TOPMed,gnomAD
rs749799023	p.Cys69Arg	missense variant	-	NC_000012.12:g.48000006A>G	ExAC,gnomAD
rs943372344	p.Asp71Asn	missense variant	-	NC_000012.12:g.48000000C>T	TOPMed
NCI-TCGA novel	p.Asp71Tyr	missense variant	-	NC_000012.12:g.48000000C>A	NCI-TCGA
rs755705390	p.Val72Leu	missense variant	-	NC_000012.12:g.47999997C>A	ExAC,TOPMed,gnomAD
rs755705390	p.Val72Met	missense variant	-	NC_000012.12:g.47999997C>T	ExAC,TOPMed,gnomAD
rs750031645	p.Asp74Gly	missense variant	-	NC_000012.12:g.47999990T>C	ExAC,gnomAD
rs767276172	p.Cys75Ser	missense variant	-	NC_000012.12:g.47999988A>T	ExAC,gnomAD
rs952199404	p.Pro78Leu	missense variant	-	NC_000012.12:g.47999978G>A	TOPMed
rs757029242	p.Glu79Asp	missense variant	-	NC_000012.12:g.47999974C>G	ExAC,gnomAD
COSM144074	p.Pro81Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47999969G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro81Arg	missense variant	-	NC_000012.12:g.47999969G>C	NCI-TCGA
rs1292156036	p.Pro81Ser	missense variant	-	NC_000012.12:g.47999970G>A	gnomAD
rs762911032	p.Gly83Arg	missense variant	-	NC_000012.12:g.47999964C>T	ExAC,TOPMed,gnomAD
rs794727261	p.Cys86Ter	stop gained	-	NC_000012.12:g.47999953G>T	-
RCV000255165	p.Cys86Ter	nonsense	-	NC_000012.12:g.47999953G>T	ClinVar
RCV000762897	p.Cys86Ter	nonsense	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47999953G>T	ClinVar
rs760745824	p.Ile88Phe	missense variant	-	NC_000012.12:g.47999949T>A	ExAC,TOPMed,gnomAD
rs760745824	p.Ile88Val	missense variant	-	NC_000012.12:g.47999949T>C	ExAC,TOPMed,gnomAD
COSM4831419	p.Cys89Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47999944G>T	NCI-TCGA Cosmic
COSM693802	p.Cys89Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47999945C>A	NCI-TCGA Cosmic
rs773342588	p.Pro90Leu	missense variant	-	NC_000012.12:g.47999942G>A	ExAC,gnomAD
rs1252498034	p.Thr91Ala	missense variant	-	NC_000012.12:g.47999940T>C	gnomAD
NCI-TCGA novel	p.Leu93Phe	missense variant	-	NC_000012.12:g.47999934G>A	NCI-TCGA
rs1224104246	p.Ala94Val	missense variant	-	NC_000012.12:g.47999930G>A	TOPMed,gnomAD
rs768931460	p.Ala94Thr	missense variant	-	NC_000012.12:g.47999931C>T	ExAC,gnomAD
COSM270912	p.Ala96Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47999925C>T	NCI-TCGA Cosmic
RCV000358878	p.Gln99Ter	frameshift	-	NC_000012.12:g.47998428del	ClinVar
rs763903953	p.Pro100Arg	missense variant	-	NC_000012.12:g.47998425G>C	ExAC,gnomAD
rs763903953	p.Pro100Leu	missense variant	-	NC_000012.12:g.47998425G>A	ExAC,gnomAD
rs557218250	p.Gly101Val	missense variant	-	NC_000012.12:g.47998422C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1217575381	p.Gly101Arg	missense variant	-	NC_000012.12:g.47998423C>T	TOPMed
rs1015202999	p.Gly104Glu	missense variant	-	NC_000012.12:g.47998200C>T	TOPMed
rs764210489	p.Gly104Arg	missense variant	-	NC_000012.12:g.47998201C>T	ExAC,TOPMed,gnomAD
RCV000485870	p.Gly104Arg	missense variant	-	NC_000012.12:g.47998201C>T	ClinVar
NCI-TCGA novel	p.Gln105His	missense variant	-	NC_000012.12:g.47998196C>A	NCI-TCGA
COSM3368831	p.Lys106Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47998195T>C	NCI-TCGA Cosmic
rs140120720	p.Pro109Arg	missense variant	-	NC_000012.12:g.47998185G>C	ESP,ExAC,gnomAD
rs373195482	p.Pro109Ser	missense variant	-	NC_000012.12:g.47998186G>A	ESP,ExAC,gnomAD
rs760076089	p.Asp111Glu	missense variant	-	NC_000012.12:g.47998178G>T	ExAC,gnomAD
rs1260264802	p.Asp111Tyr	missense variant	-	NC_000012.12:g.47998180C>A	gnomAD
rs777293765	p.Ile112Val	missense variant	-	NC_000012.12:g.47998177T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile112Thr	missense variant	-	NC_000012.12:g.47998176A>G	NCI-TCGA
rs746493017	p.Asp114Gly	missense variant	-	NC_000012.12:g.47998170T>C	ExAC,gnomAD
rs1341039824	p.Asp114Glu	missense variant	-	NC_000012.12:g.47998169A>C	gnomAD
rs1329462343	p.Ile115Val	missense variant	-	NC_000012.12:g.47998064T>C	TOPMed
rs779950053	p.Val116Ala	missense variant	-	NC_000012.12:g.47998060A>G	ExAC,gnomAD
rs201192882	p.Gly117Ala	missense variant	-	NC_000012.12:g.47998057C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs755974820	p.Gly117Arg	missense variant	-	NC_000012.12:g.47998058C>G	ExAC,gnomAD
RCV000522522	p.Gly117Ala	missense variant	-	NC_000012.12:g.47998057C>G	ClinVar
NCI-TCGA novel	p.Gly117Arg	missense variant	-	NC_000012.12:g.47998058C>T	NCI-TCGA
rs777669076	p.Pro118Leu	missense variant	-	NC_000012.12:g.47998054G>A	ExAC,gnomAD
rs758569692	p.Lys119Arg	missense variant	-	NC_000012.12:g.47998051T>C	ExAC,gnomAD
rs987213463	p.Pro121Leu	missense variant	-	NC_000012.12:g.47998045G>A	TOPMed
rs754127735	p.Pro124Arg	missense variant	-	NC_000012.12:g.47998036G>C	ExAC,TOPMed,gnomAD
rs754127735	p.Pro124Leu	missense variant	-	NC_000012.12:g.47998036G>A	ExAC,TOPMed,gnomAD
COSM4929539	p.Gln125Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47998033T>C	NCI-TCGA Cosmic
rs1228023557	p.Gly126Arg	missense variant	-	NC_000012.12:g.47997924C>T	gnomAD
rs766601966	p.Ala128Val	missense variant	-	NC_000012.12:g.47997917G>A	ExAC,gnomAD
rs375448469	p.Glu130Gln	missense variant	-	NC_000012.12:g.47997912C>G	ESP,ExAC,TOPMed,gnomAD
rs750828374	p.Gln131Pro	missense variant	-	NC_000012.12:g.47997908T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly132Arg	missense variant	-	NC_000012.12:g.47997906C>T	NCI-TCGA
NCI-TCGA novel	p.Gly132Ter	stop gained	-	NC_000012.12:g.47997906C>A	NCI-TCGA
rs201234519	p.Pro133His	missense variant	-	NC_000012.12:g.47997902G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro133Leu	missense variant	-	NC_000012.12:g.47997902G>A	NCI-TCGA
rs1231923494	p.Asp136Gly	missense variant	-	NC_000012.12:g.47997893T>C	TOPMed
rs1313979826	p.Asp136His	missense variant	-	NC_000012.12:g.47997894C>G	gnomAD
rs762357071	p.Arg137Cys	missense variant	-	NC_000012.12:g.47997891G>A	ExAC,TOPMed,gnomAD
rs201675352	p.Arg137His	missense variant	-	NC_000012.12:g.47997890C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1402865784	p.Asp139Asn	missense variant	-	NC_000012.12:g.47997885C>T	TOPMed,gnomAD
rs34392760	p.Glu142Asp	missense variant	-	NC_000012.12:g.47997874T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34392760	p.Glu142Asp	missense variant	-	NC_000012.12:g.47997874T>A	UniProt,dbSNP
VAR_033782	p.Glu142Asp	missense variant	-	NC_000012.12:g.47997874T>A	UniProt
COSM3461289	p.Glu142Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997876C>T	NCI-TCGA Cosmic
RCV000252660	p.Glu142Asp	missense variant	-	NC_000012.12:g.47997874T>A	ClinVar
RCV000755240	p.Glu142Asp	missense variant	-	NC_000012.12:g.47997874T>A	ClinVar
rs757721177	p.Ala145Val	missense variant	-	NC_000012.12:g.47997703G>A	ExAC,TOPMed
rs1181216326	p.Pro146Ser	missense variant	-	NC_000012.12:g.47997701G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly147TrpPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47997699_47997700insG	NCI-TCGA
rs763538232	p.Arg149Leu	missense variant	-	NC_000012.12:g.47997691C>A	ExAC,TOPMed,gnomAD
rs763538232	p.Arg149His	missense variant	-	NC_000012.12:g.47997691C>T	ExAC,TOPMed,gnomAD
rs144505311	p.Arg149Cys	missense variant	-	NC_000012.12:g.47997692G>A	ESP,TOPMed,gnomAD
rs762532133	p.Gly150Ser	missense variant	-	NC_000012.12:g.47997689C>T	ExAC,gnomAD
rs752217760	p.Arg151Gly	missense variant	-	NC_000012.12:g.47997686T>C	ExAC,gnomAD
rs764933825	p.Asp152Val	missense variant	-	NC_000012.12:g.47997682T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp152Gly	missense variant	-	NC_000012.12:g.47997682T>C	NCI-TCGA
NCI-TCGA novel	p.Asp152His	missense variant	-	NC_000012.12:g.47997683C>G	NCI-TCGA
NCI-TCGA novel	p.Asp152GluPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47997678_47997681TCCA>-	NCI-TCGA
rs1327712915	p.Glu154Gly	missense variant	-	NC_000012.12:g.47997676T>C	TOPMed,gnomAD
COSM693803	p.Glu154Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997677C>G	NCI-TCGA Cosmic
rs1049950456	p.Pro155His	missense variant	-	NC_000012.12:g.47997673G>T	gnomAD
rs759164471	p.Pro155Thr	missense variant	-	NC_000012.12:g.47997674G>T	ExAC,gnomAD
rs1376031009	p.Thr157Ala	missense variant	-	NC_000012.12:g.47997668T>C	gnomAD
rs770876325	p.Thr157Ile	missense variant	-	NC_000012.12:g.47997667G>A	ExAC,gnomAD
rs770876325	p.Thr157Asn	missense variant	-	NC_000012.12:g.47997667G>T	ExAC,gnomAD
rs1050861	p.Pro158Leu	missense variant	-	NC_000012.12:g.47997664G>A	-
COSM1361849	p.Gly159Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997661C>A	NCI-TCGA Cosmic
rs1457789719	p.Pro161His	missense variant	-	NC_000012.12:g.47997655G>T	TOPMed
rs1462514936	p.Gly162Ala	missense variant	-	NC_000012.12:g.47997652C>G	gnomAD
NCI-TCGA novel	p.Gly162Ser	missense variant	-	NC_000012.12:g.47997653C>T	NCI-TCGA
rs773293581	p.Pro164Arg	missense variant	-	NC_000012.12:g.47997646G>C	ExAC,gnomAD
rs773293581	p.Pro164His	missense variant	-	NC_000012.12:g.47997646G>T	ExAC,gnomAD
rs947063848	p.Pro164Ser	missense variant	-	NC_000012.12:g.47997647G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro164LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47997646G>-	NCI-TCGA
rs1189243130	p.Gly168Asp	missense variant	-	NC_000012.12:g.47997634C>T	gnomAD
rs746108926	p.Pro169Leu	missense variant	-	NC_000012.12:g.47997631G>A	ExAC,TOPMed,gnomAD
rs746108926	p.Pro169His	missense variant	-	NC_000012.12:g.47997631G>T	ExAC,TOPMed,gnomAD
rs770027510	p.Pro169Thr	missense variant	-	NC_000012.12:g.47997632G>T	ExAC,gnomAD
rs770027510	p.Pro169Ser	missense variant	-	NC_000012.12:g.47997632G>A	ExAC,gnomAD
rs1253027973	p.Pro170Leu	missense variant	-	NC_000012.12:g.47997628G>A	TOPMed
rs200882049	p.Pro170Ala	missense variant	-	NC_000012.12:g.47997629G>C	ExAC,gnomAD
rs200882049	p.Pro170Ser	missense variant	-	NC_000012.12:g.47997629G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro170LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47997628G>-	NCI-TCGA
RCV000522118	p.Pro170Ser	missense variant	-	NC_000012.12:g.47997629G>A	ClinVar
rs1555169086	p.Gly171Leu	missense variant	-	NC_000012.12:g.47997625_47997626delinsAG	-
rs958614345	p.Gly171Arg	missense variant	-	NC_000012.12:g.47997626C>G	TOPMed,gnomAD
rs928430270	p.Gly171Val	missense variant	-	NC_000012.12:g.47997625C>A	TOPMed,gnomAD
RCV000599279	p.Gly171Leu	missense variant	-	NC_000012.12:g.47997625_47997626delinsAG	ClinVar
COSM3461287	p.Pro172Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997622G>A	NCI-TCGA Cosmic
rs528081130	p.Pro173Arg	missense variant	-	NC_000012.12:g.47997619G>C	ExAC,TOPMed,gnomAD
COSM1705544	p.Pro173Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997620G>A	NCI-TCGA Cosmic
rs1456652132	p.Gly174Val	missense variant	-	NC_000012.12:g.47997616C>A	TOPMed
rs201003836	p.Gly176Ser	missense variant	-	NC_000012.12:g.47997611C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201003836	p.Gly176Cys	missense variant	-	NC_000012.12:g.47997611C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764690054	p.Gly177Glu	missense variant	-	NC_000012.12:g.47997607C>T	ExAC,gnomAD
rs1379588096	p.Asn178Lys	missense variant	-	NC_000012.12:g.47996623G>C	TOPMed
rs750219742	p.Phe179Ser	missense variant	-	NC_000012.12:g.47996621A>G	ExAC,gnomAD
rs886041843	p.Gln182Ter	stop gained	-	NC_000012.12:g.47996613G>A	-
RCV000405387	p.Gln182Ter	nonsense	-	NC_000012.12:g.47996613G>A	ClinVar
rs1375888658	p.Met183Ile	missense variant	-	NC_000012.12:g.47996608C>T	gnomAD
rs201817670	p.Ala184Thr	missense variant	-	NC_000012.12:g.47996607C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201817670	p.Ala184Ser	missense variant	-	NC_000012.12:g.47996607C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000659386	p.Ala184Thr	missense variant	Connective tissue disorder	NC_000012.12:g.47996607C>T	ClinVar
rs1377836159	p.Gly186Arg	missense variant	-	NC_000012.12:g.47996601C>T	gnomAD
COSM415836	p.Asp188His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47996595C>G	NCI-TCGA Cosmic
rs764878166	p.Gly193Asp	missense variant	-	NC_000012.12:g.47996579C>T	ExAC,TOPMed,gnomAD
rs371445823	p.Ala194Thr	missense variant	-	NC_000012.12:g.47996577C>T	ESP,ExAC,TOPMed,gnomAD
rs150749468	p.Gln195Leu	missense variant	-	NC_000012.12:g.47996573T>A	ESP
NCI-TCGA novel	p.Gln195His	missense variant	-	NC_000012.12:g.47996572C>G	NCI-TCGA
rs1203369669	p.Gly201Glu	missense variant	-	NC_000012.12:g.47996555C>T	gnomAD
rs1250360919	p.Met203Thr	missense variant	-	NC_000012.12:g.47996549A>G	gnomAD
rs1270797857	p.Met206Thr	missense variant	-	NC_000012.12:g.47995912A>G	gnomAD
rs869312907	p.Gly207Arg	missense variant	-	NC_000012.12:g.47995910C>T	-
RCV000210454	p.Gly207Arg	missense variant	Spondyloepiphyseal dysplasia, stanescu type (SEDSTN)	NC_000012.12:g.47995910C>T	ClinVar
COSM3871693	p.Gly207Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47995909C>T	NCI-TCGA Cosmic
rs1049536561	p.Pro208Leu	missense variant	-	NC_000012.12:g.47995906G>A	TOPMed
rs121912869	p.Arg209Ter	stop gained	-	NC_000012.12:g.47995904G>A	-
RCV000018904	p.Arg209Ter	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47995904G>A	ClinVar
RCV000579130	p.Arg209Ter	nonsense	-	NC_000012.12:g.47995904G>A	ClinVar
RCV000710793	p.Pro211Ser	missense variant	-	NC_000012.12:g.47995898G>A	ClinVar
rs766480693	p.Ala215Glu	missense variant	-	NC_000012.12:g.47995885G>T	ExAC,TOPMed,gnomAD
rs766480693	p.Ala215Val	missense variant	-	NC_000012.12:g.47995885G>A	ExAC,TOPMed,gnomAD
rs887129196	p.Ala215Thr	missense variant	-	NC_000012.12:g.47995886C>T	TOPMed
rs1064794264	p.Gly216Asp	missense variant	-	NC_000012.12:g.47995882C>T	-
RCV000484205	p.Gly216Asp	missense variant	-	NC_000012.12:g.47995882C>T	ClinVar
rs1232544067	p.Ala217Ser	missense variant	-	NC_000012.12:g.47995880C>A	TOPMed
rs1131691822	p.Gly219Arg	missense variant	-	NC_000012.12:g.47995763C>T	-
RCV000494511	p.Gly219Arg	missense variant	-	NC_000012.12:g.47995763C>T	ClinVar
rs368187891	p.Gln221Pro	missense variant	-	NC_000012.12:g.47995756T>G	ESP,ExAC,TOPMed,gnomAD
rs949573200	p.Gln224Pro	missense variant	-	NC_000012.12:g.47995747T>G	TOPMed
NCI-TCGA novel	p.Pro227Ser	missense variant	-	NC_000012.12:g.47995739G>A	NCI-TCGA
rs1302899634	p.Glu229Gly	missense variant	-	NC_000012.12:g.47995732T>C	gnomAD
NCI-TCGA novel	p.Glu229Lys	missense variant	-	NC_000012.12:g.47995733C>T	NCI-TCGA
NCI-TCGA novel	p.Gly234IleThrGlyGlu	insertion	-	NC_000012.12:g.47995715_47995716insCTCACCCGTGAT	NCI-TCGA
rs767618731	p.Val235Ile	missense variant	-	NC_000012.12:g.47995715C>T	ExAC,gnomAD
rs763407810	p.Pro238Ala	missense variant	-	NC_000012.12:g.47995305G>C	ExAC,gnomAD
rs1350339086	p.Met239Leu	missense variant	-	NC_000012.12:g.47995302T>A	gnomAD
rs1350339086	p.Met239Val	missense variant	-	NC_000012.12:g.47995302T>C	gnomAD
RCV000377412	p.Met239Ter	frameshift	-	NC_000012.12:g.47995305dup	ClinVar
VAR_063892	p.Gly240Asp	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
rs1198767080	p.Pro241Ser	missense variant	-	NC_000012.12:g.47995296G>A	gnomAD
rs1023703904	p.Arg242His	missense variant	-	NC_000012.12:g.47995292C>T	TOPMed,gnomAD
rs1271100187	p.Arg242Cys	missense variant	-	NC_000012.12:g.47995293G>A	gnomAD
NCI-TCGA novel	p.Arg242ValPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47995293G>-	NCI-TCGA
NCI-TCGA novel	p.Arg242Ser	missense variant	-	NC_000012.12:g.47995293G>T	NCI-TCGA
rs1333696091	p.Pro245Thr	missense variant	-	NC_000012.12:g.47995284G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro245Ser	missense variant	-	NC_000012.12:g.47995284G>A	NCI-TCGA
rs377490073	p.Pro247Thr	missense variant	-	NC_000012.12:g.47995278G>T	ESP,ExAC,TOPMed,gnomAD
rs377490073	p.Pro247Ser	missense variant	-	NC_000012.12:g.47995278G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro247Leu	missense variant	-	NC_000012.12:g.47995277G>A	NCI-TCGA
NCI-TCGA novel	p.Pro247Ala	missense variant	-	NC_000012.12:g.47995278G>C	NCI-TCGA
rs760132838	p.Pro248Arg	missense variant	-	NC_000012.12:g.47995274G>C	ExAC,gnomAD
rs1355313017	p.Lys250Asn	missense variant	-	NC_000012.12:g.47995267C>A	gnomAD
rs775967429	p.Lys250Met	missense variant	-	NC_000012.12:g.47995268T>A	ExAC,TOPMed,gnomAD
rs1012776131	p.Asp254Tyr	missense variant	-	NC_000012.12:g.47995257C>A	gnomAD
rs770501502	p.Asp254Glu	missense variant	-	NC_000012.12:g.47995255A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala257Ser	missense variant	-	NC_000012.12:g.47994471C>A	NCI-TCGA
rs1470645150	p.Pro260Ser	missense variant	-	NC_000012.12:g.47994462G>A	TOPMed,gnomAD
COSM4967479	p.Gly261Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47994458C>T	NCI-TCGA Cosmic
rs1270453988	p.Lys262Asn	missense variant	-	NC_000012.12:g.47994454T>G	TOPMed
rs769679774	p.Lys262Arg	missense variant	-	NC_000012.12:g.47994455T>C	ExAC,TOPMed,gnomAD
COSM3688212	p.Ala263Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47994452G>T	NCI-TCGA Cosmic
COSM468406	p.Glu265Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47994447C>T	NCI-TCGA Cosmic
rs121912872	p.Gly267Asp	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.47994440C>T	UniProt,dbSNP
VAR_001738	p.Gly267Asp	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.47994440C>T	UniProt
rs121912872	p.Gly267Asp	missense variant	-	NC_000012.12:g.47994440C>T	-
RCV000018908	p.Gly267Asp	missense variant	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.47994440C>T	ClinVar
rs142770543	p.Pro268Leu	missense variant	-	NC_000012.12:g.47994437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000351659	p.Pro268Leu	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47994437G>A	ClinVar
RCV000481919	p.Pro268Leu	missense variant	-	NC_000012.12:g.47994437G>A	ClinVar
RCV000763850	p.Pro268Leu	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47994437G>A	ClinVar
RCV000296689	p.Pro268Leu	missense variant	Type II Collagenopathies	NC_000012.12:g.47994437G>A	ClinVar
VAR_063893	p.Gly270Arg	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
rs755370440	p.Pro271Leu	missense variant	-	NC_000012.12:g.47994428G>A	ExAC
NCI-TCGA novel	p.Pro271Thr	missense variant	-	NC_000012.12:g.47994429G>T	NCI-TCGA
NCI-TCGA novel	p.Gly273Cys	missense variant	-	NC_000012.12:g.47994047C>A	NCI-TCGA
rs1395857722	p.Ala274Thr	missense variant	-	NC_000012.12:g.47994044C>T	gnomAD
rs121912876	p.Arg275Cys	missense variant	-	NC_000012.12:g.47994041G>A	-
rs121912876	p.Arg275Cys	missense variant	Czech dysplasia (CZECHD)	NC_000012.12:g.47994041G>A	UniProt,dbSNP
VAR_001739	p.Arg275Cys	missense variant	Czech dysplasia (CZECHD)	NC_000012.12:g.47994041G>A	UniProt
rs761317829	p.Arg275His	missense variant	-	NC_000012.12:g.47994040C>T	ExAC,TOPMed,gnomAD
RCV000018912	p.Arg275Cys	missense variant	Czech dysplasia metatarsal type	NC_000012.12:g.47994041G>A	ClinVar
NCI-TCGA novel	p.Phe277Leu	missense variant	-	NC_000012.12:g.47994033G>C	NCI-TCGA
rs763778559	p.Pro281Leu	missense variant	-	NC_000012.12:g.47994022G>A	ExAC,gnomAD
rs751088213	p.Pro281Thr	missense variant	-	NC_000012.12:g.47994023G>T	ExAC,gnomAD
VAR_063894	p.Gly282Asp	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
rs1255854822	p.Leu283Ile	missense variant	-	NC_000012.12:g.47994017G>T	gnomAD
rs1422830655	p.Pro284Ala	missense variant	-	NC_000012.12:g.47994014G>C	TOPMed
NCI-TCGA novel	p.Gly288Cys	missense variant	-	NC_000012.12:g.47994002C>A	NCI-TCGA
rs1291318209	p.Tyr292Asn	missense variant	-	NC_000012.12:g.47993859A>T	gnomAD
rs759396969	p.Pro293Arg	missense variant	-	NC_000012.12:g.47993855G>C	ExAC,gnomAD
rs202103765	p.Leu295Arg	missense variant	-	NC_000012.12:g.47993849A>C	1000Genomes
NCI-TCGA novel	p.Leu295ProPheSerTerUnk	frameshift	-	NC_000012.12:g.47993851_47993852insT	NCI-TCGA
rs766401230	p.Glu301Ala	missense variant	-	NC_000012.12:g.47993831T>G	ExAC,gnomAD
rs1555168505	p.Ala302Val	missense variant	-	NC_000012.12:g.47993828G>A	-
RCV000518971	p.Ala302Val	missense variant	-	NC_000012.12:g.47993828G>A	ClinVar
VAR_001740	p.Ala302_Lys308del	inframe_deletion	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
rs121912877	p.Gly303Asp	missense variant	-	NC_000012.12:g.47993825C>T	-
rs121912877	p.Gly303Asp	missense variant	Kniest dysplasia (KD)	NC_000012.12:g.47993825C>T	UniProt,dbSNP
VAR_001741	p.Gly303Asp	missense variant	Kniest dysplasia (KD)	NC_000012.12:g.47993825C>T	UniProt
RCV000724305	p.Gly303Asp	missense variant	-	NC_000012.12:g.47993825C>T	ClinVar
RCV000018914	p.Gly303Asp	missense variant	Kniest dysplasia	NC_000012.12:g.47993825C>T	ClinVar
rs984944183	p.Ala304Ser	missense variant	-	NC_000012.12:g.47993823C>A	TOPMed
rs984944183	p.Ala304Thr	missense variant	-	NC_000012.12:g.47993823C>T	TOPMed
rs768643056	p.Ala304Gly	missense variant	-	NC_000012.12:g.47993822G>C	ExAC,gnomAD
rs768643056	p.Ala304Val	missense variant	-	NC_000012.12:g.47993822G>A	ExAC,gnomAD
rs776930872	p.Glu310Gln	missense variant	-	NC_000012.12:g.47993499C>G	ExAC,TOPMed,gnomAD
rs776930872	p.Glu310Lys	missense variant	-	NC_000012.12:g.47993499C>T	ExAC,TOPMed,gnomAD
rs778135776	p.Pro314Leu	missense variant	-	NC_000012.12:g.47993486G>A	ExAC,TOPMed,gnomAD
rs747479322	p.Pro314Ser	missense variant	-	NC_000012.12:g.47993487G>A	ExAC,TOPMed,gnomAD
rs747643988	p.Glu316Lys	missense variant	-	NC_000012.12:g.47993481C>T	ExAC,gnomAD
rs121912894	p.Gly318Arg	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47993475C>T	UniProt,dbSNP
VAR_023925	p.Gly318Arg	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47993475C>T	UniProt
rs121912894	p.Gly318Arg	missense variant	-	NC_000012.12:g.47993475C>T	-
RCV000018940	p.Gly318Arg	missense variant	Rhegmatogenous retinal detachment, autosomal dominant (DRRD)	NC_000012.12:g.47993475C>T	ClinVar
rs200549186	p.Pro320Leu	missense variant	-	NC_000012.12:g.47993468G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1382133199	p.Pro322Leu	missense variant	-	NC_000012.12:g.47993462G>A	gnomAD
rs200696675	p.Pro322Ser	missense variant	-	NC_000012.12:g.47993463G>A	ExAC,TOPMed,gnomAD
rs755868094	p.Met323Val	missense variant	-	NC_000012.12:g.47993460T>C	ExAC,gnomAD
rs1380248932	p.Met323Lys	missense variant	-	NC_000012.12:g.47993459A>T	TOPMed,gnomAD
rs1342179173	p.Met323Ile	missense variant	-	NC_000012.12:g.47993458C>G	gnomAD
rs779569736	p.Gly324Ala	missense variant	-	NC_000012.12:g.47992930C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro325Ala	missense variant	-	NC_000012.12:g.47992928G>C	NCI-TCGA
NCI-TCGA novel	p.Arg326Cys	missense variant	-	NC_000012.12:g.47992925G>A	NCI-TCGA
rs1211158520	p.Pro329Arg	missense variant	-	NC_000012.12:g.47992915G>C	TOPMed,gnomAD
rs1211158520	p.Pro329Leu	missense variant	-	NC_000012.12:g.47992915G>A	TOPMed,gnomAD
rs757091184	p.Glu331Gly	missense variant	-	NC_000012.12:g.47992909T>C	ExAC,TOPMed,gnomAD
rs372264296	p.Arg334Trp	missense variant	-	NC_000012.12:g.47992901G>A	ESP,ExAC,TOPMed,gnomAD
rs765231668	p.Arg334Gln	missense variant	-	NC_000012.12:g.47992900C>T	ExAC,TOPMed,gnomAD
rs755043901	p.Thr335Ser	missense variant	-	NC_000012.12:g.47992897G>C	ExAC,TOPMed,gnomAD
rs755043901	p.Thr335Ile	missense variant	-	NC_000012.12:g.47992897G>A	ExAC,TOPMed,gnomAD
RCV000317732	p.Thr335Ser	missense variant	Type II Collagenopathies	NC_000012.12:g.47992897G>C	ClinVar
RCV000372472	p.Thr335Ser	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47992897G>C	ClinVar
rs766485093	p.Pro337Ser	missense variant	-	NC_000012.12:g.47992892G>A	ExAC,gnomAD
rs773412941	p.Ala338Pro	missense variant	-	NC_000012.12:g.47992889C>G	ExAC,gnomAD
rs762355724	p.Ala340Thr	missense variant	-	NC_000012.12:g.47992883C>T	ExAC,TOPMed,gnomAD
rs1464610512	p.Ala341Ser	missense variant	-	NC_000012.12:g.47992880C>A	gnomAD
rs368068067	p.Ala341Val	missense variant	-	NC_000012.12:g.47992879G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly342Ala	missense variant	-	NC_000012.12:g.47989804C>G	NCI-TCGA
rs1315554899	p.Arg344Gln	missense variant	-	NC_000012.12:g.47989798C>T	gnomAD
RCV000760401	p.Arg344Ter	nonsense	-	NC_000012.12:g.47989799G>A	ClinVar
rs758295439	p.Gly345Ser	missense variant	-	NC_000012.12:g.47989796C>T	ExAC,gnomAD
rs1316504411	p.Asn346Ser	missense variant	-	NC_000012.12:g.47989792T>C	TOPMed
rs547224514	p.Asp347Asn	missense variant	-	NC_000012.12:g.47989790C>T	1000Genomes,ExAC,gnomAD
COSM693811	p.Asp347Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47989789T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly348Cys	missense variant	-	NC_000012.12:g.47989787C>A	NCI-TCGA
rs779942376	p.Gln349Glu	missense variant	-	NC_000012.12:g.47989784G>C	ExAC,gnomAD
rs886049448	p.Pro350Leu	missense variant	-	NC_000012.12:g.47989780G>A	-
RCV000262592	p.Pro350Leu	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47989780G>A	ClinVar
RCV000375862	p.Pro350Leu	missense variant	Type II Collagenopathies	NC_000012.12:g.47989780G>A	ClinVar
rs1438029595	p.Gly351Ser	missense variant	-	NC_000012.12:g.47989778C>T	gnomAD
RCV000175162	p.Gly351Ter	frameshift	-	NC_000012.12:g.47989778del	ClinVar
rs1294094764	p.Pro352Leu	missense variant	-	NC_000012.12:g.47989774G>A	TOPMed,gnomAD
rs781554389	p.Ala353Thr	missense variant	-	NC_000012.12:g.47989772C>T	ExAC,gnomAD
RCV000175163	p.Ala353Ter	frameshift	-	NC_000012.12:g.47989776del	ClinVar
rs781554389	p.Ala353Ser	missense variant	-	NC_000012.12:g.47989772C>A	ExAC,gnomAD
rs121912871	p.Gly354Arg	missense variant	-	NC_000012.12:g.47989769C>T	UniProt,dbSNP
VAR_001742	p.Gly354Arg	missense variant	-	NC_000012.12:g.47989769C>T	UniProt
rs121912871	p.Gly354Arg	missense variant	-	NC_000012.12:g.47989769C>T	-
rs1555167847	p.Gly354Val	missense variant	-	NC_000012.12:g.47989768C>A	-
RCV000624737	p.Gly354Val	missense variant	Inborn genetic diseases	NC_000012.12:g.47989768C>A	ClinVar
RCV000018907	p.Gly354Arg	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47989769C>T	ClinVar
rs184529965	p.Pro356Leu	missense variant	-	NC_000012.12:g.47989762G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1423486005	p.Gly357Ser	missense variant	-	NC_000012.12:g.47989281C>T	gnomAD
rs1194991685	p.Gly357Asp	missense variant	-	NC_000012.12:g.47989280C>T	gnomAD
RCV000330199	p.Pro358Ter	frameshift	-	NC_000012.12:g.47989279del	ClinVar
rs563519202	p.Val359Ile	missense variant	-	NC_000012.12:g.47989275C>T	1000Genomes,ExAC,gnomAD
rs563519202	p.Val359Phe	missense variant	-	NC_000012.12:g.47989275C>A	1000Genomes,ExAC,gnomAD
rs757504416	p.Gly360Ser	missense variant	-	NC_000012.12:g.47989272C>T	ExAC,TOPMed,gnomAD
rs1256087032	p.Ala362Val	missense variant	-	NC_000012.12:g.47989265G>A	gnomAD
rs751843693	p.Gly363Asp	missense variant	-	NC_000012.12:g.47989262C>T	ExAC,gnomAD
COSM939759	p.Phe367Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47989251A>C	NCI-TCGA Cosmic
rs1219147595	p.Pro368Leu	missense variant	-	NC_000012.12:g.47989247G>A	gnomAD
COSM3461279	p.Pro368Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47989248G>A	NCI-TCGA Cosmic
rs1085307657	p.Gly369Arg	missense variant	-	NC_000012.12:g.47989245C>G	-
RCV000490025	p.Gly369Arg	missense variant	-	NC_000012.12:g.47989245C>G	ClinVar
rs953972130	p.Ala370Val	missense variant	-	NC_000012.12:g.47989241G>A	TOPMed
rs953972130	p.Ala370Gly	missense variant	-	NC_000012.12:g.47989241G>C	TOPMed
rs1178508627	p.Pro371Ser	missense variant	-	NC_000012.12:g.47989239G>A	TOPMed
rs1555167783	p.Gly372Arg	missense variant	-	NC_000012.12:g.47989236C>T	-
RCV000259706	p.Gly372Glu	missense variant	-	NC_000012.12:g.47989235C>T	ClinVar
rs794727202	p.Gly372Glu	missense variant	-	NC_000012.12:g.47989235C>T	gnomAD
RCV000659390	p.Gly372Arg	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47989236C>T	ClinVar
rs1395676855	p.Ala373Thr	missense variant	-	NC_000012.12:g.47989233C>T	TOPMed,gnomAD
rs1395676855	p.Ala373Ser	missense variant	-	NC_000012.12:g.47989233C>A	TOPMed,gnomAD
rs1209142494	p.Gly375Ser	missense variant	-	NC_000012.12:g.47987709C>T	gnomAD
VAR_001743	p.Gly375Arg	Missense	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
rs1356859376	p.Glu376Lys	missense variant	-	NC_000012.12:g.47987706C>T	gnomAD
RCV000521575	p.Ala377Ser	missense variant	-	NC_000012.12:g.47987703C>A	ClinVar
rs1238250996	p.Ala377Val	missense variant	-	NC_000012.12:g.47987702G>A	gnomAD
rs1045330263	p.Ala377Ser	missense variant	-	NC_000012.12:g.47987703C>A	TOPMed,gnomAD
rs748511528	p.Thr380Ala	missense variant	-	NC_000012.12:g.47987694T>C	ExAC,gnomAD
rs1368832344	p.Gly381Ser	missense variant	-	NC_000012.12:g.47987691C>T	gnomAD
rs1323542030	p.Gly381Ala	missense variant	-	NC_000012.12:g.47987690C>G	gnomAD
rs1393423827	p.Ala382Asp	missense variant	-	NC_000012.12:g.47987687G>T	gnomAD
rs1387850231	p.Ala382Thr	missense variant	-	NC_000012.12:g.47987688C>T	TOPMed,gnomAD
rs1417502139	p.Arg383His	missense variant	-	NC_000012.12:g.47987684C>T	gnomAD
rs1287418521	p.Arg383Gly	missense variant	-	NC_000012.12:g.47987685G>C	gnomAD
rs1287418521	p.Arg383Cys	missense variant	-	NC_000012.12:g.47987685G>A	gnomAD
rs755466728	p.Ala388Thr	missense variant	-	NC_000012.12:g.47987670C>T	ExAC,gnomAD
rs1441045605	p.Gln389Leu	missense variant	-	NC_000012.12:g.47987666T>A	gnomAD
rs201953356	p.Arg392His	missense variant	-	NC_000012.12:g.47987657C>T	ExAC,TOPMed,gnomAD
rs1375414971	p.Arg392Cys	missense variant	-	NC_000012.12:g.47987658G>A	TOPMed,gnomAD
COSM6136899	p.Arg392Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987657C>A	NCI-TCGA Cosmic
rs1025202963	p.Gly393Ser	missense variant	-	NC_000012.12:g.47987655C>T	gnomAD
RCV000659391	p.Gly393Ser	missense variant	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47987655C>T	ClinVar
rs1488101815	p.Pro395Leu	missense variant	-	NC_000012.12:g.47987648G>A	gnomAD
rs755619830	p.Pro395Thr	missense variant	-	NC_000012.12:g.47987649G>T	ExAC,gnomAD
rs749993924	p.Thr397Ile	missense variant	-	NC_000012.12:g.47987642G>A	ExAC,gnomAD
rs1343036672	p.Ser400Tyr	missense variant	-	NC_000012.12:g.47987633G>T	gnomAD
rs1234615322	p.Pro401Ser	missense variant	-	NC_000012.12:g.47987631G>A	gnomAD
rs1056382493	p.Ala404Thr	missense variant	-	NC_000012.12:g.47987622C>T	TOPMed
RCV000175420	p.Gly405Ter	frameshift	-	NC_000012.12:g.47987619del	ClinVar
rs1165416342	p.Ala406Val	missense variant	-	NC_000012.12:g.47987615G>A	gnomAD
rs1187713792	p.Ala406Thr	missense variant	-	NC_000012.12:g.47987616C>T	TOPMed
rs1333279417	p.Ser407Phe	missense variant	-	NC_000012.12:g.47987612G>A	gnomAD
rs775473371	p.Asn409Ser	missense variant	-	NC_000012.12:g.47987309T>C	ExAC,gnomAD
rs570997824	p.Asn409Lys	missense variant	-	NC_000012.12:g.47987308G>T	1000Genomes,ExAC,gnomAD
rs759573039	p.Pro410Thr	missense variant	-	NC_000012.12:g.47987307G>T	ExAC,TOPMed,gnomAD
rs773291252	p.Pro410His	missense variant	-	NC_000012.12:g.47987306G>T	ExAC,gnomAD
rs773291252	p.Pro410Leu	missense variant	-	NC_000012.12:g.47987306G>A	ExAC,gnomAD
rs1235507797	p.Thr412Ala	missense variant	-	NC_000012.12:g.47987301T>C	TOPMed
rs1356048426	p.Asp413Asn	missense variant	-	NC_000012.12:g.47987298C>T	gnomAD
NCI-TCGA novel	p.Lys419Glu	missense variant	-	NC_000012.12:g.47987280T>C	NCI-TCGA
COSM415838	p.Ser421Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987273G>T	NCI-TCGA Cosmic
rs1555167449	p.Gly423Asp	missense variant	-	NC_000012.12:g.47987175C>T	-
RCV000521567	p.Gly423Asp	missense variant	-	NC_000012.12:g.47987175C>T	ClinVar
rs371650515	p.Pro425Leu	missense variant	-	NC_000012.12:g.47987169G>A	ESP,TOPMed,gnomAD
rs1247674624	p.Ile427Val	missense variant	-	NC_000012.12:g.47987164T>C	gnomAD
COSM693813	p.Gly432Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987148C>A	NCI-TCGA Cosmic
COSM4042183	p.Phe433Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987146A>C	NCI-TCGA Cosmic
RCV000599181	p.Phe433Ter	frameshift	-	NC_000012.12:g.47987142_47987145del	ClinVar
rs140985224	p.Pro434Ser	missense variant	-	NC_000012.12:g.47987143G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000723634	p.Pro434Ser	missense variant	-	NC_000012.12:g.47987143G>A	ClinVar
NCI-TCGA novel	p.Pro436Ser	missense variant	-	NC_000012.12:g.47987137G>A	NCI-TCGA
rs917659377	p.Arg437Trp	missense variant	-	NC_000012.12:g.47987134G>A	TOPMed,gnomAD
rs917659377	p.Arg437Gly	missense variant	-	NC_000012.12:g.47987134G>C	TOPMed,gnomAD
rs991837088	p.Arg437Gln	missense variant	-	NC_000012.12:g.47987133C>T	TOPMed,gnomAD
rs758071106	p.Pro439Ser	missense variant	-	NC_000012.12:g.47987128G>A	ExAC,gnomAD
rs1275252428	p.Pro439Leu	missense variant	-	NC_000012.12:g.47987127G>A	gnomAD
NCI-TCGA novel	p.Pro440SerPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47987129_47987130insC	NCI-TCGA
rs1064796332	p.Gly444Ser	missense variant	-	NC_000012.12:g.47987113C>T	-
RCV000483756	p.Gly444Ser	missense variant	-	NC_000012.12:g.47987113C>T	ClinVar
rs532077176	p.Thr446Ile	missense variant	-	NC_000012.12:g.47987106G>A	1000Genomes,ExAC,gnomAD
rs1297878387	p.Thr446Ala	missense variant	-	NC_000012.12:g.47987107T>C	TOPMed,gnomAD
rs886043561	p.Gly447Asp	missense variant	-	NC_000012.12:g.47987103C>T	-
RCV000284452	p.Gly447Asp	missense variant	-	NC_000012.12:g.47987103C>T	ClinVar
VAR_001744	p.Gly447Ser	Missense	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
rs923610032	p.Pro448Ser	missense variant	-	NC_000012.12:g.47987101G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly450Ser	missense variant	-	NC_000012.12:g.47987095C>T	NCI-TCGA
rs766208636	p.Pro451Leu	missense variant	-	NC_000012.12:g.47987091G>A	ExAC,gnomAD
rs766208636	p.Pro451Arg	missense variant	-	NC_000012.12:g.47987091G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro451Gln	missense variant	-	NC_000012.12:g.47987091G>T	NCI-TCGA
rs751554148	p.Lys452Thr	missense variant	-	NC_000012.12:g.47987088T>G	ExAC,gnomAD
rs794727339	p.Gly453Ala	missense variant	-	NC_000012.12:g.47987085C>G	-
RCV000755953	p.Gly453Asp	missense variant	-	NC_000012.12:g.47987085C>T	ClinVar
RCV000176186	p.Gly453Ala	missense variant	-	NC_000012.12:g.47987085C>G	ClinVar
VAR_017640	p.Gly453Val	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
VAR_017639	p.Gly453Asp	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COSM693815	p.Gln454Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47987083G>A	NCI-TCGA Cosmic
rs775754967	p.Thr455Met	missense variant	-	NC_000012.12:g.47987079G>A	ExAC,TOPMed,gnomAD
rs1555167372	p.Gly456Val	missense variant	-	NC_000012.12:g.47986887C>A	-
RCV000506133	p.Gly456Val	missense variant	-	NC_000012.12:g.47986887C>A	ClinVar
NCI-TCGA novel	p.Gly456Ser	missense variant	-	NC_000012.12:g.47986888C>T	NCI-TCGA
rs1555167368	p.Glu457Ter	stop gained	-	NC_000012.12:g.47986885C>A	-
RCV000579316	p.Glu457Ter	nonsense	-	NC_000012.12:g.47986885C>A	ClinVar
rs764095772	p.Pro458Ser	missense variant	-	NC_000012.12:g.47986882G>A	ExAC,gnomAD
rs1206699679	p.Ile460Thr	missense variant	-	NC_000012.12:g.47986875A>G	TOPMed
rs758457623	p.Ala461Pro	missense variant	-	NC_000012.12:g.47986873C>G	ExAC,TOPMed,gnomAD
rs765413831	p.Gln467Arg	missense variant	-	NC_000012.12:g.47986854T>C	ExAC,TOPMed,gnomAD
RCV000760602	p.Gln467Ter	nonsense	-	NC_000012.12:g.47986855G>A	ClinVar
rs759832643	p.Pro469Leu	missense variant	-	NC_000012.12:g.47986848G>A	ExAC,gnomAD
rs766776002	p.Lys470Arg	missense variant	-	NC_000012.12:g.47986845T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu472Lys	missense variant	-	NC_000012.12:g.47986840C>T	NCI-TCGA
rs1393637578	p.Pro475Leu	missense variant	-	NC_000012.12:g.47986439G>A	gnomAD
rs757226164	p.Pro475Thr	missense variant	-	NC_000012.12:g.47986440G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala476Thr	missense variant	-	NC_000012.12:g.47986437C>T	NCI-TCGA
rs1293240591	p.Pro478Ser	missense variant	-	NC_000012.12:g.47986431G>A	gnomAD
rs201823490	p.Pro478Leu	missense variant	-	NC_000012.12:g.47986430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000176388	p.Pro478Leu	missense variant	-	NC_000012.12:g.47986430G>A	ClinVar
COSM300463	p.Gln479ArgPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47986428G>-	NCI-TCGA Cosmic
rs1365771563	p.Ala481Ser	missense variant	-	NC_000012.12:g.47986422C>A	gnomAD
rs1437336337	p.Pro484Ser	missense variant	-	NC_000012.12:g.47986413G>A	TOPMed,gnomAD
rs1379138676	p.Pro484His	missense variant	-	NC_000012.12:g.47986412G>T	gnomAD
rs556023617	p.Ala485Ser	missense variant	-	NC_000012.12:g.47986410C>A	TOPMed,gnomAD
rs556023617	p.Ala485Thr	missense variant	-	NC_000012.12:g.47986410C>T	TOPMed,gnomAD
RCV000506554	p.Ala485Thr	missense variant	-	NC_000012.12:g.47986410C>T	ClinVar
rs1265020727	p.Glu487Lys	missense variant	-	NC_000012.12:g.47986404C>T	TOPMed,gnomAD
rs754092365	p.Glu488Asp	missense variant	-	NC_000012.12:g.47986399T>G	ExAC,TOPMed,gnomAD
rs1490442905	p.Lys490Asn	missense variant	-	NC_000012.12:g.47986393C>G	gnomAD
rs865942601	p.Arg491Lys	missense variant	-	NC_000012.12:g.47986391C>T	gnomAD
rs865942601	p.Arg491Ile	missense variant	-	NC_000012.12:g.47986391C>A	gnomAD
rs121912881	p.Gly492Val	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986388C>A	UniProt,dbSNP
VAR_001745	p.Gly492Val	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986388C>A	UniProt
rs121912881	p.Gly492Val	missense variant	-	NC_000012.12:g.47986388C>A	-
RCV000018921	p.Gly492Val	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47986388C>A	ClinVar
rs1214708182	p.Ala493Val	missense variant	-	NC_000012.12:g.47986385G>A	gnomAD
rs766574999	p.Arg494Pro	missense variant	-	NC_000012.12:g.47986382C>G	ExAC,TOPMed,gnomAD
rs766574999	p.Arg494His	missense variant	-	NC_000012.12:g.47986382C>T	ExAC,TOPMed,gnomAD
rs1353156898	p.Arg494Cys	missense variant	-	NC_000012.12:g.47986383G>A	gnomAD
rs1241820517	p.Gly495Arg	missense variant	-	NC_000012.12:g.47986380C>T	gnomAD
rs1329803286	p.Glu496Gln	missense variant	-	NC_000012.12:g.47986377C>G	TOPMed,gnomAD
rs761089754	p.Pro497Arg	missense variant	-	NC_000012.12:g.47986373G>C	ExAC,gnomAD
rs1320649776	p.Gly499Asp	missense variant	-	NC_000012.12:g.47986367C>T	TOPMed
rs1304647590	p.Gly499Ser	missense variant	-	NC_000012.12:g.47986368C>T	gnomAD
rs768110640	p.Val500Phe	missense variant	-	NC_000012.12:g.47986365C>A	ExAC,TOPMed,gnomAD
RCV000312447	p.Val500Ile	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47986365C>T	ClinVar
RCV000349004	p.Val500Ile	missense variant	Type II Collagenopathies	NC_000012.12:g.47986365C>T	ClinVar
rs768110640	p.Val500Ile	missense variant	-	NC_000012.12:g.47986365C>T	ExAC,TOPMed,gnomAD
rs1455304547	p.Gly501Glu	missense variant	-	NC_000012.12:g.47986361C>T	gnomAD
VAR_063896	p.Gly501Arg	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
rs904660062	p.Pro502Leu	missense variant	-	NC_000012.12:g.47986358G>A	TOPMed,gnomAD
rs121912880	p.Gly504Ser	missense variant	-	NC_000012.12:g.47986353C>T	gnomAD
RCV000018920	p.Gly504Cys	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47986353C>A	ClinVar
RCV000176384	p.Gly504Ser	missense variant	-	NC_000012.12:g.47986353C>T	ClinVar
rs121912880	p.Gly504Cys	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986353C>A	UniProt,dbSNP
VAR_001746	p.Gly504Cys	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986353C>A	UniProt
rs121912880	p.Gly504Cys	missense variant	-	NC_000012.12:g.47986353C>A	gnomAD
RCV000622876	p.Gly504Ser	missense variant	Inborn genetic diseases	NC_000012.12:g.47986353C>T	ClinVar
RCV000380315	p.Gly504Cys	missense variant	-	NC_000012.12:g.47986353C>A	ClinVar
rs865903887	p.Pro505Ser	missense variant	-	NC_000012.12:g.47986350G>A	gnomAD
rs865903887	p.Pro505Thr	missense variant	-	NC_000012.12:g.47986350G>T	gnomAD
RCV000781310	p.Gly507Glu	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47986343C>T	ClinVar
rs768225873	p.Glu508Gly	missense variant	-	NC_000012.12:g.47986340T>C	ExAC,TOPMed,gnomAD
rs1555167157	p.Gly510Cys	missense variant	-	NC_000012.12:g.47985965C>A	-
RCV000623786	p.Gly510Cys	missense variant	Inborn genetic diseases	NC_000012.12:g.47985965C>A	ClinVar
VAR_001747	p.Gly510Asp	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1444149100	p.Pro512Ser	missense variant	-	NC_000012.12:g.47985959G>A	TOPMed
rs1555167156	p.Gly513Ser	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985956C>T	UniProt,dbSNP
VAR_024819	p.Gly513Ser	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985956C>T	UniProt
rs1555167156	p.Gly513Ser	missense variant	-	NC_000012.12:g.47985956C>T	-
RCV000508041	p.Gly513Ser	missense variant	-	NC_000012.12:g.47985956C>T	ClinVar
rs1326204674	p.Arg515His	missense variant	-	NC_000012.12:g.47985949C>T	TOPMed,gnomAD
rs886043589	p.Arg515Cys	missense variant	-	NC_000012.12:g.47985950G>A	-
RCV000332539	p.Arg515Cys	missense variant	-	NC_000012.12:g.47985950G>A	ClinVar
rs121912888	p.Gly516Asp	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985946C>T	UniProt,dbSNP
VAR_023926	p.Gly516Asp	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985946C>T	UniProt
rs121912888	p.Gly516Asp	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47985946C>T	-
rs886041895	p.Gly516Ser	missense variant	-	NC_000012.12:g.47985947C>T	-
RCV000274274	p.Gly516Ser	missense variant	-	NC_000012.12:g.47985947C>T	ClinVar
RCV000022481	p.Gly516Asp	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47985946C>T	ClinVar
rs1340468176	p.Gly519Ser	missense variant	-	NC_000012.12:g.47985938C>T	gnomAD
rs1555167139	p.Gly519Asp	missense variant	-	NC_000012.12:g.47985937C>T	-
RCV000659393	p.Gly519Asp	missense variant	Connective tissue disorder	NC_000012.12:g.47985937C>T	ClinVar
RCV000599434	p.Gly519Ter	frameshift	-	NC_000012.12:g.47985938del	ClinVar
rs1270468512	p.Asp521Asn	missense variant	-	NC_000012.12:g.47985932C>T	gnomAD
rs1229151053	p.Pro526Arg	missense variant	-	NC_000012.12:g.47985916G>C	gnomAD
rs777145676	p.Lys527Glu	missense variant	-	NC_000012.12:g.47985914T>C	TOPMed,gnomAD
rs370407502	p.Ala529Asp	missense variant	-	NC_000012.12:g.47985822G>T	ESP,TOPMed,gnomAD
rs762501353	p.Ala529Ser	missense variant	-	NC_000012.12:g.47985823C>A	ExAC,gnomAD
rs868084415	p.Pro530Ser	missense variant	-	NC_000012.12:g.47985820G>A	gnomAD
rs774901867	p.Glu532Asp	missense variant	-	NC_000012.12:g.47985812C>A	ExAC,TOPMed,gnomAD
rs1354905061	p.Glu532Lys	missense variant	-	NC_000012.12:g.47985814C>T	gnomAD
rs1330572171	p.Glu532Gly	missense variant	-	NC_000012.12:g.47985813T>C	gnomAD
rs1085307608	p.Arg533Ter	stop gained	-	NC_000012.12:g.47985811G>A	gnomAD
rs769447809	p.Arg533Gln	missense variant	-	NC_000012.12:g.47985810C>T	ExAC,gnomAD
RCV000489991	p.Arg533Ter	nonsense	-	NC_000012.12:g.47985811G>A	ClinVar
rs1378544658	p.Ala539Val	missense variant	-	NC_000012.12:g.47985792G>A	gnomAD
rs1234981833	p.Pro541Leu	missense variant	-	NC_000012.12:g.47985786G>A	gnomAD
NCI-TCGA novel	p.Pro541Arg	missense variant	-	NC_000012.12:g.47985786G>C	NCI-TCGA
rs746870475	p.Ala544Thr	missense variant	-	NC_000012.12:g.47985778C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala544Gly	missense variant	-	NC_000012.12:g.47985777G>C	NCI-TCGA
rs141321284	p.Asn545Lys	missense variant	-	NC_000012.12:g.47985773G>T	ESP,ExAC,TOPMed,gnomAD
rs145042175	p.Asn545Ser	missense variant	-	NC_000012.12:g.47985774T>C	ESP,ExAC,TOPMed,gnomAD
RCV000278404	p.Asn545Ser	missense variant	Type II Collagenopathies	NC_000012.12:g.47985774T>C	ClinVar
RCV000373035	p.Asn545Ser	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47985774T>C	ClinVar
RCV000322902	p.Asn545Ser	missense variant	-	NC_000012.12:g.47985774T>C	ClinVar
rs886044555	p.Gly546Ser	missense variant	-	NC_000012.12:g.47985772C>T	-
RCV000489443	p.Gly546Ser	missense variant	-	NC_000012.12:g.47985772C>T	ClinVar
RCV000022483	p.Gly546Val	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47985771C>A	ClinVar
rs121912899	p.Gly546Val	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47985771C>A	-
VAR_063897	p.Asp547Val	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1555167091	p.Arg550Cys	missense variant	-	NC_000012.12:g.47985760G>A	-
rs186233557	p.Arg550Leu	missense variant	-	NC_000012.12:g.47985759C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs186233557	p.Arg550His	missense variant	-	NC_000012.12:g.47985759C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000657960	p.Arg550Cys	missense variant	-	NC_000012.12:g.47985760G>A	ClinVar
RCV000254258	p.Arg550Leu	missense variant	-	NC_000012.12:g.47985759C>A	ClinVar
rs1373907168	p.Pro551His	missense variant	-	NC_000012.12:g.47985756G>T	gnomAD
COSM3461275	p.Pro551Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985757G>A	NCI-TCGA Cosmic
rs750687761	p.Pro554Thr	missense variant	-	NC_000012.12:g.47985748G>T	ExAC,gnomAD
rs781636320	p.Pro554Leu	missense variant	-	NC_000012.12:g.47985747G>A	ExAC,TOPMed,gnomAD
rs866981761	p.Pro557Leu	missense variant	-	NC_000012.12:g.47985738G>A	TOPMed,gnomAD
COSM3461273	p.Pro557Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985739G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro557Thr	missense variant	-	NC_000012.12:g.47985739G>T	NCI-TCGA
COSM3461271	p.Gly558Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985736C>T	NCI-TCGA Cosmic
rs1424853323	p.Ala559Ser	missense variant	-	NC_000012.12:g.47985733C>A	TOPMed
rs1186241291	p.Arg560Pro	missense variant	-	NC_000012.12:g.47985729C>G	TOPMed
rs757693116	p.Arg560Trp	missense variant	-	NC_000012.12:g.47985730G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg560Gln	missense variant	-	NC_000012.12:g.47985729C>T	NCI-TCGA
NCI-TCGA novel	p.Gly564Cys	missense variant	-	NC_000012.12:g.47985578C>A	NCI-TCGA
rs121912884	p.Arg565Cys	missense variant	-	NC_000012.12:g.47985575G>A	TOPMed
rs372182200	p.Arg565Leu	missense variant	-	NC_000012.12:g.47985574C>A	ESP,ExAC,TOPMed,gnomAD
rs372182200	p.Arg565His	missense variant	-	NC_000012.12:g.47985574C>T	ESP,ExAC,TOPMed,gnomAD
RCV000413561	p.Arg565Cys	missense variant	-	NC_000012.12:g.47985575G>A	ClinVar
rs121912884	p.Arg565Cys	missense variant	Stickler syndrome 1 (STL1)	NC_000012.12:g.47985575G>A	UniProt,dbSNP
VAR_023927	p.Arg565Cys	missense variant	Stickler syndrome 1 (STL1)	NC_000012.12:g.47985575G>A	UniProt
rs1064797167	p.Gly570Arg	missense variant	-	NC_000012.12:g.47985560C>G	-
RCV000487933	p.Gly570Arg	missense variant	-	NC_000012.12:g.47985560C>G	ClinVar
RCV000484169	p.Pro571Ter	frameshift	-	NC_000012.12:g.47985560dup	ClinVar
RCV000755952	p.Gly573Ser	missense variant	-	NC_000012.12:g.47985551C>T	ClinVar
rs886042741	p.Gly573Arg	missense variant	-	NC_000012.12:g.47985551C>G	-
RCV000334874	p.Gly573Arg	missense variant	-	NC_000012.12:g.47985551C>G	ClinVar
COSM6136901	p.Gly576Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985542C>T	NCI-TCGA Cosmic
rs1437402366	p.Pro577Ser	missense variant	-	NC_000012.12:g.47985539G>A	TOPMed
rs1243275050	p.Ser578Pro	missense variant	-	NC_000012.12:g.47985536A>G	TOPMed,gnomAD
rs1243275050	p.Ser578Ala	missense variant	-	NC_000012.12:g.47985536A>C	TOPMed,gnomAD
rs146604807	p.Ala580Ser	missense variant	-	NC_000012.12:g.47985090C>A	ESP,ExAC,TOPMed,gnomAD
rs371440147	p.Arg586Pro	missense variant	-	NC_000012.12:g.47985071C>G	1000Genomes,ESP,ExAC,gnomAD
rs753308111	p.Arg586Cys	missense variant	-	NC_000012.12:g.47985072G>A	ExAC,gnomAD
rs371440147	p.Arg586His	missense variant	-	NC_000012.12:g.47985071C>T	1000Genomes,ESP,ExAC,gnomAD
rs767270700	p.Pro587Arg	missense variant	-	NC_000012.12:g.47985068G>C	ExAC
rs750049178	p.Pro587Ser	missense variant	-	NC_000012.12:g.47985069G>A	ExAC,gnomAD
rs1385306918	p.Pro589Ala	missense variant	-	NC_000012.12:g.47985063G>C	gnomAD
rs751452433	p.Pro590Leu	missense variant	-	NC_000012.12:g.47985059G>A	ExAC,TOPMed,gnomAD
rs886043712	p.Gly591Arg	missense variant	-	NC_000012.12:g.47985057C>G	-
RCV000271173	p.Gly591Arg	missense variant	-	NC_000012.12:g.47985057C>G	ClinVar
COSM4042177	p.Gln593His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985049C>A	NCI-TCGA Cosmic
RCV000433038	p.Arg596His	missense variant	-	NC_000012.12:g.47985041C>T	ClinVar
rs1057524199	p.Arg596His	missense variant	-	NC_000012.12:g.47985041C>T	TOPMed,gnomAD
rs144413189	p.Gln598His	missense variant	-	NC_000012.12:g.47985034C>A	ESP
rs367600621	p.Pro599Ser	missense variant	-	NC_000012.12:g.47985033G>A	ESP,ExAC,gnomAD
rs794727438	p.Gly600Val	missense variant	-	NC_000012.12:g.47985029C>A	-
RCV000176730	p.Gly600Val	missense variant	-	NC_000012.12:g.47985029C>A	ClinVar
rs886043814	p.Val601Ala	missense variant	-	NC_000012.12:g.47985026A>G	-
RCV000341487	p.Val601Ala	missense variant	-	NC_000012.12:g.47985026A>G	ClinVar
rs886041945	p.Gly606Arg	missense variant	-	NC_000012.12:g.47985012C>G	-
RCV000317249	p.Gly606Arg	missense variant	-	NC_000012.12:g.47985012C>G	ClinVar
rs763003390	p.Pro607Ser	missense variant	-	NC_000012.12:g.47985009G>A	ExAC,gnomAD
rs140580674	p.Gly609Ala	missense variant	-	NC_000012.12:g.47985002C>G	ESP,ExAC,TOPMed
rs1293965789	p.Ala610Asp	missense variant	-	NC_000012.12:g.47984999G>T	gnomAD
rs142492439	p.Asn611Thr	missense variant	-	NC_000012.12:g.47984996T>G	ESP,TOPMed,gnomAD
rs142492439	p.Asn611Ser	missense variant	-	NC_000012.12:g.47984996T>C	ESP,TOPMed,gnomAD
rs765275917	p.Glu613Lys	missense variant	-	NC_000012.12:g.47984596C>T	ExAC,gnomAD
rs1001585299	p.Lys616Asn	missense variant	-	NC_000012.12:g.47984585T>G	TOPMed
rs760648920	p.Ala617Val	missense variant	-	NC_000012.12:g.47984583G>A	ExAC,gnomAD
rs1480620991	p.Gly618Ala	missense variant	-	NC_000012.12:g.47984580C>G	gnomAD
rs1191287105	p.Glu619Asp	missense variant	-	NC_000012.12:g.47984576C>A	gnomAD
rs1431778644	p.Glu619Lys	missense variant	-	NC_000012.12:g.47984578C>T	TOPMed,gnomAD
RCV000176855	p.Gly621Arg	missense variant	-	NC_000012.12:g.47984572C>T	ClinVar
rs794727462	p.Gly621Arg	missense variant	-	NC_000012.12:g.47984572C>T	-
NCI-TCGA novel	p.Gly621Val	missense variant	-	NC_000012.12:g.47984571C>A	NCI-TCGA
NCI-TCGA novel	p.Pro623Thr	missense variant	-	NC_000012.12:g.47984566G>T	NCI-TCGA
rs1326550771	p.Gly630Cys	missense variant	-	NC_000012.12:g.47984140C>A	gnomAD
COSM3461267	p.Pro632Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47984134G>A	NCI-TCGA Cosmic
rs1555166826	p.Gly633Ser	missense variant	-	NC_000012.12:g.47984131C>T	-
RCV000521936	p.Gly633Ser	missense variant	-	NC_000012.12:g.47984131C>T	ClinVar
rs1397534624	p.Asp635His	missense variant	-	NC_000012.12:g.47984125C>G	gnomAD
rs1169850038	p.Gly636Ser	missense variant	-	NC_000012.12:g.47984122C>T	gnomAD
rs756066656	p.Glu637Asp	missense variant	-	NC_000012.12:g.47984117C>A	ExAC,gnomAD
rs41263847	p.Thr638Lys	missense variant	-	NC_000012.12:g.47984115G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41263847	p.Thr638Ile	missense variant	-	NC_000012.12:g.47984115G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41263847	p.Thr638Ile	missense variant	-	NC_000012.12:g.47984115G>A	UniProt,dbSNP
VAR_033783	p.Thr638Ile	missense variant	-	NC_000012.12:g.47984115G>A	UniProt
RCV000328788	p.Thr638Ile	missense variant	Type II Collagenopathies	NC_000012.12:g.47984115G>A	ClinVar
RCV000364743	p.Thr638Ile	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47984115G>A	ClinVar
rs1057518908	p.Gly639Asp	missense variant	-	NC_000012.12:g.47984112C>T	-
rs1446915103	p.Gly639Ser	missense variant	-	NC_000012.12:g.47984113C>T	gnomAD
RCV000415092	p.Gly639Asp	missense variant	Hip dysplasia	NC_000012.12:g.47984112C>T	ClinVar
rs1231556901	p.Ala640Val	missense variant	-	NC_000012.12:g.47984109G>A	gnomAD
rs794727472	p.Gly642Ter	stop gained	-	NC_000012.12:g.47984104C>A	gnomAD
rs794727472	p.Gly642Arg	missense variant	-	NC_000012.12:g.47984104C>T	gnomAD
RCV000176926	p.Gly642Ter	nonsense	-	NC_000012.12:g.47984104C>A	ClinVar
RCV000430070	p.Gly642Val	missense variant	-	NC_000012.12:g.47984103C>A	ClinVar
rs1057524602	p.Gly642Val	missense variant	-	NC_000012.12:g.47984103C>A	-
rs1273339342	p.Pro643Leu	missense variant	-	NC_000012.12:g.47984100G>A	TOPMed,gnomAD
rs1438725736	p.Pro643Thr	missense variant	-	NC_000012.12:g.47984101G>T	gnomAD
rs1273339342	p.Pro643His	missense variant	-	NC_000012.12:g.47984100G>T	TOPMed,gnomAD
rs758164899	p.Ala647Thr	missense variant	-	NC_000012.12:g.47984089C>T	ExAC,gnomAD
COSM6136907	p.Ala647Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47984089C>G	NCI-TCGA Cosmic
rs1489214279	p.Gly648Glu	missense variant	-	NC_000012.12:g.47983735C>T	gnomAD
rs771799983	p.Pro649Thr	missense variant	-	NC_000012.12:g.47983733G>T	ExAC,gnomAD
rs1447463543	p.Gly651Asp	missense variant	-	NC_000012.12:g.47983726C>T	gnomAD
rs1269822903	p.Glu652Lys	missense variant	-	NC_000012.12:g.47983724C>T	gnomAD
rs121912893	p.Arg653Ter	stop gained	-	NC_000012.12:g.47983721G>A	gnomAD
rs1131691824	p.Arg653Gln	missense variant	-	NC_000012.12:g.47983720C>T	-
RCV000481275	p.Arg653Ter	nonsense	-	NC_000012.12:g.47983721G>A	ClinVar
RCV000762896	p.Arg653Ter	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983721G>A	ClinVar
RCV000018939	p.Arg653Ter	nonsense	Rhegmatogenous retinal detachment, autosomal dominant (DRRD)	NC_000012.12:g.47983721G>A	ClinVar
RCV000494109	p.Arg653Gln	missense variant	-	NC_000012.12:g.47983720C>T	ClinVar
RCV000018938	p.Arg653Ter	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983721G>A	ClinVar
rs1322543333	p.Gly654Ser	missense variant	-	NC_000012.12:g.47983718C>T	gnomAD
rs1284239090	p.Gly654Asp	missense variant	-	NC_000012.12:g.47983717C>T	gnomAD
rs1359971369	p.Glu655Lys	missense variant	-	NC_000012.12:g.47983715C>T	TOPMed,gnomAD
rs1269619781	p.Gly657Ser	missense variant	-	NC_000012.12:g.47983709C>T	gnomAD
rs1432147280	p.Ala658Val	missense variant	-	NC_000012.12:g.47983705G>A	gnomAD
rs747852608	p.Pro659Ser	missense variant	-	NC_000012.12:g.47983703G>A	ExAC,TOPMed,gnomAD
rs1555166729	p.Gly660Glu	missense variant	-	NC_000012.12:g.47983699C>T	-
rs1335293158	p.Gly660Arg	missense variant	-	NC_000012.12:g.47983700C>T	gnomAD
RCV000578377	p.Gly660Glu	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47983699C>T	ClinVar
NCI-TCGA novel	p.Ser662Tyr	missense variant	-	NC_000012.12:g.47983693G>T	NCI-TCGA
rs774039842	p.Gly666Glu	missense variant	-	NC_000012.12:g.47983437C>T	ExAC,gnomAD
rs121912885	p.Leu667Ile	missense variant	-	NC_000012.12:g.47983435G>T	ExAC,TOPMed,gnomAD
rs121912885	p.Leu667Phe	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47983435G>A	UniProt,dbSNP
VAR_023928	p.Leu667Phe	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47983435G>A	UniProt
rs121912885	p.Leu667Phe	missense variant	-	NC_000012.12:g.47983435G>A	ExAC,TOPMed,gnomAD
RCV000144727	p.Leu667Phe	missense variant	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983435G>A	ClinVar
RCV000018927	p.Leu667Phe	missense variant	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.47983435G>A	ClinVar
rs1259744514	p.Pro668Leu	missense variant	-	NC_000012.12:g.47983431G>A	TOPMed
NCI-TCGA novel	p.Pro668Ser	missense variant	-	NC_000012.12:g.47983432G>A	NCI-TCGA
rs779859256	p.Pro671Leu	missense variant	-	NC_000012.12:g.47983422G>A	ExAC,gnomAD
rs794727546	p.Gly672Ala	missense variant	-	NC_000012.12:g.47983419C>G	-
RCV000290485	p.Gly672Ala	missense variant	-	NC_000012.12:g.47983419C>G	ClinVar
rs570533789	p.Pro673Leu	missense variant	-	NC_000012.12:g.47983416G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro673Ser	missense variant	-	NC_000012.12:g.47983417G>A	NCI-TCGA
rs781170462	p.Pro674Thr	missense variant	-	NC_000012.12:g.47983414G>T	ExAC
rs1423422339	p.Gly675Arg	missense variant	-	NC_000012.12:g.47983411C>G	gnomAD
RCV000770981	p.Gly675Asp	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47983410C>T	ClinVar
RCV000735218	p.Lys679Ter	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983399T>A	ClinVar
rs41263851	p.Asp682Glu	missense variant	-	NC_000012.12:g.47983388G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1003758989	p.Gln683Lys	missense variant	-	NC_000012.12:g.47983387G>T	-
RCV000523152	p.Gln683Lys	missense variant	-	NC_000012.12:g.47983387G>T	ClinVar
rs1231988113	p.Gly684Cys	missense variant	-	NC_000012.12:g.47983137C>A	gnomAD
rs1331195100	p.Pro686Thr	missense variant	-	NC_000012.12:g.47983131G>T	gnomAD
rs750867405	p.Glu688Gly	missense variant	-	NC_000012.12:g.47983124T>C	ExAC,TOPMed,gnomAD
COSM3461265	p.Glu688Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47983125C>T	NCI-TCGA Cosmic
rs1321119554	p.Gly690Arg	missense variant	-	NC_000012.12:g.47983119C>T	gnomAD
NCI-TCGA novel	p.Gly690Ter	stop gained	-	NC_000012.12:g.47983119C>A	NCI-TCGA
rs1250885285	p.Ala691Thr	missense variant	-	NC_000012.12:g.47983116C>T	TOPMed
rs1025771975	p.Ala691Asp	missense variant	-	NC_000012.12:g.47983115G>T	TOPMed,gnomAD
rs1025771975	p.Ala691Val	missense variant	-	NC_000012.12:g.47983115G>A	TOPMed,gnomAD
rs745752830	p.Pro692Ser	missense variant	-	NC_000012.12:g.47983113G>A	gnomAD
rs751036439	p.Val695Met	missense variant	-	NC_000012.12:g.47983104C>T	ExAC,TOPMed,gnomAD
RCV000761824	p.Val695Met	missense variant	-	NC_000012.12:g.47983104C>T	ClinVar
rs140410261	p.Val695Ala	missense variant	-	NC_000012.12:g.47983103A>G	ESP,ExAC,gnomAD
rs1444421467	p.Arg698Lys	missense variant	-	NC_000012.12:g.47983094C>T	TOPMed
rs781555326	p.Arg701Gln	missense variant	-	NC_000012.12:g.47982939C>T	ExAC
rs1555166555	p.Arg701Ter	stop gained	-	NC_000012.12:g.47982940G>A	-
RCV000522045	p.Arg701Ter	nonsense	-	NC_000012.12:g.47982940G>A	ClinVar
NCI-TCGA novel	p.Pro704Ser	missense variant	-	NC_000012.12:g.47982931G>A	NCI-TCGA
NCI-TCGA novel	p.Gly705Cys	missense variant	-	NC_000012.12:g.47982928C>A	NCI-TCGA
rs1327107907	p.Glu706Ala	missense variant	-	NC_000012.12:g.47982924T>G	gnomAD
rs1409377649	p.Arg707Cys	missense variant	-	NC_000012.12:g.47982922G>A	gnomAD
rs982272166	p.Arg707His	missense variant	-	NC_000012.12:g.47982921C>T	TOPMed,gnomAD
rs771198337	p.Ser709Phe	missense variant	-	NC_000012.12:g.47982915G>A	ExAC,gnomAD
rs747446924	p.Pro710Leu	missense variant	-	NC_000012.12:g.47982912G>A	ExAC,gnomAD
rs1385214650	p.Pro710Ser	missense variant	-	NC_000012.12:g.47982913G>A	gnomAD
rs1362360030	p.Gly711Ser	missense variant	-	NC_000012.12:g.47982910C>T	gnomAD
COSM939753	p.Ala712Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982906G>A	NCI-TCGA Cosmic
rs1555166537	p.Gly714Asp	missense variant	-	NC_000012.12:g.47982900C>T	-
RCV000506248	p.Gly714Asp	missense variant	-	NC_000012.12:g.47982900C>T	ClinVar
rs1482498887	p.Leu715Phe	missense variant	-	NC_000012.12:g.47982898G>A	TOPMed,gnomAD
RCV000593043	p.Leu715Phe	missense variant	-	NC_000012.12:g.47982898G>A	ClinVar
rs1252045461	p.Gln716Arg	missense variant	-	NC_000012.12:g.47982894T>C	TOPMed,gnomAD
rs387906558	p.Gly717Ser	missense variant	Avascular necrosis of femoral head, primary, 1 (ANFH1)	NC_000012.12:g.47982892C>T	UniProt,dbSNP
VAR_023929	p.Gly717Ser	missense variant	Avascular necrosis of femoral head, primary, 1 (ANFH1)	NC_000012.12:g.47982892C>T	UniProt
rs387906558	p.Gly717Ser	missense variant	-	NC_000012.12:g.47982892C>T	-
RCV000018937	p.Gly717Ser	missense variant	Avascular necrosis of the head of femur (ANFH1)	NC_000012.12:g.47982892C>T	ClinVar
VAR_024820	p.Gly717Val	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs121912865	p.Arg719Cys	missense variant	Osteoarthritis with mild chondrodysplasia (OSCDP)	NC_000012.12:g.47982886G>A	UniProt,dbSNP
VAR_001748	p.Arg719Cys	missense variant	Osteoarthritis with mild chondrodysplasia (OSCDP)	NC_000012.12:g.47982886G>A	UniProt
rs121912865	p.Arg719Cys	missense variant	-	NC_000012.12:g.47982886G>A	gnomAD
rs535980544	p.Arg719His	missense variant	-	NC_000012.12:g.47982885C>T	1000Genomes,ExAC,gnomAD
RCV000018896	p.Arg719Cys	missense variant	Osteoarthritis with mild chondrodysplasia (OSCDP)	NC_000012.12:g.47982886G>A	ClinVar
RCV000177735	p.Arg719Leu	missense variant	-	NC_000012.12:g.47982885C>A	ClinVar
rs535980544	p.Arg719Leu	missense variant	-	NC_000012.12:g.47982885C>A	1000Genomes,ExAC,gnomAD
rs1489630072	p.Gly720Ser	missense variant	-	NC_000012.12:g.47982883C>T	gnomAD
RCV000593344	p.Gly720Asp	missense variant	-	NC_000012.12:g.47982882C>T	ClinVar
rs1555166528	p.Gly720Asp	missense variant	-	NC_000012.12:g.47982882C>T	-
NCI-TCGA novel	p.Gly720Val	missense variant	-	NC_000012.12:g.47982882C>A	NCI-TCGA
rs1358219223	p.Pro722Ser	missense variant	-	NC_000012.12:g.47982877G>A	gnomAD
rs1178605062	p.Thr724Ala	missense variant	-	NC_000012.12:g.47982871T>C	TOPMed
NCI-TCGA novel	p.Pro725His	missense variant	-	NC_000012.12:g.47982867G>T	NCI-TCGA
rs1351381211	p.Gly726Ser	missense variant	-	NC_000012.12:g.47982865C>T	gnomAD
rs1408196173	p.Asp728Gly	missense variant	-	NC_000012.12:g.47982858T>C	TOPMed
rs1156538783	p.Gly729Val	missense variant	-	NC_000012.12:g.47982855C>A	TOPMed
rs1032496335	p.Lys731Arg	missense variant	-	NC_000012.12:g.47982849T>C	TOPMed
rs1555166457	p.Gly732Asp	missense variant	-	NC_000012.12:g.47982608C>T	-
rs1221069783	p.Gly732Ser	missense variant	-	NC_000012.12:g.47982609C>T	gnomAD
RCV000658409	p.Gly732Asp	missense variant	-	NC_000012.12:g.47982608C>T	ClinVar
rs761777584	p.Ser734Thr	missense variant	-	NC_000012.12:g.47982603A>T	ExAC,TOPMed,gnomAD
rs764188748	p.Pro736Gln	missense variant	-	NC_000012.12:g.47982596G>T	ExAC,gnomAD
COSM939751	p.Ala737Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982593G>A	NCI-TCGA Cosmic
rs1367822001	p.Gly738Ala	missense variant	-	NC_000012.12:g.47982590C>G	gnomAD
NCI-TCGA novel	p.Gly738Val	missense variant	-	NC_000012.12:g.47982590C>A	NCI-TCGA
rs773380247	p.Pro739Leu	missense variant	-	NC_000012.12:g.47982587G>A	ExAC,gnomAD
rs766460153	p.Pro739Ser	missense variant	-	NC_000012.12:g.47982588G>A	ExAC,gnomAD
rs773380247	p.Pro739His	missense variant	-	NC_000012.12:g.47982587G>T	ExAC,gnomAD
rs774819000	p.Pro740His	missense variant	-	NC_000012.12:g.47982584G>T	ExAC,gnomAD
rs748569179	p.Pro740Thr	missense variant	-	NC_000012.12:g.47982585G>T	ExAC,gnomAD
RCV000734152	p.Gly741Ter	frameshift	-	NC_000012.12:g.47982589dup	ClinVar
NCI-TCGA novel	p.Gly741TrpPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47982583_47982584insG	NCI-TCGA
rs779640697	p.Gln743Lys	missense variant	-	NC_000012.12:g.47982576G>T	ExAC,gnomAD
COSM4398127	p.Pro745Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982569G>A	NCI-TCGA Cosmic
RCV000659396	p.Pro746Ser	missense variant	Connective tissue disorder	NC_000012.12:g.47982567G>A	ClinVar
rs1179925303	p.Pro746Ser	missense variant	-	NC_000012.12:g.47982567G>A	gnomAD
rs1064796856	p.Glu754Lys	missense variant	-	NC_000012.12:g.47982543C>T	TOPMed,gnomAD
RCV000480768	p.Glu754Lys	missense variant	-	NC_000012.12:g.47982543C>T	ClinVar
rs1229838046	p.Ala757Val	missense variant	-	NC_000012.12:g.47982533G>A	gnomAD
rs1278710156	p.Ala757Thr	missense variant	-	NC_000012.12:g.47982534C>T	gnomAD
NCI-TCGA novel	p.Ala758Thr	missense variant	-	NC_000012.12:g.47982531C>T	NCI-TCGA
rs1243950495	p.Ala761Val	missense variant	-	NC_000012.12:g.47982521G>A	gnomAD
rs751436440	p.Ala761Thr	missense variant	-	NC_000012.12:g.47982522C>T	ExAC,TOPMed,gnomAD
rs751436440	p.Ala761Ser	missense variant	-	NC_000012.12:g.47982522C>A	ExAC,TOPMed,gnomAD
RCV000288414	p.Ala761Thr	missense variant	Type II Collagenopathies	NC_000012.12:g.47982522C>T	ClinVar
RCV000343300	p.Ala761Thr	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47982522C>T	ClinVar
rs1449745124	p.Asp766Asn	missense variant	-	NC_000012.12:g.47982507C>T	TOPMed,gnomAD
rs1264631701	p.Asp766Glu	missense variant	-	NC_000012.12:g.47982505G>T	TOPMed
rs1489072715	p.Gly768Ser	missense variant	-	NC_000012.12:g.47982160C>T	gnomAD
rs368583168	p.Val770Phe	missense variant	-	NC_000012.12:g.47982154C>A	ExAC,TOPMed,gnomAD
rs368583168	p.Val770Ile	missense variant	-	NC_000012.12:g.47982154C>T	ExAC,TOPMed,gnomAD
rs767686686	p.Val770Gly	missense variant	-	NC_000012.12:g.47982153A>C	ExAC,gnomAD
VAR_017641	p.Gly771Asp	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
VAR_024821	p.Gly771Ala	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
RCV000018901	p.Gly774Ser	missense variant	Hypochondrogenesis	NC_000012.12:g.47982142C>T	ClinVar
rs121912867	p.Gly774Ser	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47982142C>T	UniProt,dbSNP
VAR_001749	p.Gly774Ser	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47982142C>T	UniProt
rs121912867	p.Gly774Ser	missense variant	-	NC_000012.12:g.47982142C>T	-
NCI-TCGA novel	p.Glu776Asp	missense variant	-	NC_000012.12:g.47982134C>A	NCI-TCGA
NCI-TCGA novel	p.Glu776Gly	missense variant	-	NC_000012.12:g.47982135T>C	NCI-TCGA
NCI-TCGA novel	p.Gly777Arg	missense variant	-	NC_000012.12:g.47982133C>T	NCI-TCGA
rs751864679	p.Ala778Val	missense variant	-	NC_000012.12:g.47982129G>A	ExAC,gnomAD
rs762047461	p.Ala778Thr	missense variant	-	NC_000012.12:g.47982130C>T	ExAC,gnomAD
COSM1299403	p.Gly780Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982123C>A	NCI-TCGA Cosmic
VAR_017642	p.Gly780Arg	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs763297355	p.Asp782Asn	missense variant	-	NC_000012.12:g.47982118C>T	ExAC,gnomAD
rs776056563	p.Asp782Gly	missense variant	-	NC_000012.12:g.47982117T>C	ExAC,gnomAD
rs759073173	p.Arg785Gln	missense variant	-	NC_000012.12:g.47982108C>T	ExAC,gnomAD
rs886043410	p.Arg785Ter	stop gained	-	NC_000012.12:g.47982109G>A	-
rs759073173	p.Arg785Pro	missense variant	-	NC_000012.12:g.47982108C>G	ExAC,gnomAD
RCV000579307	p.Arg785Ter	nonsense	-	NC_000012.12:g.47982109G>A	ClinVar
rs121912892	p.Gly786Ser	missense variant	-	NC_000012.12:g.47981829C>T	gnomAD
NCI-TCGA novel	p.Leu787Met	missense variant	-	NC_000012.12:g.47981826G>T	NCI-TCGA
rs1396808330	p.Pro790Leu	missense variant	-	NC_000012.12:g.47981816G>A	gnomAD
rs1306517572	p.Pro790Ser	missense variant	-	NC_000012.12:g.47981817G>A	TOPMed,gnomAD
rs1306295234	p.Gly792Ser	missense variant	-	NC_000012.12:g.47981811C>T	gnomAD
rs1391341631	p.Pro793Thr	missense variant	-	NC_000012.12:g.47981808G>T	TOPMed,gnomAD
rs1391341631	p.Pro793Ser	missense variant	-	NC_000012.12:g.47981808G>A	TOPMed,gnomAD
rs1349357946	p.Pro793Leu	missense variant	-	NC_000012.12:g.47981807G>A	TOPMed
rs1170957923	p.Pro794Leu	missense variant	-	NC_000012.12:g.47981804G>A	gnomAD
rs1019915024	p.Pro794Ser	missense variant	-	NC_000012.12:g.47981805G>A	TOPMed
RCV000659399	p.Pro794Ter	frameshift	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47981809del	ClinVar
rs1472051809	p.Gly795Val	missense variant	-	NC_000012.12:g.47981801C>A	gnomAD
RCV000270407	p.Gly795Ter	frameshift	-	NC_000012.12:g.47981803del	ClinVar
VAR_017643	p.Gly795Arg	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs370138748	p.Pro796Leu	missense variant	-	NC_000012.12:g.47981798G>A	ESP,ExAC,gnomAD
rs1368240211	p.Pro796Ser	missense variant	-	NC_000012.12:g.47981799G>A	gnomAD
rs1442607613	p.Ala797Thr	missense variant	-	NC_000012.12:g.47981796C>T	gnomAD
rs753047404	p.Gly798Asp	missense variant	-	NC_000012.12:g.47981792C>T	ExAC
rs1202431343	p.Ala799Val	missense variant	-	NC_000012.12:g.47981789G>A	gnomAD
rs1259125291	p.Ala799Thr	missense variant	-	NC_000012.12:g.47981790C>T	gnomAD
rs760317469	p.Glu802Val	missense variant	-	NC_000012.12:g.47981780T>A	ExAC
RCV000523996	p.Glu802Lys	missense variant	-	NC_000012.12:g.47981781C>T	ClinVar
rs148985854	p.Glu802Lys	missense variant	-	NC_000012.12:g.47981781C>T	ESP,ExAC,TOPMed,gnomAD
rs771662022	p.Lys803Asn	missense variant	-	NC_000012.12:g.47981776C>A	ExAC
rs772898695	p.Lys803Glu	missense variant	-	NC_000012.12:g.47981778T>C	ExAC
rs1286544132	p.Gly804Glu	missense variant	-	NC_000012.12:g.47981395C>T	gnomAD
NCI-TCGA novel	p.Gly804Arg	missense variant	-	NC_000012.12:g.47981396C>T	NCI-TCGA
VAR_001751	p.Gly804Ala	Missense	-	-	UniProt
rs772628060	p.Glu805Asp	missense variant	-	NC_000012.12:g.47981391T>G	ExAC,gnomAD
rs548481093	p.Val806Phe	missense variant	-	NC_000012.12:g.47981390C>A	TOPMed,gnomAD
rs1276025680	p.Pro808Ser	missense variant	-	NC_000012.12:g.47981384G>A	gnomAD
rs1443730468	p.Pro809Leu	missense variant	-	NC_000012.12:g.47981380G>A	TOPMed,gnomAD
RCV000177904	p.Gly810Cys	missense variant	-	NC_000012.12:g.47981378C>A	ClinVar
rs794727596	p.Gly810Cys	missense variant	-	NC_000012.12:g.47981378C>A	-
rs767149878	p.Ala812Val	missense variant	-	NC_000012.12:g.47981371G>A	ExAC,TOPMed,gnomAD
rs1320346184	p.Ser814Asn	missense variant	-	NC_000012.12:g.47981365C>T	gnomAD
rs376834551	p.Arg818Leu	missense variant	-	NC_000012.12:g.47981353C>A	ESP,ExAC,TOPMed,gnomAD
rs376834551	p.Arg818His	missense variant	-	NC_000012.12:g.47981353C>T	ESP,ExAC,TOPMed,gnomAD
rs1345434851	p.Arg818Cys	missense variant	-	NC_000012.12:g.47981354G>A	gnomAD
rs371550944	p.Ala820Thr	missense variant	-	NC_000012.12:g.47981348C>T	ESP,ExAC,TOPMed,gnomAD
rs201963052	p.Pro821Leu	missense variant	-	NC_000012.12:g.47981344G>A	ESP,ExAC,TOPMed,gnomAD
rs1455507031	p.Pro821Ser	missense variant	-	NC_000012.12:g.47981345G>A	gnomAD
rs544962834	p.Glu823Asp	missense variant	-	NC_000012.12:g.47980963T>A	gnomAD
rs762709402	p.Arg824His	missense variant	-	NC_000012.12:g.47980961C>T	ExAC,gnomAD
rs1418853798	p.Arg824Cys	missense variant	-	NC_000012.12:g.47980962G>A	gnomAD
COSM939749	p.Gly825Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47980959C>G	NCI-TCGA Cosmic
rs1312114770	p.Glu826Gly	missense variant	-	NC_000012.12:g.47980955T>C	TOPMed
rs1251139942	p.Thr827Ile	missense variant	-	NC_000012.12:g.47980952G>A	gnomAD
rs375253238	p.Pro829Arg	missense variant	-	NC_000012.12:g.47980946G>C	ESP,ExAC,TOPMed,gnomAD
rs375253238	p.Pro829His	missense variant	-	NC_000012.12:g.47980946G>T	ESP,ExAC,TOPMed,gnomAD
rs745794356	p.Pro829Ser	missense variant	-	NC_000012.12:g.47980947G>A	ExAC,gnomAD
rs375253238	p.Pro829Leu	missense variant	-	NC_000012.12:g.47980946G>A	ESP,ExAC,TOPMed,gnomAD
rs1221309294	p.Pro830Leu	missense variant	-	NC_000012.12:g.47980943G>A	gnomAD
rs886044702	p.ProGly830ProArg	missense variant	-	NC_000012.12:g.47980941_47980942delinsTT	-
rs1555166013	p.Gly831Val	missense variant	-	NC_000012.12:g.47980940C>A	-
rs1064796660	p.Gly831Arg	missense variant	-	NC_000012.12:g.47980941C>T	-
RCV000307527	p.Gly831Arg	missense variant	-	NC_000012.12:g.47980941_47980942delinsTT	ClinVar
RCV000485567	p.Gly831Arg	missense variant	-	NC_000012.12:g.47980941C>T	ClinVar
RCV000515111	p.Gly831Val	missense variant	-	NC_000012.12:g.47980940C>A	ClinVar
RCV000599314	p.Gly831Ter	frameshift	-	NC_000012.12:g.47980947dup	ClinVar
rs748306980	p.Pro832Ala	missense variant	-	NC_000012.12:g.47980938G>C	ExAC,TOPMed,gnomAD
rs748306980	p.Pro832Thr	missense variant	-	NC_000012.12:g.47980938G>T	ExAC,TOPMed,gnomAD
rs1287197057	p.Pro832Leu	missense variant	-	NC_000012.12:g.47980937G>A	gnomAD
rs748306980	p.Pro832Ser	missense variant	-	NC_000012.12:g.47980938G>A	ExAC,TOPMed,gnomAD
rs1391419419	p.Ala833Thr	missense variant	-	NC_000012.12:g.47980935C>T	gnomAD
rs1375464902	p.Ala833Val	missense variant	-	NC_000012.12:g.47980934G>A	TOPMed,gnomAD
rs1180343069	p.Ala836Ser	missense variant	-	NC_000012.12:g.47980926C>A	TOPMed
rs1457277651	p.Gly837Glu	missense variant	-	NC_000012.12:g.47980922C>T	gnomAD
rs912002483	p.Pro838His	missense variant	-	NC_000012.12:g.47980919G>T	TOPMed,gnomAD
rs912002483	p.Pro838Leu	missense variant	-	NC_000012.12:g.47980919G>A	TOPMed,gnomAD
rs1394928861	p.Pro838Ser	missense variant	-	NC_000012.12:g.47980920G>A	gnomAD
rs1455812046	p.Pro839His	missense variant	-	NC_000012.12:g.47980916G>T	gnomAD
rs1225906671	p.Gly840Ser	missense variant	-	NC_000012.12:g.47980661C>T	gnomAD
rs762619684	p.Ala841Val	missense variant	-	NC_000012.12:g.47980657G>A	ExAC,TOPMed,gnomAD
rs794727607	p.Gln844Ter	stop gained	-	NC_000012.12:g.47980649G>A	-
RCV000177979	p.Gln844Ter	nonsense	-	NC_000012.12:g.47980649G>A	ClinVar
rs886042043	p.Gly846Arg	missense variant	-	NC_000012.12:g.47980643C>T	-
rs1400290624	p.Gly846Glu	missense variant	-	NC_000012.12:g.47980642C>T	gnomAD
RCV000293167	p.Gly846Arg	missense variant	-	NC_000012.12:g.47980643C>T	ClinVar
rs1298446581	p.Lys848Thr	missense variant	-	NC_000012.12:g.47980636T>G	TOPMed
rs1302361762	p.Gly849Ser	missense variant	-	NC_000012.12:g.47980634C>T	gnomAD
rs776408221	p.Gln851Glu	missense variant	-	NC_000012.12:g.47980628G>C	ExAC
RCV000422721	p.Gln851Pro	missense variant	-	NC_000012.12:g.47980627T>G	ClinVar
rs1057524266	p.Gln851Pro	missense variant	-	NC_000012.12:g.47980627T>G	-
rs770939212	p.Glu853Asp	missense variant	-	NC_000012.12:g.47980620C>A	ExAC,gnomAD
rs1377808450	p.Glu853Gly	missense variant	-	NC_000012.12:g.47980621T>C	gnomAD
rs1449303223	p.Ala854Asp	missense variant	-	NC_000012.12:g.47980618G>T	gnomAD
rs1193507525	p.Gly855Ser	missense variant	-	NC_000012.12:g.47980616C>T	gnomAD
RCV000760572	p.Gln856Ter	nonsense	-	NC_000012.12:g.47980613G>A	ClinVar
rs749527439	p.Asp859Asn	missense variant	-	NC_000012.12:g.47980604C>T	ExAC,TOPMed,gnomAD
rs1209546147	p.Gly861Asp	missense variant	-	NC_000012.12:g.47980597C>T	gnomAD
RCV000584780	p.Gly861Asp	missense variant	Skeletal dysplasia	NC_000012.12:g.47980597C>T	ClinVar
rs1485674245	p.Ala862Val	missense variant	-	NC_000012.12:g.47980594G>A	gnomAD
rs1485674245	p.Ala862Asp	missense variant	-	NC_000012.12:g.47980594G>T	gnomAD
rs1277416658	p.Ala862Thr	missense variant	-	NC_000012.12:g.47980595C>T	TOPMed,gnomAD
rs1338557436	p.Pro863Leu	missense variant	-	NC_000012.12:g.47980591G>A	gnomAD
rs1202916370	p.Pro863Ser	missense variant	-	NC_000012.12:g.47980592G>A	gnomAD
rs1270518243	p.Gly864Ser	missense variant	-	NC_000012.12:g.47980589C>T	gnomAD
rs1229279454	p.Pro865His	missense variant	-	NC_000012.12:g.47980585G>T	gnomAD
rs886042849	p.Gly867Val	missense variant	-	NC_000012.12:g.47980579C>A	-
RCV000393415	p.Gly867Val	missense variant	-	NC_000012.12:g.47980579C>A	ClinVar
rs973567389	p.Pro868Leu	missense variant	-	NC_000012.12:g.47980576G>A	TOPMed
rs973567389	p.Pro868Arg	missense variant	-	NC_000012.12:g.47980576G>C	TOPMed
rs770043048	p.Pro868Ser	missense variant	-	NC_000012.12:g.47980577G>A	ExAC,TOPMed,gnomAD
RCV000379858	p.Gly870Val	missense variant	-	NC_000012.12:g.47980570C>A	ClinVar
rs886041429	p.Gly870Val	missense variant	-	NC_000012.12:g.47980570C>A	-
rs781523352	p.Ala871Thr	missense variant	-	NC_000012.12:g.47980568C>T	ExAC,gnomAD
rs1306772996	p.Pro872Leu	missense variant	-	NC_000012.12:g.47980564G>A	gnomAD
rs886042009	p.Gly873Glu	missense variant	-	NC_000012.12:g.47980561C>T	-
rs886042009	p.Gly873Val	missense variant	-	NC_000012.12:g.47980561C>A	-
rs886041713	p.Gly873Arg	missense variant	-	NC_000012.12:g.47980562C>T	gnomAD
RCV000335506	p.Gly873Trp	missense variant	-	NC_000012.12:g.47980562C>A	ClinVar
RCV000271693	p.Gly873Glu	missense variant	-	NC_000012.12:g.47980561C>T	ClinVar
RCV000660367	p.Gly873Val	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47980561C>A	ClinVar
rs886041713	p.Gly873Trp	missense variant	-	NC_000012.12:g.47980562C>A	gnomAD
rs377198201	p.Pro874Ser	missense variant	-	NC_000012.12:g.47980559G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1170029304	p.Pro874Leu	missense variant	-	NC_000012.12:g.47980558G>A	gnomAD
rs377198201	p.Pro874Thr	missense variant	-	NC_000012.12:g.47980559G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000755954	p.Pro874Ser	missense variant	-	NC_000012.12:g.47980559G>A	ClinVar
RCV000595545	p.Pro874Thr	missense variant	-	NC_000012.12:g.47980559G>T	ClinVar
rs147760401	p.Thr878Ala	missense variant	-	NC_000012.12:g.47980056T>C	ESP,TOPMed,gnomAD
RCV000407780	p.Val880Met	missense variant	-	NC_000012.12:g.47980050C>T	ClinVar
rs886043832	p.Val880Met	missense variant	-	NC_000012.12:g.47980050C>T	gnomAD
rs1370767780	p.Thr881Ala	missense variant	-	NC_000012.12:g.47980047T>C	gnomAD
rs768219590	p.Thr881Ile	missense variant	-	NC_000012.12:g.47980046G>A	TOPMed
rs768219590	p.Thr881Ser	missense variant	-	NC_000012.12:g.47980046G>C	TOPMed
rs1327027348	p.Gly882Asp	missense variant	-	NC_000012.12:g.47980043C>T	gnomAD
rs1396230731	p.Ala886Thr	missense variant	-	NC_000012.12:g.47980032C>T	gnomAD
rs1315785291	p.Ala886Val	missense variant	-	NC_000012.12:g.47980031G>A	gnomAD
rs1399676515	p.Arg887Ter	stop gained	-	NC_000012.12:g.47980029G>A	TOPMed,gnomAD
rs121912879	p.Gly891Arg	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47980017C>G	-
rs121912879	p.Gly891Arg	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47980017C>G	UniProt,dbSNP
VAR_001752	p.Gly891Arg	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47980017C>G	UniProt
RCV000022480	p.Gly891Arg	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47980017C>G	ClinVar
rs1160269578	p.Pro892Leu	missense variant	-	NC_000012.12:g.47980013G>A	gnomAD
rs1394353561	p.Pro893Leu	missense variant	-	NC_000012.12:g.47980010G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly894Arg	missense variant	-	NC_000012.12:g.47979564C>T	NCI-TCGA
NCI-TCGA novel	p.Gly894Glu	missense variant	-	NC_000012.12:g.47979563C>T	NCI-TCGA
VAR_017644	p.Gly894Glu	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1193506581	p.Ala895Thr	missense variant	-	NC_000012.12:g.47979561C>T	TOPMed
rs1281743095	p.Gly897Glu	missense variant	-	NC_000012.12:g.47979554C>T	gnomAD
VAR_023931	p.Gly897Val	Missense	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]	-	UniProt
NCI-TCGA novel	p.Gly900Glu	missense variant	-	NC_000012.12:g.47979545C>T	NCI-TCGA
rs1213623474	p.Ala902Asp	missense variant	-	NC_000012.12:g.47979539G>T	gnomAD
rs1213623474	p.Ala902Val	missense variant	-	NC_000012.12:g.47979539G>A	gnomAD
rs201544025	p.Arg904His	missense variant	-	NC_000012.12:g.47979533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000414959	p.Arg904Cys	missense variant	Myopia	NC_000012.12:g.47979534G>A	ClinVar
RCV000513905	p.Arg904Cys	missense variant	-	NC_000012.12:g.47979534G>A	ClinVar
RCV000018922	p.Arg904Cys	missense variant	Epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD)	NC_000012.12:g.47979534G>A	ClinVar
rs121912882	p.Arg904Cys	missense variant	-	NC_000012.12:g.47979534G>A	TOPMed
rs121912882	p.Arg904Cys	missense variant	Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)	NC_000012.12:g.47979534G>A	UniProt,dbSNP
VAR_017645	p.Arg904Cys	missense variant	Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)	NC_000012.12:g.47979534G>A	UniProt
rs1271505111	p.Val905Ala	missense variant	-	NC_000012.12:g.47979530A>G	gnomAD
rs759822181	p.Val905Ile	missense variant	-	NC_000012.12:g.47979531C>T	ExAC,TOPMed,gnomAD
rs1398589070	p.Pro907Ser	missense variant	-	NC_000012.12:g.47979525G>A	TOPMed
rs121912875	p.Gly909Cys	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47979519C>A	UniProt,dbSNP
VAR_001753	p.Gly909Cys	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47979519C>A	UniProt
rs121912875	p.Gly909Cys	missense variant	-	NC_000012.12:g.47979519C>A	-
RCV000018911	p.Gly909Cys	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47979519C>A	ClinVar
rs748669015	p.Pro916Ser	missense variant	-	NC_000012.12:g.47978746G>A	ExAC,gnomAD
rs748669015	p.Pro916Thr	missense variant	-	NC_000012.12:g.47978746G>T	ExAC,gnomAD
rs529306283	p.Pro917Leu	missense variant	-	NC_000012.12:g.47978742G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro917LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000012.12:g.47978742G>-	NCI-TCGA
RCV000757108	p.Gly918Arg	missense variant	-	NC_000012.12:g.47978740C>G	ClinVar
rs1178264170	p.Pro919Ser	missense variant	-	NC_000012.12:g.47978737G>A	gnomAD
rs768207318	p.Pro919Leu	missense variant	-	NC_000012.12:g.47978736G>A	ExAC,gnomAD
rs748788147	p.Pro920Ser	missense variant	-	NC_000012.12:g.47978734G>A	ExAC,gnomAD
rs769590506	p.Pro922Ser	missense variant	-	NC_000012.12:g.47978728G>A	ExAC,TOPMed,gnomAD
rs1246355642	p.Asp926Gly	missense variant	-	NC_000012.12:g.47978715T>C	gnomAD
rs757198490	p.Pro928Ser	missense variant	-	NC_000012.12:g.47978710G>A	ExAC,TOPMed,gnomAD
rs757198490	p.Pro928Thr	missense variant	-	NC_000012.12:g.47978710G>T	ExAC,TOPMed,gnomAD
rs886043540	p.Gly930Arg	missense variant	-	NC_000012.12:g.47978704C>G	-
rs1555165501	p.Gly930Asp	missense variant	-	NC_000012.12:g.47978703C>T	-
RCV000312846	p.Gly930Arg	missense variant	-	NC_000012.12:g.47978704C>G	ClinVar
COSM3461251	p.Gly930Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978704C>T	NCI-TCGA Cosmic
RCV000622409	p.Gly930Asp	missense variant	Inborn genetic diseases	NC_000012.12:g.47978703C>T	ClinVar
NCI-TCGA novel	p.Ala931Asp	missense variant	-	NC_000012.12:g.47978700G>T	NCI-TCGA
rs121912866	p.Arg932Ter	stop gained	-	NC_000012.12:g.47978698G>A	-
rs570320774	p.Arg932Gln	missense variant	-	NC_000012.12:g.47978697C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000726311	p.Arg932Ter	nonsense	-	NC_000012.12:g.47978698G>A	ClinVar
RCV000018899	p.Arg932Ter	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47978698G>A	ClinVar
rs1350090082	p.Asp934His	missense variant	-	NC_000012.12:g.47978692C>G	TOPMed
rs777615798	p.Gly936Ser	missense variant	-	NC_000012.12:g.47978686C>T	ExAC,gnomAD
rs1440896814	p.Pro937Ser	missense variant	-	NC_000012.12:g.47978683G>A	TOPMed
rs1440896814	p.Pro937Ala	missense variant	-	NC_000012.12:g.47978683G>C	TOPMed
COSM3398744	p.Pro937Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978682G>A	NCI-TCGA Cosmic
rs200772957	p.Pro938Ser	missense variant	-	NC_000012.12:g.47978680G>A	1000Genomes
RCV000255509	p.Pro938Ter	frameshift	-	NC_000012.12:g.47978684del	ClinVar
rs1195861128	p.Gly939Ala	missense variant	-	NC_000012.12:g.47978676C>G	TOPMed
RCV000497484	p.Gly939Ter	frameshift	-	NC_000012.12:g.47978678del	ClinVar
rs533540496	p.Arg940Leu	missense variant	-	NC_000012.12:g.47978673C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs533540496	p.Arg940Gln	missense variant	-	NC_000012.12:g.47978673C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs533540496	p.Arg940Pro	missense variant	-	NC_000012.12:g.47978673C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000438911	p.Arg940Ter	nonsense	-	NC_000012.12:g.47978674G>A	ClinVar
RCV000406174	p.Arg940Gln	missense variant	Type II Collagenopathies	NC_000012.12:g.47978673C>T	ClinVar
RCV000659401	p.Arg940Pro	missense variant	Connective tissue disorder	NC_000012.12:g.47978673C>G	ClinVar
RCV000289195	p.Arg940Gln	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47978673C>T	ClinVar
rs1057524114	p.Arg940Ter	stop gained	-	NC_000012.12:g.47978674G>A	-
rs886041914	p.Gly942Ala	missense variant	-	NC_000012.12:g.47978667C>G	gnomAD
rs886041914	p.Gly942Asp	missense variant	-	NC_000012.12:g.47978667C>T	gnomAD
RCV000285557	p.Gly942Asp	missense variant	-	NC_000012.12:g.47978667C>T	ClinVar
rs971819737	p.Glu943Ala	missense variant	-	NC_000012.12:g.47978664T>G	TOPMed
rs1187182659	p.Glu943Lys	missense variant	-	NC_000012.12:g.47978665C>T	TOPMed
rs140368756	p.Pro944Leu	missense variant	-	NC_000012.12:g.47978661G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140368756	p.Pro944His	missense variant	-	NC_000012.12:g.47978661G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000508472	p.Pro944Leu	missense variant	-	NC_000012.12:g.47978661G>A	ClinVar
rs886039542	p.Gly945Ser	missense variant	-	NC_000012.12:g.47978659C>T	gnomAD
RCV000254943	p.Gly945Ser	missense variant	-	NC_000012.12:g.47978659C>T	ClinVar
rs750729151	p.Gln947His	missense variant	-	NC_000012.12:g.47978651T>G	ExAC,TOPMed,gnomAD
VAR_017646	p.Gly948Asp	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs371991954	p.Pro949Ser	missense variant	-	NC_000012.12:g.47978647G>A	ESP,ExAC,TOPMed,gnomAD
COSM3461249	p.Pro949Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978646G>A	NCI-TCGA Cosmic
rs762151026	p.Ala950Ser	missense variant	-	NC_000012.12:g.47978644C>A	ExAC,gnomAD
rs1260980345	p.Pro952Leu	missense variant	-	NC_000012.12:g.47978637G>A	TOPMed
rs1260980345	p.Pro952Arg	missense variant	-	NC_000012.12:g.47978637G>C	TOPMed
rs140740708	p.Pro952Thr	missense variant	-	NC_000012.12:g.47978638G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1373299848	p.Glu955Lys	missense variant	-	NC_000012.12:g.47978629C>T	TOPMed
COSM3461247	p.Gly960Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978614C>T	NCI-TCGA Cosmic
COSM693821	p.Asp961Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978611C>T	NCI-TCGA Cosmic
rs1215825701	p.Gly963Ser	missense variant	-	NC_000012.12:g.47978605C>T	gnomAD
rs762474697	p.Pro964Leu	missense variant	-	NC_000012.12:g.47978601G>A	ExAC
COSM3461245	p.Pro964Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978602G>A	NCI-TCGA Cosmic
rs1166535671	p.Ala967Thr	missense variant	-	NC_000012.12:g.47978395C>T	gnomAD
rs1193442202	p.Glu968Gly	missense variant	-	NC_000012.12:g.47978391T>C	gnomAD
rs144572461	p.Glu968Lys	missense variant	-	NC_000012.12:g.47978392C>T	ESP,ExAC,TOPMed,gnomAD
rs121912878	p.Gly969Ser	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47978389C>T	-
rs121912878	p.Gly969Ser	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47978389C>T	UniProt,dbSNP
VAR_001754	p.Gly969Ser	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47978389C>T	UniProt
RCV000018915	p.Gly969Ser	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47978389C>T	ClinVar
rs371268468	p.Pro970Leu	missense variant	-	NC_000012.12:g.47978385G>A	ESP,ExAC,TOPMed,gnomAD
rs1437419245	p.Pro973Leu	missense variant	-	NC_000012.12:g.47978376G>A	gnomAD
rs776404713	p.Gln974Arg	missense variant	-	NC_000012.12:g.47978373T>C	ExAC,gnomAD
rs1186549251	p.Ala977Thr	missense variant	-	NC_000012.12:g.47978365C>T	gnomAD
rs1457365714	p.Arg980Lys	missense variant	-	NC_000012.12:g.47978355C>T	TOPMed
rs1485969403	p.Gly981Asp	missense variant	-	NC_000012.12:g.47978352C>T	gnomAD
VAR_017647	p.Gly981Ser	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1239633408	p.Ile982Phe	missense variant	-	NC_000012.12:g.47978350T>A	TOPMed,gnomAD
rs772889503	p.Val983Ile	missense variant	-	NC_000012.12:g.47978347C>T	ExAC,gnomAD
rs1252164163	p.Val983Ala	missense variant	-	NC_000012.12:g.47978346A>G	gnomAD
COSM4042171	p.Gly984Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978344C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly987Glu	missense variant	-	NC_000012.12:g.47978334C>T	NCI-TCGA
NCI-TCGA novel	p.Gly987Arg	missense variant	-	NC_000012.12:g.47978335C>T	NCI-TCGA
rs121912874	p.Arg989Cys	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47978329G>A	UniProt,dbSNP
VAR_001755	p.Arg989Cys	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47978329G>A	UniProt
rs121912874	p.Arg989Cys	missense variant	-	NC_000012.12:g.47978329G>A	-
rs756155678	p.Arg989His	missense variant	-	NC_000012.12:g.47978328C>T	ExAC,gnomAD
RCV000478360	p.Arg989Cys	missense variant	-	NC_000012.12:g.47978329G>A	ClinVar
RCV000762895	p.Arg989Cys	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47978329G>A	ClinVar
RCV000018910	p.Arg989Cys	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47978329G>A	ClinVar
rs1342790437	p.Arg992Lys	missense variant	-	NC_000012.12:g.47978319C>T	gnomAD
rs121912895	p.Arg992Gly	missense variant	-	NC_000012.12:g.47978320T>C	-
rs121912895	p.Arg992Gly	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47978320T>C	UniProt,dbSNP
VAR_023932	p.Arg992Gly	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47978320T>C	UniProt
RCV000018941	p.Arg992Gly	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47978320T>C	ClinVar
rs1050159062	p.Phe994Leu	missense variant	-	NC_000012.12:g.47978314A>G	TOPMed
rs781341152	p.Pro998Ser	missense variant	-	NC_000012.12:g.47978302G>A	ExAC,gnomAD
rs781341152	p.Pro998Thr	missense variant	-	NC_000012.12:g.47978302G>T	ExAC,gnomAD
rs757449808	p.Pro998Leu	missense variant	-	NC_000012.12:g.47978301G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly999Asp	missense variant	-	NC_000012.12:g.47978298C>T	NCI-TCGA
rs149321146	p.Pro1000Arg	missense variant	-	NC_000012.12:g.47978295G>C	ESP,ExAC,TOPMed,gnomAD
rs149321146	p.Pro1000Leu	missense variant	-	NC_000012.12:g.47978295G>A	ESP,ExAC,TOPMed,gnomAD
rs765898571	p.Ser1001Leu	missense variant	-	NC_000012.12:g.47978292G>A	ExAC,TOPMed,gnomAD
rs1204578885	p.Gly1002Ser	missense variant	-	NC_000012.12:g.47978117C>T	gnomAD
rs765802815	p.Glu1003Gly	missense variant	-	NC_000012.12:g.47978113T>C	ExAC,gnomAD
rs376772481	p.Glu1003Lys	missense variant	-	NC_000012.12:g.47978114C>T	ESP,ExAC,TOPMed,gnomAD
rs753342774	p.Gly1005Ser	missense variant	-	NC_000012.12:g.47978108C>T	ExAC,gnomAD
rs1041748968	p.Gln1007Pro	missense variant	-	NC_000012.12:g.47978101T>G	gnomAD
rs1041748968	p.Gln1007Arg	missense variant	-	NC_000012.12:g.47978101T>C	gnomAD
rs765795867	p.Gly1008Asp	missense variant	-	NC_000012.12:g.47978098C>T	ExAC,gnomAD
rs765795867	p.Gly1008Val	missense variant	-	NC_000012.12:g.47978098C>A	ExAC,gnomAD
RCV000415214	p.Gly1008Val	missense variant	-	NC_000012.12:g.47978098C>A	ClinVar
rs1315629927	p.Ala1009Val	missense variant	-	NC_000012.12:g.47978095G>A	TOPMed,gnomAD
rs1399545984	p.Gly1011Glu	missense variant	-	NC_000012.12:g.47978089C>T	gnomAD
NCI-TCGA novel	p.Ser1013Tyr	missense variant	-	NC_000012.12:g.47978083G>T	NCI-TCGA
rs1361163432	p.Gly1014Ala	missense variant	-	NC_000012.12:g.47978080C>G	gnomAD
NCI-TCGA novel	p.Gly1014Arg	missense variant	-	NC_000012.12:g.47978081C>T	NCI-TCGA
rs1432686610	p.Asp1015His	missense variant	-	NC_000012.12:g.47978078C>G	gnomAD
rs146046296	p.Arg1016Lys	missense variant	-	NC_000012.12:g.47978074C>T	ESP,ExAC,TOPMed,gnomAD
rs146046296	p.Arg1016Ile	missense variant	-	NC_000012.12:g.47978074C>A	ESP,ExAC,TOPMed,gnomAD
RCV000387243	p.Arg1016Lys	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47978074C>T	ClinVar
RCV000333414	p.Arg1016Lys	missense variant	Type II Collagenopathies	NC_000012.12:g.47978074C>T	ClinVar
VAR_001757	p.Gly1017Val	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
VAR_017648	p.Gly1017_Val1022del	inframe_deletion	-	-	UniProt
rs1191511314	p.Pro1018Leu	missense variant	-	NC_000012.12:g.47978068G>A	gnomAD
NCI-TCGA novel	p.Pro1018His	missense variant	-	NC_000012.12:g.47978068G>T	NCI-TCGA
COSM3461243	p.Pro1019Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978066G>A	NCI-TCGA Cosmic
rs199642249	p.Val1022Met	missense variant	-	NC_000012.12:g.47978057C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199642249	p.Val1022Leu	missense variant	-	NC_000012.12:g.47978057C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1288854292	p.Pro1024Thr	missense variant	-	NC_000012.12:g.47978051G>T	gnomAD
rs1301506668	p.Pro1025Ser	missense variant	-	NC_000012.12:g.47978048G>A	TOPMed
rs1555165336	p.Gly1026Ala	missense variant	-	NC_000012.12:g.47978044C>G	-
RCV000623306	p.Gly1026Ala	missense variant	Inborn genetic diseases	NC_000012.12:g.47978044C>G	ClinVar
rs770907704	p.Thr1028Met	missense variant	-	NC_000012.12:g.47978038G>A	ExAC,gnomAD
rs748459670	p.Arg1036Gly	missense variant	-	NC_000012.12:g.47978015G>C	ExAC,TOPMed,gnomAD
rs201956851	p.Arg1036Gln	missense variant	-	NC_000012.12:g.47978014C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748459670	p.Arg1036Ter	stop gained	-	NC_000012.12:g.47978015G>A	ExAC,TOPMed,gnomAD
RCV000479858	p.Arg1036Ter	nonsense	-	NC_000012.12:g.47978015G>A	ClinVar
NCI-TCGA novel	p.Glu1037Asp	missense variant	-	NC_000012.12:g.47978010C>A	NCI-TCGA
rs780375782	p.Ser1039Arg	missense variant	-	NC_000012.12:g.47977650T>G	ExAC,TOPMed,gnomAD
rs780375782	p.Ser1039Gly	missense variant	-	NC_000012.12:g.47977650T>C	ExAC,TOPMed,gnomAD
rs756676390	p.Pro1040Ser	missense variant	-	NC_000012.12:g.47977647G>A	ExAC,gnomAD
rs978657987	p.Pro1040Leu	missense variant	-	NC_000012.12:g.47977646G>A	gnomAD
rs1229928635	p.Gly1044Ala	missense variant	-	NC_000012.12:g.47977634C>G	gnomAD
rs756815438	p.Pro1045Ser	missense variant	-	NC_000012.12:g.47977632G>A	ExAC,gnomAD
rs756815438	p.Pro1045Ala	missense variant	-	NC_000012.12:g.47977632G>C	ExAC,gnomAD
rs1447163279	p.Pro1045Leu	missense variant	-	NC_000012.12:g.47977631G>A	gnomAD
rs763772608	p.Pro1046Arg	missense variant	-	NC_000012.12:g.47977628G>C	ExAC,gnomAD
rs751205887	p.Pro1046Ala	missense variant	-	NC_000012.12:g.47977629G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro1046LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47977628G>-	NCI-TCGA
rs1555165245	p.Gly1047Ser	missense variant	-	NC_000012.12:g.47977626C>T	-
RCV000507539	p.Gly1047Ser	missense variant	-	NC_000012.12:g.47977626C>T	ClinVar
RCV000018909	p.Gly1047Ter	frameshift	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47977627del	ClinVar
RCV000725373	p.Gly1047Ter	frameshift	-	NC_000012.12:g.47977627del	ClinVar
NCI-TCGA novel	p.Gly1047TrpPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47977627_47977628insG	NCI-TCGA
rs758162798	p.Arg1048Ser	missense variant	-	NC_000012.12:g.47977621T>A	ExAC,gnomAD
rs752571750	p.Asp1049Asn	missense variant	-	NC_000012.12:g.47977620C>T	ExAC,gnomAD
rs1555165242	p.Gly1050Asp	missense variant	-	NC_000012.12:g.47977616C>T	-
RCV000593974	p.Gly1050Asp	missense variant	-	NC_000012.12:g.47977616C>T	ClinVar
rs41272041	p.Ala1051Thr	missense variant	-	NC_000012.12:g.47977614C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000372933	p.Ala1051Thr	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47977614C>T	ClinVar
RCV000278323	p.Ala1051Thr	missense variant	Type II Collagenopathies	NC_000012.12:g.47977614C>T	ClinVar
rs121912868	p.Gly1053Glu	missense variant	-	NC_000012.12:g.47977607C>T	-
rs121912868	p.Gly1053Glu	missense variant	-	NC_000012.12:g.47977607C>T	UniProt,dbSNP
VAR_001758	p.Gly1053Glu	missense variant	-	NC_000012.12:g.47977607C>T	UniProt
rs1555165237	p.Gly1053Arg	missense variant	-	NC_000012.12:g.47977608C>T	-
RCV000414107	p.Gly1053Ter	frameshift	-	NC_000012.12:g.47977609dup	ClinVar
RCV000507036	p.Gly1053Arg	missense variant	-	NC_000012.12:g.47977608C>T	ClinVar
RCV000018903	p.Gly1053Glu	missense variant	Hypochondrogenesis	NC_000012.12:g.47977607C>T	ClinVar
rs371635111	p.Val1054Ile	missense variant	-	NC_000012.12:g.47977605C>T	TOPMed,gnomAD
rs1380658714	p.Asp1057Asn	missense variant	-	NC_000012.12:g.47977424C>T	gnomAD
rs148350640	p.Arg1058Cys	missense variant	-	NC_000012.12:g.47977421G>A	ESP,ExAC,TOPMed,gnomAD
rs774603840	p.Arg1058Leu	missense variant	-	NC_000012.12:g.47977420C>A	ExAC,TOPMed,gnomAD
rs148350640	p.Arg1058Ser	missense variant	-	NC_000012.12:g.47977421G>T	ESP,ExAC,TOPMed,gnomAD
rs774603840	p.Arg1058His	missense variant	-	NC_000012.12:g.47977420C>T	ExAC,TOPMed,gnomAD
rs1487615511	p.Glu1060Val	missense variant	-	NC_000012.12:g.47977414T>A	gnomAD
rs1402429703	p.Glu1060Lys	missense variant	-	NC_000012.12:g.47977415C>T	gnomAD
rs978921089	p.Ala1063Val	missense variant	-	NC_000012.12:g.47977405G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1063Asp	missense variant	-	NC_000012.12:g.47977405G>T	NCI-TCGA
rs763248048	p.Val1064Met	missense variant	-	NC_000012.12:g.47977403C>T	ExAC,gnomAD
COSM693823	p.Val1064Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977403C>A	NCI-TCGA Cosmic
VAR_017649	p.Gly1065Val	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1555165195	p.Gly1068Glu	missense variant	-	NC_000012.12:g.47977390C>T	-
RCV000658381	p.Gly1068Glu	missense variant	-	NC_000012.12:g.47977390C>T	ClinVar
NCI-TCGA novel	p.Gly1068Val	missense variant	-	NC_000012.12:g.47977390C>A	NCI-TCGA
rs746255869	p.Ala1069Asp	missense variant	-	NC_000012.12:g.47977387G>T	ExAC,TOPMed,gnomAD
rs200112269	p.Ala1069Thr	missense variant	-	NC_000012.12:g.47977388C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746255869	p.Ala1069Val	missense variant	-	NC_000012.12:g.47977387G>A	ExAC,TOPMed,gnomAD
rs200112269	p.Ala1069Pro	missense variant	-	NC_000012.12:g.47977388C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000455425	p.Ala1069Pro	missense variant	-	NC_000012.12:g.47977388C>G	ClinVar
rs771447011	p.Pro1070His	missense variant	-	NC_000012.12:g.47977384G>T	ExAC,gnomAD
rs1489240592	p.Pro1072His	missense variant	-	NC_000012.12:g.47977378G>T	TOPMed,gnomAD
rs955829877	p.Pro1072Ala	missense variant	-	NC_000012.12:g.47977379G>C	TOPMed,gnomAD
rs955829877	p.Pro1072Ser	missense variant	-	NC_000012.12:g.47977379G>A	TOPMed,gnomAD
rs1489240592	p.Pro1072Leu	missense variant	-	NC_000012.12:g.47977378G>A	TOPMed,gnomAD
COSM3461241	p.Pro1073Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977376G>A	NCI-TCGA Cosmic
rs121912864	p.Gly1074Ser	missense variant	-	NC_000012.12:g.47977373C>T	-
RCV000018895	p.Gly1074Ser	missense variant	Hypochondrogenesis	NC_000012.12:g.47977373C>T	ClinVar
rs777282659	p.Ser1075Tyr	missense variant	-	NC_000012.12:g.47977369G>T	ExAC,gnomAD
rs577184544	p.Pro1076Leu	missense variant	-	NC_000012.12:g.47977366G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs786205477	p.Gly1077Val	missense variant	-	NC_000012.12:g.47977363C>A	-
COSM5080747	p.Gly1077Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977363C>T	NCI-TCGA Cosmic
RCV000171212	p.Gly1077Val	missense variant	-	NC_000012.12:g.47977363C>A	ClinVar
COSM3461239	p.Pro1078Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977360G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1078Ser	missense variant	-	NC_000012.12:g.47977361G>A	NCI-TCGA
rs143363942	p.Ala1079Thr	missense variant	-	NC_000012.12:g.47977358C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780101186	p.Pro1081Leu	missense variant	-	NC_000012.12:g.47977351G>A	ExAC,gnomAD
rs753709490	p.Pro1081Ser	missense variant	-	NC_000012.12:g.47977352G>A	ExAC,gnomAD
rs886049446	p.Thr1082Ala	missense variant	-	NC_000012.12:g.47977349T>C	TOPMed
RCV000318331	p.Thr1082Ala	missense variant	Type II Collagenopathies	NC_000012.12:g.47977349T>C	ClinVar
RCV000263200	p.Thr1082Ala	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47977349T>C	ClinVar
rs756125516	p.Lys1084Asn	missense variant	-	NC_000012.12:g.47977341C>A	ExAC,TOPMed,gnomAD
rs1354118542	p.Asp1087His	missense variant	-	NC_000012.12:g.47977334C>G	gnomAD
rs1334070401	p.Arg1088Ile	missense variant	-	NC_000012.12:g.47977330C>A	gnomAD
rs1555165183	p.Gly1089Arg	missense variant	-	NC_000012.12:g.47977328C>T	-
RCV000623740	p.Gly1089Arg	missense variant	Inborn genetic diseases	NC_000012.12:g.47977328C>T	ClinVar
COSM260224	p.Glu1090Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47977325C>A	NCI-TCGA Cosmic
rs751632768	p.Ala1091Thr	missense variant	-	NC_000012.12:g.47977322C>T	ExAC,TOPMed,gnomAD
rs794727684	p.Gly1092Asp	missense variant	-	NC_000012.12:g.47977154C>T	-
RCV000178624	p.Gly1092Asp	missense variant	-	NC_000012.12:g.47977154C>T	ClinVar
rs1239956745	p.Ala1093Thr	missense variant	-	NC_000012.12:g.47977152C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1095Asp	missense variant	-	NC_000012.12:g.47977145C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1095ArgPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47977146_47977147insT	NCI-TCGA
rs377708131	p.Pro1096Leu	missense variant	-	NC_000012.12:g.47977142G>A	ESP,ExAC,TOPMed,gnomAD
rs761070916	p.Pro1096Ser	missense variant	-	NC_000012.12:g.47977143G>A	ExAC,gnomAD
rs377708131	p.Pro1096His	missense variant	-	NC_000012.12:g.47977142G>T	ESP,ExAC,TOPMed,gnomAD
RCV000497777	p.Pro1096Ser	missense variant	-	NC_000012.12:g.47977143G>A	ClinVar
rs1328945853	p.Met1097Ile	missense variant	-	NC_000012.12:g.47977138C>A	gnomAD
rs1375295610	p.Met1097Leu	missense variant	-	NC_000012.12:g.47977140T>A	gnomAD
rs1322319171	p.Ser1100Leu	missense variant	-	NC_000012.12:g.47977130G>A	gnomAD
COSM3812096	p.Ser1100Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47977130G>T	NCI-TCGA Cosmic
rs1392877513	p.Gly1101Glu	missense variant	-	NC_000012.12:g.47977127C>T	gnomAD
rs864621973	p.Gly1101Arg	missense variant	-	NC_000012.12:g.47977128C>T	gnomAD
rs864621973	p.Gly1101Ter	stop gained	-	NC_000012.12:g.47977128C>A	gnomAD
RCV000205306	p.Gly1101Arg	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47977128C>T	ClinVar
rs1156746749	p.Pro1102Ser	missense variant	-	NC_000012.12:g.47977125G>A	gnomAD
rs772478856	p.Pro1102Leu	missense variant	-	NC_000012.12:g.47977124G>A	ExAC,gnomAD
rs1380718726	p.Ala1103Thr	missense variant	-	NC_000012.12:g.47977122C>T	gnomAD
rs1180226091	p.Ala1103Gly	missense variant	-	NC_000012.12:g.47977121G>C	gnomAD
rs886043356	p.Gly1104Glu	missense variant	-	NC_000012.12:g.47977118C>T	-
RCV000377732	p.Gly1104Glu	missense variant	-	NC_000012.12:g.47977118C>T	ClinVar
rs1246281486	p.Ala1105Thr	missense variant	-	NC_000012.12:g.47977116C>T	gnomAD
rs374036874	p.Arg1106Gly	missense variant	-	NC_000012.12:g.47977113G>C	ESP,ExAC,TOPMed,gnomAD
rs374036874	p.Arg1106Trp	missense variant	-	NC_000012.12:g.47977113G>A	ESP,ExAC,TOPMed,gnomAD
rs1453392906	p.Arg1106Gln	missense variant	-	NC_000012.12:g.47977112C>T	TOPMed,gnomAD
rs544032562	p.Gly1107Glu	missense variant	-	NC_000012.12:g.47977109C>T	1000Genomes,gnomAD
COSM1361838	p.Gly1110Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976918C>T	NCI-TCGA Cosmic
VAR_001759	p.Gly1110Cys	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1299951556	p.Gly1113Ser	missense variant	-	NC_000012.12:g.47976910C>T	gnomAD
VAR_001760	p.Gly1113Cys	Missense	-	-	UniProt
rs768002885	p.Pro1114Ser	missense variant	-	NC_000012.12:g.47976907G>A	ExAC,gnomAD
rs762238866	p.Arg1115Lys	missense variant	-	NC_000012.12:g.47976903C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1117Val	missense variant	-	NC_000012.12:g.47976897T>A	NCI-TCGA
rs774979011	p.Lys1118Arg	missense variant	-	NC_000012.12:g.47976894T>C	ExAC,gnomAD
rs1197777581	p.Lys1118Glu	missense variant	-	NC_000012.12:g.47976895T>C	TOPMed
RCV000627444	p.Gly1119Ter	frameshift	-	NC_000012.12:g.47976892del	ClinVar
VAR_017650	p.Gly1119Arg	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1426483203	p.Glu1120Asp	missense variant	-	NC_000012.12:g.47976887C>G	gnomAD
rs1170064048	p.Glu1120Lys	missense variant	-	NC_000012.12:g.47976889C>T	gnomAD
rs1478186152	p.Glu1120Ala	missense variant	-	NC_000012.12:g.47976888T>G	gnomAD
RCV000149457	p.Glu1120Ter	frameshift	Stickler syndrome	NC_000012.12:g.47976889_47976890insAG	ClinVar
rs762592219	p.Glu1126Lys	missense variant	-	NC_000012.12:g.47976871C>T	ExAC,TOPMed,gnomAD
rs775258061	p.Arg1127Lys	missense variant	-	NC_000012.12:g.47976867C>T	ExAC,gnomAD
rs886042612	p.Gly1128Arg	missense variant	-	NC_000012.12:g.47976865C>G	-
RCV000292504	p.Gly1128Arg	missense variant	-	NC_000012.12:g.47976865C>G	ClinVar
rs1317966614	p.Gly1131Glu	missense variant	-	NC_000012.12:g.47976855C>T	gnomAD
NCI-TCGA novel	p.Gly1131Arg	missense variant	-	NC_000012.12:g.47976856C>T	NCI-TCGA
rs776292672	p.Arg1133His	missense variant	-	NC_000012.12:g.47976849C>T	ExAC,TOPMed,gnomAD
rs770820582	p.Phe1135Leu	missense variant	-	NC_000012.12:g.47976842G>C	ExAC,gnomAD
rs1378291308	p.Thr1136Ile	missense variant	-	NC_000012.12:g.47976840G>A	gnomAD
rs1284583459	p.Gly1137Ser	missense variant	-	NC_000012.12:g.47976838C>T	gnomAD
COSM939739	p.Gln1139Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47976832G>A	NCI-TCGA Cosmic
rs1055360917	p.Pro1142Ser	missense variant	-	NC_000012.12:g.47976823G>A	gnomAD
rs1466253134	p.Pro1142His	missense variant	-	NC_000012.12:g.47976822G>T	gnomAD
NCI-TCGA novel	p.Gly1143Asp	missense variant	-	NC_000012.12:g.47976819C>T	NCI-TCGA
VAR_001761	p.Gly1143Ser	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs1162709972	p.Pro1144Ser	missense variant	-	NC_000012.12:g.47976817G>A	gnomAD
rs1415072730	p.Pro1145Ser	missense variant	-	NC_000012.12:g.47976814G>A	TOPMed,gnomAD
rs139720910	p.Pro1147Ala	missense variant	-	NC_000012.12:g.47976564G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs139720910	p.Pro1147Ser	missense variant	-	NC_000012.12:g.47976564G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757538350	p.Asp1150Tyr	missense variant	-	NC_000012.12:g.47976555C>A	ExAC,gnomAD
rs546666705	p.Asp1150Val	missense variant	-	NC_000012.12:g.47976554T>A	1000Genomes,ExAC,gnomAD
rs758975298	p.Gln1151Arg	missense variant	-	NC_000012.12:g.47976551T>C	ExAC,gnomAD
rs1295319338	p.Ala1153Thr	missense variant	-	NC_000012.12:g.47976546C>T	gnomAD
RCV000415337	p.Gly1158Arg	missense variant	-	NC_000012.12:g.47976531C>G	ClinVar
rs1057518911	p.Gly1158Arg	missense variant	-	NC_000012.12:g.47976531C>G	-
VAR_063898	p.Gly1158Ala	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
rs1398724480	p.Arg1163Gly	missense variant	-	NC_000012.12:g.47976516T>C	gnomAD
rs1360388194	p.Arg1163Thr	missense variant	-	NC_000012.12:g.47976515C>G	TOPMed,gnomAD
rs1476546104	p.Gly1164Asp	missense variant	-	NC_000012.12:g.47976069C>T	gnomAD
VAR_001762	p.Gly1164_Ala1199del	inframe_deletion	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
rs374156023	p.Pro1165Leu	missense variant	-	NC_000012.12:g.47976066G>A	ESP,ExAC,TOPMed,gnomAD
RCV000266329	p.Pro1165Leu	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47976066G>A	ClinVar
RCV000361437	p.Pro1165Leu	missense variant	Type II Collagenopathies	NC_000012.12:g.47976066G>A	ClinVar
COSM693825	p.Gly1167Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976060C>A	NCI-TCGA Cosmic
rs760390497	p.Val1169Ile	missense variant	-	NC_000012.12:g.47976055C>T	ExAC,TOPMed,gnomAD
rs760390497	p.Val1169Leu	missense variant	-	NC_000012.12:g.47976055C>G	ExAC,TOPMed,gnomAD
rs121912891	p.Gly1170Ser	missense variant	-	NC_000012.12:g.47976052C>T	-
rs121912891	p.Gly1170Ser	missense variant	Legg-Calve-Perthes disease (LCPD)	NC_000012.12:g.47976052C>T	UniProt,dbSNP
VAR_023933	p.Gly1170Ser	missense variant	Legg-Calve-Perthes disease (LCPD)	NC_000012.12:g.47976052C>T	UniProt
RCV000018936	p.Gly1170Ser	missense variant	Coxa plana (LCPD)	NC_000012.12:g.47976052C>T	ClinVar
RCV000018935	p.Gly1170Ser	missense variant	Avascular necrosis of the head of femur (ANFH1)	NC_000012.12:g.47976052C>T	ClinVar
rs147750391	p.Pro1171Ala	missense variant	-	NC_000012.12:g.47976049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147750391	p.Pro1171Ser	missense variant	-	NC_000012.12:g.47976049G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1306669510	p.Ser1172Pro	missense variant	-	NC_000012.12:g.47976046A>G	gnomAD
rs121912883	p.Gly1173Arg	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47976043C>G	UniProt,dbSNP
VAR_017651	p.Gly1173Arg	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47976043C>G	UniProt
rs121912883	p.Gly1173Arg	missense variant	-	NC_000012.12:g.47976043C>G	-
RCV000018924	p.Gly1173Arg	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47976043C>G	ClinVar
rs1227656207	p.Asp1175Val	missense variant	-	NC_000012.12:g.47976036T>A	TOPMed
VAR_001763	p.Gly1176Ser	Missense	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
VAR_066836	p.Gly1176Val	Missense	-	-	UniProt
COSM939737	p.Gly1179Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47976025C>A	NCI-TCGA Cosmic
VAR_066837	p.Gly1179Arg	Missense	-	-	UniProt
COSM4841179	p.Gly1182Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976015C>T	NCI-TCGA Cosmic
rs770997944	p.Ile1184Thr	missense variant	-	NC_000012.12:g.47976009A>G	ExAC,TOPMed,gnomAD
VAR_019837	p.Ile1184insIleGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIle	inframe_insertion	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
COSM939735	p.Pro1186His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976003G>T	NCI-TCGA Cosmic
VAR_001764	p.Gly1188Arg	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
rs772546486	p.Pro1189Ser	missense variant	-	NC_000012.12:g.47975995G>A	ExAC,gnomAD
rs772546486	p.Pro1189Thr	missense variant	-	NC_000012.12:g.47975995G>T	ExAC,gnomAD
rs755010259	p.Pro1189His	missense variant	-	NC_000012.12:g.47975994G>T	-
RCV000445267	p.Pro1189His	missense variant	-	NC_000012.12:g.47975994G>T	ClinVar
rs748549541	p.Arg1190His	missense variant	-	NC_000012.12:g.47975991C>T	ExAC,gnomAD
rs1338267090	p.Arg1190Cys	missense variant	-	NC_000012.12:g.47975992G>A	gnomAD
rs886042651	p.Arg1192Ter	stop gained	-	NC_000012.12:g.47975986G>A	-
rs779252535	p.Arg1192Gln	missense variant	-	NC_000012.12:g.47975985C>T	ExAC,gnomAD
RCV000357221	p.Arg1192Ter	nonsense	-	NC_000012.12:g.47975986G>A	ClinVar
rs755514365	p.Ser1193Leu	missense variant	-	NC_000012.12:g.47975982G>A	ExAC,TOPMed,gnomAD
rs1186663188	p.Glu1195Lys	missense variant	-	NC_000012.12:g.47975977C>T	gnomAD
rs755689448	p.Thr1196Ile	missense variant	-	NC_000012.12:g.47975973G>A	ExAC,TOPMed,gnomAD
rs121912870	p.Gly1197Ser	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47975971C>T	UniProt,dbSNP
VAR_001765	p.Gly1197Ser	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47975971C>T	UniProt
rs121912870	p.Gly1197Ser	missense variant	-	NC_000012.12:g.47975971C>T	-
RCV000018905	p.Gly1197Ser	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47975971C>T	ClinVar
NCI-TCGA novel	p.Ala1199Val	missense variant	-	NC_000012.12:g.47975964G>A	NCI-TCGA
rs1362154291	p.Gly1200Val	missense variant	-	NC_000012.12:g.47975604C>A	gnomAD
rs1239785870	p.Pro1202Thr	missense variant	-	NC_000012.12:g.47975599G>T	gnomAD
COSM3461235	p.Gly1203Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47975595C>T	NCI-TCGA Cosmic
rs1352621170	p.Asn1204Ser	missense variant	-	NC_000012.12:g.47975592T>C	gnomAD
COSM3461233	p.Pro1205Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47975589G>A	NCI-TCGA Cosmic
rs768961816	p.Pro1207Thr	missense variant	-	NC_000012.12:g.47975584G>T	ExAC,gnomAD
rs768961816	p.Pro1207Ser	missense variant	-	NC_000012.12:g.47975584G>A	ExAC,gnomAD
VAR_001766	p.Pro1207_Gly1212del	inframe_deletion	Kniest dysplasia (KD) [MIM:156550]	-	UniProt
rs1131692022	p.Gly1209Val	missense variant	-	NC_000012.12:g.47975577C>A	-
RCV000494173	p.Gly1209Val	missense variant	-	NC_000012.12:g.47975577C>A	ClinVar
RCV000598983	p.Gly1209Ter	frameshift	-	NC_000012.12:g.47975579del	ClinVar
rs1555164786	p.Gly1212Ala	missense variant	-	NC_000012.12:g.47975568C>G	-
RCV000659404	p.Gly1212Ala	missense variant	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47975568C>G	ClinVar
rs886626700	p.Pro1213Ser	missense variant	-	NC_000012.12:g.47975566G>A	TOPMed,gnomAD
rs1315796331	p.Pro1214Ser	missense variant	-	NC_000012.12:g.47975563G>A	TOPMed
NCI-TCGA novel	p.Gly1215TrpPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47975561_47975562insG	NCI-TCGA
NCI-TCGA novel	p.Gly1215Val	missense variant	-	NC_000012.12:g.47975559C>A	NCI-TCGA
rs775874428	p.Gly1215Ala	missense variant	-	NC_000012.12:g.47975559C>G	ExAC,TOPMed,gnomAD
RCV000594099	p.Gly1215Ala	missense variant	-	NC_000012.12:g.47975559C>G	ClinVar
rs1418851351	p.Pro1216His	missense variant	-	NC_000012.12:g.47975556G>T	gnomAD
rs374450416	p.Ile1218Val	missense variant	-	NC_000012.12:g.47975551T>C	ESP,ExAC,TOPMed,gnomAD
rs760093841	p.Asp1219Asn	missense variant	-	NC_000012.12:g.47975548C>T	ExAC,gnomAD
rs751251798	p.Asp1219Gly	missense variant	-	NC_000012.12:g.47975547T>C	ExAC,gnomAD
rs760093841	p.Asp1219His	missense variant	-	NC_000012.12:g.47975548C>G	ExAC,gnomAD
rs760093841	p.Asp1219Tyr	missense variant	-	NC_000012.12:g.47975548C>A	ExAC,gnomAD
RCV000429122	p.Asp1219Tyr	missense variant	-	NC_000012.12:g.47975548C>A	ClinVar
RCV000515452	p.Asp1219His	missense variant	Spondyloepiphyseal dysplasia, stanescu type (SEDSTN)	NC_000012.12:g.47975548C>G	ClinVar
rs886049445	p.Met1220Thr	missense variant	-	NC_000012.12:g.47975544A>G	gnomAD
rs758192023	p.Met1220Ile	missense variant	-	NC_000012.12:g.47975543C>T	ExAC,gnomAD
RCV000310097	p.Met1220Thr	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47975544A>G	ClinVar
RCV000364949	p.Met1220Thr	missense variant	Type II Collagenopathies	NC_000012.12:g.47975544A>G	ClinVar
rs995646562	p.Ala1222Thr	missense variant	-	NC_000012.12:g.47975539C>T	gnomAD
rs1284572823	p.Gly1227Ser	missense variant	-	NC_000012.12:g.47975524C>T	gnomAD
rs371974287	p.Pro1228Arg	missense variant	-	NC_000012.12:g.47975520G>C	ESP,ExAC,TOPMed,gnomAD
rs371974287	p.Pro1228Leu	missense variant	-	NC_000012.12:g.47975520G>A	ESP,ExAC,TOPMed,gnomAD
rs1204262041	p.Pro1228Ser	missense variant	-	NC_000012.12:g.47975521G>A	TOPMed
rs776705338	p.Arg1229Ile	missense variant	-	NC_000012.12:g.47975517C>A	TOPMed,gnomAD
rs1241940269	p.Arg1229Ser	missense variant	-	NC_000012.12:g.47975516T>A	TOPMed
rs776705338	p.Arg1229Thr	missense variant	-	NC_000012.12:g.47975517C>G	TOPMed,gnomAD
rs1223523741	p.Glu1230Lys	missense variant	-	NC_000012.12:g.47975515C>T	gnomAD
rs1347381176	p.Glu1230Asp	missense variant	-	NC_000012.12:g.47975513C>G	gnomAD
NCI-TCGA novel	p.Lys1231Arg	missense variant	-	NC_000012.12:g.47975511T>C	NCI-TCGA
rs1276202058	p.Gly1232Ser	missense variant	-	NC_000012.12:g.47975509C>T	gnomAD
rs1345598613	p.Asp1234Asn	missense variant	-	NC_000012.12:g.47975503C>T	gnomAD
rs891008017	p.Asp1234Glu	missense variant	-	NC_000012.12:g.47975501G>T	TOPMed
rs1319982290	p.Pro1235Thr	missense variant	-	NC_000012.12:g.47975500G>T	gnomAD
rs368270799	p.Leu1236Pro	missense variant	-	NC_000012.12:g.47975496A>G	ESP,ExAC,TOPMed,gnomAD
rs199726428	p.Tyr1238Ser	missense variant	-	NC_000012.12:g.47975490T>G	ExAC,TOPMed,gnomAD
rs200136879	p.Met1239Leu	missense variant	-	NC_000012.12:g.47975488T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1193540081	p.Met1239Thr	missense variant	-	NC_000012.12:g.47975487A>G	TOPMed,gnomAD
rs200136879	p.Met1239Val	missense variant	-	NC_000012.12:g.47975488T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met1239Ile	missense variant	-	NC_000012.12:g.47975486C>T	NCI-TCGA
rs770482348	p.Arg1240Gln	missense variant	-	NC_000012.12:g.47975484C>T	ExAC,TOPMed,gnomAD
rs770482348	p.Arg1240Leu	missense variant	-	NC_000012.12:g.47975484C>A	ExAC,TOPMed,gnomAD
rs374082762	p.Arg1240Trp	missense variant	-	NC_000012.12:g.47975485G>A	ESP,ExAC,TOPMed,gnomAD
RCV000487637	p.Arg1240Trp	missense variant	-	NC_000012.12:g.47975485G>A	ClinVar
rs746665798	p.Ala1241Val	missense variant	-	NC_000012.12:g.47975481G>A	ExAC,TOPMed,gnomAD
rs1208388893	p.Ala1241Ser	missense variant	-	NC_000012.12:g.47975482C>A	gnomAD
rs905184041	p.Asp1242Asn	missense variant	-	NC_000012.12:g.47975479C>T	TOPMed
rs1203808169	p.Ala1244Val	missense variant	-	NC_000012.12:g.47975472G>A	gnomAD
RCV000659406	p.Ala1244Ter	frameshift	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47975472del	ClinVar
rs147569641	p.Gly1246Ser	missense variant	-	NC_000012.12:g.47975467C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000438916	p.Gly1246Ser	missense variant	-	NC_000012.12:g.47975467C>T	ClinVar
rs1271714738	p.His1251Gln	missense variant	-	NC_000012.12:g.47975450A>T	gnomAD
rs377079894	p.Asp1252Glu	missense variant	-	NC_000012.12:g.47975447G>T	ESP,ExAC,TOPMed,gnomAD
rs1261984786	p.Asp1252Asn	missense variant	-	NC_000012.12:g.47975449C>T	TOPMed
rs551400443	p.Ala1253Thr	missense variant	-	NC_000012.12:g.47975446C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs149903770	p.Glu1254Val	missense variant	-	NC_000012.12:g.47975442T>A	ESP,ExAC,gnomAD
rs373684149	p.Glu1254Gln	missense variant	-	NC_000012.12:g.47975443C>G	ESP,ExAC,TOPMed,gnomAD
rs373684149	p.Glu1254Lys	missense variant	-	NC_000012.12:g.47975443C>T	ESP,ExAC,TOPMed,gnomAD
rs1169999705	p.Ala1257Gly	missense variant	-	NC_000012.12:g.47975433G>C	gnomAD
rs1431107862	p.Thr1258Lys	missense variant	-	NC_000012.12:g.47975430G>T	TOPMed
rs370247812	p.Ser1261Phe	missense variant	-	NC_000012.12:g.47975421G>A	ESP,ExAC,TOPMed,gnomAD
rs1242187411	p.Asn1263Lys	missense variant	-	NC_000012.12:g.47975414G>T	gnomAD
rs1183855969	p.Asn1264Lys	missense variant	-	NC_000012.12:g.47975411G>T	gnomAD
RCV000179086	p.Asn1264Ter	frameshift	-	NC_000012.12:g.47975411_47975414del	ClinVar
rs770394385	p.Gln1265His	missense variant	-	NC_000012.12:g.47975408C>A	ExAC,gnomAD
rs374360275	p.Ser1268Arg	missense variant	-	NC_000012.12:g.47975401T>G	ESP,ExAC,TOPMed,gnomAD
rs374360275	p.Ser1268Gly	missense variant	-	NC_000012.12:g.47975401T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1268Asn	missense variant	-	NC_000012.12:g.47975400C>T	NCI-TCGA
rs1197381768	p.Ile1269Thr	missense variant	-	NC_000012.12:g.47975397A>G	TOPMed,gnomAD
rs771631501	p.Arg1270His	missense variant	-	NC_000012.12:g.47975394C>T	ExAC,TOPMed,gnomAD
rs886049444	p.Arg1270Cys	missense variant	-	NC_000012.12:g.47975395G>A	gnomAD
RCV000334965	p.Arg1270Cys	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47975395G>A	ClinVar
RCV000279838	p.Arg1270Cys	missense variant	Type II Collagenopathies	NC_000012.12:g.47975395G>A	ClinVar
rs1226449887	p.Pro1272Ser	missense variant	-	NC_000012.12:g.47975389G>A	TOPMed,gnomAD
COSM6072576	p.Pro1272Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47975389G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1272His	missense variant	-	NC_000012.12:g.47975388G>T	NCI-TCGA
rs778838205	p.Glu1273Lys	missense variant	-	NC_000012.12:g.47975386C>T	ExAC,TOPMed,gnomAD
rs201635345	p.Gly1274Arg	missense variant	-	NC_000012.12:g.47975383C>G	1000Genomes
rs142168567	p.Arg1276His	missense variant	-	NC_000012.12:g.47975376C>T	ESP,ExAC,TOPMed,gnomAD
rs369672046	p.Arg1276Cys	missense variant	-	NC_000012.12:g.47975377G>A	ESP,ExAC,gnomAD
rs369672046	p.Arg1276Gly	missense variant	-	NC_000012.12:g.47975377G>C	ESP,ExAC,gnomAD
rs142168567	p.Arg1276Leu	missense variant	-	NC_000012.12:g.47975376C>A	ESP,ExAC,TOPMed,gnomAD
rs898197715	p.Pro1279Ser	missense variant	-	NC_000012.12:g.47975368G>A	TOPMed
rs763097721	p.Arg1281His	missense variant	-	NC_000012.12:g.47975361C>T	ExAC,TOPMed,gnomAD
rs764309847	p.Arg1281Cys	missense variant	-	NC_000012.12:g.47975362G>A	ExAC,gnomAD
RCV000366271	p.Arg1281His	missense variant	-	NC_000012.12:g.47975361C>T	ClinVar
rs765581527	p.Arg1284Lys	missense variant	-	NC_000012.12:g.47975352C>T	ExAC,gnomAD
rs1006482371	p.Asp1285Glu	missense variant	-	NC_000012.12:g.47975348G>T	TOPMed,gnomAD
rs777098611	p.Pro1291Ser	missense variant	-	NC_000012.12:g.47975332G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1292Lys	missense variant	-	NC_000012.12:g.47975329C>T	NCI-TCGA
NCI-TCGA novel	p.Glu1292Gln	missense variant	-	NC_000012.12:g.47975329C>G	NCI-TCGA
rs1555164672	p.Trp1293Ter	stop gained	-	NC_000012.12:g.47975324C>T	-
RCV000624506	p.Trp1293Ter	nonsense	Inborn genetic diseases	NC_000012.12:g.47975324C>T	ClinVar
rs1299283833	p.Gly1296Ala	missense variant	-	NC_000012.12:g.47974862C>G	gnomAD
rs546672421	p.Gly1296Arg	missense variant	-	NC_000012.12:g.47975317C>G	1000Genomes,ExAC,gnomAD
RCV000385344	p.Gly1296Arg	missense variant	-	NC_000012.12:g.47975317C>G	ClinVar
rs761073811	p.Asp1297Asn	missense variant	-	NC_000012.12:g.47974860C>T	ExAC,TOPMed,gnomAD
rs1034850489	p.Tyr1298His	missense variant	-	NC_000012.12:g.47974857A>G	TOPMed
COSM3461231	p.Trp1299Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47974853C>T	NCI-TCGA Cosmic
rs556788032	p.Ile1300Val	missense variant	-	NC_000012.12:g.47974851T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM939733	p.Gln1304Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974838T>C	NCI-TCGA Cosmic
rs121912887	p.Gly1305Ala	missense variant	-	NC_000012.12:g.47974835C>G	gnomAD
rs121912887	p.Gly1305Asp	missense variant	-	NC_000012.12:g.47974835C>T	gnomAD
rs121912887	p.Gly1305Asp	missense variant	-	NC_000012.12:g.47974835C>T	UniProt,dbSNP
VAR_023934	p.Gly1305Asp	missense variant	-	NC_000012.12:g.47974835C>T	UniProt
RCV000018930	p.Gly1305Asp	missense variant	Vitreoretinopathy with phalangeal epiphyseal dysplasia	NC_000012.12:g.47974835C>T	ClinVar
rs761461081	p.Thr1307Asn	missense variant	-	NC_000012.12:g.47974829G>T	ExAC,TOPMed,gnomAD
rs761461081	p.Thr1307Ile	missense variant	-	NC_000012.12:g.47974829G>A	ExAC,TOPMed,gnomAD
COSM3461229	p.Asp1309Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974824C>T	NCI-TCGA Cosmic
rs768451951	p.Ala1310Thr	missense variant	-	NC_000012.12:g.47974821C>T	ExAC,TOPMed,gnomAD
COSM693827	p.Ala1310Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974820G>C	NCI-TCGA Cosmic
rs768451951	p.Ala1310Ser	missense variant	-	NC_000012.12:g.47974821C>A	ExAC,TOPMed,gnomAD
rs200005378	p.Met1311Val	missense variant	-	NC_000012.12:g.47974818T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200005378	p.Met1311Leu	missense variant	-	NC_000012.12:g.47974818T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146035198	p.Lys1312Ter	stop gained	-	NC_000012.12:g.47974815T>A	ESP,TOPMed
rs745788222	p.Lys1312Asn	missense variant	-	NC_000012.12:g.47974813C>A	ExAC,gnomAD
COSM5929389	p.Val1313Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974812C>T	NCI-TCGA Cosmic
COSM939731	p.Val1313Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974811A>G	NCI-TCGA Cosmic
rs527236144	p.Cys1315Gly	missense variant	-	NC_000012.12:g.47974806A>C	-
RCV000190277	p.Cys1315Gly	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSDT)	NC_000012.12:g.47974806A>C	ClinVar
rs1201540358	p.Met1317Val	missense variant	-	NC_000012.12:g.47974800T>C	TOPMed,gnomAD
rs781229123	p.Glu1318Lys	missense variant	-	NC_000012.12:g.47974797C>T	ExAC,gnomAD
RCV000727461	p.Glu1318Lys	missense variant	-	NC_000012.12:g.47974797C>T	ClinVar
NCI-TCGA novel	p.Thr1319Ser	missense variant	-	NC_000012.12:g.47974793G>C	NCI-TCGA
rs748248022	p.Glu1321Lys	missense variant	-	NC_000012.12:g.47974788C>T	ExAC,TOPMed,gnomAD
RCV000345266	p.Glu1321Lys	missense variant	-	NC_000012.12:g.47974788C>T	ClinVar
COSM4042161	p.Cys1323Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974781C>A	NCI-TCGA Cosmic
rs755207565	p.Val1324Ile	missense variant	-	NC_000012.12:g.47974779C>T	ExAC,TOPMed,gnomAD
rs754118463	p.Tyr1325Cys	missense variant	-	NC_000012.12:g.47974775T>C	ExAC,gnomAD
rs766648807	p.Pro1326His	missense variant	-	NC_000012.12:g.47974772G>T	ExAC,gnomAD
rs1254282445	p.Pro1326Ser	missense variant	-	NC_000012.12:g.47974773G>A	TOPMed
rs1265043208	p.Asn1327Ser	missense variant	-	NC_000012.12:g.47974769T>C	TOPMed,gnomAD
rs1217363397	p.Pro1328Leu	missense variant	-	NC_000012.12:g.47974766G>A	gnomAD
rs1217363397	p.Pro1328Arg	missense variant	-	NC_000012.12:g.47974766G>C	gnomAD
rs1326301441	p.Ala1329Val	missense variant	-	NC_000012.12:g.47974763G>A	gnomAD
rs12721427	p.Val1331Ile	missense variant	-	NC_000012.12:g.47974758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000250399	p.Val1331Ile	missense variant	-	NC_000012.12:g.47974758C>T	ClinVar
rs1468872205	p.Asn1335Ser	missense variant	-	NC_000012.12:g.47974745T>C	gnomAD
RCV000760586	p.Trp1336Ter	nonsense	-	NC_000012.12:g.47974741C>T	ClinVar
rs763777663	p.Lys1340Asn	missense variant	-	NC_000012.12:g.47974729C>G	ExAC,gnomAD
rs927945133	p.Lys1340Glu	missense variant	-	NC_000012.12:g.47974731T>C	TOPMed
rs200488859	p.Lys1340Arg	missense variant	-	NC_000012.12:g.47974730T>C	1000Genomes,ExAC,gnomAD
rs1480368696	p.Lys1342Glu	missense variant	-	NC_000012.12:g.47974725T>C	TOPMed
NCI-TCGA novel	p.Glu1343Asp	missense variant	-	NC_000012.12:g.47974720C>G	NCI-TCGA
rs1173383933	p.Lys1345Glu	missense variant	-	NC_000012.12:g.47974716T>C	TOPMed
rs775279845	p.Lys1345Thr	missense variant	-	NC_000012.12:g.47974715T>G	ExAC,TOPMed,gnomAD
rs1400106095	p.Glu1351Lys	missense variant	-	NC_000012.12:g.47974698C>T	-
NCI-TCGA novel	p.Glu1351Ter	stop gained	-	NC_000012.12:g.47974698C>A	NCI-TCGA
NCI-TCGA novel	p.Thr1352Ala	missense variant	-	NC_000012.12:g.47974695T>C	NCI-TCGA
COSM693829	p.Ile1353Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974692T>C	NCI-TCGA Cosmic
rs200621622	p.Asn1354Ile	missense variant	-	NC_000012.12:g.47974688T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200621622	p.Asn1354Ser	missense variant	-	NC_000012.12:g.47974688T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201646745	p.Gly1355Asp	missense variant	-	NC_000012.12:g.47974685C>T	ESP,ExAC,TOPMed,gnomAD
RCV000079727	p.Gly1355Asp	missense variant	-	NC_000012.12:g.47974685C>T	ClinVar
RCV000378068	p.Gly1355Asp	missense variant	Type II Collagenopathies	NC_000012.12:g.47974685C>T	ClinVar
RCV000283561	p.Gly1355Asp	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974685C>T	ClinVar
rs749485192	p.His1358Arg	missense variant	-	NC_000012.12:g.47974676T>C	ExAC,TOPMed,gnomAD
rs1363571034	p.Tyr1361Cys	missense variant	-	NC_000012.12:g.47974324T>C	gnomAD
COSM4398367	p.Gly1362Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974321C>T	NCI-TCGA Cosmic
rs764741063	p.Asp1363Gly	missense variant	-	NC_000012.12:g.47974318T>C	ExAC,gnomAD
rs766131966	p.Asp1364Glu	missense variant	-	NC_000012.12:g.47974314G>T	ExAC,TOPMed,gnomAD
rs374577959	p.Asp1364Asn	missense variant	-	NC_000012.12:g.47974316C>T	ESP,ExAC,TOPMed,gnomAD
rs202105427	p.Asn1365Tyr	missense variant	-	NC_000012.12:g.47974313T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773088354	p.Asn1365Ser	missense variant	-	NC_000012.12:g.47974312T>C	ExAC,gnomAD
rs773088354	p.Asn1365Ile	missense variant	-	NC_000012.12:g.47974312T>A	ExAC,gnomAD
rs762876704	p.Ala1367Pro	missense variant	-	NC_000012.12:g.47974307C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala1367Ser	missense variant	-	NC_000012.12:g.47974307C>A	NCI-TCGA
rs775650170	p.Pro1368Ser	missense variant	-	NC_000012.12:g.47974304G>A	ExAC,TOPMed,gnomAD
rs149375186	p.Pro1368Leu	missense variant	-	NC_000012.12:g.47974303G>A	ESP,ExAC,TOPMed,gnomAD
rs777030211	p.Thr1370Ile	missense variant	-	NC_000012.12:g.47974297G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1371Val	missense variant	-	NC_000012.12:g.47974294G>A	NCI-TCGA
rs771399441	p.Asn1372Ser	missense variant	-	NC_000012.12:g.47974291T>C	ExAC,gnomAD
rs778382364	p.Val1373Ile	missense variant	-	NC_000012.12:g.47974289C>T	ExAC,TOPMed,gnomAD
RCV000357617	p.Val1373Ile	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974289C>T	ClinVar
RCV000272004	p.Val1373Ile	missense variant	Type II Collagenopathies	NC_000012.12:g.47974289C>T	ClinVar
rs1405375600	p.Thr1376Ser	missense variant	-	NC_000012.12:g.47974279G>C	TOPMed,gnomAD
rs1405375600	p.Thr1376Asn	missense variant	-	NC_000012.12:g.47974279G>T	TOPMed,gnomAD
rs1405375600	p.Thr1376Ile	missense variant	-	NC_000012.12:g.47974279G>A	TOPMed,gnomAD
rs144742519	p.Phe1377Leu	missense variant	-	NC_000012.12:g.47974275G>C	ExAC,gnomAD
COSM939729	p.Leu1378Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974274G>T	NCI-TCGA Cosmic
rs141951587	p.Arg1379Cys	missense variant	-	NC_000012.12:g.47974271G>A	ESP,ExAC,TOPMed,gnomAD
RCV000520302	p.Arg1379Cys	missense variant	-	NC_000012.12:g.47974271G>A	ClinVar
rs754487319	p.Arg1379His	missense variant	-	NC_000012.12:g.47974270C>T	ExAC,TOPMed,gnomAD
rs141951587	p.Arg1379Ser	missense variant	-	NC_000012.12:g.47974271G>T	ESP,ExAC,TOPMed,gnomAD
rs138498898	p.Thr1383Met	missense variant	-	NC_000012.12:g.47974258G>A	ESP,ExAC,TOPMed,gnomAD
RCV000022484	p.Thr1383Met	missense variant	Avascular necrosis of the head of femur (ANFH1)	NC_000012.12:g.47974258G>A	ClinVar
rs1200816320	p.Glu1384Lys	missense variant	-	NC_000012.12:g.47974256C>T	gnomAD
rs767382058	p.Gly1385Asp	missense variant	-	NC_000012.12:g.47974252C>T	ExAC,TOPMed,gnomAD
rs767382058	p.Gly1385Ala	missense variant	-	NC_000012.12:g.47974252C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1388Lys	missense variant	-	NC_000012.12:g.47974242G>C	NCI-TCGA
rs1161207534	p.Thr1390Ile	missense variant	-	NC_000012.12:g.47974237G>A	TOPMed,gnomAD
VAR_024822	p.Thr1390Asn	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
rs121912889	p.Tyr1391Cys	missense variant	-	NC_000012.12:g.47974234T>C	-
rs121912889	p.Tyr1391Cys	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)	NC_000012.12:g.47974234T>C	UniProt,dbSNP
VAR_023935	p.Tyr1391Cys	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)	NC_000012.12:g.47974234T>C	UniProt
RCV000022482	p.Tyr1391Cys	missense variant	Spondyloperipheral dysplasia	NC_000012.12:g.47974234T>C	ClinVar
RCV000018931	p.Tyr1391Cys	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSDT)	NC_000012.12:g.47974234T>C	ClinVar
rs1446139943	p.Asn1395Ser	missense variant	-	NC_000012.12:g.47974222T>C	gnomAD
COSM939727	p.Ser1396Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974219C>T	NCI-TCGA Cosmic
rs774218205	p.Ala1398Val	missense variant	-	NC_000012.12:g.47974213G>A	ExAC,gnomAD
RCV000596206	p.Tyr1399Ter	frameshift	-	NC_000012.12:g.47974201_47974211delinsGGCAATGCT	ClinVar
rs759583931	p.Glu1402Lys	missense variant	-	NC_000012.12:g.47974202C>T	ExAC,TOPMed,gnomAD
RCV000247508	p.Gly1405Ser	missense variant	-	NC_000012.12:g.47974193C>T	ClinVar
rs2070739	p.Gly1405Ser	missense variant	-	NC_000012.12:g.47974193C>T	UniProt,dbSNP
VAR_033785	p.Gly1405Ser	missense variant	-	NC_000012.12:g.47974193C>T	UniProt
rs2070739	p.Gly1405Ser	missense variant	-	NC_000012.12:g.47974193C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4042159	p.Lys1408Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974183T>C	NCI-TCGA Cosmic
rs1057524467	p.Ala1410Thr	missense variant	-	NC_000012.12:g.47974178C>T	-
RCV000436848	p.Ala1410Thr	missense variant	-	NC_000012.12:g.47974178C>T	ClinVar
NCI-TCGA novel	p.Leu1411Pro	missense variant	-	NC_000012.12:g.47974174A>G	NCI-TCGA
NCI-TCGA novel	p.Leu1412His	missense variant	-	NC_000012.12:g.47974171A>T	NCI-TCGA
rs1327296939	p.Gln1414Arg	missense variant	-	NC_000012.12:g.47974165T>C	gnomAD
rs557405437	p.Ser1416Phe	missense variant	-	NC_000012.12:g.47974159G>A	1000Genomes,ExAC,gnomAD
rs537186508	p.Asn1417Ser	missense variant	-	NC_000012.12:g.47974156T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000354121	p.Asn1417Ser	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974156T>C	ClinVar
RCV000315540	p.Asn1417Ser	missense variant	Type II Collagenopathies	NC_000012.12:g.47974156T>C	ClinVar
NCI-TCGA novel	p.Asn1417Tyr	missense variant	-	NC_000012.12:g.47974157T>A	NCI-TCGA
rs1419285230	p.Asp1418Asn	missense variant	-	NC_000012.12:g.47974154C>T	TOPMed
rs1308668773	p.Val1419Ala	missense variant	-	NC_000012.12:g.47974150A>G	gnomAD
rs371226850	p.Val1419Met	missense variant	-	NC_000012.12:g.47974151C>T	ESP,ExAC,TOPMed,gnomAD
rs1471246746	p.Glu1420Ala	missense variant	-	NC_000012.12:g.47974147T>G	gnomAD
COSM4042157	p.Ile1421Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974144A>G	NCI-TCGA Cosmic
rs745349011	p.Arg1422Gln	missense variant	-	NC_000012.12:g.47974141C>T	ExAC,TOPMed,gnomAD
rs754466377	p.Arg1422Trp	missense variant	-	NC_000012.12:g.47974142G>A	ExAC,TOPMed,gnomAD
rs745349011	p.Arg1422Leu	missense variant	-	NC_000012.12:g.47974141C>A	ExAC,TOPMed,gnomAD
RCV000396722	p.Arg1422Trp	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974142G>A	ClinVar
RCV000422902	p.Arg1422Gln	missense variant	-	NC_000012.12:g.47974141C>T	ClinVar
RCV000350564	p.Arg1422Trp	missense variant	Type II Collagenopathies	NC_000012.12:g.47974142G>A	ClinVar
rs1475935660	p.Ala1423Thr	missense variant	-	NC_000012.12:g.47974139C>T	gnomAD
rs989110731	p.Gly1425Ala	missense variant	-	NC_000012.12:g.47974132C>G	TOPMed
rs1309298067	p.Ser1427Arg	missense variant	-	NC_000012.12:g.47974125G>T	TOPMed
rs755779435	p.Ser1427Asn	missense variant	-	NC_000012.12:g.47974126C>T	ExAC,gnomAD
rs147559634	p.Thr1430Met	missense variant	-	NC_000012.12:g.47974117G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1237429313	p.Thr1432Ala	missense variant	-	NC_000012.12:g.47974112T>C	TOPMed
rs1293471595	p.Lys1435Glu	missense variant	-	NC_000012.12:g.47974103T>C	TOPMed
RCV000179119	p.Asp1436Asn	missense variant	-	NC_000012.12:g.47974100C>T	ClinVar
rs794727757	p.Asp1436Asn	missense variant	-	NC_000012.12:g.47974100C>T	-
rs121912890	p.Cys1438Ter	stop gained	-	NC_000012.12:g.47974092G>T	-
RCV000018934	p.Cys1438Ter	nonsense	Spondyloperipheral dysplasia	NC_000012.12:g.47974092G>T	ClinVar
NCI-TCGA novel	p.Cys1438AlaPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47974095G>-	NCI-TCGA
rs121912886	p.Thr1439Lys	missense variant	-	NC_000012.12:g.47974090G>T	ExAC,TOPMed,gnomAD
rs121912886	p.Thr1439Met	missense variant	-	NC_000012.12:g.47974090G>A	ExAC,TOPMed,gnomAD
RCV000190574	p.Thr1439Met	missense variant	Spondyloperipheral dysplasia	NC_000012.12:g.47974090G>A	ClinVar
rs121912886	p.Thr1439Met	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47974090G>A	UniProt,dbSNP
VAR_017105	p.Thr1439Met	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47974090G>A	UniProt
rs766537396	p.Lys1440Asn	missense variant	-	NC_000012.12:g.47973551T>A	ExAC,TOPMed,gnomAD
rs750624540	p.Thr1442Ile	missense variant	-	NC_000012.12:g.47973546G>A	ExAC,gnomAD
rs78690642	p.Gly1443Ser	missense variant	-	NC_000012.12:g.47973544C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000597223	p.Gly1443Ser	missense variant	-	NC_000012.12:g.47973544C>T	ClinVar
RCV000597827	p.Gly1443Ter	frameshift	-	NC_000012.12:g.47973544del	ClinVar
RCV000018933	p.Gly1446Ter	frameshift	Spondyloperipheral dysplasia	NC_000012.12:g.47973537del	ClinVar
NCI-TCGA novel	p.Gly1446Asp	missense variant	-	NC_000012.12:g.47973534C>T	NCI-TCGA
rs1443585376	p.Lys1447Arg	missense variant	-	NC_000012.12:g.47973531T>C	gnomAD
rs1481212897	p.Thr1448Ser	missense variant	-	NC_000012.12:g.47973528G>C	TOPMed,gnomAD
VAR_024823	p.Thr1448Pro	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
rs113238468	p.Ile1450Phe	missense variant	-	NC_000012.12:g.47973523T>A	ExAC,TOPMed,gnomAD
rs113238468	p.Ile1450Val	missense variant	-	NC_000012.12:g.47973523T>C	ExAC,TOPMed,gnomAD
rs776015253	p.Glu1451Lys	missense variant	-	NC_000012.12:g.47973520C>T	ExAC,TOPMed,gnomAD
rs769267684	p.Glu1451Gly	missense variant	-	NC_000012.12:g.47973519T>C	ExAC,TOPMed,gnomAD
rs745401764	p.Tyr1452Cys	missense variant	-	NC_000012.12:g.47973516T>C	ExAC,TOPMed,gnomAD
rs776306214	p.Arg1453Trp	missense variant	-	NC_000012.12:g.47973514G>A	ExAC,TOPMed,gnomAD
rs770494878	p.Arg1453Gln	missense variant	-	NC_000012.12:g.47973513C>T	ExAC,gnomAD
rs1001705800	p.Gln1455Arg	missense variant	-	NC_000012.12:g.47973507T>C	TOPMed
rs1555164217	p.Gln1455Ter	stop gained	-	NC_000012.12:g.47973508G>A	-
RCV000522004	p.Gln1455Ter	nonsense	-	NC_000012.12:g.47973508G>A	ClinVar
rs777416478	p.Arg1459His	missense variant	-	NC_000012.12:g.47973495C>T	ExAC,TOPMed,gnomAD
rs148838496	p.Arg1459Cys	missense variant	-	NC_000012.12:g.47973496G>A	ESP,ExAC,TOPMed,gnomAD
rs148838496	p.Arg1459Cys	missense variant	-	NC_000012.12:g.47973496G>A	UniProt,dbSNP
VAR_079748	p.Arg1459Cys	missense variant	-	NC_000012.12:g.47973496G>A	UniProt
RCV000402928	p.Arg1459Cys	missense variant	Type II Collagenopathies	NC_000012.12:g.47973496G>A	ClinVar
RCV000312017	p.Arg1459Cys	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47973496G>A	ClinVar
NCI-TCGA novel	p.Pro1461Thr	missense variant	-	NC_000012.12:g.47973490G>T	NCI-TCGA
rs1490116358	p.Ile1463Val	missense variant	-	NC_000012.12:g.47973484T>C	gnomAD
rs1224083058	p.Ile1463Met	missense variant	-	NC_000012.12:g.47973482A>C	TOPMed,gnomAD
rs748077700	p.Ile1463Thr	missense variant	-	NC_000012.12:g.47973483A>G	ExAC,gnomAD
rs779016210	p.Pro1467Ser	missense variant	-	NC_000012.12:g.47973472G>A	ExAC,gnomAD
VAR_024824	p.Asp1469His	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
rs767724615	p.Ile1470Val	missense variant	-	NC_000012.12:g.47973463T>C	ExAC,TOPMed,gnomAD
rs1281892244	p.Gly1471Arg	missense variant	-	NC_000012.12:g.47973460C>G	gnomAD
COSM3461223	p.Gly1471Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47973460C>T	NCI-TCGA Cosmic
rs773418634	p.Gly1472Glu	missense variant	-	NC_000012.12:g.47973456C>T	-
rs763352763	p.Gly1472Arg	missense variant	-	NC_000012.12:g.47973457C>G	ExAC,TOPMed,gnomAD
rs763352763	p.Gly1472Trp	missense variant	-	NC_000012.12:g.47973457C>A	ExAC,TOPMed,gnomAD
RCV000179142	p.Gly1472Arg	missense variant	-	NC_000012.12:g.47973457C>G	ClinVar
NCI-TCGA novel	p.Pro1473Ala	missense variant	-	NC_000012.12:g.47973454G>C	NCI-TCGA
NCI-TCGA novel	p.Pro1473GlnPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.47973453_47973454insACTTTTCT	NCI-TCGA
rs369696920	p.Glu1474Asp	missense variant	-	NC_000012.12:g.47973449C>G	ESP,ExAC,TOPMed,gnomAD
rs540750398	p.Glu1474Gln	missense variant	-	NC_000012.12:g.47973451C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs540750398	p.Glu1474Lys	missense variant	-	NC_000012.12:g.47973451C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1400762548	p.Gly1478Ser	missense variant	-	NC_000012.12:g.47973439C>T	TOPMed,gnomAD
rs1414146646	p.Val1479Ala	missense variant	-	NC_000012.12:g.47973435A>G	gnomAD
rs772969125	p.Asp1480Asn	missense variant	-	NC_000012.12:g.47973433C>T	ExAC,gnomAD
rs376442872	p.Pro1483Leu	missense variant	-	NC_000012.12:g.47973423G>A	ESP,ExAC,TOPMed,gnomAD
rs1406745245	p.Pro1483Ala	missense variant	-	NC_000012.12:g.47973424G>C	TOPMed,gnomAD
RCV000179141	p.Pro1483Ter	frameshift	-	NC_000012.12:g.47973423_47973426del	ClinVar
VAR_024825	p.Val1484del	inframe_deletion	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
RCV000853298	p.Cys1485Arg	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47973418A>G	ClinVar
RCV000733654	p.Cys1485Arg	missense variant	-	NC_000012.12:g.47973418A>G	ClinVar
VAR_024826	p.Cys1485Gly	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000731	Abdomen distended	phenotype	HPO
C0000768	Congenital Abnormality	group	BEFREE
C0001079	Achondrogenesis	disease	BEFREE
C0001080	Achondroplasia	disease	BEFREE
C0003706	Arachnodactyly	disease	HPO
C0003862	Arthralgia	phenotype	HPO
C0003864	Arthritis	disease	BEFREE;CTD_human
C0003865	Arthritis, Adjuvant-Induced	disease	CTD_human
C0003873	Rheumatoid Arthritis	disease	CTD_human;LHGDN
C0005974	Bone Resorption	phenotype	CTD_human
C0007102	Malignant tumor of colon	disease	BEFREE
C0007302	Cartilage Diseases	group	BEFREE;CTD_human
C0008449	Congenital anomaly of cartilage	group	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE;CTD_human
C0008925	Cleft Palate	disease	BEFREE;CTD_human
C0009081	Congenital clubfoot	disease	HPO
C0009319	Colitis	disease	BEFREE
C0009326	Collagen Diseases	group	BEFREE
C0009375	Colonic Neoplasms	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009917	Contracture	group	HPO
C0009918	Contracture of joint	phenotype	HPO
C0011053	Deafness	phenotype	HPO
C0011195	Dejerine-Sottas Disease (disorder)	disease	BEFREE
C0012691	Dislocations	group	HPO
C0013336	Dwarfism	disease	BEFREE;HPO
C0013366	Dyschondroplasias	disease	CTD_human
C0013404	Dyspnea	phenotype	HPO
C0013604	Edema	phenotype	CTD_human;HPO
C0013720	Ehlers-Danlos Syndrome	disease	BEFREE;GENOMICS_ENGLAND
C0014084	Enchondromatosis	disease	HPO
C0015300	Exophthalmos	disease	HPO
C0015814	Femur Head Necrosis	disease	CTD_human
C0015927	Fetal Death	phenotype	HPO
C0016202	Flatfoot	phenotype	HPO
C0016506	Foot Deformities	group	HPO
C0016655	Fractures, Multiple	group	HPO
C0017601	Glaucoma	disease	HPO
C0018772	Hearing Loss, Partial	phenotype	CLINVAR;HPO
C0018777	Conductive hearing loss	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	BEFREE;CTD_human;HPO;LHGDN
C0018862	Heberden's node	phenotype	HPO
C0019288	Hernia, Femoral	phenotype	HPO
C0019294	Hernia, Inguinal	phenotype	HPO
C0019322	Umbilical hernia	phenotype	HPO
C0019554	Hip Dislocation	phenotype	HPO
C0019555	Hip Dislocation, Congenital	disease	BEFREE;CLINVAR
C0020224	Polyhydramnios	phenotype	HPO
C0020305	Hydrops Fetalis	disease	BEFREE;HPO
C0020507	Hyperplasia	phenotype	CTD_human
C0020534	Orbital separation excessive	phenotype	HPO
C0020676	Hypothyroidism	disease	RGD
C0021368	Inflammation	phenotype	CTD_human
C0022360	Jaw Abnormalities	group	BEFREE
C0022408	Arthropathy	group	BEFREE;HPO
C0022821	Kyphosis deformity of spine	phenotype	HPO
C0023012	Language Delay	phenotype	HPO
C0023221	Leg Length Inequality	phenotype	HPO
C0023234	Legg-Calve-Perthes Disease	disease	BEFREE;CLINVAR;CTD_human;HPO;ORPHANET;UNIPROT
C0024003	Lordosis	phenotype	HPO
C0024796	Marfan Syndrome	disease	BEFREE
C0025202	melanoma	disease	CTD_human
C0025237	Melnick-Needles Syndrome	disease	CTD_human
C0025990	Micrognathism	disease	BEFREE;HPO
C0025995	Micromelia	disease	BEFREE;HPO
C0026034	Microstomia	disease	HPO
C0026267	Mitral Valve Prolapse Syndrome	disease	HPO
C0026707	Mucopolysaccharidosis IV	disease	BEFREE
C0026760	Multiple Epiphyseal Dysplasia	disease	CLINVAR;CTD_human;GENOMICS_ENGLAND
C0027092	Myopia	disease	BEFREE;CLINVAR;CTD_human;HPO
C0029408	Degenerative polyarthritis	disease	BEFREE;CTD_human;GWASDB;HPO;LHGDN
C0029410	Osteoarthritis of hip	disease	BEFREE;HPO;LHGDN
C0029422	Osteochondrodysplasias	group	BEFREE;CTD_human;HPO;LHGDN
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029445	Bone necrosis	phenotype	HPO
C0029883	Otitis Media with Effusion	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0031900	Pierre Robin Syndrome	disease	BEFREE;HPO
C0032927	Precancerous Conditions	group	BEFREE
C0035305	Retinal Detachment	disease	BEFREE;CTD_human;HPO;LHGDN
C0035309	Retinal Diseases	group	HPO
C0035313	Retinal Dysplasia	disease	HPO
C0035334	Retinitis Pigmentosa	disease	BEFREE
C0036391	Schwartz-Jampel Syndrome	disease	CTD_human
C0037932	Curvature of spine	phenotype	CLINVAR;HPO
C0038015	Spondyloepiphyseal Dysplasia	disease	BEFREE;CLINVAR;CTD_human;HPO
C0039103	Synovitis	disease	CTD_human;LHGDN
C0040560	Toxoplasmosis, Congenital	disease	BEFREE;LHGDN
C0040580	Tracheal Diseases	group	BEFREE
C0041834	Erythema	phenotype	CTD_human
C0085581	Restrictive lung disease	disease	HPO
C0085660	Aseptic necrosis	phenotype	HPO
C0085700	Chondromalacia	disease	CTD_human
C0086543	Cataract	disease	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO
C0086743	Osteoarthrosis Deformans	disease	CTD_human
C0149645	Cervical myelopathy	disease	HPO
C0151315	Neck stiffness	phenotype	HPO
C0151603	Anasarca	phenotype	CTD_human
C0152439	Retinoschisis	disease	BEFREE
C0155366	Vitreous degeneration	disease	BEFREE
C0155552	Hearing Loss, Mixed Conductive-Sensorineural	disease	HPO
C0157946	Osteoarthrosis, localized, not specified whether primary or secondary	disease	RGD
C0158266	Intervertebral Disc Degeneration	disease	BEFREE
C0158564	Congenital vitreous anomaly	disease	BEFREE
C0158731	Congenital pectus carinatum	disease	HPO
C0162298	Joint stiffness	phenotype	HPO
C0162323	Polyarthritis	disease	CTD_human
C0206620	Lymphangioma, Cystic	disease	HPO
C0206637	Mesenchymal Chondrosarcoma	disease	LHGDN
C0220685	Achondrogenesis type 2	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0220726	Diastrophic dysplasia	disease	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221357	Brachydactyly	disease	BEFREE;HPO
C0231712	Waddling gait	phenotype	HPO
C0233715	Speech impairment	phenotype	HPO
C0234958	Muscle degeneration	disease	HPO
C0239137	Coxa valga	phenotype	HPO
C0239138	Hip joint varus deformity - observation	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239399	Short extremities	phenotype	HPO
C0239479	Round face	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240543	Bulbous nose	phenotype	HPO
C0241210	Speech Delay	phenotype	HPO
C0260662	Hearing problem	group	BEFREE
C0262361	Growth abnormality	phenotype	HPO
C0262444	Abnormality of the dentition	phenotype	HPO
C0263746	Osteoarthritis of the hand	disease	BEFREE
C0263870	Narrowing of intervertebral disc space	phenotype	HPO
C0264112	Wedging of vertebra	disease	HPO
C0264133	Acquired flat foot	phenotype	HPO
C0264142	Spade-like hand	disease	HPO
C0264172	Barrel chest	phenotype	HPO
C0265252	Coffin-Lowry syndrome	disease	BEFREE
C0265253	Stickler syndrome (disorder)	disease	BEFREE;CLINVAR
C0265255	Trichorhinophalangeal syndrome	disease	BEFREE
C0265279	Kniest dysplasia	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0265294	Pyle metaphyseal dysplasia	disease	HPO
C0265783	Congenital hypoplasia of lung	disease	HPO
C0265998	ANONYCHIA	disease	HPO
C0267048	Glossoptosis	disease	HPO
C0268000	Body fluid retention	phenotype	HPO
C0268336	Ehlers-Danlos syndrome type 2	disease	BEFREE
C0268357	Osteogenesis imperfecta, type 1A	disease	BEFREE
C0268358	Osteogenesis imperfecta, dominant perinatal lethal	disease	BEFREE
C0270948	Neurogenic Muscular Atrophy	phenotype	HPO
C0271055	Rhegmatogenous retinal detachment	disease	BEFREE;HPO
C0271183	Severe myopia	disease	BEFREE
C0271215	Blindness, Legal	disease	HPO
C0275544	Congenital infectious disease	group	BEFREE
C0333068	Flexion contracture	phenotype	HPO
C0333641	Atrophic	phenotype	LHGDN
C0334583	Pilocytic Astrocytoma	disease	BEFREE
C0338106	Adenocarcinoma of colon	disease	BEFREE
C0339546	Retinal Pigment Epithelial Detachment	disease	CTD_human
C0339789	Congenital deafness	disease	HPO
C0343284	Chondrodysplasia	disease	BEFREE
C0344290	Vitreoretinal degeneration	disease	BEFREE;HPO
C0345050	Congenital aneurysm of ascending aorta	disease	GENOMICS_ENGLAND
C0345375	Congenital hypoplasia of femur	disease	HPO
C0349588	Short stature	phenotype	CLINVAR;HPO
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392476	Epiphyseal dysplasia	disease	HPO
C0409354	Flexion contracture of hip	phenotype	HPO
C0409952	Idiopathic osteoarthritis	disease	BEFREE
C0409959	Osteoarthritis, Knee	disease	BEFREE;HPO
C0410480	Avascular Necrosis of Femur Head	phenotype	CLINVAR;CTD_human;ORPHANET;UNIPROT
C0410528	Skeletal dysplasia	disease	BEFREE
C0410574	Synovial Hypertrophy	disease	CTD_human
C0410606	Cervical Disc Degenerative Disorder	disease	RGD
C0410632	Schmorl's nodes	disease	HPO
C0426414	Small nose	phenotype	HPO
C0426789	Short thorax	phenotype	HPO
C0426790	Narrow thorax	phenotype	CLINVAR;HPO
C0426817	Short ribs	phenotype	CLINVAR;HPO
C0426818	Thin rib	phenotype	HPO
C0426891	Broad thumbs	phenotype	HPO
C0427305	Arthritis by pattern of joint involvement	disease	BEFREE
C0431890	Hypoplasia of thumb	disease	HPO
C0432163	Defect of vertebral segmentation	disease	HPO
C0432211	Spondyloepimetaphyseal disorder	disease	BEFREE;HPO;MGD
C0432214	Namaqualand hip dysplasia	disease	ORPHANET;UNIPROT
C0432215	Progressive pseudorheumatoid dysplasia	disease	BEFREE
C0432221	Spondylometaphyseal dysplasia, 'corner fracture' type	disease	ORPHANET
C0432272	Van Buchem disease	disease	CTD_human
C0432321	Epidermolysis bullosa, pretibial	disease	HPO
C0454644	Delayed speech and language development	phenotype	HPO
C0456909	Blindness	phenotype	HPO
C0476273	Respiratory distress	phenotype	HPO
C0520474	Aseptic Necrosis of Bone	phenotype	HPO
C0521158	Recurrent tumor	phenotype	BEFREE
C0521525	Short neck	phenotype	HPO
C0521707	Bilateral cataracts (disorder)	disease	BEFREE
C0521770	Asteroid hyalosis	disease	HPO
C0524524	Pseudoaphakia	disease	CTD_human
C0524595	Aseptic Necrosis of Femur Head	phenotype	CTD_human
C0541764	Delayed bone age	phenotype	HPO
C0541794	Skeletal muscle atrophy	phenotype	HPO
C0542428	Hypochondrogenesis	disease	BEFREE;CLINVAR;MGD;ORPHANET;UNIPROT
C0544755	Genu varum	phenotype	HPO
C0566888	Narrow sacrosciatic notch	phenotype	HPO
C0575081	Gait abnormality	group	HPO
C0575158	Kyphoscoliosis deformity of spine	phenotype	HPO
C0576093	Knee joint valgus deformity	phenotype	HPO
C0576962	Tooth problem	phenotype	HPO
C0595939	Stillbirth	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0694550	Recurrent pneumonia	phenotype	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0700635	Strudwick syndrome	disease	BEFREE;CLINVAR;CTD_human;HPO;ORPHANET;UNIPROT
C0747085	Recurrent otitis media	disease	HPO
C0748140	Multiple pulmonary infections	disease	HPO
C0796173	Spondyloperipheral dysplasia short ulna	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0876973	Infectious disease of lung	group	HPO
C0877165	Short phalanx of finger	phenotype	HPO
C0877326	Bone infarction	phenotype	HPO
C0878659	Disproportionate short stature	phenotype	HPO
C0948187	Tracheomalacia	disease	HPO
C0949691	Spondylarthropathies	group	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C0971858	Arthritis, Collagen-Induced	disease	CTD_human
C0993582	Arthritis, Experimental	disease	CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1184919	Thoracic kyphosis	phenotype	HPO
C1184923	Lumbar hyperlordosis	phenotype	HPO
C1262477	Weight decreased	phenotype	CTD_human
C1263846	Attention deficit hyperactivity disorder	disease	HPO
C1302401	Adenoma of large intestine	disease	BEFREE
C1328407	Hip Dysplasia	phenotype	BEFREE
C1384584	Generalized osteoarthritis	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1442903	Exostoses	phenotype	HPO
C1456822	Claudication (finding)	disease	BEFREE
C1510497	Lens Opacities	phenotype	CTD_human;HPO
C1519086	Pilomyxoid astrocytoma	disease	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1691779	Sensory hearing loss	disease	CTD_human
C1704356	Enchondroma	disease	BEFREE
C1833752	Varying degree of multiple fractures	phenotype	HPO
C1834118	Potato nose	phenotype	HPO
C1834953	Lumbar kyphoscoliosis	phenotype	HPO
C1834954	Coronal cleft vertebrae	phenotype	HPO
C1834961	Flattened, squared-off epiphyses of tubular bones	phenotype	HPO
C1835121	Premature osteoarthritis	disease	BEFREE;HPO
C1835437	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1835442	Decreased cranial base ossification	phenotype	HPO
C1835444	Disc-like vertebral bodies	phenotype	HPO
C1835446	Severe limb shortening	phenotype	HPO
C1836080	Stickler Syndrome, Type I, Nonsyndromic Ocular	disease	CLINVAR;CTD_human;UNIPROT
C1836081	RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	disease	BEFREE;CLINVAR;ORPHANET;UNIPROT
C1836184	Short femoral neck	phenotype	HPO
C1836195	Short toe	phenotype	HPO
C1836308	Generalized joint laxity	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836674	Short distal phalanx of the 5th finger	phenotype	HPO
C1836683	Czech dysplasia, metatarsal type	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1836688	Narrow iliac wings	phenotype	HPO
C1836940	Thickened nuchal skin fold	phenotype	HPO
C1836996	Disproportionate tall stature	phenotype	HPO
C1837082	Metaphyseal cupping	phenotype	HPO
C1837084	Short metacarpal	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE;CTD_human
C1837260	Prominent forehead	phenotype	HPO
C1837485	Flat acetabular roof	phenotype	HPO
C1837658	Gross motor development delay	disease	HPO
C1837760	Prominent eyes	phenotype	HPO
C1838662	Metaphyseal irregularity	phenotype	HPO
C1839254	Hypoplasia of the capital femoral epiphysis	phenotype	HPO
C1839829	Short distal phalanx of finger	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1840452	Hyaloideoretinal degeneration of Wagner	disease	BEFREE;CTD_human
C1840535	Abnormality of the carpal bones	phenotype	HPO
C1842153	Irregular vertebral endplates	phenotype	HPO
C1842155	Flat capital femoral epiphysis	phenotype	HPO
C1843108	Short palm	phenotype	HPO
C1843479	Neurogenic muscle atrophy, especially in the lower limbs	phenotype	HPO
C1844704	Platyspondyly	phenotype	HPO
C1845112	Hyperkyphosis	phenotype	HPO
C1845847	Coarse facial features	phenotype	HPO
C1846011	Pugilistic facies	phenotype	HPO
C1846154	Anterior rib cupping	phenotype	HPO
C1846434	Hypoplastic scapulae	phenotype	HPO
C1846435	Disproportionate short-trunk short stature	phenotype	HPO
C1846439	Hypoplasia of the odontoid process	phenotype	HPO
C1846442	Hypoplastic acetabulae	phenotype	CLINVAR
C1846797	Short stature, severe disproportionate	phenotype	HPO
C1848296	DOSAGE-SENSITIVE SEX REVERSAL	disease	BEFREE
C1848446	C1-C2 subluxation	phenotype	HPO
C1848488	Pierre Robin syndrome with fetal chondrodysplasia	disease	BEFREE;ORPHANET
C1848490	Protruding eyes	phenotype	HPO
C1848673	Hypoplastic feet	phenotype	HPO
C1849020	Short metatarsal	phenotype	HPO
C1849039	Metaphyseal widening	phenotype	HPO
C1849089	Broad forehead	phenotype	HPO
C1849937	Disproportionate short-limb short stature	phenotype	CLINVAR;HPO
C1849955	Limited elbow movement	phenotype	HPO
C1850135	Flared metaphysis	phenotype	HPO
C1850171	Neonatal short-limb short stature	phenotype	HPO
C1850293	Severe platyspondyly	phenotype	HPO
C1850530	Flexion contractures of joints	phenotype	HPO
C1850658	Irregular femoral epiphysis	phenotype	HPO
C1851536	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1851542	Limited hip movement	phenotype	HPO
C1852989	Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	disease	CLINVAR
C1853241	Flat face	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853743	Muscular hypotonia of the trunk	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1854301	Motor delay	phenotype	HPO
C1854912	Short long bone	phenotype	HPO
C1854928	Protuberant abdomen	phenotype	HPO
C1855310	Megaepiphyseal dwarfism	disease	BEFREE;CTD_human
C1855665	Ovoid vertebral bodies	phenotype	HPO
C1855751	Bulbous nasal tip	phenotype	HPO
C1856468	Round, full face	phenotype	HPO
C1856599	Beaking of vertebral bodies	phenotype	HPO
C1856912	Shortening of all middle phalanges of the fingers	phenotype	HPO
C1857101	Anisospondyly	phenotype	HPO
C1857108	Limitation of joint mobility	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1857299	RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL	disease	BEFREE
C1857527	Flattened epiphysis	phenotype	HPO
C1858079	Osteoarthritis with Mild Chondrodysplasia	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1858085	Malar flattening	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1859111	Enlarged joints	phenotype	HPO
C1859115	Prominent interphalangeal joints	phenotype	HPO
C1859116	Large tarsal bones	phenotype	HPO
C1859117	Recurrent pulmonary infections	phenotype	HPO
C1859447	Hypoplastic ischia	phenotype	HPO
C1859480	Cone-shaped epiphyses of the phalanges of the hand	phenotype	HPO
C1860191	Absent vertebral body mineralization	phenotype	CLINVAR;HPO
C1860493	Abnormality of the sternum	phenotype	HPO
C1860614	ULNAR HYPOPLASIA	phenotype	HPO
C1861218	Hypoplastic ilia	phenotype	HPO
C1861528	Delayed mineralization of pubic bone	phenotype	HPO
C1862102	BRACHYDACTYLY, TYPE E1	phenotype	HPO
C1862132	Short ulnae	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1863739	Narrow femoral neck	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1865027	Hypoplastic iliac wing	phenotype	HPO
C1865030	Hypoplastic pubic bone	phenotype	HPO
C1865037	Cone-shaped epiphysis	phenotype	HPO
C1865200	Delayed epiphyseal ossification	phenotype	HPO
C1866688	Spondylometaphyseal dysplasia, Algerian type	disease	ORPHANET
C1866710	Delayed pubic bone ossification	phenotype	HPO
C1866730	Rhizomelia	disease	HPO
C1867103	Limited elbow extension	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C1956089	Osteophyte	disease	BEFREE
C1968611	Club-shaped proximal femur	phenotype	HPO
C2020284	Stickler syndrome, type 1	disease	BEFREE;CLINVAR;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C2051831	Pectus excavatum	phenotype	HPO
C2673410	Small midface	phenotype	HPO
C2745959	Spondyloepiphyseal dysplasia, congenita	disease	BEFREE;CTD_human;MGD;ORPHANET;UNIPROT
C2749582	Dumbbell-shaped long bone	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3149908	Neonatal short-trunk short stature	phenotype	HPO
C3150077	Mild short stature	phenotype	HPO
C3277124	Prominent joints	phenotype	HPO
C3277226	Restrictive ventilatory defect	phenotype	HPO
C3536734	Hypoplastic pelvis	phenotype	HPO
C3541456	Spondyloepiphyseal Dysplasia Tarda, X-Linked	disease	BEFREE;CTD_human
C3549698	Coxa valga deformity	phenotype	HPO
C3549703	Retinal thinning	phenotype	HPO
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3553764	Joint hyperflexibility	phenotype	HPO
C3714514	Infection	group	LHGDN
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3805574	Increased fracture rate	phenotype	HPO
C3806283	Frequent fractures	phenotype	HPO
C3806510	Horizontal ribs	phenotype	HPO
C3808270	Acetabular spurs	phenotype	HPO
C3887524	Skin Erosion	disease	HPO
C4020803	Abnormal type II collagen	phenotype	BEFREE;HPO
C4020804	Abnormal hyaline collagen	phenotype	HPO
C4020838	Relative short stature	phenotype	HPO
C4020844	Bullet vertebral body	phenotype	HPO
C4020847	Abnormality of pelvic girdle bone morphology	phenotype	HPO
C4020874	No development of motor milestones	phenotype	HPO
C4020907	Metaphyseal dappling	phenotype	HPO
C4020953	Abnormality of vertebral epiphysis morphology	phenotype	HPO
C4020962	Enlarged thorax	phenotype	HPO
C4021259	Limitation of knee mobility	phenotype	HPO
C4021438	Short distal phalanx of the 2nd finger	phenotype	HPO
C4021499	Short distal phalanx of the 4th finger	phenotype	HPO
C4021538	Mild neurosensory hearing impairment	disease	HPO
C4021611	Abnormality of epiphysis morphology	phenotype	HPO
C4021626	Lethal skeletal dysplasia	phenotype	BEFREE;HPO
C4021630	Broad long bones	phenotype	HPO
C4021664	Abnormality of the abdominal wall	phenotype	HPO
C4021681	Short distal phalanx of the 3rd finger	phenotype	HPO
C4021744	Abnormality of the wrist	phenotype	HPO
C4021790	Abnormality of the skeletal system	phenotype	BEFREE
C4021847	Abnormal cartilage collagen	phenotype	HPO
C4021906	Splayed epiphyses	phenotype	HPO
C4021973	Cartilage destruction	phenotype	HPO
C4023175	Submucous cleft soft palate	disease	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024728	Delayed calcaneal ossification	phenotype	HPO
C4024996	Aplasia/Hypoplasia of the lungs	phenotype	HPO
C4025089	Shortening of all proximal phalanges of the fingers	phenotype	HPO
C4025121	Metaphyseal enchondromatosis	phenotype	HPO
C4025254	Absent styloid process of ulna	phenotype	HPO
C4025261	Aplasia/Hypoplasia of the capital femoral epiphysis	phenotype	HPO
C4025356	Abnormality of the vitreous humor	phenotype	HPO
C4025424	Abnormality of ulnar metaphysis	phenotype	HPO
C4025628	Abnormal enchondral ossification	phenotype	HPO
C4025664	Abnormality of fibula morphology	phenotype	HPO
C4025795	Short tubular bones of the hand	phenotype	HPO
C4025814	Abnormality of the metaphysis	phenotype	HPO
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4225273	SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	disease	BEFREE;CLINGEN;CLINVAR;ORPHANET;UNIPROT
C4255213	Increased size of skull	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280411	Delayed maturation fo pubic bone	phenotype	HPO
C4280414	Delayed heel bone maturation	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280565	Delayed maturation of end part of long bone	phenotype	HPO
C4280566	Abnormal development of end part of bone	phenotype	HPO
C4280567	Abnormal skeletal development	phenotype	HPO
C4280607	Small wings of the pelvic girdle	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4280678	Posterior displacement of the tongue	phenotype	HPO
C4302548	Dysspondyloenchondromatosis	disease	ORPHANET
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4479260	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2	disease	ORPHANET
C4520892	Otospondylomegaepiphyseal dysplasia	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005201	extracellular matrix structural constituent	IBA
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA
GO:0030020	extracellular matrix structural constituent conferring tensile strength	IC
GO:0042289	MHC class II protein binding	IPI
GO:0042802	identical protein binding	NAS
GO:0043394	proteoglycan binding	IDA
GO:0046872	metal ion binding	IEA
GO:0048407	platelet-derived growth factor binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IMP
GO:0001501	skeletal system development	IBA
GO:0001502	cartilage condensation	IEA
GO:0001894	tissue homeostasis	IEA
GO:0001958	endochondral ossification	IEA
GO:0002062	chondrocyte differentiation	IEA
GO:0003007	heart morphogenesis	IEA
GO:0006029	proteoglycan metabolic process	IEA
GO:0007417	central nervous system development	IEA
GO:0007601	visual perception	IMP
GO:0007605	sensory perception of sound	IMP
GO:0010468	regulation of gene expression	IEA
GO:0030198	extracellular matrix organization	IBA
GO:0030198	extracellular matrix organization	TAS
GO:0030199	collagen fibril organization	IMP
GO:0030199	collagen fibril organization	IBA
GO:0030903	notochord development	IBA
GO:0042472	inner ear morphogenesis	IEA
GO:0050776	regulation of immune response	TAS
GO:0051216	cartilage development	TAS
GO:0060021	roof of mouth development	IEA
GO:0060174	limb bud formation	IEA
GO:0060272	embryonic skeletal joint morphogenesis	IMP
GO:0060351	cartilage development involved in endochondral bone morphogenesis	IEA
GO:0071599	otic vesicle development	IEA
GO:0071773	cellular response to BMP stimulus	IEA
GO:0097065	anterior head development	IEA
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	HDA
GO:0005576	extracellular region	TAS
GO:0005581	collagen trimer	IBA
GO:0005585	collagen type II trimer	IBA
GO:0005585	collagen type II trimer	IDA
GO:0005604	basement membrane	IEA
GO:0005615	extracellular space	IMP
GO:0005615	extracellular space	IBA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0031012	extracellular matrix	IBA
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1280218	Adaptive Immune System	TAS
R-HSA-1442490	Collagen degradation	IEA
R-HSA-1442490	Collagen degradation	TAS
R-HSA-1474228	Degradation of the extracellular matrix	IEA
R-HSA-1474228	Degradation of the extracellular matrix	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474290	Collagen formation	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS
R-HSA-168256	Immune System	TAS
R-HSA-186797	Signaling by PDGF	TAS
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	TAS
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures	TAS
R-HSA-216083	Integrin cell surface interactions	IEA
R-HSA-216083	Integrin cell surface interactions	TAS
R-HSA-3000171	Non-integrin membrane-ECM interactions	TAS
R-HSA-3000178	ECM proteoglycans	TAS
R-HSA-3000178	ECM proteoglycans	IEA
R-HSA-375165	NCAM signaling for neurite out-growth	TAS
R-HSA-419037	NCAM1 interactions	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-6806834	Signaling by MET	TAS
R-HSA-8874081	MET activates PTK2 signaling	TAS
R-HSA-8875878	MET promotes cell motility	TAS
R-HSA-8948216	Collagen chain trimerization	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of COL2A1 mRNA	28801915
C089215	1-palmitoyl-2-lysophosphatidylcholine	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of 1-palmitoyl-2-lysophosphatidylcholine	24709313
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of COL2A1 mRNA	19114083
C049584	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine results in increased expression of COL2A1 mRNA	15215175
C035208	2-amino-4,6-dinitrotoluene	2-amino-4,6-dinitrotoluene results in decreased expression of COL2A1 mRNA	26251320
C000594958	3,4,5-trihydroxy-N-(4-(thiazol-2-ylsulfamoyl)-phenyl)-benzamide	3,4,5-trihydroxy-N-(4-(thiazol-2-ylsulfamoyl)-phenyl)-benzamide results in increased expression of COL2A1 mRNA	26107568
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of COL2A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL2A1 mRNA	27188386
C507011	A-83-01	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of COL2A1 mRNA	31023824
D000079	Acetaldehyde	Acetaldehyde affects the expression of COL2A1 mRNA	22634333
D000079	Acetaldehyde	Acetaldehyde promotes the reaction [RELA protein binds to COL2A1 promoter]	14722113
D000079	Acetaldehyde	Acetaldehyde results in increased expression of COL2A1 mRNA	14722113
D000082	Acetaminophen	Acetaminophen results in decreased expression of COL2A1 mRNA	17585979
D019342	Acetic Acid	Acetic Acid results in decreased expression of COL2A1 protein	21296659
D000108	Acetylcarnitine	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Acetylcarnitine	24709313
D020106	Acrylamide	Acrylamide results in decreased expression of COL2A1 mRNA	16876394
D000276	Adjuvants, Immunologic	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in decreased activity of CAT protein	27028940
D000276	Adjuvants, Immunologic	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of PTGS2 protein	27028940
D000276	Adjuvants, Immunologic	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of RELA protein	27028940
D000276	Adjuvants, Immunologic	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of TNF protein	27028940
D000276	Adjuvants, Immunologic	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in decreased activity of CAT protein]	27028940
D000276	Adjuvants, Immunologic	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of PTGS2 protein]	27028940
D000276	Adjuvants, Immunologic	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of RELA protein]	27028940
D000276	Adjuvants, Immunologic	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of TNF protein]	27028940
D000481	Allantoin	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin	24709313
D000481	Allantoin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
D000481	Allantoin	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of COL2A1 mRNA	21298039
D000584	Amiloride	Amiloride affects the expression of COL2A1 mRNA	20454829
D000596	Amino Acids	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids	24709313
D000596	Amino Acids	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids	24709313
D000596	Amino Acids	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D000596	Amino Acids	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D000596	Amino Acids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D000596	Amino Acids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D000596	Amino Acids	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D000596	Amino Acids	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of COL2A1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of COL2A1 mRNA	24449571
C015001	arsenite	arsenite results in increased methylation of COL2A1 promoter	23974009
C011669	ascorbate-2-phosphate	ascorbate-2-phosphate results in increased expression of COL2A1 mRNA	11852233
D001205	Ascorbic Acid	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]	26526931
D001205	Ascorbic Acid	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]]	26526931
D001205	Ascorbic Acid	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA	26526931
D001205	Ascorbic Acid	Ascorbic Acid results in increased expression of COL2A1 mRNA	15372504
C030935	benz(a)anthracene	benz(a)anthracene results in decreased expression of COL2A1 mRNA	21635667
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of COL2A1 exon	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of COL2A1 mRNA	20106945; 21632981; 21871943; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of COL2A1 mRNA	21567390; 21569818;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of COL2A1 mRNA	23735875
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of COL2A1 exon	30157460
D019817	Benzoic Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Benzoic Acid	24709313
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of COL2A1 mRNA	21635667
D001599	Berberine	Berberine results in decreased expression of COL2A1 mRNA	26478571
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D001600	Berberine Alkaloids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of COL2A1 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of COL2A1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of COL2A1 mRNA	30075455
C006780	bisphenol A	bisphenol A affects the expression of COL2A1 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of COL2A1 mRNA	26063408
C006780	bisphenol A	bisphenol A results in decreased expression of COL2A1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of COL2A1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased methylation of COL2A1 gene	28505145
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of COL2A1 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of COL2A1 mRNA	30951980
C099813	bromochloroacetic acid	bromochloroacetic acid results in decreased expression of COL2A1 protein	21296659
C038091	butylparaben	butylparaben results in decreased expression of COL2A1 mRNA	28527915
D019256	Cadmium Chloride	Cadmium Chloride affects the reaction [COL2A1 protein results in decreased expression of CAT protein]	26070417
D019256	Cadmium Chloride	Cadmium Chloride affects the reaction [COL2A1 protein results in increased expression of IL6 protein]	26070417
D019256	Cadmium Chloride	Cadmium Chloride affects the reaction [COL2A1 protein results in increased expression of PTGS2 protein]	26070417
D019256	Cadmium Chloride	Cadmium Chloride affects the reaction [COL2A1 protein results in increased expression of RELA protein]	26070417
D019256	Cadmium Chloride	Cadmium Chloride affects the reaction [COL2A1 protein results in increased expression of TNF protein]	26070417
D019256	Cadmium Chloride	Cadmium Chloride affects the reaction [COL2A1 protein results in increased secretion of ELANE protein]	26070417
D002110	Caffeine	Caffeine results in decreased expression of COL2A1 mRNA	29966748
D002110	Caffeine	Caffeine results in decreased expression of COL2A1 protein	29966748
D002220	Carbamazepine	Carbamazepine affects the expression of COL2A1 mRNA	22634333
D002246	Carbon Disulfide	Carbon Disulfide results in increased expression of COL2A1 mRNA	16797628
D002331	Carnitine	[COL2A1 protein co-treated with Freund's Adjuvant] affects the abundance of Carnitine	24709313
D002331	Carnitine	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D002331	Carnitine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D002331	Carnitine	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D048271	Chitosan	[Chitosan co-treated with Polylactic Acid-Polyglycolic Acid Copolymer] results in increased expression of COL2A1 mRNA	17607738
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D002726	Chlorogenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of COL2A1 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of COL2A1 mRNA	28472532
D019343	Citric Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid	24709313
D019343	Citric Acid	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D019343	Citric Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D019343	Citric Acid	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
C007095	cobaltiprotoporphyrin	cobaltiprotoporphyrin promotes the reaction [IL1B protein inhibits the reaction [Oxygen deficiency results in increased expression of COL2A1 protein]]	23406266
C007095	cobaltiprotoporphyrin	HMOX1 mutant form inhibits the reaction [cobaltiprotoporphyrin promotes the reaction [IL1B protein inhibits the reaction [Oxygen deficiency results in increased expression of COL2A1 protein]]]	23406266
C007095	cobaltiprotoporphyrin	cobaltiprotoporphyrin inhibits the reaction [COL2A1 protein results in increased expression of IL10 protein]	16200597
C007095	cobaltiprotoporphyrin	cobaltiprotoporphyrin inhibits the reaction [COL2A1 protein results in increased expression of IL2 protein]	16200597
C007095	cobaltiprotoporphyrin	cobaltiprotoporphyrin inhibits the reaction [COL2A1 protein results in increased expression of TNF protein]	16200597
C007095	cobaltiprotoporphyrin	cobaltiprotoporphyrin promotes the reaction [COL2A1 protein results in increased expression of VEGFA protein]	16200597
D003345	Corticosterone	Corticosterone results in decreased expression of COL2A1 mRNA	29660438; 29966748;
D003401	Creatine	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine	24709313
D003401	Creatine	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D003401	Creatine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D003401	Creatine	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D003404	Creatinine	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine	24709313
D003404	Creatinine	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D003404	Creatinine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D003404	Creatinine	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
C029036	crocin	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D003471	Cuprizone	Cuprizone affects the expression of COL2A1 mRNA	26577399
D003474	Curcumin	Curcumin results in increased expression of COL2A1 mRNA	18321735
D003474	Curcumin	Curcumin results in increased expression of COL2A1 protein	19889203
D003474	Curcumin	[Resveratrol co-treated with Curcumin] results in increased expression of COL2A1 protein	19889203
D003474	Curcumin	Curcumin inhibits the reaction [IL1B protein results in decreased expression of COL2A1 protein]	19889203
D003474	Curcumin	[Resveratrol co-treated with Curcumin] inhibits the reaction [IL1B protein results in decreased expression of COL2A1 protein]	19889203
D016572	Cyclosporine	Cyclosporine results in decreased expression of COL2A1 mRNA	20106945; 21632981; 25562108;
D003545	Cysteine	Cysteine inhibits the reaction [Thioacetamide results in increased expression of COL2A1 mRNA]	15158331
D000077209	Decitabine	Decitabine results in increased expression of COL2A1 mRNA	27915011
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] affects the abundance of Malondialdehyde]	17299831
D003907	Dexamethasone	Dexamethasone results in decreased expression of COL2A1 mRNA	25286332
D003907	Dexamethasone	Dexamethasone inhibits the reaction [BMP2 protein results in increased expression of COL2A1 mRNA]	17502159
D003907	Dexamethasone	Dexamethasone results in decreased expression of COL2A1 mRNA	27608943
D003907	Dexamethasone	Dexamethasone results in decreased expression of COL2A1 protein	27608943
D003907	Dexamethasone	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]	26526931
D003907	Dexamethasone	PTH protein modified form inhibits the reaction [Dexamethasone results in decreased expression of COL2A1 protein]	27608943
D003907	Dexamethasone	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]]	26526931
D003907	Dexamethasone	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA	26526931
D003907	Dexamethasone	Dexamethasone affects the expression of COL2A1 mRNA	21277400
D003907	Dexamethasone	Dexamethasone affects the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] affects the activity of GSR protein]	17299831
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] results in increased expression of IL1B protein]	17299831
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] results in increased expression of IL6 protein]	17299831
D003907	Dexamethasone	Dexamethasone results in decreased expression of COL2A1 mRNA	29329878
D003907	Dexamethasone	Dexamethasone results in decreased expression of COL2A1 protein	29329878
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D003907	Dexamethasone	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
C025292	diacetylrhein	diacetylrhein inhibits the reaction [IL1B protein results in decreased expression of COL2A1 mRNA]	18321735
C025292	diacetylrhein	diacetylrhein results in increased expression of COL2A1 mRNA	18321735
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of COL2A1 mRNA	26924002
C058705	diethyl malate	diethyl malate affects the expression of COL2A1 mRNA	24814887
D004125	Dimethyldithiocarbamate	Dimethyldithiocarbamate results in increased expression of COL2A1 mRNA	16797628
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of COL2A1 mRNA	26924002
D015237	Dinoprost	Dinoprost results in increased expression of COL2A1 mRNA	27050768
D015237	Dinoprost	Dinoprost results in increased expression of COL2A1 protein	27050768
D015232	Dinoprostone	Dinoprostone results in increased expression of COL2A1 mRNA	27050768
D015232	Dinoprostone	Dinoprostone results in increased expression of COL2A1 protein	27050768
D004164	Diphosphonates	Diphosphonates results in decreased expression of COL2A1 mRNA	19597852
D004221	Disulfiram	Disulfiram affects the expression of COL2A1 mRNA	20530235
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of COL2A1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL2A1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of COL2A1 mRNA	30031762
D004610	Ellagic Acid	Ellagic Acid binds to COL2A1 protein	23830812
D004610	Ellagic Acid	Ellagic Acid inhibits the reaction [MMP13 protein results in increased degradation of COL2A1 protein]	23830812
C070609	EMD 53998	EMD 53998 analog results in increased expression of COL2A1 mRNA	24977338
C118739	entinostat	entinostat results in decreased expression of COL2A1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of COL2A1 mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of COL2A1 protein	26251326
C045651	epigallocatechin gallate	epigallocatechin gallate inhibits the reaction [IL1B protein results in decreased expression of COL2A1 mRNA]	16206353
D004958	Estradiol	Estradiol results in increased expression of COL2A1 mRNA	19484750
D000431	Ethanol	Ethanol results in decreased expression of COL2A1 mRNA	27112526
D000431	Ethanol	Ethanol results in decreased expression of COL2A1 mRNA	17920746
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of COL2A1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL2A1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of COL2A1 mRNA	23550701
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of COL2A1 mRNA	23649840
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D005419	Flavonoids	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D005472	Fluorouracil	Fluorouracil results in decreased expression of COL2A1 mRNA	24737281
D005472	Fluorouracil	Fluorouracil results in decreased expression of COL2A1 protein	21296659
C061365	flusilazole	flusilazole affects the expression of COL2A1 mRNA	22634333
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of COL2A1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of COL2A1 mRNA	23649840
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] affects the abundance of Malondialdehyde]	17299831
D005620	Freund's Adjuvant	[Freund's Adjuvant co-treated with COL2A1 protein] affects the abundance of Malondialdehyde	17299831
D005620	Freund's Adjuvant	Dexamethasone affects the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] affects the activity of GSR protein]	17299831
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] results in increased expression of IL1B protein]	17299831
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] results in increased expression of IL6 protein]	17299831
D005620	Freund's Adjuvant	[Freund's Adjuvant co-treated with COL2A1 protein] affects the activity of GSR protein	17299831
D005620	Freund's Adjuvant	[Freund's Adjuvant co-treated with COL2A1 protein] results in decreased activity of GSR protein	17216602
D005620	Freund's Adjuvant	[Freund's Adjuvant co-treated with COL2A1 protein] results in increased expression of IL1B protein	17299831
D005620	Freund's Adjuvant	[Freund's Adjuvant co-treated with COL2A1 protein] results in increased expression of IL6 protein	17299831
D005620	Freund's Adjuvant	Plant Extracts inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] results in decreased activity of GSR protein]	17216602
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in decreased activity of CAT protein	27028940
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of PTGS2 protein	27028940
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of RELA protein	27028940
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of TNF protein	27028940
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] affects the abundance of Carnitine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant co-treated with hydroquinone] results in increased expression of and results in increased secretion of TNF protein	29908986
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant co-treated with hydroquinone] results in increased secretion of IL1B protein	29908986
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of 1-palmitoyl-2-lysophosphatidylcholine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Acetylcarnitine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of hippuric acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Ketoglutaric Acids	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Palmitoylcarnitine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of p-Aminohippuric Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pyridoxic Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Spermidine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Benzoic Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of indole-3-carboxylic acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of indole-3-lactic acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Kynurenic Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Taurine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of xanthurenic acid	24709313
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of FOXP3 mRNA	25481498
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL1B protein	25481498
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL6 protein	25481498
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of RORC mRNA alternative form	25481498
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of TNF protein	25481498
D005620	Freund's Adjuvant	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D005620	Freund's Adjuvant	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D005620	Freund's Adjuvant	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D005620	Freund's Adjuvant	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D005620	Freund's Adjuvant	[norisoboldine co-treated with COL2A1 protein co-treated with Freund's Adjuvant] results in decreased expression of IL17A protein	25481498
D005620	Freund's Adjuvant	[norisoboldine co-treated with COL2A1 protein co-treated with Freund's Adjuvant] results in decreased expression of TGFB1 protein	25481498
D005620	Freund's Adjuvant	[norisoboldine co-treated with COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL10 protein	25481498
D005620	Freund's Adjuvant	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL1B protein]	25481498
D005620	Freund's Adjuvant	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL6 protein]	25481498
D005620	Freund's Adjuvant	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of RORC mRNA alternative form]	25481498
D005620	Freund's Adjuvant	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of TNF protein]	25481498
D005620	Freund's Adjuvant	norisoboldine promotes the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of FOXP3 mRNA]	25481498
D005620	Freund's Adjuvant	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in decreased activity of CAT protein]	27028940
D005620	Freund's Adjuvant	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of PTGS2 protein]	27028940
D005620	Freund's Adjuvant	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of RELA protein]	27028940
D005620	Freund's Adjuvant	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of TNF protein]	27028940
C069837	fullerene C60	fullerene C60 results in decreased expression of COL2A1 mRNA	19167457
C005023	fulvic acid	[fulvic acid co-treated with Selenium deficiency] affects the metabolism of COL2A1 protein	8435081
C039281	furan	furan results in increased expression of COL2A1 mRNA	15120968
D005707	Gallic Acid	Gallic Acid results in decreased expression of COL2A1 mRNA	25130855
D005707	Gallic Acid	Gallic Acid results in decreased expression of COL2A1 mRNA	26107568
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
C007835	geniposide	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D019833	Genistein	Genistein results in increased expression of COL2A1 mRNA	12075121
D005944	Glucosamine	Glucosamine analog affects the expression of COL2A1 mRNA	17337215
D005944	Glucosamine	Glucosamine analog affects the reaction [IL1B results in decreased expression of COL2A1 mRNA]	17337215
D005944	Glucosamine	Glucosamine analog results in increased expression of COL2A1 mRNA	16300972
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B protein results in decreased expression of COL2A1 mRNA]	18321735
D005944	Glucosamine	Glucosamine results in increased expression of COL2A1 mRNA	18321735
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B results in decreased expression of COL2A1 mRNA]	17109745
C065632	glucosamine 3-O-sulfate	glucosamine 3-O-sulfate results in increased expression of COL2A1 mRNA	16300972
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of COL2A1 mRNA	22634610
D006108	Graphite	Graphite results in increased expression of COL2A1 mRNA	29933104
C030514	hippuric acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of hippuric acid	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
C045607	huang-lien-chieh-tu-tang	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D006820	Hyaluronic Acid	[Hyaluronic Acid co-treated with Resveratrol] results in increased expression of COL2A1 mRNA	23595953
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of COL2A1 mRNA	18255322
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of COL2A1 protein	18255322
C031927	hydroquinone	[COL2A1 protein co-treated with Freund's Adjuvant co-treated with hydroquinone] results in increased expression of and results in increased secretion of TNF protein	29908986
C031927	hydroquinone	[COL2A1 protein co-treated with Freund's Adjuvant co-treated with hydroquinone] results in increased secretion of IL1B protein	29908986
C031927	hydroquinone	[COL2A1 protein co-treated with hydroquinone] results in increased expression of IL6 protein	29935983
C041508	indeno(1,2,3-cd)pyrene	indeno(1,2,3-cd)pyrene results in decreased expression of COL2A1 mRNA	21635667
C012382	indole-3-carboxylic acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of indole-3-carboxylic acid	24709313
C024139	indole-3-lactic acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of indole-3-lactic acid	24709313
D007213	Indomethacin	Indomethacin results in decreased expression of COL2A1 mRNA	24737281
C005056	isoascorbic acid	isoascorbic acid results in increased expression of COL2A1 mRNA	11852233
D007545	Isoproterenol	DUSP1 protein inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D007545	Isoproterenol	DUSP1 protein inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
D007545	Isoproterenol	Isoproterenol results in decreased expression of COL2A1 mRNA	21177286
D007545	Isoproterenol	Isoproterenol results in decreased expression of COL2A1 protein	21177286
D007545	Isoproterenol	JUNB protein promotes the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D007545	Isoproterenol	MAP2K1 protein promotes the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D007545	Isoproterenol	MAP2K1 protein promotes the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
D007545	Isoproterenol	[N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide co-treated with U 0126] inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D007545	Isoproterenol	[N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide co-treated with U 0126] inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
D007545	Isoproterenol	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D007545	Isoproterenol	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
D007545	Isoproterenol	Propranolol inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D007545	Isoproterenol	Propranolol inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
D007545	Isoproterenol	U 0126 inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D007545	Isoproterenol	U 0126 inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of COL2A1 mRNA	26830473
C006552	kaempferol	kaempferol results in increased expression of COL2A1 mRNA	23989061
D007656	Ketoglutaric Acids	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Ketoglutaric Acids	24709313
D007736	Kynurenic Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Kynurenic Acid	24709313
C008261	lead acetate	BMP2 promotes the reaction [lead acetate results in increased expression of COL2A1 mRNA]	17805416
C008261	lead acetate	lead acetate results in increased expression of COL2A1 mRNA	17805416
C008261	lead acetate	lead acetate results in decreased expression of COL2A1 mRNA	11578147
D000077339	Leflunomide	[Leflunomide co-treated with COL2A1 protein] results in increased expression of FOXP3 mRNA	26640276
D000077339	Leflunomide	[Leflunomide co-treated with COL2A1 protein] results in increased expression of IL10 protein	26640276
D000077339	Leflunomide	Leflunomide inhibits the reaction [COL2A1 protein results in increased expression of IFNG protein]	26640276
D000077339	Leflunomide	Leflunomide inhibits the reaction [COL2A1 protein results in increased expression of IL17A protein]	26640276
D000077339	Leflunomide	Leflunomide inhibits the reaction [COL2A1 protein results in increased expression of IL1B protein]	26640276
D000077339	Leflunomide	Leflunomide inhibits the reaction [COL2A1 protein results in increased expression of IL6 protein]	26640276
D000077339	Leflunomide	Leflunomide inhibits the reaction [COL2A1 protein results in increased expression of RORC mRNA]	26640276
D000077339	Leflunomide	Leflunomide inhibits the reaction [COL2A1 protein results in increased expression of TNF protein]	26640276
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of COL2A1 mRNA	24972896
C557799	LY-2157299	LY-2157299 results in decreased expression of COL2A1 mRNA	29660438
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
C001670	magnoflorine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
D008315	Malondialdehyde	Dexamethasone inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] affects the abundance of Malondialdehyde]	17299831
D008315	Malondialdehyde	[Freund's Adjuvant co-treated with COL2A1 protein] affects the abundance of Malondialdehyde	17299831
D015122	Mercaptopurine	Mercaptopurine results in decreased expression of COL2A1 mRNA	23358152
D008701	Methapyrilene	Methapyrilene affects the methylation of COL2A1 exon	30157460
D008713	Methimazole	Methimazole results in increased expression of COL2A1 mRNA	22504374
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of COL2A1 gene	20938992
D008715	Methionine	Methionine inhibits the reaction [Thioacetamide results in increased expression of COL2A1 mRNA]	15158331
C008435	methyldithiocarbamate	methyldithiocarbamate affects the expression of COL2A1 mRNA	15201444
C008435	methyldithiocarbamate	methyldithiocarbamate results in increased expression of COL2A1 mRNA	16797628
C005227	methyl isothiocyanate	methyl isothiocyanate results in increased expression of COL2A1 mRNA	16797628
C015358	methylparaben	methylparaben results in decreased expression of COL2A1 mRNA	28527915
D008798	Mevalonic Acid	Mevalonic Acid inhibits the reaction [Simvastatin results in increased expression of COL2A1 mRNA]	18628692
D015735	Mifepristone	Mifepristone results in decreased expression of COL2A1 mRNA	17584828
C000621807	MM-589	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of COL2A1 mRNA	31023824
C054999	mofezolac	[mofezolac results in decreased activity of PTGS1 protein] which results in decreased expression of COL2A1 mRNA	27050768
C054999	mofezolac	[mofezolac results in decreased activity of PTGS1 protein] which results in decreased expression of COL2A1 protein	27050768
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of COL2A1 mRNA	22401849
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of COL2A1 mRNA	26924002
C093875	montelukast	montelukast results in increased expression of COL2A1 mRNA	19544365
C523799	MRK 003	MRK 003 results in decreased expression of COL2A1 mRNA	21169257
C063509	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	[N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide co-treated with U 0126] inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
C063509	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	[N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide co-treated with U 0126] inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
C063509	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
C063509	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of COL2A1 mRNA	19812364
C502362	N-butyrylglucosamine	N-butyrylglucosamine results in increased expression of COL2A1 mRNA	15240824
C028007	nickel monoxide	nickel monoxide results in increased expression of COL2A1 mRNA	19167457
D009538	Nicotine	Nicotine results in decreased expression of COL2A1 mRNA	29660438; 31299270;
D009538	Nicotine	Nicotine results in decreased expression of COL2A1 protein	29660438; 31299270;
C464745	norisoboldine	[norisoboldine co-treated with COL2A1 protein co-treated with Freund's Adjuvant] results in decreased expression of IL17A protein	25481498
C464745	norisoboldine	[norisoboldine co-treated with COL2A1 protein co-treated with Freund's Adjuvant] results in decreased expression of TGFB1 protein	25481498
C464745	norisoboldine	[norisoboldine co-treated with COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL10 protein	25481498
C464745	norisoboldine	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL1B protein]	25481498
C464745	norisoboldine	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of IL6 protein]	25481498
C464745	norisoboldine	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of RORC mRNA alternative form]	25481498
C464745	norisoboldine	norisoboldine inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of TNF protein]	25481498
C464745	norisoboldine	norisoboldine promotes the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased expression of FOXP3 mRNA]	25481498
C025589	ochratoxin A	ochratoxin A results in decreased expression of COL2A1 mRNA	12700408
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of COL2A1 mRNA	25729387
D010100	Oxygen	cobaltiprotoporphyrin promotes the reaction [IL1B protein inhibits the reaction [Oxygen deficiency results in increased expression of COL2A1 protein]]	23406266
D010100	Oxygen	HMOX1 mutant form inhibits the reaction [cobaltiprotoporphyrin promotes the reaction [IL1B protein inhibits the reaction [Oxygen deficiency results in increased expression of COL2A1 protein]]]	23406266
D010100	Oxygen	IL1B protein inhibits the reaction [Oxygen deficiency results in increased expression of COL2A1 protein]	23406266
D010100	Oxygen	Oxygen deficiency results in increased expression of COL2A1 protein	23406266
D010172	Palmitoylcarnitine	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Palmitoylcarnitine	24709313
D010130	p-Aminohippuric Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of p-Aminohippuric Acid	24709313
D010205	Pantothenic Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid	24709313
D010205	Pantothenic Acid	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D010205	Pantothenic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D010205	Pantothenic Acid	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
D010269	Paraquat	Paraquat results in decreased expression of COL2A1 mRNA	26108578
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Amino Acids]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pantothenic Acid]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Allantoin]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Amino Acids]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Carnitine]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Citric Acid]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatine]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Creatinine]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
C079418	phellodendrine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased secretion of IL1B protein]	24709313
C022050	phenylacetylglycine	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine	24709313
C022050	phenylacetylglycine	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
C022050	phenylacetylglycine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
C022050	phenylacetylglycine	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of phenylacetylglycine]	24709313
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL2A1 mRNA	27188386
C031606	phenylpyruvic acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid	24709313
C031606	phenylpyruvic acid	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C031606	phenylpyruvic acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C031606	phenylpyruvic acid	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of phenylpyruvic acid]	24709313
C006253	pirinixic acid	pirinixic acid results in increased expression of COL2A1 mRNA	20813756
D010936	Plant Extracts	Plant Extracts results in decreased expression of COL2A1 mRNA	23557933
D010936	Plant Extracts	Plant Extracts inhibits the reaction [[Freund's Adjuvant co-treated with COL2A1 protein] results in decreased activity of GSR protein]	17216602
D011084	Polycyclic Aromatic Hydrocarbons	Polycyclic Aromatic Hydrocarbons affects the expression of COL2A1 mRNA	21133357
D000077182	Polylactic Acid-Polyglycolic Acid Copolymer	[Chitosan co-treated with Polylactic Acid-Polyglycolic Acid Copolymer] results in increased expression of COL2A1 mRNA	17607738
D011374	Progesterone	Progesterone results in decreased expression of COL2A1 mRNA	23012394
D011433	Propranolol	Propranolol inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
D011433	Propranolol	Propranolol inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
D011441	Propylthiouracil	Propylthiouracil affects the expression of COL2A1 mRNA	24780913
D011441	Propylthiouracil	Propylthiouracil results in increased expression of COL2A1 mRNA	22504374
C043680	ptaquiloside	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of COL2A1 mRNA	23274088
C043680	ptaquiloside	ptaquiloside results in decreased expression of COL2A1 mRNA	23274088
C586999	PTC-209	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of COL2A1 mRNA	31023824
C115642	punicalagin	punicalagin inhibits the reaction [IL1B protein results in increased degradation of and results in increased secretion of COL2A1 protein]	23830812
C115642	punicalagin	punicalagin binds to COL2A1 protein	23830812
C115642	punicalagin	punicalagin inhibits the reaction [MMP13 protein results in increased degradation of COL2A1 protein]	23830812
C030984	pyrene	pyrene results in decreased expression of COL2A1 mRNA	22336231
D011735	Pyridoxic Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Pyridoxic Acid	24709313
C020972	pyrrolidine dithiocarbamic acid	pyrrolidine dithiocarbamic acid results in increased expression of COL2A1 mRNA	16797628
D011794	Quercetin	Quercetin results in decreased expression of COL2A1 mRNA	21632981
D000077185	Resveratrol	[Resveratrol co-treated with Curcumin] results in increased expression of COL2A1 protein	19889203
D000077185	Resveratrol	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]]	26526931
D000077185	Resveratrol	Resveratrol inhibits the reaction [IL1B protein results in decreased expression of COL2A1 protein]	17404069
D000077185	Resveratrol	Resveratrol results in increased expression of COL2A1 protein	19889203
D000077185	Resveratrol	[Hyaluronic Acid co-treated with Resveratrol] results in increased expression of COL2A1 mRNA	23595953
D000077185	Resveratrol	Resveratrol inhibits the reaction [[tetrandrine co-treated with COL2A1 protein] results in increased expression of CYP1A1 mRNA]	26640276
D000077185	Resveratrol	Resveratrol inhibits the reaction [[tetrandrine co-treated with COL2A1 protein] results in increased expression of CYP1A1 protein]	26640276
D000077185	Resveratrol	Resveratrol inhibits the reaction [[tetrandrine co-treated with COL2A1 protein] results in increased expression of IL10 protein]	26640276
D000077185	Resveratrol	Resveratrol inhibits the reaction [tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of IL17A protein]]	26640276
D000077185	Resveratrol	Resveratrol inhibits the reaction [tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of TNF protein]]	26640276
D000077185	Resveratrol	[Resveratrol co-treated with Curcumin] inhibits the reaction [IL1B protein results in decreased expression of COL2A1 protein]	19889203
D000077185	Resveratrol	Resveratrol inhibits the reaction [IL1B protein results in decreased expression of COL2A1 protein]	19889203
D012402	Rotenone	Rotenone results in decreased expression of COL2A1 mRNA	29955902
C115461	SC 560	[SC 560 results in decreased activity of PTGS1 protein] which results in decreased expression of COL2A1 mRNA	27050768
C115461	SC 560	[SC 560 results in decreased activity of PTGS1 protein] which results in decreased expression of COL2A1 protein	27050768
D012643	Selenium	[fulvic acid co-treated with Selenium deficiency] affects the metabolism of COL2A1 protein	8435081
D012645	Selenomethionine	Selenomethionine inhibits the reaction [IL1B protein results in decreased expression of COL2A1 mRNA]	16206353
D019821	Simvastatin	Mevalonic Acid inhibits the reaction [Simvastatin results in increased expression of COL2A1 mRNA]	18628692
D019821	Simvastatin	NOG inhibits the reaction [Simvastatin results in increased expression of COL2A1 mRNA]	18628692
D019821	Simvastatin	Simvastatin results in increased expression of COL2A1 mRNA	18628692; 19912653;
C439060	sirtinol	sirtinol results in decreased expression of COL2A1 protein	26251326
C017947	sodium arsenite	sodium arsenite results in increased expression of COL2A1 mRNA	28370166
D018038	Sodium Selenite	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of COL2A1 mRNA	23274088
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of COL2A1 mRNA	23274088
D013095	Spermidine	[COL2A1 protein co-treated with Freund's Adjuvant] results in decreased abundance of Spermidine	24709313
D019802	Succinic Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid	24709313
D019802	Succinic Acid	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D019802	Succinic Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D019802	Succinic Acid	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Succinic Acid]	24709313
D013420	Sulfamethoxazole	Sulfamethoxazole results in decreased expression of COL2A1 mRNA	26107568
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of COL2A1 mRNA	22800716
D013654	Taurine	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Taurine	24709313
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of COL2A1 mRNA	22020769
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of COL2A1 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	[AHR gene mutant form results in decreased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of COL2A1 mRNA	24035824
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of COL2A1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL2A1 mRNA	17942748
C009438	tetrandrine	Resveratrol inhibits the reaction [[tetrandrine co-treated with COL2A1 protein] results in increased expression of CYP1A1 mRNA]	26640276
C009438	tetrandrine	Resveratrol inhibits the reaction [[tetrandrine co-treated with COL2A1 protein] results in increased expression of CYP1A1 protein]	26640276
C009438	tetrandrine	Resveratrol inhibits the reaction [[tetrandrine co-treated with COL2A1 protein] results in increased expression of IL10 protein]	26640276
C009438	tetrandrine	Resveratrol inhibits the reaction [tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of IL17A protein]]	26640276
C009438	tetrandrine	Resveratrol inhibits the reaction [tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of TNF protein]]	26640276
C009438	tetrandrine	[tetrandrine co-treated with COL2A1 protein] results in increased expression of CYP1A1 mRNA	26640276
C009438	tetrandrine	[tetrandrine co-treated with COL2A1 protein] results in increased expression of CYP1A1 protein	26640276
C009438	tetrandrine	[tetrandrine co-treated with COL2A1 protein] results in increased expression of FOXP3 mRNA	26640276
C009438	tetrandrine	[tetrandrine co-treated with COL2A1 protein] results in increased expression of IL10 protein	26640276
C009438	tetrandrine	tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of IFNG protein]	26640276
C009438	tetrandrine	tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of IL17A protein]	26640276
C009438	tetrandrine	tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of IL1B protein]	26640276
C009438	tetrandrine	tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of IL6 protein]	26640276
C009438	tetrandrine	tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of RORC mRNA]	26640276
C009438	tetrandrine	tetrandrine inhibits the reaction [COL2A1 protein results in increased expression of TNF protein]	26640276
D013853	Thioacetamide	Cysteine inhibits the reaction [Thioacetamide results in increased expression of COL2A1 mRNA]	15158331
D013853	Thioacetamide	Methionine inhibits the reaction [Thioacetamide results in increased expression of COL2A1 mRNA]	15158331
D013853	Thioacetamide	Thioacetamide results in increased expression of COL2A1 mRNA	15158331
D013893	Thiram	Thiram affects the expression of COL2A1 mRNA	20530235
D013974	Thyroxine	Thyroxine affects the expression of COL2A1 mRNA	17403546
C032628	tin protoporphyrin IX	tin protoporphyrin IX inhibits the reaction [COL2A1 protein results in increased expression of IL1B protein]	16200597
C032628	tin protoporphyrin IX	tin protoporphyrin IX inhibits the reaction [COL2A1 protein results in increased expression of TNF protein]	16200597
C032628	tin protoporphyrin IX	tin protoporphyrin IX inhibits the reaction [COL2A1 protein results in increased expression of VEGFA protein]	16200597
C016151	tinuvin	tinuvin analog results in increased expression of COL2A1 mRNA	30315675
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of COL2A1 mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of COL2A1 mRNA	21934132
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of COL2A1 mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of COL2A1 mRNA	30951980
D014212	Tretinoin	Tretinoin results in decreased expression of COL2A1 mRNA	22498432
D014212	Tretinoin	Tretinoin results in decreased expression of COL2A1 protein	22498432
D014212	Tretinoin	Tretinoin results in decreased expression of COL2A1 mRNA	23810783
D014212	Tretinoin	Tretinoin results in decreased expression of COL2A1 protein	23810783
C011559	tributyltin	tributyltin results in decreased expression of COL2A1 mRNA	24513447
C012589	trichostatin A	trichostatin A results in increased expression of COL2A1 mRNA	24935251
C012589	trichostatin A	trichostatin A results in decreased expression of COL2A1 mRNA	15901671
D014260	Triclosan	Triclosan results in decreased expression of COL2A1 mRNA	30510588
C113580	U 0126	[N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide co-treated with U 0126] inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
C113580	U 0126	[N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide co-treated with U 0126] inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
C113580	U 0126	U 0126 inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 mRNA]	21177286
C113580	U 0126	U 0126 inhibits the reaction [Isoproterenol results in decreased expression of COL2A1 protein]	21177286
D014520	Urethane	Urethane results in decreased expression of COL2A1 mRNA	28818685
D014527	Uric Acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid	24709313
D014527	Uric Acid	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D014527	Uric Acid	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uric Acid]	24709313
D014529	Uridine	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine	24709313
D014529	Uridine	Dexamethasone inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D014529	Uridine	[geniposide co-treated with phellodendrine co-treated with magnoflorine co-treated with Chlorogenic Acid co-treated with crocin co-treated with Flavonoids co-treated with Berberine Alkaloids] inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D014529	Uridine	huang-lien-chieh-tu-tang inhibits the reaction [[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of Uridine]	24709313
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL2A1 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in decreased methylation of COL2A1 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of COL2A1 mRNA	19101580; 27188386;
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL2A1 mRNA	23042728
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL2A1 protein	26251326
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL2A1 mRNA	15901671
C025643	vinclozolin	vinclozolin results in increased expression of COL2A1 mRNA	20566332
D014801	Vitamin A	[RARA gene mutant form co-treated with Vitamin A] results in decreased expression of COL2A1 mRNA	16397886
D014801	Vitamin A	RARG gene mutant form inhibits the reaction [[RARA gene mutant form co-treated with Vitamin A] results in decreased expression of COL2A1 mRNA]	16397886
D000077337	Vorinostat	Vorinostat results in decreased expression of COL2A1 mRNA	20060208
C028330	xanthurenic acid	[COL2A1 protein co-treated with Freund's Adjuvant] results in increased abundance of xanthurenic acid	24709313
D015016	Yohimbine	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in decreased activity of CAT protein]	27028940
D015016	Yohimbine	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of PTGS2 protein]	27028940
D015016	Yohimbine	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of RELA protein]	27028940
D015016	Yohimbine	Yohimbine inhibits the reaction [[COL2A1 protein co-treated with Adjuvants, Immunologic co-treated with Freund's Adjuvant] results in increased expression of TNF protein]	27028940
C063449	zileuton	zileuton results in increased expression of COL2A1 mRNA	19544365

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0106	Calcium
KW-0898	Cataract
KW-0176	Collagen
KW-0209	Deafness
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0242	Dwarfism
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0379	Hydroxylation
KW-0479	Metal-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal
KW-0757	Stickler syndrome

Interpro

InterPro ID	InterPro Term
IPR008160	Collagen
IPR000885	Fib_collagen_C
IPR001007	VWF_dom

PROSITE

PROSITE ID	PROSITE Term
PS51461	NC1_FIB
PS01208	VWFC_1
PS50184	VWFC_2

Pfam

Pfam ID	Pfam Term
PF01410	COLFI
PF01391	Collagen
PF00093	VWC

Gene: COL2A1

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