id,variation,vep_hgvs_c,vep_hgvs_p,vep_exon,vep_intron,final_pathogenicity,final_disease,vep_consequence,vep_cadd_phred,overall_max_maf,overall_max_maf_source,gene
285929,12:48366783:A>G,NM_001844.4:c.*407T>C,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,17.7,0.0014,1KG_AMR_AF,COL2A1
285930,12:48366869:A>G,NM_001844.4:c.*321T>C,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,13.42,\N,\N,COL2A1
285931,12:48366885:C>T,NM_001844.4:c.*305G>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,19.25,0.004,1KG_EUR_AF,COL2A1
285932,12:48366895:G>A,NM_001844.4:c.*295C>T,\N,54/54,\N,Benign,\N,3_prime_UTR_variant,17.88,0.0666,1KG_AFR_AF,COL2A1
285933,12:48366905:CAG>C,NM_001844.4:c.*283_*284del,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL2A1
285934,12:48366911:G>C,NM_001844.4:c.*279C>G,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,14.46,0.001,1KG_EAS_AF,COL2A1
285935,12:48366924:A>T,NM_001844.4:c.*266T>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,16.12,0.001,1KG_EUR_AF,COL2A1
285936,12:48366955:G>A,NM_001844.4:c.*235C>T,\N,54/54,\N,Benign,\N,3_prime_UTR_variant,15.7,0.007,1KG_EUR_AF,COL2A1
285937,12:48366959:G>T,NM_001844.4:c.*231C>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,16.93,\N,\N,COL2A1
285938,12:48366993:G>A,NM_001844.4:c.*197C>T,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,12.87,\N,\N,COL2A1
285939,12:48367004:T>A,NM_001844.4:c.*186A>T,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,18.59,\N,\N,COL2A1
285940,12:48367050:G>T,NM_001844.4:c.*140C>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,15.54,0.002,1KG_EAS_AF,COL2A1
285941,12:48367054:G>A,NM_001844.4:c.*136C>T,\N,54/54,\N,Benign,\N,3_prime_UTR_variant,12.65,0.0706,1KG_EUR_AF,COL2A1
285942,12:48367092:G>T,NM_001844.4:c.*98C>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,17.18,0.003,1KG_EAS_AF,COL2A1
285943,12:48367093:T>G,NM_001844.4:c.*97A>C,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,18.5,0.001,1KG_SAS_AF,COL2A1
285944,12:48367143:G>T,NM_001844.4:c.*47C>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,17.23,0.000115554,EXAC_EAS_AF,COL2A1
285945,12:48367146:C>CCTT,NM_001844.4:c.*41_*43dup,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,19.26,\N,\N,COL2A1
285946,12:48367161:C>A,NM_001844.4:c.*29G>T,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,13.48,0.0000299679,EXAC_NFE_AF,COL2A1
285947,12:48367161:C>T,NM_001844.4:c.*29G>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,12.86,0.000231107,EXAC_EAS_AF,COL2A1
285948,12:48367162:G>A,NM_001844.4:c.*28C>T,\N,54/54,\N,Benign,\N,3_prime_UTR_variant,13.64,0.0258,1KG_EAS_AF,COL2A1
285949,12:48367165:T>G,NM_001844.4:c.*25A>C,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,14.55,0.000060562,EXAC_SAS_AF,COL2A1
285950,12:48367166:T>C,NM_001844.4:c.*24A>G,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,15.4,0.000060562,EXAC_SAS_AF,COL2A1
285951,12:48367171:T>C,NM_001844.4:c.*19A>G,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,15.82,\N,\N,COL2A1
285952,12:48367172:G>T,NM_001844.4:c.*18C>A,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,14.14,0.000116279,EVS_EA_AF,COL2A1
285953,12:48367179:G>C,NM_001844.4:c.*11C>G,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,13.75,0.000014984,EXAC_NFE_AF,COL2A1
285954,12:48367186:G>A,NM_001844.4:c.*4C>T,\N,54/54,\N,Benign,\N,3_prime_UTR_variant,15.66,0.0719,1KG_AFR_AF,COL2A1
285955,12:48367187:T>C,NM_001844.4:c.*3A>G,\N,54/54,\N,Unknown significance,\N,3_prime_UTR_variant,14.54,0.0000960984,EXAC_AFR_AF,COL2A1
285956,12:48367191:TA>T,NM_001844.4:c.4462del,NP_001835.3:p.Ter1488LysfsTer26,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,frameshift_variant&stop_lost,35,\N,\N,COL2A1
285957,12:48367193:C>CAAG,NM_001844.4:c.4458_4460dup,NP_001835.3:p.Phe1486dup,54/54,\N,Unknown significance,\N,inframe_insertion,16.25,0.0000149835,EXAC_NFE_AF,COL2A1
285958,12:48367193:CAAG>C,NM_001844.4:c.4458_4460del,NP_001835.3:p.Phe1486del,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,inframe_deletion,21.6,\N,\N,COL2A1
285959,12:48367201:A>C,NM_001844.4:c.4453T>G,NP_001835.3:p.Cys1485Gly,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,missense_variant,22.7,\N,\N,COL2A1
285960,12:48367201:AGACCGGCCCTAT>A,NM_001844.4:c.4441_4452del,NP_001835.3:p.Ile1481_Val1484del,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,inframe_deletion,19.73,\N,\N,COL2A1
285961,12:48367203:ACCGG>A,NM_001844.4:c.4447_4450del,NP_001835.3:p.Pro1483SerfsTer30,54/54,\N,Pathogenic,Platyspondylic lethal skeletal dysplasia Torrance type,frameshift_variant,\N,\N,\N,COL2A1
285962,12:48367205:C>T,NM_001844.4:c.4449G>A,NP_001835.3:p.Pro1483=,54/54,\N,Benign,\N,synonymous_variant,12.15,0.012483,EVS_AA_AF,COL2A1
285963,12:48367206:G>A,NM_001844.4:c.4448C>T,NP_001835.3:p.Pro1483Leu,54/54,\N,Unknown significance,\N,missense_variant,25,0.000226963,EVS_AA_AF,COL2A1
285964,12:48367216:C>T,NM_001844.4:c.4438G>A,NP_001835.3:p.Asp1480Asn,54/54,\N,Unknown significance,\N,missense_variant,25.5,0.000060562,EXAC_SAS_AF,COL2A1
285965,12:48367223:G>A,NM_001844.4:c.4431C>T,NP_001835.3:p.Phe1477=,54/54,\N,Unknown significance,\N,synonymous_variant,11.21,0.000060562,EXAC_SAS_AF,COL2A1
285966,12:48367231:G>A,NM_001844.4:c.4423C>T,NP_001835.3:p.Gln1475Ter,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,stop_gained,42,\N,\N,COL2A1
285967,12:48367232:C>G,NM_001844.4:c.4422G>C,NP_001835.3:p.Glu1474Asp,54/54,\N,Likely benign,\N,missense_variant,5.529,0.0000149835,EXAC_NFE_AF,COL2A1
285968,12:48367232:C>T,NM_001844.4:c.4422G>A,NP_001835.3:p.Glu1474=,54/54,\N,Unknown significance,\N,synonymous_variant,11.3,0.000480492,EXAC_AFR_AF,COL2A1
285969,12:48367234:C>G,NM_001844.4:c.4420G>C,NP_001835.3:p.Glu1474Gln,54/54,\N,Unknown significance,\N,missense_variant,24.5,0.0008,1KG_AFR_AF,COL2A1
285970,12:48367234:C>T,NM_001844.4:c.4420G>A,NP_001835.3:p.Glu1474Lys,54/54,\N,Unknown significance,\N,missense_variant,27,0.000345483,EXAC_AMR_AF,COL2A1
285971,12:48367235:G>A,NM_001844.4:c.4419C>T,NP_001835.3:p.Pro1473=,54/54,\N,Unknown significance,\N,synonymous_variant,11.36,0.000384394,EXAC_AFR_AF,COL2A1
285972,12:48367237:GCCCT>G,NM_001844.4:c.4413_4416del,NP_001835.3:p.Gly1472ProfsTer9,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,frameshift_variant,35,\N,\N,COL2A1
285973,12:48367239:C>T,NM_001844.4:c.4415G>A,NP_001835.3:p.Gly1472Glu,54/54,\N,Unknown significance,\N,missense_variant,23.4,\N,\N,COL2A1
285974,12:48367240:C>G,NM_001844.4:c.4414G>C,NP_001835.3:p.Gly1472Arg,54/54,\N,Unknown significance,\N,missense_variant,24.9,0.0000863707,EXAC_AMR_AF,COL2A1
285975,12:48367240:C>A,NM_001844.4:c.4414G>T,NP_001835.3:p.Gly1472Trp,54/54,\N,Unknown significance,\N,missense_variant,26.4,0.0000149835,EXAC_NFE_AF,COL2A1
285976,12:48367241:T>C,NM_001844.4:c.4413A>G,NP_001835.3:p.Gly1471=,54/54,\N,Unknown significance,\N,synonymous_variant,0.751,0.0000149835,EXAC_NFE_AF,COL2A1
285977,12:48367241:T>G,NM_001844.4:c.4413A>C,NP_001835.3:p.Gly1471=,54/54,\N,Unknown significance,\N,synonymous_variant,4.249,0.0000960984,EXAC_AFR_AF,COL2A1
285978,12:48367246:T>C,NM_001844.4:c.4408A>G,NP_001835.3:p.Ile1470Val,54/54,\N,Unknown significance,\N,missense_variant,13.53,0.0000960984,EXAC_AFR_AF,COL2A1
285979,12:48367247:G>A,NM_001844.4:c.4407C>T,NP_001835.3:p.Asp1469=,54/54,\N,Unknown significance,\N,synonymous_variant,7.883,0.00030281,EXAC_SAS_AF,COL2A1
285980,12:48367249:C>G,NM_001844.4:c.4405G>C,NP_001835.3:p.Asp1469His,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,missense_variant,24.2,\N,\N,COL2A1
285981,12:48367253:G>A,NM_001844.4:c.4401C>T,NP_001835.3:p.Pro1467=,54/54,\N,Unknown significance,\N,synonymous_variant,8.357,0.000060562,EXAC_SAS_AF,COL2A1
285982,12:48367255:G>A,NM_001844.4:c.4399C>T,NP_001835.3:p.Pro1467Ser,54/54,\N,Unknown significance,\N,missense_variant,24,0.0000863707,EXAC_AMR_AF,COL2A1
285983,12:48367264:CAAT>C,NM_001844.4:c.4387_4389del,NP_001835.3:p.Ile1463del,54/54,\N,Unknown significance,\N,inframe_deletion,\N,\N,\N,COL2A1
285984,12:48367266:A>G,NM_001844.4:c.4388T>C,NP_001835.3:p.Ile1463Thr,54/54,\N,Unknown significance,\N,missense_variant,19.25,0.0000149835,EXAC_NFE_AF,COL2A1
285985,12:48367266:A>ATGAT,NM_001844.4:c.4384_4387dup,NP_001835.3:p.Ile1463AsnfsTer3,54/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,frameshift_variant,\N,\N,\N,COL2A1
285986,12:48367274:G>C,NM_001844.4:c.4380C>G,NP_001835.3:p.Leu1460=,54/54,\N,Unknown significance,\N,synonymous_variant,4.939,0.000226963,EVS_AA_AF,COL2A1
285987,12:48367278:C>T,NM_001844.4:c.4376G>A,NP_001835.3:p.Arg1459His,54/54,\N,Unknown significance,\N,missense_variant,27.2,0.000192197,EXAC_AFR_AF,COL2A1
285988,12:48367279:G>A,NM_001844.4:c.4375C>T,NP_001835.3:p.Arg1459Cys,54/54,\N,Unknown significance,\N,missense_variant,26.4,0.000453926,EVS_AA_AF,COL2A1
285989,12:48367296:C>T,NM_001844.4:c.4358G>A,NP_001835.3:p.Arg1453Gln,54/54,\N,Unknown significance,\N,missense_variant,26.1,0.000060562,EXAC_SAS_AF,COL2A1
285990,12:48367296:CG>C,NM_001844.4:c.4357del,NP_001835.3:p.Arg1453GlyfsTer18,54/54,\N,Pathogenic,Spondyloperipheral dysplasia,frameshift_variant,35,\N,\N,COL2A1
285991,12:48367297:G>A,NM_001844.4:c.4357C>T,NP_001835.3:p.Arg1453Trp,54/54,\N,Unknown significance,\N,missense_variant,26.2,0.0000960984,EXAC_AFR_AF,COL2A1
285992,12:48367299:T>C,NM_001844.4:c.4355A>G,NP_001835.3:p.Tyr1452Cys,54/54,\N,Unknown significance,\N,missense_variant,23.2,0.000363372,EXAC_SAS_AF,COL2A1
285993,12:48367302:T>C,NM_001844.4:c.4352A>G,NP_001835.3:p.Glu1451Gly,54/54,\N,Unknown significance,\N,missense_variant,24,0.0000299679,EXAC_NFE_AF,COL2A1
285994,12:48367303:C>T,NM_001844.4:c.4351G>A,NP_001835.3:p.Glu1451Lys,54/54,\N,Unknown significance,\N,missense_variant,26.8,0.000014984,EXAC_NFE_AF,COL2A1
285995,12:48367304:G>A,NM_001844.4:c.4350C>T,NP_001835.3:p.Ile1450=,54/54,\N,Unknown significance,\N,synonymous_variant,12.24,0.003,1KG_AFR_AF,COL2A1
285996,12:48367305:A>G,NM_001844.4:c.4349T>C,NP_001835.3:p.Ile1450Thr,54/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,23.5,\N,\N,COL2A1
285997,12:48367305:A>T,NM_001844.4:c.4349T>A,NP_001835.3:p.Ile1450Asn,54/54,\N,Likely pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,24.2,\N,\N,COL2A1
285998,12:48367306:T>C,NM_001844.4:c.4348A>G,NP_001835.3:p.Ile1450Val,54/54,\N,Unknown significance,\N,missense_variant,14.86,0.0000863856,EXAC_AMR_AF,COL2A1
285999,12:48367310:A>G,NM_001844.4:c.4344T>C,NP_001835.3:p.Thr1448=,54/54,\N,Benign,\N,synonymous_variant,0.069,0.0103681,EXAC_AMR_AF,COL2A1
286000,12:48367312:T>G,NM_001844.4:c.4342A>C,NP_001835.3:p.Thr1448Pro,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,missense_variant,23.5,\N,\N,COL2A1
286001,12:48367315:T>A,NM_001844.4:c.4339A>T,NP_001835.3:p.Lys1447Ter,54/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,stop_gained,39,\N,\N,COL2A1
286002,12:48367316:GC>G,NM_001844.4:c.4337del,NP_001835.3:p.Gly1446AlafsTer25,54/54,\N,Pathogenic,Spondyloperipheral dysplasia,frameshift_variant,35,\N,\N,COL2A1
286003,12:48367319:C>T,NM_001844.4:c.4335G>A,NP_001835.3:p.Trp1445Ter,54/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,stop_gained,50,\N,\N,COL2A1
286004,12:48367321:AC>A,NM_001844.4:c.4332del,NP_001835.3:p.Lys1444AsnfsTer27,54/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,frameshift_variant,35,\N,\N,COL2A1
286005,12:48367327:C>T,NM_001844.4:c.4327G>A,NP_001835.3:p.Gly1443Ser,54/54,\N,Benign,\N,missense_variant,26.2,0.0136,1KG_AFR_AF,COL2A1
286006,12:48367328:G>A,NM_001844.4:c.4326C>T,NP_001835.3:p.Thr1442=,54/54,\N,Unknown significance,\N,synonymous_variant,12.13,0.000423934,EXAC_SAS_AF,COL2A1
286007,12:48367329:G>A,NM_001844.4:c.4325C>T,NP_001835.3:p.Thr1442Ile,54/54,\N,Unknown significance,\N,missense_variant,24.2,0.000060562,EXAC_SAS_AF,COL2A1
286008,12:48367331:A>G,NM_001844.4:c.4323T>C,NP_001835.3:p.His1441=,54/54,\N,Unknown significance,\N,synonymous_variant,2.368,0.0000149853,EXAC_NFE_AF,COL2A1
286009,12:48367334:T>C,NM_001844.4:c.4320A>G,NP_001835.3:p.Lys1440=,54/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,7.684,0.0000299715,EXAC_NFE_AF,COL2A1
286010,12:48367349:A>C,NM_001844.4:c.4318-13T>G,\N,\N,53/53,Unknown significance,\N,intron_variant,0.576,0.0000605694,EXAC_SAS_AF,COL2A1
286011,12:48367350:AAGG>A,NM_001844.4:c.4318-17_4318-15del,\N,\N,53/53,Unknown significance,\N,intron_variant,1.423,0.000014993,EXAC_NFE_AF,COL2A1
286012,12:48367350:AAGGAGGAGGCTCTGTTC>A,NM_001844.4:c.4318-31_4318-15del,\N,\N,53/53,Unknown significance,\N,intron_variant,1.184,0.0000961723,EXAC_AFR_AF,COL2A1
286013,12:48367352:G>A,NM_001844.4:c.4318-16C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,5.875,0.0000605694,EXAC_SAS_AF,COL2A1
286014,12:48367353:G>A,NM_001844.4:c.4318-17C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,5.269,0.0008,1KG_AFR_AF,COL2A1
286015,12:48367357:A>C,NM_001844.4:c.4318-21T>G,\N,\N,53/53,Unknown significance,\N,intron_variant,3.429,0.0000149961,EXAC_NFE_AF,COL2A1
286016,12:48367368:A>G,NM_001844.4:c.4318-32T>C,\N,\N,53/53,Unknown significance,\N,intron_variant,5.476,0.0008,1KG_AFR_AF,COL2A1
286017,12:48367371:A>G,NM_001844.4:c.4318-35T>C,\N,\N,53/53,Unknown significance,\N,intron_variant,6.109,0.0015,1KG_AFR_AF,COL2A1
286018,12:48367373:A>G,NM_001844.4:c.4318-37T>C,\N,\N,53/53,Unknown significance,\N,intron_variant,4.644,0.0000606061,EXAC_SAS_AF,COL2A1
286019,12:48367375:G>T,NM_001844.4:c.4318-39C>A,\N,\N,53/53,Unknown significance,\N,intron_variant,1.742,0.000116279,EVS_EA_AF,COL2A1
286020,12:48367381:C>T,NM_001844.4:c.4318-45G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,5.358,0.000116279,EVS_EA_AF,COL2A1
286021,12:48367395:C>T,NM_001844.4:c.4318-59G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,6.972,\N,\N,COL2A1
286022,12:48367427:G>A,NM_001844.4:c.4318-91C>T,\N,\N,53/53,Benign,\N,intron_variant,0.662,0.1891,1KG_AFR_AF,COL2A1
286023,12:48367428:A>G,NM_001844.4:c.4318-92T>C,\N,\N,53/53,Unknown significance,\N,intron_variant,0.837,\N,\N,COL2A1
286024,12:48367435:G>C,NM_001844.4:c.4318-99C>G,\N,\N,53/53,Unknown significance,\N,intron_variant,0.169,0.0029,1KG_AMR_AF,COL2A1
286025,12:48367465:G>C,NM_001844.4:c.4318-129C>G,\N,\N,53/53,Unknown significance,\N,intron_variant,2.164,0.0015,1KG_AFR_AF,COL2A1
286026,12:48367465:GC>G,NM_001844.4:c.4318-130del,\N,\N,53/53,Benign,\N,intron_variant,3.26,0.0706,1KG_EUR_AF,COL2A1
286027,12:48367473:G>A,NM_001844.4:c.4318-137C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,5.022,\N,\N,COL2A1
286028,12:48367524:C>T,NM_001844.4:c.4318-188G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,2.595,0.0008,1KG_AFR_AF,COL2A1
286029,12:48367555:C>T,NM_001844.4:c.4318-219G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,0.548,0.001,1KG_SAS_AF,COL2A1
286030,12:48367557:C>G,NM_001844.4:c.4318-221G>C,\N,\N,53/53,Benign,\N,intron_variant,3.227,0.0144,1KG_AFR_AF,COL2A1
286031,12:48367594:C>T,NM_001844.4:c.4318-258G>A,\N,\N,53/53,Benign,\N,intron_variant,5.349,0.0092,1KG_SAS_AF,COL2A1
286032,12:48367595:C>T,NM_001844.4:c.4318-259G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,0.282,0.0023,1KG_AFR_AF,COL2A1
286033,12:48367596:G>A,NM_001844.4:c.4318-260C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,0.024,\N,\N,COL2A1
286034,12:48367611:A>G,NM_001844.4:c.4317+261T>C,\N,\N,53/53,Unknown significance,\N,intron_variant,3.226,\N,\N,COL2A1
286035,12:48367618:G>A,NM_001844.4:c.4317+254C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,1.744,0.001,1KG_EAS_AF,COL2A1
286036,12:48367620:G>A,NM_001844.4:c.4317+252C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,0.167,\N,\N,COL2A1
286037,12:48367633:C>T,NM_001844.4:c.4317+239G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,0.243,0.001,1KG_EUR_AF,COL2A1
286038,12:48367651:A>T,NM_001844.4:c.4317+221T>A,\N,\N,53/53,Unknown significance,\N,intron_variant,0.301,0.002,1KG_SAS_AF,COL2A1
286039,12:48367653:G>A,NM_001844.4:c.4317+219C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,4.579,\N,\N,COL2A1
286040,12:48367729:C>A,NM_001844.4:c.4317+143G>T,\N,\N,53/53,Unknown significance,\N,intron_variant,5.065,0.0031,1KG_SAS_AF,COL2A1
286041,12:48367730:C>T,NM_001844.4:c.4317+142G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,1.318,\N,\N,COL2A1
286042,12:48367732:A>G,NM_001844.4:c.4317+140T>C,\N,\N,53/53,Unknown significance,\N,intron_variant,3.441,0.0038,1KG_AFR_AF,COL2A1
286043,12:48367745:G>T,NM_001844.4:c.4317+127C>A,\N,\N,53/53,Unknown significance,\N,intron_variant,1.013,0.002,1KG_SAS_AF,COL2A1
286044,12:48367762:C>T,NM_001844.4:c.4317+110G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,4.234,0.0015,1KG_AFR_AF,COL2A1
286045,12:48367764:C>T,NM_001844.4:c.4317+108G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,5.026,0.001,1KG_SAS_AF,COL2A1
286046,12:48367793:A>T,NM_001844.4:c.4317+79T>A,\N,\N,53/53,Unknown significance,\N,intron_variant,4.874,\N,\N,COL2A1
286047,12:48367802:G>A,NM_001844.4:c.4317+70C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,1.645,\N,\N,COL2A1
286048,12:48367804:G>A,NM_001844.4:c.4317+68C>T,\N,\N,53/53,Unknown significance,\N,intron_variant,6.428,\N,\N,COL2A1
286049,12:48367809:C>A,NM_001844.4:c.4317+63G>T,\N,\N,53/53,Unknown significance,\N,intron_variant,6.61,\N,\N,COL2A1
286050,12:48367822:T>A,NM_001844.4:c.4317+50A>T,\N,\N,53/53,Unknown significance,\N,intron_variant,8.306,0.000291319,EXAC_AFR_AF,COL2A1
286051,12:48367827:G>C,NM_001844.4:c.4317+45C>G,\N,\N,53/53,Unknown significance,\N,intron_variant,0.561,0.000116279,EVS_EA_AF,COL2A1
286052,12:48367828:C>A,NM_001844.4:c.4317+44G>T,\N,\N,53/53,Unknown significance,\N,intron_variant,3.312,0.00011558,EXAC_EAS_AF,COL2A1
286053,12:48367828:C>T,NM_001844.4:c.4317+44G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,3.262,0.002,1KG_SAS_AF,COL2A1
286054,12:48367829:G>A,NM_001844.4:c.4317+43C>T,\N,\N,53/53,Benign,\N,intron_variant,1.793,0.304337,EXAC_SAS_AF,COL2A1
286055,12:48367837:C>G,NM_001844.4:c.4317+35G>C,\N,\N,53/53,Unknown significance,\N,intron_variant,2.01,0.00174182,EXAC_AFR_AF,COL2A1
286056,12:48367848:C>G,NM_001844.4:c.4317+24G>C,\N,\N,53/53,Benign,\N,intron_variant,5.551,0.0053,1KG_AFR_AF,COL2A1
286057,12:48367851:C>T,NM_001844.4:c.4317+21G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,8.917,0.000345602,EXAC_AMR_AF,COL2A1
286058,12:48367855:C>T,NM_001844.4:c.4317+17G>A,\N,\N,53/53,Unknown significance,\N,intron_variant,7.278,0.0000150137,EXAC_NFE_AF,COL2A1
286059,12:48367864:C>T,NM_001844.4:c.4317+8G>A,\N,\N,53/53,Unknown significance,\N,splice_region_variant&intron_variant,9.93,0.000385877,EXAC_AFR_AF,COL2A1
286060,12:48367869:C>T,NM_001844.4:c.4317+3G>A,\N,\N,53/53,Unknown significance,\N,splice_region_variant&intron_variant,17.16,0.0000299967,EXAC_NFE_AF,COL2A1
286061,12:48367870:A>G,NM_001844.4:c.4317+2T>C,\N,\N,53/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.4,\N,\N,COL2A1
286062,12:48367873:G>A,NM_001844.4:c.4316C>T,NP_001835.3:p.Thr1439Met,53/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant&splice_region_variant,25.1,0.000259157,EXAC_AMR_AF,COL2A1
286063,12:48367873:G>T,NM_001844.4:c.4316C>A,NP_001835.3:p.Thr1439Lys,53/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.8,0.0000149939,EXAC_NFE_AF,COL2A1
286064,12:48367875:G>T,NM_001844.4:c.4314C>A,NP_001835.3:p.Cys1438Ter,53/54,\N,Pathogenic,Spondyloperipheral dysplasia,stop_gained,51,\N,\N,COL2A1
286065,12:48367877:AG>A,NM_001844.4:c.4311del,NP_001835.3:p.Cys1438AlafsTer33,53/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,frameshift_variant,35,\N,\N,COL2A1
286066,12:48367883:C>T,NM_001844.4:c.4306G>A,NP_001835.3:p.Asp1436Asn,53/54,\N,Unknown significance,\N,missense_variant,27,\N,\N,COL2A1
286067,12:48367897:T>TACGTG,NM_001844.4:c.4287_4291dup,NP_001835.3:p.Tyr1431SerfsTer6,53/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,frameshift_variant,35,\N,\N,COL2A1
286068,12:48367899:C>T,NM_001844.4:c.4290G>A,NP_001835.3:p.Thr1430=,53/54,\N,Unknown significance,\N,synonymous_variant,16.79,0.000060562,EXAC_SAS_AF,COL2A1
286069,12:48367900:G>A,NM_001844.4:c.4289C>T,NP_001835.3:p.Thr1430Met,53/54,\N,Unknown significance,\N,missense_variant,25.7,0.000907853,EVS_AA_AF,COL2A1
286070,12:48367909:C>T,NM_001844.4:c.4280G>A,NP_001835.3:p.Ser1427Asn,53/54,\N,Unknown significance,\N,missense_variant,22.9,0.0000149849,EXAC_NFE_AF,COL2A1
286071,12:48367914:G>A,NM_001844.4:c.4275C>T,NP_001835.3:p.Gly1425=,53/54,\N,Unknown significance,\N,synonymous_variant,10.73,0.00068089,EVS_AA_AF,COL2A1
286072,12:48367924:C>A,NM_001844.4:c.4265G>T,NP_001835.3:p.Arg1422Leu,53/54,\N,Unknown significance,\N,missense_variant,25.6,\N,\N,COL2A1
286073,12:48367924:C>T,NM_001844.4:c.4265G>A,NP_001835.3:p.Arg1422Gln,53/54,\N,Unknown significance,\N,missense_variant,29.4,0.0000449546,EXAC_NFE_AF,COL2A1
286074,12:48367925:G>A,NM_001844.4:c.4264C>T,NP_001835.3:p.Arg1422Trp,53/54,\N,Unknown significance,\N,missense_variant,26.8,0.000172741,EXAC_AMR_AF,COL2A1
286075,12:48367934:C>T,NM_001844.4:c.4255G>A,NP_001835.3:p.Val1419Met,53/54,\N,Unknown significance,\N,missense_variant,26.2,0.000192197,EXAC_AFR_AF,COL2A1
286076,12:48367935:G>A,NM_001844.4:c.4254C>T,NP_001835.3:p.Asp1418=,53/54,\N,Unknown significance,\N,synonymous_variant,13.25,0.000121124,EXAC_SAS_AF,COL2A1
286077,12:48367939:T>C,NM_001844.4:c.4250A>G,NP_001835.3:p.Asn1417Ser,53/54,\N,Unknown significance,\N,missense_variant,23.4,0.001,1KG_SAS_AF,COL2A1
286078,12:48367942:G>A,NM_001844.4:c.4247C>T,NP_001835.3:p.Ser1416Phe,53/54,\N,Unknown significance,\N,missense_variant,23.3,0.001,1KG_SAS_AF,COL2A1
286079,12:48367958:G>A,NM_001844.4:c.4231C>T,NP_001835.3:p.Leu1411=,53/54,\N,Unknown significance,\N,synonymous_variant,8.896,0.000116279,EVS_EA_AF,COL2A1
286080,12:48367968:G>C,NM_001844.4:c.4221C>G,NP_001835.3:p.Leu1407=,53/54,\N,Unknown significance,\N,synonymous_variant,7.01,0.0000960984,EXAC_AFR_AF,COL2A1
286081,12:48367976:C>T,NM_001844.4:c.4213G>A,NP_001835.3:p.Gly1405Ser,53/54,\N,Benign,\N,missense_variant,26.1,0.4286,1KG_EAS_AF,COL2A1
286082,12:48367985:C>T,NM_001844.4:c.4204G>A,NP_001835.3:p.Glu1402Lys,53/54,\N,Unknown significance,\N,missense_variant,24.2,0.000014984,EXAC_NFE_AF,COL2A1
286083,12:48367986:G>A,NM_001844.4:c.4203C>T,NP_001835.3:p.Asp1401=,53/54,\N,Unknown significance,\N,synonymous_variant,10.49,0.000115554,EXAC_EAS_AF,COL2A1
286084,12:48367993:T>C,NM_001844.4:c.4196A>G,NP_001835.3:p.Tyr1399Cys,53/54,\N,Pathogenic,Deafness,missense_variant,23.8,\N,\N,COL2A1
286085,12:48367996:G>A,NM_001844.4:c.4193C>T,NP_001835.3:p.Ala1398Val,53/54,\N,Unknown significance,\N,missense_variant,26,0.000151194,EXAC_FIN_AF,COL2A1
286086,12:48368009:T>C,NM_001844.4:c.4180A>G,NP_001835.3:p.Lys1394Glu,53/54,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,COL2A1
286087,12:48368017:T>C,NM_001844.4:c.4172A>G,NP_001835.3:p.Tyr1391Cys,53/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,missense_variant,23.8,\N,\N,COL2A1
286088,12:48368020:G>T,NM_001844.4:c.4169C>A,NP_001835.3:p.Thr1390Asn,53/54,\N,Pathogenic,Achondrogenesis II-hypochondrogenesis,missense_variant,24.3,\N,\N,COL2A1
286089,12:48368025:G>A,NM_001844.4:c.4164C>T,NP_001835.3:p.Asn1388=,53/54,\N,Unknown significance,\N,synonymous_variant,9.208,0.0000149844,EXAC_NFE_AF,COL2A1
286090,12:48368035:C>G,NM_001844.4:c.4154G>C,NP_001835.3:p.Gly1385Ala,53/54,\N,Unknown significance,\N,missense_variant,13.79,0.000060562,EXAC_SAS_AF,COL2A1
286091,12:48368040:C>T,NM_001844.4:c.4149G>A,NP_001835.3:p.Thr1383=,53/54,\N,Unknown significance,\N,synonymous_variant,18.47,0.000115554,EXAC_EAS_AF,COL2A1
286092,12:48368041:G>A,NM_001844.4:c.4148C>T,NP_001835.3:p.Thr1383Met,53/54,\N,Pathogenic,Avascular necrosis of the femur head,missense_variant,25.3,0.000344662,EXAC_NFE_AF,COL2A1
286093,12:48368043:G>C,NM_001844.4:c.4146C>G,NP_001835.3:p.Ser1382=,53/54,\N,Unknown significance,\N,synonymous_variant,9.54,0.000060562,EXAC_SAS_AF,COL2A1
286094,12:48368048:G>A,NM_001844.4:c.4141C>T,NP_001835.3:p.Leu1381=,53/54,\N,Unknown significance,\N,synonymous_variant,10.97,0.000226963,EVS_AA_AF,COL2A1
286095,12:48368053:C>T,NM_001844.4:c.4136G>A,NP_001835.3:p.Arg1379His,53/54,\N,Unknown significance,\N,missense_variant,28.9,0.000259426,EXAC_AMR_AF,COL2A1
286096,12:48368054:G>A,NM_001844.4:c.4135C>T,NP_001835.3:p.Arg1379Cys,53/54,\N,Unknown significance,\N,missense_variant,28,0.000181686,EXAC_SAS_AF,COL2A1
286097,12:48368054:G>T,NM_001844.4:c.4135C>A,NP_001835.3:p.Arg1379Ser,53/54,\N,Unknown significance,\N,missense_variant,26.2,0.000116279,EVS_EA_AF,COL2A1
286098,12:48368054:G>GT,NM_001844.4:c.4134dup,NP_001835.3:p.Arg1379ThrfsTer40,53/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,frameshift_variant,\N,\N,\N,COL2A1
286099,12:48368058:G>A,NM_001844.4:c.4131C>T,NP_001835.3:p.Phe1377=,53/54,\N,Unknown significance,\N,synonymous_variant,12,\N,\N,COL2A1
286100,12:48368058:G>C,NM_001844.4:c.4131C>G,NP_001835.3:p.Phe1377Leu,53/54,\N,Unknown significance,\N,missense_variant,23.5,0.0000605694,EXAC_SAS_AF,COL2A1
286101,12:48368072:C>T,NM_001844.4:c.4117G>A,NP_001835.3:p.Val1373Ile,53/54,\N,Unknown significance,\N,missense_variant,13.99,0.0000961354,EXAC_AFR_AF,COL2A1
286102,12:48368073:G>A,NM_001844.4:c.4116C>T,NP_001835.3:p.Asn1372=,53/54,\N,Unknown significance,\N,synonymous_variant,13.21,0.000839731,EXAC_NFE_AF,COL2A1
286103,12:48368074:T>C,NM_001844.4:c.4115A>G,NP_001835.3:p.Asn1372Ser,53/54,\N,Likely benign,\N,missense_variant,6.593,0.0000961354,EXAC_AFR_AF,COL2A1
286104,12:48368080:G>A,NM_001844.4:c.4109C>T,NP_001835.3:p.Thr1370Ile,53/54,\N,Unknown significance,\N,missense_variant,22.8,0.0000605914,EXAC_SAS_AF,COL2A1
286105,12:48368085:G>A,NM_001844.4:c.4104C>T,NP_001835.3:p.Pro1368=,53/54,\N,Benign,\N,synonymous_variant,11.2,0.0119,1KG_EUR_AF,COL2A1
286106,12:48368086:G>A,NM_001844.4:c.4103C>T,NP_001835.3:p.Pro1368Leu,53/54,\N,Unknown significance,\N,missense_variant,25.1,0.000116279,EVS_EA_AF,COL2A1
286107,12:48368087:G>A,NM_001844.4:c.4102C>T,NP_001835.3:p.Pro1368Ser,53/54,\N,Unknown significance,\N,missense_variant,20.9,0.0000962279,EXAC_AFR_AF,COL2A1
286108,12:48368090:C>G,NM_001844.4:c.4099G>C,NP_001835.3:p.Ala1367Pro,53/54,\N,Likely benign,\N,missense_variant,19.14,0.0000150002,EXAC_NFE_AF,COL2A1
286109,12:48368094:A>G,NM_001844.4:c.4095T>C,NP_001835.3:p.Asn1365=,53/54,\N,Unknown significance,\N,synonymous_variant,0.577,0.000232558,EVS_EA_AF,COL2A1
286110,12:48368095:T>A,NM_001844.4:c.4094A>T,NP_001835.3:p.Asn1365Ile,53/54,\N,Unknown significance,\N,missense_variant,23.3,0.0000865651,EXAC_AMR_AF,COL2A1
286111,12:48368096:T>A,NM_001844.4:c.4093A>T,NP_001835.3:p.Asn1365Tyr,53/54,\N,Unknown significance,\N,missense_variant,24.4,0.001,1KG_EUR_AF,COL2A1
286112,12:48368097:G>T,NM_001844.4:c.4092C>A,NP_001835.3:p.Asp1364Glu,53/54,\N,Unknown significance,\N,missense_variant,17.74,0.0000300021,EXAC_NFE_AF,COL2A1
286113,12:48368099:C>T,NM_001844.4:c.4090G>A,NP_001835.3:p.Asp1364Asn,53/54,\N,Unknown significance,\N,missense_variant,23.7,0.000226963,EVS_AA_AF,COL2A1
286114,12:48368100:A>G,NM_001844.4:c.4089T>C,NP_001835.3:p.Asp1363=,53/54,\N,Unknown significance,\N,synonymous_variant,7.871,0.0000150024,EXAC_NFE_AF,COL2A1
286115,12:48368101:T>C,NM_001844.4:c.4088A>G,NP_001835.3:p.Asp1363Gly,53/54,\N,Unknown significance,\N,missense_variant,23.2,0.0000150038,EXAC_NFE_AF,COL2A1
286116,12:48368103:T>G,NM_001844.4:c.4086A>C,NP_001835.3:p.Gly1362=,53/54,\N,Unknown significance,\N,synonymous_variant,5.905,0.0000606502,EXAC_SAS_AF,COL2A1
286117,12:48368117:G>A,NM_001844.4:c.4075-3C>T,\N,\N,52/53,Unknown significance,\N,splice_region_variant&intron_variant,16.71,0.0000964692,EXAC_AFR_AF,COL2A1
286118,12:48368126:G>A,NM_001844.4:c.4075-12C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,2.787,0.000346921,EXAC_AMR_AF,COL2A1
286119,12:48368127:A>G,NM_001844.4:c.4075-13T>C,\N,\N,52/53,Unknown significance,\N,intron_variant,2.644,0.0000150258,EXAC_NFE_AF,COL2A1
286120,12:48368128:G>C,NM_001844.4:c.4075-14C>G,\N,\N,52/53,Benign,\N,intron_variant,0.118,0.0900217,EXAC_FIN_AF,COL2A1
286121,12:48368129:A>G,NM_001844.4:c.4075-15T>C,\N,\N,52/53,Unknown significance,\N,intron_variant,1.69,0.000260371,EXAC_AMR_AF,COL2A1
286122,12:48368130:G>A,NM_001844.4:c.4075-16C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,1.885,0.0000300752,EXAC_NFE_AF,COL2A1
286123,12:48368131:C>T,NM_001844.4:c.4075-17G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,1.36,0.000195553,EXAC_NFE_AF,COL2A1
286124,12:48368132:G>A,NM_001844.4:c.4075-18C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,0.451,0.001,1KG_EAS_AF,COL2A1
286125,12:48368132:G>C,NM_001844.4:c.4075-18C>G,\N,\N,52/53,Unknown significance,\N,intron_variant,0.07,0.0000868206,EXAC_AMR_AF,COL2A1
286126,12:48368134:C>T,NM_001844.4:c.4075-20G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,0.581,0.000015043,EXAC_NFE_AF,COL2A1
286127,12:48368142:G>A,NM_001844.4:c.4075-28C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,14.26,0.000116279,EVS_EA_AF,COL2A1
286128,12:48368147:G>A,NM_001844.4:c.4075-33C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,11.72,\N,\N,COL2A1
286129,12:48368152:C>A,NM_001844.4:c.4075-38G>T,\N,\N,52/53,Unknown significance,\N,intron_variant,11.42,0.0000614855,EXAC_SAS_AF,COL2A1
286130,12:48368153:T>A,NM_001844.4:c.4075-39A>T,\N,\N,52/53,Unknown significance,\N,intron_variant,10.04,0.0000150789,EXAC_NFE_AF,COL2A1
286131,12:48368154:G>A,NM_001844.4:c.4075-40C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,9.071,0.0000301541,EXAC_NFE_AF,COL2A1
286132,12:48368169:C>A,NM_001844.4:c.4075-55G>T,\N,\N,52/53,Unknown significance,\N,intron_variant,4.8,\N,\N,COL2A1
286133,12:48368171:G>T,NM_001844.4:c.4075-57C>A,\N,\N,52/53,Benign,\N,intron_variant,1.495,0.0151,1KG_AFR_AF,COL2A1
286134,12:48368256:C>T,NM_001844.4:c.4075-142G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,6.621,0.001,1KG_EUR_AF,COL2A1
286135,12:48368262:G>A,NM_001844.4:c.4075-148C>T,\N,\N,52/53,Benign,\N,intron_variant,3.819,0.025,1KG_AFR_AF,COL2A1
286136,12:48368265:G>C,NM_001844.4:c.4075-151C>G,\N,\N,52/53,Unknown significance,\N,intron_variant,3.495,0.0015,1KG_AFR_AF,COL2A1
286137,12:48368294:C>A,NM_001844.4:c.4074+164G>T,\N,\N,52/53,Benign,\N,intron_variant,5.965,0.0061,1KG_AFR_AF,COL2A1
286138,12:48368296:C>T,NM_001844.4:c.4074+162G>A,\N,\N,52/53,Benign,\N,intron_variant,6.039,0.0706,1KG_EUR_AF,COL2A1
286139,12:48368314:C>A,NM_001844.4:c.4074+144G>T,\N,\N,52/53,Unknown significance,\N,intron_variant,9.904,0.003,1KG_EAS_AF,COL2A1
286140,12:48368342:C>T,NM_001844.4:c.4074+116G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,10.16,0.001,1KG_EAS_AF,COL2A1
286141,12:48368362:A>G,NM_001844.4:c.4074+96T>C,\N,\N,52/53,Unknown significance,\N,intron_variant,4.816,0.0014,1KG_AMR_AF,COL2A1
286142,12:48368377:G>A,NM_001844.4:c.4074+81C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,7.011,\N,\N,COL2A1
286143,12:48368393:G>C,NM_001844.4:c.4074+65C>G,\N,\N,52/53,Unknown significance,\N,intron_variant,0.614,0.0014,1KG_AMR_AF,COL2A1
286144,12:48368396:A>G,NM_001844.4:c.4074+62T>C,\N,\N,52/53,Unknown significance,\N,intron_variant,3.454,\N,\N,COL2A1
286145,12:48368406:AAG>A,NM_001844.4:c.4074+50_4074+51del,\N,\N,52/53,Benign,\N,intron_variant,1.675,0.0706,1KG_EUR_AF,COL2A1
286146,12:48368408:G>C,NM_001844.4:c.4074+50C>G,\N,\N,52/53,Unknown significance,\N,intron_variant,1.026,0.000547246,EXAC_FIN_AF,COL2A1
286147,12:48368416:G>A,NM_001844.4:c.4074+42C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,4.534,0.000226963,EVS_AA_AF,COL2A1
286148,12:48368420:C>T,NM_001844.4:c.4074+38G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,4.134,\N,\N,COL2A1
286149,12:48368431:C>T,NM_001844.4:c.4074+27G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,6.538,0.000226963,EVS_AA_AF,COL2A1
286150,12:48368432:A>T,NM_001844.4:c.4074+26T>A,\N,\N,52/53,Unknown significance,\N,intron_variant,2.977,0.0000961169,EXAC_AFR_AF,COL2A1
286151,12:48368434:C>A,NM_001844.4:c.4074+24G>T,\N,\N,52/53,Unknown significance,\N,intron_variant,5.711,0.0000149835,EXAC_NFE_AF,COL2A1
286152,12:48368438:T>C,NM_001844.4:c.4074+20A>G,\N,\N,52/53,Unknown significance,\N,intron_variant,0.72,0.0000149835,EXAC_NFE_AF,COL2A1
286153,12:48368440:G>A,NM_001844.4:c.4074+18C>T,\N,\N,52/53,Unknown significance,\N,intron_variant,1.89,0.001,1KG_EAS_AF,COL2A1
286154,12:48368443:C>T,NM_001844.4:c.4074+15G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,6.818,\N,\N,COL2A1
286155,12:48368446:C>A,NM_001844.4:c.4074+12G>T,\N,\N,52/53,Unknown significance,\N,intron_variant,8.127,0.003,1KG_AFR_AF,COL2A1
286156,12:48368447:C>T,NM_001844.4:c.4074+11G>A,\N,\N,52/53,Unknown significance,\N,intron_variant,10.28,\N,\N,COL2A1
286157,12:48368452:A>G,NM_001844.4:c.4074+6T>C,\N,\N,52/53,Unknown significance,\N,splice_region_variant&intron_variant,13.26,0.000029967,EXAC_NFE_AF,COL2A1
286158,12:48368457:C>A,NM_001844.4:c.4074+1G>T,\N,\N,52/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.7,\N,\N,COL2A1
286159,12:48368458:A>G,NM_001844.4:c.4074T>C,NP_001835.3:p.His1358=,52/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,0.48,0.000060562,EXAC_SAS_AF,COL2A1
286160,12:48368459:T>C,NM_001844.4:c.4073A>G,NP_001835.3:p.His1358Arg,52/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,16.65,0.000172741,EXAC_AMR_AF,COL2A1
286161,12:48368464:G>A,NM_001844.4:c.4068C>T,NP_001835.3:p.Gly1356=,52/54,\N,Benign,\N,synonymous_variant,11.65,0.1558,1KG_AFR_AF,COL2A1
286162,12:48368467:A>G,NM_001844.4:c.4065T>C,NP_001835.3:p.Gly1355=,52/54,\N,Unknown significance,\N,synonymous_variant,11.92,0.0000149835,EXAC_NFE_AF,COL2A1
286163,12:48368468:C>T,NM_001844.4:c.4064G>A,NP_001835.3:p.Gly1355Asp,52/54,\N,Unknown significance,\N,missense_variant,23.3,0.000134852,EXAC_NFE_AF,COL2A1
286164,12:48368471:T>A,NM_001844.4:c.4061A>T,NP_001835.3:p.Asn1354Ile,52/54,\N,Unknown significance,\N,missense_variant,24.2,0.000232558,EVS_EA_AF,COL2A1
286165,12:48368471:T>C,NM_001844.4:c.4061A>G,NP_001835.3:p.Asn1354Ser,52/54,\N,Unknown significance,\N,missense_variant,16.52,0.0008,1KG_AFR_AF,COL2A1
286166,12:48368476:G>A,NM_001844.4:c.4056C>T,NP_001835.3:p.Thr1352=,52/54,\N,Unknown significance,\N,synonymous_variant,12.23,0.0000149835,EXAC_NFE_AF,COL2A1
286167,12:48368491:G>T,NM_001844.4:c.4041C>A,NP_001835.3:p.Ile1347=,52/54,\N,Unknown significance,\N,synonymous_variant,12.93,0.0014,1KG_AMR_AF,COL2A1
286168,12:48368498:T>G,NM_001844.4:c.4034A>C,NP_001835.3:p.Lys1345Thr,52/54,\N,Unknown significance,\N,missense_variant,24.6,0.0000149835,EXAC_NFE_AF,COL2A1
286169,12:48368509:G>A,NM_001844.4:c.4023C>T,NP_001835.3:p.Ser1341=,52/54,\N,Unknown significance,\N,synonymous_variant,11.58,0.0000149835,EXAC_NFE_AF,COL2A1
286170,12:48368512:C>G,NM_001844.4:c.4020G>C,NP_001835.3:p.Lys1340Asn,52/54,\N,Unknown significance,\N,missense_variant,24,0.0000149835,EXAC_NFE_AF,COL2A1
286171,12:48368513:T>C,NM_001844.4:c.4019A>G,NP_001835.3:p.Lys1340Arg,52/54,\N,Unknown significance,\N,missense_variant,22.5,0.001,1KG_EUR_AF,COL2A1
286172,12:48368530:C>T,NM_001844.4:c.4002G>A,NP_001835.3:p.Lys1334=,52/54,\N,Unknown significance,\N,synonymous_variant,13.7,0.000060562,EXAC_SAS_AF,COL2A1
286173,12:48368539:A>G,NM_001844.4:c.3993T>C,NP_001835.3:p.Val1331=,52/54,\N,Unknown significance,\N,synonymous_variant,1.139,0.0008,1KG_AFR_AF,COL2A1
286174,12:48368541:C>T,NM_001844.4:c.3991G>A,NP_001835.3:p.Val1331Ile,52/54,\N,Benign,\N,missense_variant,8.137,0.0879952,EXAC_FIN_AF,COL2A1
286175,12:48368542:G>A,NM_001844.4:c.3990C>T,NP_001835.3:p.Asn1330=,52/54,\N,Unknown significance,\N,synonymous_variant,3.288,0.000453926,EVS_AA_AF,COL2A1
286176,12:48368553:TG>T,NM_001844.4:c.3978del,NP_001835.3:p.Asn1327IlefsTer49,52/54,\N,Pathogenic,Arthroophthalmopathy,frameshift_variant,35,\N,\N,COL2A1
286177,12:48368555:G>T,NM_001844.4:c.3977C>A,NP_001835.3:p.Pro1326His,52/54,\N,Unknown significance,\N,missense_variant,24,0.0000149835,EXAC_NFE_AF,COL2A1
286178,12:48368558:T>C,NM_001844.4:c.3974A>G,NP_001835.3:p.Tyr1325Cys,52/54,\N,Unknown significance,\N,missense_variant,20.2,0.0000149835,EXAC_NFE_AF,COL2A1
286179,12:48368562:C>T,NM_001844.4:c.3970G>A,NP_001835.3:p.Val1324Ile,52/54,\N,Unknown significance,\N,missense_variant,21.9,0.0000299679,EXAC_NFE_AF,COL2A1
286180,12:48368563:G>A,NM_001844.4:c.3969C>T,NP_001835.3:p.Cys1323=,52/54,\N,Unknown significance,\N,synonymous_variant,13.68,0.001,1KG_SAS_AF,COL2A1
286181,12:48368567:G>A,NM_001844.4:c.3965C>T,NP_001835.3:p.Thr1322Ile,52/54,\N,Likely pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,24.7,\N,\N,COL2A1
286182,12:48368567:G>T,NM_001844.4:c.3965C>A,NP_001835.3:p.Thr1322Asn,52/54,\N,Likely pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,23.9,\N,\N,COL2A1
286183,12:48368571:C>T,NM_001844.4:c.3961G>A,NP_001835.3:p.Glu1321Lys,52/54,\N,Unknown significance,\N,missense_variant,25.7,0.000014984,EXAC_NFE_AF,COL2A1
286184,12:48368572:G>A,NM_001844.4:c.3960C>T,NP_001835.3:p.Gly1320=,52/54,\N,Unknown significance,\N,synonymous_variant,12.44,0.000060562,EXAC_SAS_AF,COL2A1
286185,12:48368574:CA>C,NM_001844.4:c.3957del,NP_001835.3:p.Gly1320AlafsTer56,52/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,27,\N,\N,COL2A1
286186,12:48368580:C>T,NM_001844.4:c.3952G>A,NP_001835.3:p.Glu1318Lys,52/54,\N,Unknown significance,\N,missense_variant,27.5,0.000968992,EXAC_SAS_AF,COL2A1
286187,12:48368582:ATGT>A,NM_001844.4:c.3947_3949del,NP_001835.3:p.Asn1316del,52/54,\N,Unknown significance,\N,inframe_deletion,22.5,0.0000605694,EXAC_SAS_AF,COL2A1
286188,12:48368582:A>G,NM_001844.4:c.3950T>C,NP_001835.3:p.Met1317Thr,52/54,\N,Unknown significance,\N,missense_variant,23.8,0.000115554,EXAC_EAS_AF,COL2A1
286189,12:48368589:A>C,NM_001844.4:c.3943T>G,NP_001835.3:p.Cys1315Gly,52/54,\N,Unknown significance,Platyspondylic lethal skeletal dysplasia Torrance type,missense_variant,23.5,\N,\N,COL2A1
286190,12:48368596:C>A,NM_001844.4:c.3936G>T,NP_001835.3:p.Lys1312Asn,52/54,\N,Unknown significance,\N,missense_variant,24.9,0.0000149885,EXAC_NFE_AF,COL2A1
286191,12:48368598:T>A,NM_001844.4:c.3934A>T,NP_001835.3:p.Lys1312Ter,52/54,\N,Unknown significance,\N,stop_gained,43,0.000226963,EVS_AA_AF,COL2A1
286192,12:48368601:T>A,NM_001844.4:c.3931A>T,NP_001835.3:p.Met1311Leu,52/54,\N,Unknown significance,\N,missense_variant,24.5,0.0000149907,EXAC_NFE_AF,COL2A1
286193,12:48368601:T>C,NM_001844.4:c.3931A>G,NP_001835.3:p.Met1311Val,52/54,\N,Unknown significance,\N,missense_variant,18.58,0.0008,1KG_AFR_AF,COL2A1
286194,12:48368602:G>A,NM_001844.4:c.3930C>T,NP_001835.3:p.Ala1310=,52/54,\N,Unknown significance,\N,synonymous_variant,13.52,0.000121286,EXAC_SAS_AF,COL2A1
286195,12:48368604:C>T,NM_001844.4:c.3928G>A,NP_001835.3:p.Ala1310Thr,52/54,\N,Unknown significance,\N,missense_variant,28.4,0.0000863707,EXAC_AMR_AF,COL2A1
286196,12:48368605:G>A,NM_001844.4:c.3927C>T,NP_001835.3:p.Asp1309=,52/54,\N,Unknown significance,\N,synonymous_variant,11.71,0.000151194,EXAC_FIN_AF,COL2A1
286197,12:48368610:A>G,NM_001844.4:c.3922T>C,NP_001835.3:p.Leu1308=,52/54,\N,Unknown significance,\N,synonymous_variant,7.655,\N,\N,COL2A1
286198,12:48368612:G>A,NM_001844.4:c.3920C>T,NP_001835.3:p.Thr1307Ile,52/54,\N,Unknown significance,\N,missense_variant,23,0.000115554,EXAC_EAS_AF,COL2A1
286199,12:48368618:C>T,NM_001844.4:c.3914G>A,NP_001835.3:p.Gly1305Asp,52/54,\N,Pathogenic,Vitreoretinopathy with phalangeal epiphyseal dysplasia,missense_variant,25.7,\N,\N,COL2A1
286200,12:48368623:G>A,NM_001844.4:c.3909C>T,NP_001835.3:p.Asn1303=,52/54,\N,Unknown significance,\N,synonymous_variant,10.83,0.0000150047,EXAC_NFE_AF,COL2A1
286201,12:48368625:TG>T,NM_001844.4:c.3906del,NP_001835.3:p.Asn1303ThrfsTer9,52/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286202,12:48368633:A>ATCCAGTAG,NM_001844.4:c.3891_3898dup,NP_001835.3:p.Ile1300ThrfsTer15,52/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286203,12:48368634:T>C,NM_001844.4:c.3898A>G,NP_001835.3:p.Ile1300Val,52/54,\N,Unknown significance,\N,missense_variant,17.62,0.0008,1KG_AFR_AF,COL2A1
286204,12:48368640:A>T,NM_001844.4:c.3892T>A,NP_001835.3:p.Tyr1298Asn,52/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,24.5,\N,\N,COL2A1
286205,12:48368643:C>T,NM_001844.4:c.3889G>A,NP_001835.3:p.Asp1297Asn,52/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.6,0.0000150689,EXAC_NFE_AF,COL2A1
286206,12:48368647:T>C,NM_001844.4:c.3887-2A>G,\N,\N,51/53,Pathogenic,Spondyloperipheral dysplasia,splice_acceptor_variant,24.7,\N,\N,COL2A1
286207,12:48368650:AG>A,NM_001844.4:c.3887-6del,\N,\N,51/53,Benign,\N,splice_region_variant&intron_variant,6.185,0.0118569,EXAC_SAS_AF,COL2A1
286208,12:48368654:G>A,NM_001844.4:c.3887-9C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,7.662,0.000196232,EXAC_SAS_AF,COL2A1
286209,12:48368655:G>A,NM_001844.4:c.3887-10C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,7.223,0.0000865501,EXAC_AMR_AF,COL2A1
286210,12:48368656:A>G,NM_001844.4:c.3887-11T>C,\N,\N,51/53,Unknown significance,\N,intron_variant,5.451,0.000115714,EXAC_EAS_AF,COL2A1
286211,12:48368662:C>G,NM_001844.4:c.3887-17G>C,\N,\N,51/53,Unknown significance,\N,intron_variant,1.531,0.000015157,EXAC_NFE_AF,COL2A1
286212,12:48368667:C>T,NM_001844.4:c.3887-22G>A,\N,\N,51/53,Unknown significance,\N,intron_variant,4.171,0.0000680087,EXAC_SAS_AF,COL2A1
286213,12:48368671:T>G,NM_001844.4:c.3887-26A>C,\N,\N,51/53,Unknown significance,\N,intron_variant,1.868,0.0000151888,EXAC_NFE_AF,COL2A1
286214,12:48368674:GGGCTCAGACA>G,NM_001844.4:c.3887-39_3887-30del,\N,\N,51/53,Unknown significance,\N,intron_variant,13.27,\N,\N,COL2A1
286215,12:48368687:C>G,NM_001844.4:c.3887-42G>C,\N,\N,51/53,Unknown significance,\N,intron_variant,10.9,0.0000867303,EXAC_AMR_AF,COL2A1
286216,12:48368689:C>T,NM_001844.4:c.3887-44G>A,\N,\N,51/53,Unknown significance,\N,intron_variant,10.9,0.00488372,EVS_EA_AF,COL2A1
286217,12:48368693:C>T,NM_001844.4:c.3887-48G>A,\N,\N,51/53,Unknown significance,\N,intron_variant,8.988,0.000137931,EXAC_NFE_AF,COL2A1
286218,12:48368694:A>G,NM_001844.4:c.3887-49T>C,\N,\N,51/53,Unknown significance,\N,intron_variant,5.718,0.0000764526,EXAC_SAS_AF,COL2A1
286219,12:48368755:A>T,NM_001844.4:c.3887-110T>A,\N,\N,51/53,Unknown significance,\N,intron_variant,1.973,0.001,1KG_EAS_AF,COL2A1
286220,12:48368760:G>A,NM_001844.4:c.3887-115C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,5.652,\N,\N,COL2A1
286221,12:48368768:G>T,NM_001844.4:c.3887-123C>A,\N,\N,51/53,Unknown significance,\N,intron_variant,4.204,\N,\N,COL2A1
286222,12:48368828:G>A,NM_001844.4:c.3887-183C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,4.502,\N,\N,COL2A1
286223,12:48368848:A>G,NM_001844.4:c.3887-203T>C,\N,\N,51/53,Unknown significance,\N,intron_variant,4.911,\N,\N,COL2A1
286224,12:48368857:G>A,NM_001844.4:c.3887-212C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,4.042,\N,\N,COL2A1
286225,12:48368880:G>T,NM_001844.4:c.3886+220C>A,\N,\N,51/53,Benign,\N,intron_variant,2.142,0.0091,1KG_AFR_AF,COL2A1
286226,12:48368887:G>A,NM_001844.4:c.3886+213C>T,\N,\N,51/53,Benign,\N,intron_variant,3.629,0.0719,1KG_AFR_AF,COL2A1
286227,12:48368893:C>T,NM_001844.4:c.3886+207G>A,\N,\N,51/53,Benign,\N,intron_variant,2.687,0.4286,1KG_EAS_AF,COL2A1
286228,12:48368919:G>GC,NM_001844.4:c.3886+180dup,\N,\N,51/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286229,12:48368981:T>C,NM_001844.4:c.3886+119A>G,\N,\N,51/53,Unknown significance,\N,intron_variant,7.329,\N,\N,COL2A1
286230,12:48368989:A>C,NM_001844.4:c.3886+111T>G,\N,\N,51/53,Benign,\N,intron_variant,1.819,0.3095,1KG_EAS_AF,COL2A1
286231,12:48368995:A>G,NM_001844.4:c.3886+105T>C,\N,\N,51/53,Benign,\N,intron_variant,6.396,0.0076,1KG_AFR_AF,COL2A1
286232,12:48369025:T>G,NM_001844.4:c.3886+75A>C,\N,\N,51/53,Benign,\N,intron_variant,8.891,0.0706,1KG_EUR_AF,COL2A1
286233,12:48369044:GC>G,NM_001844.4:c.3886+55del,\N,\N,51/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286234,12:48369046:C>T,NM_001844.4:c.3886+54G>A,\N,\N,51/53,Unknown significance,\N,intron_variant,3.777,0.0014,1KG_AMR_AF,COL2A1
286235,12:48369058:T>C,NM_001844.4:c.3886+42A>G,\N,\N,51/53,Unknown significance,\N,intron_variant,10.98,0.000248447,EXAC_SAS_AF,COL2A1
286236,12:48369058:T>G,NM_001844.4:c.3886+42A>C,\N,\N,51/53,Unknown significance,\N,intron_variant,12.01,0.0000155792,EXAC_NFE_AF,COL2A1
286237,12:48369067:C>T,NM_001844.4:c.3886+33G>A,\N,\N,51/53,Unknown significance,\N,intron_variant,7.612,0.0000155202,EXAC_NFE_AF,COL2A1
286238,12:48369070:G>A,NM_001844.4:c.3886+30C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,0.3,0.000119161,EXAC_EAS_AF,COL2A1
286239,12:48369071:G>A,NM_001844.4:c.3886+29C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,3.947,0.000106428,EXAC_AFR_AF,COL2A1
286240,12:48369073:G>A,NM_001844.4:c.3886+27C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,6.235,0.0000154345,EXAC_NFE_AF,COL2A1
286241,12:48369077:G>A,NM_001844.4:c.3886+23C>T,\N,\N,51/53,Unknown significance,\N,intron_variant,12.16,0.0014,1KG_AMR_AF,COL2A1
286242,12:48369083:C>G,NM_001844.4:c.3886+17G>C,\N,\N,51/53,Unknown significance,\N,intron_variant,12.09,0.0000152751,EXAC_NFE_AF,COL2A1
286243,12:48369098:A>G,NM_001844.4:c.3886+2T>C,\N,\N,51/53,Pathogenic,Stickler syndrome,splice_donor_variant,24.2,\N,\N,COL2A1
286244,12:48369099:C>A,NM_001844.4:c.3886+1G>T,\N,\N,51/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.2,\N,\N,COL2A1
286245,12:48369099:C>T,NM_001844.4:c.3886+1G>A,\N,\N,51/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.3,\N,\N,COL2A1
286246,12:48369100:C>G,NM_001844.4:c.3886G>C,NP_001835.3:p.Gly1296Arg,51/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.3,0.001,1KG_SAS_AF,COL2A1
286247,12:48369108:C>T,NM_001844.4:c.3878G>A,NP_001835.3:p.Trp1293Ter,51/54,\N,Pathogenic,Stickler syndrome,stop_gained,45,\N,\N,COL2A1
286248,12:48369115:G>A,NM_001844.4:c.3871C>T,NP_001835.3:p.Pro1291Ser,51/54,\N,Unknown significance,\N,missense_variant,22.6,0.0000150417,EXAC_NFE_AF,COL2A1
286249,12:48369116:G>A,NM_001844.4:c.3870C>T,NP_001835.3:p.His1290=,51/54,\N,Unknown significance,\N,synonymous_variant,2.379,0.00175131,EXAC_AFR_AF,COL2A1
286250,12:48369120:CAG>C,NM_001844.4:c.3864_3865del,NP_001835.3:p.Cys1289ProfsTer3,51/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286251,12:48369135:C>T,NM_001844.4:c.3851G>A,NP_001835.3:p.Arg1284Lys,51/54,\N,Unknown significance,\N,missense_variant,23.2,0.0000300192,EXAC_NFE_AF,COL2A1
286252,12:48369143:G>A,NM_001844.4:c.3843C>T,NP_001835.3:p.Arg1281=,51/54,\N,Unknown significance,\N,synonymous_variant,10.9,0.000192567,EXAC_AFR_AF,COL2A1
286253,12:48369144:C>T,NM_001844.4:c.3842G>A,NP_001835.3:p.Arg1281His,51/54,\N,Unknown significance,\N,missense_variant,28.1,0.000115687,EXAC_EAS_AF,COL2A1
286254,12:48369145:G>A,NM_001844.4:c.3841C>T,NP_001835.3:p.Arg1281Cys,51/54,\N,Unknown significance,\N,missense_variant,27.3,0.000060584,EXAC_SAS_AF,COL2A1
286255,12:48369152:G>A,NM_001844.4:c.3834C>T,NP_001835.3:p.Asn1278=,51/54,\N,Unknown significance,\N,synonymous_variant,8.668,\N,\N,COL2A1
286256,12:48369159:C>A,NM_001844.4:c.3827G>T,NP_001835.3:p.Arg1276Leu,51/54,\N,Unknown significance,\N,missense_variant,26.8,0.0000149997,EXAC_NFE_AF,COL2A1
286257,12:48369159:C>T,NM_001844.4:c.3827G>A,NP_001835.3:p.Arg1276His,51/54,\N,Unknown significance,\N,missense_variant,26.7,0.000577812,EXAC_AFR_AF,COL2A1
286258,12:48369160:G>A,NM_001844.4:c.3826C>T,NP_001835.3:p.Arg1276Cys,51/54,\N,Pathogenic,Spondylarthopathy with brachydactyly,missense_variant,27.2,0.000121139,EXAC_SAS_AF,COL2A1
286259,12:48369160:G>C,NM_001844.4:c.3826C>G,NP_001835.3:p.Arg1276Gly,51/54,\N,Unknown significance,\N,missense_variant,25.3,0.000226963,EVS_AA_AF,COL2A1
286260,12:48369166:C>G,NM_001844.4:c.3820G>C,NP_001835.3:p.Gly1274Arg,51/54,\N,Unknown significance,\N,missense_variant,25.8,0.001,1KG_EUR_AF,COL2A1
286261,12:48369169:C>T,NM_001844.4:c.3817G>A,NP_001835.3:p.Glu1273Lys,51/54,\N,Unknown significance,\N,missense_variant,28.2,0.0000864753,EXAC_AMR_AF,COL2A1
286262,12:48369170:G>A,NM_001844.4:c.3816C>T,NP_001835.3:p.Pro1272=,51/54,\N,Unknown significance,\N,synonymous_variant,13.61,0.000226963,EVS_AA_AF,COL2A1
286263,12:48369177:C>T,NM_001844.4:c.3809G>A,NP_001835.3:p.Arg1270His,51/54,\N,Unknown significance,\N,missense_variant,24.9,0.000014997,EXAC_NFE_AF,COL2A1
286264,12:48369184:T>C,NM_001844.4:c.3802A>G,NP_001835.3:p.Ser1268Gly,51/54,\N,Unknown significance,\N,missense_variant,17.61,0.000226963,EVS_AA_AF,COL2A1
286265,12:48369184:T>G,NM_033150.2:c.3595A>C,NP_149162.2:p.Ser1199Arg,50/53,\N,Unknown significance,\N,missense_variant,21.8,0.0000149948,EXAC_NFE_AF,COL2A1
286266,12:48369191:CTGGT>C,NM_001844.4:c.3791_3794del,NP_001835.3:p.Asn1264ArgfsTer22,51/54,\N,Pathogenic,Stickler syndrome type 1,frameshift_variant,\N,\N,\N,COL2A1
286267,12:48369191:C>A,NM_001844.4:c.3795G>T,NP_001835.3:p.Gln1265His,51/54,\N,Unknown significance,\N,missense_variant,23.7,0.00110132,EXAC_OTH_AF,COL2A1
286268,12:48369200:G>C,NM_001844.4:c.3786C>G,NP_001835.3:p.Leu1262=,51/54,\N,Unknown significance,\N,synonymous_variant,9.064,0.00162791,EVS_EA_AF,COL2A1
286269,12:48369204:G>A,NM_001844.4:c.3782C>T,NP_001835.3:p.Ser1261Phe,51/54,\N,Unknown significance,\N,missense_variant,24.9,0.000116279,EVS_EA_AF,COL2A1
286270,12:48369206:C>T,NM_001844.4:c.3780G>A,NP_001835.3:p.Lys1260=,51/54,\N,Unknown significance,\N,synonymous_variant,16.78,0.0000149966,EXAC_NFE_AF,COL2A1
286271,12:48369212:T>G,NM_001844.4:c.3774A>C,NP_001835.3:p.Thr1258=,51/54,\N,Unknown significance,\N,synonymous_variant,7.328,0.0000863856,EXAC_AMR_AF,COL2A1
286272,12:48369225:T>A,NM_001844.4:c.3761A>T,NP_001835.3:p.Glu1254Val,51/54,\N,Unknown significance,\N,missense_variant,25.2,0.000116279,EVS_EA_AF,COL2A1
286273,12:48369226:C>G,NM_001844.4:c.3760G>C,NP_001835.3:p.Glu1254Gln,51/54,\N,Unknown significance,\N,missense_variant,23.3,0.0000150006,EXAC_NFE_AF,COL2A1
286274,12:48369226:C>T,NM_001844.4:c.3760G>A,NP_001835.3:p.Glu1254Lys,51/54,\N,Unknown significance,\N,missense_variant,24.8,0.000226963,EVS_AA_AF,COL2A1
286275,12:48369227:G>A,NM_001844.4:c.3759C>T,NP_001835.3:p.Ala1253=,51/54,\N,Unknown significance,\N,synonymous_variant,14.03,0.000121124,EXAC_SAS_AF,COL2A1
286276,12:48369229:C>T,NM_001844.4:c.3757G>A,NP_001835.3:p.Ala1253Thr,51/54,\N,Likely benign,\N,missense_variant,22.9,0.001,1KG_EAS_AF,COL2A1
286277,12:48369230:G>A,NM_001844.4:c.3756C>T,NP_001835.3:p.Asp1252=,51/54,\N,Unknown significance,\N,synonymous_variant,6.014,0.000288795,EXAC_AFR_AF,COL2A1
286278,12:48369242:C>G,NM_001844.4:c.3744G>C,NP_001835.3:p.Leu1248=,51/54,\N,Unknown significance,\N,synonymous_variant,5.693,0.0000150087,EXAC_NFE_AF,COL2A1
286279,12:48369250:C>T,NM_001844.4:c.3736G>A,NP_001835.3:p.Gly1246Ser,51/54,\N,Likely benign,\N,missense_variant,6.571,0.001,1KG_EUR_AF,COL2A1
286280,12:48369251:G>A,NM_001844.4:c.3735C>T,NP_001835.3:p.Ala1245=,51/54,\N,Unknown significance,\N,synonymous_variant,9.395,0.0000150182,EXAC_NFE_AF,COL2A1
286281,12:48369254:T>C,NM_001844.4:c.3732A>G,NP_001835.3:p.Ala1244=,51/54,\N,Unknown significance,\N,synonymous_variant,0.494,0.0000963763,EXAC_AFR_AF,COL2A1
286282,12:48369263:G>A,NM_001844.4:c.3723C>T,NP_001835.3:p.Ala1241=,51/54,\N,Unknown significance,\N,synonymous_variant,9.732,0.0023,1KG_AFR_AF,COL2A1
286283,12:48369264:G>A,NM_001844.4:c.3722C>T,NP_001835.3:p.Ala1241Val,51/54,\N,Unknown significance,\N,missense_variant,21.8,0.0000150412,EXAC_NFE_AF,COL2A1
286284,12:48369267:C>T,NM_033150.2:c.3512G>A,NP_149162.2:p.Arg1171Gln,50/53,\N,Unknown significance,\N,missense_variant,25.1,0.000386847,EXAC_AFR_AF,COL2A1
286285,12:48369268:G>A,NM_001844.4:c.3718C>T,NP_001835.3:p.Arg1240Trp,51/54,\N,Unknown significance,\N,missense_variant,25.7,0.000116279,EVS_EA_AF,COL2A1
286286,12:48369271:T>C,NM_001844.4:c.3715A>G,NP_001835.3:p.Met1239Val,51/54,\N,Unknown significance,\N,missense_variant,14.81,0.00029036,EXAC_AFR_AF,COL2A1
286287,12:48369271:T>G,NM_001844.4:c.3715A>C,NP_001835.3:p.Met1239Leu,51/54,\N,Unknown significance,\N,missense_variant,21.2,0.0000150534,EXAC_NFE_AF,COL2A1
286288,12:48369272:G>T,NM_001844.4:c.3714C>A,NP_001835.3:p.Tyr1238Ter,51/54,\N,Pathogenic,Stickler syndrome,stop_gained,43,\N,\N,COL2A1
286289,12:48369273:T>G,NM_001844.4:c.3713A>C,NP_001835.3:p.Tyr1238Ser,51/54,\N,Unknown significance,\N,missense_variant,21.3,0.0000451807,EXAC_NFE_AF,COL2A1
286290,12:48369277:G>A,NM_001844.4:c.3709C>T,NP_001835.3:p.Gln1237Ter,51/54,\N,Pathogenic,Stickler syndrome,stop_gained,40,\N,\N,COL2A1
286291,12:48369279:A>G,NM_001844.4:c.3707T>C,NP_001835.3:p.Leu1236Pro,51/54,\N,Unknown significance,\N,missense_variant,22.7,0.000226963,EVS_AA_AF,COL2A1
286292,12:48369280:G>A,NM_001844.4:c.3706C>T,NP_001835.3:p.Leu1236=,51/54,\N,Unknown significance,\N,synonymous_variant,9.737,0.0000867152,EXAC_AMR_AF,COL2A1
286293,12:48369287:G>A,NM_001844.4:c.3699C>T,NP_001835.3:p.Pro1233=,51/54,\N,Unknown significance,\N,synonymous_variant,10.52,0.000907853,EVS_AA_AF,COL2A1
286294,12:48369287:G>C,NM_001844.4:c.3699C>G,NP_001835.3:p.Pro1233=,51/54,\N,Unknown significance,\N,synonymous_variant,7.55,0.000015103,EXAC_NFE_AF,COL2A1
286295,12:48369300:C>G,NM_001844.4:c.3686G>C,NP_001835.3:p.Arg1229Thr,51/54,\N,Likely benign,\N,missense_variant,18.25,\N,\N,COL2A1
286296,12:48369302:C>T,NM_001844.4:c.3684G>A,NP_001835.3:p.Pro1228=,51/54,\N,Unknown significance,\N,synonymous_variant,16.96,0.000060687,EXAC_SAS_AF,COL2A1
286297,12:48369303:G>A,NM_001844.4:c.3683C>T,NP_001835.3:p.Pro1228Leu,51/54,\N,Likely benign,\N,missense_variant,15.62,0.000232558,EVS_EA_AF,COL2A1
286298,12:48369303:G>C,NM_001844.4:c.3683C>G,NP_001835.3:p.Pro1228Arg,51/54,\N,Likely benign,\N,missense_variant,9.496,0.000116387,EXAC_EAS_AF,COL2A1
286299,12:48369311:G>A,NM_001844.4:c.3675C>T,NP_001835.3:p.Gly1225=,51/54,\N,Unknown significance,\N,synonymous_variant,12.69,0.0000870928,EXAC_AMR_AF,COL2A1
286300,12:48369323:G>A,NM_001844.4:c.3663C>T,NP_001835.3:p.Ser1221=,51/54,\N,Benign,\N,synonymous_variant,13.76,0.005,1KG_EAS_AF,COL2A1
286301,12:48369326:C>T,NM_001844.4:c.3660G>A,NP_001835.3:p.Met1220Ile,51/54,\N,Unknown significance,\N,missense_variant,22.5,0.0000608865,EXAC_SAS_AF,COL2A1
286302,12:48369329:G>A,NM_001844.4:c.3657C>T,NP_001835.3:p.Asp1219=,51/54,\N,Unknown significance,\N,synonymous_variant,10.57,0.000103284,EXAC_AFR_AF,COL2A1
286303,12:48369330:T>C,NM_001844.4:c.3656A>G,NP_001835.3:p.Asp1219Gly,51/54,\N,Unknown significance,\N,missense_variant,22.6,0.0000308366,EXAC_NFE_AF,COL2A1
286304,12:48369331:C>T,NM_001844.4:c.3655G>A,NP_001835.3:p.Asp1219Asn,51/54,\N,Unknown significance,\N,missense_variant,24.6,0.0000154397,EXAC_NFE_AF,COL2A1
286305,12:48369332:G>A,NM_001844.4:c.3654C>T,NP_001835.3:p.Ile1218=,51/54,\N,Unknown significance,\N,synonymous_variant,15.26,\N,\N,COL2A1
286306,12:48369334:T>C,NM_001844.4:c.3652A>G,NP_001835.3:p.Ile1218Val,51/54,\N,Unknown significance,\N,missense_variant,16.66,0.000116306,EVS_EA_AF,COL2A1
286307,12:48369341:GCCAGGGGGACCTGGAGGA>G,NM_001844.4:c.3627_3644del,NP_001835.3:p.Pro1211_Pro1216del,51/54,\N,Pathogenic,Kniest dysplasia,inframe_deletion,22.1,\N,\N,COL2A1
286308,12:48369342:C>G,NM_001844.4:c.3644G>C,NP_001835.3:p.Gly1215Ala,51/54,\N,Unknown significance,\N,missense_variant,22.9,0.0000155982,EXAC_NFE_AF,COL2A1
286309,12:48369344:A>AG,NM_001844.4:c.3641dup,NP_001835.3:p.Gly1215TrpfsTer38,51/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286310,12:48369347:G>A,NM_001844.4:c.3639C>T,NP_001835.3:p.Pro1213=,51/54,\N,Unknown significance,\N,synonymous_variant,11.07,0.000454133,EVS_AA_AF,COL2A1
286311,12:48369361:CA>C,NM_001844.4:c.3624del,NP_001835.3:p.Gly1209ValfsTer18,51/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,34,\N,\N,COL2A1
286312,12:48369362:AG>A,NM_001844.4:c.3623del,NP_001835.3:p.Pro1208LeufsTer19,51/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286313,12:48369365:G>A,NM_001844.4:c.3621C>T,NP_001835.3:p.Pro1207=,51/54,\N,Unknown significance,\N,synonymous_variant,11.12,0.0000616979,EXAC_SAS_AF,COL2A1
286314,12:48369367:G>T,NM_001844.4:c.3619C>A,NP_001835.3:p.Pro1207Thr,51/54,\N,Unknown significance,\N,missense_variant,22.9,0.0000160643,EXAC_NFE_AF,COL2A1
286315,12:48369368:T>C,NM_001844.4:c.3618A>G,NP_001835.3:p.Gly1206=,51/54,\N,Unknown significance,\N,synonymous_variant,5.922,\N,\N,COL2A1
286316,12:48369388:C>A,NM_001844.4:c.3598G>T,NP_001835.3:p.Gly1200Cys,51/54,\N,Pathogenic,Hypochondrogenesis,missense_variant&splice_region_variant,27.3,\N,\N,COL2A1
286317,12:48369388:C>T,NM_001844.4:c.3598G>A,NP_001835.3:p.Gly1200Ser,51/54,\N,Pathogenic,Hypochondrogenesis,missense_variant&splice_region_variant,26.3,\N,\N,COL2A1
286318,12:48369394:G>C,NM_001844.4:c.3598-6C>G,\N,\N,50/53,Unknown significance,\N,splice_region_variant&intron_variant,12.69,\N,\N,COL2A1
286319,12:48369396:A>G,NM_001844.4:c.3598-8T>C,\N,\N,50/53,Unknown significance,\N,splice_region_variant&intron_variant,15.88,0.0000645245,EXAC_SAS_AF,COL2A1
286320,12:48369402:C>T,NM_001844.4:c.3598-14G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,15.78,0.000560538,EXAC_FIN_AF,COL2A1
286321,12:48369402:CAGAG>C,NM_001844.4:c.3598-18_3598-15del,\N,\N,50/53,Unknown significance,\N,intron_variant,18.11,0.000101874,EXAC_AMR_AF,COL2A1
286322,12:48369403:A>AATC,NM_001844.4:c.3598-16_3598-15insGAT,\N,\N,50/53,Unknown significance,\N,intron_variant,12.09,0.0000527742,EXAC_NFE_AF,COL2A1
286323,12:48369407:A>C,NM_001844.4:c.3598-19T>G,\N,\N,50/53,Benign,\N,intron_variant,12.55,0.0168643,EXAC_AFR_AF,COL2A1
286324,12:48369408:G>A,NM_001844.4:c.3598-20C>T,\N,\N,50/53,Unknown significance,\N,intron_variant,13.7,0.000017891,EXAC_NFE_AF,COL2A1
286325,12:48369422:G>A,NM_001844.4:c.3598-34C>T,\N,\N,50/53,Unknown significance,\N,intron_variant,4.324,\N,\N,COL2A1
286326,12:48369437:T>A,NM_001844.4:c.3598-49A>T,\N,\N,50/53,Unknown significance,\N,intron_variant,5.078,0.0000718081,EXAC_SAS_AF,COL2A1
286327,12:48369437:TC>T,NM_001844.4:c.3598-50del,\N,\N,50/53,Unknown significance,\N,intron_variant,2.673,0.0000211416,EXAC_NFE_AF,COL2A1
286328,12:48369450:C>T,NM_001844.4:c.3598-62G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,11.97,0.0015,1KG_AFR_AF,COL2A1
286329,12:48369463:T>C,NM_001844.4:c.3598-75A>G,\N,\N,50/53,Unknown significance,\N,intron_variant,10.37,0.001,1KG_SAS_AF,COL2A1
286330,12:48369491:C>T,NM_001844.4:c.3598-103G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,5.989,0.0014,1KG_AMR_AF,COL2A1
286331,12:48369502:C>T,NM_001844.4:c.3598-114G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,6.362,0.0015,1KG_AFR_AF,COL2A1
286332,12:48369517:C>T,NM_001844.4:c.3598-129G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,1.188,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL2A1
286333,12:48369518:G>A,NM_001844.4:c.3598-130C>T,\N,\N,50/53,Unknown significance,\N,intron_variant,0.164,0.0045,1KG_AFR_AF,COL2A1
286334,12:48369524:C>T,NM_001844.4:c.3598-136G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,3.357,\N,\N,COL2A1
286335,12:48369546:C>CTAT,NM_001844.4:c.3598-161_3598-159dup,\N,\N,50/53,Unknown significance,\N,intron_variant,3.663,\N,\N,COL2A1
286336,12:48369555:C>T,NM_001844.4:c.3598-167G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,4.664,0.001,1KG_EUR_AF,COL2A1
286337,12:48369557:T>G,NM_001844.4:c.3598-169A>C,\N,\N,50/53,Unknown significance,\N,intron_variant,2.203,0.001,1KG_EAS_AF,COL2A1
286338,12:48369584:C>T,NM_001844.4:c.3597+162G>A,\N,\N,50/53,Benign,\N,intron_variant,10.38,0.0151,1KG_AFR_AF,COL2A1
286339,12:48369587:A>T,NM_001844.4:c.3597+159T>A,\N,\N,50/53,Unknown significance,\N,intron_variant,9.742,0.001,1KG_EAS_AF,COL2A1
286340,12:48369614:A>G,NM_001844.4:c.3597+132T>C,\N,\N,50/53,Unknown significance,\N,intron_variant,2.897,0.002,1KG_EAS_AF,COL2A1
286341,12:48369621:G>A,NM_001844.4:c.3597+125C>T,\N,\N,50/53,Unknown significance,\N,intron_variant,4.835,\N,\N,COL2A1
286342,12:48369640:G>A,NM_001844.4:c.3597+106C>T,\N,\N,50/53,Unknown significance,\N,intron_variant,2.651,0.001,1KG_SAS_AF,COL2A1
286343,12:48369648:C>T,NM_001844.4:c.3597+98G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,6.884,0.0015,1KG_AFR_AF,COL2A1
286344,12:48369670:C>T,NM_001844.4:c.3597+76G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,12.13,0.0008,1KG_AFR_AF,COL2A1
286345,12:48369677:C>T,NM_001844.4:c.3597+69G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,0.931,0.0014,1KG_AMR_AF,COL2A1
286346,12:48369684:G>A,NM_001844.4:c.3597+62C>T,\N,\N,50/53,Benign,\N,intron_variant,2.885,0.1021,1KG_AFR_AF,COL2A1
286347,12:48369696:C>T,NM_001844.4:c.3597+50G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,6.682,0.000116279,EVS_EA_AF,COL2A1
286348,12:48369698:C>T,NM_001844.4:c.3597+48G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,2.849,0.000115607,EXAC_EAS_AF,COL2A1
286349,12:48369699:G>A,NM_001844.4:c.3597+47C>T,\N,\N,50/53,Unknown significance,\N,intron_variant,1.838,0.0008,1KG_AFR_AF,COL2A1
286350,12:48369713:C>T,NM_001844.4:c.3597+33G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,6.01,0.000465116,EVS_EA_AF,COL2A1
286351,12:48369716:C>G,NM_001844.4:c.3597+30G>C,\N,\N,50/53,Unknown significance,\N,intron_variant,2.491,0.00331126,EXAC_OTH_AF,COL2A1
286352,12:48369716:C>T,NM_001844.4:c.3597+30G>A,\N,\N,50/53,Unknown significance,\N,intron_variant,4.149,0.0000149979,EXAC_NFE_AF,COL2A1
286353,12:48369717:G>A,NM_001844.4:c.3597+29C>T,\N,\N,50/53,Unknown significance,\N,intron_variant,5.964,0.00112321,EXAC_AMR_AF,COL2A1
286354,12:48369721:G>C,NM_001844.4:c.3597+25C>G,\N,\N,50/53,Unknown significance,\N,intron_variant,7.282,0.000014997,EXAC_NFE_AF,COL2A1
286355,12:48369728:AG>A,NM_001844.4:c.3597+17del,\N,\N,50/53,Unknown significance,\N,intron_variant,7.357,0.00115629,EXAC_AFR_AF,COL2A1
286356,12:48369744:A>C,NM_001844.4:c.3597+2T>G,\N,\N,50/53,Pathogenic,Stickler syndrome,splice_donor_variant,24.9,\N,\N,COL2A1
286357,12:48369745:C>T,NM_001844.4:c.3597+1G>A,\N,\N,50/53,Pathogenic,Stickler syndrome,splice_donor_variant,26.5,\N,\N,COL2A1
286358,12:48369746:A>AG,NM_001844.4:c.3596dup,NP_001835.3:p.Gly1200TrpfsTer53,50/54,\N,Pathogenic,Stickler syndrome,frameshift_variant&splice_region_variant,35,\N,\N,COL2A1
286359,12:48369752:G>A,NM_001844.4:c.3591C>T,NP_001835.3:p.Gly1197=,50/54,\N,Unknown significance,\N,synonymous_variant,11.3,\N,\N,COL2A1
286360,12:48369754:C>T,NM_001844.4:c.3589G>A,NP_001835.3:p.Gly1197Ser,50/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,27,\N,\N,COL2A1
286361,12:48369756:G>A,NM_001844.4:c.3587C>T,NP_001835.3:p.Thr1196Ile,50/54,\N,Unknown significance,\N,missense_variant,22.9,0.00011558,EXAC_EAS_AF,COL2A1
286362,12:48369761:G>A,NM_001844.4:c.3582C>T,NP_001835.3:p.Gly1194=,50/54,\N,Unknown significance,\N,synonymous_variant,15.91,0.001,1KG_SAS_AF,COL2A1
286363,12:48369764:T>C,NM_001844.4:c.3579A>G,NP_001835.3:p.Ser1193=,50/54,\N,Unknown significance,\N,synonymous_variant,8.713,0.000226963,EVS_AA_AF,COL2A1
286364,12:48369765:G>A,NM_001844.4:c.3578C>T,NP_001835.3:p.Ser1193Leu,50/54,\N,Unknown significance,\N,missense_variant,23.9,0.00011558,EXAC_EAS_AF,COL2A1
286365,12:48369767:TCG>GCA,NM_001844.4:c.3574_3576delinsTGC,NP_001835.3:p.Arg1192Cys,50/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,28.9,\N,\N,COL2A1
286366,12:48369768:C>T,NM_001844.4:c.3575G>A,NP_001835.3:p.Arg1192Gln,50/54,\N,Unknown significance,\N,missense_variant,24.6,0.0000605694,EXAC_SAS_AF,COL2A1
286367,12:48369769:G>A,NM_001844.4:c.3574C>T,NP_001835.3:p.Arg1192Ter,50/54,\N,Pathogenic,Stickler syndrome,stop_gained,44,\N,\N,COL2A1
286368,12:48369774:C>T,NM_001844.4:c.3569G>A,NP_001835.3:p.Arg1190His,50/54,\N,Unknown significance,\N,missense_variant,29.8,0.000151194,EXAC_FIN_AF,COL2A1
286369,12:48369777:G>T,NM_001844.4:c.3566C>A,NP_001835.3:p.Pro1189His,50/54,\N,Unknown significance,\N,missense_variant,23.2,\N,\N,COL2A1
286370,12:48369778:G>A,NM_001844.4:c.3565C>T,NP_001835.3:p.Pro1189Ser,50/54,\N,Unknown significance,\N,missense_variant,22.9,0.0000149966,EXAC_NFE_AF,COL2A1
286371,12:48369778:G>T,NM_001844.4:c.3565C>A,NP_001835.3:p.Pro1189Thr,50/54,\N,Unknown significance,\N,missense_variant,22.7,0.0000149966,EXAC_NFE_AF,COL2A1
286372,12:48369780:C>G,NM_001844.4:c.3563G>C,NP_001835.3:p.Gly1188Ala,50/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,24.6,\N,\N,COL2A1
286373,12:48369780:C>T,NM_001844.4:c.3563G>A,NP_001835.3:p.Gly1188Asp,50/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,26.2,\N,\N,COL2A1
286374,12:48369781:C>G,NM_001844.4:c.3562G>C,NP_001835.3:p.Gly1188Arg,50/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,25.9,\N,\N,COL2A1
286375,12:48369782:A>C,NM_001844.4:c.3561T>G,NP_001835.3:p.Pro1187=,50/54,\N,Unknown significance,\N,synonymous_variant,3.649,0.00314922,EXAC_SAS_AF,COL2A1
286376,12:48369792:A>G,NM_001844.4:c.3551T>C,NP_001835.3:p.Ile1184Thr,50/54,\N,Unknown significance,\N,missense_variant,23.1,0.000096302,EXAC_AFR_AF,COL2A1
286377,12:48369797:G>T,NM_001844.4:c.3546C>A,NP_001835.3:p.Gly1182=,50/54,\N,Unknown significance,\N,synonymous_variant,9.988,0.0000149988,EXAC_NFE_AF,COL2A1
286378,12:48369798:C>T,NM_001844.4:c.3545G>A,NP_001835.3:p.Gly1182Asp,50/54,\N,Pathogenic,Platyspondylic skeletal dysplasia| Torrance,missense_variant,25.8,\N,\N,COL2A1
286379,12:48369803:G>T,NM_001844.4:c.3540C>A,NP_001835.3:p.Ile1180=,50/54,\N,Unknown significance,\N,synonymous_variant,12.52,0.0000963206,EXAC_AFR_AF,COL2A1
286380,12:48369808:C>T,NM_001844.4:c.3535G>A,NP_001835.3:p.Gly1179Arg,50/54,\N,Pathogenic,Multiple epiphyseal dysplasia,missense_variant,26.3,\N,\N,COL2A1
286381,12:48369809:A>G,NM_001844.4:c.3534T>C,NP_001835.3:p.Asn1178=,50/54,\N,Benign,\N,synonymous_variant,8.062,0.0061,1KG_AFR_AF,COL2A1
286382,12:48369816:C>A,NM_001844.4:c.3527G>T,NP_001835.3:p.Gly1176Val,50/54,\N,Pathogenic,Multiple epiphyseal dysplasia,missense_variant,26.4,\N,\N,COL2A1
286383,12:48369817:C>T,NM_001844.4:c.3526G>A,NP_001835.3:p.Gly1176Ser,50/54,\N,Pathogenic,Osteoarthritis,missense_variant,26.3,\N,\N,COL2A1
286384,12:48369826:C>G,NM_001844.4:c.3517G>C,NP_001835.3:p.Gly1173Arg,50/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.7,\N,\N,COL2A1
286385,12:48369830:G>T,NM_001844.4:c.3513C>A,NP_001835.3:p.Pro1171=,50/54,\N,Unknown significance,\N,synonymous_variant,9.988,0.000096581,EXAC_AFR_AF,COL2A1
286386,12:48369832:G>A,NM_001844.4:c.3511C>T,NP_001835.3:p.Pro1171Ser,50/54,\N,Unknown significance,\N,missense_variant,22.1,0.000869229,EXAC_AFR_AF,COL2A1
286387,12:48369832:G>C,NM_001844.4:c.3511C>G,NP_001835.3:p.Pro1171Ala,50/54,\N,Unknown significance,\N,missense_variant,17.7,0.0000150213,EXAC_NFE_AF,COL2A1
286388,12:48369835:C>T,NM_001844.4:c.3508G>A,NP_001835.3:p.Gly1170Ser,50/54,\N,Pathogenic,Avascular necrosis of the femur head,missense_variant,27.4,\N,\N,COL2A1
286389,12:48369836:G>A,NM_001844.4:c.3507C>T,NP_001835.3:p.Val1169=,50/54,\N,Unknown significance,\N,synonymous_variant,11.78,0.00110865,EXAC_OTH_AF,COL2A1
286390,12:48369838:C>T,NM_001844.4:c.3505G>A,NP_001835.3:p.Val1169Ile,50/54,\N,Unknown significance,\N,missense_variant,23.2,0.000259381,EXAC_AMR_AF,COL2A1
286391,12:48369839:G>A,NM_001844.4:c.3504C>T,NP_001835.3:p.Pro1168=,50/54,\N,Unknown significance,\N,synonymous_variant,11.78,0.000242336,EXAC_SAS_AF,COL2A1
286392,12:48369845:A>C,NM_001844.4:c.3498T>G,NP_001835.3:p.Pro1166=,50/54,\N,Unknown significance,\N,synonymous_variant,0.167,0.0000150453,EXAC_NFE_AF,COL2A1
286393,12:48369847:GA>G,NM_001844.4:c.3495del,NP_001835.3:p.Pro1166LeufsTer61,50/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,26,\N,\N,COL2A1
286394,12:48369849:G>A,NM_001844.4:c.3494C>T,NP_001835.3:p.Pro1165Leu,50/54,\N,Unknown significance,\N,missense_variant,24.3,0.000116279,EVS_EA_AF,COL2A1
286395,12:48369853:C>A,NM_001844.4:c.3490G>T,NP_001835.3:p.Gly1164Cys,50/54,\N,Pathogenic,Increased nuchal translucency| tricuspid regurgitation & limb defects,missense_variant&splice_region_variant,26.2,\N,\N,COL2A1
286396,12:48369853:C>T,NM_001844.4:c.3490G>A,NP_001835.3:p.Gly1164Ser,50/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant&splice_region_variant,25.5,\N,\N,COL2A1
286397,12:48369856:G>A,NM_001844.4:c.3490-3C>T,\N,\N,49/53,Unknown significance,\N,splice_region_variant&intron_variant,10.91,0.000181774,EXAC_SAS_AF,COL2A1
286398,12:48369858:AAG>A,NM_001844.4:c.3490-7_3490-6del,\N,\N,49/53,Unknown significance,\N,splice_region_variant&intron_variant,8.83,0.000259785,EXAC_AMR_AF,COL2A1
286399,12:48369860:G>A,NM_001844.4:c.3490-7C>T,\N,\N,49/53,Unknown significance,\N,splice_region_variant&intron_variant,6.619,0.0008,1KG_AFR_AF,COL2A1
286400,12:48369862:G>C,NM_001844.4:c.3490-9C>G,\N,\N,49/53,Unknown significance,\N,intron_variant,3.003,0.000115794,EXAC_EAS_AF,COL2A1
286401,12:48369871:C>T,NM_001844.4:c.3490-18G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,1.121,0.000116036,EXAC_EAS_AF,COL2A1
286402,12:48369872:G>A,NM_001844.4:c.3490-19C>T,\N,\N,49/53,Unknown significance,\N,intron_variant,0.571,0.000242454,EXAC_SAS_AF,COL2A1
286403,12:48369872:G>T,NM_001844.4:c.3490-19C>A,\N,\N,49/53,Unknown significance,\N,intron_variant,0.239,0.0014,1KG_AMR_AF,COL2A1
286404,12:48369877:GAA>G,NM_001844.4:c.3490-26_3490-25del,\N,\N,49/53,Unknown significance,\N,intron_variant,0.908,0.0043,1KG_AMR_AF,COL2A1
286405,12:48369881:G>T,NM_001844.4:c.3490-28C>A,\N,\N,49/53,Unknown significance,\N,intron_variant,1.905,0.001,1KG_EAS_AF,COL2A1
286406,12:48369890:C>A,NM_001844.4:c.3490-37G>T,\N,\N,49/53,Unknown significance,\N,intron_variant,3.172,0.0000151916,EXAC_NFE_AF,COL2A1
286407,12:48369890:C>T,NM_001844.4:c.3490-37G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,3.304,0.000485084,EXAC_SAS_AF,COL2A1
286408,12:48369894:A>C,NM_001844.4:c.3490-41T>G,\N,\N,49/53,Unknown significance,\N,intron_variant,3.402,0.000152858,EXAC_FIN_AF,COL2A1
286409,12:48369901:G>C,NM_001844.4:c.3490-48C>G,\N,\N,49/53,Unknown significance,\N,intron_variant,1.23,0.0000152849,EXAC_NFE_AF,COL2A1
286410,12:48369912:G>A,NM_001844.4:c.3490-59C>T,\N,\N,49/53,Unknown significance,\N,intron_variant,1.044,\N,\N,COL2A1
286411,12:48369919:C>T,NM_001844.4:c.3490-66G>A,\N,\N,49/53,Benign,\N,intron_variant,7.086,0.0061,1KG_AFR_AF,COL2A1
286412,12:48369923:G>A,NM_001844.4:c.3490-70C>T,\N,\N,49/53,Benign,\N,intron_variant,4.238,0.1604,1KG_AFR_AF,COL2A1
286413,12:48369943:C>T,NM_001844.4:c.3490-90G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,9.458,0.001,1KG_EUR_AF,COL2A1
286414,12:48369994:G>A,NM_001844.4:c.3490-141C>T,\N,\N,49/53,Unknown significance,\N,intron_variant,3.44,\N,\N,COL2A1
286415,12:48370005:T>A,NM_001844.4:c.3490-152A>T,\N,\N,49/53,Benign,\N,intron_variant,4.902,0.1029,1KG_AFR_AF,COL2A1
286416,12:48370018:C>G,NM_001844.4:c.3490-165G>C,\N,\N,49/53,Unknown significance,\N,intron_variant,5.432,0.001,1KG_SAS_AF,COL2A1
286417,12:48370055:C>T,NM_001844.4:c.3490-202G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,3.668,0.001,1KG_EAS_AF,COL2A1
286418,12:48370075:T>TTCCCAGGGG,NM_001844.4:c.3489+221_3489+222insCCCCTGGGA,\N,\N,49/53,Benign,\N,intron_variant,1,0.1021,1KG_AFR_AF,COL2A1
286419,12:48370087:G>A,NM_001844.4:c.3489+210C>T,\N,\N,49/53,Unknown significance,\N,intron_variant,1.672,\N,\N,COL2A1
286420,12:48370088:C>T,NM_001844.4:c.3489+209G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,1.483,\N,\N,COL2A1
286421,12:48370100:T>C,NM_001844.4:c.3489+197A>G,\N,\N,49/53,Unknown significance,\N,intron_variant,3.52,\N,\N,COL2A1
286422,12:48370114:C>T,NM_001844.4:c.3489+183G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,2.001,0.002,1KG_EAS_AF,COL2A1
286423,12:48370134:G>A,NM_001844.4:c.3489+163C>T,\N,\N,49/53,Unknown significance,\N,intron_variant,2.675,\N,\N,COL2A1
286424,12:48370162:G>A,NM_001844.4:c.3489+135C>T,\N,\N,49/53,Unknown significance,\N,intron_variant,6.509,0.001,1KG_EAS_AF,COL2A1
286425,12:48370170:C>T,NM_001844.4:c.3489+127G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,7.911,\N,\N,COL2A1
286426,12:48370221:C>A,NM_001844.4:c.3489+76G>T,\N,\N,49/53,Unknown significance,\N,intron_variant,5.314,0.001,1KG_SAS_AF,COL2A1
286427,12:48370246:G>T,NM_001844.4:c.3489+51C>A,\N,\N,49/53,Unknown significance,\N,intron_variant,5.018,\N,\N,COL2A1
286428,12:48370248:CCA>C,NM_001844.4:c.3489+47_3489+48del,\N,\N,49/53,Unknown significance,\N,intron_variant,5.21,0.000121168,EXAC_SAS_AF,COL2A1
286429,12:48370252:A>G,NM_001844.4:c.3489+45T>C,\N,\N,49/53,Unknown significance,\N,intron_variant,2.039,0.0000150015,EXAC_NFE_AF,COL2A1
286430,12:48370261:A>G,NM_001844.4:c.3489+36T>C,\N,\N,49/53,Unknown significance,\N,intron_variant,5.612,0.000348837,EVS_EA_AF,COL2A1
286431,12:48370264:G>A,NM_001844.4:c.3489+33C>T,\N,\N,49/53,Unknown significance,\N,intron_variant,4.909,0.0000605914,EXAC_SAS_AF,COL2A1
286432,12:48370265:C>G,NM_001844.4:c.3489+32G>C,\N,\N,49/53,Unknown significance,\N,intron_variant,2.479,0.0000149984,EXAC_NFE_AF,COL2A1
286433,12:48370269:C>T,NM_001844.4:c.3489+28G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,6.357,0.00023116,EXAC_EAS_AF,COL2A1
286434,12:48370271:C>G,NM_001844.4:c.3489+26G>C,\N,\N,49/53,Unknown significance,\N,intron_variant,7.678,0.00011558,EXAC_EAS_AF,COL2A1
286435,12:48370284:C>T,NM_001844.4:c.3489+13G>A,\N,\N,49/53,Unknown significance,\N,intron_variant,5.797,0.0000149916,EXAC_NFE_AF,COL2A1
286436,12:48370286:A>G,NM_001844.4:c.3489+11T>C,\N,\N,49/53,Unknown significance,\N,intron_variant,3.416,0.0000299832,EXAC_NFE_AF,COL2A1
286437,12:48370297:TC>T,NM_001844.4:c.3488del,NP_001835.3:p.Arg1163LysfsTer64,49/54,\N,Pathogenic,Stickler syndrome,frameshift_variant&splice_region_variant,35,\N,\N,COL2A1
286438,12:48370299:T>TAGGGCCAGAAGGACCAGC,NM_001844.4:c.3469_3486dup,NP_001835.3:p.Ala1157_Pro1162dup,49/54,\N,Likely pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,inframe_insertion,14.02,\N,\N,COL2A1
286439,12:48370313:C>G,NM_001844.4:c.3473G>C,NP_001835.3:p.Gly1158Ala,49/54,\N,Pathogenic,Stickler syndrome,missense_variant,25.1,\N,\N,COL2A1
286440,12:48370321:A>AC,NM_001844.4:c.3464dup,NP_001835.3:p.Pro1156SerfsTer8,49/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286441,12:48370322:C>A,NM_001844.4:c.3464G>T,NP_001835.3:p.Gly1155Val,49/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26.5,\N,\N,COL2A1
286442,12:48370331:C>T,NM_001844.4:c.3455G>A,NP_001835.3:p.Gly1152Asp,49/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,27,\N,\N,COL2A1
286443,12:48370334:T>C,NM_001844.4:c.3452A>G,NP_001835.3:p.Gln1151Arg,49/54,\N,Unknown significance,\N,missense_variant,21,0.000115607,EXAC_EAS_AF,COL2A1
286444,12:48370336:G>A,NM_001844.4:c.3450C>T,NP_001835.3:p.Asp1150=,49/54,\N,Unknown significance,\N,synonymous_variant,8.707,0.0008,1KG_AFR_AF,COL2A1
286445,12:48370337:T>A,NM_001844.4:c.3449A>T,NP_001835.3:p.Asp1150Val,49/54,\N,Unknown significance,\N,missense_variant,25.4,0.001,1KG_SAS_AF,COL2A1
286446,12:48370338:C>A,NM_001844.4:c.3448G>T,NP_001835.3:p.Asp1150Tyr,49/54,\N,Unknown significance,\N,missense_variant,26.7,0.0000605694,EXAC_SAS_AF,COL2A1
286447,12:48370339:T>C,NM_001844.4:c.3447A>G,NP_001835.3:p.Gly1149=,49/54,\N,Unknown significance,\N,synonymous_variant,3.596,0.0000865052,EXAC_AMR_AF,COL2A1
286448,12:48370339:T>CAGCAGGA,NM_001844.4:c.3447delinsTCCTGCTG,NP_001835.3:p.Asp1150ProfsTer16,49/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,\N,\N,\N,COL2A1
286449,12:48370347:G>A,NM_001844.4:c.3439C>T,NP_001835.3:p.Pro1147Ser,49/54,\N,Unknown significance,\N,missense_variant,19.1,0.0008,1KG_AFR_AF,COL2A1
286450,12:48370347:G>C,NM_001844.4:c.3439C>G,NP_001835.3:p.Pro1147Ala,49/54,\N,Unknown significance,\N,missense_variant,13.73,0.000115607,EXAC_EAS_AF,COL2A1
286451,12:48370355:G>A,NM_001844.4:c.3436-5C>T,\N,\N,48/53,Unknown significance,\N,splice_region_variant&intron_variant,13.54,0.00003004,EXAC_NFE_AF,COL2A1
286452,12:48370361:G>A,NM_001844.4:c.3436-11C>T,\N,\N,48/53,Unknown significance,\N,intron_variant,18.73,0.0000150344,EXAC_NFE_AF,COL2A1
286453,12:48370364:A>C,NM_001844.4:c.3436-14T>G,\N,\N,48/53,Unknown significance,\N,intron_variant,15.39,0.0000150448,EXAC_NFE_AF,COL2A1
286454,12:48370366:A>G,NM_001844.4:c.3436-16T>C,\N,\N,48/53,Unknown significance,\N,intron_variant,13.36,0.0000301078,EXAC_NFE_AF,COL2A1
286455,12:48370379:C>T,NM_001844.4:c.3436-29G>A,\N,\N,48/53,Unknown significance,\N,intron_variant,5.869,0.000096918,EXAC_AFR_AF,COL2A1
286456,12:48370380:G>A,NM_001844.4:c.3436-30C>T,\N,\N,48/53,Benign,\N,intron_variant,8.832,0.0133,1KG_SAS_AF,COL2A1
286457,12:48370383:C>T,NM_001844.4:c.3436-33G>A,\N,\N,48/53,Unknown significance,\N,intron_variant,17.77,0.000117343,EXAC_EAS_AF,COL2A1
286458,12:48370391:A>G,NM_001844.4:c.3436-41T>C,\N,\N,48/53,Unknown significance,\N,intron_variant,13.45,\N,\N,COL2A1
286459,12:48370398:T>C,NM_001844.4:c.3436-48A>G,\N,\N,48/53,Unknown significance,\N,intron_variant,0.961,0.0014,1KG_AMR_AF,COL2A1
286460,12:48370399:A>G,NM_001844.4:c.3436-49T>C,\N,\N,48/53,Unknown significance,\N,intron_variant,4.271,0.0000152774,EXAC_NFE_AF,COL2A1
286461,12:48370400:T>C,NM_001844.4:c.3436-50A>G,\N,\N,48/53,Unknown significance,\N,intron_variant,0.418,0.0000152999,EXAC_NFE_AF,COL2A1
286462,12:48370402:T>C,NM_001844.4:c.3436-52A>G,\N,\N,48/53,Unknown significance,\N,intron_variant,1.718,0.000216544,EVS_EA_AF,COL2A1
286463,12:48370423:A>G,NM_001844.4:c.3436-73T>C,\N,\N,48/53,Benign,\N,intron_variant,4.583,0.1029,1KG_AFR_AF,COL2A1
286464,12:48370470:C>G,NM_001844.4:c.3436-120G>C,\N,\N,48/53,Unknown significance,\N,intron_variant,6.777,\N,\N,COL2A1
286465,12:48370485:C>T,NM_001844.4:c.3435+110G>A,\N,\N,48/53,Unknown significance,\N,intron_variant,5.791,0.001,1KG_EUR_AF,COL2A1
286466,12:48370504:G>A,NM_001844.4:c.3435+91C>T,\N,\N,48/53,Unknown significance,\N,intron_variant,7.601,\N,\N,COL2A1
286467,12:48370512:G>C,NM_001844.4:c.3435+83C>G,\N,\N,48/53,Likely pathogenic,Stickler syndrome,intron_variant,5.994,\N,\N,COL2A1
286468,12:48370516:T>A,NM_001844.4:c.3435+79A>T,\N,\N,48/53,Likely pathogenic,Stickler syndrome,intron_variant,9.244,\N,\N,COL2A1
286469,12:48370558:A>G,NM_001844.4:c.3435+37T>C,\N,\N,48/53,Unknown significance,\N,intron_variant,9.565,\N,\N,COL2A1
286470,12:48370564:C>CG,NM_001844.4:c.3435+30dup,\N,\N,48/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286471,12:48370565:G>A,NM_001844.4:c.3435+30C>T,\N,\N,48/53,Unknown significance,\N,intron_variant,2.89,0.0000796432,EXAC_SAS_AF,COL2A1
286472,12:48370565:G>C,NM_001844.4:c.3435+30C>G,\N,\N,48/53,Unknown significance,\N,intron_variant,0.583,0.0000796432,EXAC_SAS_AF,COL2A1
286473,12:48370572:C>T,NM_001844.4:c.3435+23G>A,\N,\N,48/53,Unknown significance,\N,intron_variant,7.251,0.00146549,EXAC_AMR_AF,COL2A1
286474,12:48370576:C>T,NM_001844.4:c.3435+19G>A,\N,\N,48/53,Unknown significance,\N,intron_variant,1.312,\N,\N,COL2A1
286475,12:48370577:G>A,NM_001844.4:c.3435+18C>T,\N,\N,48/53,Unknown significance,\N,intron_variant,3.478,0.001,1KG_EAS_AF,COL2A1
286476,12:48370577:G>T,NM_001844.4:c.3435+18C>A,\N,\N,48/53,Likely pathogenic,Stickler syndrome,intron_variant,1.164,\N,\N,COL2A1
286477,12:48370588:C>T,NM_001844.4:c.3435+7G>A,\N,\N,48/53,Unknown significance,\N,splice_region_variant&intron_variant,14.85,0.000020065,EXAC_NFE_AF,COL2A1
286478,12:48370595:A>G,NM_001844.4:c.3435T>C,NP_001835.3:p.Pro1145=,48/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.97,\N,\N,COL2A1
286479,12:48370603:C>A,NM_001844.4:c.3427G>T,NP_001835.3:p.Gly1143Cys,48/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,28.7,\N,\N,COL2A1
286480,12:48370603:C>T,NM_001844.4:c.3427G>A,NP_001835.3:p.Gly1143Ser,48/54,\N,Pathogenic,Short-limbed dwarfism,missense_variant,28.5,\N,\N,COL2A1
286481,12:48370604:G>A,NM_001844.4:c.3426C>T,NP_001835.3:p.Pro1142=,48/54,\N,Unknown significance,\N,synonymous_variant,12.69,0.000513242,EXAC_AMR_AF,COL2A1
286482,12:48370607:C>T,NM_001844.4:c.3423G>A,NP_001835.3:p.Leu1141=,48/54,\N,Unknown significance,\N,synonymous_variant,14.23,0.000382068,EXAC_EAS_AF,COL2A1
286483,12:48370609:G>A,NM_001844.4:c.3421C>T,NP_001835.3:p.Leu1141=,48/54,\N,Unknown significance,\N,synonymous_variant,11.31,0.0000177816,EXAC_NFE_AF,COL2A1
286484,12:48370625:G>C,NM_033150.2:c.3198C>G,NP_149162.2:p.Phe1066Leu,47/53,\N,Unknown significance,\N,missense_variant,22.7,0.000223414,EXAC_FIN_AF,COL2A1
286485,12:48370632:C>T,NM_001844.4:c.3398G>A,NP_001835.3:p.Arg1133His,48/54,\N,Unknown significance,\N,missense_variant,29.8,0.000100523,EXAC_AMR_AF,COL2A1
286486,12:48370638:C>G,NM_001844.4:c.3392G>C,NP_001835.3:p.Gly1131Ala,48/54,\N,Pathogenic,Stickler syndrome,missense_variant,24.2,\N,\N,COL2A1
286487,12:48370645:G>A,NM_001844.4:c.3385C>T,NP_001835.3:p.Leu1129=,48/54,\N,Unknown significance,\N,synonymous_variant,10.4,0.000667557,EXAC_EAS_AF,COL2A1
286488,12:48370646:G>A,NM_001844.4:c.3384C>T,NP_001835.3:p.Gly1128=,48/54,\N,Unknown significance,\N,synonymous_variant,13.05,0.003091,EXAC_AFR_AF,COL2A1
286489,12:48370647:C>A,NM_001844.4:c.3383G>T,NP_001835.3:p.Gly1128Val,48/54,\N,Pathogenic,Kniest dysplasia,missense_variant,26,\N,\N,COL2A1
286490,12:48370650:C>T,NM_033150.2:c.3173G>A,NP_149162.2:p.Arg1058Lys,47/53,\N,Unknown significance,\N,missense_variant,23.9,0.0000189761,EXAC_NFE_AF,COL2A1
286491,12:48370654:C>T,NM_001844.4:c.3376G>A,NP_001835.3:p.Glu1126Lys,48/54,\N,Unknown significance,\N,missense_variant,25.1,\N,\N,COL2A1
286492,12:48370655:G>A,NM_001844.4:c.3375C>T,NP_001835.3:p.Gly1125=,48/54,\N,Unknown significance,\N,synonymous_variant,13.94,0.000139782,EXAC_EAS_AF,COL2A1
286493,12:48370666:C>T,NM_001844.4:c.3364G>A,NP_001835.3:p.Gly1122Arg,48/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,26.2,\N,\N,COL2A1
286494,12:48370671:T>TAG,NM_001844.4:c.3358_3359insCT,NP_001835.3:p.Glu1120AlafsTer11,48/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,\N,\N,\N,COL2A1
286495,12:48370672:C>CAG,NM_001844.4:c.3357_3358insCT,NP_001835.3:p.Glu1120LeufsTer11,48/54,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,COL2A1
286496,12:48370675:C>T,NM_001844.4:c.3355G>A,NP_001835.3:p.Gly1119Arg,48/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,26.5,\N,\N,COL2A1
286497,12:48370677:T>C,NM_001844.4:c.3353A>G,NP_001835.3:p.Lys1118Arg,48/54,\N,Unknown significance,\N,missense_variant,22.8,0.000136351,EXAC_AMR_AF,COL2A1
286498,12:48370686:C>T,NM_033150.2:c.3137G>A,NP_149162.2:p.Arg1046Lys,47/53,\N,Unknown significance,\N,missense_variant,24.1,0.000164609,EXAC_SAS_AF,COL2A1
286499,12:48370690:G>A,NM_001844.4:c.3340C>T,NP_001835.3:p.Pro1114Ser,48/54,\N,Unknown significance,\N,missense_variant,23.2,0.0000246281,EXAC_NFE_AF,COL2A1
286500,12:48370691:G>T,NM_001844.4:c.3339C>A,NP_001835.3:p.Gly1113=,48/54,\N,Unknown significance,\N,synonymous_variant,8.446,0.0000248164,EXAC_NFE_AF,COL2A1
286501,12:48370693:C>A,NM_001844.4:c.3337G>T,NP_001835.3:p.Gly1113Cys,48/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,27.1,\N,\N,COL2A1
286502,12:48370702:C>A,NM_001844.4:c.3328G>T,NP_001835.3:p.Gly1110Cys,48/54,\N,Pathogenic,Achondrogenesis 2,missense_variant&splice_region_variant,26.5,\N,\N,COL2A1
286503,12:48370705:G>A,NM_001844.4:c.3328-3C>T,\N,\N,47/53,Unknown significance,\N,splice_region_variant&intron_variant,11.7,0.0000876424,EXAC_SAS_AF,COL2A1
286504,12:48370710:C>T,NM_001844.4:c.3328-8G>A,\N,\N,47/53,Unknown significance,\N,splice_region_variant&intron_variant,8.61,\N,\N,COL2A1
286505,12:48370715:C>T,NM_001844.4:c.3328-13G>A,\N,\N,47/53,Unknown significance,\N,intron_variant,2.48,0.000116306,EVS_EA_AF,COL2A1
286506,12:48370722:C>A,NM_001844.4:c.3328-20G>T,\N,\N,47/53,Benign,\N,intron_variant,0.953,0.101722,EXAC_AFR_AF,COL2A1
286507,12:48370722:C>T,NM_001844.4:c.3328-20G>A,\N,\N,47/53,Unknown significance,\N,intron_variant,0.705,0.0000338203,EXAC_NFE_AF,COL2A1
286508,12:48370735:T>A,NM_001844.4:c.3328-33A>T,\N,\N,47/53,Unknown significance,\N,intron_variant,8.815,0.0000409903,EXAC_NFE_AF,COL2A1
286509,12:48370739:G>A,NM_001844.4:c.3328-37C>T,\N,\N,47/53,Unknown significance,\N,intron_variant,11.4,\N,\N,COL2A1
286510,12:48370748:A>G,NM_001844.4:c.3328-46T>C,\N,\N,47/53,Unknown significance,\N,intron_variant,10.97,0.000095584,EXAC_NFE_AF,COL2A1
286511,12:48370753:C>A,NM_001844.4:c.3328-51G>T,\N,\N,47/53,Unknown significance,\N,intron_variant,10.45,\N,\N,COL2A1
286512,12:48370773:G>A,NM_001844.4:c.3328-71C>T,\N,\N,47/53,Unknown significance,\N,intron_variant,6.394,\N,\N,COL2A1
286513,12:48370778:G>A,NM_001844.4:c.3328-76C>T,\N,\N,47/53,Unknown significance,\N,intron_variant,4.946,0.001,1KG_SAS_AF,COL2A1
286514,12:48370791:A>C,NM_001844.4:c.3328-89T>G,\N,\N,47/53,Benign,\N,intron_variant,3.953,0.1014,1KG_AFR_AF,COL2A1
286515,12:48370801:G>A,NM_001844.4:c.3327+84C>T,\N,\N,47/53,Unknown significance,\N,intron_variant,0.536,0.001,1KG_EUR_AF,COL2A1
286516,12:48370848:CTGG>C,NM_001844.4:c.3327+34_3327+36del,\N,\N,47/53,Unknown significance,\N,intron_variant,3.635,\N,\N,COL2A1
286517,12:48370850:G>C,NM_001844.4:c.3327+35C>G,\N,\N,47/53,Unknown significance,\N,intron_variant,0.696,0.00007921,EXAC_NFE_AF,COL2A1
286518,12:48370853:G>A,NM_001844.4:c.3327+32C>T,\N,\N,47/53,Unknown significance,\N,intron_variant,6.26,0.0000906618,EXAC_SAS_AF,COL2A1
286519,12:48370856:G>A,NM_001844.4:c.3327+29C>T,\N,\N,47/53,Unknown significance,\N,intron_variant,6.973,\N,\N,COL2A1
286520,12:48370862:G>A,NM_001844.4:c.3327+23C>T,\N,\N,47/53,Unknown significance,\N,intron_variant,3.528,0.000454133,EXAC_AFR_AF,COL2A1
286521,12:48370862:G>C,NM_001844.4:c.3327+23C>G,\N,\N,47/53,Unknown significance,\N,intron_variant,1.287,0.001,1KG_SAS_AF,COL2A1
286522,12:48370868:G>C,NM_001844.4:c.3327+17C>G,\N,\N,47/53,Unknown significance,\N,intron_variant,1.095,0.000261917,EXAC_AMR_AF,COL2A1
286523,12:48370882:C>T,NM_001844.4:c.3327+3G>A,\N,\N,47/53,Benign,\N,splice_region_variant&intron_variant,7.314,0.0069,1KG_EAS_AF,COL2A1
286524,12:48370886:TG>T,NM_001844.4:c.3325del,NP_001835.3:p.Gln1109ArgfsTer21,47/54,\N,Pathogenic,Stickler syndrome,frameshift_variant&splice_region_variant,33,\N,\N,COL2A1
286525,12:48370892:C>T,NM_001844.4:c.3320G>A,NP_001835.3:p.Gly1107Glu,47/54,\N,Unknown significance,\N,missense_variant,25.3,0.001,1KG_EUR_AF,COL2A1
286526,12:48370896:G>A,NM_001844.4:c.3316C>T,NP_001835.3:p.Arg1106Trp,47/54,\N,Unknown significance,\N,missense_variant,28,0.000226963,EVS_AA_AF,COL2A1
286527,12:48370896:G>C,NM_001844.4:c.3316C>G,NP_001835.3:p.Arg1106Gly,47/54,\N,Unknown significance,\N,missense_variant,25.5,0.0000214731,EXAC_NFE_AF,COL2A1
286528,12:48370900:T>C,NM_001844.4:c.3312A>G,NP_001835.3:p.Gly1104=,47/54,\N,Unknown significance,\N,synonymous_variant,3.273,0.0000830013,EXAC_SAS_AF,COL2A1
286529,12:48370907:G>A,NM_001844.4:c.3305C>T,NP_001835.3:p.Pro1102Leu,47/54,\N,Unknown significance,\N,missense_variant,23.2,0.0000204876,EXAC_NFE_AF,COL2A1
286530,12:48370911:C>T,NM_001844.4:c.3301G>A,NP_001835.3:p.Gly1101Arg,47/54,\N,Pathogenic,Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia| congenital type,missense_variant,24.7,\N,\N,COL2A1
286531,12:48370925:G>A,NM_001844.4:c.3287C>T,NP_001835.3:p.Pro1096Leu,47/54,\N,Unknown significance,\N,missense_variant,23.9,0.000116306,EVS_EA_AF,COL2A1
286532,12:48370926:G>A,NM_001844.4:c.3286C>T,NP_001835.3:p.Pro1096Ser,47/54,\N,Unknown significance,\N,missense_variant,22.7,0.0000194704,EXAC_NFE_AF,COL2A1
286533,12:48370929:C>T,NM_001844.4:c.3283G>A,NP_001835.3:p.Gly1095Ser,47/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.6,\N,\N,COL2A1
286534,12:48370932:G>A,NM_001844.4:c.3280C>T,NP_001835.3:p.Gln1094Ter,47/54,\N,Pathogenic,Stickler syndrome,stop_gained,41,\N,\N,COL2A1
286535,12:48370937:C>T,NM_001844.4:c.3275G>A,NP_001835.3:p.Gly1092Asp,47/54,\N,Likely pathogenic,Spondyloepiphyseal dysplasia congenita,missense_variant&splice_region_variant,24.3,\N,\N,COL2A1
286536,12:48370955:C>T,NM_001844.4:c.3274-17G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,0.504,0.000153516,EXAC_EAS_AF,COL2A1
286537,12:48370956:G>A,NM_001844.4:c.3274-18C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,1.12,0.003,1KG_AFR_AF,COL2A1
286538,12:48370960:C>T,NM_001844.4:c.3274-22G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,4.536,0.00151976,EXAC_OTH_AF,COL2A1
286539,12:48370961:G>A,NM_001844.4:c.3274-23C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,5.694,0.0000184176,EXAC_NFE_AF,COL2A1
286540,12:48370963:CAGAGA>C,NM_001844.4:c.3274-30_3274-26del,\N,\N,46/53,Unknown significance,\N,intron_variant,8.007,0.0000728014,EXAC_SAS_AF,COL2A1
286541,12:48370970:A>C,NM_001844.4:c.3274-32T>G,\N,\N,46/53,Benign,\N,intron_variant,0.762,0.00920338,EXAC_EAS_AF,COL2A1
286542,12:48370972:G>T,NM_001844.4:c.3274-34C>A,\N,\N,46/53,Unknown significance,\N,intron_variant,4.242,0.0000181679,EXAC_NFE_AF,COL2A1
286543,12:48370981:G>A,NM_001844.4:c.3274-43C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,3.674,0.0000178444,EXAC_NFE_AF,COL2A1
286544,12:48370983:T>A,NM_001844.4:c.3274-45A>T,\N,\N,46/53,Unknown significance,\N,intron_variant,6.76,0.0000695507,EXAC_SAS_AF,COL2A1
286545,12:48370983:T>C,NM_001844.4:c.3274-45A>G,\N,\N,46/53,Unknown significance,\N,intron_variant,4.14,0.0000177987,EXAC_NFE_AF,COL2A1
286546,12:48370986:G>C,NM_001844.4:c.3274-48C>G,\N,\N,46/53,Unknown significance,\N,intron_variant,0.122,0.000146585,EXAC_EAS_AF,COL2A1
286547,12:48370988:G>A,NM_001844.4:c.3274-50C>T,\N,\N,46/53,Benign,\N,intron_variant,5.285,0.0129369,EVS_AA_AF,COL2A1
286548,12:48370990:C>T,NM_001844.4:c.3274-52G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,6.453,0.0000680457,EXAC_SAS_AF,COL2A1
286549,12:48371006:G>A,NM_001844.4:c.3274-68C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,5.47,0.001,1KG_EUR_AF,COL2A1
286550,12:48371010:C>T,NM_001844.4:c.3274-72G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,4.715,0.0008,1KG_AFR_AF,COL2A1
286551,12:48371011:T>C,NM_001844.4:c.3274-73A>G,\N,\N,46/53,Benign,\N,intron_variant,3.697,0.0998,1KG_AFR_AF,COL2A1
286552,12:48371013:C>T,NM_001844.4:c.3274-75G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,5.979,0.001,1KG_EAS_AF,COL2A1
286553,12:48371045:A>G,NM_001844.4:c.3273+58T>C,\N,\N,46/53,Benign,\N,intron_variant,9.355,0.0696,1KG_EUR_AF,COL2A1
286554,12:48371050:C>T,NM_001844.4:c.3273+53G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,6.865,0.001,1KG_SAS_AF,COL2A1
286555,12:48371053:A>G,NM_001844.4:c.3273+50T>C,\N,\N,46/53,Unknown significance,\N,intron_variant,3.63,0.0000993049,EXAC_AFR_AF,COL2A1
286556,12:48371057:C>G,NM_001844.4:c.3273+46G>C,\N,\N,46/53,Unknown significance,\N,intron_variant,1.515,0.00011558,EXAC_EAS_AF,COL2A1
286557,12:48371061:C>T,NM_001844.4:c.3273+42G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,0.7,0.0000998801,EXAC_AFR_AF,COL2A1
286558,12:48371062:G>A,NM_001844.4:c.3273+41C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,0.478,0.000151286,EXAC_FIN_AF,COL2A1
286559,12:48371064:G>A,NM_001844.4:c.3273+39C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,0.007,0.000121124,EXAC_SAS_AF,COL2A1
286560,12:48371067:G>A,NM_001844.4:c.3273+36C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,7.937,0.000226963,EVS_AA_AF,COL2A1
286561,12:48371069:G>A,NM_001844.4:c.3273+34C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,1.394,0.0000864753,EXAC_AMR_AF,COL2A1
286562,12:48371070:G>A,NM_001844.4:c.3273+33C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,1.893,0.000231107,EXAC_EAS_AF,COL2A1
286563,12:48371071:A>C,NM_001844.4:c.3273+32T>G,\N,\N,46/53,Unknown significance,\N,intron_variant,1.622,0.0000150155,EXAC_NFE_AF,COL2A1
286564,12:48371075:C>T,NM_001844.4:c.3273+28G>A,\N,\N,46/53,Unknown significance,\N,intron_variant,1.275,0.000060562,EXAC_SAS_AF,COL2A1
286565,12:48371076:G>A,NM_001844.4:c.3273+27C>T,\N,\N,46/53,Unknown significance,\N,intron_variant,0.226,0.00030281,EXAC_SAS_AF,COL2A1
286566,12:48371076:G>C,NM_001844.4:c.3273+27C>G,\N,\N,46/53,Unknown significance,\N,intron_variant,0.037,0.00499319,EVS_AA_AF,COL2A1
286567,12:48371098:C>T,NM_001844.4:c.3273+5G>A,\N,\N,46/53,Unknown significance,\N,splice_region_variant&intron_variant,19.35,\N,\N,COL2A1
286568,12:48371099:T>A,NM_001844.4:c.3273+4A>T,\N,\N,46/53,Unknown significance,\N,splice_region_variant&intron_variant,18.27,0.000115554,EXAC_EAS_AF,COL2A1
286569,12:48371105:C>T,NM_001844.4:c.3271G>A,NP_001835.3:p.Ala1091Thr,46/54,\N,Likely benign,\N,missense_variant&splice_region_variant,15.94,0.0000150096,EXAC_NFE_AF,COL2A1
286570,12:48371110:C>A,NM_001844.4:c.3266G>T,NP_001835.3:p.Gly1089Val,46/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26.1,\N,\N,COL2A1
286571,12:48371110:CCT>C,NM_001844.4:c.3264_3265del,NP_001835.3:p.Gly1089ArgfsTer28,46/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286572,12:48371111:CTCTG>C,NM_001844.4:c.3261_3264del,NP_001835.3:p.Asp1087GlufsTer42,46/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,36,\N,\N,COL2A1
286573,12:48371119:C>A,NM_001844.4:c.3257G>T,NP_001835.3:p.Gly1086Val,46/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,26.4,\N,\N,COL2A1
286574,12:48371124:C>A,NM_033150.2:c.3045G>T,NP_149162.2:p.Lys1015Asn,45/53,\N,Unknown significance,\N,missense_variant,22.4,0.000172831,EXAC_AMR_AF,COL2A1
286575,12:48371134:G>A,NM_001844.4:c.3242C>T,NP_001835.3:p.Pro1081Leu,46/54,\N,Unknown significance,\N,missense_variant,24.8,0.000060562,EXAC_SAS_AF,COL2A1
286576,12:48371135:G>A,NM_001844.4:c.3241C>T,NP_001835.3:p.Pro1081Ser,46/54,\N,Unknown significance,\N,missense_variant,22.6,0.000115554,EXAC_EAS_AF,COL2A1
286577,12:48371141:C>T,NM_001844.4:c.3235G>A,NP_001835.3:p.Ala1079Thr,46/54,\N,Unknown significance,\N,missense_variant,21.6,0.00193798,EXAC_SAS_AF,COL2A1
286578,12:48371142:G>A,NM_001844.4:c.3234C>T,NP_001835.3:p.Pro1078=,46/54,\N,Unknown significance,\N,synonymous_variant,12.13,0.0014,1KG_AMR_AF,COL2A1
286579,12:48371146:C>A,NM_001844.4:c.3230G>T,NP_001835.3:p.Gly1077Val,46/54,\N,Likely pathogenic,\N,missense_variant,25.3,\N,\N,COL2A1
286580,12:48371147:CA>C,NM_001844.4:c.3228del,NP_001835.3:p.Gly1077AlafsTer53,46/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,34,\N,\N,COL2A1
286581,12:48371148:A>G,NM_001844.4:c.3228T>C,NP_001835.3:p.Pro1076=,46/54,\N,Unknown significance,\N,synonymous_variant,5.927,0.0000605694,EXAC_SAS_AF,COL2A1
286582,12:48371149:G>A,NM_001844.4:c.3227C>T,NP_001835.3:p.Pro1076Leu,46/54,\N,Unknown significance,\N,missense_variant,25,0.0008,1KG_AFR_AF,COL2A1
286583,12:48371152:G>T,NM_001844.4:c.3224C>A,NP_001835.3:p.Ser1075Tyr,46/54,\N,Unknown significance,\N,missense_variant,24.3,0.0000150236,EXAC_NFE_AF,COL2A1
286584,12:48371154:G>C,NM_001844.4:c.3222C>G,NP_001835.3:p.Gly1074=,46/54,\N,Unknown significance,\N,synonymous_variant,7.841,0.0000150263,EXAC_NFE_AF,COL2A1
286585,12:48371156:C>T,NM_001844.4:c.3220G>A,NP_001835.3:p.Gly1074Ser,46/54,\N,Pathogenic,Hypochondrogenesis; HYPOCHONDROGENESIS,missense_variant,26,\N,\N,COL2A1
286586,12:48371167:G>T,NM_001844.4:c.3209C>A,NP_001835.3:p.Pro1070His,46/54,\N,Unknown significance,\N,missense_variant,22.7,0.000115607,EXAC_EAS_AF,COL2A1
286587,12:48371169:G>C,NM_001844.4:c.3207C>G,NP_001835.3:p.Ala1069=,46/54,\N,Unknown significance,\N,synonymous_variant,8.237,0.0000301096,EXAC_NFE_AF,COL2A1
286588,12:48371170:G>T,NM_033150.2:c.2999C>A,NP_149162.2:p.Ala1000Asp,45/53,\N,Unknown significance,\N,missense_variant,23.4,0.0000150621,EXAC_NFE_AF,COL2A1
286589,12:48371171:C>G,NM_001844.4:c.3205G>C,NP_001835.3:p.Ala1069Pro,46/54,\N,Unknown significance,\N,missense_variant,15.45,0.0000980392,EXAC_AFR_AF,COL2A1
286590,12:48371171:C>T,NM_001844.4:c.3205G>A,NP_001835.3:p.Ala1069Thr,46/54,\N,Unknown significance,\N,missense_variant,20.1,0.001,1KG_EAS_AF,COL2A1
286591,12:48371182:C>A,NM_001844.4:c.3194G>T,NP_001835.3:p.Gly1065Val,46/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,24.8,\N,\N,COL2A1
286592,12:48371186:C>T,NM_001844.4:c.3190G>A,NP_001835.3:p.Val1064Met,46/54,\N,Likely benign,\N,missense_variant,8.159,0.0000150871,EXAC_NFE_AF,COL2A1
286593,12:48371187:A>G,NM_001844.4:c.3189T>C,NP_001835.3:p.Ala1063=,46/54,\N,Unknown significance,\N,synonymous_variant,0.082,0.000115768,EXAC_EAS_AF,COL2A1
286594,12:48371191:C>G,NM_001844.4:c.3185G>C,NP_001835.3:p.Gly1062Ala,46/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,23.9,\N,\N,COL2A1
286595,12:48371203:C>A,NM_001844.4:c.3173G>T,NP_001835.3:p.Arg1058Leu,46/54,\N,Unknown significance,\N,missense_variant,29.9,0.000116063,EXAC_EAS_AF,COL2A1
286596,12:48371203:C>T,NM_001844.4:c.3173G>A,NP_001835.3:p.Arg1058His,46/54,\N,Unknown significance,\N,missense_variant,29.4,0.0000151286,EXAC_NFE_AF,COL2A1
286597,12:48371204:G>A,NM_001844.4:c.3172C>T,NP_001835.3:p.Arg1058Cys,46/54,\N,Unknown significance,\N,missense_variant,28.9,0.000195313,EXAC_AFR_AF,COL2A1
286598,12:48371204:G>T,NM_001844.4:c.3172C>A,NP_001835.3:p.Arg1058Ser,46/54,\N,Unknown significance,\N,missense_variant,26.5,0.000453926,EVS_AA_AF,COL2A1
286599,12:48371217:G>A,NM_001844.4:c.3166-7C>T,\N,\N,45/53,Unknown significance,\N,splice_region_variant&intron_variant,14.34,0.00019604,EXAC_AFR_AF,COL2A1
286600,12:48371224:G>A,NM_001844.4:c.3166-14C>T,\N,\N,45/53,Unknown significance,\N,intron_variant,15.63,0.0008,1KG_AFR_AF,COL2A1
286601,12:48371233:C>A,NM_001844.4:c.3166-23G>T,\N,\N,45/53,Unknown significance,\N,intron_variant,16.37,0.001,1KG_EAS_AF,COL2A1
286602,12:48371236:A>C,NM_001844.4:c.3166-26T>G,\N,\N,45/53,Unknown significance,\N,intron_variant,13.26,0.00112867,EXAC_OTH_AF,COL2A1
286603,12:48371250:C>T,NM_001844.4:c.3166-40G>A,\N,\N,45/53,Unknown significance,\N,intron_variant,12.85,0.0000311643,EXAC_NFE_AF,COL2A1
286604,12:48371280:G>A,NM_001844.4:c.3166-70C>T,\N,\N,45/53,Unknown significance,\N,intron_variant,2.135,0.001,1KG_EUR_AF,COL2A1
286605,12:48371303:C>T,NM_001844.4:c.3165+80G>A,\N,\N,45/53,Benign,\N,intron_variant,6.846,0.005,1KG_EUR_AF,COL2A1
286606,12:48371332:C>T,NM_001844.4:c.3165+51G>A,\N,\N,45/53,Unknown significance,\N,intron_variant,2.833,0.000116279,EVS_EA_AF,COL2A1
286607,12:48371334:A>G,NM_001844.4:c.3165+49T>C,\N,\N,45/53,Unknown significance,\N,intron_variant,3.48,0.0000152101,EXAC_NFE_AF,COL2A1
286608,12:48371340:T>C,NM_001844.4:c.3165+43A>G,\N,\N,45/53,Benign,\N,intron_variant,2.199,0.1059,1KG_AFR_AF,COL2A1
286609,12:48371343:C>A,NM_001844.4:c.3165+40G>T,\N,\N,45/53,Unknown significance,\N,intron_variant,8.531,0.000116387,EXAC_EAS_AF,COL2A1
286610,12:48371344:C>G,NM_001844.4:c.3165+39G>C,\N,\N,45/53,Benign,\N,intron_variant,4.551,0.025,1KG_AFR_AF,COL2A1
286611,12:48371345:TC>T,NM_001844.4:c.3165+37del,\N,\N,45/53,Unknown significance,\N,intron_variant,1.766,0.000116387,EXAC_EAS_AF,COL2A1
286612,12:48371351:A>G,NM_001844.4:c.3165+32T>C,\N,\N,45/53,Unknown significance,\N,intron_variant,7.462,0.000174307,EXAC_AMR_AF,COL2A1
286613,12:48371356:C>T,NM_001844.4:c.3165+27G>A,\N,\N,45/53,Unknown significance,\N,intron_variant,6.684,0.0000871232,EXAC_AMR_AF,COL2A1
286614,12:48371359:C>T,NM_001844.4:c.3165+24G>A,\N,\N,45/53,Unknown significance,\N,intron_variant,5.691,0.0000975419,EXAC_AFR_AF,COL2A1
286615,12:48371362:A>C,NM_001844.4:c.3165+21T>G,\N,\N,45/53,Unknown significance,\N,intron_variant,0.463,\N,\N,COL2A1
286616,12:48371369:C>T,NM_001844.4:c.3165+14G>A,\N,\N,45/53,Unknown significance,\N,intron_variant,5.766,0.000292683,EXAC_AFR_AF,COL2A1
286617,12:48371375:ACACT>A,NM_001844.4:c.3165+4_3165+7del,\N,\N,45/53,Unknown significance,\N,splice_region_variant&intron_variant,15.44,0.0000301932,EXAC_NFE_AF,COL2A1
286618,12:48371382:C>T,NM_001844.4:c.3165+1G>A,\N,\N,45/53,Unknown significance,\N,splice_donor_variant,25.5,0.0000868961,EXAC_AMR_AF,COL2A1
286619,12:48371382:C>A,NM_001844.4:c.3165+1G>T,\N,\N,45/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.6,\N,\N,COL2A1
286620,12:48371388:C>T,NM_001844.4:c.3160G>A,NP_001835.3:p.Val1054Ile,45/54,\N,Unknown significance,\N,missense_variant,19.68,\N,\N,COL2A1
286621,12:48371389:T>C,NM_001844.4:c.3159A>G,NP_001835.3:p.Gly1053=,45/54,\N,Unknown significance,\N,synonymous_variant,2.339,0.0000607165,EXAC_SAS_AF,COL2A1
286622,12:48371390:C>T,NM_001844.4:c.3158G>A,NP_001835.3:p.Gly1053Glu,45/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,24.7,\N,\N,COL2A1
286623,12:48371390:C>A,NM_001844.4:c.3158G>T,NP_001835.3:p.Gly1053Val,45/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,24.8,\N,\N,COL2A1
286624,12:48371397:C>T,NM_001844.4:c.3151G>A,NP_001835.3:p.Ala1051Thr,45/54,\N,Benign,\N,missense_variant,23.3,0.00748979,EVS_AA_AF,COL2A1
286625,12:48371398:G>A,NM_001844.4:c.3150C>T,NP_001835.3:p.Gly1050=,45/54,\N,Unknown significance,\N,synonymous_variant,11.18,0.00018226,EXAC_SAS_AF,COL2A1
286626,12:48371403:C>T,NM_001844.4:c.3145G>A,NP_001835.3:p.Asp1049Asn,45/54,\N,Unknown significance,\N,missense_variant,26.3,0.0000301914,EXAC_NFE_AF,COL2A1
286627,12:48371404:T>A,NM_001844.4:c.3144A>T,NP_001835.3:p.Arg1048Ser,45/54,\N,Unknown significance,\N,missense_variant,24.1,0.00113636,EXAC_OTH_AF,COL2A1
286628,12:48371409:CA>C,NM_001844.4:c.3138del,NP_001835.3:p.Gly1047AlafsTer83,45/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,33,\N,\N,COL2A1
286629,12:48371410:AG>A,NM_001844.4:c.3137del,NP_001835.3:p.Pro1046LeufsTer84,45/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286630,12:48371411:G>C,NM_001844.4:c.3137C>G,NP_001835.3:p.Pro1046Arg,45/54,\N,Unknown significance,\N,missense_variant,24.1,0.0000151158,EXAC_NFE_AF,COL2A1
286631,12:48371412:G>C,NM_033150.2:c.2929C>G,NP_149162.2:p.Pro977Ala,44/53,\N,Unknown significance,\N,missense_variant,20.6,0.000115955,EXAC_EAS_AF,COL2A1
286632,12:48371415:G>C,NM_001844.4:c.3133C>G,NP_001835.3:p.Pro1045Ala,45/54,\N,Unknown significance,\N,missense_variant,14.54,0.0000151217,EXAC_NFE_AF,COL2A1
286633,12:48371416:G>C,NM_001844.4:c.3132C>G,NP_001835.3:p.Gly1044=,45/54,\N,Unknown significance,\N,synonymous_variant,7.59,0.0000872144,EXAC_AMR_AF,COL2A1
286634,12:48371425:A>T,NM_001844.4:c.3123T>A,NP_001835.3:p.Gly1041=,45/54,\N,Unknown significance,\N,synonymous_variant,0.071,0.0000875197,EXAC_AMR_AF,COL2A1
286635,12:48371427:C>T,NM_001844.4:c.3121G>A,NP_001835.3:p.Gly1041Ser,45/54,\N,Pathogenic,Spondyloepimetaphyseal dysplasia| Strudwick,missense_variant,27.5,\N,\N,COL2A1
286636,12:48371428:G>A,NM_001844.4:c.3120C>T,NP_001835.3:p.Pro1040=,45/54,\N,Unknown significance,\N,synonymous_variant,13.49,0.000226963,EVS_AA_AF,COL2A1
286637,12:48371430:G>A,NM_001844.4:c.3118C>T,NP_001835.3:p.Pro1040Ser,45/54,\N,Unknown significance,\N,missense_variant,22.6,0.000015262,EXAC_NFE_AF,COL2A1
286638,12:48371433:T>G,NM_001844.4:c.3115A>C,NP_001835.3:p.Ser1039Arg,45/54,\N,Unknown significance,\N,missense_variant,20.2,0.000123411,EXAC_SAS_AF,COL2A1
286639,12:48371437:C>T,NM_001844.4:c.3112-1G>A,\N,\N,44/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,26.2,\N,\N,COL2A1
286640,12:48371460:C>G,NM_001844.4:c.3112-24G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,2.201,0.0000159887,EXAC_NFE_AF,COL2A1
286641,12:48371460:C>T,NM_001844.4:c.3112-24G>A,\N,\N,44/53,Unknown significance,\N,intron_variant,4.066,0.000370462,EXAC_EAS_AF,COL2A1
286642,12:48371461:A>T,NM_001844.4:c.3112-25T>A,\N,\N,44/53,Unknown significance,\N,intron_variant,0.11,0.001,1KG_EAS_AF,COL2A1
286643,12:48371466:G>A,NM_001844.4:c.3112-30C>T,\N,\N,44/53,Unknown significance,\N,intron_variant,7.637,0.000227066,EVS_AA_AF,COL2A1
286644,12:48371483:T>C,NM_001844.4:c.3112-47A>G,\N,\N,44/53,Unknown significance,\N,intron_variant,3.107,\N,\N,COL2A1
286645,12:48371486:C>G,NM_001844.4:c.3112-50G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,5.98,0.000211193,EXAC_AMR_AF,COL2A1
286646,12:48371487:C>G,NM_001844.4:c.3112-51G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,6.877,0.000284738,EXAC_SAS_AF,COL2A1
286647,12:48371488:C>G,NM_001844.4:c.3112-52G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,0.181,0.000141864,EXAC_SAS_AF,COL2A1
286648,12:48371489:C>G,NM_001844.4:c.3112-53G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,0.073,0.001,1KG_EAS_AF,COL2A1
286649,12:48371515:A>G,NM_001844.4:c.3112-79T>C,\N,\N,44/53,Unknown significance,\N,intron_variant,9.633,0.002,1KG_EAS_AF,COL2A1
286650,12:48371522:GC>G,NM_001844.4:c.3112-87del,\N,\N,44/53,Benign,\N,intron_variant,3.859,0.007,1KG_EUR_AF,COL2A1
286651,12:48371582:C>T,NM_001844.4:c.3112-146G>A,\N,\N,44/53,Benign,\N,intron_variant,3.028,0.0164,1KG_SAS_AF,COL2A1
286652,12:48371582:CCCT>C,NM_001844.4:c.3112-149_3112-147del,\N,\N,44/53,Unknown significance,\N,intron_variant,4.784,\N,\N,COL2A1
286653,12:48371595:G>A,NM_001844.4:c.3112-159C>T,\N,\N,44/53,Benign,\N,intron_variant,2.052,0.4325,1KG_EAS_AF,COL2A1
286654,12:48371605:C>G,NM_001844.4:c.3112-169G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,6.061,0.001,1KG_EUR_AF,COL2A1
286655,12:48371617:G>T,NM_001844.4:c.3111+176C>A,\N,\N,44/53,Unknown significance,\N,intron_variant,4.211,\N,\N,COL2A1
286656,12:48371621:G>A,NM_001844.4:c.3111+172C>T,\N,\N,44/53,Unknown significance,\N,intron_variant,1.85,\N,\N,COL2A1
286657,12:48371625:C>G,NM_001844.4:c.3111+168G>C,\N,\N,44/53,Benign,\N,intron_variant,9.511,0.0106,1KG_AFR_AF,COL2A1
286658,12:48371632:C>A,NM_001844.4:c.3111+161G>T,\N,\N,44/53,Unknown significance,\N,intron_variant,2.692,\N,\N,COL2A1
286659,12:48371648:G>A,NM_001844.4:c.3111+145C>T,\N,\N,44/53,Unknown significance,\N,intron_variant,5.826,0.001,1KG_EAS_AF,COL2A1
286660,12:48371670:C>T,NM_001844.4:c.3111+123G>A,\N,\N,44/53,Benign,\N,intron_variant,1.821,0.0133,1KG_SAS_AF,COL2A1
286661,12:48371674:C>T,NM_001844.4:c.3111+119G>A,\N,\N,44/53,Unknown significance,\N,intron_variant,1.754,\N,\N,COL2A1
286662,12:48371675:G>A,NM_001844.4:c.3111+118C>T,\N,\N,44/53,Unknown significance,\N,intron_variant,1.032,0.0008,1KG_AFR_AF,COL2A1
286663,12:48371679:C>T,NM_001844.4:c.3111+114G>A,\N,\N,44/53,Benign,\N,intron_variant,4.416,0.1059,1KG_AFR_AF,COL2A1
286664,12:48371701:C>G,NM_001844.4:c.3111+92G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,3.72,\N,\N,COL2A1
286665,12:48371720:T>G,NM_001844.4:c.3111+73A>C,\N,\N,44/53,Benign,\N,intron_variant,6.272,0.1059,1KG_AFR_AF,COL2A1
286666,12:48371725:A>G,NM_001844.4:c.3111+68T>C,\N,\N,44/53,Unknown significance,\N,intron_variant,6.959,0.0014,1KG_AMR_AF,COL2A1
286667,12:48371748:C>A,NM_001844.4:c.3111+45G>T,\N,\N,44/53,Unknown significance,\N,intron_variant,16.74,0.000216638,EXAC_SAS_AF,COL2A1
286668,12:48371749:C>A,NM_001844.4:c.3111+44G>T,\N,\N,44/53,Unknown significance,\N,intron_variant,14.74,0.0000195313,EXAC_NFE_AF,COL2A1
286669,12:48371749:C>T,NM_001844.4:c.3111+44G>A,\N,\N,44/53,Unknown significance,\N,intron_variant,14.68,0.000698714,EXAC_EAS_AF,COL2A1
286670,12:48371751:C>T,NM_001844.4:c.3111+42G>A,\N,\N,44/53,Unknown significance,\N,intron_variant,15.93,0.000038956,EXAC_NFE_AF,COL2A1
286671,12:48371758:C>G,NM_001844.4:c.3111+35G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,1.995,0.0008,1KG_AFR_AF,COL2A1
286672,12:48371760:A>G,NM_001844.4:c.3111+33T>C,\N,\N,44/53,Unknown significance,\N,intron_variant,3.867,0.0008,1KG_AFR_AF,COL2A1
286673,12:48371762:C>T,NM_001844.4:c.3111+31G>A,\N,\N,44/53,Unknown significance,\N,intron_variant,4.051,0.000116414,EVS_EA_AF,COL2A1
286674,12:48371765:G>T,NM_001844.4:c.3111+28C>A,\N,\N,44/53,Unknown significance,\N,intron_variant,0.642,0.0000186407,EXAC_NFE_AF,COL2A1
286675,12:48371767:C>T,NM_001844.4:c.3111+26G>A,\N,\N,44/53,Benign,\N,intron_variant,3.76,0.1059,1KG_AFR_AF,COL2A1
286676,12:48371770:C>T,NM_001844.4:c.3111+23G>A,\N,\N,44/53,Unknown significance,\N,intron_variant,5.792,\N,\N,COL2A1
286677,12:48371771:C>G,NM_001844.4:c.3111+22G>C,\N,\N,44/53,Unknown significance,\N,intron_variant,3.191,0.0000983284,EXAC_AMR_AF,COL2A1
286678,12:48371774:AG>A,NM_001844.4:c.3111+18del,\N,\N,44/53,Unknown significance,\N,intron_variant,5.254,0.0000679256,EXAC_SAS_AF,COL2A1
286679,12:48371775:G>A,NM_001844.4:c.3111+18C>T,\N,\N,44/53,Unknown significance,\N,intron_variant,7.249,0.00012279,EXAC_EAS_AF,COL2A1
286680,12:48371776:G>A,NM_001844.4:c.3111+17C>T,\N,\N,44/53,Unknown significance,\N,intron_variant,8.485,0.000116279,EVS_EA_AF,COL2A1
286681,12:48371780:T>A,NM_001844.4:c.3111+13A>T,\N,\N,44/53,Unknown significance,\N,intron_variant,16.1,0.000199045,EXAC_SAS_AF,COL2A1
286682,12:48371792:C>A,NM_001844.4:c.3111+1G>T,\N,\N,44/53,Pathogenic,Stickler syndrome,splice_donor_variant,28.3,\N,\N,COL2A1
286683,12:48371797:C>T,NM_001844.4:c.3107G>A,NP_001835.3:p.Arg1036Gln,44/54,\N,Unknown significance,\N,missense_variant,25.5,0.003,1KG_EAS_AF,COL2A1
286684,12:48371798:G>A,NM_001844.4:c.3106C>T,NP_001835.3:p.Arg1036Ter,44/54,\N,Pathogenic,Stickler syndrome,stop_gained,43,0.0000157594,EXAC_NFE_AF,COL2A1
286685,12:48371798:G>C,NM_001844.4:c.3106C>G,NP_001835.3:p.Arg1036Gly,44/54,\N,Unknown significance,\N,missense_variant,23.7,0.00119048,EXAC_OTH_AF,COL2A1
286686,12:48371802:A>G,NM_001844.4:c.3102T>C,NP_001835.3:p.Pro1034=,44/54,\N,Benign,\N,synonymous_variant,7.816,0.0151,1KG_AFR_AF,COL2A1
286687,12:48371804:G>A,NM_001844.4:c.3100C>T,NP_001835.3:p.Pro1034Ser,44/54,\N,Unknown significance,\N,missense_variant,22.8,\N,\N,COL2A1
286688,12:48371817:ACCCGTC>CCAGG,NM_001844.4:c.3081_3087delinsCCTGG,NP_001835.3:p.Thr1028LeufsTer5,44/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,\N,\N,\N,COL2A1
286689,12:48371820:C>A,NM_001844.4:c.3084G>T,NP_001835.3:p.Thr1028=,44/54,\N,Unknown significance,\N,synonymous_variant,13.99,0.000226963,EVS_AA_AF,COL2A1
286690,12:48371821:G>A,NM_001844.4:c.3083C>T,NP_001835.3:p.Thr1028Met,44/54,\N,Unknown significance,\N,missense_variant,24,0.0000154669,EXAC_NFE_AF,COL2A1
286691,12:48371824:AGGCCAGGAGGACCCACGG>A,NM_001844.4:c.3062_3079del,NP_001835.3:p.Pro1021_Gly1026del,44/54,\N,Pathogenic,Hypochondrogenesis,inframe_deletion,21.7,\N,\N,COL2A1
286692,12:48371825:G>A,NM_001844.4:c.3079C>T,NP_001835.3:p.Leu1027=,44/54,\N,Unknown significance,\N,synonymous_variant,9.829,0.0000879044,EXAC_AMR_AF,COL2A1
286693,12:48371840:C>A,NM_001844.4:c.3064G>T,NP_001835.3:p.Val1022Leu,44/54,\N,Unknown significance,\N,missense_variant,24.4,0.0000620964,EXAC_SAS_AF,COL2A1
286694,12:48371840:C>T,NM_001844.4:c.3064G>A,NP_001835.3:p.Val1022Met,44/54,\N,Unknown significance,\N,missense_variant,23.7,0.0014,1KG_AMR_AF,COL2A1
286695,12:48371841:G>A,NM_001844.4:c.3063C>T,NP_001835.3:p.Pro1021=,44/54,\N,Unknown significance,\N,synonymous_variant,15.4,0.000116496,EXAC_EAS_AF,COL2A1
286696,12:48371844:G>A,NM_001844.4:c.3060C>T,NP_001835.3:p.Gly1020=,44/54,\N,Unknown significance,\N,synonymous_variant,12.78,0.000124347,EXAC_SAS_AF,COL2A1
286697,12:48371845:CCAG>C,NM_001844.4:c.3056_3058del,NP_001835.3:p.Pro1019_Gly1020delinsArg,44/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,inframe_deletion,22.9,\N,\N,COL2A1
286698,12:48371847:A>C,NM_001844.4:c.3057T>G,NP_001835.3:p.Pro1019=,44/54,\N,Unknown significance,\N,synonymous_variant,3.674,0.0000309186,EXAC_NFE_AF,COL2A1
286699,12:48371854:C>A,NM_001844.4:c.3050G>T,NP_001835.3:p.Gly1017Val,44/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,26.5,\N,\N,COL2A1
286700,12:48371857:C>T,NM_001844.4:c.3047G>A,NP_001835.3:p.Arg1016Lys,44/54,\N,Unknown significance,\N,missense_variant,23.6,0.000248896,EXAC_NFE_AF,COL2A1
286701,12:48371862:T>G,NM_001844.4:c.3042A>C,NP_001835.3:p.Gly1014=,44/54,\N,Unknown significance,\N,synonymous_variant,8.172,0.000187126,EXAC_FIN_AF,COL2A1
286702,12:48371866:G>C,NM_001844.4:c.3038C>G,NP_001835.3:p.Ser1013Cys,44/54,\N,Unknown significance,\N,missense_variant,24.2,\N,\N,COL2A1
286703,12:48371880:AC>A,NM_001844.4:c.3023del,NP_001835.3:p.Gly1008ValfsTer20,44/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286704,12:48371881:C>T,NM_001844.4:c.3023G>A,NP_001835.3:p.Gly1008Asp,44/54,\N,Unknown significance,\N,missense_variant,25.9,0.0000163822,EXAC_NFE_AF,COL2A1
286705,12:48371891:C>T,NM_001844.4:c.3013G>A,NP_001835.3:p.Gly1005Ser,44/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,28.9,\N,\N,COL2A1
286706,12:48371892:G>A,NM_001844.4:c.3012C>T,NP_001835.3:p.Pro1004=,44/54,\N,Unknown significance,\N,synonymous_variant,14.85,0.001,1KG_EAS_AF,COL2A1
286707,12:48371896:T>C,NM_001844.4:c.3008A>G,NP_001835.3:p.Glu1003Gly,44/54,\N,Unknown significance,\N,missense_variant,24.8,0.000115367,EXAC_AFR_AF,COL2A1
286708,12:48371897:C>T,NM_001844.4:c.3007G>A,NP_001835.3:p.Glu1003Lys,44/54,\N,Unknown significance,\N,missense_variant,24.5,0.000348918,EVS_EA_AF,COL2A1
286709,12:48371929:TGCAAGTGGTAA>T,NM_001844.4:c.3004-40_3004-30del,\N,\N,43/53,Unknown significance,\N,intron_variant,7.424,\N,\N,COL2A1
286710,12:48371930:G>A,NM_001844.4:c.3004-30C>T,\N,\N,43/53,Unknown significance,\N,intron_variant,5.808,0.00173837,EXAC_SAS_AF,COL2A1
286711,12:48371944:C>A,NM_001844.4:c.3004-44G>T,\N,\N,43/53,Unknown significance,\N,intron_variant,5.132,0.000545108,EXAC_AFR_AF,COL2A1
286712,12:48371960:A>G,NM_001844.4:c.3004-60T>C,\N,\N,43/53,Unknown significance,\N,intron_variant,12.43,0.0008,1KG_AFR_AF,COL2A1
286713,12:48372021:G>C,NM_001844.4:c.3003+53C>G,\N,\N,43/53,Unknown significance,\N,intron_variant,1.215,\N,\N,COL2A1
286714,12:48372027:G>A,NM_001844.4:c.3003+47C>T,\N,\N,43/53,Unknown significance,\N,intron_variant,5.133,0.001,1KG_EAS_AF,COL2A1
286715,12:48372032:C>T,NM_001844.4:c.3003+42G>A,\N,\N,43/53,Unknown significance,\N,intron_variant,6.767,\N,\N,COL2A1
286716,12:48372033:A>G,NM_001844.4:c.3003+41T>C,\N,\N,43/53,Unknown significance,\N,intron_variant,4.051,0.0000162096,EXAC_NFE_AF,COL2A1
286717,12:48372036:G>A,NM_001844.4:c.3003+38C>T,\N,\N,43/53,Unknown significance,\N,intron_variant,7.869,0.000258198,EXAC_SAS_AF,COL2A1
286718,12:48372047:A>G,NM_001844.4:c.3003+27T>C,\N,\N,43/53,Unknown significance,\N,intron_variant,5.441,0.001,1KG_EUR_AF,COL2A1
286719,12:48372048:T>G,NM_001844.4:c.3003+26A>C,\N,\N,43/53,Unknown significance,\N,intron_variant,8.575,0.0000913409,EXAC_AMR_AF,COL2A1
286720,12:48372050:G>C,NM_001844.4:c.3003+24C>G,\N,\N,43/53,Unknown significance,\N,intron_variant,8.407,0.000226963,EVS_AA_AF,COL2A1
286721,12:48372052:G>C,NM_001844.4:c.3003+22C>G,\N,\N,43/53,Benign,\N,intron_variant,9.085,0.0197,1KG_AFR_AF,COL2A1
286722,12:48372054:G>A,NM_001844.4:c.3003+20C>T,\N,\N,43/53,Benign,\N,intron_variant,9.991,0.0072,1KG_SAS_AF,COL2A1
286723,12:48372060:T>C,NM_001844.4:c.3003+14A>G,\N,\N,43/53,Unknown significance,\N,intron_variant,7.024,0.0000157085,EXAC_NFE_AF,COL2A1
286724,12:48372062:C>T,NM_001844.4:c.3003+12G>A,\N,\N,43/53,Unknown significance,\N,intron_variant,7.945,0.000101276,EXAC_AFR_AF,COL2A1
286725,12:48372065:C>T,NM_001844.4:c.3003+9G>A,\N,\N,43/53,Benign,\N,intron_variant,9.799,0.00644382,EXAC_AFR_AF,COL2A1
286726,12:48372067:C>A,NM_001844.4:c.3003+7G>T,\N,\N,43/53,Unknown significance,\N,splice_region_variant&intron_variant,13.13,0.000118315,EXAC_EAS_AF,COL2A1
286727,12:48372069:C>T,NM_001844.4:c.3003+5G>A,\N,\N,43/53,Pathogenic,Stickler syndrome,splice_region_variant&intron_variant,15.25,\N,\N,COL2A1
286728,12:48372073:C>A,NM_001844.4:c.3003+1G>T,\N,\N,43/53,Pathogenic,Stickler syndrome,splice_donor_variant,24.9,\N,\N,COL2A1
286729,12:48372073:C>T,NM_001844.4:c.3003+1G>A,\N,\N,43/53,Pathogenic,Stickler syndrome,splice_donor_variant,24.9,\N,\N,COL2A1
286730,12:48372075:G>A,NM_001844.4:c.3002C>T,NP_001835.3:p.Ser1001Leu,43/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.2,0.0000995619,EXAC_AFR_AF,COL2A1
286731,12:48372077:C>T,NM_001844.4:c.3000G>A,NP_001835.3:p.Pro1000=,43/54,\N,Benign,\N,synonymous_variant,14.7,0.0998,1KG_AFR_AF,COL2A1
286732,12:48372077:CG>C,NM_001844.4:c.2999del,NP_001835.3:p.Pro1000ArgfsTer28,43/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286733,12:48372078:G>A,NM_001844.4:c.2999C>T,NP_001835.3:p.Pro1000Leu,43/54,\N,Unknown significance,\N,missense_variant,23.2,0.000226963,EVS_AA_AF,COL2A1
286734,12:48372080:G>A,NM_001844.4:c.2997C>T,NP_001835.3:p.Gly999=,43/54,\N,Unknown significance,\N,synonymous_variant,6.948,0.000583294,EXAC_EAS_AF,COL2A1
286735,12:48372080:G>C,NM_001844.4:c.2997C>G,NP_001835.3:p.Gly999=,43/54,\N,Unknown significance,\N,synonymous_variant,2.555,0.000226963,EVS_AA_AF,COL2A1
286736,12:48372084:G>A,NM_001844.4:c.2993C>T,NP_001835.3:p.Pro998Leu,43/54,\N,Unknown significance,\N,missense_variant,23.9,0.0000873973,EXAC_AMR_AF,COL2A1
286737,12:48372085:G>T,NM_001844.4:c.2992C>A,NP_001835.3:p.Pro998Thr,43/54,\N,Unknown significance,\N,missense_variant,23.1,0.0000152723,EXAC_NFE_AF,COL2A1
286738,12:48372095:G>A,NM_001844.4:c.2982C>T,NP_001835.3:p.Phe994=,43/54,\N,Unknown significance,\N,synonymous_variant,8.761,0.000122324,EXAC_SAS_AF,COL2A1
286739,12:48372099:CCT>C,NM_001844.4:c.2976_2977del,NP_001835.3:p.Gly993IlefsTer10,43/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286740,12:48372103:T>C,NM_001844.4:c.2974A>G,NP_001835.3:p.Arg992Gly,43/54,\N,Pathogenic,Spondyloepimetaphyseal dysplasia congenita,missense_variant,23.2,\N,\N,COL2A1
286741,12:48372111:C>T,NM_001844.4:c.2966G>A,NP_001835.3:p.Arg989His,43/54,\N,Unknown significance,\N,missense_variant,29.3,0.000116063,EXAC_EAS_AF,COL2A1
286742,12:48372112:G>A,NM_001844.4:c.2965C>T,NP_001835.3:p.Arg989Cys,43/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,29,\N,\N,COL2A1
286743,12:48372116:C>T,NM_001844.4:c.2961G>A,NP_001835.3:p.Gly987=,43/54,\N,Unknown significance,\N,synonymous_variant,15,0.0008,1KG_AFR_AF,COL2A1
286744,12:48372120:G>A,NM_001844.4:c.2957C>T,NP_001835.3:p.Pro986Leu,43/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.3,\N,\N,COL2A1
286745,12:48372122:C>T,NM_001844.4:c.2955G>A,NP_001835.3:p.Leu985=,43/54,\N,Unknown significance,\N,synonymous_variant,14.37,0.0000151327,EXAC_NFE_AF,COL2A1
286746,12:48372126:CCGA>C,NM_001844.4:c.2948_2950del,NP_001835.3:p.Val983del,43/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,inframe_deletion,21.7,\N,\N,COL2A1
286747,12:48372128:G>A,NM_001844.4:c.2949C>T,NP_001835.3:p.Val983=,43/54,\N,Unknown significance,\N,synonymous_variant,12.99,0.001,1KG_EUR_AF,COL2A1
286748,12:48372130:C>T,NM_001844.4:c.2947G>A,NP_001835.3:p.Val983Ile,43/54,\N,Unknown significance,\N,missense_variant,24.1,0.000173822,EXAC_AMR_AF,COL2A1
286749,12:48372131:G>A,NM_001844.4:c.2946C>T,NP_001835.3:p.Ile982=,43/54,\N,Unknown significance,\N,synonymous_variant,15.89,0.001,1KG_SAS_AF,COL2A1
286750,12:48372134:G>A,NM_001844.4:c.2943C>T,NP_001835.3:p.Gly981=,43/54,\N,Unknown significance,\N,synonymous_variant,11.39,0.002,1KG_EAS_AF,COL2A1
286751,12:48372136:C>T,NM_001844.4:c.2941G>A,NP_001835.3:p.Gly981Ser,43/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,25.8,\N,\N,COL2A1
286752,12:48372156:T>C,NM_001844.4:c.2921A>G,NP_001835.3:p.Gln974Arg,43/54,\N,Unknown significance,\N,missense_variant,16.04,0.000116659,EXAC_EAS_AF,COL2A1
286753,12:48372168:G>A,NM_001844.4:c.2909C>T,NP_001835.3:p.Pro970Leu,43/54,\N,Unknown significance,\N,missense_variant,23.3,0.000116279,EVS_EA_AF,COL2A1
286754,12:48372172:C>T,NM_001844.4:c.2905G>A,NP_001835.3:p.Gly969Ser,43/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,25.1,\N,\N,COL2A1
286755,12:48372175:C>T,NM_001844.4:c.2902G>A,NP_001835.3:p.Glu968Lys,43/54,\N,Likely benign,\N,missense_variant,23.5,0.000226963,EVS_AA_AF,COL2A1
286756,12:48372176:G>A,NM_001844.4:c.2901C>T,NP_001835.3:p.Ala967=,43/54,\N,Unknown significance,\N,synonymous_variant,10.63,0.000510308,EXAC_AFR_AF,COL2A1
286757,12:48372176:G>T,NM_001844.4:c.2901C>A,NP_001835.3:p.Ala967=,43/54,\N,Unknown significance,\N,synonymous_variant,8.718,0.0000157257,EXAC_NFE_AF,COL2A1
286758,12:48372182:C>T,NM_001844.4:c.2896-1G>A,\N,\N,42/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,25,\N,\N,COL2A1
286759,12:48372184:G>A,NM_001844.4:c.2896-3C>T,\N,\N,42/53,Unknown significance,\N,splice_region_variant&intron_variant,7.44,0.0000935104,EXAC_AMR_AF,COL2A1
286760,12:48372191:G>T,NM_001844.4:c.2896-10C>A,\N,\N,42/53,Unknown significance,\N,intron_variant,10.07,0.0000165837,EXAC_NFE_AF,COL2A1
286761,12:48372204:T>A,NM_001844.4:c.2896-23A>T,\N,\N,42/53,Unknown significance,\N,intron_variant,7.986,0.000135318,EXAC_EAS_AF,COL2A1
286762,12:48372210:C>T,NM_001844.4:c.2896-29G>A,\N,\N,42/53,Unknown significance,\N,intron_variant,4.881,0.0008,1KG_AFR_AF,COL2A1
286763,12:48372219:G>A,NM_001844.4:c.2896-38C>T,\N,\N,42/53,Unknown significance,\N,intron_variant,3.619,\N,\N,COL2A1
286764,12:48372220:C>T,NM_001844.4:c.2896-39G>A,\N,\N,42/53,Unknown significance,\N,intron_variant,5.162,0.0000696282,EXAC_SAS_AF,COL2A1
286765,12:48372233:G>A,NM_001844.4:c.2896-52C>T,\N,\N,42/53,Unknown significance,\N,intron_variant,2.342,0.00075358,EVS_AA_AF,COL2A1
286766,12:48372248:CTCTG>C,NM_001844.4:c.2896-71_2896-68del,\N,\N,42/53,Unknown significance,\N,intron_variant,4.944,\N,\N,COL2A1
286767,12:48372259:C>T,NM_001844.4:c.2896-78G>A,\N,\N,42/53,Unknown significance,\N,intron_variant,3.419,0.0008,1KG_AFR_AF,COL2A1
286768,12:48372264:C>T,NM_001844.4:c.2896-83G>A,\N,\N,42/53,Unknown significance,\N,intron_variant,6.622,\N,\N,COL2A1
286769,12:48372270:C>T,NM_001844.4:c.2896-89G>A,\N,\N,42/53,Unknown significance,\N,intron_variant,8.62,\N,\N,COL2A1
286770,12:48372283:C>T,NM_001844.4:c.2895+97G>A,\N,\N,42/53,Benign,\N,intron_variant,1.142,0.0219,1KG_AFR_AF,COL2A1
286771,12:48372294:C>T,NM_001844.4:c.2895+86G>A,\N,\N,42/53,Unknown significance,\N,intron_variant,7.109,0.001,1KG_EAS_AF,COL2A1
286772,12:48372333:C>A,NM_001844.4:c.2895+47G>T,\N,\N,42/53,Unknown significance,\N,intron_variant,3.211,\N,\N,COL2A1
286773,12:48372333:C>T,NM_001844.4:c.2895+47G>A,\N,\N,42/53,Benign,\N,intron_variant,3.363,0.025,1KG_AFR_AF,COL2A1
286774,12:48372334:G>A,NM_001844.4:c.2895+46C>T,\N,\N,42/53,Unknown significance,\N,intron_variant,1.71,0.0008,1KG_AFR_AF,COL2A1
286775,12:48372335:A>T,NM_001844.4:c.2895+45T>A,\N,\N,42/53,Unknown significance,\N,intron_variant,4.004,0.001,1KG_EAS_AF,COL2A1
286776,12:48372340:G>C,NM_001844.4:c.2895+40C>G,\N,\N,42/53,Unknown significance,\N,intron_variant,1.294,0.000118231,EXAC_EAS_AF,COL2A1
286777,12:48372346:A>AG,NM_001844.4:c.2895+33dup,\N,\N,42/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286778,12:48372355:G>A,NM_001844.4:c.2895+25C>T,\N,\N,42/53,Unknown significance,\N,intron_variant,4.884,0.0014,1KG_AMR_AF,COL2A1
286779,12:48372366:G>A,NM_001844.4:c.2895+14C>T,\N,\N,42/53,Unknown significance,\N,intron_variant,8.136,\N,\N,COL2A1
286780,12:48372370:A>G,NM_001844.4:c.2895+10T>C,\N,\N,42/53,Unknown significance,\N,intron_variant,7.156,0.000264457,EXAC_AMR_AF,COL2A1
286781,12:48372380:A>G,NM_001844.4:c.2895T>C,NP_001835.3:p.Ser965=,42/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.83,0.000116279,EVS_EA_AF,COL2A1
286782,12:48372383:G>A,NM_001844.4:c.2892C>T,NP_001835.3:p.Pro964=,42/54,\N,Unknown significance,\N,synonymous_variant,9.847,0.000183554,EXAC_SAS_AF,COL2A1
286783,12:48372383:G>T,NM_001844.4:c.2892C>A,NP_001835.3:p.Pro964=,42/54,\N,Unknown significance,\N,synonymous_variant,8.56,0.000122369,EXAC_SAS_AF,COL2A1
286784,12:48372384:G>A,NM_001844.4:c.2891C>T,NP_001835.3:p.Pro964Leu,42/54,\N,Unknown significance,\N,missense_variant,22.8,0.0000154402,EXAC_NFE_AF,COL2A1
286785,12:48372389:G>A,NM_001844.4:c.2886C>T,NP_001835.3:p.Asp962=,42/54,\N,Unknown significance,\N,synonymous_variant,8.878,0.0008,1KG_AFR_AF,COL2A1
286786,12:48372399:G>C,NM_001844.4:c.2876C>G,NP_001835.3:p.Pro959Arg,42/54,\N,Unknown significance,\N,missense_variant,22.7,\N,\N,COL2A1
286787,12:48372406:C>A,NM_001844.4:c.2869G>T,NP_001835.3:p.Gly957Ter,42/54,\N,Pathogenic,Stickler syndrome,stop_gained,41,\N,\N,COL2A1
286788,12:48372413:G>T,NM_001844.4:c.2862C>A,NP_001835.3:p.Gly954=,42/54,\N,Unknown significance,\N,synonymous_variant,11.12,0.000116279,EVS_EA_AF,COL2A1
286789,12:48372413:G>A,NM_001844.4:c.2862C>T,NP_001835.3:p.Gly954=,42/54,\N,Pathogenic,Stickler syndrome,synonymous_variant,13.35,\N,\N,COL2A1
286790,12:48372421:G>T,NM_001844.4:c.2854C>A,NP_001835.3:p.Pro952Thr,42/54,\N,Benign,\N,missense_variant,0.651,0.00955488,EXAC_EAS_AF,COL2A1
286791,12:48372427:C>A,NM_001844.4:c.2848G>T,NP_001835.3:p.Ala950Ser,42/54,\N,Unknown significance,\N,missense_variant,20.9,0.000121492,EXAC_SAS_AF,COL2A1
286792,12:48372430:G>A,NM_001844.4:c.2845C>T,NP_001835.3:p.Pro949Ser,42/54,\N,Unknown significance,\N,missense_variant,14.99,0.000226963,EVS_AA_AF,COL2A1
286793,12:48372432:C>T,NM_001844.4:c.2843G>A,NP_001835.3:p.Gly948Asp,42/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,24.5,\N,\N,COL2A1
286794,12:48372434:T>G,NM_001844.4:c.2841A>C,NP_001835.3:p.Gln947His,42/54,\N,Unknown significance,\N,missense_variant,15.52,0.000261597,EXAC_AMR_AF,COL2A1
286795,12:48372436:G>A,NM_001844.4:c.2839C>T,NP_001835.3:p.Gln947Ter,42/54,\N,Pathogenic,Stickler syndrome,stop_gained,40,\N,\N,COL2A1
286796,12:48372442:C>T,NM_001844.4:c.2833G>A,NP_001835.3:p.Gly945Ser,42/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.7,\N,\N,COL2A1
286797,12:48372443:G>A,NM_001844.4:c.2832C>T,NP_001835.3:p.Pro944=,42/54,\N,Unknown significance,\N,synonymous_variant,10.05,0.000453926,EVS_AA_AF,COL2A1
286798,12:48372444:G>A,NM_001844.4:c.2831C>T,NP_001835.3:p.Pro944Leu,42/54,\N,Benign,\N,missense_variant,15.06,0.0053,1KG_AFR_AF,COL2A1
286799,12:48372444:G>T,NM_001844.4:c.2831C>A,NP_001835.3:p.Pro944His,42/54,\N,Unknown significance,\N,missense_variant,14.49,0.000116632,EXAC_EAS_AF,COL2A1
286800,12:48372456:C>T,NM_001844.4:c.2819G>A,NP_001835.3:p.Arg940Gln,42/54,\N,Unknown significance,\N,missense_variant,24.6,0.002,1KG_EUR_AF,COL2A1
286801,12:48372460:CA>C,NM_001844.4:c.2814del,NP_001835.3:p.Gly939AlafsTer89,42/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,23.5,\N,\N,COL2A1
286802,12:48372461:A>AG,NM_001844.4:c.2813dup,NP_001835.3:p.Gly939TrpfsTer5,42/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,31,\N,\N,COL2A1
286803,12:48372461:AG>A,NM_001844.4:c.2813del,NP_001835.3:p.Pro938LeufsTer90,42/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,29.7,\N,\N,COL2A1
286804,12:48372463:G>A,NM_001844.4:c.2812C>T,NP_001835.3:p.Pro938Ser,42/54,\N,Likely benign,\N,missense_variant,10.22,0.001,1KG_EUR_AF,COL2A1
286805,12:48372468:C>T,NM_001844.4:c.2807G>A,NP_001835.3:p.Gly936Asp,42/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,23.8,\N,\N,COL2A1
286806,12:48372469:C>T,NM_001844.4:c.2806G>A,NP_001835.3:p.Gly936Ser,42/54,\N,Unknown significance,\N,missense_variant,25.2,0.0000155647,EXAC_NFE_AF,COL2A1
286807,12:48372480:C>T,NM_001844.4:c.2795G>A,NP_001835.3:p.Arg932Gln,42/54,\N,Unknown significance,\N,missense_variant,26,0.001,1KG_EAS_AF,COL2A1
286808,12:48372481:G>A,NM_001844.4:c.2794C>T,NP_001835.3:p.Arg932Ter,42/54,\N,Pathogenic,Stickler syndrome,stop_gained,44,\N,\N,COL2A1
286809,12:48372485:AC>A,NM_001844.4:c.2789del,NP_001835.3:p.Gly930ValfsTer98,42/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286810,12:48372487:CT>C,NM_001844.4:c.2787del,NP_001835.3:p.Gly930ValfsTer98,42/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286811,12:48372493:G>A,NM_001844.4:c.2782C>T,NP_001835.3:p.Pro928Ser,42/54,\N,Unknown significance,\N,missense_variant,23.2,\N,\N,COL2A1
286812,12:48372494:A>G,NM_001844.4:c.2781T>C,NP_001835.3:p.Gly927=,42/54,\N,Unknown significance,\N,synonymous_variant,10.56,0.000522466,EXAC_AMR_AF,COL2A1
286813,12:48372497:A>G,NM_001844.4:c.2778T>C,NP_001835.3:p.Asp926=,42/54,\N,Unknown significance,\N,synonymous_variant,8.683,0.0000157361,EXAC_NFE_AF,COL2A1
286814,12:48372511:G>A,NM_001844.4:c.2764C>T,NP_001835.3:p.Pro922Ser,42/54,\N,Unknown significance,\N,missense_variant,21.8,0.000031739,EXAC_NFE_AF,COL2A1
286815,12:48372514:CA>C,NM_001844.4:c.2760del,NP_001835.3:p.Gly921ValfsTer107,42/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,0.0000873362,EXAC_AMR_AF,COL2A1
286816,12:48372514:C>G,NM_001844.4:c.2761G>C,NP_001835.3:p.Gly921Arg,42/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.9,\N,\N,COL2A1
286817,12:48372515:A>G,NM_001844.4:c.2760T>C,NP_001835.3:p.Pro920=,42/54,\N,Unknown significance,\N,synonymous_variant,8.032,0.000015871,EXAC_NFE_AF,COL2A1
286818,12:48372517:G>A,NM_001844.4:c.2758C>T,NP_001835.3:p.Pro920Ser,42/54,\N,Unknown significance,\N,missense_variant,20.6,0.0000158685,EXAC_NFE_AF,COL2A1
286819,12:48372519:G>A,NM_033150.2:c.2549C>T,NP_149162.2:p.Pro850Leu,41/53,\N,Unknown significance,\N,missense_variant,25.5,0.000351453,EXAC_EAS_AF,COL2A1
286820,12:48372523:C>A,NM_001844.4:c.2752G>T,NP_001835.3:p.Gly918Cys,42/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,27.9,\N,\N,COL2A1
286821,12:48372523:CA>C,NM_001844.4:c.2751del,NP_001835.3:p.Gly918ValfsTer110,42/54,\N,Pathogenic,Arthroophthalmopathy,frameshift_variant,33,\N,\N,COL2A1
286822,12:48372524:A>AG,NM_001844.4:c.2750dup,NP_001835.3:p.Gly918TrpfsTer26,42/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286823,12:48372525:G>A,NM_001844.4:c.2750C>T,NP_001835.3:p.Pro917Leu,42/54,\N,Unknown significance,\N,missense_variant,25.9,0.001,1KG_SAS_AF,COL2A1
286824,12:48372529:G>T,NM_001844.4:c.2746C>A,NP_001835.3:p.Pro916Thr,42/54,\N,Unknown significance,\N,missense_variant,23.8,0.000110619,EXAC_AFR_AF,COL2A1
286825,12:48372533:A>G,NM_001844.4:c.2742T>C,NP_001835.3:p.Pro914=,42/54,\N,Unknown significance,\N,synonymous_variant,7.176,0.000118315,EVS_EA_AF,COL2A1
286826,12:48372542:C>A,NM_001844.4:c.2734-1G>T,\N,\N,41/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,27.3,\N,\N,COL2A1
286827,12:48372551:G>A,NM_001844.4:c.2734-10C>T,\N,\N,41/53,Unknown significance,\N,intron_variant,9.806,0.000339559,EXAC_FIN_AF,COL2A1
286828,12:48372551:G>T,NM_001844.4:c.2734-10C>A,\N,\N,41/53,Unknown significance,\N,intron_variant,8.11,0.0000161072,EXAC_NFE_AF,COL2A1
286829,12:48372554:A>T,NM_001844.4:c.2734-13T>A,\N,\N,41/53,Unknown significance,\N,intron_variant,9.953,0.001,1KG_EAS_AF,COL2A1
286830,12:48372558:C>T,NM_001844.4:c.2734-17G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,8.186,0.000118483,EVS_EA_AF,COL2A1
286831,12:48372558:CG>C,NM_001844.4:c.2734-18del,\N,\N,41/53,Unknown significance,\N,intron_variant,6.282,0.0000616523,EXAC_SAS_AF,COL2A1
286832,12:48372558:C>A,NM_001844.4:c.2734-17G>T,\N,\N,41/53,Unknown significance,\N,intron_variant,8.076,0.0002292,EXAC_AFR_AF,COL2A1
286833,12:48372559:G>A,NM_001844.4:c.2734-18C>T,\N,\N,41/53,Unknown significance,\N,intron_variant,6.075,0.0000808774,EXAC_NFE_AF,COL2A1
286834,12:48372559:G>T,NM_001844.4:c.2734-18C>A,\N,\N,41/53,Unknown significance,\N,intron_variant,4.508,\N,\N,COL2A1
286835,12:48372567:A>G,NM_001844.4:c.2734-26T>C,\N,\N,41/53,Unknown significance,\N,intron_variant,9.4,0.0000162248,EXAC_NFE_AF,COL2A1
286836,12:48372569:G>T,NM_001844.4:c.2734-28C>A,\N,\N,41/53,Unknown significance,\N,intron_variant,4.01,0.00023872,EXAC_AFR_AF,COL2A1
286837,12:48372573:C>T,NM_001844.4:c.2734-32G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,7.423,0.000175377,EXAC_FIN_AF,COL2A1
286838,12:48372582:C>G,NM_001844.4:c.2734-41G>C,\N,\N,41/53,Unknown significance,\N,intron_variant,3.623,0.000149656,EXAC_AFR_AF,COL2A1
286839,12:48372582:C>T,NM_001844.4:c.2734-41G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,4.524,0.0000920132,EXAC_AMR_AF,COL2A1
286840,12:48372583:TTCC>T,NM_001844.4:c.2734-45_2734-43del,\N,\N,41/53,Benign,\N,intron_variant,5.928,0.3366,1KG_AFR_AF,COL2A1
286841,12:48372586:C>A,NM_001844.4:c.2734-45G>T,\N,\N,41/53,Unknown significance,\N,intron_variant,6.034,\N,\N,COL2A1
286842,12:48372591:C>A,NM_001844.4:c.2734-50G>T,\N,\N,41/53,Unknown significance,\N,intron_variant,5.317,0.0000167409,EXAC_NFE_AF,COL2A1
286843,12:48372611:T>G,NM_001844.4:c.2734-70A>C,\N,\N,41/53,Unknown significance,\N,intron_variant,4.201,0.0014,1KG_AMR_AF,COL2A1
286844,12:48372636:T>C,NM_001844.4:c.2734-95A>G,\N,\N,41/53,Unknown significance,\N,intron_variant,5.109,\N,\N,COL2A1
286845,12:48372640:G>A,NM_001844.4:c.2734-99C>T,\N,\N,41/53,Benign,\N,intron_variant,12.67,0.0711,1KG_AFR_AF,COL2A1
286846,12:48372641:G>C,NM_001844.4:c.2734-100C>G,\N,\N,41/53,Unknown significance,\N,intron_variant,10.8,\N,\N,COL2A1
286847,12:48372671:G>C,NM_001844.4:c.2734-130C>G,\N,\N,41/53,Unknown significance,\N,intron_variant,0.079,\N,\N,COL2A1
286848,12:48372686:C>G,NM_001844.4:c.2734-145G>C,\N,\N,41/53,Unknown significance,\N,intron_variant,0.232,0.0043,1KG_AMR_AF,COL2A1
286849,12:48372701:C>T,NM_001844.4:c.2734-160G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,2.947,0.001,1KG_EUR_AF,COL2A1
286850,12:48372702:G>A,NM_001844.4:c.2734-161C>T,\N,\N,41/53,Unknown significance,\N,intron_variant,0.399,0.0029,1KG_AMR_AF,COL2A1
286851,12:48372717:C>T,NM_001844.4:c.2734-176G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,4.893,0.001,1KG_EUR_AF,COL2A1
286852,12:48372740:A>T,NM_001844.4:c.2734-199T>A,\N,\N,41/53,Benign,\N,intron_variant,3.478,0.1044,1KG_AFR_AF,COL2A1
286853,12:48372753:C>T,NM_001844.4:c.2734-212G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,5.065,0.0041,1KG_SAS_AF,COL2A1
286854,12:48372788:C>T,NM_001844.4:c.2734-247G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,5.832,\N,\N,COL2A1
286855,12:48372789:C>T,NM_001844.4:c.2734-248G>A,\N,\N,41/53,Benign,\N,intron_variant,4.259,0.1135,1KG_AFR_AF,COL2A1
286856,12:48372799:T>C,NM_001844.4:c.2734-258A>G,\N,\N,41/53,Unknown significance,\N,intron_variant,5.031,\N,\N,COL2A1
286857,12:48372810:C>T,NM_001844.4:c.2734-269G>A,\N,\N,41/53,Benign,\N,intron_variant,13.43,0.0666,1KG_EUR_AF,COL2A1
286858,12:48372838:G>A,NM_001844.4:c.2734-297C>T,\N,\N,41/53,Unknown significance,\N,intron_variant,3.05,\N,\N,COL2A1
286859,12:48372841:C>T,NM_001844.4:c.2734-300G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,5.286,0.0014,1KG_AMR_AF,COL2A1
286860,12:48372842:C>T,NM_001844.4:c.2734-301G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,0.298,\N,\N,COL2A1
286861,12:48372843:G>A,NM_001844.4:c.2734-302C>T,\N,\N,41/53,Unknown significance,\N,intron_variant,3.924,0.001,1KG_EAS_AF,COL2A1
286862,12:48372853:T>A,NM_001844.4:c.2734-312A>T,\N,\N,41/53,Unknown significance,\N,intron_variant,5.183,\N,\N,COL2A1
286863,12:48372875:G>T,NM_001844.4:c.2734-334C>A,\N,\N,41/53,Unknown significance,\N,intron_variant,0.941,0.0038,1KG_AFR_AF,COL2A1
286864,12:48372880:C>T,NM_001844.4:c.2734-339G>A,\N,\N,41/53,Benign,\N,intron_variant,4.812,0.1044,1KG_AFR_AF,COL2A1
286865,12:48372888:T>G,NM_001844.4:c.2734-347A>C,\N,\N,41/53,Benign,\N,intron_variant,1.171,0.997,1KG_EAS_AF,COL2A1
286866,12:48372905:C>T,NM_001844.4:c.2734-364G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,1.526,\N,\N,COL2A1
286867,12:48372915:C>T,NM_001844.4:c.2734-374G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,5.657,0.001,1KG_EAS_AF,COL2A1
286868,12:48372917:C>T,NM_001844.4:c.2734-376G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,3.238,0.0008,1KG_AFR_AF,COL2A1
286869,12:48372932:C>T,NM_001844.4:c.2733+362G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,4.923,\N,\N,COL2A1
286870,12:48372948:C>T,NM_001844.4:c.2733+346G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,0.266,\N,\N,COL2A1
286871,12:48372963:C>T,NM_001844.4:c.2733+331G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,1.062,0.001,1KG_EUR_AF,COL2A1
286872,12:48372964:G>A,NM_001844.4:c.2733+330C>T,\N,\N,41/53,Benign,\N,intron_variant,0.926,0.0068,1KG_AFR_AF,COL2A1
286873,12:48372974:A>C,NM_001844.4:c.2733+320T>G,\N,\N,41/53,Unknown significance,\N,intron_variant,0.137,\N,\N,COL2A1
286874,12:48372988:TAAAGCACACAGAC>T,NM_001844.4:c.2733+293_2733+305del,\N,\N,41/53,Unknown significance,\N,intron_variant,10.44,\N,\N,COL2A1
286875,12:48372996:A>G,NM_001844.4:c.2733+298T>C,\N,\N,41/53,Unknown significance,\N,intron_variant,1.808,\N,\N,COL2A1
286876,12:48373031:T>G,NM_001844.4:c.2733+263A>C,\N,\N,41/53,Unknown significance,\N,intron_variant,2.772,\N,\N,COL2A1
286877,12:48373035:C>T,NM_001844.4:c.2733+259G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,3.469,0.001,1KG_EUR_AF,COL2A1
286878,12:48373055:C>G,NM_001844.4:c.2733+239G>C,\N,\N,41/53,Benign,\N,intron_variant,2.273,0.1036,1KG_AFR_AF,COL2A1
286879,12:48373074:A>G,NM_001844.4:c.2733+220T>C,\N,\N,41/53,Benign,\N,intron_variant,3.12,0.1036,1KG_AFR_AF,COL2A1
286880,12:48373081:C>T,NM_001844.4:c.2733+213G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,7.155,\N,\N,COL2A1
286881,12:48373085:G>A,NM_001844.4:c.2733+209C>T,\N,\N,41/53,Benign,\N,intron_variant,2.082,0.1036,1KG_AFR_AF,COL2A1
286882,12:48373097:T>G,NM_001844.4:c.2733+197A>C,\N,\N,41/53,Benign,\N,intron_variant,5.895,0.1036,1KG_AFR_AF,COL2A1
286883,12:48373101:G>A,NM_001844.4:c.2733+193C>T,\N,\N,41/53,Benign,\N,intron_variant,4.153,0.1036,1KG_AFR_AF,COL2A1
286884,12:48373113:A>C,NM_001844.4:c.2733+181T>G,\N,\N,41/53,Unknown significance,\N,intron_variant,12.36,0.0008,1KG_AFR_AF,COL2A1
286885,12:48373119:C>T,NM_001844.4:c.2733+175G>A,\N,\N,41/53,Benign,\N,intron_variant,11.73,0.0102,1KG_SAS_AF,COL2A1
286886,12:48373175:G>T,NM_001844.4:c.2733+119C>A,\N,\N,41/53,Unknown significance,\N,intron_variant,1.137,\N,\N,COL2A1
286887,12:48373176:G>A,NM_001844.4:c.2733+118C>T,\N,\N,41/53,Benign,\N,intron_variant,3.864,0.025,1KG_AFR_AF,COL2A1
286888,12:48373181:A>G,NM_001844.4:c.2733+113T>C,\N,\N,41/53,Benign,\N,intron_variant,1.034,0.3569,1KG_EUR_AF,COL2A1
286889,12:48373243:C>T,NM_001844.4:c.2733+51G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,9.04,0.0000605694,EXAC_SAS_AF,COL2A1
286890,12:48373251:T>C,NM_001844.4:c.2733+43A>G,\N,\N,41/53,Unknown significance,\N,intron_variant,1.362,0.00110865,EXAC_OTH_AF,COL2A1
286891,12:48373254:C>A,NM_001844.4:c.2733+40G>T,\N,\N,41/53,Unknown significance,\N,intron_variant,1.9,0.003,1KG_AFR_AF,COL2A1
286892,12:48373258:C>A,NM_001844.4:c.2733+36G>T,\N,\N,41/53,Unknown significance,\N,intron_variant,6.406,0.0000301987,EXAC_NFE_AF,COL2A1
286893,12:48373261:G>T,NM_001844.4:c.2733+33C>A,\N,\N,41/53,Unknown significance,\N,intron_variant,4.361,0.0000301932,EXAC_NFE_AF,COL2A1
286894,12:48373270:T>G,NM_001844.4:c.2733+24A>C,\N,\N,41/53,Unknown significance,\N,intron_variant,4.99,0.000116279,EVS_EA_AF,COL2A1
286895,12:48373273:C>T,NM_001844.4:c.2733+21G>A,\N,\N,41/53,Unknown significance,\N,intron_variant,5.836,0.000545124,EXAC_SAS_AF,COL2A1
286896,12:48373283:G>A,NM_001844.4:c.2733+11C>T,\N,\N,41/53,Unknown significance,\N,intron_variant,5.364,0.0000301796,EXAC_NFE_AF,COL2A1
286897,12:48373288:A>C,NM_001844.4:c.2733+6T>G,\N,\N,41/53,Unknown significance,\N,splice_region_variant&intron_variant,12.86,\N,\N,COL2A1
286898,12:48373292:A>G,NM_001844.4:c.2733+2T>C,\N,\N,41/53,Unknown significance,\N,splice_donor_variant,25.7,0.000015088,EXAC_NFE_AF,COL2A1
286899,12:48373300:G>A,NM_001844.4:c.2727C>T,NP_001835.3:p.Gly909=,41/54,\N,Unknown significance,\N,synonymous_variant,12.32,0.000151745,EXAC_FIN_AF,COL2A1
286900,12:48373302:C>A,NM_001844.4:c.2725G>T,NP_001835.3:p.Gly909Cys,41/54,\N,Pathogenic,Spondyloepimetaphyseal dysplasia| Strudwick,missense_variant,27.5,\N,\N,COL2A1
286901,12:48373303:T>TG,NM_001844.4:c.2723dup,NP_001835.3:p.Gly909ArgfsTer35,41/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
286902,12:48373311:C>CA,NM_001844.4:c.2715dup,NP_001835.3:p.Gly906TrpfsTer38,41/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,36,\N,\N,COL2A1
286903,12:48373314:C>T,NM_001844.4:c.2713G>A,NP_001835.3:p.Val905Ile,41/54,\N,Unknown significance,\N,missense_variant,24.1,0.0000605694,EXAC_SAS_AF,COL2A1
286904,12:48373315:G>A,NM_001844.4:c.2712C>T,NP_001835.3:p.Arg904=,41/54,\N,Unknown significance,\N,synonymous_variant,14.16,0.000115848,EXAC_EAS_AF,COL2A1
286905,12:48373316:C>T,NM_001844.4:c.2711G>A,NP_001835.3:p.Arg904His,41/54,\N,Unknown significance,\N,missense_variant,29.2,0.001,1KG_SAS_AF,COL2A1
286906,12:48373317:G>A,NM_001844.4:c.2710C>T,NP_001835.3:p.Arg904Cys,41/54,\N,Pathogenic,Stickler syndrome,missense_variant,25.8,\N,\N,COL2A1
286907,12:48373318:G>A,NM_001844.4:c.2709C>T,NP_001835.3:p.Gly903=,41/54,\N,Unknown significance,\N,synonymous_variant,12.55,\N,\N,COL2A1
286908,12:48373320:C>T,NM_001844.4:c.2707G>A,NP_001835.3:p.Gly903Ser,41/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26.7,\N,\N,COL2A1
286909,12:48373342:G>A,NM_001844.4:c.2685C>T,NP_001835.3:p.Ala895=,41/54,\N,Unknown significance,\N,synonymous_variant,11.28,0.000116063,EXAC_EAS_AF,COL2A1
286910,12:48373346:C>T,NM_001844.4:c.2681G>A,NP_001835.3:p.Gly894Glu,41/54,\N,Pathogenic,Achondrogenesis 2,missense_variant&splice_region_variant,25.3,\N,\N,COL2A1
286911,12:48373353:T>A,NM_001844.4:c.2680-6A>T,\N,\N,40/53,Unknown significance,\N,splice_region_variant&intron_variant,3.965,0.0000152031,EXAC_NFE_AF,COL2A1
286912,12:48373356:G>A,NM_001844.4:c.2680-9C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,4.425,0.000581395,EVS_EA_AF,COL2A1
286913,12:48373372:G>A,NM_001844.4:c.2680-25C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,5.384,0.0000999001,EXAC_AFR_AF,COL2A1
286914,12:48373372:G>C,NM_001844.4:c.2680-25C>G,\N,\N,40/53,Unknown significance,\N,intron_variant,1.876,0.0000154202,EXAC_NFE_AF,COL2A1
286915,12:48373390:G>C,NM_001844.4:c.2680-43C>G,\N,\N,40/53,Unknown significance,\N,intron_variant,1.179,0.0000479402,EXAC_NFE_AF,COL2A1
286916,12:48373394:G>A,NM_001844.4:c.2680-47C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,4.359,0.000227066,EVS_AA_AF,COL2A1
286917,12:48373413:G>A,NM_001844.4:c.2680-66C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,0.154,0.001,1KG_EAS_AF,COL2A1
286918,12:48373432:A>G,NM_001844.4:c.2680-85T>C,\N,\N,40/53,Unknown significance,\N,intron_variant,5.385,0.003,1KG_EUR_AF,COL2A1
286919,12:48373438:T>C,NM_001844.4:c.2680-91A>G,\N,\N,40/53,Unknown significance,\N,intron_variant,3.05,0.0043,1KG_AMR_AF,COL2A1
286920,12:48373445:G>A,NM_001844.4:c.2680-98C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,4.738,0.0043,1KG_AMR_AF,COL2A1
286921,12:48373452:C>T,NM_001844.4:c.2680-105G>A,\N,\N,40/53,Benign,\N,intron_variant,0.021,0.0545,1KG_AFR_AF,COL2A1
286922,12:48373453:G>A,NM_001844.4:c.2680-106C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,1.687,0.001,1KG_EAS_AF,COL2A1
286923,12:48373479:T>G,NM_001844.4:c.2680-132A>C,\N,\N,40/53,Benign,\N,intron_variant,7.481,0.1021,1KG_AFR_AF,COL2A1
286924,12:48373502:C>T,NM_001844.4:c.2680-155G>A,\N,\N,40/53,Benign,\N,intron_variant,3.263,0.007,1KG_EUR_AF,COL2A1
286925,12:48373503:G>A,NM_001844.4:c.2680-156C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,1.108,0.0031,1KG_SAS_AF,COL2A1
286926,12:48373511:T>C,NM_001844.4:c.2680-164A>G,\N,\N,40/53,Benign,\N,intron_variant,5.736,0.1021,1KG_AFR_AF,COL2A1
286927,12:48373516:G>A,NM_001844.4:c.2680-169C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,4.386,0.002,1KG_EUR_AF,COL2A1
286928,12:48373529:G>A,NM_001844.4:c.2680-182C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,4.215,0.001,1KG_SAS_AF,COL2A1
286929,12:48373536:C>A,NM_001844.4:c.2680-189G>T,\N,\N,40/53,Unknown significance,\N,intron_variant,3.973,0.0008,1KG_AFR_AF,COL2A1
286930,12:48373570:G>T,NM_001844.4:c.2679+222C>A,\N,\N,40/53,Benign,\N,intron_variant,2.766,0.182,1KG_SAS_AF,COL2A1
286931,12:48373579:G>A,NM_001844.4:c.2679+213C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,0.229,0.002,1KG_SAS_AF,COL2A1
286932,12:48373607:G>A,NM_001844.4:c.2679+185C>T,\N,\N,40/53,Benign,\N,intron_variant,1.51,0.0102,1KG_SAS_AF,COL2A1
286933,12:48373608:G>A,NM_001844.4:c.2679+184C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,4.77,0.0008,1KG_AFR_AF,COL2A1
286934,12:48373631:A>G,NM_001844.4:c.2679+161T>C,\N,\N,40/53,Unknown significance,\N,intron_variant,4.421,0.001,1KG_EAS_AF,COL2A1
286935,12:48373681:C>T,NM_001844.4:c.2679+111G>A,\N,\N,40/53,Benign,\N,intron_variant,0.854,0.0076,1KG_AFR_AF,COL2A1
286936,12:48373682:G>A,NM_001844.4:c.2679+110C>T,\N,\N,40/53,Unknown significance,\N,intron_variant,2.95,0.001,1KG_SAS_AF,COL2A1
286937,12:48373701:C>T,NM_001844.4:c.2679+91G>A,\N,\N,40/53,Unknown significance,\N,intron_variant,1.915,0.002,1KG_EAS_AF,COL2A1
286938,12:48373716:A>AC,NM_001844.4:c.2679+75dup,\N,\N,40/53,Benign,\N,intron_variant,\N,0.0072,1KG_SAS_AF,COL2A1
286939,12:48373716:A>ACC,NM_001844.4:c.2679+75_2679+76insGG,\N,\N,40/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286940,12:48373717:C>CA,NM_001844.4:c.2679+74dup,\N,\N,40/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286941,12:48373717:CA>C,NM_001844.4:c.2679+74del,\N,\N,40/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286942,12:48373718:A>AC,NM_001844.4:c.2679+73dup,\N,\N,40/53,Unknown significance,\N,intron_variant,0.741,\N,\N,COL2A1
286943,12:48373718:A>ACCC,NM_001844.4:c.2679+71_2679+73dup,\N,\N,40/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
286944,12:48373718:A>C,NM_001844.4:c.2679+74T>G,\N,\N,40/53,Benign,\N,intron_variant,3.139,0.0072,1KG_SAS_AF,COL2A1
286945,12:48373734:C>A,NM_001844.4:c.2679+58G>T,\N,\N,40/53,Unknown significance,\N,intron_variant,6.723,\N,\N,COL2A1
286946,12:48373748:C>A,NM_001844.4:c.2679+44G>T,\N,\N,40/53,Unknown significance,\N,intron_variant,5.667,0.0023172,EXAC_SAS_AF,COL2A1
286947,12:48373757:G>C,NM_001844.4:c.2679+35C>G,\N,\N,40/53,Unknown significance,\N,intron_variant,1.895,0.000151378,EXAC_NFE_AF,COL2A1
286948,12:48373762:G>A,NM_001844.4:c.2679+30C>T,\N,\N,40/53,Benign,\N,intron_variant,1.232,0.0567,1KG_AFR_AF,COL2A1
286949,12:48373763:C>T,NM_001844.4:c.2679+29G>A,\N,\N,40/53,Benign,\N,intron_variant,3.677,0.00561798,EXAC_OTH_AF,COL2A1
286950,12:48373772:G>T,NM_001844.4:c.2679+20C>A,\N,\N,40/53,Unknown significance,\N,intron_variant,0.053,\N,\N,COL2A1
286951,12:48373782:C>T,NM_001844.4:c.2679+10G>A,\N,\N,40/53,Unknown significance,\N,intron_variant,15.67,0.001,1KG_EAS_AF,COL2A1
286952,12:48373783:C>A,NM_001844.4:c.2679+9G>T,\N,\N,40/53,Unknown significance,\N,intron_variant,16.56,0.000126518,EXAC_SAS_AF,COL2A1
286953,12:48373786:A>G,NM_001844.4:c.2679+6T>C,\N,\N,40/53,Unknown significance,\N,splice_region_variant&intron_variant,16.41,\N,\N,COL2A1
286954,12:48373787:C>G,NM_001844.4:c.2679+5G>C,\N,\N,40/53,Pathogenic,Stickler syndrome,splice_region_variant&intron_variant,19,\N,\N,COL2A1
286955,12:48373788:T>A,NM_001844.4:c.2679+4A>T,\N,\N,40/53,Unknown significance,\N,splice_region_variant&intron_variant,19.16,\N,\N,COL2A1
286956,12:48373792:C>G,NM_001844.4:c.2679G>C,NP_001835.3:p.Pro893=,40/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.1,0.001,1KG_EUR_AF,COL2A1
286957,12:48373792:C>T,NM_001844.4:c.2679G>A,NP_001835.3:p.Pro893=,40/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,16.79,0.000136351,EXAC_NFE_AF,COL2A1
286958,12:48373792:C>CG,NM_001844.4:c.2678dup,NP_001835.3:p.Ala895SerfsTer49,40/54,\N,Pathogenic,Stickler syndrome,frameshift_variant&splice_region_variant,35,\N,\N,COL2A1
286959,12:48373792:CG>C,NM_001844.4:c.2678del,NP_001835.3:p.Pro893ArgfsTer135,40/54,\N,Pathogenic,Stickler syndrome,frameshift_variant&splice_region_variant,35,\N,\N,COL2A1
286960,12:48373798:G>C,NM_001844.4:c.2673C>G,NP_001835.3:p.Gly891=,40/54,\N,Benign,\N,synonymous_variant,7.155,0.154391,EXAC_EAS_AF,COL2A1
286961,12:48373800:C>G,NM_001844.4:c.2671G>C,NP_001835.3:p.Gly891Arg,40/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,26.1,\N,\N,COL2A1
286962,12:48373809:C>T,NM_001844.4:c.2662G>A,NP_001835.3:p.Gly888Ser,40/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26.8,\N,\N,COL2A1
286963,12:48373812:G>A,NM_001844.4:c.2659C>T,NP_001835.3:p.Arg887Ter,40/54,\N,Pathogenic,Stickler syndrome,stop_gained,41,\N,\N,COL2A1
286964,12:48373816:T>A,NM_001844.4:c.2655A>T,NP_001835.3:p.Gly885=,40/54,\N,Unknown significance,\N,synonymous_variant,9.674,0.000123824,EXAC_NFE_AF,COL2A1
286965,12:48373818:C>A,NM_001844.4:c.2653G>T,NP_001835.3:p.Gly885Ter,40/54,\N,Pathogenic,Stickler syndrome,stop_gained,41,\N,\N,COL2A1
286966,12:48373829:G>A,NM_001844.4:c.2642C>T,NP_001835.3:p.Thr881Ile,40/54,\N,Unknown significance,\N,missense_variant,22.9,\N,\N,COL2A1
286967,12:48373839:T>C,NM_001844.4:c.2632A>G,NP_001835.3:p.Thr878Ala,40/54,\N,Unknown significance,\N,missense_variant,16.01,0.000118427,EVS_EA_AF,COL2A1
286968,12:48373847:T>C,NM_001844.4:c.2626-2A>G,\N,\N,39/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,24.8,\N,\N,COL2A1
286969,12:48373854:G>C,NM_001844.4:c.2626-9C>G,\N,\N,39/53,Unknown significance,\N,intron_variant,2.161,0.000123365,EXAC_NFE_AF,COL2A1
286970,12:48373864:G>A,NM_001844.4:c.2626-19C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,13.1,\N,\N,COL2A1
286971,12:48373876:C>T,NM_001844.4:c.2626-31G>A,\N,\N,39/53,Unknown significance,\N,intron_variant,11.26,0.000126422,EXAC_SAS_AF,COL2A1
286972,12:48373891:G>A,NM_001844.4:c.2626-46C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,4.051,0.0014,1KG_AMR_AF,COL2A1
286973,12:48373893:C>T,NM_001844.4:c.2626-48G>A,\N,\N,39/53,Unknown significance,\N,intron_variant,3.141,0.000126486,EXAC_SAS_AF,COL2A1
286974,12:48373894:G>A,NM_001844.4:c.2626-49C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,2.084,\N,\N,COL2A1
286975,12:48373904:T>C,NM_001844.4:c.2626-59A>G,\N,\N,39/53,Benign,\N,intron_variant,6.82,0.0069,1KG_EAS_AF,COL2A1
286976,12:48373939:G>A,NM_001844.4:c.2626-94C>T,\N,\N,39/53,Benign,\N,intron_variant,9.37,0.1021,1KG_AFR_AF,COL2A1
286977,12:48373943:A>G,NM_001844.4:c.2626-98T>C,\N,\N,39/53,Benign,\N,intron_variant,12.99,0.0219,1KG_AFR_AF,COL2A1
286978,12:48373983:T>G,NM_001844.4:c.2626-138A>C,\N,\N,39/53,Unknown significance,\N,intron_variant,7.012,\N,\N,COL2A1
286979,12:48374011:A>G,NM_001844.4:c.2626-166T>C,\N,\N,39/53,Benign,\N,intron_variant,3.59,0.1112,1KG_AFR_AF,COL2A1
286980,12:48374028:T>C,NM_001844.4:c.2626-183A>G,\N,\N,39/53,Benign,\N,intron_variant,2.662,0.1112,1KG_AFR_AF,COL2A1
286981,12:48374060:G>A,NM_001844.4:c.2626-215C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,3.173,0.001,1KG_EAS_AF,COL2A1
286982,12:48374078:C>T,NM_001844.4:c.2626-233G>A,\N,\N,39/53,Unknown significance,\N,intron_variant,1.814,0.0008,1KG_AFR_AF,COL2A1
286983,12:48374079:G>A,NM_001844.4:c.2626-234C>T,\N,\N,39/53,Benign,\N,intron_variant,0.894,0.0234,1KG_AFR_AF,COL2A1
286984,12:48374098:C>T,NM_001844.4:c.2625+239G>A,\N,\N,39/53,Unknown significance,\N,intron_variant,4.857,\N,\N,COL2A1
286985,12:48374099:G>A,NM_001844.4:c.2625+238C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,2.134,\N,\N,COL2A1
286986,12:48374131:T>C,NM_001844.4:c.2625+206A>G,\N,\N,39/53,Unknown significance,\N,intron_variant,4.629,\N,\N,COL2A1
286987,12:48374151:C>G,NM_001844.4:c.2625+186G>C,\N,\N,39/53,Unknown significance,\N,intron_variant,3.368,0.0031,1KG_SAS_AF,COL2A1
286988,12:48374185:C>G,NM_001844.4:c.2625+152G>C,\N,\N,39/53,Unknown significance,\N,intron_variant,2.161,0.001,1KG_SAS_AF,COL2A1
286989,12:48374227:G>T,NM_001844.4:c.2625+110C>A,\N,\N,39/53,Unknown significance,\N,intron_variant,1.915,0.001,1KG_EAS_AF,COL2A1
286990,12:48374229:G>A,NM_001844.4:c.2625+108C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,2.191,\N,\N,COL2A1
286991,12:48374232:C>T,NM_001844.4:c.2625+105G>A,\N,\N,39/53,Unknown significance,\N,intron_variant,14.16,0.001,1KG_EUR_AF,COL2A1
286992,12:48374246:C>G,NM_001844.4:c.2625+91G>C,\N,\N,39/53,Unknown significance,\N,intron_variant,5.51,0.004,1KG_EAS_AF,COL2A1
286993,12:48374255:G>A,NM_001844.4:c.2625+82C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,4.764,0.0023,1KG_AFR_AF,COL2A1
286994,12:48374286:G>A,NM_001844.4:c.2625+51C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,4.563,0.002,1KG_SAS_AF,COL2A1
286995,12:48374294:C>A,NM_001844.4:c.2625+43G>T,\N,\N,39/53,Unknown significance,\N,intron_variant,6.803,0.0000664628,EXAC_NFE_AF,COL2A1
286996,12:48374296:C>T,NM_001844.4:c.2625+41G>A,\N,\N,39/53,Benign,\N,intron_variant,6.165,0.0165043,EXAC_AFR_AF,COL2A1
286997,12:48374303:G>A,NM_001844.4:c.2625+34C>T,\N,\N,39/53,Unknown significance,\N,intron_variant,0.286,0.000116604,EVS_EA_AF,COL2A1
286998,12:48374309:A>G,NM_001844.4:c.2625+28T>C,\N,\N,39/53,Unknown significance,\N,intron_variant,5.39,0.0015,1KG_AFR_AF,COL2A1
286999,12:48374310:C>A,NM_001844.4:c.2625+27G>T,\N,\N,39/53,Unknown significance,\N,intron_variant,4.782,\N,\N,COL2A1
287000,12:48374319:G>C,NM_001844.4:c.2625+18C>G,\N,\N,39/53,Unknown significance,\N,intron_variant,1.426,0.000112334,EXAC_SAS_AF,COL2A1
287001,12:48374324:C>T,NM_001844.4:c.2625+13G>A,\N,\N,39/53,Unknown significance,\N,intron_variant,2.811,0.0000508078,EXAC_NFE_AF,COL2A1
287002,12:48374327:C>T,NM_001844.4:c.2625+10G>A,\N,\N,39/53,Unknown significance,\N,intron_variant,2.446,0.000617665,EXAC_AMR_AF,COL2A1
287003,12:48374328:G>A,NM_001844.4:c.2625+9C>T,\N,\N,39/53,Benign,\N,intron_variant,2.265,0.12588,EXAC_AFR_AF,COL2A1
287004,12:48374336:C>A,NM_001844.4:c.2625+1G>T,\N,\N,39/53,Pathogenic,Stickler syndrome,splice_donor_variant,27.4,\N,\N,COL2A1
287005,12:48374342:G>A,NM_001844.4:c.2620C>T,NP_001835.3:p.Pro874Ser,39/54,\N,Unknown significance,\N,missense_variant,24.7,0.0015,1KG_AFR_AF,COL2A1
287006,12:48374345:C>T,NM_001844.4:c.2617G>A,NP_001835.3:p.Gly873Arg,39/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,26.2,\N,\N,COL2A1
287007,12:48374351:C>T,NM_001844.4:c.2611G>A,NP_001835.3:p.Ala871Thr,39/54,\N,Unknown significance,\N,missense_variant,23.9,0.0000256621,EXAC_NFE_AF,COL2A1
287008,12:48374352:T>C,NM_001844.4:c.2610A>G,NP_001835.3:p.Gly870=,39/54,\N,Unknown significance,\N,synonymous_variant,3.588,0.001,1KG_EAS_AF,COL2A1
287009,12:48374353:C>T,NM_001844.4:c.2609G>A,NP_001835.3:p.Gly870Glu,39/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26.3,\N,\N,COL2A1
287010,12:48374357:AGGGGCCCTGAGGACCAG>A,NM_001844.4:c.2588_2604del,NP_001835.3:p.Pro863LeufsTer16,39/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287011,12:48374360:G>A,NM_001844.4:c.2602C>T,NP_001835.3:p.Pro868Ser,39/54,\N,Unknown significance,\N,missense_variant,22,0.0000449337,EXAC_NFE_AF,COL2A1
287012,12:48374376:G>A,NM_001844.4:c.2586C>T,NP_001835.3:p.Ala862=,39/54,\N,Unknown significance,\N,synonymous_variant,12.08,0.0000975267,EXAC_NFE_AF,COL2A1
287013,12:48374380:C>A,NM_001844.4:c.2582G>T,NP_001835.3:p.Gly861Val,39/54,\N,Pathogenic,Spondylometaphyseal dysplasia| Algerian type,missense_variant,26.3,\N,\N,COL2A1
287014,12:48374387:C>T,NM_001844.4:c.2575G>A,NP_001835.3:p.Asp859Asn,39/54,\N,Unknown significance,\N,missense_variant,24.4,0.0000187049,EXAC_NFE_AF,COL2A1
287015,12:48374388:G>A,NM_001844.4:c.2574C>T,NP_001835.3:p.Gly858=,39/54,\N,Benign,\N,synonymous_variant,12.99,0.00976954,EXAC_FIN_AF,COL2A1
287016,12:48374398:C>A,NM_001844.4:c.2564G>T,NP_001835.3:p.Gly855Val,39/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26,\N,\N,COL2A1
287017,12:48374400:G>A,NM_001844.4:c.2562C>T,NP_001835.3:p.Ala854=,39/54,\N,Unknown significance,\N,synonymous_variant,14.55,0.000226963,EVS_AA_AF,COL2A1
287018,12:48374400:G>T,NM_001844.4:c.2562C>A,NP_001835.3:p.Ala854=,39/54,\N,Unknown significance,\N,synonymous_variant,12.85,\N,\N,COL2A1
287019,12:48374403:C>T,NM_001844.4:c.2559G>A,NP_001835.3:p.Glu853=,39/54,\N,Unknown significance,\N,synonymous_variant,15.73,0.0000187154,EXAC_NFE_AF,COL2A1
287020,12:48374411:G>C,NM_001844.4:c.2551C>G,NP_001835.3:p.Gln851Glu,39/54,\N,Unknown significance,\N,missense_variant,13.47,\N,\N,COL2A1
287021,12:48374415:A>T,NM_001844.4:c.2547T>A,NP_001835.3:p.Gly849=,39/54,\N,Unknown significance,\N,synonymous_variant,0.185,0.000135575,EXAC_EAS_AF,COL2A1
287022,12:48374417:C>T,NM_001844.4:c.2545G>A,NP_001835.3:p.Gly849Ser,39/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26.1,\N,\N,COL2A1
287023,12:48374425:C>T,NM_001844.4:c.2537G>A,NP_001835.3:p.Gly846Glu,39/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,26.4,\N,\N,COL2A1
287024,12:48374430:C>T,NM_001844.4:c.2532G>A,NP_001835.3:p.Gln844=,39/54,\N,Unknown significance,\N,synonymous_variant,13.16,0.000132345,EXAC_AFR_AF,COL2A1
287025,12:48374432:G>A,NM_001844.4:c.2530C>T,NP_001835.3:p.Gln844Ter,39/54,\N,Pathogenic,Stickler syndrome type 1,stop_gained,43,\N,\N,COL2A1
287026,12:48374439:A>G,NM_001844.4:c.2523T>C,NP_001835.3:p.Ala841=,39/54,\N,Unknown significance,\N,synonymous_variant,9.834,\N,\N,COL2A1
287027,12:48374440:G>A,NM_001844.4:c.2522C>T,NP_001835.3:p.Ala841Val,39/54,\N,Unknown significance,\N,missense_variant,23.8,\N,\N,COL2A1
287028,12:48374445:C>T,NM_001844.4:c.2518-1G>A,\N,\N,38/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,27.3,\N,\N,COL2A1
287029,12:48374451:T>C,NM_001844.4:c.2518-7A>G,\N,\N,38/53,Unknown significance,\N,splice_region_variant&intron_variant,0.379,\N,\N,COL2A1
287030,12:48374460:G>C,NM_001844.4:c.2518-16C>G,\N,\N,38/53,Unknown significance,\N,intron_variant,0.388,0.0000244523,EXAC_NFE_AF,COL2A1
287031,12:48374464:G>A,NM_001844.4:c.2518-20C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,1.7,0.000156446,EXAC_AFR_AF,COL2A1
287032,12:48374468:G>A,NM_001844.4:c.2518-24C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,3.887,0.000185529,EXAC_EAS_AF,COL2A1
287033,12:48374483:G>T,NM_001844.4:c.2518-39C>A,\N,\N,38/53,Unknown significance,\N,intron_variant,0.772,0.001,1KG_EAS_AF,COL2A1
287034,12:48374484:C>T,NM_001844.4:c.2518-40G>A,\N,\N,38/53,Unknown significance,\N,intron_variant,5.71,0.00079968,EXAC_AMR_AF,COL2A1
287035,12:48374488:A>G,NM_001844.4:c.2518-44T>C,\N,\N,38/53,Unknown significance,\N,intron_variant,3.743,0.000216544,EXAC_AMR_AF,COL2A1
287036,12:48374512:C>T,NM_001844.4:c.2518-68G>A,\N,\N,38/53,Unknown significance,\N,intron_variant,5.688,0.002,1KG_EUR_AF,COL2A1
287037,12:48374513:A>G,NM_001844.4:c.2518-69T>C,\N,\N,38/53,Benign,\N,intron_variant,2.615,0.996,1KG_EAS_AF,COL2A1
287038,12:48374517:G>C,NM_001844.4:c.2518-73C>G,\N,\N,38/53,Unknown significance,\N,intron_variant,2.462,\N,\N,COL2A1
287039,12:48374518:ACT>A,NM_001844.4:c.2518-76_2518-75del,\N,\N,38/53,Unknown significance,\N,intron_variant,7.362,\N,\N,COL2A1
287040,12:48374535:G>A,NM_001844.4:c.2518-91C>T,\N,\N,38/53,Benign,\N,intron_variant,3.125,0.0787,1KG_AFR_AF,COL2A1
287041,12:48374566:A>G,NM_001844.4:c.2518-122T>C,\N,\N,38/53,Unknown significance,\N,intron_variant,0.559,\N,\N,COL2A1
287042,12:48374569:A>T,NM_001844.4:c.2518-125T>A,\N,\N,38/53,Unknown significance,\N,intron_variant,0.138,0.001,1KG_EAS_AF,COL2A1
287043,12:48374575:G>A,NM_001844.4:c.2517+123C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,4.215,0.0015,1KG_AFR_AF,COL2A1
287044,12:48374580:G>A,NM_001844.4:c.2517+118C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,0.842,0.001,1KG_EUR_AF,COL2A1
287045,12:48374610:C>T,NM_001844.4:c.2517+88G>A,\N,\N,38/53,Unknown significance,\N,intron_variant,6.246,0.001,1KG_EAS_AF,COL2A1
287046,12:48374616:T>C,NM_001844.4:c.2517+82A>G,\N,\N,38/53,Benign,\N,intron_variant,3.401,0.3971,1KG_AFR_AF,COL2A1
287047,12:48374626:C>T,NM_001844.4:c.2517+72G>A,\N,\N,38/53,Unknown significance,\N,intron_variant,0.776,0.0043,1KG_AMR_AF,COL2A1
287048,12:48374633:C>T,NM_001844.4:c.2517+65G>A,\N,\N,38/53,Unknown significance,\N,intron_variant,4.709,0.0043,1KG_AMR_AF,COL2A1
287049,12:48374634:G>A,NM_001844.4:c.2517+64C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,1.569,0.001,1KG_EAS_AF,COL2A1
287050,12:48374650:G>A,NM_001844.4:c.2517+48C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,1.853,0.00232558,EXAC_AMR_AF,COL2A1
287051,12:48374669:G>T,NM_001844.4:c.2517+29C>A,\N,\N,38/53,Unknown significance,\N,intron_variant,3.405,\N,\N,COL2A1
287052,12:48374679:G>T,NM_001844.4:c.2517+19C>A,\N,\N,38/53,Unknown significance,\N,intron_variant,1.213,\N,\N,COL2A1
287053,12:48374680:A>G,NM_001844.4:c.2517+18T>C,\N,\N,38/53,Unknown significance,\N,intron_variant,2.493,0.000355872,EXAC_AFR_AF,COL2A1
287054,12:48374682:G>A,NM_001844.4:c.2517+16C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,2.187,\N,\N,COL2A1
287055,12:48374687:G>A,NM_001844.4:c.2517+11C>T,\N,\N,38/53,Unknown significance,\N,intron_variant,2.076,\N,\N,COL2A1
287056,12:48374696:A>C,NM_001844.4:c.2517+2T>G,\N,\N,38/53,Pathogenic,Stickler syndrome,splice_donor_variant,24,\N,\N,COL2A1
287057,12:48374697:C>G,NM_001844.4:c.2517+1G>C,\N,\N,38/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.3,\N,\N,COL2A1
287058,12:48374716:C>T,NM_001844.4:c.2499G>A,NP_001835.3:p.Ala833=,38/54,\N,Unknown significance,\N,synonymous_variant,15.38,0.000126295,EXAC_SAS_AF,COL2A1
287059,12:48374721:G>C,NM_001844.4:c.2494C>G,NP_001835.3:p.Pro832Ala,38/54,\N,Unknown significance,\N,missense_variant,17.31,\N,\N,COL2A1
287060,12:48374721:G>GT,NM_001844.4:c.2493dup,NP_001835.3:p.Pro832ThrfsTer11,38/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287061,12:48374725:G>A,NM_001844.4:c.2490C>T,NP_001835.3:p.Pro830=,38/54,\N,Unknown significance,\N,synonymous_variant,10.78,0.000113611,EXAC_NFE_AF,COL2A1
287062,12:48374729:G>C,NM_001844.4:c.2486C>G,NP_001835.3:p.Pro829Arg,38/54,\N,Unknown significance,\N,missense_variant,24,0.00035868,EXAC_AFR_AF,COL2A1
287063,12:48374730:G>A,NM_001844.4:c.2485C>T,NP_001835.3:p.Pro829Ser,38/54,\N,Unknown significance,\N,missense_variant,22.6,\N,\N,COL2A1
287064,12:48374731:C>G,NM_001844.4:c.2484G>C,NP_001835.3:p.Gly828=,38/54,\N,Benign,\N,synonymous_variant,12.52,0.0454,1KG_AFR_AF,COL2A1
287065,12:48374735:GTC>G,NM_001844.4:c.2478_2479del,NP_001835.3:p.Glu826AspfsTer16,38/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287066,12:48374740:T>C,NM_001844.4:c.2475A>G,NP_001835.3:p.Gly825=,38/54,\N,Unknown significance,\N,synonymous_variant,2.817,0.000239578,EVS_AA_AF,COL2A1
287067,12:48374742:C>A,NM_001844.4:c.2473G>T,NP_001835.3:p.Gly825Ter,38/54,\N,Pathogenic,Stickler syndrome,stop_gained,44,\N,\N,COL2A1
287068,12:48374743:AC>A,NM_001844.4:c.2471del,NP_001835.3:p.Arg824LeufsTer57,38/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287069,12:48374744:C>T,NM_001844.4:c.2471G>A,NP_001835.3:p.Arg824His,38/54,\N,Unknown significance,\N,missense_variant,31,0.00158228,EXAC_EAS_AF,COL2A1
287070,12:48374746:T>A,NM_001844.4:c.2469A>T,NP_001835.3:p.Glu823Asp,38/54,\N,Likely benign,\N,missense_variant,15.87,\N,\N,COL2A1
287071,12:48374748:C>A,NM_001844.4:c.2467G>T,NP_001835.3:p.Glu823Ter,38/54,\N,Pathogenic,Stickler syndrome,stop_gained,42,\N,\N,COL2A1
287072,12:48374751:C>T,NM_001844.4:c.2464G>A,NP_001835.3:p.Gly822Ser,38/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant&splice_region_variant,26.8,\N,\N,COL2A1
287073,12:48374763:G>C,NM_001844.4:c.2464-12C>G,\N,\N,37/53,Unknown significance,\N,intron_variant,12.61,0.00012987,EXAC_SAS_AF,COL2A1
287074,12:48374770:T>G,NM_001844.4:c.2464-19A>C,\N,\N,37/53,Unknown significance,\N,intron_variant,1.129,0.00330033,EXAC_EAS_AF,COL2A1
287075,12:48374771:G>A,NM_001844.4:c.2464-20C>T,\N,\N,37/53,Unknown significance,\N,intron_variant,1.41,\N,\N,COL2A1
287076,12:48374773:C>T,NM_001844.4:c.2464-22G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,0.195,0.00165017,EXAC_EAS_AF,COL2A1
287077,12:48374774:G>A,NM_001844.4:c.2464-23C>T,\N,\N,37/53,Unknown significance,\N,intron_variant,3.179,\N,\N,COL2A1
287078,12:48374780:T>A,NM_001844.4:c.2464-29A>T,\N,\N,37/53,Unknown significance,\N,intron_variant,14.67,0.000128041,EVS_EA_AF,COL2A1
287079,12:48374789:G>A,NM_001844.4:c.2464-38C>T,\N,\N,37/53,Unknown significance,\N,intron_variant,1.379,0.0031,1KG_SAS_AF,COL2A1
287080,12:48374826:T>G,NM_001844.4:c.2464-75A>C,\N,\N,37/53,Benign,\N,intron_variant,4.451,0.432091,EVS_EA_AF,COL2A1
287081,12:48374859:C>T,NM_001844.4:c.2464-108G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,0.828,0.0015,1KG_AFR_AF,COL2A1
287082,12:48374860:G>A,NM_001844.4:c.2464-109C>T,\N,\N,37/53,Unknown significance,\N,intron_variant,0.634,0.0015,1KG_AFR_AF,COL2A1
287083,12:48374867:T>C,NM_001844.4:c.2464-116A>G,\N,\N,37/53,Unknown significance,\N,intron_variant,5.278,\N,\N,COL2A1
287084,12:48374875:G>GC,NM_001844.4:c.2464-125dup,\N,\N,37/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
287085,12:48374899:G>C,NM_001844.4:c.2464-148C>G,\N,\N,37/53,Unknown significance,\N,intron_variant,2.206,0.001,1KG_EAS_AF,COL2A1
287086,12:48374908:A>C,NM_001844.4:c.2464-157T>G,\N,\N,37/53,Unknown significance,\N,intron_variant,1.815,0.0008,1KG_AFR_AF,COL2A1
287087,12:48374910:C>T,NM_001844.4:c.2464-159G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,5.441,\N,\N,COL2A1
287088,12:48374912:C>T,NM_001844.4:c.2464-161G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,5.267,0.0008,1KG_AFR_AF,COL2A1
287089,12:48374932:A>T,NM_001844.4:c.2464-181T>A,\N,\N,37/53,Benign,\N,intron_variant,2.763,0.0794,1KG_AFR_AF,COL2A1
287090,12:48374933:CAT>C,NM_001844.4:c.2464-184_2464-183del,\N,\N,37/53,Unknown significance,\N,intron_variant,6.221,0.0029,1KG_AMR_AF,COL2A1
287091,12:48374947:C>T,NM_001844.4:c.2463+179G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,2.676,\N,\N,COL2A1
287092,12:48374948:G>A,NM_001844.4:c.2463+178C>T,\N,\N,37/53,Unknown significance,\N,intron_variant,2.481,0.0015,1KG_AFR_AF,COL2A1
287093,12:48374956:C>CCCCTT,NM_001844.4:c.2463+165_2463+169dup,\N,\N,37/53,Benign,\N,intron_variant,4.449,0.0061,1KG_AFR_AF,COL2A1
287094,12:48374992:C>T,NM_001844.4:c.2463+134G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,5.716,\N,\N,COL2A1
287095,12:48374993:A>C,NM_001844.4:c.2463+133T>G,\N,\N,37/53,Unknown significance,\N,intron_variant,2.587,\N,\N,COL2A1
287096,12:48374995:C>T,NM_001844.4:c.2463+131G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,3.158,0.001,1KG_EAS_AF,COL2A1
287097,12:48374996:G>A,NM_001844.4:c.2463+130C>T,\N,\N,37/53,Unknown significance,\N,intron_variant,2.041,0.0008,1KG_AFR_AF,COL2A1
287098,12:48375009:G>C,NM_001844.4:c.2463+117C>G,\N,\N,37/53,Unknown significance,\N,intron_variant,0.318,\N,\N,COL2A1
287099,12:48375011:C>G,NM_001844.4:c.2463+115G>C,\N,\N,37/53,Unknown significance,\N,intron_variant,2.14,\N,\N,COL2A1
287100,12:48375016:C>CCTG,NM_001844.4:c.2463+107_2463+109dup,\N,\N,37/53,Unknown significance,\N,intron_variant,5.636,0.0031,1KG_SAS_AF,COL2A1
287101,12:48375021:CAG>C,NM_001844.4:c.2463+103_2463+104del,\N,\N,37/53,Unknown significance,\N,intron_variant,5.983,0.0031,1KG_SAS_AF,COL2A1
287102,12:48375023:G>GC,NM_001844.4:c.2463+102dup,\N,\N,37/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
287103,12:48375065:C>T,NM_001844.4:c.2463+61G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,3.684,0.0031,1KG_SAS_AF,COL2A1
287104,12:48375082:C>T,NM_001844.4:c.2463+44G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,2.045,\N,\N,COL2A1
287105,12:48375083:A>C,NM_001844.4:c.2463+43T>G,\N,\N,37/53,Unknown significance,\N,intron_variant,0.841,0.000118483,EXAC_AMR_AF,COL2A1
287106,12:48375090:T>G,NM_001844.4:c.2463+36A>C,\N,\N,37/53,Unknown significance,\N,intron_variant,1.026,\N,\N,COL2A1
287107,12:48375091:C>G,NM_001844.4:c.2463+35G>C,\N,\N,37/53,Unknown significance,\N,intron_variant,0.121,0.000117014,EXAC_AMR_AF,COL2A1
287108,12:48375091:C>T,NM_001844.4:c.2463+35G>A,\N,\N,37/53,Unknown significance,\N,intron_variant,0.288,0.0000577768,EXAC_NFE_AF,COL2A1
287109,12:48375092:G>A,NM_001844.4:c.2463+34C>T,\N,\N,37/53,Unknown significance,\N,intron_variant,1.956,0.00162866,EXAC_OTH_AF,COL2A1
287110,12:48375093:G>T,NM_001844.4:c.2463+33C>A,\N,\N,37/53,Unknown significance,\N,intron_variant,4.257,0.0000770654,EXAC_SAS_AF,COL2A1
287111,12:48375096:A>T,NM_001844.4:c.2463+30T>A,\N,\N,37/53,Unknown significance,\N,intron_variant,4.428,0.0000188331,EXAC_NFE_AF,COL2A1
287112,12:48375109:G>C,NM_001844.4:c.2463+17C>G,\N,\N,37/53,Unknown significance,\N,intron_variant,1.806,\N,\N,COL2A1
287113,12:48375118:ACACT>A,NM_001844.4:c.2463+4_2463+7del,\N,\N,37/53,Pathogenic,Spondyloepiphyseal dysplasia,splice_region_variant&intron_variant,20.2,\N,\N,COL2A1
287114,12:48375121:C>T,NM_001844.4:c.2463+5G>A,\N,\N,37/53,Unknown significance,\N,splice_region_variant&intron_variant,17.32,0.0000523597,EXAC_NFE_AF,COL2A1
287115,12:48375126:C>T,NM_001844.4:c.2463G>A,NP_001835.3:p.Pro821=,37/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.09,0.0000733353,EXAC_SAS_AF,COL2A1
287116,12:48375127:G>A,NM_001844.4:c.2462C>T,NP_001835.3:p.Pro821Leu,37/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.7,0.000116306,EVS_EA_AF,COL2A1
287117,12:48375131:C>T,NM_001844.4:c.2458G>A,NP_001835.3:p.Ala820Thr,37/54,\N,Likely benign,\N,missense_variant,23,0.000226963,EVS_AA_AF,COL2A1
287118,12:48375132:G>A,NM_001844.4:c.2457C>T,NP_001835.3:p.Gly819=,37/54,\N,Unknown significance,\N,synonymous_variant,10.59,0.000145751,EXAC_SAS_AF,COL2A1
287119,12:48375136:C>A,NM_001844.4:c.2453G>T,NP_001835.3:p.Arg818Leu,37/54,\N,Unknown significance,\N,missense_variant,28.3,0.00140845,EXAC_OTH_AF,COL2A1
287120,12:48375136:C>T,NM_001844.4:c.2453G>A,NP_001835.3:p.Arg818His,37/54,\N,Unknown significance,\N,missense_variant,28,0.000116279,EVS_EA_AF,COL2A1
287121,12:48375152:C>CT,NM_001844.4:c.2436dup,NP_001835.3:p.Gly813ArgfsTer11,37/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287122,12:48375154:G>A,NM_001844.4:c.2435C>T,NP_001835.3:p.Ala812Val,37/54,\N,Likely benign,\N,missense_variant,21.8,0.000119933,EXAC_AFR_AF,COL2A1
287123,12:48375161:C>A,NM_001844.4:c.2428G>T,NP_001835.3:p.Gly810Cys,37/54,\N,Likely pathogenic,Stickler syndrome type 1,missense_variant,27.7,\N,\N,COL2A1
287124,12:48375173:C>A,NM_001844.4:c.2416G>T,NP_001835.3:p.Val806Phe,37/54,\N,Likely benign,\N,missense_variant,25.3,\N,\N,COL2A1
287125,12:48375174:T>G,NM_001844.4:c.2415A>C,NP_001835.3:p.Glu805Asp,37/54,\N,Unknown significance,\N,missense_variant,23.1,0.000018831,EXAC_NFE_AF,COL2A1
287126,12:48375178:C>G,NM_001844.4:c.2411G>C,NP_001835.3:p.Gly804Ala,37/54,\N,Pathogenic,Hypochondrogenesis,missense_variant&splice_region_variant,24.3,\N,\N,COL2A1
287127,12:48375182:G>A,NM_001844.4:c.2410-3C>T,\N,\N,36/53,Unknown significance,\N,splice_region_variant&intron_variant,8.662,0.0000196541,EXAC_NFE_AF,COL2A1
287128,12:48375186:G>A,NM_001844.4:c.2410-7C>T,\N,\N,36/53,Unknown significance,\N,splice_region_variant&intron_variant,3.532,0.000134553,EXAC_AFR_AF,COL2A1
287129,12:48375192:A>C,NM_001844.4:c.2410-13T>G,\N,\N,36/53,Unknown significance,\N,intron_variant,0.459,0.0031,1KG_SAS_AF,COL2A1
287130,12:48375198:G>T,NM_001844.4:c.2410-19C>A,\N,\N,36/53,Unknown significance,\N,intron_variant,1.073,0.00267618,EXAC_AMR_AF,COL2A1
287131,12:48375199:G>A,NM_001844.4:c.2410-20C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,2.301,0.000143926,EXAC_AFR_AF,COL2A1
287132,12:48375201:A>C,NM_001844.4:c.2410-22T>G,\N,\N,36/53,Unknown significance,\N,intron_variant,1.857,0.000021574,EXAC_NFE_AF,COL2A1
287133,12:48375205:C>G,NM_001844.4:c.2410-26G>C,\N,\N,36/53,Unknown significance,\N,intron_variant,4.006,0.001,1KG_SAS_AF,COL2A1
287134,12:48375209:G>A,NM_001844.4:c.2410-30C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,4.44,0.000301477,EXAC_AFR_AF,COL2A1
287135,12:48375214:G>A,NM_001844.4:c.2410-35C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,5.128,\N,\N,COL2A1
287136,12:48375258:G>T,NM_001844.4:c.2410-79C>A,\N,\N,36/53,Benign,\N,intron_variant,1.857,0.0686,1KG_EUR_AF,COL2A1
287137,12:48375291:C>T,NM_001844.4:c.2410-112G>A,\N,\N,36/53,Unknown significance,\N,intron_variant,5.969,\N,\N,COL2A1
287138,12:48375295:G>GC,NM_001844.4:c.2410-117dup,\N,\N,36/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
287139,12:48375295:G>T,NM_001844.4:c.2410-116C>A,\N,\N,36/53,Unknown significance,\N,intron_variant,1.074,0.002,1KG_EUR_AF,COL2A1
287140,12:48375308:T>TA,NM_001844.4:c.2410-130dup,\N,\N,36/53,Unknown significance,\N,intron_variant,2.527,\N,\N,COL2A1
287141,12:48375312:G>A,NM_001844.4:c.2410-133C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,2.21,0.0014,1KG_AMR_AF,COL2A1
287142,12:48375320:C>T,NM_001844.4:c.2410-141G>A,\N,\N,36/53,Unknown significance,\N,intron_variant,6.178,0.0014,1KG_AMR_AF,COL2A1
287143,12:48375332:C>CTCT,NM_001844.4:c.2410-156_2410-154dup,\N,\N,36/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
287144,12:48375354:G>A,NM_001844.4:c.2410-175C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,4.804,0.0015,1KG_AFR_AF,COL2A1
287145,12:48375382:C>A,NM_001844.4:c.2409+177G>T,\N,\N,36/53,Unknown significance,\N,intron_variant,5.623,0.0008,1KG_AFR_AF,COL2A1
287146,12:48375387:C>T,NM_001844.4:c.2409+172G>A,\N,\N,36/53,Unknown significance,\N,intron_variant,3.752,\N,\N,COL2A1
287147,12:48375403:C>T,NM_001844.4:c.2409+156G>A,\N,\N,36/53,Unknown significance,\N,intron_variant,6.315,\N,\N,COL2A1
287148,12:48375437:C>CT,NM_001844.4:c.2409+121dup,\N,\N,36/53,Benign,\N,intron_variant,2.828,0.4077,1KG_EAS_AF,COL2A1
287149,12:48375451:G>A,NM_001844.4:c.2409+108C>T,\N,\N,36/53,Benign,\N,intron_variant,5.069,0.0686,1KG_EUR_AF,COL2A1
287150,12:48375460:A>G,NM_001844.4:c.2409+99T>C,\N,\N,36/53,Unknown significance,\N,intron_variant,0.917,0.0014,1KG_AMR_AF,COL2A1
287151,12:48375469:G>A,NM_001844.4:c.2409+90C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,4.679,0.001,1KG_EAS_AF,COL2A1
287152,12:48375475:C>G,NM_001844.4:c.2409+84G>C,\N,\N,36/53,Benign,\N,intron_variant,4.302,0.4355,1KG_EAS_AF,COL2A1
287153,12:48375515:T>C,NM_001844.4:c.2409+44A>G,\N,\N,36/53,Unknown significance,\N,intron_variant,2.911,0.000110327,EXAC_NFE_AF,COL2A1
287154,12:48375521:G>A,NM_001844.4:c.2409+38C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,5.863,\N,\N,COL2A1
287155,12:48375529:G>A,NM_001844.4:c.2409+30C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,4.496,\N,\N,COL2A1
287156,12:48375546:A>T,NM_001844.4:c.2409+13T>A,\N,\N,36/53,Unknown significance,\N,intron_variant,5.134,0.000126199,EXAC_SAS_AF,COL2A1
287157,12:48375549:C>T,NM_001844.4:c.2409+10G>A,\N,\N,36/53,Unknown significance,\N,intron_variant,5.95,0.001,1KG_SAS_AF,COL2A1
287158,12:48375550:G>A,NM_001844.4:c.2409+9C>T,\N,\N,36/53,Unknown significance,\N,intron_variant,1.603,0.001,1KG_SAS_AF,COL2A1
287159,12:48375558:C>T,NM_001844.4:c.2409+1G>A,\N,\N,36/53,Unknown significance,\N,splice_donor_variant,25.5,\N,\N,COL2A1
287160,12:48375558:C>A,NM_001844.4:c.2409+1G>T,\N,\N,36/53,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,splice_donor_variant,25.6,\N,\N,COL2A1
287161,12:48375559:C>A,NM_001844.4:c.2409G>T,NP_001835.3:p.Lys803Asn,36/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.4,\N,\N,COL2A1
287162,12:48375561:T>C,NM_001844.4:c.2407A>G,NP_001835.3:p.Lys803Glu,36/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.4,\N,\N,COL2A1
287163,12:48375563:T>A,NM_001844.4:c.2405A>T,NP_001835.3:p.Glu802Val,36/54,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,COL2A1
287164,12:48375564:C>T,NM_001844.4:c.2404G>A,NP_001835.3:p.Glu802Lys,36/54,\N,Unknown significance,\N,missense_variant,24.1,0.000118483,EVS_EA_AF,COL2A1
287165,12:48375565:G>A,NM_001844.4:c.2403C>T,NP_001835.3:p.Gly801=,36/54,\N,Unknown significance,\N,synonymous_variant,9.006,0.00142857,EXAC_EAS_AF,COL2A1
287166,12:48375565:G>C,NM_001844.4:c.2403C>G,NP_001835.3:p.Gly801=,36/54,\N,Unknown significance,\N,synonymous_variant,3.712,0.000118427,EVS_EA_AF,COL2A1
287167,12:48375567:C>T,NM_001844.4:c.2401G>A,NP_001835.3:p.Gly801Ser,36/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,24.5,\N,\N,COL2A1
287168,12:48375568:A>G,NM_001844.4:c.2400T>C,NP_001835.3:p.Asn800=,36/54,\N,Benign,\N,synonymous_variant,0.155,0.570312,EXAC_EAS_AF,COL2A1
287169,12:48375575:C>T,NM_001844.4:c.2393G>A,NP_001835.3:p.Gly798Asp,36/54,\N,Unknown significance,\N,missense_variant,24.8,\N,\N,COL2A1
287170,12:48375581:G>A,NM_001844.4:c.2387C>T,NP_001835.3:p.Pro796Leu,36/54,\N,Unknown significance,\N,missense_variant,25.1,0.000117841,EVS_EA_AF,COL2A1
287171,12:48375585:C>G,NM_001844.4:c.2383G>C,NP_001835.3:p.Gly795Arg,36/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,25.8,\N,\N,COL2A1
287172,12:48375585:CA>C,NM_001844.4:c.2382del,NP_001835.3:p.Gly795AlafsTer86,36/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,29.9,\N,\N,COL2A1
287173,12:48375586:A>T,NM_001844.4:c.2382T>A,NP_001835.3:p.Pro794=,36/54,\N,Unknown significance,\N,synonymous_variant,3.925,0.000232234,EVS_AA_AF,COL2A1
287174,12:48375586:A>AG,NM_001844.4:c.2381dup,NP_001835.3:p.Gly795TrpfsTer6,36/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287175,12:48375586:AG>A,NM_001844.4:c.2381del,NP_001835.3:p.Pro794LeufsTer87,36/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287176,12:48375604:T>G,NM_001844.4:c.2364A>C,NP_001835.3:p.Thr788=,36/54,\N,Unknown significance,\N,synonymous_variant,10.18,0.000106135,EXAC_NFE_AF,COL2A1
287177,12:48375612:C>T,NM_001844.4:c.2356G>A,NP_001835.3:p.Gly786Ser,36/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,26,\N,\N,COL2A1
287178,12:48375616:C>T,NM_001844.4:c.2356-4G>A,\N,\N,35/53,Unknown significance,\N,splice_region_variant&intron_variant,7.664,\N,\N,COL2A1
287179,12:48375617:G>A,NM_001844.4:c.2356-5C>T,\N,\N,35/53,Unknown significance,\N,splice_region_variant&intron_variant,5.912,\N,\N,COL2A1
287180,12:48375658:C>T,NM_001844.4:c.2356-46G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,6.622,\N,\N,COL2A1
287181,12:48375663:A>G,NM_001844.4:c.2356-51T>C,\N,\N,35/53,Unknown significance,\N,intron_variant,1.198,0.000338753,EXAC_AFR_AF,COL2A1
287182,12:48375664:C>T,NM_001844.4:c.2356-52G>A,\N,\N,35/53,Benign,\N,intron_variant,2.218,0.00537634,EXAC_FIN_AF,COL2A1
287183,12:48375665:G>T,NM_001844.4:c.2356-53C>A,\N,\N,35/53,Unknown significance,\N,intron_variant,0.189,\N,\N,COL2A1
287184,12:48375668:C>A,NM_001844.4:c.2356-56G>T,\N,\N,35/53,Benign,\N,intron_variant,6.474,0.0686,1KG_EUR_AF,COL2A1
287185,12:48375673:C>T,NM_001844.4:c.2356-61G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,7.752,0.0015,1KG_AFR_AF,COL2A1
287186,12:48375674:G>A,NM_001844.4:c.2356-62C>T,\N,\N,35/53,Unknown significance,\N,intron_variant,3.281,\N,\N,COL2A1
287187,12:48375674:G>T,NM_001844.4:c.2356-62C>A,\N,\N,35/53,Benign,\N,intron_variant,1.781,0.0103708,EVS_EA_AF,COL2A1
287188,12:48375688:C>T,NM_001844.4:c.2356-76G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,5.687,0.002,1KG_EAS_AF,COL2A1
287189,12:48375695:C>T,NM_001844.4:c.2356-83G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,1.466,\N,\N,COL2A1
287190,12:48375696:G>A,NM_001844.4:c.2356-84C>T,\N,\N,35/53,Unknown significance,\N,intron_variant,4.808,0.001,1KG_EAS_AF,COL2A1
287191,12:48375702:C>G,NM_001844.4:c.2356-90G>C,\N,\N,35/53,Unknown significance,\N,intron_variant,5.074,0.0014,1KG_AMR_AF,COL2A1
287192,12:48375707:G>A,NM_001844.4:c.2356-95C>T,\N,\N,35/53,Benign,\N,intron_variant,3.538,0.0492,1KG_AFR_AF,COL2A1
287193,12:48375717:C>T,NM_001844.4:c.2356-105G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,7.157,0.001,1KG_EUR_AF,COL2A1
287194,12:48375723:C>T,NM_001844.4:c.2356-111G>A,\N,\N,35/53,Benign,\N,intron_variant,3.833,0.008,1KG_EUR_AF,COL2A1
287195,12:48375774:C>G,NM_001844.4:c.2355+116G>C,\N,\N,35/53,Unknown significance,\N,intron_variant,5.507,0.003,1KG_EAS_AF,COL2A1
287196,12:48375774:C>T,NM_001844.4:c.2355+116G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,6.965,\N,\N,COL2A1
287197,12:48375775:G>A,NM_001844.4:c.2355+115C>T,\N,\N,35/53,Unknown significance,\N,intron_variant,4.749,0.004,1KG_EUR_AF,COL2A1
287198,12:48375789:C>A,NM_001844.4:c.2355+101G>T,\N,\N,35/53,Unknown significance,\N,intron_variant,7.913,\N,\N,COL2A1
287199,12:48375803:G>T,NM_001844.4:c.2355+87C>A,\N,\N,35/53,Unknown significance,\N,intron_variant,1.797,\N,\N,COL2A1
287200,12:48375822:C>T,NM_001844.4:c.2355+68G>A,\N,\N,35/53,Benign,\N,intron_variant,2.297,0.0686,1KG_EUR_AF,COL2A1
287201,12:48375824:C>A,NM_001844.4:c.2355+66G>T,\N,\N,35/53,Unknown significance,\N,intron_variant,6.721,0.0014,1KG_AMR_AF,COL2A1
287202,12:48375824:C>G,NM_001844.4:c.2355+66G>C,\N,\N,35/53,Unknown significance,\N,intron_variant,5.129,\N,\N,COL2A1
287203,12:48375830:C>T,NM_001844.4:c.2355+60G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,2.738,0.003,1KG_EAS_AF,COL2A1
287204,12:48375840:C>T,NM_001844.4:c.2355+50G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,4.567,0.000116279,EVS_EA_AF,COL2A1
287205,12:48375843:G>C,NM_001844.4:c.2355+47C>G,\N,\N,35/53,Unknown significance,\N,intron_variant,0.16,0.0031,1KG_SAS_AF,COL2A1
287206,12:48375853:C>G,NM_001844.4:c.2355+37G>C,\N,\N,35/53,Unknown significance,\N,intron_variant,2.539,0.0000961538,EXAC_AFR_AF,COL2A1
287207,12:48375856:AT>A,NM_001844.4:c.2355+33del,\N,\N,35/53,Unknown significance,\N,intron_variant,2.84,0.0000961354,EXAC_AFR_AF,COL2A1
287208,12:48375868:C>A,NM_001844.4:c.2355+22G>T,\N,\N,35/53,Unknown significance,\N,intron_variant,5.776,0.0000863856,EXAC_AMR_AF,COL2A1
287209,12:48375870:A>G,NM_001844.4:c.2355+20T>C,\N,\N,35/53,Unknown significance,\N,intron_variant,0.53,0.000014988,EXAC_NFE_AF,COL2A1
287210,12:48375874:G>A,NM_001844.4:c.2355+16C>T,\N,\N,35/53,Unknown significance,\N,intron_variant,1.143,0.0000149876,EXAC_NFE_AF,COL2A1
287211,12:48375875:C>T,NM_001844.4:c.2355+15G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,5.022,0.0000149876,EXAC_NFE_AF,COL2A1
287212,12:48375877:C>T,NM_001844.4:c.2355+13G>A,\N,\N,35/53,Unknown significance,\N,intron_variant,1.7,0.000121124,EXAC_SAS_AF,COL2A1
287213,12:48375878:G>A,NM_001844.4:c.2355+12C>T,\N,\N,35/53,Unknown significance,\N,intron_variant,4.122,0.000302389,EXAC_FIN_AF,COL2A1
287214,12:48375885:C>T,NM_001844.4:c.2355+5G>A,\N,\N,35/53,Pathogenic,Stickler syndrome,splice_region_variant&intron_variant,21.2,\N,\N,COL2A1
287215,12:48375889:C>T,NM_001844.4:c.2355+1G>A,\N,\N,35/53,Pathogenic,Stickler syndrome,splice_donor_variant,28.2,\N,\N,COL2A1
287216,12:48375891:C>G,NM_001844.4:c.2354G>C,NP_001835.3:p.Arg785Pro,35/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.1,0.0000149876,EXAC_NFE_AF,COL2A1
287217,12:48375891:C>T,NM_001844.4:c.2354G>A,NP_001835.3:p.Arg785Gln,35/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.3,0.000462321,EXAC_EAS_AF,COL2A1
287218,12:48375892:G>A,NM_001844.4:c.2353C>T,NP_001835.3:p.Arg785Ter,35/54,\N,Pathogenic,Stickler syndrome,stop_gained&splice_region_variant,39,\N,\N,COL2A1
287219,12:48375900:T>C,NM_001844.4:c.2345A>G,NP_001835.3:p.Asp782Gly,35/54,\N,Unknown significance,\N,missense_variant,32,0.0000863707,EXAC_AMR_AF,COL2A1
287220,12:48375901:C>T,NM_001844.4:c.2344G>A,NP_001835.3:p.Asp782Asn,35/54,\N,Unknown significance,\N,missense_variant,34,0.000014988,EXAC_NFE_AF,COL2A1
287221,12:48375907:C>T,NM_001844.4:c.2338G>A,NP_001835.3:p.Gly780Arg,35/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,34,\N,\N,COL2A1
287222,12:48375911:G>A,NM_001844.4:c.2334C>T,NP_001835.3:p.Ala778=,35/54,\N,Benign,\N,synonymous_variant,11.94,0.00511628,EVS_EA_AF,COL2A1
287223,12:48375912:G>A,NM_001844.4:c.2333C>T,NP_001835.3:p.Ala778Val,35/54,\N,Unknown significance,\N,missense_variant,26.7,0.00011558,EXAC_EAS_AF,COL2A1
287224,12:48375913:C>T,NM_001844.4:c.2332G>A,NP_001835.3:p.Ala778Thr,35/54,\N,Unknown significance,\N,missense_variant,25.5,0.000060562,EXAC_SAS_AF,COL2A1
287225,12:48375925:C>T,NM_001844.4:c.2320G>A,NP_001835.3:p.Gly774Ser,35/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,34,\N,\N,COL2A1
287226,12:48375933:C>A,NM_001844.4:c.2312G>T,NP_001835.3:p.Gly771Val,35/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,34,\N,\N,COL2A1
287227,12:48375933:C>G,NM_001844.4:c.2312G>C,NP_001835.3:p.Gly771Ala,35/54,\N,Pathogenic,Achondrogenesis II-hypochondrogenesis,missense_variant,28.8,\N,\N,COL2A1
287228,12:48375933:C>T,NM_001844.4:c.2312G>A,NP_001835.3:p.Gly771Asp,35/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,33,\N,\N,COL2A1
287229,12:48375936:A>C,NM_001844.4:c.2309T>G,NP_001835.3:p.Val770Gly,35/54,\N,Unknown significance,\N,missense_variant,23.1,0.0000149889,EXAC_NFE_AF,COL2A1
287230,12:48375937:C>A,NM_001844.4:c.2308G>T,NP_001835.3:p.Val770Phe,35/54,\N,Unknown significance,\N,missense_variant,27.7,\N,\N,COL2A1
287231,12:48375937:C>T,NM_001844.4:c.2308G>A,NP_001835.3:p.Val770Ile,35/54,\N,Likely benign,\N,missense_variant,22.6,0.0000149907,EXAC_NFE_AF,COL2A1
287232,12:48375938:G>A,NM_001844.4:c.2307C>T,NP_001835.3:p.Asp769=,35/54,\N,Unknown significance,\N,synonymous_variant,11.96,0.000116279,EVS_EA_AF,COL2A1
287233,12:48375940:C>T,NM_001844.4:c.2305G>A,NP_001835.3:p.Asp769Asn,35/54,\N,Unknown significance,\N,missense_variant,32,\N,\N,COL2A1
287234,12:48375942:C>T,NM_001844.4:c.2303G>A,NP_001835.3:p.Gly768Asp,35/54,\N,Pathogenic,Achondrogenesis 2,missense_variant&splice_region_variant,32,\N,\N,COL2A1
287235,12:48375950:G>A,NM_001844.4:c.2302-7C>T,\N,\N,34/53,Unknown significance,\N,splice_region_variant&intron_variant,1.632,0.000115634,EXAC_EAS_AF,COL2A1
287236,12:48375953:G>A,NM_001844.4:c.2302-10C>T,\N,\N,34/53,Unknown significance,\N,intron_variant,3.997,0.001,1KG_EAS_AF,COL2A1
287237,12:48375953:G>C,NM_001844.4:c.2302-10C>G,\N,\N,34/53,Unknown significance,\N,intron_variant,0.937,0.0000149979,EXAC_NFE_AF,COL2A1
287238,12:48375959:A>C,NM_001844.4:c.2302-16T>G,\N,\N,34/53,Unknown significance,\N,intron_variant,1.036,\N,\N,COL2A1
287239,12:48375963:G>A,NM_001844.4:c.2302-20C>T,\N,\N,34/53,Unknown significance,\N,intron_variant,2.361,0.000192308,EXAC_AFR_AF,COL2A1
287240,12:48375965:C>T,NM_001844.4:c.2302-22G>A,\N,\N,34/53,Benign,\N,intron_variant,4.782,0.593808,EXAC_EAS_AF,COL2A1
287241,12:48375966:G>A,NM_001844.4:c.2302-23C>T,\N,\N,34/53,Unknown significance,\N,intron_variant,1.165,0.000121153,EXAC_SAS_AF,COL2A1
287242,12:48375968:C>T,NM_001844.4:c.2302-25G>A,\N,\N,34/53,Benign,\N,intron_variant,6.085,0.00658193,EVS_AA_AF,COL2A1
287243,12:48375974:C>G,NM_001844.4:c.2302-31G>C,\N,\N,34/53,Unknown significance,\N,intron_variant,2.426,\N,\N,COL2A1
287244,12:48375974:C>T,NM_001844.4:c.2302-31G>A,\N,\N,34/53,Unknown significance,\N,intron_variant,3.643,0.0000864603,EXAC_AMR_AF,COL2A1
287245,12:48375975:A>G,NM_001844.4:c.2302-32T>C,\N,\N,34/53,Benign,\N,intron_variant,5.913,0.597326,EXAC_EAS_AF,COL2A1
287246,12:48375983:C>G,NM_001844.4:c.2302-40G>C,\N,\N,34/53,Unknown significance,\N,intron_variant,3.967,0.0008,1KG_AFR_AF,COL2A1
287247,12:48375984:A>T,NM_001844.4:c.2302-41T>A,\N,\N,34/53,Unknown significance,\N,intron_variant,4.288,\N,\N,COL2A1
287248,12:48375988:C>T,NM_001844.4:c.2302-45G>A,\N,\N,34/53,Unknown significance,\N,intron_variant,2.804,0.0000605987,EXAC_SAS_AF,COL2A1
287249,12:48375989:C>T,NM_001844.4:c.2302-46G>A,\N,\N,34/53,Unknown significance,\N,intron_variant,4.432,0.000116279,EVS_EA_AF,COL2A1
287250,12:48376041:C>A,NM_001844.4:c.2302-98G>T,\N,\N,34/53,Unknown significance,\N,intron_variant,6.372,\N,\N,COL2A1
287251,12:48376052:A>G,NM_001844.4:c.2302-109T>C,\N,\N,34/53,Unknown significance,\N,intron_variant,3.333,0.0014,1KG_AMR_AF,COL2A1
287252,12:48376059:T>C,NM_001844.4:c.2302-116A>G,\N,\N,34/53,Unknown significance,\N,intron_variant,7.745,0.0015,1KG_AFR_AF,COL2A1
287253,12:48376076:G>A,NM_001844.4:c.2302-133C>T,\N,\N,34/53,Benign,\N,intron_variant,8.212,0.0686,1KG_EUR_AF,COL2A1
287254,12:48376112:G>T,NM_001844.4:c.2302-169C>A,\N,\N,34/53,Unknown significance,\N,intron_variant,4.861,\N,\N,COL2A1
287255,12:48376137:G>A,NM_001844.4:c.2301+148C>T,\N,\N,34/53,Benign,\N,intron_variant,11.49,0.5565,1KG_EAS_AF,COL2A1
287256,12:48376152:G>A,NM_001844.4:c.2301+133C>T,\N,\N,34/53,Unknown significance,\N,intron_variant,4.484,0.0008,1KG_AFR_AF,COL2A1
287257,12:48376213:G>A,NM_001844.4:c.2301+72C>T,\N,\N,34/53,Benign,\N,intron_variant,6.502,0.3678,1KG_EUR_AF,COL2A1
287258,12:48376218:C>T,NM_001844.4:c.2301+67G>A,\N,\N,34/53,Unknown significance,\N,intron_variant,2.347,0.001,1KG_SAS_AF,COL2A1
287259,12:48376236:A>G,NM_001844.4:c.2301+49T>C,\N,\N,34/53,Unknown significance,\N,intron_variant,5.132,0.000061297,EXAC_SAS_AF,COL2A1
287260,12:48376242:C>T,NM_001844.4:c.2301+43G>A,\N,\N,34/53,Unknown significance,\N,intron_variant,8.115,0.000116279,EVS_EA_AF,COL2A1
287261,12:48376243:A>G,NM_001844.4:c.2301+42T>C,\N,\N,34/53,Unknown significance,\N,intron_variant,3.889,0.001,1KG_EAS_AF,COL2A1
287262,12:48376252:G>A,NM_001844.4:c.2301+33C>T,\N,\N,34/53,Unknown significance,\N,intron_variant,2.374,0.000122549,EXAC_SAS_AF,COL2A1
287263,12:48376258:G>A,NM_001844.4:c.2301+27C>T,\N,\N,34/53,Unknown significance,\N,intron_variant,8.265,0.000309885,EXAC_FIN_AF,COL2A1
287264,12:48376281:T>A,NM_001844.4:c.2301+4A>T,\N,\N,34/53,Unknown significance,\N,splice_region_variant&intron_variant,14.32,0.000097144,EXAC_AFR_AF,COL2A1
287265,12:48376284:C>T,NM_001844.4:c.2301+1G>A,\N,\N,34/53,Pathogenic,Hypochondrogenesis,splice_donor_variant,26,\N,\N,COL2A1
287266,12:48376285:C>T,NM_001844.4:c.2301G>A,NP_001835.3:p.Arg767=,34/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.21,0.0000610128,EXAC_SAS_AF,COL2A1
287267,12:48376291:G>A,NM_001844.4:c.2295C>T,NP_001835.3:p.Gly765=,34/54,\N,Benign,\N,synonymous_variant,8.699,0.596842,EXAC_EAS_AF,COL2A1
287268,12:48376300:C>T,NM_001844.4:c.2286G>A,NP_001835.3:p.Gly762=,34/54,\N,Unknown significance,\N,synonymous_variant,13.95,0.000116279,EVS_EA_AF,COL2A1
287269,12:48376305:C>T,NM_001844.4:c.2281G>A,NP_001835.3:p.Ala761Thr,34/54,\N,Likely benign,\N,missense_variant,22.4,0.0000302444,EXAC_NFE_AF,COL2A1
287270,12:48376306:G>A,NM_001844.4:c.2280C>T,NP_001835.3:p.Ile760=,34/54,\N,Unknown significance,\N,synonymous_variant,14.61,0.0000302425,EXAC_NFE_AF,COL2A1
287271,12:48376310:C>T,NM_001844.4:c.2276G>A,NP_001835.3:p.Gly759Asp,34/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,33,\N,\N,COL2A1
287272,12:48376319:CCCCTCTCG>C,NM_001844.4:c.2259_2266del,NP_001835.3:p.Glu754SerfsTer13,34/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287273,12:48376321:CCT>C,NM_001844.4:c.2263_2264del,NP_001835.3:p.Arg755GlyfsTer14,34/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287274,12:48376327:G>A,NM_001844.4:c.2259C>T,NP_001835.3:p.Gly753=,34/54,\N,Unknown significance,\N,synonymous_variant,14.23,0.0000911162,EXAC_NFE_AF,COL2A1
287275,12:48376328:C>T,NM_001844.4:c.2258G>A,NP_001835.3:p.Gly753Asp,34/54,\N,Pathogenic,Dysspondyloenchondromatosis,missense_variant,33,\N,\N,COL2A1
287276,12:48376330:A>G,NM_001844.4:c.2256T>C,NP_001835.3:p.Pro752=,34/54,\N,Unknown significance,\N,synonymous_variant,4.927,0.0000610426,EXAC_SAS_AF,COL2A1
287277,12:48376337:C>A,NM_001844.4:c.2249G>T,NP_001835.3:p.Gly750Val,34/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,33,\N,\N,COL2A1
287278,12:48376348:T>A,NM_001844.4:c.2238A>T,NP_001835.3:p.Pro746=,34/54,\N,Unknown significance,\N,synonymous_variant,11.67,0.0000877501,EXAC_AMR_AF,COL2A1
287279,12:48376356:C>T,NM_001844.4:c.2230G>A,NP_001835.3:p.Gly744Ser,34/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,33,\N,\N,COL2A1
287280,12:48376359:G>T,NM_001844.4:c.2227C>A,NP_001835.3:p.Gln743Lys,34/54,\N,Unknown significance,\N,missense_variant,23.4,0.000015626,EXAC_NFE_AF,COL2A1
287281,12:48376360:A>T,NM_001844.4:c.2226T>A,NP_001835.3:p.Ala742=,34/54,\N,Unknown significance,\N,synonymous_variant,5.463,\N,\N,COL2A1
287282,12:48376363:C>G,NM_001844.4:c.2223G>C,NP_001835.3:p.Gly741=,34/54,\N,Unknown significance,\N,synonymous_variant,13.64,\N,\N,COL2A1
287283,12:48376366:A>C,NM_001844.4:c.2220T>G,NP_001835.3:p.Pro740=,34/54,\N,Unknown significance,\N,synonymous_variant,1.319,0.000161603,EXAC_FIN_AF,COL2A1
287284,12:48376366:A>T,NM_001844.4:c.2220T>A,NP_001835.3:p.Pro740=,34/54,\N,Unknown significance,\N,synonymous_variant,1.294,0.000015867,EXAC_NFE_AF,COL2A1
287285,12:48376366:A>AG,NM_001844.4:c.2219dup,NP_001835.3:p.Gly741TrpfsTer29,34/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,34,\N,\N,COL2A1
287286,12:48376367:G>T,NM_001844.4:c.2219C>A,NP_001835.3:p.Pro740His,34/54,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,COL2A1
287287,12:48376368:G>T,NM_001844.4:c.2218C>A,NP_001835.3:p.Pro740Thr,34/54,\N,Likely benign,\N,missense_variant,13.97,0.0000624298,EXAC_SAS_AF,COL2A1
287288,12:48376369:G>A,NM_001844.4:c.2217C>T,NP_001835.3:p.Pro739=,34/54,\N,Unknown significance,\N,synonymous_variant,11.25,0.0000925583,EXAC_AMR_AF,COL2A1
287289,12:48376370:G>A,NM_001844.4:c.2216C>T,NP_001835.3:p.Pro739Leu,34/54,\N,Unknown significance,\N,missense_variant,25.5,0.000062901,EXAC_SAS_AF,COL2A1
287290,12:48376370:G>T,NM_001844.4:c.2216C>A,NP_001835.3:p.Pro739His,34/54,\N,Unknown significance,\N,missense_variant,25.2,0.0000161332,EXAC_NFE_AF,COL2A1
287291,12:48376371:G>A,NM_001844.4:c.2215C>T,NP_001835.3:p.Pro739Ser,34/54,\N,Unknown significance,\N,missense_variant,23.1,0.000093006,EXAC_AMR_AF,COL2A1
287292,12:48376372:G>A,NM_001844.4:c.2214C>T,NP_001835.3:p.Gly738=,34/54,\N,Unknown significance,\N,synonymous_variant,11.98,0.001,1KG_EUR_AF,COL2A1
287293,12:48376372:G>C,NM_001844.4:c.2214C>G,NP_001835.3:p.Gly738=,34/54,\N,Unknown significance,\N,synonymous_variant,9.391,0.000116279,EVS_EA_AF,COL2A1
287294,12:48376379:G>T,NM_001844.4:c.2207C>A,NP_001835.3:p.Pro736Gln,34/54,\N,Unknown significance,\N,missense_variant,25.9,0.0000163972,EXAC_NFE_AF,COL2A1
287295,12:48376381:G>A,NM_001844.4:c.2205C>T,NP_001835.3:p.Gly735=,34/54,\N,Unknown significance,\N,synonymous_variant,11.48,0.000108342,EXAC_AFR_AF,COL2A1
287296,12:48376386:A>T,NM_001844.4:c.2200T>A,NP_001835.3:p.Ser734Thr,34/54,\N,Likely benign,\N,missense_variant,2.643,0.0000333934,EXAC_NFE_AF,COL2A1
287297,12:48376390:AC>A,NM_001844.4:c.2195del,NP_001835.3:p.Gly732ValfsTer56,34/54,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,\N,\N,\N,COL2A1
287298,12:48376393:C>T,NM_001844.4:c.2194-1G>A,\N,\N,33/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,25.3,\N,\N,COL2A1
287299,12:48376397:G>A,NM_001844.4:c.2194-5C>T,\N,\N,33/53,Unknown significance,\N,splice_region_variant&intron_variant,1.4,0.000257931,EXAC_EAS_AF,COL2A1
287300,12:48376398:G>A,NM_001844.4:c.2194-6C>T,\N,\N,33/53,Unknown significance,\N,splice_region_variant&intron_variant,2.773,0.000129366,EXAC_EAS_AF,COL2A1
287301,12:48376400:G>A,NM_001844.4:c.2194-8C>T,\N,\N,33/53,Unknown significance,\N,splice_region_variant&intron_variant,0.091,0.0000174544,EXAC_NFE_AF,COL2A1
287302,12:48376402:G>A,NM_001844.4:c.2194-10C>T,\N,\N,33/53,Unknown significance,\N,intron_variant,3.884,0.00010609,EXAC_AMR_AF,COL2A1
287303,12:48376419:G>A,NM_001844.4:c.2194-27C>T,\N,\N,33/53,Unknown significance,\N,intron_variant,11.25,0.0000681477,EXAC_SAS_AF,COL2A1
287304,12:48376419:G>C,NM_001844.4:c.2194-27C>G,\N,\N,33/53,Unknown significance,\N,intron_variant,9.653,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL2A1
287305,12:48376422:G>A,NM_001844.4:c.2194-30C>T,\N,\N,33/53,Benign,\N,intron_variant,9.621,0.0703,1KG_AFR_AF,COL2A1
287306,12:48376425:G>C,NM_001844.4:c.2194-33C>G,\N,\N,33/53,Unknown significance,\N,intron_variant,2.973,\N,\N,COL2A1
287307,12:48376427:C>T,NM_001844.4:c.2194-35G>A,\N,\N,33/53,Unknown significance,\N,intron_variant,10.11,0.000460193,EXAC_FIN_AF,COL2A1
287308,12:48376432:C>G,NM_001844.4:c.2194-40G>C,\N,\N,33/53,Unknown significance,\N,intron_variant,5.76,0.0000295003,EXAC_NFE_AF,COL2A1
287309,12:48376437:C>T,NM_001844.4:c.2194-45G>A,\N,\N,33/53,Unknown significance,\N,intron_variant,4.867,\N,\N,COL2A1
287310,12:48376442:A>AG,NM_001844.4:c.2194-51_2194-50insC,\N,\N,33/53,Unknown significance,\N,intron_variant,1.033,0.000124069,EXAC_SAS_AF,COL2A1
287311,12:48376443:A>AC,NM_001844.4:c.2194-52dup,\N,\N,33/53,Benign,\N,intron_variant,1.398,0.597655,EXAC_EAS_AF,COL2A1
287312,12:48376443:A>C,NM_001844.4:c.2194-51T>G,\N,\N,33/53,Unknown significance,\N,intron_variant,2.171,0.000074107,EXAC_SAS_AF,COL2A1
287313,12:48376444:C>CA,NM_001844.4:c.2194-53_2194-52insT,\N,\N,33/53,Unknown significance,\N,intron_variant,7.361,\N,\N,COL2A1
287314,12:48376447:A>AG,NM_001844.4:c.2194-56_2194-55insC,\N,\N,33/53,Unknown significance,\N,intron_variant,2.186,\N,\N,COL2A1
287315,12:48376447:A>C,NM_001844.4:c.2194-55T>G,\N,\N,33/53,Unknown significance,\N,intron_variant,0.926,\N,\N,COL2A1
287316,12:48376447:A>CG,NM_001844.4:c.2194-55delinsCG,\N,\N,33/53,Benign,\N,intron_variant,\N,0.5556,1KG_EAS_AF,COL2A1
287317,12:48376447:A>G,NM_001844.4:c.2194-55T>C,\N,\N,33/53,Unknown significance,\N,intron_variant,1.925,\N,\N,COL2A1
287318,12:48376452:C>T,NM_001844.4:c.2194-60G>A,\N,\N,33/53,Unknown significance,\N,intron_variant,1.264,0.001,1KG_EAS_AF,COL2A1
287319,12:48376474:C>A,NM_001844.4:c.2194-82G>T,\N,\N,33/53,Benign,\N,intron_variant,6.913,0.1176,1KG_SAS_AF,COL2A1
287320,12:48376503:C>T,NM_001844.4:c.2194-111G>A,\N,\N,33/53,Benign,\N,intron_variant,3.798,0.5536,1KG_EAS_AF,COL2A1
287321,12:48376519:C>A,NM_001844.4:c.2193+112G>T,\N,\N,33/53,Unknown significance,\N,intron_variant,5.58,0.0008,1KG_AFR_AF,COL2A1
287322,12:48376530:C>A,NM_001844.4:c.2193+101G>T,\N,\N,33/53,Benign,\N,intron_variant,3.406,0.6145,1KG_SAS_AF,COL2A1
287323,12:48376574:G>A,NM_001844.4:c.2193+57C>T,\N,\N,33/53,Benign,\N,intron_variant,13.54,0.0686,1KG_EUR_AF,COL2A1
287324,12:48376592:G>C,NM_001844.4:c.2193+39C>G,\N,\N,33/53,Unknown significance,\N,intron_variant,1.071,0.000104254,EXAC_AFR_AF,COL2A1
287325,12:48376599:C>T,NM_001844.4:c.2193+32G>A,\N,\N,33/53,Benign,\N,intron_variant,2.162,0.1258,1KG_SAS_AF,COL2A1
287326,12:48376600:G>A,NM_001844.4:c.2193+31C>T,\N,\N,33/53,Unknown significance,\N,intron_variant,2.773,0.0023,1KG_AFR_AF,COL2A1
287327,12:48376605:C>T,NM_001844.4:c.2193+26G>A,\N,\N,33/53,Unknown significance,\N,intron_variant,6.074,0.0000606428,EXAC_SAS_AF,COL2A1
287328,12:48376608:C>T,NM_001844.4:c.2193+23G>A,\N,\N,33/53,Unknown significance,\N,intron_variant,6.532,0.000116279,EVS_EA_AF,COL2A1
287329,12:48376609:T>A,NM_001844.4:c.2193+22A>T,\N,\N,33/53,Unknown significance,\N,intron_variant,5.081,0.0000155299,EXAC_NFE_AF,COL2A1
287330,12:48376609:T>C,NM_001844.4:c.2193+22A>G,\N,\N,33/53,Unknown significance,\N,intron_variant,2.888,0.0000869414,EXAC_AMR_AF,COL2A1
287331,12:48376612:A>G,NM_001844.4:c.2193+19T>C,\N,\N,33/53,Unknown significance,\N,intron_variant,3.004,0.0000155241,EXAC_NFE_AF,COL2A1
287332,12:48376612:A>T,NM_001844.4:c.2193+19T>A,\N,\N,33/53,Unknown significance,\N,intron_variant,2.308,\N,\N,COL2A1
287333,12:48376629:A>G,NM_001844.4:c.2193+2T>C,\N,\N,33/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.9,\N,\N,COL2A1
287334,12:48376646:G>T,NM_001844.4:c.2178C>A,NP_001835.3:p.Gly726=,33/54,\N,Unknown significance,\N,synonymous_variant,9.17,0.000102333,EXAC_AFR_AF,COL2A1
287335,12:48376647:C>T,NM_001844.4:c.2177G>A,NP_001835.3:p.Gly726Asp,33/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,34,\N,\N,COL2A1
287336,12:48376655:G>A,NM_001844.4:c.2169C>T,NP_001835.3:p.Gly723=,33/54,\N,Unknown significance,\N,synonymous_variant,11.95,0.001,1KG_EUR_AF,COL2A1
287337,12:48376658:G>A,NM_001844.4:c.2166C>T,NP_001835.3:p.Pro722=,33/54,\N,Unknown significance,\N,synonymous_variant,14.13,0.00111857,EXAC_OTH_AF,COL2A1
287338,12:48376661:G>A,NM_001844.4:c.2163C>T,NP_001835.3:p.Leu721=,33/54,\N,Unknown significance,\N,synonymous_variant,11.47,0.00181796,EXAC_SAS_AF,COL2A1
287339,12:48376664:G>T,NM_001844.4:c.2160C>A,NP_001835.3:p.Gly720=,33/54,\N,Benign,\N,synonymous_variant,10.14,0.0219,1KG_AFR_AF,COL2A1
287340,12:48376668:C>A,NM_001844.4:c.2156G>T,NP_001835.3:p.Arg719Leu,33/54,\N,Unknown significance,\N,missense_variant,35,\N,\N,COL2A1
287341,12:48376668:C>T,NM_001844.4:c.2156G>A,NP_001835.3:p.Arg719His,33/54,\N,Unknown significance,\N,missense_variant,35,0.0008,1KG_AFR_AF,COL2A1
287342,12:48376669:G>A,NM_001844.4:c.2155C>T,NP_001835.3:p.Arg719Cys,33/54,\N,Pathogenic,Osteoarthritis,missense_variant,35,\N,\N,COL2A1
287343,12:48376674:C>A,NM_001844.4:c.2150G>T,NP_001835.3:p.Gly717Val,33/54,\N,Pathogenic,Achondrogenesis II-hypochondrogenesis,missense_variant,33,\N,\N,COL2A1
287344,12:48376675:C>T,NM_001844.4:c.2149G>A,NP_001835.3:p.Gly717Ser,33/54,\N,Pathogenic,Avascular necrosis of the femur head,missense_variant,34,\N,\N,COL2A1
287345,12:48376682:G>A,NM_001844.4:c.2142C>T,NP_001835.3:p.Gly714=,33/54,\N,Unknown significance,\N,synonymous_variant,13.77,0.0000867905,EXAC_AMR_AF,COL2A1
287346,12:48376694:G>A,NM_001844.4:c.2130C>T,NP_001835.3:p.Pro710=,33/54,\N,Benign,\N,synonymous_variant,14.19,0.0121,1KG_AFR_AF,COL2A1
287347,12:48376695:G>A,NM_001844.4:c.2129C>T,NP_001835.3:p.Pro710Leu,33/54,\N,Unknown significance,\N,missense_variant,23.1,0.0000152826,EXAC_NFE_AF,COL2A1
287348,12:48376698:G>A,NM_001844.4:c.2126C>T,NP_001835.3:p.Ser709Phe,33/54,\N,Unknown significance,\N,missense_variant,29,0.0000610762,EXAC_NFE_AF,COL2A1
287349,12:48376708:C>A,NM_001844.4:c.2116G>T,NP_001835.3:p.Glu706Ter,33/54,\N,Pathogenic,Stickler syndrome,stop_gained,41,\N,\N,COL2A1
287350,12:48376720:C>T,NM_001844.4:c.2104G>A,NP_001835.3:p.Gly702Ser,33/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,34,\N,\N,COL2A1
287351,12:48376722:C>T,NM_001844.4:c.2102G>A,NP_001835.3:p.Arg701Gln,33/54,\N,Unknown significance,\N,missense_variant,29.4,0.0000152244,EXAC_NFE_AF,COL2A1
287352,12:48376723:G>A,NM_001844.4:c.2101C>T,NP_001835.3:p.Arg701Ter,33/54,\N,Pathogenic,Stickler syndrome,stop_gained,40,\N,\N,COL2A1
287353,12:48376730:C>T,NM_001844.4:c.2095-1G>A,\N,\N,32/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,26.5,\N,\N,COL2A1
287354,12:48376733:C>A,NM_001844.4:c.2095-4G>T,\N,\N,32/53,Unknown significance,\N,splice_region_variant&intron_variant,6.465,0.000060687,EXAC_SAS_AF,COL2A1
287355,12:48376733:C>T,NM_001844.4:c.2095-4G>A,\N,\N,32/53,Unknown significance,\N,splice_region_variant&intron_variant,6.251,0.0045045,EXAC_OTH_AF,COL2A1
287356,12:48376734:G>A,NM_001844.4:c.2095-5C>T,\N,\N,32/53,Unknown significance,\N,splice_region_variant&intron_variant,7.024,0.000174095,EXAC_AMR_AF,COL2A1
287357,12:48376739:A>G,NM_001844.4:c.2095-10T>C,\N,\N,32/53,Unknown significance,\N,intron_variant,7.596,0.0000606943,EXAC_SAS_AF,COL2A1
287358,12:48376744:C>T,NM_001844.4:c.2095-15G>A,\N,\N,32/53,Unknown significance,\N,intron_variant,8.354,0.000232558,EVS_EA_AF,COL2A1
287359,12:48376745:C>T,NM_001844.4:c.2095-16G>A,\N,\N,32/53,Unknown significance,\N,intron_variant,9.177,0.0000152193,EXAC_NFE_AF,COL2A1
287360,12:48376761:A>G,NM_001844.4:c.2095-32T>C,\N,\N,32/53,Unknown significance,\N,intron_variant,6.796,0.0000152105,EXAC_NFE_AF,COL2A1
287361,12:48376769:T>G,NM_001844.4:c.2095-40A>C,\N,\N,32/53,Unknown significance,\N,intron_variant,6.192,0.0000609385,EXAC_SAS_AF,COL2A1
287362,12:48376770:G>C,NM_001844.4:c.2095-41C>G,\N,\N,32/53,Unknown significance,\N,intron_variant,2.555,0.000116279,EVS_EA_AF,COL2A1
287363,12:48376772:G>A,NM_001844.4:c.2095-43C>T,\N,\N,32/53,Unknown significance,\N,intron_variant,9.908,0.0000761452,EXAC_NFE_AF,COL2A1
287364,12:48376773:G>A,NM_001844.4:c.2095-44C>T,\N,\N,32/53,Unknown significance,\N,intron_variant,10.83,0.0000152267,EXAC_NFE_AF,COL2A1
287365,12:48376773:G>T,NM_001844.4:c.2095-44C>A,\N,\N,32/53,Benign,\N,intron_variant,9.613,0.0058,1KG_AMR_AF,COL2A1
287366,12:48376776:G>A,NM_001844.4:c.2095-47C>T,\N,\N,32/53,Unknown significance,\N,intron_variant,11.53,0.000227169,EVS_AA_AF,COL2A1
287367,12:48376780:G>C,NM_001844.4:c.2095-51C>G,\N,\N,32/53,Unknown significance,\N,intron_variant,7.647,0.0000152124,EXAC_NFE_AF,COL2A1
287368,12:48376805:G>C,NM_001844.4:c.2094+71C>G,\N,\N,32/53,Unknown significance,\N,intron_variant,1.566,0.001,1KG_EUR_AF,COL2A1
287369,12:48376820:A>T,NM_001844.4:c.2094+56T>A,\N,\N,32/53,Unknown significance,\N,intron_variant,1.236,0.001,1KG_EAS_AF,COL2A1
287370,12:48376828:C>A,NM_001844.4:c.2094+48G>T,\N,\N,32/53,Unknown significance,\N,intron_variant,6.205,0.000465224,EVS_EA_AF,COL2A1
287371,12:48376830:G>A,NM_001844.4:c.2094+46C>T,\N,\N,32/53,Unknown significance,\N,intron_variant,7.796,0.0000623752,EXAC_SAS_AF,COL2A1
287372,12:48376834:AGGCCC>A,NM_001844.4:c.2094+37_2094+41del,\N,\N,32/53,Unknown significance,\N,intron_variant,6.455,0.000117619,EXAC_EAS_AF,COL2A1
287373,12:48376840:A>T,NM_001844.4:c.2094+36T>A,\N,\N,32/53,Unknown significance,\N,intron_variant,4.788,0.000117592,EXAC_EAS_AF,COL2A1
287374,12:48376841:A>T,NM_001844.4:c.2094+35T>A,\N,\N,32/53,Unknown significance,\N,intron_variant,4.605,0.000302725,EXAC_AFR_AF,COL2A1
287375,12:48376845:G>A,NM_001844.4:c.2094+31C>T,\N,\N,32/53,Unknown significance,\N,intron_variant,2.818,0.000100969,EXAC_AFR_AF,COL2A1
287376,12:48376849:G>A,NM_001844.4:c.2094+27C>T,\N,\N,32/53,Unknown significance,\N,intron_variant,1.414,0.000116279,EVS_EA_AF,COL2A1
287377,12:48376852:C>T,NM_001844.4:c.2094+24G>A,\N,\N,32/53,Unknown significance,\N,intron_variant,0.974,0.00247525,EXAC_EAS_AF,COL2A1
287378,12:48376853:G>T,NM_001844.4:c.2094+23C>A,\N,\N,32/53,Unknown significance,\N,intron_variant,0.946,0.000117869,EXAC_EAS_AF,COL2A1
287379,12:48376856:T>C,NM_001844.4:c.2094+20A>G,\N,\N,32/53,Unknown significance,\N,intron_variant,0.831,0.001,1KG_SAS_AF,COL2A1
287380,12:48376857:T>C,NM_001844.4:c.2094+19A>G,\N,\N,32/53,Unknown significance,\N,intron_variant,1.357,0.001,1KG_EAS_AF,COL2A1
287381,12:48376864:C>G,NM_001844.4:c.2094+12G>C,\N,\N,32/53,Benign,\N,intron_variant,12.43,0.1906,1KG_AFR_AF,COL2A1
287382,12:48376867:G>T,NM_001844.4:c.2094+9C>A,\N,\N,32/53,Unknown significance,\N,intron_variant,13.54,0.0014,1KG_AMR_AF,COL2A1
287383,12:48376868:A>T,NM_001844.4:c.2094+8T>A,\N,\N,32/53,Unknown significance,\N,splice_region_variant&intron_variant,9.978,0.0000628931,EXAC_SAS_AF,COL2A1
287384,12:48376869:T>C,NM_001844.4:c.2094+7A>G,\N,\N,32/53,Benign,\N,splice_region_variant&intron_variant,10.96,0.0790415,EXAC_FIN_AF,COL2A1
287385,12:48376871:C>T,NM_001844.4:c.2094+5G>A,\N,\N,32/53,Unknown significance,\N,splice_region_variant&intron_variant,21.5,0.000103029,EXAC_AFR_AF,COL2A1
287386,12:48376875:C>T,NM_001844.4:c.2094+1G>A,\N,\N,32/53,Pathogenic,Stickler syndrome,splice_donor_variant,28.9,\N,\N,COL2A1
287387,12:48376879:G>C,NM_001844.4:c.2091C>G,NP_001835.3:p.Pro697=,32/54,\N,Unknown significance,\N,synonymous_variant,9.409,0.0000156902,EXAC_NFE_AF,COL2A1
287388,12:48376886:A>G,NM_001844.4:c.2084T>C,NP_001835.3:p.Val695Ala,32/54,\N,Unknown significance,\N,missense_variant,11.96,0.000116279,EVS_EA_AF,COL2A1
287389,12:48376887:C>T,NM_001844.4:c.2083G>A,NP_001835.3:p.Val695Met,32/54,\N,Unknown significance,\N,missense_variant,27.6,\N,\N,COL2A1
287390,12:48376888:G>A,NM_001844.4:c.2082C>T,NP_001835.3:p.Leu694=,32/54,\N,Unknown significance,\N,synonymous_variant,13.63,0.0000315647,EXAC_NFE_AF,COL2A1
287391,12:48376888:G>C,NM_001844.4:c.2082C>G,NP_001835.3:p.Leu694=,32/54,\N,Unknown significance,\N,synonymous_variant,11.3,0.000238379,EXAC_EAS_AF,COL2A1
287392,12:48376896:G>A,NM_001844.4:c.2074C>T,NP_001835.3:p.Pro692Ser,32/54,\N,Unknown significance,\N,missense_variant,22.2,\N,\N,COL2A1
287393,12:48376902:C>T,NM_001844.4:c.2068G>A,NP_001835.3:p.Gly690Arg,32/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,34,\N,\N,COL2A1
287394,12:48376907:T>C,NM_001844.4:c.2063A>G,NP_001835.3:p.Glu688Gly,32/54,\N,Unknown significance,\N,missense_variant,29,0.000096918,EXAC_NFE_AF,COL2A1
287395,12:48376910:C>T,NM_001844.4:c.2060G>A,NP_001835.3:p.Gly687Asp,32/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,34,\N,\N,COL2A1
287396,12:48376911:C>G,NM_001844.4:c.2059G>C,NP_001835.3:p.Gly687Arg,32/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,34,\N,\N,COL2A1
287397,12:48376911:C>T,NM_001844.4:c.2059G>A,NP_001835.3:p.Gly687Ser,32/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,35,\N,\N,COL2A1
287398,12:48376912:G>A,NM_001844.4:c.2058C>T,NP_001835.3:p.Pro686=,32/54,\N,Unknown significance,\N,synonymous_variant,13.88,0.0000945001,EXAC_AMR_AF,COL2A1
287399,12:48376919:C>A,NM_001844.4:c.2051G>T,NP_001835.3:p.Gly684Val,32/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant&splice_region_variant,34,\N,\N,COL2A1
287400,12:48376920:C>G,NM_001844.4:c.2050G>C,NP_001835.3:p.Gly684Arg,32/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant&splice_region_variant,33,\N,\N,COL2A1
287401,12:48376921:C>G,NM_001844.4:c.2050-1G>C,\N,\N,31/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,27.1,\N,\N,COL2A1
287402,12:48376924:G>A,NM_001844.4:c.2050-4C>T,\N,\N,31/53,Unknown significance,\N,splice_region_variant&intron_variant,1.937,0.000227066,EVS_AA_AF,COL2A1
287403,12:48376926:G>A,NM_001844.4:c.2050-6C>T,\N,\N,31/53,Unknown significance,\N,splice_region_variant&intron_variant,6.237,0.000110889,EXAC_AFR_AF,COL2A1
287404,12:48376928:A>G,NM_001844.4:c.2050-8T>C,\N,\N,31/53,Unknown significance,\N,splice_region_variant&intron_variant,5.637,0.00129534,EXAC_OTH_AF,COL2A1
287405,12:48376942:G>A,NM_001844.4:c.2050-22C>T,\N,\N,31/53,Unknown significance,\N,intron_variant,9.368,0.0015,1KG_AFR_AF,COL2A1
287406,12:48376943:TGA>T,NM_001844.4:c.2050-25_2050-24del,\N,\N,31/53,Unknown significance,\N,intron_variant,9.557,0.000135172,EXAC_EAS_AF,COL2A1
287407,12:48376945:A>G,NM_001844.4:c.2050-25T>C,\N,\N,31/53,Unknown significance,\N,intron_variant,8.402,0.000136203,EXAC_EAS_AF,COL2A1
287408,12:48376954:G>A,NM_001844.4:c.2050-34C>T,\N,\N,31/53,Unknown significance,\N,intron_variant,4.774,0.001,1KG_EUR_AF,COL2A1
287409,12:48376955:C>G,NM_001844.4:c.2050-35G>C,\N,\N,31/53,Unknown significance,\N,intron_variant,3.364,0.001,1KG_EUR_AF,COL2A1
287410,12:48376961:A>G,NM_001844.4:c.2050-41T>C,\N,\N,31/53,Unknown significance,\N,intron_variant,4.332,0.000227169,EVS_AA_AF,COL2A1
287411,12:48376964:A>T,NM_001844.4:c.2050-44T>A,\N,\N,31/53,Unknown significance,\N,intron_variant,3.627,0.001,1KG_SAS_AF,COL2A1
287412,12:48376966:A>C,NM_001844.4:c.2050-46T>G,\N,\N,31/53,Unknown significance,\N,intron_variant,3.244,\N,\N,COL2A1
287413,12:48376968:A>C,NM_001844.4:c.2050-48T>G,\N,\N,31/53,Unknown significance,\N,intron_variant,3.635,0.0000734862,EXAC_SAS_AF,COL2A1
287414,12:48376969:C>A,NM_001844.4:c.2050-49G>T,\N,\N,31/53,Benign,\N,intron_variant,6.179,0.364496,EXAC_NFE_AF,COL2A1
287415,12:48376972:C>T,NM_001844.4:c.2050-52G>A,\N,\N,31/53,Unknown significance,\N,intron_variant,4.876,0.0000394073,EXAC_NFE_AF,COL2A1
287416,12:48376984:C>T,NM_001844.4:c.2050-64G>A,\N,\N,31/53,Unknown significance,\N,intron_variant,2.079,\N,\N,COL2A1
287417,12:48377003:C>T,NM_001844.4:c.2050-83G>A,\N,\N,31/53,Unknown significance,\N,intron_variant,3.848,\N,\N,COL2A1
287418,12:48377051:T>C,NM_001844.4:c.2049+117A>G,\N,\N,31/53,Unknown significance,\N,intron_variant,4.135,0.001,1KG_EAS_AF,COL2A1
287419,12:48377106:T>C,NM_001844.4:c.2049+62A>G,\N,\N,31/53,Unknown significance,\N,intron_variant,0.278,\N,\N,COL2A1
287420,12:48377118:A>T,NM_001844.4:c.2049+50T>A,\N,\N,31/53,Unknown significance,\N,intron_variant,1.812,0.0000153718,EXAC_NFE_AF,COL2A1
287421,12:48377123:C>T,NM_001844.4:c.2049+45G>A,\N,\N,31/53,Unknown significance,\N,intron_variant,6.461,0.0024966,EVS_AA_AF,COL2A1
287422,12:48377124:T>C,NM_001844.4:c.2049+44A>G,\N,\N,31/53,Unknown significance,\N,intron_variant,5.282,0.000116279,EVS_EA_AF,COL2A1
287423,12:48377131:C>T,NM_001844.4:c.2049+37G>A,\N,\N,31/53,Unknown significance,\N,intron_variant,10.97,0.00112205,EXAC_SAS_AF,COL2A1
287424,12:48377135:A>G,NM_001844.4:c.2049+33T>C,\N,\N,31/53,Unknown significance,\N,intron_variant,11.19,0.0000153158,EXAC_NFE_AF,COL2A1
287425,12:48377139:G>T,NM_001844.4:c.2049+29C>A,\N,\N,31/53,Unknown significance,\N,intron_variant,12.4,\N,\N,COL2A1
287426,12:48377156:C>T,NM_001844.4:c.2049+12G>A,\N,\N,31/53,Unknown significance,\N,intron_variant,18.32,0.0000617513,EXAC_SAS_AF,COL2A1
287427,12:48377158:C>T,NM_001844.4:c.2049+10G>A,\N,\N,31/53,Unknown significance,\N,intron_variant,17.87,0.001,1KG_SAS_AF,COL2A1
287428,12:48377163:C>G,NM_001844.4:c.2049+5G>C,\N,\N,31/53,Unknown significance,\N,splice_region_variant&intron_variant,19.51,0.000116279,EVS_EA_AF,COL2A1
287429,12:48377165:C>G,NM_001844.4:c.2049+3G>C,\N,\N,31/53,Unknown significance,\N,splice_region_variant&intron_variant,17.02,0.000015157,EXAC_NFE_AF,COL2A1
287430,12:48377171:G>A,NM_001844.4:c.2046C>T,NP_001835.3:p.Asp682=,31/54,\N,Benign,\N,synonymous_variant,9.033,0.0068089,EVS_AA_AF,COL2A1
287431,12:48377171:G>C,NM_001844.4:c.2046C>G,NP_001835.3:p.Asp682Glu,31/54,\N,Likely benign,\N,missense_variant,9.426,0.0000302755,EXAC_NFE_AF,COL2A1
287432,12:48377197:G>T,NM_001844.4:c.2020C>A,NP_001835.3:p.Pro674Thr,31/54,\N,Unknown significance,\N,missense_variant,23.3,0.0000151318,EXAC_NFE_AF,COL2A1
287433,12:48377198:G>T,NM_001844.4:c.2019C>A,NP_001835.3:p.Pro673=,31/54,\N,Unknown significance,\N,synonymous_variant,5.245,0.0000151396,EXAC_NFE_AF,COL2A1
287434,12:48377199:G>A,NM_001844.4:c.2018C>T,NP_001835.3:p.Pro673Leu,31/54,\N,Unknown significance,\N,missense_variant,24.3,0.001,1KG_EUR_AF,COL2A1
287435,12:48377202:C>G,NM_001844.4:c.2015G>C,NP_001835.3:p.Gly672Ala,31/54,\N,Pathogenic,\N,missense_variant,27.6,\N,\N,COL2A1
287436,12:48377203:C>A,NM_001844.4:c.2014G>T,NP_001835.3:p.Gly672Cys,31/54,\N,Pathogenic,Legg-Calve-Perthes-like disease,missense_variant,34,\N,\N,COL2A1
287437,12:48377203:C>T,NM_001844.4:c.2014G>A,NP_001835.3:p.Gly672Ser,31/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,33,\N,\N,COL2A1
287438,12:48377205:G>A,NM_001844.4:c.2012C>T,NP_001835.3:p.Pro671Leu,31/54,\N,Unknown significance,\N,missense_variant,31,0.000061297,EXAC_SAS_AF,COL2A1
287439,12:48377207:A>C,NM_001844.4:c.2010T>G,NP_001835.3:p.Pro670=,31/54,\N,Unknown significance,\N,synonymous_variant,3.167,0.0000613346,EXAC_SAS_AF,COL2A1
287440,12:48377218:G>A,NM_001844.4:c.1999C>T,NP_001835.3:p.Leu667Phe,31/54,\N,Pathogenic,Stickler syndrome,missense_variant,27.5,\N,\N,COL2A1
287441,12:48377218:G>T,NM_001844.4:c.1999C>A,NP_001835.3:p.Leu667Ile,31/54,\N,Unknown significance,\N,missense_variant,24.2,0.000465333,EXAC_EAS_AF,COL2A1
287442,12:48377219:T>C,NM_001844.4:c.1998A>G,NP_001835.3:p.Gly666=,31/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.03,0.001,1KG_EAS_AF,COL2A1
287443,12:48377220:C>T,NM_001844.4:c.1997G>A,NP_001835.3:p.Gly666Glu,31/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,31,0.0000151953,EXAC_NFE_AF,COL2A1
287444,12:48377231:G>A,NM_001844.4:c.1996-10C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,4.391,0.001,1KG_EAS_AF,COL2A1
287445,12:48377233:A>G,NM_001844.4:c.1996-12T>C,\N,\N,30/53,Unknown significance,\N,intron_variant,7.061,0.000117233,EXAC_EAS_AF,COL2A1
287446,12:48377242:C>T,NM_001844.4:c.1996-21G>A,\N,\N,30/53,Unknown significance,\N,intron_variant,0.125,0.000214948,EXAC_NFE_AF,COL2A1
287447,12:48377243:G>A,NM_001844.4:c.1996-22C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,0.475,0.000199561,EXAC_AFR_AF,COL2A1
287448,12:48377246:A>G,NM_001844.4:c.1996-25T>C,\N,\N,30/53,Unknown significance,\N,intron_variant,8.308,0.0000621891,EXAC_SAS_AF,COL2A1
287449,12:48377247:G>A,NM_001844.4:c.1996-26C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,1.46,0.000356379,EXAC_AMR_AF,COL2A1
287450,12:48377254:A>C,NM_001844.4:c.1996-33T>G,\N,\N,30/53,Unknown significance,\N,intron_variant,8.038,0.000625782,EXAC_AMR_AF,COL2A1
287451,12:48377263:G>A,NM_001844.4:c.1996-42C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,11.81,0.000015624,EXAC_NFE_AF,COL2A1
287452,12:48377273:C>A,NM_001844.4:c.1996-52G>T,\N,\N,30/53,Unknown significance,\N,intron_variant,7.291,0.000125094,EXAC_EAS_AF,COL2A1
287453,12:48377273:C>G,NM_001844.4:c.1996-52G>C,\N,\N,30/53,Unknown significance,\N,intron_variant,5.856,0.0000159571,EXAC_NFE_AF,COL2A1
287454,12:48377287:C>T,NM_001844.4:c.1996-66G>A,\N,\N,30/53,Unknown significance,\N,intron_variant,4.281,0.0041,1KG_SAS_AF,COL2A1
287455,12:48377301:C>T,NM_001844.4:c.1996-80G>A,\N,\N,30/53,Unknown significance,\N,intron_variant,3.825,0.002,1KG_SAS_AF,COL2A1
287456,12:48377316:C>T,NM_001844.4:c.1996-95G>A,\N,\N,30/53,Unknown significance,\N,intron_variant,1.848,0.002,1KG_EAS_AF,COL2A1
287457,12:48377346:A>C,NM_001844.4:c.1995+120T>G,\N,\N,30/53,Unknown significance,\N,intron_variant,9.051,0.0023,1KG_AFR_AF,COL2A1
287458,12:48377348:G>A,NM_001844.4:c.1995+118C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,5.027,\N,\N,COL2A1
287459,12:48377352:G>A,NM_001844.4:c.1995+114C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,0.603,0.001,1KG_EAS_AF,COL2A1
287460,12:48377355:G>A,NM_001844.4:c.1995+111C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,4.382,0.0014,1KG_AMR_AF,COL2A1
287461,12:48377359:G>A,NM_001844.4:c.1995+107C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,5.116,\N,\N,COL2A1
287462,12:48377376:G>A,NM_001844.4:c.1995+90C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,4.557,0.004,1KG_EAS_AF,COL2A1
287463,12:48377412:G>A,NM_001844.4:c.1995+54C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,6.128,0.0015,1KG_AFR_AF,COL2A1
287464,12:48377422:G>A,NM_001844.4:c.1995+44C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,3.72,0.000046292,EXAC_NFE_AF,COL2A1
287465,12:48377423:G>C,NM_001844.4:c.1995+43C>G,\N,\N,30/53,Unknown significance,\N,intron_variant,0.557,\N,\N,COL2A1
287466,12:48377434:G>A,NM_001844.4:c.1995+32C>T,\N,\N,30/53,Unknown significance,\N,intron_variant,1.571,0.000406504,EXAC_AMR_AF,COL2A1
287467,12:48377439:C>T,NM_001844.4:c.1995+27G>A,\N,\N,30/53,Unknown significance,\N,intron_variant,0.859,\N,\N,COL2A1
287468,12:48377445:G>T,NM_001844.4:c.1995+21C>A,\N,\N,30/53,Unknown significance,\N,intron_variant,1.408,\N,\N,COL2A1
287469,12:48377449:C>A,NM_001844.4:c.1995+17G>T,\N,\N,30/53,Unknown significance,\N,intron_variant,5.899,\N,\N,COL2A1
287470,12:48377455:C>T,NM_001844.4:c.1995+11G>A,\N,\N,30/53,Unknown significance,\N,intron_variant,13.54,0.0008,1KG_AFR_AF,COL2A1
287471,12:48377463:T>A,NM_001844.4:c.1995+3A>T,\N,\N,30/53,Unknown significance,\N,splice_region_variant&intron_variant,16.65,0.0000409266,EXAC_NFE_AF,COL2A1
287472,12:48377466:C>T,NM_001844.4:c.1995G>A,NP_001835.3:p.Gln665=,30/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.44,0.000105753,EXAC_SAS_AF,COL2A1
287473,12:48377486:G>A,NM_001844.4:c.1975C>T,NP_001835.3:p.Pro659Ser,30/54,\N,Unknown significance,\N,missense_variant,24.7,0.000207727,EXAC_AFR_AF,COL2A1
287474,12:48377490:AC>A,NM_001844.4:c.1970del,NP_001835.3:p.Gly657ValfsTer131,30/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287475,12:48377499:G>A,NM_001844.4:c.1962C>T,NP_001835.3:p.Gly654=,30/54,\N,Pathogenic,Stickler syndrome,synonymous_variant,15.68,\N,\N,COL2A1
287476,12:48377501:C>T,NM_001844.4:c.1960G>A,NP_001835.3:p.Gly654Ser,30/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,34,\N,\N,COL2A1
287477,12:48377504:G>A,NM_001844.4:c.1957C>T,NP_001835.3:p.Arg653Ter,30/54,\N,Pathogenic,Stickler syndrome,stop_gained,41,\N,\N,COL2A1
287478,12:48377516:G>T,NM_001844.4:c.1945C>A,NP_001835.3:p.Pro649Thr,30/54,\N,Unknown significance,\N,missense_variant,23.6,0.000111433,EXAC_SAS_AF,COL2A1
287479,12:48377517:T>C,NM_001844.4:c.1944A>G,NP_001835.3:p.Gly648=,30/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.01,0.000893655,EXAC_AMR_AF,COL2A1
287480,12:48377517:T>TC,NM_001844.4:c.1943dup,NP_001835.3:p.Pro649ThrfsTer4,30/54,\N,Pathogenic,Stickler syndrome,frameshift_variant&splice_region_variant,35,\N,\N,COL2A1
287481,12:48377521:T>C,NM_001844.4:c.1942-2A>G,\N,\N,29/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,25.5,\N,\N,COL2A1
287482,12:48377523:C>A,NM_001844.4:c.1942-4G>T,\N,\N,29/53,Unknown significance,\N,splice_region_variant&intron_variant,14.64,0.0008,1KG_AFR_AF,COL2A1
287483,12:48377525:G>A,NM_001844.4:c.1942-6C>T,\N,\N,29/53,Unknown significance,\N,splice_region_variant&intron_variant,11.12,\N,\N,COL2A1
287484,12:48377541:G>A,NM_001844.4:c.1942-22C>T,\N,\N,29/53,Unknown significance,\N,intron_variant,5.316,0.00107181,EXAC_AFR_AF,COL2A1
287485,12:48377552:G>A,NM_001844.4:c.1942-33C>T,\N,\N,29/53,Unknown significance,\N,intron_variant,6.261,\N,\N,COL2A1
287486,12:48377554:G>A,NM_001844.4:c.1942-35C>T,\N,\N,29/53,Unknown significance,\N,intron_variant,5.518,0.000116686,EVS_EA_AF,COL2A1
287487,12:48377556:T>C,NM_001844.4:c.1942-37A>G,\N,\N,29/53,Unknown significance,\N,intron_variant,5.178,0.000116713,EVS_EA_AF,COL2A1
287488,12:48377570:G>C,NM_001844.4:c.1942-51C>G,\N,\N,29/53,Unknown significance,\N,intron_variant,7.28,0.000124008,EXAC_SAS_AF,COL2A1
287489,12:48377587:G>T,NM_001844.4:c.1942-68C>A,\N,\N,29/53,Unknown significance,\N,intron_variant,0.963,0.000314268,EVS_EA_AF,COL2A1
287490,12:48377591:A>AG,NM_001844.4:c.1942-73dup,\N,\N,29/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
287491,12:48377622:G>A,NM_001844.4:c.1942-103C>T,\N,\N,29/53,Unknown significance,\N,intron_variant,2.342,0.0031,1KG_SAS_AF,COL2A1
287492,12:48377630:G>A,NM_001844.4:c.1942-111C>T,\N,\N,29/53,Unknown significance,\N,intron_variant,3.792,0.001,1KG_SAS_AF,COL2A1
287493,12:48377635:A>G,NM_001844.4:c.1942-116T>C,\N,\N,29/53,Benign,\N,intron_variant,6.16,0.0736,1KG_EUR_AF,COL2A1
287494,12:48377642:C>T,NM_001844.4:c.1942-123G>A,\N,\N,29/53,Unknown significance,\N,intron_variant,4.113,0.0023,1KG_AFR_AF,COL2A1
287495,12:48377653:T>A,NM_001844.4:c.1942-134A>T,\N,\N,29/53,Benign,\N,intron_variant,5.411,0.1176,1KG_SAS_AF,COL2A1
287496,12:48377714:C>T,NM_001844.4:c.1941+156G>A,\N,\N,29/53,Unknown significance,\N,intron_variant,10.27,0.0038,1KG_AFR_AF,COL2A1
287497,12:48377718:T>C,NM_001844.4:c.1941+152A>G,\N,\N,29/53,Benign,\N,intron_variant,2.985,0.0726,1KG_EUR_AF,COL2A1
287498,12:48377756:T>C,NM_001844.4:c.1941+114A>G,\N,\N,29/53,Benign,\N,intron_variant,3.037,0.0726,1KG_EUR_AF,COL2A1
287499,12:48377810:C>T,NM_001844.4:c.1941+60G>A,\N,\N,29/53,Unknown significance,\N,intron_variant,4.985,0.001,1KG_SAS_AF,COL2A1
287500,12:48377819:C>T,NM_001844.4:c.1941+51G>A,\N,\N,29/53,Unknown significance,\N,intron_variant,3.396,0.000088663,EXAC_NFE_AF,COL2A1
287501,12:48377823:C>T,NM_001844.4:c.1941+47G>A,\N,\N,29/53,Unknown significance,\N,intron_variant,8.19,0.000117813,EVS_EA_AF,COL2A1
287502,12:48377827:C>T,NM_001844.4:c.1941+43G>A,\N,\N,29/53,Unknown significance,\N,intron_variant,12.14,0.0000571723,EXAC_NFE_AF,COL2A1
287503,12:48377832:C>A,NM_001844.4:c.1941+38G>T,\N,\N,29/53,Unknown significance,\N,intron_variant,11.98,\N,\N,COL2A1
287504,12:48377835:C>T,NM_001844.4:c.1941+35G>A,\N,\N,29/53,Unknown significance,\N,intron_variant,3.03,0.000174825,EXAC_EAS_AF,COL2A1
287505,12:48377845:C>CT,NM_001844.4:c.1941+24dup,\N,\N,29/53,Unknown significance,\N,intron_variant,5.046,0.000024867,EXAC_NFE_AF,COL2A1
287506,12:48377852:G>A,NM_001844.4:c.1941+18C>T,\N,\N,29/53,Unknown significance,\N,intron_variant,4.907,0.0000686248,EXAC_NFE_AF,COL2A1
287507,12:48377853:G>C,NM_001844.4:c.1941+17C>G,\N,\N,29/53,Unknown significance,\N,intron_variant,2.403,0.000618238,EXAC_EAS_AF,COL2A1
287508,12:48377853:G>T,NM_001844.4:c.1941+17C>A,\N,\N,29/53,Unknown significance,\N,intron_variant,3.59,0.000129803,EXAC_AMR_AF,COL2A1
287509,12:48377856:G>A,NM_001844.4:c.1941+14C>T,\N,\N,29/53,Benign,\N,intron_variant,1.459,0.0109,1KG_EAS_AF,COL2A1
287510,12:48377869:C>T,NM_001844.4:c.1941+1G>A,\N,\N,29/53,Pathogenic,Stickler syndrome,splice_donor_variant,26.1,\N,\N,COL2A1
287511,12:48377872:C>T,NM_001844.4:c.1939G>A,NP_001835.3:p.Ala647Thr,29/54,\N,Likely benign,\N,missense_variant&splice_region_variant,22.5,0.0000183938,EXAC_NFE_AF,COL2A1
287512,12:48377873:A>G,NM_001844.4:c.1938T>C,NP_001835.3:p.Pro646=,29/54,\N,Unknown significance,\N,synonymous_variant,3.947,0.000116279,EVS_EA_AF,COL2A1
287513,12:48377879:AG>A,NM_001844.4:c.1931del,NP_001835.3:p.Pro644LeufsTer144,29/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,34,\N,\N,COL2A1
287514,12:48377882:G>T,NM_001844.4:c.1929C>A,NP_001835.3:p.Pro643=,29/54,\N,Unknown significance,\N,synonymous_variant,7.189,0.000234852,EXAC_AFR_AF,COL2A1
287515,12:48377885:T>A,NM_001844.4:c.1926A>T,NP_001835.3:p.Gly642=,29/54,\N,Unknown significance,\N,synonymous_variant,8.334,0.000226963,EVS_AA_AF,COL2A1
287516,12:48377887:C>A,NM_001844.4:c.1924G>T,NP_001835.3:p.Gly642Ter,29/54,\N,Pathogenic,STICKLER SYNDROME| TYPE I| NONSYNDROMIC OCULAR,stop_gained,38,\N,\N,COL2A1
287517,12:48377898:G>A,NM_001844.4:c.1913C>T,NP_001835.3:p.Thr638Ile,29/54,\N,Benign,\N,missense_variant,24.3,0.0307167,EXAC_EAS_AF,COL2A1
287518,12:48377900:C>T,NM_001844.4:c.1911G>A,NP_001835.3:p.Glu637=,29/54,\N,Unknown significance,\N,synonymous_variant,14.89,0.000622062,EXAC_SAS_AF,COL2A1
287519,12:48377902:CA>C,NM_001844.4:c.1908del,NP_001835.3:p.Glu637ArgfsTer151,29/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,27.2,\N,\N,COL2A1
287520,12:48377912:G>T,NM_001844.4:c.1899C>A,NP_001835.3:p.Gly633=,29/54,\N,Unknown significance,\N,synonymous_variant,8.762,0.0000164636,EXAC_NFE_AF,COL2A1
287521,12:48377923:C>T,NM_001844.4:c.1888G>A,NP_001835.3:p.Gly630Ser,29/54,\N,Pathogenic,Legg-Calve-Perthes disease,missense_variant&splice_region_variant,33,\N,\N,COL2A1
287522,12:48377924:C>G,NM_001844.4:c.1888-1G>C,\N,\N,28/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,26.2,\N,\N,COL2A1
287523,12:48377925:T>C,NM_001844.4:c.1888-2A>G,\N,\N,28/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,24.7,\N,\N,COL2A1
287524,12:48377929:C>T,NM_001844.4:c.1888-6G>A,\N,\N,28/53,Unknown significance,\N,splice_region_variant&intron_variant,5.375,\N,\N,COL2A1
287525,12:48377931:G>A,NM_001844.4:c.1888-8C>T,\N,\N,28/53,Unknown significance,\N,splice_region_variant&intron_variant,3.5,\N,\N,COL2A1
287526,12:48377934:G>A,NM_001844.4:c.1888-11C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,3.906,0.000226963,EVS_AA_AF,COL2A1
287527,12:48377945:A>C,NM_001844.4:c.1888-22T>G,\N,\N,28/53,Unknown significance,\N,intron_variant,0.582,0.0000168498,EXAC_NFE_AF,COL2A1
287528,12:48377947:G>T,NM_001844.4:c.1888-24C>A,\N,\N,28/53,Benign,\N,intron_variant,0.626,0.095526,EXAC_FIN_AF,COL2A1
287529,12:48377954:A>G,NM_001844.4:c.1888-31T>C,\N,\N,28/53,Unknown significance,\N,intron_variant,6.26,\N,\N,COL2A1
287530,12:48377956:A>G,NM_001844.4:c.1888-33T>C,\N,\N,28/53,Unknown significance,\N,intron_variant,2.728,0.00165969,EXAC_SAS_AF,COL2A1
287531,12:48377956:A>T,NM_001844.4:c.1888-33T>A,\N,\N,28/53,Unknown significance,\N,intron_variant,1.552,0.0000175088,EXAC_NFE_AF,COL2A1
287532,12:48377957:C>T,NM_001844.4:c.1888-34G>A,\N,\N,28/53,Benign,\N,intron_variant,2.261,0.0201997,EVS_AA_AF,COL2A1
287533,12:48377958:G>A,NM_001844.4:c.1888-35C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,2.285,0.0008,1KG_AFR_AF,COL2A1
287534,12:48377964:C>T,NM_001844.4:c.1888-41G>A,\N,\N,28/53,Unknown significance,\N,intron_variant,1.613,0.0008,1KG_AFR_AF,COL2A1
287535,12:48377968:C>A,NM_001844.4:c.1888-45G>T,\N,\N,28/53,Unknown significance,\N,intron_variant,1.699,0.0000783453,EXAC_SAS_AF,COL2A1
287536,12:48377970:A>G,NM_001844.4:c.1888-47T>C,\N,\N,28/53,Benign,\N,intron_variant,2.806,0.835,1KG_EUR_AF,COL2A1
287537,12:48377975:C>A,NM_001844.4:c.1888-52G>T,\N,\N,28/53,Unknown significance,\N,intron_variant,0.097,0.0000232656,EXAC_NFE_AF,COL2A1
287538,12:48377989:T>C,NM_001844.4:c.1888-66A>G,\N,\N,28/53,Unknown significance,\N,intron_variant,3.548,0.0008,1KG_AFR_AF,COL2A1
287539,12:48378031:G>A,NM_001844.4:c.1888-108C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,2.488,0.0008,1KG_AFR_AF,COL2A1
287540,12:48378039:A>G,NM_001844.4:c.1888-116T>C,\N,\N,28/53,Unknown significance,\N,intron_variant,4.677,0.002,1KG_EAS_AF,COL2A1
287541,12:48378041:C>A,NM_001844.4:c.1888-118G>T,\N,\N,28/53,Unknown significance,\N,intron_variant,4.025,\N,\N,COL2A1
287542,12:48378061:T>C,NM_001844.4:c.1888-138A>G,\N,\N,28/53,Unknown significance,\N,intron_variant,1.452,\N,\N,COL2A1
287543,12:48378114:A>G,NM_001844.4:c.1888-191T>C,\N,\N,28/53,Unknown significance,\N,intron_variant,5.922,\N,\N,COL2A1
287544,12:48378135:C>A,NM_001844.4:c.1887+194G>T,\N,\N,28/53,Unknown significance,\N,intron_variant,7.849,0.0008,1KG_AFR_AF,COL2A1
287545,12:48378155:A>T,NM_001844.4:c.1887+174T>A,\N,\N,28/53,Unknown significance,\N,intron_variant,3.08,\N,\N,COL2A1
287546,12:48378193:G>A,NM_001844.4:c.1887+136C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,4.709,0.002,1KG_EAS_AF|1KG_SAS_AF,COL2A1
287547,12:48378195:A>C,NM_001844.4:c.1887+134T>G,\N,\N,28/53,Unknown significance,\N,intron_variant,3.657,0.0014,1KG_AMR_AF,COL2A1
287548,12:48378215:T>C,NM_001844.4:c.1887+114A>G,\N,\N,28/53,Unknown significance,\N,intron_variant,4.59,0.0008,1KG_AFR_AF,COL2A1
287549,12:48378236:T>A,NM_001844.4:c.1887+93A>T,\N,\N,28/53,Unknown significance,\N,intron_variant,3.729,0.001,1KG_EAS_AF,COL2A1
287550,12:48378253:G>A,NM_001844.4:c.1887+76C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,4.205,0.001,1KG_EUR_AF,COL2A1
287551,12:48378288:C>T,NM_001844.4:c.1887+41G>A,\N,\N,28/53,Unknown significance,\N,intron_variant,3.233,0.0008,1KG_AFR_AF,COL2A1
287552,12:48378289:G>A,NM_001844.4:c.1887+40C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,1.482,0.000797253,EXAC_SAS_AF,COL2A1
287553,12:48378294:A>C,NM_001844.4:c.1887+35T>G,\N,\N,28/53,Unknown significance,\N,intron_variant,5.257,\N,\N,COL2A1
287554,12:48378297:C>A,NM_001844.4:c.1887+32G>T,\N,\N,28/53,Unknown significance,\N,intron_variant,5.154,\N,\N,COL2A1
287555,12:48378298:C>T,NM_001844.4:c.1887+31G>A,\N,\N,28/53,Unknown significance,\N,intron_variant,5.843,0.000116333,EXAC_EAS_AF,COL2A1
287556,12:48378298:CAA>C,NM_001844.4:c.1887+29_1887+30del,\N,\N,28/53,Unknown significance,\N,intron_variant,6.84,0.000061093,EXAC_NFE_AF,COL2A1
287557,12:48378305:T>A,NM_001844.4:c.1887+24A>T,\N,\N,28/53,Unknown significance,\N,intron_variant,4.581,0.0000152495,EXAC_NFE_AF,COL2A1
287558,12:48378312:C>T,NM_001844.4:c.1887+17G>A,\N,\N,28/53,Unknown significance,\N,intron_variant,2.246,0.000116198,EXAC_EAS_AF,COL2A1
287559,12:48378313:G>A,NM_001844.4:c.1887+16C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,3.804,0.000158579,EXAC_FIN_AF,COL2A1
287560,12:48378320:G>A,NM_001844.4:c.1887+9C>T,\N,\N,28/53,Unknown significance,\N,intron_variant,16.56,0.0000869716,EXAC_AMR_AF,COL2A1
287561,12:48378324:C>G,NM_001844.4:c.1887+5G>C,\N,\N,28/53,Unknown significance,\N,splice_region_variant&intron_variant,17.76,0.0000151699,EXAC_NFE_AF,COL2A1
287562,12:48378327:A>G,NM_001844.4:c.1887+2T>C,\N,\N,28/53,Unknown significance,\N,splice_donor_variant,25.6,0.000116279,EVS_EA_AF,COL2A1
287563,12:48378328:C>T,NM_001844.4:c.1887+1G>A,\N,\N,28/53,Pathogenic,Stickler syndrome,splice_donor_variant,27.5,\N,\N,COL2A1
287564,12:48378341:A>T,NM_001844.4:c.1875T>A,NP_001835.3:p.Ala625=,28/54,\N,Unknown significance,\N,synonymous_variant,8.006,0.000116279,EVS_EA_AF,COL2A1
287565,12:48378345:C>T,NM_001844.4:c.1871G>A,NP_001835.3:p.Gly624Asp,28/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,34,\N,\N,COL2A1
287566,12:48378350:C>T,NM_001844.4:c.1866G>A,NP_001835.3:p.Leu622=,28/54,\N,Unknown significance,\N,synonymous_variant,14.91,0.0000151272,EXAC_NFE_AF,COL2A1
287567,12:48378355:C>T,NM_001844.4:c.1861G>A,NP_001835.3:p.Gly621Arg,28/54,\N,Likely pathogenic,Stickler syndrome type 1,missense_variant,34,\N,\N,COL2A1
287568,12:48378366:G>A,NM_001844.4:c.1850C>T,NP_001835.3:p.Ala617Val,28/54,\N,Unknown significance,\N,missense_variant,23.3,0.0000608791,EXAC_SAS_AF,COL2A1
287569,12:48378379:C>T,NM_001844.4:c.1837G>A,NP_001835.3:p.Glu613Lys,28/54,\N,Unknown significance,\N,missense_variant,23.4,0.0000302994,EXAC_NFE_AF,COL2A1
287570,12:48378380:A>G,NM_001844.4:c.1836T>C,NP_001835.3:p.Gly612=,28/54,\N,Benign,\N,splice_region_variant&synonymous_variant,6.629,0.0857913,EXAC_FIN_AF,COL2A1
287571,12:48378397:G>C,NM_001844.4:c.1834-15C>G,\N,\N,27/53,Unknown significance,\N,intron_variant,0.28,0.000061177,EXAC_SAS_AF,COL2A1
287572,12:48378400:C>T,NM_001844.4:c.1834-18G>A,\N,\N,27/53,Unknown significance,\N,intron_variant,1.743,\N,\N,COL2A1
287573,12:48378403:G>A,NM_001844.4:c.1834-21C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,4.218,0.0000874585,EXAC_AMR_AF,COL2A1
287574,12:48378408:T>A,NM_001844.4:c.1834-26A>T,\N,\N,27/53,Unknown significance,\N,intron_variant,8.59,\N,\N,COL2A1
287575,12:48378413:C>T,NM_001844.4:c.1834-31G>A,\N,\N,27/53,Unknown significance,\N,intron_variant,1.841,0.000175377,EXAC_AMR_AF,COL2A1
287576,12:48378414:G>A,NM_001844.4:c.1834-32C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,0.822,0.000585069,EXAC_EAS_AF,COL2A1
287577,12:48378418:G>C,NM_001844.4:c.1834-36C>G,\N,\N,27/53,Unknown significance,\N,intron_variant,0.876,0.0000878735,EXAC_AMR_AF,COL2A1
287578,12:48378427:G>A,NM_001844.4:c.1834-45C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,5.829,\N,\N,COL2A1
287579,12:48378432:T>A,NM_001844.4:c.1834-50A>T,\N,\N,27/53,Unknown significance,\N,intron_variant,1.008,0.0000155024,EXAC_NFE_AF,COL2A1
287580,12:48378432:T>C,NM_001844.4:c.1834-50A>G,\N,\N,27/53,Benign,\N,intron_variant,0.178,0.0098,1KG_AFR_AF,COL2A1
287581,12:48378432:T>G,NM_001844.4:c.1834-50A>C,\N,\N,27/53,Unknown significance,\N,intron_variant,0.505,0.0000155024,EXAC_NFE_AF,COL2A1
287582,12:48378441:G>A,NM_001844.4:c.1834-59C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,4.613,0.0015,1KG_AFR_AF,COL2A1
287583,12:48378473:C>T,NM_001844.4:c.1834-91G>A,\N,\N,27/53,Unknown significance,\N,intron_variant,5.893,0.001,1KG_EUR_AF,COL2A1
287584,12:48378502:A>G,NM_001844.4:c.1834-120T>C,\N,\N,27/53,Unknown significance,\N,intron_variant,3.022,\N,\N,COL2A1
287585,12:48378529:G>A,NM_001844.4:c.1834-147C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,8.764,\N,\N,COL2A1
287586,12:48378555:G>A,NM_001844.4:c.1834-173C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,4.796,\N,\N,COL2A1
287587,12:48378568:G>A,NM_001844.4:c.1834-186C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,5.655,\N,\N,COL2A1
287588,12:48378574:T>C,NM_001844.4:c.1834-192A>G,\N,\N,27/53,Unknown significance,\N,intron_variant,4.449,\N,\N,COL2A1
287589,12:48378582:G>A,NM_001844.4:c.1833+196C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,2.809,\N,\N,COL2A1
287590,12:48378591:C>T,NM_001844.4:c.1833+187G>A,\N,\N,27/53,Unknown significance,\N,intron_variant,3.012,0.001,1KG_EUR_AF|1KG_SAS_AF,COL2A1
287591,12:48378600:G>A,NM_001844.4:c.1833+178C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,1.249,\N,\N,COL2A1
287592,12:48378600:G>T,NM_001844.4:c.1833+178C>A,\N,\N,27/53,Unknown significance,\N,intron_variant,0.602,0.0008,1KG_AFR_AF,COL2A1
287593,12:48378604:G>A,NM_001844.4:c.1833+174C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,3.339,0.001,1KG_SAS_AF,COL2A1
287594,12:48378611:G>T,NM_001844.4:c.1833+167C>A,\N,\N,27/53,Unknown significance,\N,intron_variant,1.41,\N,\N,COL2A1
287595,12:48378622:A>G,NM_001844.4:c.1833+156T>C,\N,\N,27/53,Unknown significance,\N,intron_variant,2.704,0.001,1KG_SAS_AF,COL2A1
287596,12:48378636:C>T,NM_001844.4:c.1833+142G>A,\N,\N,27/53,Unknown significance,\N,intron_variant,5.497,0.0045,1KG_AFR_AF,COL2A1
287597,12:48378641:C>T,NM_001844.4:c.1833+137G>A,\N,\N,27/53,Unknown significance,\N,intron_variant,1.99,\N,\N,COL2A1
287598,12:48378661:G>C,NM_001844.4:c.1833+117C>G,\N,\N,27/53,Unknown significance,\N,intron_variant,0.492,0.0029,1KG_AMR_AF,COL2A1
287599,12:48378684:T>G,NM_001844.4:c.1833+94A>C,\N,\N,27/53,Unknown significance,\N,intron_variant,1.191,\N,\N,COL2A1
287600,12:48378725:G>A,NM_001844.4:c.1833+53C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,5.588,\N,\N,COL2A1
287601,12:48378731:T>G,NM_001844.4:c.1833+47A>C,\N,\N,27/53,Unknown significance,\N,intron_variant,2.966,\N,\N,COL2A1
287602,12:48378743:C>T,NM_001844.4:c.1833+35G>A,\N,\N,27/53,Unknown significance,\N,intron_variant,11.15,0.000172354,EXAC_EAS_AF,COL2A1
287603,12:48378757:G>A,NM_001844.4:c.1833+21C>T,\N,\N,27/53,Unknown significance,\N,intron_variant,4.77,0.000128966,EXAC_AFR_AF,COL2A1
287604,12:48378760:G>C,NM_001844.4:c.1833+18C>G,\N,\N,27/53,Unknown significance,\N,intron_variant,0.683,0.000882279,EXAC_AFR_AF,COL2A1
287605,12:48378770:T>C,NM_001844.4:c.1833+8A>G,\N,\N,27/53,Unknown significance,\N,splice_region_variant&intron_variant,12.44,\N,\N,COL2A1
287606,12:48378777:C>T,NM_001844.4:c.1833+1G>A,\N,\N,27/53,Pathogenic,Stickler syndrome,splice_donor_variant,28,\N,\N,COL2A1
287607,12:48378778:G>A,NM_001844.4:c.1833C>T,NP_001835.3:p.Asn611=,27/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.64,0.0014,1KG_AMR_AF,COL2A1
287608,12:48378779:T>C,NM_001844.4:c.1832A>G,NP_001835.3:p.Asn611Ser,27/54,\N,Likely benign,\N,missense_variant&splice_region_variant,4.599,0.000226963,EVS_AA_AF,COL2A1
287609,12:48378781:G>A,NM_001844.4:c.1830C>T,NP_001835.3:p.Ala610=,27/54,\N,Unknown significance,\N,synonymous_variant,11.43,0.0008,1KG_AFR_AF,COL2A1
287610,12:48378782:GC>G,NM_001844.4:c.1828del,NP_001835.3:p.Ala610ProfsTer19,27/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287611,12:48378785:C>G,NM_001844.4:c.1826G>C,NP_001835.3:p.Gly609Ala,27/54,\N,Unknown significance,\N,missense_variant,28.1,0.000226963,EVS_AA_AF,COL2A1
287612,12:48378789:TG>T,NM_001844.4:c.1821del,NP_001835.3:p.Gly609ValfsTer20,27/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287613,12:48378792:G>A,NM_001844.4:c.1819C>T,NP_001835.3:p.Pro607Ser,27/54,\N,Unknown significance,\N,missense_variant,25,0.000104254,EXAC_AFR_AF,COL2A1
287614,12:48378793:G>A,NM_001844.4:c.1818C>T,NP_001835.3:p.Gly606=,27/54,\N,Unknown significance,\N,synonymous_variant,10.93,\N,\N,COL2A1
287615,12:48378812:C>A,NM_001844.4:c.1799G>T,NP_001835.3:p.Gly600Val,27/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,33,\N,\N,COL2A1
287616,12:48378816:G>A,NM_033150.2:c.1588C>T,NP_149162.2:p.Pro530Ser,26/53,\N,Unknown significance,\N,missense_variant,24.9,0.000116279,EVS_EA_AF,COL2A1
287617,12:48378817:C>A,NM_001844.4:c.1794G>T,NP_001835.3:p.Gln598His,27/54,\N,Unknown significance,\N,missense_variant,23.5,0.000116279,EVS_EA_AF,COL2A1
287618,12:48378830:C>T,NM_001844.4:c.1781G>A,NP_001835.3:p.Gly594Glu,27/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,33,\N,\N,COL2A1
287619,12:48378834:G>A,NM_001844.4:c.1777C>T,NP_001835.3:p.Gln593Ter,27/54,\N,Pathogenic,Stickler syndrome,stop_gained,39,\N,\N,COL2A1
287620,12:48378842:G>A,NM_001844.4:c.1769C>T,NP_001835.3:p.Pro590Leu,27/54,\N,Unknown significance,\N,missense_variant,30,0.0000906125,EXAC_AMR_AF,COL2A1
287621,12:48378844:A>C,NM_001844.4:c.1767T>G,NP_001835.3:p.Pro589=,27/54,\N,Unknown significance,\N,synonymous_variant,5.5,0.0000157213,EXAC_NFE_AF,COL2A1
287622,12:48378851:G>C,NM_001844.4:c.1760C>G,NP_001835.3:p.Pro587Arg,27/54,\N,Unknown significance,\N,missense_variant,27.1,0.000104932,EXAC_AFR_AF,COL2A1
287623,12:48378852:G>A,NM_001844.4:c.1759C>T,NP_001835.3:p.Pro587Ser,27/54,\N,Unknown significance,\N,missense_variant,24.6,0.0000159551,EXAC_NFE_AF,COL2A1
287624,12:48378854:C>G,NM_001844.4:c.1757G>C,NP_001835.3:p.Arg586Pro,27/54,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,COL2A1
287625,12:48378854:C>T,NM_001844.4:c.1757G>A,NP_001835.3:p.Arg586His,27/54,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_EAS_AF,COL2A1
287626,12:48378855:G>A,NM_001844.4:c.1756C>T,NP_001835.3:p.Arg586Cys,27/54,\N,Unknown significance,\N,missense_variant,35,0.0000646412,EXAC_SAS_AF,COL2A1
287627,12:48378867:C>T,NM_001844.4:c.1744G>A,NP_001835.3:p.Gly582Ser,27/54,\N,Pathogenic,Epiphyseal dysplasia of the femoral head,missense_variant,33,\N,\N,COL2A1
287628,12:48378868:A>G,NM_001844.4:c.1743T>C,NP_001835.3:p.Pro581=,27/54,\N,Unknown significance,\N,synonymous_variant,6.647,0.0000168384,EXAC_NFE_AF,COL2A1
287629,12:48378873:C>A,NM_001844.4:c.1738G>T,NP_001835.3:p.Ala580Ser,27/54,\N,Unknown significance,\N,missense_variant,18.24,0.000392927,EXAC_FIN_AF,COL2A1
287630,12:48378874:T>TC,NM_001844.4:c.1736dup,NP_001835.3:p.Ala580SerfsTer4,27/54,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,\N,\N,\N,COL2A1
287631,12:48378877:C>T,NM_001844.4:c.1735-1G>A,\N,\N,26/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,26.7,\N,\N,COL2A1
287632,12:48378883:G>C,NM_001844.4:c.1735-7C>G,\N,\N,26/53,Unknown significance,\N,splice_region_variant&intron_variant,11.11,0.0000179102,EXAC_NFE_AF,COL2A1
287633,12:48378895:T>TTC,NM_001844.4:c.1735-21_1735-20dup,\N,\N,26/53,Unknown significance,\N,intron_variant,2.123,\N,\N,COL2A1
287634,12:48378900:A>G,NM_001844.4:c.1735-24T>C,\N,\N,26/53,Benign,\N,intron_variant,9.999,0.105002,EXAC_FIN_AF,COL2A1
287635,12:48378901:G>A,NM_001844.4:c.1735-25C>T,\N,\N,26/53,Unknown significance,\N,intron_variant,5.01,0.000151332,EXAC_EAS_AF,COL2A1
287636,12:48378908:G>A,NM_001844.4:c.1735-32C>T,\N,\N,26/53,Unknown significance,\N,intron_variant,14.32,0.000244798,EXAC_AMR_AF,COL2A1
287637,12:48378910:C>T,NM_001844.4:c.1735-34G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,14.79,0.0000214151,EXAC_NFE_AF,COL2A1
287638,12:48378911:A>C,NM_001844.4:c.1735-35T>G,\N,\N,26/53,Unknown significance,\N,intron_variant,13.33,0.0000216198,EXAC_NFE_AF,COL2A1
287639,12:48378919:C>T,NM_001844.4:c.1735-43G>A,\N,\N,26/53,Benign,\N,intron_variant,0.707,0.0571092,EXAC_AFR_AF,COL2A1
287640,12:48378933:C>G,NM_001844.4:c.1735-57G>C,\N,\N,26/53,Benign,\N,intron_variant,0.423,0.0706,1KG_EUR_AF,COL2A1
287641,12:48378942:C>T,NM_001844.4:c.1735-66G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,4.823,\N,\N,COL2A1
287642,12:48378946:G>A,NM_001844.4:c.1735-70C>T,\N,\N,26/53,Unknown significance,\N,intron_variant,7.165,0.0008,1KG_AFR_AF,COL2A1
287643,12:48378950:C>T,NM_001844.4:c.1735-74G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,6.66,\N,\N,COL2A1
287644,12:48378955:T>C,NM_001844.4:c.1735-79A>G,\N,\N,26/53,Unknown significance,\N,intron_variant,3.315,\N,\N,COL2A1
287645,12:48378970:T>A,NM_001844.4:c.1735-94A>T,\N,\N,26/53,Unknown significance,\N,intron_variant,8.724,\N,\N,COL2A1
287646,12:48378971:A>T,NM_001844.4:c.1735-95T>A,\N,\N,26/53,Unknown significance,\N,intron_variant,4.239,\N,\N,COL2A1
287647,12:48378997:C>T,NM_001844.4:c.1735-121G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,5.282,0.001,1KG_EUR_AF,COL2A1
287648,12:48379017:C>T,NM_001844.4:c.1735-141G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,6.194,0.0023,1KG_AFR_AF,COL2A1
287649,12:48379036:C>G,NM_001844.4:c.1735-160G>C,\N,\N,26/53,Unknown significance,\N,intron_variant,4.34,0.004,1KG_EAS_AF,COL2A1
287650,12:48379044:C>T,NM_001844.4:c.1735-168G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,2.571,\N,\N,COL2A1
287651,12:48379047:T>C,NM_001844.4:c.1735-171A>G,\N,\N,26/53,Unknown significance,\N,intron_variant,6.101,\N,\N,COL2A1
287652,12:48379063:C>T,NM_001844.4:c.1735-187G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,4.967,0.0014,1KG_AMR_AF,COL2A1
287653,12:48379079:C>T,NM_001844.4:c.1735-203G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,4.668,0.001,1KG_SAS_AF,COL2A1
287654,12:48379082:G>A,NM_001844.4:c.1735-206C>T,\N,\N,26/53,Benign,\N,intron_variant,1.897,0.0212,1KG_AFR_AF,COL2A1
287655,12:48379096:C>T,NM_001844.4:c.1735-220G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,3.443,0.0008,1KG_AFR_AF,COL2A1
287656,12:48379112:G>A,NM_001844.4:c.1734+205C>T,\N,\N,26/53,Unknown significance,\N,intron_variant,0.825,0.0029,1KG_AMR_AF,COL2A1
287657,12:48379192:C>A,NM_001844.4:c.1734+125G>T,\N,\N,26/53,Unknown significance,\N,intron_variant,6.785,\N,\N,COL2A1
287658,12:48379192:C>T,NM_001844.4:c.1734+125G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,6.972,0.0038,1KG_AFR_AF,COL2A1
287659,12:48379193:CT>C,NM_001844.4:c.1734+123del,\N,\N,26/53,Unknown significance,\N,intron_variant,6.172,\N,\N,COL2A1
287660,12:48379231:C>T,NM_001844.4:c.1734+86G>A,\N,\N,26/53,Benign,\N,intron_variant,5.321,0.0053,1KG_AFR_AF,COL2A1
287661,12:48379238:C>G,NM_001844.4:c.1734+79G>C,\N,\N,26/53,Unknown significance,\N,intron_variant,5.522,0.0041,1KG_SAS_AF,COL2A1
287662,12:48379241:A>G,NM_001844.4:c.1734+76T>C,\N,\N,26/53,Unknown significance,\N,intron_variant,3.854,0.0008,1KG_AFR_AF,COL2A1
287663,12:48379251:T>C,NM_001844.4:c.1734+66A>G,\N,\N,26/53,Unknown significance,\N,intron_variant,3.458,\N,\N,COL2A1
287664,12:48379269:C>T,NM_001844.4:c.1734+48G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,5.209,0.0000150249,EXAC_NFE_AF,COL2A1
287665,12:48379270:A>G,NM_001844.4:c.1734+47T>C,\N,\N,26/53,Unknown significance,\N,intron_variant,3.304,0.000116117,EXAC_EAS_AF,COL2A1
287666,12:48379273:GAGATCCCCCCA>G,NM_001844.4:c.1734+33_1734+43del,\N,\N,26/53,Unknown significance,\N,intron_variant,1.918,\N,\N,COL2A1
287667,12:48379276:A>AT,NM_001844.4:c.1734+40dup,\N,\N,26/53,Unknown significance,\N,intron_variant,1.093,0.0000963391,EXAC_AFR_AF,COL2A1
287668,12:48379278:C>A,NM_001844.4:c.1734+39G>T,\N,\N,26/53,Unknown significance,\N,intron_variant,5.784,0.0000605767,EXAC_SAS_AF,COL2A1
287669,12:48379278:C>T,NM_001844.4:c.1734+39G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,4.694,0.0000864304,EXAC_AMR_AF,COL2A1
287670,12:48379279:C>T,NM_001844.4:c.1734+38G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,3.163,0.0000963577,EXAC_AFR_AF,COL2A1
287671,12:48379280:C>G,NM_001844.4:c.1734+37G>C,\N,\N,26/53,Unknown significance,\N,intron_variant,3.83,0.0000150236,EXAC_NFE_AF,COL2A1
287672,12:48379283:C>CA,NM_001844.4:c.1734+33dup,\N,\N,26/53,Unknown significance,\N,intron_variant,3.243,\N,\N,COL2A1
287673,12:48379285:C>T,NM_001844.4:c.1734+32G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,5.846,0.0000300481,EXAC_NFE_AF,COL2A1
287674,12:48379286:C>T,NM_001844.4:c.1734+31G>A,\N,\N,26/53,Unknown significance,\N,intron_variant,5.585,0.0000150222,EXAC_NFE_AF,COL2A1
287675,12:48379291:T>C,NM_001844.4:c.1734+26A>G,\N,\N,26/53,Unknown significance,\N,intron_variant,0.703,0.000232288,EXAC_EAS_AF,COL2A1
287676,12:48379295:AG>A,NM_001844.4:c.1734+21del,\N,\N,26/53,Unknown significance,\N,intron_variant,1.214,0.0000864304,EXAC_AMR_AF,COL2A1
287677,12:48379307:A>T,NM_001844.4:c.1734+10T>A,\N,\N,26/53,Unknown significance,\N,intron_variant,1.073,0.0000962649,EXAC_AFR_AF,COL2A1
287678,12:48379312:C>T,NM_001844.4:c.1734+5G>A,\N,\N,26/53,Pathogenic,Kniest dysplasia,splice_region_variant&intron_variant,17.04,\N,\N,COL2A1
287679,12:48379318:GA>G,NM_001844.4:c.1732del,NP_001835.3:p.Ser578LeufsTer51,26/54,\N,Pathogenic,Stickler syndrome,frameshift_variant&splice_region_variant,33,\N,\N,COL2A1
287680,12:48379334:C>T,NM_001844.4:c.1717G>A,NP_001835.3:p.Gly573Ser,26/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,34,\N,\N,COL2A1
287681,12:48379337:G>A,NM_001844.4:c.1714C>T,NP_001835.3:p.Gln572Ter,26/54,\N,Pathogenic,Stickler syndrome,stop_gained,38,\N,\N,COL2A1
287682,12:48379357:C>T,NM_001844.4:c.1694G>A,NP_001835.3:p.Arg565His,26/54,\N,Unknown significance,\N,missense_variant,31,0.000345662,EXAC_AMR_AF,COL2A1
287683,12:48379358:G>A,NM_001844.4:c.1693C>T,NP_001835.3:p.Arg565Cys,26/54,\N,Pathogenic,Stickler syndrome,missense_variant,34,\N,\N,COL2A1
287684,12:48379359:G>T,NM_001844.4:c.1692C>A,NP_001835.3:p.Gly564=,26/54,\N,Unknown significance,\N,synonymous_variant,7.583,0.00110375,EXAC_OTH_AF,COL2A1
287685,12:48379371:C>G,NM_001844.4:c.1681-1G>C,\N,\N,25/53,Pathogenic,Kniest dysplasia,splice_acceptor_variant,26.6,\N,\N,COL2A1
287686,12:48379376:T>C,NM_001844.4:c.1681-6A>G,\N,\N,25/53,Unknown significance,\N,splice_region_variant&intron_variant,9.663,0.0000963391,EXAC_AFR_AF,COL2A1
287687,12:48379385:G>C,NM_001844.4:c.1681-15C>G,\N,\N,25/53,Unknown significance,\N,intron_variant,12.16,0.0000605914,EXAC_SAS_AF,COL2A1
287688,12:48379393:G>A,NM_001844.4:c.1681-23C>T,\N,\N,25/53,Unknown significance,\N,intron_variant,7.403,0.00270166,EXAC_AFR_AF,COL2A1
287689,12:48379398:G>T,NM_001844.4:c.1681-28C>A,\N,\N,25/53,Unknown significance,\N,intron_variant,1.19,\N,\N,COL2A1
287690,12:48379399:G>C,NM_001844.4:c.1681-29C>G,\N,\N,25/53,Unknown significance,\N,intron_variant,1.106,0.000116279,EVS_EA_AF,COL2A1
287691,12:48379407:C>A,NM_001844.4:c.1681-37G>T,\N,\N,25/53,Unknown significance,\N,intron_variant,8.656,0.0000606061,EXAC_SAS_AF,COL2A1
287692,12:48379408:C>T,NM_001844.4:c.1681-38G>A,\N,\N,25/53,Benign,\N,intron_variant,8.312,0.0824508,EXAC_FIN_AF,COL2A1
287693,12:48379409:G>A,NM_001844.4:c.1681-39C>T,\N,\N,25/53,Unknown significance,\N,intron_variant,9.999,0.000116387,EXAC_EAS_AF,COL2A1
287694,12:48379409:G>C,NM_001844.4:c.1681-39C>G,\N,\N,25/53,Unknown significance,\N,intron_variant,7.964,0.0000865202,EXAC_AMR_AF,COL2A1
287695,12:48379411:C>T,NM_001844.4:c.1681-41G>A,\N,\N,25/53,Unknown significance,\N,intron_variant,17.85,0.0000967118,EXAC_AFR_AF,COL2A1
287696,12:48379412:C>T,NM_001844.4:c.1681-42G>A,\N,\N,25/53,Unknown significance,\N,intron_variant,17.99,0.000121227,EXAC_SAS_AF,COL2A1
287697,12:48379416:G>T,NM_001844.4:c.1681-46C>A,\N,\N,25/53,Unknown significance,\N,intron_variant,17.01,0.000116279,EVS_EA_AF,COL2A1
287698,12:48379422:C>A,NM_001844.4:c.1681-52G>T,\N,\N,25/53,Unknown significance,\N,intron_variant,19.42,0.0000150553,EXAC_NFE_AF,COL2A1
287699,12:48379474:G>T,NM_001844.4:c.1680+37C>A,\N,\N,25/53,Unknown significance,\N,intron_variant,9.159,0.00211864,EXAC_EAS_AF,COL2A1
287700,12:48379494:G>A,NM_001844.4:c.1680+17C>T,\N,\N,25/53,Benign,\N,intron_variant,5.715,0.0545,1KG_AFR_AF,COL2A1
287701,12:48379495:C>A,NM_001844.4:c.1680+16G>T,\N,\N,25/53,Unknown significance,\N,intron_variant,6.113,0.0000153018,EXAC_NFE_AF,COL2A1
287702,12:48379502:G>T,NM_001844.4:c.1680+9C>A,\N,\N,25/53,Unknown significance,\N,intron_variant,4.753,0.00011773,EXAC_EAS_AF,COL2A1
287703,12:48379503:C>A,NM_001844.4:c.1680+8G>T,\N,\N,25/53,Unknown significance,\N,splice_region_variant&intron_variant,9.354,0.00011773,EXAC_EAS_AF,COL2A1
287704,12:48379505:A>G,NM_001844.4:c.1680+6T>C,\N,\N,25/53,Unknown significance,\N,splice_region_variant&intron_variant,9.04,0.000166058,EXAC_FIN_AF,COL2A1
287705,12:48379509:AC>TT,NM_001844.4:c.1680+1_1680+2delinsAA,\N,\N,25/53,Pathogenic,Stickler syndrome,splice_donor_variant,26.5,\N,\N,COL2A1
287706,12:48379513:G>A,NM_001844.4:c.1678C>T,NP_001835.3:p.Arg560Trp,25/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,0.0000620655,EXAC_SAS_AF,COL2A1
287707,12:48379515:G>GCTCCAGGAAGGCCAGGTT,NM_001844.4:c.1658_1675dup,NP_001835.3:p.Glu553_Gly558dup,25/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,inframe_insertion,\N,\N,\N,COL2A1
287708,12:48379515:GCTCCAGGAAGGCCAGGTTC>G,NM_001844.4:c.1657_1675del,NP_001835.3:p.Glu553ProfsTer70,25/54,\N,Pathogenic,Kniest dysplasia,frameshift_variant,\N,\N,\N,COL2A1
287709,12:48379530:G>A,NM_001844.4:c.1661C>T,NP_001835.3:p.Pro554Leu,25/54,\N,Unknown significance,\N,missense_variant,25,0.0000154622,EXAC_NFE_AF,COL2A1
287710,12:48379531:G>T,NM_001844.4:c.1660C>A,NP_001835.3:p.Pro554Thr,25/54,\N,Unknown significance,\N,missense_variant,16.07,0.00012536,EXAC_SAS_AF,COL2A1
287711,12:48379532:T>C,NM_001844.4:c.1659A>G,NP_001835.3:p.Glu553=,25/54,\N,Unknown significance,\N,synonymous_variant,1.51,0.000471587,EXAC_EAS_AF,COL2A1
287712,12:48379542:C>A,NM_001844.4:c.1649G>T,NP_001835.3:p.Arg550Leu,25/54,\N,Benign,\N,missense_variant,29,0.00905342,EXAC_AMR_AF,COL2A1
287713,12:48379554:C>A,NM_001844.4:c.1637G>T,NP_001835.3:p.Gly546Val,25/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,32,\N,\N,COL2A1
287714,12:48379555:C>T,NM_001844.4:c.1636G>A,NP_001835.3:p.Gly546Ser,25/54,\N,Pathogenic,Hip dysplasia and spinal osteochondritis,missense_variant,34,\N,\N,COL2A1
287715,12:48379556:G>A,NM_001844.4:c.1635C>T,NP_001835.3:p.Asn545=,25/54,\N,Unknown significance,\N,synonymous_variant,9.009,0.000232558,EVS_EA_AF,COL2A1
287716,12:48379556:G>T,NM_033150.2:c.1428C>A,NP_149162.2:p.Asn476Lys,24/53,\N,Unknown significance,\N,missense_variant,0.374,0.0000162006,EXAC_NFE_AF,COL2A1
287717,12:48379557:T>C,NM_001844.4:c.1634A>G,NP_001835.3:p.Asn545Ser,25/54,\N,Unknown significance,\N,missense_variant,1.154,0.00068089,EVS_AA_AF,COL2A1
287718,12:48379558:TG>T,NM_001844.4:c.1632del,NP_001835.3:p.Asn545ThrfsTer84,25/54,\N,Unknown significance,\N,frameshift_variant,29.5,0.000106906,EXAC_AFR_AF,COL2A1
287719,12:48379561:C>T,NM_001844.4:c.1630G>A,NP_001835.3:p.Ala544Thr,25/54,\N,Unknown significance,\N,missense_variant,20.7,0.0000931793,EXAC_AMR_AF,COL2A1
287720,12:48379568:G>A,NM_001844.4:c.1623C>T,NP_001835.3:p.Pro541=,25/54,\N,Unknown significance,\N,synonymous_variant,5.714,0.000110059,EXAC_AFR_AF,COL2A1
287721,12:48379571:G>A,NM_001844.4:c.1620C>T,NP_001835.3:p.Gly540=,25/54,\N,Unknown significance,\N,synonymous_variant,6.861,0.000344923,EXAC_SAS_AF,COL2A1
287722,12:48379582:C>T,NM_001844.4:c.1609G>A,NP_001835.3:p.Gly537Ser,25/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,28.5,\N,\N,COL2A1
287723,12:48379588:G>GC,NM_001844.4:c.1602dup,NP_001835.3:p.Pro535AlafsTer13,25/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,33,\N,\N,COL2A1
287724,12:48379589:C>T,NM_001844.4:c.1602G>A,NP_001835.3:p.Gly534=,25/54,\N,Unknown significance,\N,synonymous_variant,12.53,0.000020086,EXAC_NFE_AF,COL2A1
287725,12:48379592:T>TGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACA,NM_001844.4:c.1598_1599insTGTCTACACAGGGAGACTTCTGTTTGCCATTGGTC,NP_001835.3:p.Gly534ValfsTer107,25/54,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,COL2A1
287726,12:48379593:C>T,NM_001844.4:c.1598G>A,NP_001835.3:p.Arg533Gln,25/54,\N,Unknown significance,\N,missense_variant,28.6,0.000146929,EXAC_EAS_AF,COL2A1
287727,12:48379594:G>A,NM_001844.4:c.1597C>T,NP_001835.3:p.Arg533Ter,25/54,\N,Pathogenic,Stickler syndrome,stop_gained,43,\N,\N,COL2A1
287728,12:48379595:C>A,NM_001844.4:c.1596G>T,NP_001835.3:p.Glu532Asp,25/54,\N,Unknown significance,\N,missense_variant,19.55,0.00014979,EXAC_EAS_AF,COL2A1
287729,12:48379605:G>T,NM_001844.4:c.1586C>A,NP_001835.3:p.Ala529Asp,25/54,\N,Unknown significance,\N,missense_variant,24.4,0.000116279,EVS_EA_AF,COL2A1
287730,12:48379606:C>A,NM_001844.4:c.1585G>T,NP_001835.3:p.Ala529Ser,25/54,\N,Unknown significance,\N,missense_variant,21.8,\N,\N,COL2A1
287731,12:48379611:T>C,NM_001844.4:c.1582-2A>G,\N,\N,24/53,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,splice_acceptor_variant,24.2,\N,\N,COL2A1
287732,12:48379627:G>T,NM_001844.4:c.1582-18C>A,\N,\N,24/53,Unknown significance,\N,intron_variant,4.661,0.000227273,EVS_AA_AF,COL2A1
287733,12:48379642:C>T,NM_001844.4:c.1582-33G>A,\N,\N,24/53,Unknown significance,\N,intron_variant,7.031,0.0000403747,EXAC_NFE_AF,COL2A1
287734,12:48379644:T>C,NM_001844.4:c.1582-35A>G,\N,\N,24/53,Unknown significance,\N,intron_variant,3.248,0.0000400288,EXAC_NFE_AF,COL2A1
287735,12:48379654:G>A,NM_001844.4:c.1581+41C>T,\N,\N,24/53,Unknown significance,\N,intron_variant,9.24,\N,\N,COL2A1
287736,12:48379655:C>T,NM_001844.4:c.1581+40G>A,\N,\N,24/53,Unknown significance,\N,intron_variant,5.308,0.000426621,EXAC_AMR_AF,COL2A1
287737,12:48379656:G>A,NM_001844.4:c.1581+39C>T,\N,\N,24/53,Unknown significance,\N,intron_variant,5.991,0.000124891,EXAC_NFE_AF,COL2A1
287738,12:48379660:C>G,NM_001844.4:c.1581+35G>C,\N,\N,24/53,Unknown significance,\N,intron_variant,3.56,0.000281215,EXAC_AFR_AF,COL2A1
287739,12:48379674:A>G,NM_001844.4:c.1581+21T>C,\N,\N,24/53,Unknown significance,\N,intron_variant,11.37,0.00104384,EXAC_AMR_AF,COL2A1
287740,12:48379679:C>T,NM_001844.4:c.1581+16G>A,\N,\N,24/53,Unknown significance,\N,intron_variant,11.97,0.00163292,EXAC_AFR_AF,COL2A1
287741,12:48379681:CTT>C,NM_001844.4:c.1581+12_1581+13del,\N,\N,24/53,Unknown significance,\N,intron_variant,13.17,0.0000965251,EXAC_NFE_AF,COL2A1
287742,12:48379694:C>T,NM_001844.4:c.1581+1G>A,\N,\N,24/53,Pathogenic,Kniest dysplasia,splice_donor_variant,27.6,\N,\N,COL2A1
287743,12:48379697:T>C,NM_001844.4:c.1579A>G,NP_001835.3:p.Lys527Glu,24/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.8,\N,\N,COL2A1
287744,12:48379705:GCCAGA>G,NM_001844.4:c.1566_1570del,NP_001835.3:p.Leu523ArgfsTer23,24/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287745,12:48379711:C>A,NM_001844.4:c.1565G>T,NP_001835.3:p.Gly522Val,24/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,33,\N,\N,COL2A1
287746,12:48379721:C>T,NM_001844.4:c.1555G>A,NP_001835.3:p.Gly519Ser,24/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,33,\N,\N,COL2A1
287747,12:48379729:C>T,NM_001844.4:c.1547G>A,NP_001835.3:p.Gly516Asp,24/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,32,\N,\N,COL2A1
287748,12:48379731:G>A,NM_001844.4:c.1545C>T,NP_001835.3:p.Arg515=,24/54,\N,Unknown significance,\N,synonymous_variant,12.09,0.000252589,EXAC_SAS_AF,COL2A1
287749,12:48379731:G>T,NM_001844.4:c.1545C>A,NP_001835.3:p.Arg515=,24/54,\N,Benign,\N,synonymous_variant,10.22,0.0179,1KG_EUR_AF,COL2A1
287750,12:48379737:G>T,NM_001844.4:c.1539C>A,NP_001835.3:p.Gly513=,24/54,\N,Unknown significance,\N,synonymous_variant,6.868,\N,\N,COL2A1
287751,12:48379739:C>T,NM_001844.4:c.1537G>A,NP_001835.3:p.Gly513Ser,24/54,\N,Pathogenic,Achondrogenesis II-hypochondrogenesis,missense_variant,34,\N,\N,COL2A1
287752,12:48379740:G>A,NM_001844.4:c.1536C>T,NP_001835.3:p.Pro512=,24/54,\N,Unknown significance,\N,synonymous_variant,12.26,\N,\N,COL2A1
287753,12:48379747:C>T,NM_001844.4:c.1529G>A,NP_001835.3:p.Gly510Asp,24/54,\N,Pathogenic,Achondrogenesis 2,missense_variant&splice_region_variant,31,\N,\N,COL2A1
287754,12:48379772:G>T,NM_001844.4:c.1528-24C>A,\N,\N,23/53,Unknown significance,\N,intron_variant,3.927,0.000141483,EVS_EA_AF,COL2A1
287755,12:48379791:C>T,NM_001844.4:c.1528-43G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,4.207,0.000126358,EXAC_SAS_AF,COL2A1
287756,12:48379810:G>A,NM_001844.4:c.1528-62C>T,\N,\N,23/53,Benign,\N,intron_variant,5.082,0.504,1KG_EAS_AF,COL2A1
287757,12:48379824:C>T,NM_001844.4:c.1528-76G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,4.767,0.0008,1KG_AFR_AF,COL2A1
287758,12:48379833:C>T,NM_001844.4:c.1528-85G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,4.682,\N,\N,COL2A1
287759,12:48379841:A>G,NM_001844.4:c.1528-93T>C,\N,\N,23/53,Unknown significance,\N,intron_variant,4.705,0.0008,1KG_AFR_AF,COL2A1
287760,12:48379856:T>C,NM_001844.4:c.1528-108A>G,\N,\N,23/53,Benign,\N,intron_variant,7.146,0.5658,1KG_AFR_AF,COL2A1
287761,12:48379904:C>T,NM_001844.4:c.1528-156G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,4.71,0.001,1KG_SAS_AF,COL2A1
287762,12:48379904:CG>C,NM_001844.4:c.1528-157del,\N,\N,23/53,Benign,\N,intron_variant,0.043,0.0166,1KG_AFR_AF,COL2A1
287763,12:48379913:G>C,NM_001844.4:c.1528-165C>G,\N,\N,23/53,Benign,\N,intron_variant,3.469,0.006,1KG_EAS_AF,COL2A1
287764,12:48379949:T>C,NM_001844.4:c.1527+170A>G,\N,\N,23/53,Unknown significance,\N,intron_variant,1.717,\N,\N,COL2A1
287765,12:48379955:G>T,NM_001844.4:c.1527+164C>A,\N,\N,23/53,Unknown significance,\N,intron_variant,2.571,0.001,1KG_EUR_AF,COL2A1
287766,12:48379961:A>C,NM_001844.4:c.1527+158T>G,\N,\N,23/53,Benign,\N,intron_variant,2.612,0.5357,1KG_EAS_AF,COL2A1
287767,12:48379964:A>G,NM_001844.4:c.1527+155T>C,\N,\N,23/53,Benign,\N,intron_variant,4.918,0.5357,1KG_EAS_AF,COL2A1
287768,12:48379971:G>C,NM_001844.4:c.1527+148C>G,\N,\N,23/53,Unknown significance,\N,intron_variant,2.162,\N,\N,COL2A1
287769,12:48379975:C>T,NM_001844.4:c.1527+144G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,6.468,0.002,1KG_EAS_AF,COL2A1
287770,12:48379984:C>T,NM_001844.4:c.1527+135G>A,\N,\N,23/53,Pathogenic,Stickler syndrome,intron_variant,2.161,\N,\N,COL2A1
287771,12:48379986:C>T,NM_001844.4:c.1527+133G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,0.965,0.002,1KG_EAS_AF,COL2A1
287772,12:48379987:G>A,NM_001844.4:c.1527+132C>T,\N,\N,23/53,Unknown significance,\N,intron_variant,6.861,0.0015,1KG_AFR_AF,COL2A1
287773,12:48379991:T>A,NM_001844.4:c.1527+128A>T,\N,\N,23/53,Unknown significance,\N,intron_variant,8.393,\N,\N,COL2A1
287774,12:48379999:G>A,NM_001844.4:c.1527+120C>T,\N,\N,23/53,Unknown significance,\N,intron_variant,5.344,0.001,1KG_SAS_AF,COL2A1
287775,12:48380015:A>C,NM_001844.4:c.1527+104T>G,\N,\N,23/53,Likely pathogenic,Stickler syndrome,intron_variant,1.077,\N,\N,COL2A1
287776,12:48380030:G>A,NM_001844.4:c.1527+89C>T,\N,\N,23/53,Unknown significance,\N,intron_variant,1.989,0.001,1KG_EUR_AF,COL2A1
287777,12:48380031:A>G,NM_001844.4:c.1527+88T>C,\N,\N,23/53,Benign,\N,intron_variant,3.381,0.5377,1KG_EAS_AF,COL2A1
287778,12:48380047:C>T,NM_001844.4:c.1527+72G>A,\N,\N,23/53,Benign,\N,intron_variant,7.646,0.005,1KG_EAS_AF,COL2A1
287779,12:48380048:G>A,NM_001844.4:c.1527+71C>T,\N,\N,23/53,Unknown significance,\N,intron_variant,5.235,0.001,1KG_SAS_AF,COL2A1
287780,12:48380074:C>T,NM_001844.4:c.1527+45G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,0.783,0.001,1KG_EAS_AF,COL2A1
287781,12:48380075:G>A,NM_001844.4:c.1527+44C>T,\N,\N,23/53,Benign,\N,intron_variant,0.533,0.0356,1KG_AFR_AF,COL2A1
287782,12:48380083:A>G,NM_001844.4:c.1527+36T>C,\N,\N,23/53,Unknown significance,\N,intron_variant,4.331,0.000112994,EXAC_NFE_AF,COL2A1
287783,12:48380085:GC>G,NM_001844.4:c.1527+33del,\N,\N,23/53,Unknown significance,\N,intron_variant,4.532,0.000126326,EXAC_SAS_AF,COL2A1
287784,12:48380085:G>A,NM_001844.4:c.1527+34C>T,\N,\N,23/53,Unknown significance,\N,intron_variant,4.752,0.000252653,EXAC_SAS_AF,COL2A1
287785,12:48380090:A>G,NM_001844.4:c.1527+29T>C,\N,\N,23/53,Unknown significance,\N,intron_variant,1.841,0.001,1KG_EAS_AF,COL2A1
287786,12:48380100:G>A,NM_001844.4:c.1527+19C>T,\N,\N,23/53,Unknown significance,\N,intron_variant,2.082,0.000110644,EXAC_NFE_AF,COL2A1
287787,12:48380105:C>T,NM_001844.4:c.1527+14G>A,\N,\N,23/53,Unknown significance,\N,intron_variant,3.466,\N,\N,COL2A1
287788,12:48380123:T>C,NM_001844.4:c.1523A>G,NP_001835.3:p.Glu508Gly,23/54,\N,Unknown significance,\N,missense_variant,26.8,0.000104954,EXAC_NFE_AF,COL2A1
287789,12:48380125:T>A,NM_001844.4:c.1521A>T,NP_001835.3:p.Gly507=,23/54,\N,Unknown significance,\N,synonymous_variant,6.535,\N,\N,COL2A1
287790,12:48380135:C>A,NM_001844.4:c.1511G>T,NP_001835.3:p.Gly504Val,23/54,\N,Likely pathogenic,Spondyloepimetaphyseal dysplasia| Strudwick,missense_variant,28,\N,\N,COL2A1
287791,12:48380136:C>A,NM_001844.4:c.1510G>T,NP_001835.3:p.Gly504Cys,23/54,\N,Pathogenic,Spondyloepimetaphyseal dysplasia Strudwick type; SPONDYLOEPIMETAPHYSEAL DYSPLASIA| STRUDWICK TYPE,missense_variant,33,\N,\N,COL2A1
287792,12:48380136:C>T,NM_001844.4:c.1510G>A,NP_001835.3:p.Gly504Ser,23/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,32,\N,\N,COL2A1
287793,12:48380136:CG>AA,NM_001844.4:c.1509_1510delinsTT,NP_001835.3:p.Gly504Cys,23/54,\N,Pathogenic,Spondyloepimetaphyseal dysplasia| Strudwick,missense_variant,22.5,\N,\N,COL2A1
287794,12:48380137:G>A,NM_001844.4:c.1509C>T,NP_001835.3:p.Ile503=,23/54,\N,Unknown significance,\N,synonymous_variant,7.424,0.00162866,EXAC_AMR_AF,COL2A1
287795,12:48380145:C>G,NM_001844.4:c.1501G>C,NP_001835.3:p.Gly501Arg,23/54,\N,Pathogenic,Stickler syndrome,missense_variant,26.8,\N,\N,COL2A1
287796,12:48380148:C>T,NM_001844.4:c.1498G>A,NP_001835.3:p.Val500Ile,23/54,\N,Likely benign,\N,missense_variant,22,\N,\N,COL2A1
287797,12:48380149:G>A,NM_001844.4:c.1497C>T,NP_001835.3:p.Gly499=,23/54,\N,Unknown significance,\N,synonymous_variant,9.571,0.000990099,EXAC_EAS_AF,COL2A1
287798,12:48380153:C>A,NM_001844.4:c.1493G>T,NP_001835.3:p.Gly498Val,23/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,29.5,\N,\N,COL2A1
287799,12:48380156:G>C,NM_001844.4:c.1490C>G,NP_001835.3:p.Pro497Arg,23/54,\N,Unknown significance,\N,missense_variant,23.9,\N,\N,COL2A1
287800,12:48380165:C>T,NM_001844.4:c.1481G>A,NP_001835.3:p.Arg494His,23/54,\N,Unknown significance,\N,missense_variant,35,\N,\N,COL2A1
287801,12:48380171:C>A,NM_001844.4:c.1475G>T,NP_001835.3:p.Gly492Val,23/54,\N,Pathogenic,Spondyloepimetaphyseal dysplasia| Strudwick,missense_variant,33,\N,\N,COL2A1
287802,12:48380171:CCTCTCTT>A,NM_001844.4:c.1468_1475delinsT,NP_001835.3:p.Lys490LeufsTer137,23/54,\N,Pathogenic,Stickler syndrome| type 1,frameshift_variant,\N,\N,\N,COL2A1
287803,12:48380171:C>T,NM_001844.4:c.1475G>A,NP_001835.3:p.Gly492Asp,23/54,\N,Pathogenic,Stickler syndrome,missense_variant,32,\N,\N,COL2A1
287804,12:48380175:T>C,NM_001844.4:c.1471A>G,NP_001835.3:p.Arg491Gly,23/54,\N,Unknown significance,\N,missense_variant,24.6,\N,\N,COL2A1
287805,12:48380182:T>C,NM_001844.4:c.1464A>G,NP_001835.3:p.Glu488=,23/54,\N,Unknown significance,\N,synonymous_variant,1.922,0.000095511,EXAC_NFE_AF,COL2A1
287806,12:48380193:C>A,NM_001844.4:c.1453G>T,NP_001835.3:p.Ala485Ser,23/54,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,COL2A1
287807,12:48380194:G>A,NM_001844.4:c.1452C>T,NP_001835.3:p.Pro484=,23/54,\N,Unknown significance,\N,synonymous_variant,12.6,0.000107852,EXAC_NFE_AF,COL2A1
287808,12:48380198:C>T,NM_001844.4:c.1448G>A,NP_001835.3:p.Gly483Glu,23/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,31,\N,\N,COL2A1
287809,12:48380199:C>T,NM_001844.4:c.1447G>A,NP_001835.3:p.Gly483Arg,23/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,32,\N,\N,COL2A1
287810,12:48380203:G>T,NM_001844.4:c.1443C>A,NP_001835.3:p.Ala481=,23/54,\N,Unknown significance,\N,synonymous_variant,10.03,0.000373972,EXAC_SAS_AF,COL2A1
287811,12:48380213:G>A,NM_001844.4:c.1433C>T,NP_001835.3:p.Pro478Leu,23/54,\N,Benign,\N,missense_variant,23.5,0.0129944,EXAC_AFR_AF,COL2A1
287812,12:48380216:C>A,NM_001844.4:c.1430G>T,NP_001835.3:p.Gly477Val,23/54,\N,Pathogenic,Spondyloepiphyseal dysplasia congenita,missense_variant,32,\N,\N,COL2A1
287813,12:48380217:C>CGCCA,NM_001844.4:c.1428_1429insTGGC,NP_001835.3:p.Gly477TrpfsTer12,23/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287814,12:48380223:G>T,NM_001844.4:c.1423C>A,NP_001835.3:p.Pro475Thr,23/54,\N,Unknown significance,\N,missense_variant,23.6,\N,\N,COL2A1
287815,12:48380226:C>T,NM_001844.4:c.1420G>A,NP_001835.3:p.Gly474Ser,23/54,\N,Pathogenic,Spondylarthopathy,missense_variant&splice_region_variant,33,\N,\N,COL2A1
287816,12:48380227:C>G,NM_001844.4:c.1420-1G>C,\N,\N,22/53,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,splice_acceptor_variant,25.7,\N,\N,COL2A1
287817,12:48380228:T>G,NM_001844.4:c.1420-2A>C,\N,\N,22/53,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,splice_acceptor_variant,24.8,\N,\N,COL2A1
287818,12:48380228:T>C,NM_001844.4:c.1420-2A>G,\N,\N,22/53,Pathogenic,Kniest dysplasia,splice_acceptor_variant,24.6,\N,\N,COL2A1
287819,12:48380239:A>G,NM_001844.4:c.1420-13T>C,\N,\N,22/53,Unknown significance,\N,intron_variant,11.14,0.000888099,EXAC_SAS_AF,COL2A1
287820,12:48380257:G>A,NM_001844.4:c.1420-31C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,13.23,0.000150195,EXAC_NFE_AF,COL2A1
287821,12:48380266:C>T,NM_001844.4:c.1420-40G>A,\N,\N,22/53,Unknown significance,\N,intron_variant,13.81,\N,\N,COL2A1
287822,12:48380275:G>A,NM_001844.4:c.1420-49C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,5.627,0.000159286,EXAC_NFE_AF,COL2A1
287823,12:48380279:C>T,NM_001844.4:c.1420-53G>A,\N,\N,22/53,Unknown significance,\N,intron_variant,5.902,0.0045,1KG_AFR_AF,COL2A1
287824,12:48380287:G>A,NM_001844.4:c.1420-61C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,2.537,0.001,1KG_SAS_AF,COL2A1
287825,12:48380295:G>A,NM_001844.4:c.1420-69C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,3.848,\N,\N,COL2A1
287826,12:48380311:C>T,NM_001844.4:c.1420-85G>A,\N,\N,22/53,Unknown significance,\N,intron_variant,6.842,\N,\N,COL2A1
287827,12:48380330:C>CT,NM_001844.4:c.1420-105dup,\N,\N,22/53,Unknown significance,\N,intron_variant,4.519,\N,\N,COL2A1
287828,12:48380330:C>CTG,NM_001844.4:c.1420-106_1420-105dup,\N,\N,22/53,Benign,\N,intron_variant,\N,0.2853,1KG_EUR_AF,COL2A1
287829,12:48380330:C>CTT,NM_001844.4:c.1420-105_1420-104insAA,\N,\N,22/53,Benign,\N,intron_variant,\N,0.0469,1KG_AFR_AF,COL2A1
287830,12:48380331:T>TG,NM_001844.4:c.1420-106dup,\N,\N,22/53,Unknown significance,\N,intron_variant,3.867,\N,\N,COL2A1
287831,12:48380331:T>TTG,NM_001844.4:c.1420-106_1420-105insCA,\N,\N,22/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
287832,12:48380333:G>C,NM_001844.4:c.1420-107C>G,\N,\N,22/53,Benign,\N,intron_variant,0.266,0.005,1KG_EAS_AF,COL2A1
287833,12:48380333:G>GT,NM_001844.4:c.1420-108_1420-107insA,\N,\N,22/53,Unknown significance,\N,intron_variant,\N,0.0041,1KG_SAS_AF,COL2A1
287834,12:48380334:G>A,NM_001844.4:c.1420-108C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,2.487,0.0041,1KG_SAS_AF,COL2A1
287835,12:48380334:G>C,NM_001844.4:c.1420-108C>G,\N,\N,22/53,Benign,\N,intron_variant,0.502,0.007,1KG_EUR_AF,COL2A1
287836,12:48380334:G>GC,NM_001844.4:c.1420-109_1420-108insG,\N,\N,22/53,Benign,\N,intron_variant,2.184,0.0133,1KG_SAS_AF,COL2A1
287837,12:48380335:G>GA,NM_001844.4:c.1420-110_1420-109insT,\N,\N,22/53,Benign,\N,intron_variant,2.055,0.0058,1KG_AMR_AF,COL2A1
287838,12:48380335:G>GGT,NM_001844.4:c.1420-110_1420-109insAC,\N,\N,22/53,Benign,\N,intron_variant,1.923,0.0393,1KG_AFR_AF,COL2A1
287839,12:48380336:G>C,NM_001844.4:c.1420-110C>G,\N,\N,22/53,Unknown significance,\N,intron_variant,1.212,0.002,1KG_EAS_AF,COL2A1
287840,12:48380336:G>GC,NM_001844.4:c.1420-111_1420-110insG,\N,\N,22/53,Benign,\N,intron_variant,2.891,0.0151,1KG_AFR_AF,COL2A1
287841,12:48380339:G>C,NM_001844.4:c.1420-113C>G,\N,\N,22/53,Unknown significance,\N,intron_variant,2.858,0.001,1KG_SAS_AF,COL2A1
287842,12:48380339:G>T,NM_001844.4:c.1420-113C>A,\N,\N,22/53,Unknown significance,\N,intron_variant,4.524,0.002,1KG_EAS_AF,COL2A1
287843,12:48380359:T>C,NM_001844.4:c.1420-133A>G,\N,\N,22/53,Unknown significance,\N,intron_variant,2.557,\N,\N,COL2A1
287844,12:48380366:C>T,NM_001844.4:c.1420-140G>A,\N,\N,22/53,Unknown significance,\N,intron_variant,0.43,\N,\N,COL2A1
287845,12:48380376:C>T,NM_001844.4:c.1420-150G>A,\N,\N,22/53,Unknown significance,\N,intron_variant,3.199,\N,\N,COL2A1
287846,12:48380379:G>C,NM_001844.4:c.1420-153C>G,\N,\N,22/53,Unknown significance,\N,intron_variant,1.129,0.001,1KG_EUR_AF,COL2A1
287847,12:48380392:G>A,NM_001844.4:c.1420-166C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,4.98,\N,\N,COL2A1
287848,12:48380407:T>C,NM_001844.4:c.1420-181A>G,\N,\N,22/53,Unknown significance,\N,intron_variant,3.488,\N,\N,COL2A1
287849,12:48380417:C>A,NM_001844.4:c.1420-191G>T,\N,\N,22/53,Unknown significance,\N,intron_variant,6.326,0.0029,1KG_AMR_AF,COL2A1
287850,12:48380425:C>G,NM_001844.4:c.1419+193G>C,\N,\N,22/53,Unknown significance,\N,intron_variant,1.864,\N,\N,COL2A1
287851,12:48380429:A>C,NM_001844.4:c.1419+189T>G,\N,\N,22/53,Unknown significance,\N,intron_variant,0.718,\N,\N,COL2A1
287852,12:48380436:A>T,NM_001844.4:c.1419+182T>A,\N,\N,22/53,Unknown significance,\N,intron_variant,1.912,\N,\N,COL2A1
287853,12:48380472:T>A,NM_001844.4:c.1419+146A>T,\N,\N,22/53,Unknown significance,\N,intron_variant,11.33,\N,\N,COL2A1
287854,12:48380487:A>G,NM_001844.4:c.1419+131T>C,\N,\N,22/53,Unknown significance,\N,intron_variant,2.598,0.001,1KG_SAS_AF,COL2A1
287855,12:48380489:G>A,NM_001844.4:c.1419+129C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,4.205,\N,\N,COL2A1
287856,12:48380493:A>G,NM_001844.4:c.1419+125T>C,\N,\N,22/53,Unknown significance,\N,intron_variant,2.856,\N,\N,COL2A1
287857,12:48380518:A>T,NM_001844.4:c.1419+100T>A,\N,\N,22/53,Unknown significance,\N,intron_variant,2.473,0.001,1KG_EUR_AF,COL2A1
287858,12:48380520:A>C,NM_001844.4:c.1419+98T>G,\N,\N,22/53,Unknown significance,\N,intron_variant,0.212,\N,\N,COL2A1
287859,12:48380552:G>A,NM_001844.4:c.1419+66C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,3.621,0.000314268,EVS_EA_AF,COL2A1
287860,12:48380558:G>A,NM_001844.4:c.1419+60C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,1.73,0.0014,1KG_AMR_AF,COL2A1
287861,12:48380573:T>C,NM_001844.4:c.1419+45A>G,\N,\N,22/53,Unknown significance,\N,intron_variant,2.543,0.0000149849,EXAC_NFE_AF,COL2A1
287862,12:48380580:G>A,NM_001844.4:c.1419+38C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,4.506,0.000060562,EXAC_SAS_AF,COL2A1
287863,12:48380588:G>A,NM_001844.4:c.1419+30C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,1.074,0.000116279,EVS_EA_AF,COL2A1
287864,12:48380593:C>G,NM_001844.4:c.1419+25G>C,\N,\N,22/53,Unknown significance,\N,intron_variant,3.823,0.0000149844,EXAC_NFE_AF,COL2A1
287865,12:48380596:G>A,NM_001844.4:c.1419+22C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,3.599,0.000060562,EXAC_SAS_AF,COL2A1
287866,12:48380605:G>A,NM_001844.4:c.1419+13C>T,\N,\N,22/53,Unknown significance,\N,intron_variant,11.73,0.00011558,EXAC_EAS_AF,COL2A1
287867,12:48380607:C>A,NM_001844.4:c.1419+11G>T,\N,\N,22/53,Unknown significance,\N,intron_variant,12.58,0.0000863707,EXAC_AMR_AF,COL2A1
287868,12:48380611:TACTC>T,NM_001844.4:c.1419+3_1419+6del,\N,\N,22/53,Pathogenic,Kniest dysplasia,splice_region_variant&intron_variant,21.7,\N,\N,COL2A1
287869,12:48380613:C>A,NM_001844.4:c.1419+5G>T,\N,\N,22/53,Pathogenic,Spondyloepiphyseal dysplasia,splice_region_variant&intron_variant,18.82,\N,\N,COL2A1
287870,12:48380613:C>T,NM_001844.4:c.1419+5G>A,\N,\N,22/53,Pathogenic,Kniest dysplasia,splice_region_variant&intron_variant,18.79,\N,\N,COL2A1
287871,12:48380620:GT>G,NM_001844.4:c.1416del,NP_001835.3:p.Glu472AspfsTer157,22/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,25.3,\N,\N,COL2A1
287872,12:48380628:T>C,NM_001844.4:c.1409A>G,NP_001835.3:p.Lys470Arg,22/54,\N,Unknown significance,\N,missense_variant,23.5,0.000014984,EXAC_NFE_AF,COL2A1
287873,12:48380630:G>A,NM_001844.4:c.1407C>T,NP_001835.3:p.Pro469=,22/54,\N,Unknown significance,\N,synonymous_variant,9.666,0.000014984,EXAC_NFE_AF,COL2A1
287874,12:48380631:G>A,NM_001844.4:c.1406C>T,NP_001835.3:p.Pro469Leu,22/54,\N,Unknown significance,\N,missense_variant,24.6,0.000121124,EXAC_SAS_AF,COL2A1
287875,12:48380634:C>A,NM_001844.4:c.1403G>T,NP_001835.3:p.Gly468Val,22/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,32,\N,\N,COL2A1
287876,12:48380637:T>C,NM_001844.4:c.1400A>G,NP_001835.3:p.Gln467Arg,22/54,\N,Likely benign,\N,missense_variant,15.83,0.000192197,EXAC_AFR_AF,COL2A1
287877,12:48380642:A>C,NM_001844.4:c.1395T>G,NP_001835.3:p.Gly465=,22/54,\N,Unknown significance,\N,synonymous_variant,0.432,0.000014984,EXAC_NFE_AF,COL2A1
287878,12:48380644:C>T,NM_001844.4:c.1393G>A,NP_001835.3:p.Gly465Ser,22/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,33,\N,\N,COL2A1
287879,12:48380652:C>T,NM_001844.4:c.1385G>A,NP_001835.3:p.Gly462Asp,22/54,\N,Pathogenic,Spondyloepimetaphyseal dysplasia| Strudwick,missense_variant,32,\N,\N,COL2A1
287880,12:48380656:C>G,NM_001844.4:c.1381G>C,NP_001835.3:p.Ala461Pro,22/54,\N,Unknown significance,\N,missense_variant,22.9,0.0000960984,EXAC_AFR_AF,COL2A1
287881,12:48380661:C>T,NM_001844.4:c.1376G>A,NP_001835.3:p.Gly459Asp,22/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,32,\N,\N,COL2A1
287882,12:48380662:C>G,NM_001844.4:c.1375G>C,NP_001835.3:p.Gly459Arg,22/54,\N,Pathogenic,Kniest dysplasia,missense_variant,31,\N,\N,COL2A1
287883,12:48380665:G>A,NM_001844.4:c.1372C>T,NP_001835.3:p.Pro458Ser,22/54,\N,Unknown significance,\N,missense_variant,25,0.000115554,EXAC_EAS_AF,COL2A1
287884,12:48380670:C>G,NM_001844.4:c.1367G>C,NP_001835.3:p.Gly456Ala,22/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant&splice_region_variant,27,\N,\N,COL2A1
287885,12:48380671:C>G,NM_001844.4:c.1366G>C,NP_001835.3:p.Gly456Arg,22/54,\N,Pathogenic,Kniest dysplasia,missense_variant&splice_region_variant,31,\N,\N,COL2A1
287886,12:48380682:G>A,NM_001844.4:c.1366-11C>T,\N,\N,21/53,Benign,\N,intron_variant,4.166,0.297429,EXAC_EAS_AF,COL2A1
287887,12:48380684:G>T,NM_001844.4:c.1366-13C>A,\N,\N,21/53,Unknown significance,\N,intron_variant,4.452,0.00151194,EXAC_FIN_AF,COL2A1
287888,12:48380688:G>C,NM_001844.4:c.1366-17C>G,\N,\N,21/53,Unknown significance,\N,intron_variant,3.24,0.000060562,EXAC_SAS_AF,COL2A1
287889,12:48380690:T>G,NM_001844.4:c.1366-19A>C,\N,\N,21/53,Unknown significance,\N,intron_variant,6.548,\N,\N,COL2A1
287890,12:48380691:C>G,NM_001844.4:c.1366-20G>C,\N,\N,21/53,Unknown significance,\N,intron_variant,4.155,\N,\N,COL2A1
287891,12:48380696:C>T,NM_001844.4:c.1366-25G>A,\N,\N,21/53,Unknown significance,\N,intron_variant,2.937,0.000577768,EXAC_EAS_AF,COL2A1
287892,12:48380708:TCCAGGGAG>T,NM_001844.4:c.1366-45_1366-38del,\N,\N,21/53,Unknown significance,\N,intron_variant,5.577,\N,\N,COL2A1
287893,12:48380735:C>A,NM_001844.4:c.1366-64G>T,\N,\N,21/53,Unknown significance,\N,intron_variant,7.374,0.001,1KG_EAS_AF,COL2A1
287894,12:48380738:T>A,NM_001844.4:c.1366-67A>T,\N,\N,21/53,Unknown significance,\N,intron_variant,5.47,\N,\N,COL2A1
287895,12:48380750:C>G,NM_001844.4:c.1366-79G>C,\N,\N,21/53,Unknown significance,\N,intron_variant,4.064,\N,\N,COL2A1
287896,12:48380750:C>T,NM_001844.4:c.1366-79G>A,\N,\N,21/53,Benign,\N,intron_variant,5.611,0.0086,1KG_AMR_AF,COL2A1
287897,12:48380754:G>A,NM_001844.4:c.1366-83C>T,\N,\N,21/53,Unknown significance,\N,intron_variant,2.088,0.0008,1KG_AFR_AF,COL2A1
287898,12:48380765:G>A,NM_001844.4:c.1366-94C>T,\N,\N,21/53,Unknown significance,\N,intron_variant,3.971,0.001,1KG_EAS_AF,COL2A1
287899,12:48380799:G>A,NM_001844.4:c.1365+62C>T,\N,\N,21/53,Unknown significance,\N,intron_variant,3.707,\N,\N,COL2A1
287900,12:48380814:GACTCCAGAGATGTC>G,NM_001844.4:c.1365+33_1365+46del,\N,\N,21/53,Unknown significance,\N,intron_variant,7.412,0.0023,1KG_AFR_AF,COL2A1
287901,12:48380815:A>T,NM_001844.4:c.1365+46T>A,\N,\N,21/53,Unknown significance,\N,intron_variant,6.628,0.0000149912,EXAC_NFE_AF,COL2A1
287902,12:48380816:C>G,NM_001844.4:c.1365+45G>C,\N,\N,21/53,Unknown significance,\N,intron_variant,6.808,0.0000149916,EXAC_NFE_AF,COL2A1
287903,12:48380818:C>T,NM_001844.4:c.1365+43G>A,\N,\N,21/53,Unknown significance,\N,intron_variant,7.817,0.000116279,EVS_EA_AF,COL2A1
287904,12:48380821:G>C,NM_001844.4:c.1365+40C>G,\N,\N,21/53,Unknown significance,\N,intron_variant,1.935,0.000226963,EVS_AA_AF,COL2A1
287905,12:48380826:G>A,NM_001844.4:c.1365+35C>T,\N,\N,21/53,Unknown significance,\N,intron_variant,3.442,0.0000149907,EXAC_NFE_AF,COL2A1
287906,12:48380836:C>G,NM_001844.4:c.1365+25G>C,\N,\N,21/53,Unknown significance,\N,intron_variant,2.101,0.000259157,EXAC_AMR_AF,COL2A1
287907,12:48380840:G>A,NM_001844.4:c.1365+21C>T,\N,\N,21/53,Unknown significance,\N,intron_variant,4.893,0.0000149903,EXAC_NFE_AF,COL2A1
287908,12:48380840:G>T,NM_001844.4:c.1365+21C>A,\N,\N,21/53,Unknown significance,\N,intron_variant,2.678,0.0000149903,EXAC_NFE_AF,COL2A1
287909,12:48380850:T>C,NM_001844.4:c.1365+11A>G,\N,\N,21/53,Unknown significance,\N,intron_variant,2.01,0.000115554,EXAC_EAS_AF,COL2A1
287910,12:48380855:T>C,NM_001844.4:c.1365+6A>G,\N,\N,21/53,Unknown significance,\N,splice_region_variant&intron_variant,9.505,0.0000149885,EXAC_NFE_AF,COL2A1
287911,12:48380862:G>A,NM_001844.4:c.1364C>T,NP_001835.3:p.Thr455Met,21/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.9,0.0000962279,EXAC_AFR_AF,COL2A1
287912,12:48380868:C>G,NM_001844.4:c.1358G>C,NP_001835.3:p.Gly453Ala,21/54,\N,Pathogenic,Stickler syndrome,missense_variant,28.1,\N,\N,COL2A1
287913,12:48380868:C>A,NM_001844.4:c.1358G>T,NP_001835.3:p.Gly453Val,21/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,33,\N,\N,COL2A1
287914,12:48380868:C>T,NM_001844.4:c.1358G>A,NP_001835.3:p.Gly453Asp,21/54,\N,Pathogenic,Achondrogenesis 2,missense_variant,33,\N,\N,COL2A1
287915,12:48380869:C>T,NM_001844.4:c.1357G>A,NP_001835.3:p.Gly453Ser,21/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,34,\N,\N,COL2A1
287916,12:48380871:T>G,NM_001844.4:c.1355A>C,NP_001835.3:p.Lys452Thr,21/54,\N,Unknown significance,\N,missense_variant,28.3,0.0000149862,EXAC_NFE_AF,COL2A1
287917,12:48380873:C>T,NM_001844.4:c.1353G>A,NP_001835.3:p.Pro451=,21/54,\N,Unknown significance,\N,synonymous_variant,16.2,0.00121124,EXAC_SAS_AF,COL2A1
287918,12:48380874:G>A,NM_001844.4:c.1352C>T,NP_001835.3:p.Pro451Leu,21/54,\N,Unknown significance,\N,missense_variant,23.9,0.000151194,EXAC_FIN_AF,COL2A1
287919,12:48380874:G>C,NM_001844.4:c.1352C>G,NP_001835.3:p.Pro451Arg,21/54,\N,Unknown significance,\N,missense_variant,23.1,0.0000149876,EXAC_NFE_AF,COL2A1
287920,12:48380886:C>G,NM_001844.4:c.1340G>C,NP_001835.3:p.Gly447Ala,21/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,23.8,\N,\N,COL2A1
287921,12:48380887:C>T,NM_001844.4:c.1339G>A,NP_001835.3:p.Gly447Ser,21/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.7,\N,\N,COL2A1
287922,12:48380889:G>A,NM_001844.4:c.1337C>T,NP_001835.3:p.Thr446Ile,21/54,\N,Unknown significance,\N,missense_variant,22.8,0.001,1KG_EAS_AF,COL2A1
287923,12:48380894:A>G,NM_001844.4:c.1332T>C,NP_001835.3:p.Gly444=,21/54,\N,Unknown significance,\N,synonymous_variant,7.007,0.0000149898,EXAC_NFE_AF,COL2A1
287924,12:48380895:C>T,NM_001844.4:c.1331G>A,NP_001835.3:p.Gly444Asp,21/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.4,\N,\N,COL2A1
287925,12:48380899:GA>G,NM_001844.4:c.1326del,NP_001835.3:p.Gln443LysfsTer186,21/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,28.3,\N,\N,COL2A1
287926,12:48380903:G>A,NM_001844.4:c.1323C>T,NP_001835.3:p.Gly441=,21/54,\N,Unknown significance,\N,synonymous_variant,10.15,0.000060562,EXAC_SAS_AF,COL2A1
287927,12:48380905:C>A,NM_001844.4:c.1321G>T,NP_001835.3:p.Gly441Cys,21/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.7,\N,\N,COL2A1
287928,12:48380911:G>A,NM_001844.4:c.1315C>T,NP_001835.3:p.Pro439Ser,21/54,\N,Unknown significance,\N,missense_variant,20.2,0.000115554,EXAC_EAS_AF,COL2A1
287929,12:48380912:G>A,NM_001844.4:c.1314C>T,NP_001835.3:p.Gly438=,21/54,\N,Unknown significance,\N,synonymous_variant,7.711,0.000288628,EXAC_AFR_AF,COL2A1
287930,12:48380912:GC>G,NM_001844.4:c.1313del,NP_001835.3:p.Gly438AlafsTer191,21/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
287931,12:48380913:CCC>TG,NM_001844.4:c.1311_1313delinsCA,NP_001835.3:p.Gly438ThrfsTer191,21/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,\N,\N,\N,COL2A1
287932,12:48380914:C>T,NM_001844.4:c.1312G>A,NP_001835.3:p.Gly438Ser,21/54,\N,Pathogenic,Spondyloepiphyseal dysplasia congenita,missense_variant,25.7,\N,\N,COL2A1
287933,12:48380917:G>A,NM_001844.4:c.1309C>T,NP_001835.3:p.Arg437Trp,21/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,28,\N,\N,COL2A1
287934,12:48380921:C>A,NM_001844.4:c.1305G>T,NP_001835.3:p.Gly435=,21/54,\N,Unknown significance,\N,synonymous_variant,12.89,0.0000149912,EXAC_NFE_AF,COL2A1
287935,12:48380926:G>A,NM_001844.4:c.1300C>T,NP_001835.3:p.Pro434Ser,21/54,\N,Unknown significance,\N,missense_variant,22.5,0.002,1KG_EUR_AF,COL2A1
287936,12:48380927:G>A,NM_001844.4:c.1299C>T,NP_001835.3:p.Phe433=,21/54,\N,Unknown significance,\N,synonymous_variant,8.593,0.000060562,EXAC_SAS_AF,COL2A1
287937,12:48380929:AGCCAGGAGCACCAGCAAT>A,NM_001844.4:c.1279_1296del,NP_001835.3:p.Ile427_Gly432del,21/54,\N,Pathogenic,Kniest dysplasia,inframe_deletion,23,\N,\N,COL2A1
287938,12:48380939:A>G,NM_001844.4:c.1287T>C,NP_001835.3:p.Gly429=,21/54,\N,Unknown significance,\N,synonymous_variant,7.521,0.0043,1KG_AMR_AF,COL2A1
287939,12:48380940:C>T,NM_001844.4:c.1286G>A,NP_001835.3:p.Gly429Asp,21/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26,\N,\N,COL2A1
287940,12:48380948:G>T,NM_001844.4:c.1278C>A,NP_001835.3:p.Gly426=,21/54,\N,Unknown significance,\N,synonymous_variant,4.235,0.0000149948,EXAC_NFE_AF,COL2A1
287941,12:48380950:C>G,NM_001844.4:c.1276G>C,NP_001835.3:p.Gly426Arg,21/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,25,\N,\N,COL2A1
287942,12:48380952:G>A,NM_001844.4:c.1274C>T,NP_001835.3:p.Pro425Leu,21/54,\N,Unknown significance,\N,missense_variant,23.3,0.000226963,EVS_AA_AF,COL2A1
287943,12:48380954:A>T,NM_001844.4:c.1272T>A,NP_001835.3:p.Ala424=,21/54,\N,Unknown significance,\N,synonymous_variant,3.274,\N,\N,COL2A1
287944,12:48380963:T>G,NM_001844.4:c.1267-4A>C,\N,\N,20/53,Unknown significance,\N,splice_region_variant&intron_variant,5.167,0.0000149988,EXAC_NFE_AF,COL2A1
287945,12:48380970:GAGA>G,NM_001844.4:c.1267-14_1267-12del,\N,\N,20/53,Unknown significance,\N,intron_variant,0.977,0.0000450005,EXAC_NFE_AF,COL2A1
287946,12:48380983:G>A,NM_001844.4:c.1267-24C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,5.562,0.0000149993,EXAC_NFE_AF,COL2A1
287947,12:48380989:C>T,NM_001844.4:c.1267-30G>A,\N,\N,20/53,Unknown significance,\N,intron_variant,9.397,0.000924855,EXAC_EAS_AF,COL2A1
287948,12:48380991:G>A,NM_001844.4:c.1267-32C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,11.31,0.000226963,EVS_AA_AF,COL2A1
287949,12:48380992:G>A,NM_001844.4:c.1267-33C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,9.709,0.0000605767,EXAC_SAS_AF,COL2A1
287950,12:48380994:G>A,NM_001844.4:c.1267-35C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,6.138,\N,\N,COL2A1
287951,12:48380997:G>A,NM_001844.4:c.1267-38C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,5.138,\N,\N,COL2A1
287952,12:48381004:G>T,NM_001844.4:c.1267-45C>A,\N,\N,20/53,Unknown significance,\N,intron_variant,7.344,0.0000450032,EXAC_NFE_AF,COL2A1
287953,12:48381008:G>A,NM_001844.4:c.1266+44C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,9.717,0.0043,1KG_AMR_AF,COL2A1
287954,12:48381010:C>T,NM_001844.4:c.1266+42G>A,\N,\N,20/53,Unknown significance,\N,intron_variant,9.586,0.001,1KG_EAS_AF,COL2A1
287955,12:48381012:G>C,NM_001844.4:c.1266+40C>G,\N,\N,20/53,Unknown significance,\N,intron_variant,0.41,0.0000865651,EXAC_AMR_AF,COL2A1
287956,12:48381013:G>A,NM_001844.4:c.1266+39C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,2.936,0.00166465,EXAC_FIN_AF,COL2A1
287957,12:48381015:C>T,NM_001844.4:c.1266+37G>A,\N,\N,20/53,Unknown significance,\N,intron_variant,6.388,\N,\N,COL2A1
287958,12:48381019:C>T,NM_001844.4:c.1266+33G>A,\N,\N,20/53,Unknown significance,\N,intron_variant,7.457,\N,\N,COL2A1
287959,12:48381020:C>T,NM_001844.4:c.1266+32G>A,\N,\N,20/53,Unknown significance,\N,intron_variant,1.817,0.000096432,EXAC_AFR_AF,COL2A1
287960,12:48381021:TG>T,NM_001844.4:c.1266+30del,\N,\N,20/53,Unknown significance,\N,intron_variant,4.375,0.000346821,EXAC_EAS_AF,COL2A1
287961,12:48381022:G>C,NM_001844.4:c.1266+30C>G,\N,\N,20/53,Unknown significance,\N,intron_variant,1.539,0.0000865951,EXAC_AMR_AF,COL2A1
287962,12:48381023:G>A,NM_001844.4:c.1266+29C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,5.383,0.000115687,EXAC_EAS_AF,COL2A1
287963,12:48381027:AG>A,NM_001844.4:c.1266+24del,\N,\N,20/53,Unknown significance,\N,intron_variant,1.204,0.000015002,EXAC_NFE_AF,COL2A1
287964,12:48381028:G>A,NM_001844.4:c.1266+24C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,2.78,\N,\N,COL2A1
287965,12:48381030:A>C,NM_001844.4:c.1266+22T>G,\N,\N,20/53,Unknown significance,\N,intron_variant,1.711,0.000096432,EXAC_AFR_AF,COL2A1
287966,12:48381032:AG>A,NM_001844.4:c.1266+19del,\N,\N,20/53,Benign,\N,intron_variant,1.788,0.0157189,EXAC_EAS_AF,COL2A1
287967,12:48381034:T>G,NM_001844.4:c.1266+18A>C,\N,\N,20/53,Unknown significance,\N,intron_variant,6.806,0.0000150065,EXAC_NFE_AF,COL2A1
287968,12:48381038:C>T,NM_001844.4:c.1266+14G>A,\N,\N,20/53,Unknown significance,\N,intron_variant,1.846,0.0015,1KG_AFR_AF,COL2A1
287969,12:48381039:G>A,NM_001844.4:c.1266+13C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,3.167,0.002,1KG_SAS_AF,COL2A1
287970,12:48381039:G>C,NM_001844.4:c.1266+13C>G,\N,\N,20/53,Unknown significance,\N,intron_variant,0.634,0.000151423,EXAC_FIN_AF,COL2A1
287971,12:48381041:G>A,NM_001844.4:c.1266+11C>T,\N,\N,20/53,Unknown significance,\N,intron_variant,2.739,0.00011558,EXAC_EAS_AF,COL2A1
287972,12:48381045:C>T,NM_001844.4:c.1266+7G>A,\N,\N,20/53,Benign,\N,splice_region_variant&intron_variant,15.96,0.0215116,EVS_EA_AF,COL2A1
287973,12:48381050:AC>A,NM_001844.4:c.1266+1del,\N,\N,20/53,Pathogenic,Kniest dysplasia,splice_donor_variant,26.4,\N,\N,COL2A1
287974,12:48381051:C>G,NM_001844.4:c.1266+1G>C,\N,\N,20/53,Pathogenic,Kniest dysplasia,splice_donor_variant,26.9,\N,\N,COL2A1
287975,12:48381062:TTGGCTC>CACACACAACACTCACA,NM_001844.4:c.1250_1256delinsTGTGAGTGTTGTGTGTG,NP_001835.3:p.Gly417ValfsTer2,20/54,\N,Pathogenic,Stickler syndrome,stop_gained&frameshift_variant,\N,\N,\N,COL2A1
287976,12:48381087:C>T,NM_001844.4:c.1231G>A,NP_001835.3:p.Gly411Arg,20/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,26.3,\N,\N,COL2A1
287977,12:48381089:G>A,NM_001844.4:c.1229C>T,NP_001835.3:p.Pro410Leu,20/54,\N,Unknown significance,\N,missense_variant,25.3,0.000015067,EXAC_NFE_AF,COL2A1
287978,12:48381090:G>T,NM_001844.4:c.1228C>A,NP_001835.3:p.Pro410Thr,20/54,\N,Unknown significance,\N,missense_variant,22.7,0.0000150666,EXAC_NFE_AF,COL2A1
287979,12:48381091:G>T,NM_001844.4:c.1227C>A,NP_001835.3:p.Asn409Lys,20/54,\N,Unknown significance,\N,missense_variant,17.59,0.0008,1KG_AFR_AF,COL2A1
287980,12:48381092:T>C,NM_001844.4:c.1226A>G,NP_001835.3:p.Asn409Ser,20/54,\N,Unknown significance,\N,missense_variant,12.16,0.000183083,EXAC_SAS_AF,COL2A1
287981,12:48381095:C>T,NM_001844.4:c.1223G>A,NP_001835.3:p.Gly408Asp,20/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant&splice_region_variant,25.6,\N,\N,COL2A1
287982,12:48381098:T>C,NM_001844.4:c.1222-2A>G,\N,\N,19/53,Pathogenic,Arthroophthalmopathy,splice_acceptor_variant,25.1,\N,\N,COL2A1
287983,12:48381106:G>T,NM_001844.4:c.1222-10C>A,\N,\N,19/53,Unknown significance,\N,intron_variant,9.888,0.000350222,EXAC_EAS_AF,COL2A1
287984,12:48381126:G>A,NM_001844.4:c.1222-30C>T,\N,\N,19/53,Unknown significance,\N,intron_variant,11.22,0.0000152849,EXAC_NFE_AF,COL2A1
287985,12:48381127:C>T,NM_001844.4:c.1222-31G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,12.57,0.0000152905,EXAC_NFE_AF,COL2A1
287986,12:48381131:G>A,NM_001844.4:c.1222-35C>T,\N,\N,19/53,Unknown significance,\N,intron_variant,13.71,0.0008,1KG_AFR_AF,COL2A1
287987,12:48381131:G>T,NM_001844.4:c.1222-35C>A,\N,\N,19/53,Unknown significance,\N,intron_variant,12.36,0.0000901063,EXAC_AMR_AF,COL2A1
287988,12:48381139:C>A,NM_001844.4:c.1222-43G>T,\N,\N,19/53,Unknown significance,\N,intron_variant,18.43,0.0031,1KG_SAS_AF,COL2A1
287989,12:48381143:A>G,NM_001844.4:c.1222-47T>C,\N,\N,19/53,Unknown significance,\N,intron_variant,16.9,0.0000924898,EXAC_AMR_AF,COL2A1
287990,12:48381145:C>A,NM_001844.4:c.1222-49G>T,\N,\N,19/53,Unknown significance,\N,intron_variant,16.21,0.0000156602,EXAC_NFE_AF,COL2A1
287991,12:48381148:C>T,NM_001844.4:c.1222-52G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,15.85,\N,\N,COL2A1
287992,12:48381158:C>T,NM_001844.4:c.1222-62G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,11.51,\N,\N,COL2A1
287993,12:48381191:C>T,NM_001844.4:c.1222-95G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,11.48,0.0008,1KG_AFR_AF,COL2A1
287994,12:48381194:T>C,NM_001844.4:c.1222-98A>G,\N,\N,19/53,Unknown significance,\N,intron_variant,10.14,0.0041,1KG_SAS_AF,COL2A1
287995,12:48381196:C>T,NM_001844.4:c.1222-100G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,11.17,0.0008,1KG_AFR_AF,COL2A1
287996,12:48381261:G>C,NM_001844.4:c.1221+133C>G,\N,\N,19/53,Unknown significance,\N,intron_variant,2.708,0.001,1KG_SAS_AF,COL2A1
287997,12:48381312:A>G,NM_001844.4:c.1221+82T>C,\N,\N,19/53,Unknown significance,\N,intron_variant,0.103,\N,\N,COL2A1
287998,12:48381350:C>T,NM_001844.4:c.1221+44G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,8.982,0.000036665,EXAC_NFE_AF,COL2A1
287999,12:48381352:C>T,NM_001844.4:c.1221+42G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,9.207,\N,\N,COL2A1
288000,12:48381362:A>AC,NM_001844.4:c.1221+31dup,\N,\N,19/53,Unknown significance,\N,intron_variant,0.484,0.0023,1KG_AFR_AF,COL2A1
288001,12:48381362:A>C,NM_001844.4:c.1221+32T>G,\N,\N,19/53,Unknown significance,\N,intron_variant,0.969,0.0000351469,EXAC_NFE_AF,COL2A1
288002,12:48381362:AC>A,NM_001844.4:c.1221+31del,\N,\N,19/53,Unknown significance,\N,intron_variant,1.463,0.000352983,EXAC_SAS_AF,COL2A1
288003,12:48381366:C>T,NM_001844.4:c.1221+28G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,6.413,0.00036846,EXAC_FIN_AF,COL2A1
288004,12:48381367:C>G,NM_001844.4:c.1221+27G>C,\N,\N,19/53,Unknown significance,\N,intron_variant,4.479,0.0000315557,EXAC_NFE_AF,COL2A1
288005,12:48381368:C>A,NM_001844.4:c.1221+26G>T,\N,\N,19/53,Unknown significance,\N,intron_variant,2.979,0.000218627,EXAC_NFE_AF,COL2A1
288006,12:48381372:G>A,NM_001844.4:c.1221+22C>T,\N,\N,19/53,Unknown significance,\N,intron_variant,7.797,0.000232612,EVS_EA_AF,COL2A1
288007,12:48381373:C>T,NM_001844.4:c.1221+21G>A,\N,\N,19/53,Unknown significance,\N,intron_variant,8.699,0.00258861,EXAC_EAS_AF,COL2A1
288008,12:48381374:C>G,NM_001844.4:c.1221+20G>C,\N,\N,19/53,Benign,\N,intron_variant,6.184,0.0193864,EXAC_AFR_AF,COL2A1
288009,12:48381382:A>C,NM_001844.4:c.1221+12T>G,\N,\N,19/53,Unknown significance,\N,intron_variant,11.09,0.0000511012,EXAC_NFE_AF,COL2A1
288010,12:48381389:CTTACGGA>C,NM_001844.4:c.1219_1221+4del,\N,19/54,19/53,Pathogenic,Stickler syndrome,splice_donor_variant&coding_sequence_variant&intron_variant,34,\N,\N,COL2A1
288011,12:48381392:AC>A,NM_001844.4:c.1221+1del,\N,\N,19/53,Pathogenic,Stickler syndrome,splice_donor_variant,26.5,\N,\N,COL2A1
288012,12:48381393:C>G,NM_001844.4:c.1221+1G>C,\N,\N,19/53,Pathogenic,Stickler syndrome,splice_donor_variant,26.9,\N,\N,COL2A1
288013,12:48381393:C>T,NM_001844.4:c.1221+1G>A,\N,\N,19/53,Pathogenic,Stickler syndrome,splice_donor_variant,27.7,\N,\N,COL2A1
288014,12:48381394:G>A,NM_001844.4:c.1221C>T,NP_001835.3:p.Ser407=,19/54,\N,Benign,\N,splice_region_variant&synonymous_variant,16.97,0.0173665,EXAC_FIN_AF,COL2A1
288015,12:48381394:G>C,NM_001844.4:c.1221C>G,NP_001835.3:p.Ser407=,19/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.81,0.000319421,EXAC_AMR_AF,COL2A1
288016,12:48381400:AC>A,NM_001844.4:c.1214del,NP_001835.3:p.Gly405ValfsTer224,19/54,\N,Pathogenic,Stickler syndrome type 1,frameshift_variant,\N,\N,\N,COL2A1
288017,12:48381401:C>T,NM_001844.4:c.1214G>A,NP_001835.3:p.Gly405Asp,19/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.7,\N,\N,COL2A1
288018,12:48381410:C>T,NM_001844.4:c.1205G>A,NP_001835.3:p.Gly402Glu,19/54,\N,Pathogenic,Hypochondrogenesis,missense_variant,26.1,\N,\N,COL2A1
288019,12:48381415:G>GGACCCAGGA,NM_001844.4:c.1191_1199dup,NP_001835.3:p.Ser400_Gly402dup,19/54,\N,Pathogenic,Stickler syndrome,inframe_insertion,\N,\N,\N,COL2A1
288020,12:48381415:G>A,NM_001844.4:c.1200C>T,NP_001835.3:p.Ser400=,19/54,\N,Unknown significance,\N,synonymous_variant,11.72,0.000127389,EXAC_EAS_AF,COL2A1
288021,12:48381425:G>A,NM_001844.4:c.1190C>T,NP_001835.3:p.Thr397Ile,19/54,\N,Unknown significance,\N,missense_variant,18.52,0.0000693289,EXAC_SAS_AF,COL2A1
288022,12:48381428:C>A,NM_001844.4:c.1187G>T,NP_001835.3:p.Gly396Val,19/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.5,\N,\N,COL2A1
288023,12:48381432:G>T,NM_001844.4:c.1183C>A,NP_001835.3:p.Pro395Thr,19/54,\N,Unknown significance,\N,missense_variant,13.59,0.000137817,EXAC_SAS_AF,COL2A1
288024,12:48381438:C>T,NM_001844.4:c.1177G>A,NP_001835.3:p.Gly393Ser,19/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,26.7,\N,\N,COL2A1
288025,12:48381439:G>A,NM_001844.4:c.1176C>T,NP_001835.3:p.Arg392=,19/54,\N,Benign,\N,synonymous_variant,10.71,0.0058,1KG_AMR_AF,COL2A1
288026,12:48381440:C>T,NM_001844.4:c.1175G>A,NP_001835.3:p.Arg392His,19/54,\N,Unknown significance,\N,missense_variant,27.1,0.000432713,EXAC_FIN_AF,COL2A1
288027,12:48381442:AG>A,NM_001844.4:c.1172del,NP_001835.3:p.Pro391LeufsTer238,19/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,33,\N,\N,COL2A1
288028,12:48381453:C>T,NM_001844.4:c.1162G>A,NP_001835.3:p.Ala388Thr,19/54,\N,Unknown significance,\N,missense_variant,23.4,0.0000694252,EXAC_SAS_AF,COL2A1
288029,12:48381466:A>G,NM_001844.4:c.1149T>C,NP_001835.3:p.Arg383=,19/54,\N,Unknown significance,\N,synonymous_variant,7.847,0.0000707914,EXAC_SAS_AF,COL2A1
288030,12:48381474:C>G,NM_001844.4:c.1141G>C,NP_001835.3:p.Gly381Arg,19/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.4,\N,\N,COL2A1
288031,12:48381477:T>C,NM_001844.4:c.1138A>G,NP_001835.3:p.Thr380Ala,19/54,\N,Unknown significance,\N,missense_variant,15.68,0.000293298,EXAC_SAS_AF,COL2A1
288032,12:48381477:T>TG,NM_001844.4:c.1137dup,NP_001835.3:p.Thr380HisfsTer7,19/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
288033,12:48381482:C>T,NM_001844.4:c.1133G>A,NP_001835.3:p.Gly378Asp,19/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.3,\N,\N,COL2A1
288034,12:48381484:G>A,NM_001844.4:c.1131C>T,NP_001835.3:p.Ala377=,19/54,\N,Unknown significance,\N,synonymous_variant,14.32,0.000116279,EVS_EA_AF,COL2A1
288035,12:48381491:C>T,NM_001844.4:c.1124G>A,NP_001835.3:p.Gly375Asp,19/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant&splice_region_variant,25,\N,\N,COL2A1
288036,12:48381492:C>G,NM_001844.4:c.1123G>C,NP_001835.3:p.Gly375Arg,19/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant&splice_region_variant,25,\N,\N,COL2A1
288037,12:48381493:C>T,NM_001844.4:c.1123-1G>A,\N,\N,18/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,25.7,\N,\N,COL2A1
288038,12:48381506:G>A,NM_001844.4:c.1123-14C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.601,\N,\N,COL2A1
288039,12:48381507:G>A,NM_001844.4:c.1123-15C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.972,\N,\N,COL2A1
288040,12:48381508:G>A,NM_001844.4:c.1123-16C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,0.77,0.0000266326,EXAC_NFE_AF,COL2A1
288041,12:48381513:T>A,NM_001844.4:c.1123-21A>T,\N,\N,18/53,Unknown significance,\N,intron_variant,7.946,\N,\N,COL2A1
288042,12:48381514:G>A,NM_001844.4:c.1123-22C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,3.561,\N,\N,COL2A1
288043,12:48381518:TGAA>T,NM_001844.4:c.1123-29_1123-27del,\N,\N,18/53,Unknown significance,\N,intron_variant,2.295,0.00199203,EXAC_OTH_AF,COL2A1
288044,12:48381523:A>G,NM_001844.4:c.1123-31T>C,\N,\N,18/53,Unknown significance,\N,intron_variant,3.453,\N,\N,COL2A1
288045,12:48381528:G>C,NM_001844.4:c.1123-36C>G,\N,\N,18/53,Unknown significance,\N,intron_variant,1.281,\N,\N,COL2A1
288046,12:48381530:G>C,NM_001844.4:c.1123-38C>G,\N,\N,18/53,Unknown significance,\N,intron_variant,1.366,\N,\N,COL2A1
288047,12:48381582:C>G,NM_001844.4:c.1123-90G>C,\N,\N,18/53,Unknown significance,\N,intron_variant,4.68,\N,\N,COL2A1
288048,12:48381631:C>G,NM_001844.4:c.1123-139G>C,\N,\N,18/53,Unknown significance,\N,intron_variant,1.239,\N,\N,COL2A1
288049,12:48381631:C>T,NM_001844.4:c.1123-139G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,2.537,\N,\N,COL2A1
288050,12:48381632:G>A,NM_001844.4:c.1123-140C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.589,\N,\N,COL2A1
288051,12:48381648:C>T,NM_001844.4:c.1123-156G>A,\N,\N,18/53,Benign,\N,intron_variant,1.6,0.0166,1KG_AFR_AF,COL2A1
288052,12:48381649:G>A,NM_001844.4:c.1123-157C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.494,\N,\N,COL2A1
288053,12:48381653:C>T,NM_001844.4:c.1123-161G>A,\N,\N,18/53,Benign,\N,intron_variant,3.125,0.0287,1KG_AFR_AF,COL2A1
288054,12:48381654:C>T,NM_001844.4:c.1123-162G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,2.53,\N,\N,COL2A1
288055,12:48381655:G>A,NM_001844.4:c.1123-163C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,0.022,0.0038,1KG_AFR_AF,COL2A1
288056,12:48381700:C>T,NM_001844.4:c.1123-208G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,1.563,0.0045,1KG_AFR_AF,COL2A1
288057,12:48381704:T>C,NM_001844.4:c.1123-212A>G,\N,\N,18/53,Unknown significance,\N,intron_variant,4.167,\N,\N,COL2A1
288058,12:48381711:T>C,NM_001844.4:c.1123-219A>G,\N,\N,18/53,Unknown significance,\N,intron_variant,3.506,0.0014,1KG_AMR_AF,COL2A1
288059,12:48381726:A>G,NM_001844.4:c.1123-234T>C,\N,\N,18/53,Unknown significance,\N,intron_variant,2.273,0.002,1KG_EUR_AF,COL2A1
288060,12:48381748:C>T,NM_001844.4:c.1123-256G>A,\N,\N,18/53,Benign,\N,intron_variant,3.629,0.0079,1KG_EAS_AF,COL2A1
288061,12:48381756:G>A,NM_001844.4:c.1123-264C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,3.364,\N,\N,COL2A1
288062,12:48381756:G>C,NM_001844.4:c.1123-264C>G,\N,\N,18/53,Benign,\N,intron_variant,0.642,0.2639,1KG_EAS_AF,COL2A1
288063,12:48381800:G>A,NM_001844.4:c.1123-308C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.731,0.001,1KG_EAS_AF,COL2A1
288064,12:48381827:G>A,NM_001844.4:c.1123-335C>T,\N,\N,18/53,Benign,\N,intron_variant,6.681,0.053,1KG_AFR_AF,COL2A1
288065,12:48381833:G>T,NM_001844.4:c.1123-341C>A,\N,\N,18/53,Unknown significance,\N,intron_variant,6.028,0.001,1KG_EAS_AF,COL2A1
288066,12:48381846:C>T,NM_001844.4:c.1123-354G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,0.942,0.003,1KG_AFR_AF,COL2A1
288067,12:48381847:G>A,NM_001844.4:c.1123-355C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,0.766,0.0008,1KG_AFR_AF,COL2A1
288068,12:48381867:C>T,NM_001844.4:c.1123-375G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,3.186,\N,\N,COL2A1
288069,12:48381871:C>G,NM_001844.4:c.1123-379G>C,\N,\N,18/53,Unknown significance,\N,intron_variant,1.947,\N,\N,COL2A1
288070,12:48381892:T>C,NM_001844.4:c.1123-400A>G,\N,\N,18/53,Unknown significance,\N,intron_variant,5.421,0.001,1KG_SAS_AF,COL2A1
288071,12:48381964:A>G,NM_001844.4:c.1123-472T>C,\N,\N,18/53,Unknown significance,\N,intron_variant,3.13,0.0031,1KG_SAS_AF,COL2A1
288072,12:48381974:C>T,NM_001844.4:c.1123-482G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,1.95,0.0041,1KG_SAS_AF,COL2A1
288073,12:48381975:G>A,NM_001844.4:c.1123-483C>T,\N,\N,18/53,Benign,\N,intron_variant,6.108,0.0454,1KG_AFR_AF,COL2A1
288074,12:48382005:C>A,NM_001844.4:c.1123-513G>T,\N,\N,18/53,Unknown significance,\N,intron_variant,5.155,\N,\N,COL2A1
288075,12:48382096:G>A,NM_001844.4:c.1123-604C>T,\N,\N,18/53,Benign,\N,intron_variant,1.205,0.0461,1KG_AFR_AF,COL2A1
288076,12:48382100:G>A,NM_001844.4:c.1123-608C>T,\N,\N,18/53,Benign,\N,intron_variant,2.614,0.0481,1KG_SAS_AF,COL2A1
288077,12:48382103:T>G,NM_001844.4:c.1123-611A>C,\N,\N,18/53,Unknown significance,\N,intron_variant,5.132,\N,\N,COL2A1
288078,12:48382170:C>A,NM_001844.4:c.1123-678G>T,\N,\N,18/53,Unknown significance,\N,intron_variant,10.17,\N,\N,COL2A1
288079,12:48382212:G>A,NM_001844.4:c.1123-720C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,18.89,0.0023,1KG_AFR_AF,COL2A1
288080,12:48382282:A>C,NM_001844.4:c.1122+729T>G,\N,\N,18/53,Benign,\N,intron_variant,8.429,0.5507,1KG_AFR_AF,COL2A1
288081,12:48382307:G>A,NM_001844.4:c.1122+704C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,16.73,0.0014,1KG_AMR_AF,COL2A1
288082,12:48382339:C>G,NM_001844.4:c.1122+672G>C,\N,\N,18/53,Unknown significance,\N,intron_variant,13.91,0.0008,1KG_AFR_AF,COL2A1
288083,12:48382340:G>A,NM_001844.4:c.1122+671C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,16.47,0.003,1KG_EAS_AF,COL2A1
288084,12:48382379:C>G,NM_001844.4:c.1122+632G>C,\N,\N,18/53,Unknown significance,\N,intron_variant,17.03,\N,\N,COL2A1
288085,12:48382418:T>C,NM_001844.4:c.1122+593A>G,\N,\N,18/53,Unknown significance,\N,intron_variant,13.19,\N,\N,COL2A1
288086,12:48382426:C>T,NM_001844.4:c.1122+585G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,21.3,0.001,1KG_SAS_AF,COL2A1
288087,12:48382437:C>T,NM_001844.4:c.1122+574G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,20.5,0.001,1KG_EAS_AF,COL2A1
288088,12:48382445:C>T,NM_001844.4:c.1122+566G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,12.01,\N,\N,COL2A1
288089,12:48382446:G>A,NM_001844.4:c.1122+565C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,9.682,\N,\N,COL2A1
288090,12:48382457:A>G,NM_001844.4:c.1122+554T>C,\N,\N,18/53,Benign,\N,intron_variant,16.24,0.0696,1KG_EUR_AF,COL2A1
288091,12:48382477:G>T,NM_001844.4:c.1122+534C>A,\N,\N,18/53,Benign,\N,intron_variant,6.788,0.2629,1KG_EAS_AF,COL2A1
288092,12:48382501:C>T,NM_001844.4:c.1122+510G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,21.2,\N,\N,COL2A1
288093,12:48382505:C>T,NM_001844.4:c.1122+506G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,21.5,0.0023,1KG_AFR_AF,COL2A1
288094,12:48382535:G>A,NM_001844.4:c.1122+476C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,2.114,\N,\N,COL2A1
288095,12:48382573:G>C,NM_001844.4:c.1122+438C>G,\N,\N,18/53,Benign,\N,intron_variant,1.874,0.3698,1KG_EUR_AF,COL2A1
288096,12:48382589:G>A,NM_001844.4:c.1122+422C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.153,0.0014,1KG_AMR_AF,COL2A1
288097,12:48382598:C>T,NM_001844.4:c.1122+413G>A,\N,\N,18/53,Benign,\N,intron_variant,7.939,0.059,1KG_AFR_AF,COL2A1
288098,12:48382635:C>T,NM_001844.4:c.1122+376G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,2.47,0.001,1KG_EAS_AF,COL2A1
288099,12:48382643:G>A,NM_001844.4:c.1122+368C>T,\N,\N,18/53,Benign,\N,intron_variant,0.078,0.0144,1KG_AFR_AF,COL2A1
288100,12:48382682:AG>A,NM_001844.4:c.1122+328del,\N,\N,18/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288101,12:48382723:T>G,NM_001844.4:c.1122+288A>C,\N,\N,18/53,Benign,\N,intron_variant,4.893,0.0194,1KG_SAS_AF,COL2A1
288102,12:48382729:G>T,NM_001844.4:c.1122+282C>A,\N,\N,18/53,Unknown significance,\N,intron_variant,1.623,\N,\N,COL2A1
288103,12:48382736:G>A,NM_001844.4:c.1122+275C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,3.652,0.0014,1KG_AMR_AF,COL2A1
288104,12:48382746:G>A,NM_001844.4:c.1122+265C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,0.954,\N,\N,COL2A1
288105,12:48382770:C>G,NM_001844.4:c.1122+241G>C,\N,\N,18/53,Unknown significance,\N,intron_variant,6.586,\N,\N,COL2A1
288106,12:48382830:G>A,NM_001844.4:c.1122+181C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,4.685,\N,\N,COL2A1
288107,12:48382838:G>A,NM_001844.4:c.1122+173C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.435,\N,\N,COL2A1
288108,12:48382839:C>T,NM_001844.4:c.1122+172G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,0.887,0.0008,1KG_AFR_AF,COL2A1
288109,12:48382869:G>T,NM_001844.4:c.1122+142C>A,\N,\N,18/53,Unknown significance,\N,intron_variant,2.037,0.001,1KG_SAS_AF,COL2A1
288110,12:48382882:G>C,NM_001844.4:c.1122+129C>G,\N,\N,18/53,Unknown significance,\N,intron_variant,3.499,\N,\N,COL2A1
288111,12:48382909:G>T,NM_001844.4:c.1122+102C>A,\N,\N,18/53,Unknown significance,\N,intron_variant,0.408,\N,\N,COL2A1
288112,12:48382914:G>A,NM_001844.4:c.1122+97C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,5.09,0.001,1KG_SAS_AF,COL2A1
288113,12:48382924:T>C,NM_001844.4:c.1122+87A>G,\N,\N,18/53,Benign,\N,intron_variant,6.182,0.0112,1KG_SAS_AF,COL2A1
288114,12:48382928:T>C,NM_001844.4:c.1122+83A>G,\N,\N,18/53,Unknown significance,\N,intron_variant,3.69,0.0029,1KG_AMR_AF,COL2A1
288115,12:48382952:C>T,NM_001844.4:c.1122+59G>A,\N,\N,18/53,Benign,\N,intron_variant,3.735,0.006,1KG_EAS_AF,COL2A1
288116,12:48382953:G>A,NM_001844.4:c.1122+58C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,1.515,\N,\N,COL2A1
288117,12:48382961:G>C,NM_001844.4:c.1122+50C>G,\N,\N,18/53,Unknown significance,\N,intron_variant,0.824,0.000518135,EXAC_EAS_AF,COL2A1
288118,12:48382971:C>T,NM_001844.4:c.1122+40G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,3.238,0.000251004,EXAC_SAS_AF,COL2A1
288119,12:48382972:G>A,NM_001844.4:c.1122+39C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,0.364,0.0000595403,EXAC_NFE_AF,COL2A1
288120,12:48382974:C>A,NM_001844.4:c.1122+37G>T,\N,\N,18/53,Unknown significance,\N,intron_variant,4.303,0.0000197644,EXAC_NFE_AF,COL2A1
288121,12:48382983:G>A,NM_001844.4:c.1122+28C>T,\N,\N,18/53,Unknown significance,\N,intron_variant,2.144,0.0014,1KG_AMR_AF,COL2A1
288122,12:48382988:T>C,NM_001844.4:c.1122+23A>G,\N,\N,18/53,Unknown significance,\N,intron_variant,0.084,0.0000192093,EXAC_NFE_AF,COL2A1
288123,12:48382992:T>C,NM_001844.4:c.1122+19A>G,\N,\N,18/53,Unknown significance,\N,intron_variant,3.292,0.000147929,EXAC_AMR_AF,COL2A1
288124,12:48382995:A>G,NM_001844.4:c.1122+16T>C,\N,\N,18/53,Unknown significance,\N,intron_variant,3.724,0.0000187928,EXAC_NFE_AF,COL2A1
288125,12:48382996:C>T,NM_001844.4:c.1122+15G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,6.179,0.000116279,EVS_EA_AF,COL2A1
288126,12:48382997:A>G,NM_001844.4:c.1122+14T>C,\N,\N,18/53,Unknown significance,\N,intron_variant,5.44,0.000155909,EXAC_EAS_AF,COL2A1
288127,12:48382999:C>A,NM_001844.4:c.1122+12G>T,\N,\N,18/53,Unknown significance,\N,intron_variant,9.631,0.000398661,EXAC_SAS_AF,COL2A1
288128,12:48382999:C>T,NM_001844.4:c.1122+12G>A,\N,\N,18/53,Unknown significance,\N,intron_variant,9.234,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL2A1
288129,12:48383006:C>T,NM_001844.4:c.1122+5G>A,\N,\N,18/53,Unknown significance,\N,splice_region_variant&intron_variant,13.27,0.000116279,EVS_EA_AF,COL2A1
288130,12:48383018:C>T,NM_001844.4:c.1115G>A,NP_001835.3:p.Gly372Glu,18/54,\N,Likely pathogenic,\N,missense_variant,25.5,\N,\N,COL2A1
288131,12:48383019:C>T,NM_001844.4:c.1114G>A,NP_001835.3:p.Gly372Arg,18/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,25.8,\N,\N,COL2A1
288132,12:48383027:C>T,NM_001844.4:c.1106G>A,NP_001835.3:p.Gly369Asp,18/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.8,\N,\N,COL2A1
288133,12:48383041:A>G,NM_001844.4:c.1092T>C,NP_001835.3:p.Gly364=,18/54,\N,Unknown significance,\N,synonymous_variant,10.83,0.00010917,EXAC_AMR_AF,COL2A1
288134,12:48383045:C>T,NM_001844.4:c.1088G>A,NP_001835.3:p.Gly363Asp,18/54,\N,Unknown significance,\N,missense_variant,25.8,0.0000168828,EXAC_NFE_AF,COL2A1
288135,12:48383055:C>T,NM_001844.4:c.1078G>A,NP_001835.3:p.Gly360Ser,18/54,\N,Unknown significance,\N,missense_variant,25.9,\N,\N,COL2A1
288136,12:48383056:G>A,NM_001844.4:c.1077C>T,NP_001835.3:p.Val359=,18/54,\N,Unknown significance,\N,synonymous_variant,13.7,0.000403714,EXAC_FIN_AF,COL2A1
288137,12:48383056:G>C,NM_001844.4:c.1077C>G,NP_001835.3:p.Val359=,18/54,\N,Unknown significance,\N,synonymous_variant,12.06,0.0000508751,EXAC_NFE_AF,COL2A1
288138,12:48383058:C>A,NM_001844.4:c.1075G>T,NP_001835.3:p.Val359Phe,18/54,\N,Unknown significance,\N,missense_variant,15.02,0.0008,1KG_AFR_AF,COL2A1
288139,12:48383058:C>T,NM_001844.4:c.1075G>A,NP_001835.3:p.Val359Ile,18/54,\N,Unknown significance,\N,missense_variant,14.33,0.000148699,EXAC_SAS_AF,COL2A1
288140,12:48383066:T>C,NM_001844.4:c.1069-2A>G,\N,\N,17/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,24,\N,\N,COL2A1
288141,12:48383068:G>A,NM_001844.4:c.1069-4C>T,\N,\N,17/53,Unknown significance,\N,splice_region_variant&intron_variant,5.709,0.0000172265,EXAC_NFE_AF,COL2A1
288142,12:48383072:G>A,NM_001844.4:c.1069-8C>T,\N,\N,17/53,Unknown significance,\N,splice_region_variant&intron_variant,7.344,0.001,1KG_EAS_AF,COL2A1
288143,12:48383074:G>A,NM_001844.4:c.1069-10C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,1.887,0.0000754945,EXAC_SAS_AF,COL2A1
288144,12:48383079:C>T,NM_001844.4:c.1069-15G>A,\N,\N,17/53,Unknown significance,\N,intron_variant,0.982,0.0008,1KG_AFR_AF,COL2A1
288145,12:48383080:G>A,NM_001844.4:c.1069-16C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,0.151,0.000571755,EXAC_EAS_AF,COL2A1
288146,12:48383089:G>A,NM_001844.4:c.1069-25C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,4.164,0.000579039,EXAC_EAS_AF,COL2A1
288147,12:48383091:G>C,NM_001844.4:c.1069-27C>G,\N,\N,17/53,Unknown significance,\N,intron_variant,0.593,0.0000771248,EXAC_SAS_AF,COL2A1
288148,12:48383104:G>T,NM_001844.4:c.1069-40C>A,\N,\N,17/53,Unknown significance,\N,intron_variant,1.356,\N,\N,COL2A1
288149,12:48383115:C>T,NM_001844.4:c.1069-51G>A,\N,\N,17/53,Unknown significance,\N,intron_variant,6.962,0.000246914,EXAC_SAS_AF,COL2A1
288150,12:48383121:G>A,NM_001844.4:c.1069-57C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,2.24,0.0015,1KG_AFR_AF,COL2A1
288151,12:48383125:C>G,NM_001844.4:c.1069-61G>C,\N,\N,17/53,Unknown significance,\N,intron_variant,1.77,\N,\N,COL2A1
288152,12:48383148:C>G,NM_001844.4:c.1069-84G>C,\N,\N,17/53,Unknown significance,\N,intron_variant,5.933,0.0038,1KG_AFR_AF,COL2A1
288153,12:48383173:A>G,NM_001844.4:c.1069-109T>C,\N,\N,17/53,Unknown significance,\N,intron_variant,1.268,0.0014,1KG_AMR_AF,COL2A1
288154,12:48383186:C>A,NM_001844.4:c.1069-122G>T,\N,\N,17/53,Unknown significance,\N,intron_variant,7.939,0.001,1KG_EUR_AF,COL2A1
288155,12:48383223:C>T,NM_001844.4:c.1069-159G>A,\N,\N,17/53,Unknown significance,\N,intron_variant,1.756,\N,\N,COL2A1
288156,12:48383235:A>G,NM_001844.4:c.1069-171T>C,\N,\N,17/53,Benign,\N,intron_variant,0.062,0.5499,1KG_AFR_AF,COL2A1
288157,12:48383247:T>C,NM_001844.4:c.1069-183A>G,\N,\N,17/53,Unknown significance,\N,intron_variant,14.58,\N,\N,COL2A1
288158,12:48383254:G>T,NM_001844.4:c.1069-190C>A,\N,\N,17/53,Unknown significance,\N,intron_variant,14.33,0.003,1KG_AFR_AF,COL2A1
288159,12:48383285:G>A,NM_001844.4:c.1069-221C>T,\N,\N,17/53,Benign,\N,intron_variant,4.42,0.0083,1KG_AFR_AF,COL2A1
288160,12:48383302:T>C,NM_001844.4:c.1069-238A>G,\N,\N,17/53,Unknown significance,\N,intron_variant,2.691,0.001,1KG_EAS_AF,COL2A1
288161,12:48383311:C>G,NM_001844.4:c.1068+233G>C,\N,\N,17/53,Unknown significance,\N,intron_variant,4.915,0.0008,1KG_AFR_AF,COL2A1
288162,12:48383326:T>G,NM_001844.4:c.1068+218A>C,\N,\N,17/53,Unknown significance,\N,intron_variant,9.193,0.001,1KG_EAS_AF,COL2A1
288163,12:48383335:G>A,NM_001844.4:c.1068+209C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,6.042,\N,\N,COL2A1
288164,12:48383360:C>T,NM_001844.4:c.1068+184G>A,\N,\N,17/53,Unknown significance,\N,intron_variant,4.337,0.001,1KG_EUR_AF,COL2A1
288165,12:48383371:G>A,NM_001844.4:c.1068+173C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,3.33,0.001,1KG_SAS_AF,COL2A1
288166,12:48383374:A>G,NM_001844.4:c.1068+170T>C,\N,\N,17/53,Unknown significance,\N,intron_variant,3.336,\N,\N,COL2A1
288167,12:48383388:T>C,NM_001844.4:c.1068+156A>G,\N,\N,17/53,Unknown significance,\N,intron_variant,1.129,0.003,1KG_AFR_AF,COL2A1
288168,12:48383397:A>T,NM_001844.4:c.1068+147T>A,\N,\N,17/53,Benign,\N,intron_variant,2.022,0.0051,1KG_SAS_AF,COL2A1
288169,12:48383432:A>G,NM_001844.4:c.1068+112T>C,\N,\N,17/53,Unknown significance,\N,intron_variant,2.466,0.002,1KG_SAS_AF,COL2A1
288170,12:48383450:G>A,NM_001844.4:c.1068+94C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,1.729,\N,\N,COL2A1
288171,12:48383479:C>T,NM_001844.4:c.1068+65G>A,\N,\N,17/53,Unknown significance,\N,intron_variant,3.311,\N,\N,COL2A1
288172,12:48383493:C>T,NM_001844.4:c.1068+51G>A,\N,\N,17/53,Benign,\N,intron_variant,0.408,0.0719,1KG_AFR_AF,COL2A1
288173,12:48383494:G>A,NM_001844.4:c.1068+50C>T,\N,\N,17/53,Unknown significance,\N,intron_variant,1.072,0.00146983,EXAC_AMR_AF,COL2A1
288174,12:48383494:G>C,NM_001844.4:c.1068+50C>G,\N,\N,17/53,Unknown significance,\N,intron_variant,0.124,0.0000150639,EXAC_NFE_AF,COL2A1
288175,12:48383500:T>TA,NM_001844.4:c.1068+43dup,\N,\N,17/53,Unknown significance,\N,intron_variant,1.545,0.0000451943,EXAC_NFE_AF,COL2A1
288176,12:48383515:A>G,NM_001844.4:c.1068+29T>C,\N,\N,17/53,Unknown significance,\N,intron_variant,2.029,0.00017298,EXAC_AMR_AF,COL2A1
288177,12:48383519:CCTG>C,NM_001844.4:c.1068+22_1068+24del,\N,\N,17/53,Unknown significance,\N,intron_variant,3.813,0.0000605914,EXAC_SAS_AF,COL2A1
288178,12:48383543:C>T,NM_001844.4:c.1068+1G>A,\N,\N,17/53,Pathogenic,Kniest dysplasia,splice_donor_variant,26.3,\N,\N,COL2A1
288179,12:48383544:C>T,NM_001844.4:c.1068G>A,NP_001835.3:p.Pro356=,17/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,18.31,0.003,1KG_AFR_AF,COL2A1
288180,12:48383545:G>A,NM_001844.4:c.1067C>T,NP_001835.3:p.Pro356Leu,17/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.7,0.0014,1KG_AMR_AF,COL2A1
288181,12:48383550:C>A,NM_001844.4:c.1062G>T,NP_001835.3:p.Gly354=,17/54,\N,Unknown significance,\N,synonymous_variant,16.86,\N,\N,COL2A1
288182,12:48383552:C>T,NM_001844.4:c.1060G>A,NP_001835.3:p.Gly354Arg,17/54,\N,Pathogenic,Osteochondrodysplasia,missense_variant,26,\N,\N,COL2A1
288183,12:48383555:CG>C,NM_001844.4:c.1056del,NP_001835.3:p.Ala353GlnfsTer276,17/54,\N,Pathogenic,Stickler syndrome type 1,frameshift_variant,\N,\N,\N,COL2A1
288184,12:48383555:C>T,NM_001844.4:c.1057G>A,NP_001835.3:p.Ala353Thr,17/54,\N,Unknown significance,\N,missense_variant,23.9,0.0000866701,EXAC_AMR_AF,COL2A1
288185,12:48383556:G>A,NM_001844.4:c.1056C>T,NP_001835.3:p.Pro352=,17/54,\N,Unknown significance,\N,synonymous_variant,12.6,0.00151268,EXAC_EAS_AF,COL2A1
288186,12:48383559:GC>G,NM_001844.4:c.1052del,NP_001835.3:p.Gly351AlafsTer278,17/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,frameshift_variant,\N,\N,\N,COL2A1
288187,12:48383559:G>C,NM_001844.4:c.1053C>G,NP_001835.3:p.Gly351=,17/54,\N,Unknown significance,\N,synonymous_variant,9.315,0.0000151053,EXAC_NFE_AF,COL2A1
288188,12:48383560:C>A,NM_001844.4:c.1052G>T,NP_001835.3:p.Gly351Val,17/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.7,\N,\N,COL2A1
288189,12:48383567:G>C,NM_001844.4:c.1045C>G,NP_001835.3:p.Gln349Glu,17/54,\N,Unknown significance,\N,missense_variant,9.798,0.0000606502,EXAC_SAS_AF,COL2A1
288190,12:48383573:C>T,NM_033150.2:c.832G>A,NP_149162.2:p.Asp278Asn,16/53,\N,Unknown significance,\N,missense_variant,24.6,0.001,1KG_SAS_AF,COL2A1
288191,12:48383579:C>T,NM_001844.4:c.1033G>A,NP_001835.3:p.Gly345Ser,17/54,\N,Unknown significance,\N,missense_variant,26.1,0.0000606502,EXAC_SAS_AF,COL2A1
288192,12:48383579:CT>C,NM_001844.4:c.1032del,NP_001835.3:p.Gly345AlafsTer284,17/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,23.1,\N,\N,COL2A1
288193,12:48383582:G>A,NM_001844.4:c.1030C>T,NP_001835.3:p.Arg344Ter,17/54,\N,Pathogenic,Stickler syndrome,stop_gained,40,\N,\N,COL2A1
288194,12:48383583:G>A,NM_001844.4:c.1029C>T,NP_001835.3:p.Ala343=,17/54,\N,Unknown significance,\N,synonymous_variant,12.15,0.000226963,EVS_AA_AF,COL2A1
288195,12:48383590:T>G,NM_001844.4:c.1024-2A>C,\N,\N,16/53,Pathogenic,Kniest dysplasia,splice_acceptor_variant,24.6,\N,\N,COL2A1
288196,12:48383593:G>A,NM_001844.4:c.1024-5C>T,\N,\N,16/53,Unknown significance,\N,splice_region_variant&intron_variant,10.73,0.0000868056,EXAC_AMR_AF,COL2A1
288197,12:48383603:G>A,NM_001844.4:c.1024-15C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,1.221,0.000293542,EXAC_AFR_AF,COL2A1
288198,12:48383610:C>A,NM_001844.4:c.1024-22G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.47,0.0000606575,EXAC_SAS_AF,COL2A1
288199,12:48383614:G>A,NM_001844.4:c.1024-26C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,9.828,0.0000606649,EXAC_SAS_AF,COL2A1
288200,12:48383618:G>A,NM_001844.4:c.1024-30C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,9.881,0.0008,1KG_AFR_AF,COL2A1
288201,12:48383619:G>A,NM_001844.4:c.1024-31C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,9.408,0.000173671,EXAC_AMR_AF,COL2A1
288202,12:48383620:T>C,NM_001844.4:c.1024-32A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,6.608,0.0000151704,EXAC_NFE_AF,COL2A1
288203,12:48383620:T>G,NM_001844.4:c.1024-32A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,7.943,0.000116686,EXAC_EAS_AF,COL2A1
288204,12:48383621:G>A,NM_001844.4:c.1024-33C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,2.012,0.000116741,EXAC_EAS_AF,COL2A1
288205,12:48383622:C>A,NM_001844.4:c.1024-34G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,5.827,0.0000606796,EXAC_SAS_AF,COL2A1
288206,12:48383626:C>G,NM_001844.4:c.1024-38G>C,\N,\N,16/53,Unknown significance,\N,intron_variant,2.251,0.000116279,EVS_EA_AF,COL2A1
288207,12:48383626:C>T,NM_001844.4:c.1024-38G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,3.866,0.000260643,EXAC_AMR_AF,COL2A1
288208,12:48383638:G>A,NM_001844.4:c.1024-50C>T,\N,\N,16/53,Benign,\N,intron_variant,2.793,0.0131639,EVS_AA_AF,COL2A1
288209,12:48383669:C>T,NM_001844.4:c.1024-81G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.937,0.002,1KG_EUR_AF,COL2A1
288210,12:48383697:C>A,NM_001844.4:c.1024-109G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,7.609,0.001,1KG_SAS_AF,COL2A1
288211,12:48383710:G>A,NM_001844.4:c.1024-122C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,0.428,\N,\N,COL2A1
288212,12:48383718:C>T,NM_001844.4:c.1024-130G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,2.219,\N,\N,COL2A1
288213,12:48383740:G>A,NM_001844.4:c.1024-152C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,2.026,\N,\N,COL2A1
288214,12:48383740:G>T,NM_001844.4:c.1024-152C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.065,\N,\N,COL2A1
288215,12:48383785:TA>T,NM_001844.4:c.1024-198del,\N,\N,16/53,Unknown significance,\N,intron_variant,7.807,\N,\N,COL2A1
288216,12:48383787:AT>A,NM_001844.4:c.1024-200del,\N,\N,16/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288217,12:48383789:C>G,NM_001844.4:c.1024-201G>C,\N,\N,16/53,Unknown significance,\N,intron_variant,3.791,\N,\N,COL2A1
288218,12:48383789:CT>C,NM_001844.4:c.1024-202del,\N,\N,16/53,Unknown significance,\N,intron_variant,6.373,\N,\N,COL2A1
288219,12:48383797:G>T,NM_001844.4:c.1024-209C>A,\N,\N,16/53,Benign,\N,intron_variant,0.781,0.3658,1KG_EUR_AF,COL2A1
288220,12:48383804:T>G,NM_001844.4:c.1024-216A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,0.939,\N,\N,COL2A1
288221,12:48383809:G>T,NM_001844.4:c.1024-221C>A,\N,\N,16/53,Benign,\N,intron_variant,1.159,0.059,1KG_AFR_AF,COL2A1
288222,12:48383813:C>T,NM_001844.4:c.1024-225G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.447,\N,\N,COL2A1
288223,12:48383814:G>A,NM_001844.4:c.1024-226C>T,\N,\N,16/53,Benign,\N,intron_variant,0.308,0.3648,1KG_EUR_AF,COL2A1
288224,12:48383818:T>C,NM_001844.4:c.1024-230A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,0.089,\N,\N,COL2A1
288225,12:48383819:C>T,NM_001844.4:c.1024-231G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,2.709,\N,\N,COL2A1
288226,12:48383828:T>C,NM_001844.4:c.1024-240A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,0.032,\N,\N,COL2A1
288227,12:48383829:C>T,NM_001844.4:c.1024-241G>A,\N,\N,16/53,Benign,\N,intron_variant,0.134,0.005,1KG_EUR_AF,COL2A1
288228,12:48383830:G>A,NM_001844.4:c.1024-242C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,0.096,\N,\N,COL2A1
288229,12:48383852:C>T,NM_001844.4:c.1024-264G>A,\N,\N,16/53,Benign,\N,intron_variant,0.12,0.0098,1KG_AFR_AF,COL2A1
288230,12:48383887:T>G,NM_001844.4:c.1024-299A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,4.377,\N,\N,COL2A1
288231,12:48383920:G>A,NM_001844.4:c.1024-332C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,12.36,\N,\N,COL2A1
288232,12:48383922:G>A,NM_001844.4:c.1024-334C>T,\N,\N,16/53,Benign,\N,intron_variant,12.16,0.0099,1KG_EUR_AF,COL2A1
288233,12:48383951:T>TA,NM_001844.4:c.1024-364dup,\N,\N,16/53,Unknown significance,\N,intron_variant,2.812,\N,\N,COL2A1
288234,12:48383953:T>A,NM_001844.4:c.1024-365A>T,\N,\N,16/53,Benign,\N,intron_variant,3.16,0.5567,1KG_AFR_AF,COL2A1
288235,12:48383983:G>T,NM_001844.4:c.1024-395C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,0.553,0.001,1KG_EAS_AF,COL2A1
288236,12:48384082:C>T,NM_001844.4:c.1024-494G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,0.701,0.0031,1KG_SAS_AF,COL2A1
288237,12:48384083:G>A,NM_001844.4:c.1024-495C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,3.238,0.0015,1KG_AFR_AF,COL2A1
288238,12:48384122:T>C,NM_001844.4:c.1024-534A>G,\N,\N,16/53,Benign,\N,intron_variant,1.92,0.556,1KG_AFR_AF,COL2A1
288239,12:48384224:G>A,NM_001844.4:c.1024-636C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,1.825,\N,\N,COL2A1
288240,12:48384344:C>A,NM_001844.4:c.1024-756G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.988,0.0008,1KG_AFR_AF,COL2A1
288241,12:48384345:T>C,NM_001844.4:c.1024-757A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,0.9,\N,\N,COL2A1
288242,12:48384380:G>A,NM_001844.4:c.1024-792C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.95,\N,\N,COL2A1
288243,12:48384398:T>C,NM_001844.4:c.1024-810A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,1.278,\N,\N,COL2A1
288244,12:48384401:G>T,NM_001844.4:c.1024-813C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,0.741,\N,\N,COL2A1
288245,12:48384429:C>G,NM_001844.4:c.1024-841G>C,\N,\N,16/53,Unknown significance,\N,intron_variant,11.29,\N,\N,COL2A1
288246,12:48384436:C>T,NM_001844.4:c.1024-848G>A,\N,\N,16/53,Benign,\N,intron_variant,12.69,0.2629,1KG_EAS_AF,COL2A1
288247,12:48384448:CA>C,NM_001844.4:c.1024-861del,\N,\N,16/53,Benign,\N,intron_variant,6.912,0.0582,1KG_AFR_AF,COL2A1
288248,12:48384504:G>T,NM_001844.4:c.1024-916C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,9.644,0.001,1KG_EAS_AF,COL2A1
288249,12:48384525:G>A,NM_001844.4:c.1024-937C>T,\N,\N,16/53,Benign,\N,intron_variant,14.63,0.0159,1KG_EAS_AF,COL2A1
288250,12:48384551:T>G,NM_001844.4:c.1024-963A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,4.342,\N,\N,COL2A1
288251,12:48384554:T>C,NM_001844.4:c.1024-966A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,1.307,0.004,1KG_EAS_AF,COL2A1
288252,12:48384568:T>C,NM_001844.4:c.1024-980A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,5.92,0.002,1KG_EUR_AF,COL2A1
288253,12:48384580:A>G,NM_001844.4:c.1024-992T>C,\N,\N,16/53,Benign,\N,intron_variant,4.043,0.0356,1KG_AFR_AF,COL2A1
288254,12:48384608:A>G,NM_001844.4:c.1024-1020T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,12.34,\N,\N,COL2A1
288255,12:48384641:G>C,NM_001844.4:c.1024-1053C>G,\N,\N,16/53,Unknown significance,\N,intron_variant,0.44,\N,\N,COL2A1
288256,12:48384650:G>A,NM_001844.4:c.1024-1062C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,7.207,0.002,1KG_SAS_AF,COL2A1
288257,12:48384665:C>T,NM_001844.4:c.1024-1077G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,5.484,\N,\N,COL2A1
288258,12:48384667:T>G,NM_001844.4:c.1024-1079A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,4.547,\N,\N,COL2A1
288259,12:48384687:G>C,NM_001844.4:c.1024-1099C>G,\N,\N,16/53,Unknown significance,\N,intron_variant,0.372,0.0008,1KG_AFR_AF,COL2A1
288260,12:48384691:C>T,NM_001844.4:c.1024-1103G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,2.551,\N,\N,COL2A1
288261,12:48384695:T>A,NM_001844.4:c.1024-1107A>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.89,\N,\N,COL2A1
288262,12:48384715:C>G,NM_001844.4:c.1024-1127G>C,\N,\N,16/53,Benign,\N,intron_variant,5.619,0.0159,1KG_AFR_AF,COL2A1
288263,12:48384756:G>T,NM_001844.4:c.1024-1168C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,18.66,0.0008,1KG_AFR_AF,COL2A1
288264,12:48384757:G>A,NM_001844.4:c.1024-1169C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,20.3,0.001,1KG_SAS_AF,COL2A1
288265,12:48384759:G>A,NM_001844.4:c.1024-1171C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,19.67,\N,\N,COL2A1
288266,12:48384766:G>A,NM_001844.4:c.1024-1178C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,5.565,0.0014,1KG_AMR_AF,COL2A1
288267,12:48384780:A>G,NM_001844.4:c.1024-1192T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,4.203,\N,\N,COL2A1
288268,12:48384787:T>C,NM_001844.4:c.1024-1199A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,1.786,0.001,1KG_EUR_AF,COL2A1
288269,12:48384819:C>T,NM_001844.4:c.1024-1231G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.679,0.001,1KG_EAS_AF,COL2A1
288270,12:48384820:G>A,NM_001844.4:c.1024-1232C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,2.568,0.0008,1KG_AFR_AF,COL2A1
288271,12:48384822:A>T,NM_001844.4:c.1024-1234T>A,\N,\N,16/53,Benign,\N,intron_variant,3.315,0.0061,1KG_SAS_AF,COL2A1
288272,12:48384845:G>A,NM_001844.4:c.1024-1257C>T,\N,\N,16/53,Benign,\N,intron_variant,10.23,0.1176,1KG_SAS_AF,COL2A1
288273,12:48384916:C>T,NM_001844.4:c.1024-1328G>A,\N,\N,16/53,Benign,\N,intron_variant,17.2,0.0832,1KG_AFR_AF,COL2A1
288274,12:48384918:G>A,NM_001844.4:c.1024-1330C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,17.36,0.001,1KG_EAS_AF|1KG_SAS_AF,COL2A1
288275,12:48384937:G>A,NM_001844.4:c.1024-1349C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,2.412,0.0008,1KG_AFR_AF,COL2A1
288276,12:48384944:A>T,NM_001844.4:c.1024-1356T>A,\N,\N,16/53,Benign,\N,intron_variant,2.106,0.8489,1KG_EUR_AF,COL2A1
288277,12:48384948:C>T,NM_001844.4:c.1024-1360G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,3.085,0.001,1KG_EAS_AF,COL2A1
288278,12:48384956:A>T,NM_001844.4:c.1024-1368T>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.339,\N,\N,COL2A1
288279,12:48384986:G>A,NM_001844.4:c.1024-1398C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.914,0.001,1KG_EUR_AF,COL2A1
288280,12:48385065:C>G,NM_001844.4:c.1024-1477G>C,\N,\N,16/53,Unknown significance,\N,intron_variant,13.97,\N,\N,COL2A1
288281,12:48385074:C>G,NM_001844.4:c.1024-1486G>C,\N,\N,16/53,Unknown significance,\N,intron_variant,15.82,0.0008,1KG_AFR_AF,COL2A1
288282,12:48385081:C>A,NM_001844.4:c.1024-1493G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,15.33,\N,\N,COL2A1
288283,12:48385101:T>C,NM_001844.4:c.1024-1513A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,9.048,0.0008,1KG_AFR_AF,COL2A1
288284,12:48385129:C>T,NM_001844.4:c.1023+1532G>A,\N,\N,16/53,Benign,\N,intron_variant,6.837,0.0109,1KG_EUR_AF,COL2A1
288285,12:48385131:G>A,NM_001844.4:c.1023+1530C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,3.968,0.0008,1KG_AFR_AF,COL2A1
288286,12:48385137:A>T,NM_001844.4:c.1023+1524T>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.581,\N,\N,COL2A1
288287,12:48385153:C>T,NM_001844.4:c.1023+1508G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,4.286,0.0008,1KG_AFR_AF,COL2A1
288288,12:48385175:A>T,NM_001844.4:c.1023+1486T>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.052,\N,\N,COL2A1
288289,12:48385216:T>G,NM_001844.4:c.1023+1445A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,5.873,\N,\N,COL2A1
288290,12:48385240:G>GCA,NM_001844.4:c.1023+1419_1023+1420dup,\N,\N,16/53,Unknown significance,\N,intron_variant,4.274,0.003,1KG_AFR_AF,COL2A1
288291,12:48385248:C>T,NM_001844.4:c.1023+1413G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,2.564,0.002,1KG_SAS_AF,COL2A1
288292,12:48385249:C>T,NM_001844.4:c.1023+1412G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,3.183,\N,\N,COL2A1
288293,12:48385260:T>G,NM_001844.4:c.1023+1401A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,3.088,0.001,1KG_EUR_AF,COL2A1
288294,12:48385326:GTCTGAT>G,NM_001844.4:c.1023+1329_1023+1334del,\N,\N,16/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288295,12:48385335:G>C,NM_001844.4:c.1023+1326C>G,\N,\N,16/53,Unknown significance,\N,intron_variant,2.269,\N,\N,COL2A1
288296,12:48385336:A>G,NM_001844.4:c.1023+1325T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,5.289,0.001,1KG_EUR_AF,COL2A1
288297,12:48385338:G>A,NM_001844.4:c.1023+1323C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,5.671,0.002,1KG_SAS_AF,COL2A1
288298,12:48385349:G>T,NM_001844.4:c.1023+1312C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,7.257,0.0008,1KG_AFR_AF,COL2A1
288299,12:48385362:G>T,NM_001844.4:c.1023+1299C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,10.18,\N,\N,COL2A1
288300,12:48385367:C>T,NM_001844.4:c.1023+1294G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,10.23,\N,\N,COL2A1
288301,12:48385377:G>A,NM_001844.4:c.1023+1284C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,6.449,0.0008,1KG_AFR_AF,COL2A1
288302,12:48385407:A>G,NM_001844.4:c.1023+1254T>C,\N,\N,16/53,Benign,\N,intron_variant,4.164,0.0143,1KG_SAS_AF,COL2A1
288303,12:48385412:G>A,NM_001844.4:c.1023+1249C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,5.581,0.0014,1KG_AMR_AF,COL2A1
288304,12:48385418:C>T,NM_001844.4:c.1023+1243G>A,\N,\N,16/53,Benign,\N,intron_variant,6.105,0.0051,1KG_SAS_AF,COL2A1
288305,12:48385427:G>A,NM_001844.4:c.1023+1234C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,0.807,0.001,1KG_SAS_AF,COL2A1
288306,12:48385483:G>A,NM_001844.4:c.1023+1178C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.829,0.001,1KG_SAS_AF,COL2A1
288307,12:48385490:C>A,NM_001844.4:c.1023+1171G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,3.228,\N,\N,COL2A1
288308,12:48385496:C>G,NM_001844.4:c.1023+1165G>C,\N,\N,16/53,Unknown significance,\N,intron_variant,3.726,0.0015,1KG_AFR_AF,COL2A1
288309,12:48385498:G>A,NM_001844.4:c.1023+1163C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.652,\N,\N,COL2A1
288310,12:48385513:C>CT,NM_001844.4:c.1023+1147dup,\N,\N,16/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288311,12:48385517:A>G,NM_001844.4:c.1023+1144T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,3.72,\N,\N,COL2A1
288312,12:48385519:C>T,NM_001844.4:c.1023+1142G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,4.53,0.0008,1KG_AFR_AF,COL2A1
288313,12:48385548:G>A,NM_001844.4:c.1023+1113C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,1.907,0.002,1KG_EAS_AF,COL2A1
288314,12:48385570:G>A,NM_001844.4:c.1023+1091C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,14.77,0.003,1KG_AFR_AF,COL2A1
288315,12:48385575:C>T,NM_001844.4:c.1023+1086G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,13.36,0.002,1KG_EAS_AF,COL2A1
288316,12:48385576:A>G,NM_001844.4:c.1023+1085T>C,\N,\N,16/53,Benign,\N,intron_variant,11.82,0.8519,1KG_EUR_AF,COL2A1
288317,12:48385580:T>G,NM_001844.4:c.1023+1081A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,15.83,0.001,1KG_EAS_AF,COL2A1
288318,12:48385622:GCTCTCTAATCCC>G,NM_001844.4:c.1023+1027_1023+1038del,\N,\N,16/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288319,12:48385686:A>AG,NM_001844.4:c.1023+974dup,\N,\N,16/53,Benign,\N,intron_variant,1.319,0.1145,1KG_SAS_AF,COL2A1
288320,12:48385688:G>C,NM_001844.4:c.1023+973C>G,\N,\N,16/53,Unknown significance,\N,intron_variant,2.156,\N,\N,COL2A1
288321,12:48385689:G>A,NM_001844.4:c.1023+972C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,6.033,\N,\N,COL2A1
288322,12:48385689:G>T,NM_001844.4:c.1023+972C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,4.164,0.002,1KG_SAS_AF,COL2A1
288323,12:48385695:G>A,NM_001844.4:c.1023+966C>T,\N,\N,16/53,Benign,\N,intron_variant,1.62,0.0726,1KG_EUR_AF,COL2A1
288324,12:48385794:T>C,NM_001844.4:c.1023+867A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,6.231,\N,\N,COL2A1
288325,12:48385820:G>A,NM_001844.4:c.1023+841C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,19.95,\N,\N,COL2A1
288326,12:48385871:A>G,NM_001844.4:c.1023+790T>C,\N,\N,16/53,Benign,\N,intron_variant,7.125,0.0666,1KG_AFR_AF,COL2A1
288327,12:48385895:T>A,NM_001844.4:c.1023+766A>T,\N,\N,16/53,Unknown significance,\N,intron_variant,16.61,0.001,1KG_EAS_AF,COL2A1
288328,12:48385905:C>T,NM_001844.4:c.1023+756G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,14.08,0.0015,1KG_AFR_AF,COL2A1
288329,12:48385906:G>A,NM_001844.4:c.1023+755C>T,\N,\N,16/53,Benign,\N,intron_variant,16.09,0.0113,1KG_AFR_AF,COL2A1
288330,12:48385945:A>G,NM_001844.4:c.1023+716T>C,\N,\N,16/53,Benign,\N,intron_variant,2.675,0.8509,1KG_EUR_AF,COL2A1
288331,12:48385957:A>G,NM_001844.4:c.1023+704T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,10.67,\N,\N,COL2A1
288332,12:48385958:C>T,NM_001844.4:c.1023+703G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,9.658,\N,\N,COL2A1
288333,12:48385959:G>A,NM_001844.4:c.1023+702C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,11.23,\N,\N,COL2A1
288334,12:48385961:CTCTG>C,NM_001844.4:c.1023+696_1023+699del,\N,\N,16/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288335,12:48385973:C>T,NM_001844.4:c.1023+688G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,11.72,0.001,1KG_EAS_AF,COL2A1
288336,12:48385995:C>T,NM_001844.4:c.1023+666G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,4.704,0.002,1KG_EUR_AF,COL2A1
288337,12:48386048:G>C,NM_001844.4:c.1023+613C>G,\N,\N,16/53,Unknown significance,\N,intron_variant,1.161,\N,\N,COL2A1
288338,12:48386048:G>T,NM_001844.4:c.1023+613C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,2.044,\N,\N,COL2A1
288339,12:48386060:T>C,NM_001844.4:c.1023+601A>G,\N,\N,16/53,Benign,\N,intron_variant,2.95,0.5764,1KG_AFR_AF,COL2A1
288340,12:48386071:A>C,NM_001844.4:c.1023+590T>G,\N,\N,16/53,Unknown significance,\N,intron_variant,1.135,\N,\N,COL2A1
288341,12:48386094:C>T,NM_001844.4:c.1023+567G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.058,0.001,1KG_EUR_AF,COL2A1
288342,12:48386095:G>A,NM_001844.4:c.1023+566C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,0.308,0.001,1KG_EAS_AF,COL2A1
288343,12:48386103:C>T,NM_001844.4:c.1023+558G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,2.672,0.002,1KG_EUR_AF,COL2A1
288344,12:48386105:T>G,NM_001844.4:c.1023+556A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,2.142,0.001,1KG_SAS_AF,COL2A1
288345,12:48386108:G>A,NM_001844.4:c.1023+553C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,1.161,\N,\N,COL2A1
288346,12:48386118:G>C,NM_001844.4:c.1023+543C>G,\N,\N,16/53,Unknown significance,\N,intron_variant,2.437,0.0008,1KG_AFR_AF,COL2A1
288347,12:48386138:T>C,NM_001844.4:c.1023+523A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,0.508,\N,\N,COL2A1
288348,12:48386241:A>G,NM_001844.4:c.1023+420T>C,\N,\N,16/53,Benign,\N,intron_variant,1.793,0.8509,1KG_EUR_AF,COL2A1
288349,12:48386256:A>G,NM_001844.4:c.1023+405T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,0.591,0.001,1KG_SAS_AF,COL2A1
288350,12:48386263:C>A,NM_001844.4:c.1023+398G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.193,\N,\N,COL2A1
288351,12:48386331:G>A,NM_001844.4:c.1023+330C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.276,0.001,1KG_SAS_AF,COL2A1
288352,12:48386332:C>A,NM_001844.4:c.1023+329G>T,\N,\N,16/53,Benign,\N,intron_variant,4.093,0.0151,1KG_AFR_AF,COL2A1
288353,12:48386352:C>T,NM_001844.4:c.1023+309G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,0.534,\N,\N,COL2A1
288354,12:48386367:A>G,NM_001844.4:c.1023+294T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,2.789,\N,\N,COL2A1
288355,12:48386374:G>T,NM_001844.4:c.1023+287C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.155,\N,\N,COL2A1
288356,12:48386389:G>C,NM_001844.4:c.1023+272C>G,\N,\N,16/53,Unknown significance,\N,intron_variant,0.307,0.0014,1KG_AMR_AF,COL2A1
288357,12:48386400:G>A,NM_001844.4:c.1023+261C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.293,\N,\N,COL2A1
288358,12:48386400:G>T,NM_001844.4:c.1023+261C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.966,\N,\N,COL2A1
288359,12:48386405:T>C,NM_001844.4:c.1023+256A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,1.199,\N,\N,COL2A1
288360,12:48386412:G>A,NM_001844.4:c.1023+249C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.689,\N,\N,COL2A1
288361,12:48386456:C>G,NM_001844.4:c.1023+205G>C,\N,\N,16/53,Benign,\N,intron_variant,3.228,0.0129,1KG_AFR_AF,COL2A1
288362,12:48386458:A>G,NM_001844.4:c.1023+203T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,3.109,0.0014,1KG_AMR_AF,COL2A1
288363,12:48386461:G>A,NM_001844.4:c.1023+200C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,1.232,\N,\N,COL2A1
288364,12:48386470:A>G,NM_001844.4:c.1023+191T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,3.988,0.003,1KG_AFR_AF,COL2A1
288365,12:48386471:TTCCTA>T,NM_001844.4:c.1023+185_1023+189del,\N,\N,16/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288366,12:48386478:C>T,NM_001844.4:c.1023+183G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,3.493,0.0008,1KG_AFR_AF,COL2A1
288367,12:48386507:C>T,NM_001844.4:c.1023+154G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,4.503,0.002,1KG_SAS_AF,COL2A1
288368,12:48386526:A>G,NM_001844.4:c.1023+135T>C,\N,\N,16/53,Unknown significance,\N,intron_variant,3.243,\N,\N,COL2A1
288369,12:48386529:C>A,NM_001844.4:c.1023+132G>T,\N,\N,16/53,Unknown significance,\N,intron_variant,3.339,0.002,1KG_EAS_AF,COL2A1
288370,12:48386529:C>T,NM_001844.4:c.1023+132G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,3.13,\N,\N,COL2A1
288371,12:48386537:G>A,NM_001844.4:c.1023+124C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,2.285,0.001,1KG_EAS_AF,COL2A1
288372,12:48386553:A>G,NM_001844.4:c.1023+108T>C,\N,\N,16/53,Benign,\N,intron_variant,3.527,0.8509,1KG_EUR_AF,COL2A1
288373,12:48386568:C>T,NM_001844.4:c.1023+93G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,4.377,0.002,1KG_EUR_AF,COL2A1
288374,12:48386577:G>T,NM_001844.4:c.1023+84C>A,\N,\N,16/53,Benign,\N,intron_variant,1.274,0.8509,1KG_EUR_AF,COL2A1
288375,12:48386584:C>T,NM_001844.4:c.1023+77G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.449,0.0008,1KG_AFR_AF,COL2A1
288376,12:48386593:A>T,NM_001844.4:c.1023+68T>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.609,\N,\N,COL2A1
288377,12:48386606:T>C,NM_001844.4:c.1023+55A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,1.349,0.0008,1KG_AFR_AF,COL2A1
288378,12:48386623:T>C,NM_001844.4:c.1023+38A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,3.463,0.00111111,EXAC_OTH_AF,COL2A1
288379,12:48386624:C>T,NM_001844.4:c.1023+37G>A,\N,\N,16/53,Unknown significance,\N,intron_variant,0.979,0.0015,1KG_AFR_AF,COL2A1
288380,12:48386625:G>A,NM_001844.4:c.1023+36C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,2.721,0.000165294,EXAC_NFE_AF,COL2A1
288381,12:48386625:G>T,NM_001844.4:c.1023+36C>A,\N,\N,16/53,Unknown significance,\N,intron_variant,1.104,0.0000300535,EXAC_NFE_AF,COL2A1
288382,12:48386631:T>C,NM_001844.4:c.1023+30A>G,\N,\N,16/53,Benign,\N,intron_variant,1.721,0.00674114,EXAC_AFR_AF,COL2A1
288383,12:48386636:G>A,NM_001844.4:c.1023+25C>T,\N,\N,16/53,Unknown significance,\N,intron_variant,4.357,0.001,1KG_SAS_AF,COL2A1
288384,12:48386637:T>C,NM_001844.4:c.1023+24A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,2.623,0.0000150222,EXAC_NFE_AF,COL2A1
288385,12:48386646:T>C,NM_001844.4:c.1023+15A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,11.82,0.0000867303,EXAC_AMR_AF,COL2A1
288386,12:48386646:T>G,NM_001844.4:c.1023+15A>C,\N,\N,16/53,Unknown significance,\N,intron_variant,12.43,0.0000963206,EXAC_AFR_AF,COL2A1
288387,12:48386649:T>C,NM_001844.4:c.1023+12A>G,\N,\N,16/53,Unknown significance,\N,intron_variant,9.972,\N,\N,COL2A1
288388,12:48386652:A>T,NM_001844.4:c.1023+9T>A,\N,\N,16/53,Unknown significance,\N,intron_variant,6.907,0.000115741,EXAC_EAS_AF,COL2A1
288389,12:48386654:TACTC>T,NM_001844.4:c.1023+3_1023+6del,\N,\N,16/53,Pathogenic,Kniest dysplasia,splice_region_variant&intron_variant,22.3,\N,\N,COL2A1
288390,12:48386658:C>T,NM_001844.4:c.1023+3G>A,\N,\N,16/53,Unknown significance,\N,splice_region_variant&intron_variant,16.93,0.000482067,EXAC_AFR_AF,COL2A1
288391,12:48386659:A>C,NM_001844.4:c.1023+2T>G,\N,\N,16/53,Pathogenic,Kniest dysplasia,splice_donor_variant,24.9,\N,\N,COL2A1
288392,12:48386660:C>A,NM_001844.4:c.1023+1G>T,\N,\N,16/53,Pathogenic,Kniest dysplasia,splice_donor_variant,27.6,\N,\N,COL2A1
288393,12:48386661:C>T,NM_001844.4:c.1023G>A,NP_001835.3:p.Ala341=,16/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,18.68,0.0000150272,EXAC_NFE_AF,COL2A1
288394,12:48386662:G>A,NM_001844.4:c.1022C>T,NP_001835.3:p.Ala341Val,16/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.7,0.001,1KG_EAS_AF,COL2A1
288395,12:48386666:C>T,NM_001844.4:c.1018G>A,NP_001835.3:p.Ala340Thr,16/54,\N,Unknown significance,\N,missense_variant,24.3,0.0000150213,EXAC_NFE_AF,COL2A1
288396,12:48386667:G>A,NM_001844.4:c.1017C>T,NP_001835.3:p.Gly339=,16/54,\N,Unknown significance,\N,synonymous_variant,14.26,0.000115687,EXAC_EAS_AF,COL2A1
288397,12:48386672:C>G,NM_001844.4:c.1012G>C,NP_001835.3:p.Ala338Pro,16/54,\N,Likely benign,\N,missense_variant,15.32,0.0000607607,EXAC_SAS_AF,COL2A1
288398,12:48386673:A>G,NM_001844.4:c.1011T>C,NP_001835.3:p.Pro337=,16/54,\N,Unknown significance,\N,synonymous_variant,9.904,0.0000867905,EXAC_AMR_AF,COL2A1
288399,12:48386675:G>A,NM_001844.4:c.1009C>T,NP_001835.3:p.Pro337Ser,16/54,\N,Unknown significance,\N,missense_variant,22.5,0.0000867905,EXAC_AMR_AF,COL2A1
288400,12:48386679:A>T,NM_001844.4:c.1005T>A,NP_001835.3:p.Thr335=,16/54,\N,Unknown significance,\N,synonymous_variant,3.589,0.000303951,EXAC_SAS_AF,COL2A1
288401,12:48386680:G>C,NM_001844.4:c.1004C>G,NP_001835.3:p.Thr335Ser,16/54,\N,Unknown significance,\N,missense_variant,19.29,0.000547112,EXAC_SAS_AF,COL2A1
288402,12:48386683:C>T,NM_001844.4:c.1001G>A,NP_001835.3:p.Arg334Gln,16/54,\N,Unknown significance,\N,missense_variant,29,0.000346981,EXAC_EAS_AF,COL2A1
288403,12:48386684:G>A,NM_001844.4:c.1000C>T,NP_001835.3:p.Arg334Trp,16/54,\N,Unknown significance,\N,missense_variant,29.4,0.000116279,EVS_EA_AF,COL2A1
288404,12:48386686:C>T,NM_001844.4:c.998G>A,NP_001835.3:p.Gly333Glu,16/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.7,\N,\N,COL2A1
288405,12:48386686:CCT>C,NM_001844.4:c.996_997del,NP_001835.3:p.Gly333ThrfsTer43,16/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
288406,12:48386692:T>C,NM_001844.4:c.992A>G,NP_001835.3:p.Glu331Gly,16/54,\N,Unknown significance,\N,missense_variant,24.7,0.0000963948,EXAC_AFR_AF,COL2A1
288407,12:48386694:A>G,NM_001844.4:c.990T>C,NP_001835.3:p.Gly330=,16/54,\N,Unknown significance,\N,synonymous_variant,8.434,0.0000451331,EXAC_NFE_AF,COL2A1
288408,12:48386702:G>A,NM_001844.4:c.982C>T,NP_001835.3:p.Leu328=,16/54,\N,Unknown significance,\N,synonymous_variant,11.4,0.000120478,EXAC_NFE_AF,COL2A1
288409,12:48386703:G>A,NM_001844.4:c.981C>T,NP_001835.3:p.Gly327=,16/54,\N,Unknown significance,\N,synonymous_variant,13.27,0.0000609682,EXAC_SAS_AF,COL2A1
288410,12:48386704:C>T,NM_001844.4:c.980G>A,NP_001835.3:p.Gly327Asp,16/54,\N,Pathogenic,Kniest dysplasia,missense_variant,25.7,\N,\N,COL2A1
288411,12:48386713:C>G,NM_001844.4:c.971G>C,NP_001835.3:p.Gly324Ala,16/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.7,0.0000150898,EXAC_NFE_AF,COL2A1
288412,12:48386721:C>T,NM_001844.4:c.970-7G>A,\N,\N,15/53,Unknown significance,\N,splice_region_variant&intron_variant,12.49,0.002,1KG_EAS_AF,COL2A1
288413,12:48386725:C>T,NM_001844.4:c.970-11G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,10.02,\N,\N,COL2A1
288414,12:48386743:A>G,NM_001844.4:c.970-29T>C,\N,\N,15/53,Unknown significance,\N,intron_variant,3.769,0.0000152402,EXAC_NFE_AF,COL2A1
288415,12:48386748:T>C,NM_001844.4:c.970-34A>G,\N,\N,15/53,Unknown significance,\N,intron_variant,2.218,0.000232558,EVS_EA_AF,COL2A1
288416,12:48386757:C>T,NM_001844.4:c.970-43G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,1.669,0.000116279,EVS_EA_AF,COL2A1
288417,12:48386758:G>A,NM_001844.4:c.970-44C>T,\N,\N,15/53,Unknown significance,\N,intron_variant,1.051,0.002,1KG_SAS_AF,COL2A1
288418,12:48386767:G>A,NM_001844.4:c.970-53C>T,\N,\N,15/53,Unknown significance,\N,intron_variant,3.036,0.001,1KG_EUR_AF,COL2A1
288419,12:48386771:A>C,NM_001844.4:c.970-57T>G,\N,\N,15/53,Unknown significance,\N,intron_variant,2.341,\N,\N,COL2A1
288420,12:48386774:A>C,NM_001844.4:c.970-60T>G,\N,\N,15/53,Unknown significance,\N,intron_variant,1.922,0.002,1KG_EAS_AF,COL2A1
288421,12:48386781:C>T,NM_001844.4:c.970-67G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,5.425,\N,\N,COL2A1
288422,12:48386797:G>A,NM_001844.4:c.970-83C>T,\N,\N,15/53,Unknown significance,\N,intron_variant,1.105,0.001,1KG_EAS_AF,COL2A1
288423,12:48386862:C>G,NM_001844.4:c.970-148G>C,\N,\N,15/53,Unknown significance,\N,intron_variant,2.232,\N,\N,COL2A1
288424,12:48386881:C>T,NM_001844.4:c.970-167G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,4.445,\N,\N,COL2A1
288425,12:48386899:G>GT,NM_001844.4:c.970-186dup,\N,\N,15/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288426,12:48386913:C>T,NM_001844.4:c.970-199G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,2.851,0.001,1KG_EAS_AF,COL2A1
288427,12:48386914:G>A,NM_001844.4:c.970-200C>T,\N,\N,15/53,Unknown significance,\N,intron_variant,1.072,\N,\N,COL2A1
288428,12:48386918:C>T,NM_001844.4:c.970-204G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,4.394,0.0008,1KG_AFR_AF,COL2A1
288429,12:48386919:A>G,NM_001844.4:c.970-205T>C,\N,\N,15/53,Benign,\N,intron_variant,2.172,0.2609,1KG_EAS_AF,COL2A1
288430,12:48386919:AC>CG,NM_001844.4:c.970-206_970-205delinsCG,\N,\N,15/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288431,12:48386923:G>A,NM_001844.4:c.970-209C>T,\N,\N,15/53,Unknown significance,\N,intron_variant,0.48,\N,\N,COL2A1
288432,12:48386987:T>A,NM_001844.4:c.969+254A>T,\N,\N,15/53,Benign,\N,intron_variant,4.172,0.0092,1KG_SAS_AF,COL2A1
288433,12:48386996:C>T,NM_001844.4:c.969+245G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,4.575,\N,\N,COL2A1
288434,12:48387025:T>A,NM_001844.4:c.969+216A>T,\N,\N,15/53,Benign,\N,intron_variant,3.623,0.8509,1KG_EUR_AF,COL2A1
288435,12:48387025:T>TA,NM_001844.4:c.969+215dup,\N,\N,15/53,Unknown significance,\N,intron_variant,0.813,\N,\N,COL2A1
288436,12:48387034:G>A,NM_001844.4:c.969+207C>T,\N,\N,15/53,Unknown significance,\N,intron_variant,3.253,\N,\N,COL2A1
288437,12:48387041:T>C,NM_001844.4:c.969+200A>G,\N,\N,15/53,Unknown significance,\N,intron_variant,0.614,0.0008,1KG_AFR_AF,COL2A1
288438,12:48387052:A>C,NM_001844.4:c.969+189T>G,\N,\N,15/53,Benign,\N,intron_variant,0.856,0.8509,1KG_EUR_AF,COL2A1
288439,12:48387057:G>C,NM_001844.4:c.969+184C>G,\N,\N,15/53,Benign,\N,intron_variant,0.199,0.559,1KG_AFR_AF,COL2A1
288440,12:48387065:A>G,NM_001844.4:c.969+176T>C,\N,\N,15/53,Unknown significance,\N,intron_variant,3.098,0.0008,1KG_AFR_AF,COL2A1
288441,12:48387086:G>A,NM_001844.4:c.969+155C>T,\N,\N,15/53,Unknown significance,\N,intron_variant,12.2,\N,\N,COL2A1
288442,12:48387105:T>C,NM_001844.4:c.969+136A>G,\N,\N,15/53,Unknown significance,\N,intron_variant,12.57,0.001,1KG_SAS_AF,COL2A1
288443,12:48387107:C>T,NM_001844.4:c.969+134G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,12.86,\N,\N,COL2A1
288444,12:48387110:T>G,NM_001844.4:c.969+131A>C,\N,\N,15/53,Unknown significance,\N,intron_variant,13.22,0.001,1KG_EUR_AF,COL2A1
288445,12:48387125:C>T,NM_001844.4:c.969+116G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,2.142,0.001,1KG_EUR_AF,COL2A1
288446,12:48387176:C>T,NM_001844.4:c.969+65G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,4.597,0.00289017,EVS_AA_AF,COL2A1
288447,12:48387206:T>G,NM_001844.4:c.969+35A>C,\N,\N,15/53,Unknown significance,\N,intron_variant,1.539,0.0000149988,EXAC_NFE_AF,COL2A1
288448,12:48387207:T>G,NM_001844.4:c.969+34A>C,\N,\N,15/53,Unknown significance,\N,intron_variant,2.673,0.0000149984,EXAC_NFE_AF,COL2A1
288449,12:48387208:T>G,NM_001844.4:c.969+33A>C,\N,\N,15/53,Unknown significance,\N,intron_variant,4.651,0.000115554,EXAC_EAS_AF,COL2A1
288450,12:48387211:T>A,NM_001844.4:c.969+30A>T,\N,\N,15/53,Unknown significance,\N,intron_variant,4.752,\N,\N,COL2A1
288451,12:48387215:C>G,NM_001844.4:c.969+26G>C,\N,\N,15/53,Unknown significance,\N,intron_variant,6.342,0.0000149979,EXAC_NFE_AF,COL2A1
288452,12:48387215:C>T,NM_001844.4:c.969+26G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,6.793,0.0000606502,EXAC_SAS_AF,COL2A1
288453,12:48387217:T>C,NM_001844.4:c.969+24A>G,\N,\N,15/53,Unknown significance,\N,intron_variant,6.241,0.000226963,EVS_AA_AF,COL2A1
288454,12:48387227:G>T,NM_001844.4:c.969+14C>A,\N,\N,15/53,Unknown significance,\N,intron_variant,0.486,0.000462214,EXAC_EAS_AF,COL2A1
288455,12:48387228:T>C,NM_001844.4:c.969+13A>G,\N,\N,15/53,Unknown significance,\N,intron_variant,3.023,0.000119936,EXAC_NFE_AF,COL2A1
288456,12:48387231:C>T,NM_001844.4:c.969+10G>A,\N,\N,15/53,Unknown significance,\N,intron_variant,10.23,0.0000606355,EXAC_SAS_AF,COL2A1
288457,12:48387233:A>C,NM_001844.4:c.969+8T>G,\N,\N,15/53,Unknown significance,\N,splice_region_variant&intron_variant,9.788,0.0000961908,EXAC_AFR_AF,COL2A1
288458,12:48387235:A>G,NM_001844.4:c.969+6T>C,\N,\N,15/53,Unknown significance,\N,splice_region_variant&intron_variant,14.62,0.0024966,EVS_AA_AF,COL2A1
288459,12:48387243:T>C,NM_001844.4:c.967A>G,NP_001835.3:p.Met323Val,15/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,14.25,0.0000606134,EXAC_SAS_AF,COL2A1
288460,12:48387246:G>A,NM_001844.4:c.964C>T,NP_001835.3:p.Pro322Ser,15/54,\N,Unknown significance,\N,missense_variant,22.7,0.000302389,EXAC_FIN_AF,COL2A1
288461,12:48387250:C>T,NM_001844.4:c.960G>A,NP_001835.3:p.Pro320=,15/54,\N,Unknown significance,\N,synonymous_variant,17.04,0.000453926,EVS_AA_AF,COL2A1
288462,12:48387251:G>A,NM_001844.4:c.959C>T,NP_001835.3:p.Pro320Leu,15/54,\N,Unknown significance,\N,missense_variant,26.6,0.001,1KG_EAS_AF|1KG_SAS_AF,COL2A1
288463,12:48387258:C>T,NM_001844.4:c.952G>A,NP_001835.3:p.Gly318Arg,15/54,\N,Pathogenic,Rhegmatogenous retinal detachment,missense_variant,28.2,\N,\N,COL2A1
288464,12:48387259:G>A,NM_001844.4:c.951C>T,NP_001835.3:p.Asn317=,15/54,\N,Unknown significance,\N,synonymous_variant,11.71,0.000060584,EXAC_SAS_AF,COL2A1
288465,12:48387264:C>T,NM_001844.4:c.946G>A,NP_001835.3:p.Glu316Lys,15/54,\N,Unknown significance,\N,missense_variant,24,0.0000149871,EXAC_NFE_AF,COL2A1
288466,12:48387266:C>A,NM_001844.4:c.944G>T,NP_001835.3:p.Gly315Val,15/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,26.4,\N,\N,COL2A1
288467,12:48387268:C>T,NM_001844.4:c.942G>A,NP_001835.3:p.Pro314=,15/54,\N,Unknown significance,\N,synonymous_variant,16.5,0.000060584,EXAC_SAS_AF,COL2A1
288468,12:48387269:G>A,NM_001844.4:c.941C>T,NP_001835.3:p.Pro314Leu,15/54,\N,Unknown significance,\N,missense_variant,26.2,0.0000599502,EXAC_NFE_AF,COL2A1
288469,12:48387270:G>A,NM_001844.4:c.940C>T,NP_001835.3:p.Pro314Ser,15/54,\N,Unknown significance,\N,missense_variant,19.48,0.0000605987,EXAC_SAS_AF,COL2A1
288470,12:48387271:G>T,NM_001844.4:c.939C>A,NP_001835.3:p.Ser313=,15/54,\N,Unknown significance,\N,synonymous_variant,10.82,0.000115554,EXAC_EAS_AF,COL2A1
288471,12:48387275:CCACT>C,NM_001844.4:c.931_934del,NP_001835.3:p.Ser311ValfsTer317,15/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
288472,12:48387276:CA>C,NM_001844.4:c.933del,NP_001835.3:p.Ser311ArgfsTer318,15/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,31,\N,\N,COL2A1
288473,12:48387282:C>G,NM_001844.4:c.928G>C,NP_001835.3:p.Glu310Gln,15/54,\N,Unknown significance,\N,missense_variant,23,0.0000961908,EXAC_AFR_AF,COL2A1
288474,12:48387286:C>T,NM_001844.4:c.925-1G>A,\N,\N,14/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,26.5,\N,\N,COL2A1
288475,12:48387294:A>G,NM_001844.4:c.925-9T>C,\N,\N,14/53,Unknown significance,\N,intron_variant,2.42,0.0000149871,EXAC_NFE_AF,COL2A1
288476,12:48387299:G>A,NM_001844.4:c.925-14C>T,\N,\N,14/53,Unknown significance,\N,intron_variant,1.194,0.000014988,EXAC_NFE_AF,COL2A1
288477,12:48387303:A>G,NM_001844.4:c.925-18T>C,\N,\N,14/53,Unknown significance,\N,intron_variant,2.183,0.000029976,EXAC_NFE_AF,COL2A1
288478,12:48387304:A>G,NM_001844.4:c.925-19T>C,\N,\N,14/53,Unknown significance,\N,intron_variant,1.555,0.000384837,EXAC_AFR_AF,COL2A1
288479,12:48387305:G>C,NM_001844.4:c.925-20C>G,\N,\N,14/53,Unknown significance,\N,intron_variant,0.816,0.000014988,EXAC_NFE_AF,COL2A1
288480,12:48387306:G>A,NM_001844.4:c.925-21C>T,\N,\N,14/53,Unknown significance,\N,intron_variant,7.784,0.000115554,EXAC_EAS_AF,COL2A1
288481,12:48387321:C>A,NM_001844.4:c.925-36G>T,\N,\N,14/53,Unknown significance,\N,intron_variant,6.765,0.00015124,EXAC_FIN_AF,COL2A1
288482,12:48387321:C>T,NM_001844.4:c.925-36G>A,\N,\N,14/53,Unknown significance,\N,intron_variant,5.748,0.0000149925,EXAC_NFE_AF,COL2A1
288483,12:48387329:T>C,NM_001844.4:c.925-44A>G,\N,\N,14/53,Unknown significance,\N,intron_variant,2.511,0.000192493,EXAC_AFR_AF,COL2A1
288484,12:48387332:C>T,NM_001844.4:c.925-47G>A,\N,\N,14/53,Unknown significance,\N,intron_variant,4.33,0.0008,1KG_AFR_AF,COL2A1
288485,12:48387333:C>T,NM_001844.4:c.925-48G>A,\N,\N,14/53,Unknown significance,\N,intron_variant,5.378,0.001,1KG_SAS_AF,COL2A1
288486,12:48387334:G>A,NM_001844.4:c.925-49C>T,\N,\N,14/53,Unknown significance,\N,intron_variant,2.995,0.00019279,EXAC_AFR_AF,COL2A1
288487,12:48387334:G>T,NM_001844.4:c.925-49C>A,\N,\N,14/53,Benign,\N,intron_variant,1.411,0.0152065,EVS_AA_AF,COL2A1
288488,12:48387335:C>T,NM_001844.4:c.925-50G>A,\N,\N,14/53,Unknown significance,\N,intron_variant,8.061,0.0000150011,EXAC_NFE_AF,COL2A1
288489,12:48387357:G>A,NM_001844.4:c.925-72C>T,\N,\N,14/53,Unknown significance,\N,intron_variant,2.114,0.000314268,EVS_EA_AF,COL2A1
288490,12:48387451:C>T,NM_001844.4:c.924+141G>A,\N,\N,14/53,Unknown significance,\N,intron_variant,3.143,0.001,1KG_EAS_AF,COL2A1
288491,12:48387459:A>G,NM_001844.4:c.924+133T>C,\N,\N,14/53,Unknown significance,\N,intron_variant,2.708,\N,\N,COL2A1
288492,12:48387462:G>A,NM_001844.4:c.924+130C>T,\N,\N,14/53,Unknown significance,\N,intron_variant,2.391,\N,\N,COL2A1
288493,12:48387479:A>C,NM_001844.4:c.924+113T>G,\N,\N,14/53,Unknown significance,\N,intron_variant,0.153,0.0008,1KG_AFR_AF,COL2A1
288494,12:48387537:G>A,NM_001844.4:c.924+55C>T,\N,\N,14/53,Unknown significance,\N,intron_variant,0.848,\N,\N,COL2A1
288495,12:48387559:C>G,NM_001844.4:c.924+33G>C,\N,\N,14/53,Unknown significance,\N,intron_variant,2.415,0.00365596,EXAC_AFR_AF,COL2A1
288496,12:48387563:C>T,NM_001844.4:c.924+29G>A,\N,\N,14/53,Unknown significance,\N,intron_variant,2.17,0.000226963,EVS_AA_AF,COL2A1
288497,12:48387564:C>T,NM_001844.4:c.924+28G>A,\N,\N,14/53,Unknown significance,\N,intron_variant,3.578,0.0000149993,EXAC_NFE_AF,COL2A1
288498,12:48387565:A>C,NM_001844.4:c.924+27T>G,\N,\N,14/53,Unknown significance,\N,intron_variant,0.517,0.0000149993,EXAC_NFE_AF,COL2A1
288499,12:48387566:T>A,NM_001844.4:c.924+26A>T,\N,\N,14/53,Unknown significance,\N,intron_variant,1.924,0.0000299976,EXAC_NFE_AF,COL2A1
288500,12:48387571:T>C,NM_001844.4:c.924+21A>G,\N,\N,14/53,Unknown significance,\N,intron_variant,0.743,0.000116279,EVS_EA_AF,COL2A1
288501,12:48387572:TG>T,NM_001844.4:c.924+19del,\N,\N,14/53,Unknown significance,\N,intron_variant,3.992,0.00011558,EXAC_EAS_AF,COL2A1
288502,12:48387587:C>T,NM_001844.4:c.924+5G>A,\N,\N,14/53,Unknown significance,\N,splice_region_variant&intron_variant,10.55,0.0000149907,EXAC_NFE_AF,COL2A1
288503,12:48387594:T>C,NM_001844.4:c.922A>G,NP_001835.3:p.Lys308Glu,14/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,26,\N,\N,COL2A1
288504,12:48387605:G>C,NM_001844.4:c.911C>G,NP_001835.3:p.Ala304Gly,14/54,\N,Unknown significance,\N,missense_variant,21.8,\N,\N,COL2A1
288505,12:48387607:A>C,NM_001844.4:c.909T>G,NP_001835.3:p.Gly303=,14/54,\N,Unknown significance,\N,synonymous_variant,0.932,\N,\N,COL2A1
288506,12:48387608:C>T,NM_001844.4:c.908G>A,NP_001835.3:p.Gly303Asp,14/54,\N,Pathogenic,Kniest dysplasia,missense_variant,25.4,\N,\N,COL2A1
288507,12:48387609:CCG>C,NM_001844.4:c.905_906del,NP_001835.3:p.Ala302GlyfsTer8,14/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
288508,12:48387610:C>T,NM_001844.4:c.906G>A,NP_001835.3:p.Ala302=,14/54,\N,Unknown significance,\N,synonymous_variant,19.29,0.000115554,EXAC_EAS_AF,COL2A1
288509,12:48387611:G>A,NM_001844.4:c.905C>T,NP_001835.3:p.Ala302Val,14/54,\N,Pathogenic,Kniest dysplasia,missense_variant,23.3,\N,\N,COL2A1
288510,12:48387614:T>G,NM_001844.4:c.902A>C,NP_001835.3:p.Glu301Ala,14/54,\N,Unknown significance,\N,missense_variant,23,0.0000149862,EXAC_NFE_AF,COL2A1
288511,12:48387616:T>C,NM_001844.4:c.900A>G,NP_001835.3:p.Gly300=,14/54,\N,Unknown significance,\N,synonymous_variant,3.895,\N,\N,COL2A1
288512,12:48387617:CCCTT>C,NM_001844.4:c.895_898del,NP_001835.3:p.Lys299GlufsTer8,14/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
288513,12:48387628:G>A,NM_001844.4:c.888C>T,NP_001835.3:p.Asp296=,14/54,\N,Unknown significance,\N,synonymous_variant,9.377,0.0000960984,EXAC_AFR_AF,COL2A1
288514,12:48387632:A>C,NM_001844.4:c.884T>G,NP_001835.3:p.Leu295Arg,14/54,\N,Unknown significance,\N,missense_variant,22,0.001,1KG_EUR_AF,COL2A1
288515,12:48387632:AG>A,NM_001844.4:c.883del,NP_001835.3:p.Leu295TrpfsTer13,14/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,33,\N,\N,COL2A1
288516,12:48387638:G>C,NM_001844.4:c.878C>G,NP_001835.3:p.Pro293Arg,14/54,\N,Unknown significance,\N,missense_variant,18.05,0.000151194,EXAC_FIN_AF,COL2A1
288517,12:48387649:G>C,NM_001844.4:c.871-4C>G,\N,\N,13/53,Unknown significance,\N,splice_region_variant&intron_variant,0.116,0.0015022,EXAC_EAS_AF,COL2A1
288518,12:48387650:G>A,NM_001844.4:c.871-5C>T,\N,\N,13/53,Unknown significance,\N,splice_region_variant&intron_variant,4.44,0.000116279,EVS_EA_AF,COL2A1
288519,12:48387654:C>G,NM_001844.4:c.871-9G>C,\N,\N,13/53,Unknown significance,\N,intron_variant,0.954,0.000014984,EXAC_NFE_AF,COL2A1
288520,12:48387663:A>G,NM_001844.4:c.871-18T>C,\N,\N,13/53,Unknown significance,\N,intron_variant,3.699,0.000192197,EXAC_AFR_AF,COL2A1
288521,12:48387665:G>A,NM_001844.4:c.871-20C>T,\N,\N,13/53,Unknown significance,\N,intron_variant,1.75,0.000115554,EXAC_EAS_AF,COL2A1
288522,12:48387679:C>T,NM_001844.4:c.871-34G>A,\N,\N,13/53,Unknown significance,\N,intron_variant,8.098,0.0000149835,EXAC_NFE_AF,COL2A1
288523,12:48387683:G>A,NM_001844.4:c.871-38C>T,\N,\N,13/53,Unknown significance,\N,intron_variant,7.462,0.000226963,EVS_AA_AF,COL2A1
288524,12:48387684:A>G,NM_001844.4:c.871-39T>C,\N,\N,13/53,Unknown significance,\N,intron_variant,7.109,0.000453926,EVS_AA_AF,COL2A1
288525,12:48387691:A>G,NM_001844.4:c.871-46T>C,\N,\N,13/53,Benign,\N,intron_variant,4.104,0.0136,1KG_AFR_AF,COL2A1
288526,12:48387696:G>A,NM_001844.4:c.871-51C>T,\N,\N,13/53,Unknown significance,\N,intron_variant,4.406,0.000060562,EXAC_SAS_AF,COL2A1
288527,12:48387708:G>A,NM_001844.4:c.871-63C>T,\N,\N,13/53,Unknown significance,\N,intron_variant,2.711,\N,\N,COL2A1
288528,12:48387714:C>G,NM_001844.4:c.870+63G>C,\N,\N,13/53,Unknown significance,\N,intron_variant,3.363,0.0008,1KG_AFR_AF,COL2A1
288529,12:48387727:T>C,NM_001844.4:c.870+50A>G,\N,\N,13/53,Unknown significance,\N,intron_variant,4.287,0.00110619,EXAC_OTH_AF,COL2A1
288530,12:48387731:C>A,NM_001844.4:c.870+46G>T,\N,\N,13/53,Unknown significance,\N,intron_variant,5.529,0.0000864155,EXAC_AMR_AF,COL2A1
288531,12:48387755:C>A,NM_001844.4:c.870+22G>T,\N,\N,13/53,Unknown significance,\N,intron_variant,5.786,0.00476623,EVS_AA_AF,COL2A1
288532,12:48387755:C>T,NM_001844.4:c.870+22G>A,\N,\N,13/53,Unknown significance,\N,intron_variant,4.35,0.0000150065,EXAC_NFE_AF,COL2A1
288533,12:48387756:C>T,NM_001844.4:c.870+21G>A,\N,\N,13/53,Unknown significance,\N,intron_variant,1.523,\N,\N,COL2A1
288534,12:48387762:A>G,NM_001844.4:c.870+15T>C,\N,\N,13/53,Unknown significance,\N,intron_variant,0.622,0.0000300282,EXAC_NFE_AF,COL2A1
288535,12:48387764:C>A,NM_001844.4:c.870+13G>T,\N,\N,13/53,Unknown significance,\N,intron_variant,3.269,\N,\N,COL2A1
288536,12:48387765:C>T,NM_001844.4:c.870+12G>A,\N,\N,13/53,Unknown significance,\N,intron_variant,2.07,0.000116279,EVS_EA_AF,COL2A1
288537,12:48387766:G>A,NM_001844.4:c.870+11C>T,\N,\N,13/53,Unknown significance,\N,intron_variant,0.373,0.003,1KG_AFR_AF,COL2A1
288538,12:48387772:C>T,NM_001844.4:c.870+5G>A,\N,\N,13/53,Pathogenic,Stickler syndrome,splice_region_variant&intron_variant,20.7,\N,\N,COL2A1
288539,12:48387772:C>A,NM_001844.4:c.870+5G>T,\N,\N,13/53,Pathogenic,Stickler syndrome,splice_region_variant&intron_variant,21.4,\N,\N,COL2A1
288540,12:48387776:C>T,NM_001844.4:c.870+1G>A,\N,\N,13/53,Pathogenic,Stickler syndrome,splice_donor_variant,27.7,\N,\N,COL2A1
288541,12:48387785:C>T,NM_001844.4:c.862G>A,NP_001835.3:p.Gly288Ser,13/54,\N,Unknown significance,\N,missense_variant,26.7,\N,\N,COL2A1
288542,12:48387792:A>G,NM_001844.4:c.855T>C,NP_001835.3:p.Gly285=,13/54,\N,Unknown significance,\N,synonymous_variant,3.91,0.001,1KG_EAS_AF,COL2A1
288543,12:48387801:G>A,NM_001844.4:c.846C>T,NP_001835.3:p.Gly282=,13/54,\N,Unknown significance,\N,synonymous_variant,14.73,0.000115929,EXAC_EAS_AF,COL2A1
288544,12:48387802:C>T,NM_001844.4:c.845G>A,NP_001835.3:p.Gly282Asp,13/54,\N,Pathogenic,Stickler syndrome,missense_variant,25.6,\N,\N,COL2A1
288545,12:48387805:G>A,NM_001844.4:c.842C>T,NP_001835.3:p.Pro281Leu,13/54,\N,Unknown significance,\N,missense_variant,25.4,0.0000150711,EXAC_NFE_AF,COL2A1
288546,12:48387806:G>T,NM_001844.4:c.841C>A,NP_001835.3:p.Pro281Thr,13/54,\N,Unknown significance,\N,missense_variant,23.9,0.000115955,EXAC_EAS_AF,COL2A1
288547,12:48387807:G>C,NM_001844.4:c.840C>G,NP_001835.3:p.Thr280=,13/54,\N,Unknown significance,\N,synonymous_variant,9.667,\N,\N,COL2A1
288548,12:48387823:C>T,NM_001844.4:c.824G>A,NP_001835.3:p.Arg275His,13/54,\N,Unknown significance,\N,missense_variant,29.3,0.0000867905,EXAC_AMR_AF,COL2A1
288549,12:48387824:G>A,NM_001844.4:c.823C>T,NP_001835.3:p.Arg275Cys,13/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,27.4,\N,\N,COL2A1
288550,12:48387831:C>G,NM_001844.4:c.817-1G>C,\N,\N,12/53,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,splice_acceptor_variant,26.7,\N,\N,COL2A1
288551,12:48387839:C>T,NM_001844.4:c.817-9G>A,\N,\N,12/53,Likely pathogenic,Stickler syndrome,intron_variant,17.54,\N,\N,COL2A1
288552,12:48387841:A>T,NM_001844.4:c.817-11T>A,\N,\N,12/53,Unknown significance,\N,intron_variant,15.49,0.0000868056,EXAC_AMR_AF,COL2A1
288553,12:48387851:G>A,NM_001844.4:c.817-21C>T,\N,\N,12/53,Unknown significance,\N,intron_variant,6.095,0.0000607829,EXAC_SAS_AF,COL2A1
288554,12:48387855:AG>A,NM_001844.4:c.817-26del,\N,\N,12/53,Unknown significance,\N,intron_variant,5.129,0.0000993838,EXAC_AFR_AF,COL2A1
288555,12:48387859:C>A,NM_001844.4:c.817-29G>T,\N,\N,12/53,Unknown significance,\N,intron_variant,6.619,0.0000151934,EXAC_NFE_AF,COL2A1
288556,12:48387867:A>T,NM_001844.4:c.817-37T>A,\N,\N,12/53,Unknown significance,\N,intron_variant,0.901,\N,\N,COL2A1
288557,12:48387871:T>G,NM_001844.4:c.817-41A>C,\N,\N,12/53,Unknown significance,\N,intron_variant,2.342,0.000116252,EXAC_EAS_AF,COL2A1
288558,12:48387880:A>G,NM_001844.4:c.817-50T>C,\N,\N,12/53,Unknown significance,\N,intron_variant,1.379,0.000015242,EXAC_NFE_AF,COL2A1
288559,12:48387922:C>T,NM_001844.4:c.817-92G>A,\N,\N,12/53,Unknown significance,\N,intron_variant,5.953,\N,\N,COL2A1
288560,12:48387926:C>G,NM_001844.4:c.817-96G>C,\N,\N,12/53,Unknown significance,\N,intron_variant,8.112,\N,\N,COL2A1
288561,12:48387939:C>T,NM_001844.4:c.817-109G>A,\N,\N,12/53,Unknown significance,\N,intron_variant,0.291,0.001,1KG_SAS_AF,COL2A1
288562,12:48387949:C>A,NM_001844.4:c.817-119G>T,\N,\N,12/53,Unknown significance,\N,intron_variant,6.14,0.001,1KG_EUR_AF,COL2A1
288563,12:48387950:A>T,NM_001844.4:c.817-120T>A,\N,\N,12/53,Unknown significance,\N,intron_variant,7.15,0.002,1KG_EUR_AF,COL2A1
288564,12:48387951:C>G,NM_001844.4:c.817-121G>C,\N,\N,12/53,Unknown significance,\N,intron_variant,8.264,0.002,1KG_EUR_AF,COL2A1
288565,12:48387959:G>T,NM_001844.4:c.817-129C>A,\N,\N,12/53,Benign,\N,intron_variant,4.872,0.0076,1KG_AFR_AF,COL2A1
288566,12:48387991:C>T,NM_001844.4:c.817-161G>A,\N,\N,12/53,Unknown significance,\N,intron_variant,1.687,0.001,1KG_SAS_AF,COL2A1
288567,12:48387992:G>A,NM_001844.4:c.817-162C>T,\N,\N,12/53,Unknown significance,\N,intron_variant,0.575,0.0014,1KG_AMR_AF,COL2A1
288568,12:48388052:C>G,NM_001844.4:c.816+155G>C,\N,\N,12/53,Unknown significance,\N,intron_variant,2.024,0.0008,1KG_AFR_AF,COL2A1
288569,12:48388053:C>T,NM_001844.4:c.816+154G>A,\N,\N,12/53,Unknown significance,\N,intron_variant,4.473,\N,\N,COL2A1
288570,12:48388060:G>A,NM_001844.4:c.816+147C>T,\N,\N,12/53,Unknown significance,\N,intron_variant,2.63,\N,\N,COL2A1
288571,12:48388078:G>A,NM_001844.4:c.816+129C>T,\N,\N,12/53,Unknown significance,\N,intron_variant,0.34,\N,\N,COL2A1
288572,12:48388099:G>A,NM_001844.4:c.816+108C>T,\N,\N,12/53,Unknown significance,\N,intron_variant,2.743,\N,\N,COL2A1
288573,12:48388102:G>A,NM_001844.4:c.816+105C>T,\N,\N,12/53,Benign,\N,intron_variant,2.871,0.1467,1KG_AFR_AF,COL2A1
288574,12:48388143:G>T,NM_001844.4:c.816+64C>A,\N,\N,12/53,Unknown significance,\N,intron_variant,1.96,0.0014,1KG_AMR_AF,COL2A1
288575,12:48388150:G>A,NM_001844.4:c.816+57C>T,\N,\N,12/53,Benign,\N,intron_variant,7.566,0.0605,1KG_AFR_AF,COL2A1
288576,12:48388160:G>A,NM_001844.4:c.816+47C>T,\N,\N,12/53,Unknown significance,\N,intron_variant,2.837,0.0000624532,EXAC_SAS_AF,COL2A1
288577,12:48388162:G>A,NM_001844.4:c.816+45C>T,\N,\N,12/53,Unknown significance,\N,intron_variant,3.401,0.000116279,EVS_EA_AF,COL2A1
288578,12:48388163:A>G,NM_001844.4:c.816+44T>C,\N,\N,12/53,Unknown significance,\N,intron_variant,3.123,0.0000153988,EXAC_NFE_AF,COL2A1
288579,12:48388166:C>T,NM_001844.4:c.816+41G>A,\N,\N,12/53,Unknown significance,\N,intron_variant,2.952,0.0000625078,EXAC_SAS_AF,COL2A1
288580,12:48388167:G>C,NM_001844.4:c.816+40C>G,\N,\N,12/53,Unknown significance,\N,intron_variant,0.148,0.0000154003,EXAC_NFE_AF,COL2A1
288581,12:48388167:G>T,NM_001844.4:c.816+40C>A,\N,\N,12/53,Unknown significance,\N,intron_variant,0.29,0.0000624532,EXAC_SAS_AF,COL2A1
288582,12:48388168:C>A,NM_001844.4:c.816+39G>T,\N,\N,12/53,Unknown significance,\N,intron_variant,4.806,0.0043,1KG_AMR_AF,COL2A1
288583,12:48388170:A>G,NM_001844.4:c.816+37T>C,\N,\N,12/53,Unknown significance,\N,intron_variant,2.24,0.0000307248,EXAC_NFE_AF,COL2A1
288584,12:48388180:C>G,NM_001844.4:c.816+27G>C,\N,\N,12/53,Unknown significance,\N,intron_variant,1.75,0.000226963,EVS_AA_AF,COL2A1
288585,12:48388181:C>A,NM_001844.4:c.816+26G>T,\N,\N,12/53,Unknown significance,\N,intron_variant,1.472,0.0000153092,EXAC_NFE_AF,COL2A1
288586,12:48388184:A>C,NM_001844.4:c.816+23T>G,\N,\N,12/53,Unknown significance,\N,intron_variant,2.939,0.000116279,EVS_EA_AF,COL2A1
288587,12:48388186:G>T,NM_001844.4:c.816+21C>A,\N,\N,12/53,Unknown significance,\N,intron_variant,2.564,0.0000621427,EXAC_SAS_AF,COL2A1
288588,12:48388194:C>T,NM_001844.4:c.816+13G>A,\N,\N,12/53,Unknown significance,\N,intron_variant,6.075,0.001,1KG_EUR_AF,COL2A1
288589,12:48388200:C>T,NM_001844.4:c.816+7G>A,\N,\N,12/53,Unknown significance,\N,splice_region_variant&intron_variant,11.03,0.000196348,EXAC_AFR_AF,COL2A1
288590,12:48388201:G>A,NM_001844.4:c.816+6C>T,\N,\N,12/53,Unknown significance,\N,splice_region_variant&intron_variant,7.688,0.00113122,EXAC_OTH_AF,COL2A1
288591,12:48388203:T>G,NM_001844.4:c.816+4A>C,\N,\N,12/53,Unknown significance,\N,splice_region_variant&intron_variant,13.67,0.0000151763,EXAC_NFE_AF,COL2A1
288592,12:48388211:G>A,NM_001844.4:c.812C>T,NP_001835.3:p.Pro271Leu,12/54,\N,Unknown significance,\N,missense_variant,24.4,0.0000151455,EXAC_NFE_AF,COL2A1
288593,12:48388215:C>G,NM_001844.4:c.808G>C,NP_001835.3:p.Gly270Arg,12/54,\N,Pathogenic,Stickler syndrome,missense_variant,24.7,\N,\N,COL2A1
288594,12:48388219:C>T,NM_001844.4:c.804G>A,NP_001835.3:p.Pro268=,12/54,\N,Unknown significance,\N,synonymous_variant,15.78,0.0000873668,EXAC_AMR_AF,COL2A1
288595,12:48388220:G>A,NM_001844.4:c.803C>T,NP_001835.3:p.Pro268Leu,12/54,\N,Likely benign,\N,missense_variant,15.4,0.002,1KG_SAS_AF,COL2A1
288596,12:48388222:A>G,NM_001844.4:c.801T>C,NP_001835.3:p.Gly267=,12/54,\N,Unknown significance,\N,synonymous_variant,7.375,0.0000151226,EXAC_NFE_AF,COL2A1
288597,12:48388223:C>T,NM_001844.4:c.800G>A,NP_001835.3:p.Gly267Asp,12/54,\N,Pathogenic,Stickler syndrome,missense_variant,25.2,\N,\N,COL2A1
288598,12:48388225:C>T,NM_001844.4:c.798G>A,NP_001835.3:p.Arg266=,12/54,\N,Unknown significance,\N,synonymous_variant,15.17,0.000120963,EXAC_NFE_AF,COL2A1
288599,12:48388228:T>C,NM_001844.4:c.795A>G,NP_001835.3:p.Glu265=,12/54,\N,Unknown significance,\N,synonymous_variant,3.384,0.0000617436,EXAC_SAS_AF,COL2A1
288600,12:48388229:TC>T,NM_001844.4:c.793del,NP_001835.3:p.Glu265LysfsTer43,12/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,34,\N,\N,COL2A1
288601,12:48388238:T>C,NM_001844.4:c.785A>G,NP_001835.3:p.Lys262Arg,12/54,\N,Unknown significance,\N,missense_variant,12.04,0.000174795,EXAC_AMR_AF,COL2A1
288602,12:48388262:T>C,NM_001844.4:c.763-2A>G,\N,\N,11/53,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,splice_acceptor_variant,24.3,\N,\N,COL2A1
288603,12:48388264:A>G,NM_001844.4:c.763-4T>C,\N,\N,11/53,Unknown significance,\N,splice_region_variant&intron_variant,1.943,0.0000152226,EXAC_NFE_AF,COL2A1
288604,12:48388267:G>T,NM_001844.4:c.763-7C>A,\N,\N,11/53,Unknown significance,\N,splice_region_variant&intron_variant,2.898,\N,\N,COL2A1
288605,12:48388267:GGA>G,NM_001844.4:c.763-9_763-8del,\N,\N,11/53,Unknown significance,\N,splice_region_variant&intron_variant,1.591,\N,\N,COL2A1
288606,12:48388270:G>A,NM_001844.4:c.763-10C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,4.816,0.000170126,EXAC_FIN_AF,COL2A1
288607,12:48388278:G>T,NM_001844.4:c.763-18C>A,\N,\N,11/53,Unknown significance,\N,intron_variant,0.547,0.0000626409,EXAC_SAS_AF,COL2A1
288608,12:48388280:T>G,NM_001844.4:c.763-20A>C,\N,\N,11/53,Unknown significance,\N,intron_variant,0.071,0.001,1KG_SAS_AF,COL2A1
288609,12:48388282:T>A,NM_001844.4:c.763-22A>T,\N,\N,11/53,Unknown significance,\N,intron_variant,2.077,0.000116279,EVS_EA_AF,COL2A1
288610,12:48388283:C>T,NM_001844.4:c.763-23G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,2.339,0.000355534,EXAC_EAS_AF,COL2A1
288611,12:48388285:C>A,NM_001844.4:c.763-25G>T,\N,\N,11/53,Unknown significance,\N,intron_variant,5.021,0.0008,1KG_AFR_AF,COL2A1
288612,12:48388292:C>T,NM_001844.4:c.763-32G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,4.225,0.0000309953,EXAC_NFE_AF,COL2A1
288613,12:48388300:C>T,NM_001844.4:c.763-40G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,3.197,0.000203583,EXAC_AFR_AF,COL2A1
288614,12:48388301:G>A,NM_001844.4:c.763-41C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,0.525,0.000102229,EXAC_AFR_AF,COL2A1
288615,12:48388302:C>T,NM_001844.4:c.763-42G>A,\N,\N,11/53,Benign,\N,intron_variant,1.933,0.00806452,EXAC_OTH_AF,COL2A1
288616,12:48388304:G>A,NM_001844.4:c.763-44C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,0.79,0.000116279,EVS_EA_AF,COL2A1
288617,12:48388342:C>A,NM_001844.4:c.763-82G>T,\N,\N,11/53,Unknown significance,\N,intron_variant,3.174,\N,\N,COL2A1
288618,12:48388343:C>A,NM_001844.4:c.763-83G>T,\N,\N,11/53,Unknown significance,\N,intron_variant,3.769,\N,\N,COL2A1
288619,12:48388402:C>T,NM_001844.4:c.763-142G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,1.829,0.002,1KG_EAS_AF,COL2A1
288620,12:48388404:T>G,NM_001844.4:c.763-144A>C,\N,\N,11/53,Unknown significance,\N,intron_variant,2.337,0.001,1KG_SAS_AF,COL2A1
288621,12:48388470:C>T,NM_001844.4:c.763-210G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,16.29,0.003,1KG_AFR_AF,COL2A1
288622,12:48388482:C>T,NM_001844.4:c.763-222G>A,\N,\N,11/53,Benign,\N,intron_variant,13.17,0.123,1KG_EAS_AF,COL2A1
288623,12:48388492:A>G,NM_001844.4:c.763-232T>C,\N,\N,11/53,Benign,\N,intron_variant,2.158,0.0139,1KG_EAS_AF,COL2A1
288624,12:48388495:T>TC,NM_001844.4:c.763-236dup,\N,\N,11/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288625,12:48388565:A>G,NM_001844.4:c.763-305T>C,\N,\N,11/53,Unknown significance,\N,intron_variant,1.197,\N,\N,COL2A1
288626,12:48388584:A>G,NM_001844.4:c.763-324T>C,\N,\N,11/53,Unknown significance,\N,intron_variant,5.258,0.001,1KG_SAS_AF,COL2A1
288627,12:48388602:A>G,NM_001844.4:c.763-342T>C,\N,\N,11/53,Unknown significance,\N,intron_variant,3.267,\N,\N,COL2A1
288628,12:48388612:T>C,NM_001844.4:c.763-352A>G,\N,\N,11/53,Benign,\N,intron_variant,3.636,0.6779,1KG_EUR_AF,COL2A1
288629,12:48388621:C>A,NM_001844.4:c.763-361G>T,\N,\N,11/53,Unknown significance,\N,intron_variant,16.49,0.001,1KG_SAS_AF,COL2A1
288630,12:48388629:C>T,NM_001844.4:c.763-369G>A,\N,\N,11/53,Benign,\N,intron_variant,17.33,0.1166,1KG_SAS_AF,COL2A1
288631,12:48388630:G>T,NM_001844.4:c.763-370C>A,\N,\N,11/53,Benign,\N,intron_variant,15.55,0.0182,1KG_AFR_AF,COL2A1
288632,12:48388647:A>G,NM_001844.4:c.763-387T>C,\N,\N,11/53,Unknown significance,\N,intron_variant,21.3,0.003,1KG_EUR_AF,COL2A1
288633,12:48388712:C>T,NM_001844.4:c.762+326G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,3.277,0.001,1KG_EAS_AF,COL2A1
288634,12:48388731:C>T,NM_001844.4:c.762+307G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,7.592,0.001,1KG_EAS_AF,COL2A1
288635,12:48388741:A>G,NM_001844.4:c.762+297T>C,\N,\N,11/53,Unknown significance,\N,intron_variant,9.126,0.0008,1KG_AFR_AF,COL2A1
288636,12:48388743:C>T,NM_001844.4:c.762+295G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,8.958,\N,\N,COL2A1
288637,12:48388749:G>A,NM_001844.4:c.762+289C>T,\N,\N,11/53,Benign,\N,intron_variant,7.251,0.0098,1KG_AFR_AF,COL2A1
288638,12:48388755:T>C,NM_001844.4:c.762+283A>G,\N,\N,11/53,Unknown significance,\N,intron_variant,7.314,\N,\N,COL2A1
288639,12:48388793:T>G,NM_001844.4:c.762+245A>C,\N,\N,11/53,Unknown significance,\N,intron_variant,19.3,\N,\N,COL2A1
288640,12:48388830:C>T,NM_001844.4:c.762+208G>A,\N,\N,11/53,Benign,\N,intron_variant,10.18,0.6769,1KG_EUR_AF,COL2A1
288641,12:48388843:C>T,NM_001844.4:c.762+195G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,9.123,0.003,1KG_AFR_AF,COL2A1
288642,12:48388844:G>A,NM_001844.4:c.762+194C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,7.548,\N,\N,COL2A1
288643,12:48388845:G>T,NM_001844.4:c.762+193C>A,\N,\N,11/53,Benign,\N,intron_variant,8.213,0.0058,1KG_AMR_AF,COL2A1
288644,12:48388854:G>A,NM_001844.4:c.762+184C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,17.59,0.0008,1KG_AFR_AF,COL2A1
288645,12:48388856:A>C,NM_001844.4:c.762+182T>G,\N,\N,11/53,Benign,\N,intron_variant,15.42,0.6769,1KG_EUR_AF,COL2A1
288646,12:48388878:GC>G,NM_001844.4:c.762+159del,\N,\N,11/53,Benign,\N,intron_variant,2.061,0.0053,1KG_AFR_AF,COL2A1
288647,12:48388898:C>T,NM_001844.4:c.762+140G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,2.345,\N,\N,COL2A1
288648,12:48388980:C>T,NM_001844.4:c.762+58G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,5.509,\N,\N,COL2A1
288649,12:48388991:C>T,NM_001844.4:c.762+47G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,10.07,0.001,1KG_SAS_AF,COL2A1
288650,12:48388995:T>TC,NM_001844.4:c.762+42dup,\N,\N,11/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288651,12:48388995:TC>T,NM_001844.4:c.762+42del,\N,\N,11/53,Benign,\N,intron_variant,8.062,0.326037,EXAC_EAS_AF,COL2A1
288652,12:48388996:C>T,NM_001844.4:c.762+42G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,8.708,\N,\N,COL2A1
288653,12:48389004:G>A,NM_001844.4:c.762+34C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,3.92,0.0000449964,EXAC_NFE_AF,COL2A1
288654,12:48389007:G>A,NM_001844.4:c.762+31C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,3.1,0.0000149979,EXAC_NFE_AF,COL2A1
288655,12:48389008:C>A,NM_001844.4:c.762+30G>T,\N,\N,11/53,Unknown significance,\N,intron_variant,4.601,0.000226963,EVS_AA_AF,COL2A1
288656,12:48389010:C>T,NM_001844.4:c.762+28G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,3.447,0.000226963,EVS_AA_AF,COL2A1
288657,12:48389014:A>G,NM_001844.4:c.762+24T>C,\N,\N,11/53,Unknown significance,\N,intron_variant,0.932,0.000288351,EXAC_AFR_AF,COL2A1
288658,12:48389016:T>C,NM_001844.4:c.762+22A>G,\N,\N,11/53,Unknown significance,\N,intron_variant,2.479,0.000060562,EXAC_SAS_AF,COL2A1
288659,12:48389017:T>G,NM_001844.4:c.762+21A>C,\N,\N,11/53,Unknown significance,\N,intron_variant,4.04,0.0000863856,EXAC_AMR_AF,COL2A1
288660,12:48389018:G>T,NM_001844.4:c.762+20C>A,\N,\N,11/53,Unknown significance,\N,intron_variant,0.859,0.00220264,EXAC_OTH_AF,COL2A1
288661,12:48389020:C>T,NM_001844.4:c.762+18G>A,\N,\N,11/53,Unknown significance,\N,intron_variant,3.395,0.000115554,EXAC_EAS_AF,COL2A1
288662,12:48389023:C>T,NM_001844.4:c.762+15G>A,\N,\N,11/53,Benign,\N,intron_variant,3.426,0.377593,EXAC_NFE_AF,COL2A1
288663,12:48389025:C>T,NM_001844.4:c.762+13G>A,\N,\N,11/53,Benign,\N,intron_variant,2.746,0.0061,1KG_AFR_AF,COL2A1
288664,12:48389026:G>A,NM_001844.4:c.762+12C>T,\N,\N,11/53,Unknown significance,\N,intron_variant,1.442,0.0000149867,EXAC_NFE_AF,COL2A1
288665,12:48389035:C>G,NM_001844.4:c.762+3G>C,\N,\N,11/53,Pathogenic,Stickler syndrome,splice_region_variant&intron_variant,14.37,\N,\N,COL2A1
288666,12:48389037:C>T,NM_001844.4:c.762+1G>A,\N,\N,11/53,Pathogenic,Stickler syndrome type 1,splice_donor_variant,27.5,\N,\N,COL2A1
288667,12:48389038:A>T,NM_001844.4:c.762T>A,NP_001835.3:p.Asp254Glu,11/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.1,0.0000149858,EXAC_NFE_AF,COL2A1
288668,12:48389043:C>CA,NM_001844.4:c.756dup,NP_001835.3:p.Asp253Ter,11/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,34,\N,\N,COL2A1
288669,12:48389051:T>A,NM_001844.4:c.749A>T,NP_001835.3:p.Lys250Met,11/54,\N,Unknown significance,\N,missense_variant,25,0.0000961169,EXAC_AFR_AF,COL2A1
288670,12:48389055:CA>C,NM_001844.4:c.744del,NP_001835.3:p.Gly249GlufsTer59,11/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,33,\N,\N,COL2A1
288671,12:48389057:G>C,NM_001844.4:c.743C>G,NP_001835.3:p.Pro248Arg,11/54,\N,Unknown significance,\N,missense_variant,23.9,0.000115554,EXAC_EAS_AF,COL2A1
288672,12:48389061:G>A,NM_001844.4:c.739C>T,NP_001835.3:p.Pro247Ser,11/54,\N,Unknown significance,\N,missense_variant,21.7,0.000116279,EVS_EA_AF,COL2A1
288673,12:48389065:A>T,NM_001844.4:c.735T>A,NP_001835.3:p.Pro245=,11/54,\N,Unknown significance,\N,synonymous_variant,2.555,\N,\N,COL2A1
288674,12:48389075:CG>C,NM_001844.4:c.724del,NP_001835.3:p.Arg242ValfsTer66,11/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
288675,12:48389081:C>T,NM_001844.4:c.719G>A,NP_001835.3:p.Gly240Asp,11/54,\N,Pathogenic,Stickler syndrome,missense_variant,25.8,\N,\N,COL2A1
288676,12:48389082:C>A,NM_001844.4:c.718G>T,NP_001835.3:p.Gly240Cys,11/54,\N,Pathogenic,Spondyloepiphyseal dysplasia,missense_variant,27.5,\N,\N,COL2A1
288677,12:48389086:G>A,NM_001844.4:c.714C>T,NP_001835.3:p.Pro238=,11/54,\N,Unknown significance,\N,synonymous_variant,10.18,0.0000299742,EXAC_NFE_AF,COL2A1
288678,12:48389088:G>C,NM_001844.4:c.712C>G,NP_001835.3:p.Pro238Ala,11/54,\N,Unknown significance,\N,missense_variant,17.81,0.000060562,EXAC_SAS_AF,COL2A1
288679,12:48389089:A>G,NM_001844.4:c.711T>C,NP_001835.3:p.Gly237=,11/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.97,0.000014988,EXAC_NFE_AF,COL2A1
288680,12:48389089:A>T,NM_001844.4:c.711T>A,NP_001835.3:p.Gly237=,11/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.06,0.0000961169,EXAC_AFR_AF,COL2A1
288681,12:48389092:C>G,NM_001844.4:c.709-1G>C,\N,\N,10/53,Pathogenic,Kniest dysplasia,splice_acceptor_variant,26.7,\N,\N,COL2A1
288682,12:48389093:T>C,NM_001844.4:c.709-2A>G,\N,\N,10/53,Pathogenic,Otospondylomegaepiphyseal dysplasia,splice_acceptor_variant,25.2,\N,\N,COL2A1
288683,12:48389094:AC>A,NM_001844.4:c.709-4del,\N,\N,10/53,Unknown significance,\N,splice_region_variant&intron_variant,10.23,0.0000149889,EXAC_NFE_AF,COL2A1
288684,12:48389099:C>A,NM_001844.4:c.709-8G>T,\N,\N,10/53,Unknown significance,\N,splice_region_variant&intron_variant,13.67,0.00365314,EXAC_AFR_AF,COL2A1
288685,12:48389100:A>G,NM_001844.4:c.709-9T>C,\N,\N,10/53,Unknown significance,\N,intron_variant,13.29,0.000453926,EVS_AA_AF,COL2A1
288686,12:48389104:G>A,NM_001844.4:c.709-13C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,10.37,0.000116279,EVS_EA_AF,COL2A1
288687,12:48389108:A>G,NM_001844.4:c.709-17T>C,\N,\N,10/53,Unknown significance,\N,intron_variant,8.582,0.000060562,EXAC_SAS_AF,COL2A1
288688,12:48389111:G>A,NM_001844.4:c.709-20C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,6.924,0.00357316,EXAC_SAS_AF,COL2A1
288689,12:48389112:T>TTCCC,NM_001844.4:c.709-22_709-21insGGGA,\N,\N,10/53,Unknown significance,\N,intron_variant,7.109,\N,\N,COL2A1
288690,12:48389115:A>C,NM_001844.4:c.709-24T>G,\N,\N,10/53,Benign,\N,intron_variant,8.174,0.0068,1KG_AFR_AF,COL2A1
288691,12:48389116:A>C,NM_001844.4:c.709-25T>G,\N,\N,10/53,Unknown significance,\N,intron_variant,10.9,\N,\N,COL2A1
288692,12:48389126:A>G,NM_001844.4:c.709-35T>C,\N,\N,10/53,Unknown significance,\N,intron_variant,1.775,0.000121124,EXAC_SAS_AF,COL2A1
288693,12:48389127:T>C,NM_001844.4:c.709-36A>G,\N,\N,10/53,Unknown significance,\N,intron_variant,2.88,0.000116279,EVS_EA_AF,COL2A1
288694,12:48389148:A>G,NM_001844.4:c.709-57T>C,\N,\N,10/53,Benign,\N,intron_variant,3.41,0.0092,1KG_SAS_AF,COL2A1
288695,12:48389159:T>C,NM_001844.4:c.709-68A>G,\N,\N,10/53,Benign,\N,intron_variant,2.193,0.005,1KG_EUR_AF,COL2A1
288696,12:48389167:T>A,NM_001844.4:c.709-76A>T,\N,\N,10/53,Unknown significance,\N,intron_variant,2.996,\N,\N,COL2A1
288697,12:48389192:A>G,NM_001844.4:c.709-101T>C,\N,\N,10/53,Unknown significance,\N,intron_variant,1.477,0.001,1KG_EUR_AF,COL2A1
288698,12:48389232:G>C,NM_001844.4:c.709-141C>G,\N,\N,10/53,Benign,\N,intron_variant,1.383,0.0726,1KG_EUR_AF,COL2A1
288699,12:48389237:T>C,NM_001844.4:c.709-146A>G,\N,\N,10/53,Unknown significance,\N,intron_variant,1.455,\N,\N,COL2A1
288700,12:48389245:C>T,NM_001844.4:c.709-154G>A,\N,\N,10/53,Benign,\N,intron_variant,0.661,0.2965,1KG_AFR_AF,COL2A1
288701,12:48389253:A>T,NM_001844.4:c.709-162T>A,\N,\N,10/53,Unknown significance,\N,intron_variant,0.714,0.001,1KG_EAS_AF,COL2A1
288702,12:48389324:GCTGT>G,NM_001844.4:c.708+165_708+168del,\N,\N,10/53,Unknown significance,\N,intron_variant,4.747,\N,\N,COL2A1
288703,12:48389333:C>G,NM_001844.4:c.708+160G>C,\N,\N,10/53,Benign,\N,intron_variant,5.126,0.17,1KG_EUR_AF,COL2A1
288704,12:48389337:G>C,NM_001844.4:c.708+156C>G,\N,\N,10/53,Unknown significance,\N,intron_variant,0.674,\N,\N,COL2A1
288705,12:48389356:G>A,NM_001844.4:c.708+137C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,7.223,0.0008,1KG_AFR_AF,COL2A1
288706,12:48389365:G>A,NM_001844.4:c.708+128C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,4.693,0.001,1KG_EUR_AF,COL2A1
288707,12:48389371:C>T,NM_001844.4:c.708+122G>A,\N,\N,10/53,Unknown significance,\N,intron_variant,6.185,0.001,1KG_SAS_AF,COL2A1
288708,12:48389388:G>C,NM_001844.4:c.708+105C>G,\N,\N,10/53,Unknown significance,\N,intron_variant,6.877,\N,\N,COL2A1
288709,12:48389408:G>A,NM_001844.4:c.708+85C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,18.12,\N,\N,COL2A1
288710,12:48389416:G>A,NM_001844.4:c.708+77C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,15.94,0.001,1KG_SAS_AF,COL2A1
288711,12:48389418:G>C,NM_001844.4:c.708+75C>G,\N,\N,10/53,Unknown significance,\N,intron_variant,14.99,0.0014,1KG_AMR_AF,COL2A1
288712,12:48389429:C>T,NM_001844.4:c.708+64G>A,\N,\N,10/53,Unknown significance,\N,intron_variant,2.75,0.000314268,EVS_EA_AF,COL2A1
288713,12:48389443:T>C,NM_001844.4:c.708+50A>G,\N,\N,10/53,Unknown significance,\N,intron_variant,4.822,0.0000864304,EXAC_AMR_AF,COL2A1
288714,12:48389457:C>G,NM_001844.4:c.708+36G>C,\N,\N,10/53,Unknown significance,\N,intron_variant,4.43,0.0000150177,EXAC_NFE_AF,COL2A1
288715,12:48389460:C>G,NM_001844.4:c.708+33G>C,\N,\N,10/53,Unknown significance,\N,intron_variant,4.007,0.000060562,EXAC_SAS_AF,COL2A1
288716,12:48389468:G>A,NM_001844.4:c.708+25C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,1.063,0.0000150164,EXAC_NFE_AF,COL2A1
288717,12:48389469:G>A,NM_001844.4:c.708+24C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,6.036,0.0000300327,EXAC_NFE_AF,COL2A1
288718,12:48389471:A>G,NM_001844.4:c.708+22T>C,\N,\N,10/53,Unknown significance,\N,intron_variant,2.743,0.000192641,EXAC_AFR_AF,COL2A1
288719,12:48389478:C>T,NM_001844.4:c.708+15G>A,\N,\N,10/53,Unknown significance,\N,intron_variant,1.698,0.000015029,EXAC_NFE_AF,COL2A1
288720,12:48389479:G>A,NM_001844.4:c.708+14C>T,\N,\N,10/53,Unknown significance,\N,intron_variant,0.072,0.0000605694,EXAC_SAS_AF,COL2A1
288721,12:48389485:G>A,NM_001844.4:c.708+8C>T,\N,\N,10/53,Benign,\N,splice_region_variant&intron_variant,7.58,0.022736,EXAC_AFR_AF,COL2A1
288722,12:48389490:C>T,NM_001844.4:c.708+3G>A,\N,\N,10/53,Unknown significance,\N,splice_region_variant&intron_variant,14.95,0.00017313,EXAC_AMR_AF,COL2A1
288723,12:48389497:ACACCAGGTT>A,NM_001844.4:c.695_703del,NP_001835.3:p.Glu232_Gly234del,10/54,\N,Unknown significance,\N,inframe_deletion,23.3,0.0000150299,EXAC_NFE_AF,COL2A1
288724,12:48389498:C>T,NM_001844.4:c.703G>A,NP_001835.3:p.Val235Ile,10/54,\N,Likely benign,\N,missense_variant,23.2,0.000117069,EXAC_EAS_AF,COL2A1
288725,12:48389499:A>G,NM_001844.4:c.702T>C,NP_001835.3:p.Gly234=,10/54,\N,Unknown significance,\N,synonymous_variant,2.172,0.000015058,EXAC_NFE_AF,COL2A1
288726,12:48389502:A>G,NM_001844.4:c.699T>C,NP_001835.3:p.Pro233=,10/54,\N,Unknown significance,\N,synonymous_variant,7.565,0.00110865,EXAC_OTH_AF,COL2A1
288727,12:48389536:C>A,NM_001844.4:c.665G>T,NP_001835.3:p.Gly222Val,10/54,\N,Pathogenic,Stickler syndrome,missense_variant,26.2,\N,\N,COL2A1
288728,12:48389538:T>C,NM_001844.4:c.663A>G,NP_001835.3:p.Gln221=,10/54,\N,Unknown significance,\N,synonymous_variant,2.22,0.0000150748,EXAC_NFE_AF,COL2A1
288729,12:48389539:T>G,NM_001844.4:c.662A>C,NP_001835.3:p.Gln221Pro,10/54,\N,Unknown significance,\N,missense_variant,21.6,0.000116279,EVS_EA_AF,COL2A1
288730,12:48389546:C>G,NM_001844.4:c.655G>C,NP_001835.3:p.Gly219Arg,10/54,\N,Pathogenic,Stickler syndrome,missense_variant&splice_region_variant,25.6,\N,\N,COL2A1
288731,12:48389547:C>G,NM_001844.4:c.655-1G>C,\N,\N,9/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,26.4,\N,\N,COL2A1
288732,12:48389563:G>A,NM_001844.4:c.655-17C>T,\N,\N,9/53,Unknown significance,\N,intron_variant,3.892,0.00158874,EVS_AA_AF,COL2A1
288733,12:48389564:G>T,NM_001844.4:c.655-18C>A,\N,\N,9/53,Unknown significance,\N,intron_variant,0.963,0.000116932,EXAC_EAS_AF,COL2A1
288734,12:48389571:G>A,NM_001844.4:c.655-25C>T,\N,\N,9/53,Unknown significance,\N,intron_variant,5.316,\N,\N,COL2A1
288735,12:48389571:G>T,NM_001844.4:c.655-25C>A,\N,\N,9/53,Unknown significance,\N,intron_variant,3.255,0.0000962279,EXAC_AFR_AF,COL2A1
288736,12:48389573:T>C,NM_001844.4:c.655-27A>G,\N,\N,9/53,Unknown significance,\N,intron_variant,4.031,0.0000150119,EXAC_NFE_AF,COL2A1
288737,12:48389578:C>T,NM_001844.4:c.655-32G>A,\N,\N,9/53,Unknown significance,\N,intron_variant,3.325,\N,\N,COL2A1
288738,12:48389581:T>C,NM_001844.4:c.655-35A>G,\N,\N,9/53,Unknown significance,\N,intron_variant,1.397,0.000089982,EXAC_NFE_AF,COL2A1
288739,12:48389594:A>C,NM_001844.4:c.655-48T>G,\N,\N,9/53,Unknown significance,\N,intron_variant,0.401,0.000116279,EVS_EA_AF,COL2A1
288740,12:48389595:ACAT>A,NM_001844.4:c.655-52_655-50del,\N,\N,9/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
288741,12:48389599:C>T,NM_001844.4:c.655-53G>A,\N,\N,9/53,Unknown significance,\N,intron_variant,4.714,\N,\N,COL2A1
288742,12:48389620:G>C,NM_001844.4:c.654+38C>G,\N,\N,9/53,Unknown significance,\N,intron_variant,0.842,\N,\N,COL2A1
288743,12:48389621:C>G,NM_001844.4:c.654+37G>C,\N,\N,9/53,Unknown significance,\N,intron_variant,0.054,\N,\N,COL2A1
288744,12:48389621:C>T,NM_001844.4:c.654+37G>A,\N,\N,9/53,Unknown significance,\N,intron_variant,0.107,0.00110375,EXAC_OTH_AF,COL2A1
288745,12:48389622:G>A,NM_001844.4:c.654+36C>T,\N,\N,9/53,Benign,\N,intron_variant,0.941,0.0092,1KG_SAS_AF,COL2A1
288746,12:48389627:G>A,NM_001844.4:c.654+31C>T,\N,\N,9/53,Unknown significance,\N,intron_variant,1.917,0.000465116,EVS_EA_AF,COL2A1
288747,12:48389627:G>T,NM_001844.4:c.654+31C>A,\N,\N,9/53,Unknown significance,\N,intron_variant,0.479,0.0000960984,EXAC_AFR_AF,COL2A1
288748,12:48389629:T>C,NM_001844.4:c.654+29A>G,\N,\N,9/53,Unknown significance,\N,intron_variant,0.483,0.000121124,EXAC_SAS_AF,COL2A1
288749,12:48389633:G>A,NM_001844.4:c.654+25C>T,\N,\N,9/53,Unknown significance,\N,intron_variant,4.22,0.000014984,EXAC_NFE_AF,COL2A1
288750,12:48389641:G>A,NM_001844.4:c.654+17C>T,\N,\N,9/53,Unknown significance,\N,intron_variant,1.84,0.0000299679,EXAC_NFE_AF,COL2A1
288751,12:48389643:A>C,NM_001844.4:c.654+15T>G,\N,\N,9/53,Benign,\N,intron_variant,1.597,0.8489,1KG_EUR_AF,COL2A1
288752,12:48389657:C>T,NM_001844.4:c.654+1G>A,\N,\N,9/53,Pathogenic,Stickler syndrome,splice_donor_variant,25.3,\N,\N,COL2A1
288753,12:48389665:C>T,NM_001844.4:c.647G>A,NP_001835.3:p.Gly216Asp,9/54,\N,Pathogenic,Stickler syndrome,missense_variant,24.9,\N,\N,COL2A1
288754,12:48389668:G>A,NM_001844.4:c.644C>T,NP_001835.3:p.Ala215Val,9/54,\N,Unknown significance,\N,missense_variant,23.1,0.0000961354,EXAC_AFR_AF,COL2A1
288755,12:48389668:G>T,NM_001844.4:c.644C>A,NP_001835.3:p.Ala215Glu,9/54,\N,Unknown significance,\N,missense_variant,22.9,0.0000149903,EXAC_NFE_AF,COL2A1
288756,12:48389674:C>T,NM_001844.4:c.638G>A,NP_001835.3:p.Gly213Asp,9/54,\N,Pathogenic,Legg-Calve-Perthes-like disease,missense_variant,25,\N,\N,COL2A1
288757,12:48389683:C>T,NM_001844.4:c.629G>A,NP_001835.3:p.Gly210Glu,9/54,\N,Pathogenic,Spondyloepiphyseal dysplasia / COL2A1-related dysplasia,missense_variant,25.3,\N,\N,COL2A1
288758,12:48389687:G>A,NM_001844.4:c.625C>T,NP_001835.3:p.Arg209Ter,9/54,\N,Pathogenic,Stickler syndrome,stop_gained,38,\N,\N,COL2A1
288759,12:48389701:C>A,NM_001844.4:c.611G>T,NP_001835.3:p.Gly204Val,9/54,\N,Pathogenic,Osteoarthritis| early progressive| with spondyloepiphyseal dysplasia,missense_variant&splice_region_variant,24.6,\N,\N,COL2A1
288760,12:48389701:C>G,NM_001844.4:c.611G>C,NP_001835.3:p.Gly204Ala,9/54,\N,Pathogenic,Arthritis| isolated,missense_variant&splice_region_variant,23.4,\N,\N,COL2A1
288761,12:48389707:A>G,NM_001844.4:c.610-5T>C,\N,\N,8/53,Unknown significance,\N,splice_region_variant&intron_variant,3.481,0.0000150164,EXAC_NFE_AF,COL2A1
288762,12:48389709:C>T,NM_001844.4:c.610-7G>A,\N,\N,8/53,Benign,\N,splice_region_variant&intron_variant,1.135,0.0613,1KG_AFR_AF,COL2A1
288763,12:48389710:G>A,NM_001844.4:c.610-8C>T,\N,\N,8/53,Unknown significance,\N,splice_region_variant&intron_variant,0.212,0.000226963,EVS_AA_AF,COL2A1
288764,12:48389716:GAA>G,NM_001844.4:c.610-16_610-15del,\N,\N,8/53,Unknown significance,\N,intron_variant,0.294,0.0000601088,EXAC_NFE_AF,COL2A1
288765,12:48389727:G>T,NM_001844.4:c.610-25C>A,\N,\N,8/53,Unknown significance,\N,intron_variant,0.196,0.001,1KG_EUR_AF,COL2A1
288766,12:48389736:A>G,NM_001844.4:c.610-34T>C,\N,\N,8/53,Benign,\N,intron_variant,1.403,0.0592765,EXAC_EAS_AF,COL2A1
288767,12:48389739:T>C,NM_001844.4:c.610-37A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,1.037,0.0000965065,EXAC_AFR_AF,COL2A1
288768,12:48389742:T>C,NM_001844.4:c.610-40A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,1.603,0.0014,1KG_AMR_AF,COL2A1
288769,12:48389750:T>C,NM_001844.4:c.610-48A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,0.155,0.0000151589,EXAC_NFE_AF,COL2A1
288770,12:48389751:G>A,NM_001844.4:c.610-49C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,13.51,0.000352526,EXAC_EAS_AF,COL2A1
288771,12:48389759:G>A,NM_001844.4:c.610-57C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,14.46,0.00216763,EVS_AA_AF,COL2A1
288772,12:48389773:C>T,NM_001844.4:c.610-71G>A,\N,\N,8/53,Unknown significance,\N,intron_variant,14.24,\N,\N,COL2A1
288773,12:48389784:G>T,NM_001844.4:c.610-82C>A,\N,\N,8/53,Unknown significance,\N,intron_variant,13.33,\N,\N,COL2A1
288774,12:48389788:G>A,NM_001844.4:c.610-86C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,13.49,\N,\N,COL2A1
288775,12:48389791:C>A,NM_001844.4:c.610-89G>T,\N,\N,8/53,Unknown significance,\N,intron_variant,16.73,\N,\N,COL2A1
288776,12:48389807:A>T,NM_001844.4:c.610-105T>A,\N,\N,8/53,Unknown significance,\N,intron_variant,12.03,0.0008,1KG_AFR_AF,COL2A1
288777,12:48389808:C>T,NM_001844.4:c.610-106G>A,\N,\N,8/53,Unknown significance,\N,intron_variant,14.05,\N,\N,COL2A1
288778,12:48389825:C>A,NM_001844.4:c.610-123G>T,\N,\N,8/53,Unknown significance,\N,intron_variant,4.371,0.0008,1KG_AFR_AF,COL2A1
288779,12:48389827:A>G,NM_001844.4:c.610-125T>C,\N,\N,8/53,Unknown significance,\N,intron_variant,0.05,0.001,1KG_EUR_AF,COL2A1
288780,12:48389861:C>T,NM_001844.4:c.610-159G>A,\N,\N,8/53,Unknown significance,\N,intron_variant,14.3,\N,\N,COL2A1
288781,12:48389862:G>A,NM_001844.4:c.610-160C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,13.43,\N,\N,COL2A1
288782,12:48389963:G>A,NM_001844.4:c.610-261C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,14.87,\N,\N,COL2A1
288783,12:48389967:G>A,NM_001844.4:c.610-265C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,14.28,\N,\N,COL2A1
288784,12:48389980:G>A,NM_001844.4:c.610-278C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,12.26,0.001,1KG_EAS_AF,COL2A1
288785,12:48389984:C>T,NM_001844.4:c.610-282G>A,\N,\N,8/53,Benign,\N,intron_variant,16.26,0.0083,1KG_AFR_AF,COL2A1
288786,12:48389985:G>A,NM_001844.4:c.610-283C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,15.08,0.001,1KG_EAS_AF,COL2A1
288787,12:48390052:T>C,NM_001844.4:c.609+279A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,13.23,0.001,1KG_EAS_AF,COL2A1
288788,12:48390060:C>T,NM_001844.4:c.609+271G>A,\N,\N,8/53,Unknown significance,\N,intron_variant,15.76,\N,\N,COL2A1
288789,12:48390069:A>G,NM_001844.4:c.609+262T>C,\N,\N,8/53,Unknown significance,\N,intron_variant,13.56,\N,\N,COL2A1
288790,12:48390080:T>C,NM_001844.4:c.609+251A>G,\N,\N,8/53,Benign,\N,intron_variant,10.57,0.998,1KG_EAS_AF,COL2A1
288791,12:48390088:C>T,NM_001844.4:c.609+243G>A,\N,\N,8/53,Unknown significance,\N,intron_variant,13.72,0.0008,1KG_AFR_AF,COL2A1
288792,12:48390099:A>G,NM_001844.4:c.609+232T>C,\N,\N,8/53,Unknown significance,\N,intron_variant,12.92,\N,\N,COL2A1
288793,12:48390109:C>T,NM_001844.4:c.609+222G>A,\N,\N,8/53,Unknown significance,\N,intron_variant,12.81,\N,\N,COL2A1
288794,12:48390127:T>C,NM_001844.4:c.609+204A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,11.54,\N,\N,COL2A1
288795,12:48390140:G>A,NM_001844.4:c.609+191C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,12.29,\N,\N,COL2A1
288796,12:48390162:T>C,NM_001844.4:c.609+169A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,11.77,0.0008,1KG_AFR_AF,COL2A1
288797,12:48390180:T>C,NM_001844.4:c.609+151A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,7.87,0.002,1KG_EAS_AF,COL2A1
288798,12:48390184:T>C,NM_001844.4:c.609+147A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,0.428,0.001,1KG_SAS_AF,COL2A1
288799,12:48390186:G>T,NM_001844.4:c.609+145C>A,\N,\N,8/53,Unknown significance,\N,intron_variant,0.96,0.0008,1KG_AFR_AF,COL2A1
288800,12:48390216:C>T,NM_001844.4:c.609+115G>A,\N,\N,8/53,Benign,\N,intron_variant,2.292,0.0424,1KG_AFR_AF,COL2A1
288801,12:48390259:G>A,NM_001844.4:c.609+72C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,16.92,\N,\N,COL2A1
288802,12:48390280:A>C,NM_001844.4:c.609+51T>G,\N,\N,8/53,Unknown significance,\N,intron_variant,13.58,0.000014984,EXAC_NFE_AF,COL2A1
288803,12:48390289:C>T,NM_001844.4:c.609+42G>A,\N,\N,8/53,Unknown significance,\N,intron_variant,14.5,0.000172741,EXAC_AMR_AF,COL2A1
288804,12:48390293:T>C,NM_001844.4:c.609+38A>G,\N,\N,8/53,Unknown significance,\N,intron_variant,13.57,0.000116279,EVS_EA_AF,COL2A1
288805,12:48390297:A>T,NM_001844.4:c.609+34T>A,\N,\N,8/53,Unknown significance,\N,intron_variant,13.26,\N,\N,COL2A1
288806,12:48390306:G>A,NM_001844.4:c.609+25C>T,\N,\N,8/53,Unknown significance,\N,intron_variant,9.628,0.000116279,EVS_EA_AF,COL2A1
288807,12:48390334:T>C,NM_001844.4:c.606A>G,NP_001835.3:p.Pro202=,8/54,\N,Unknown significance,\N,synonymous_variant,1.078,0.0000449506,EXAC_NFE_AF,COL2A1
288808,12:48390349:T>A,NM_001844.4:c.591A>T,NP_001835.3:p.Gly197=,8/54,\N,Unknown significance,\N,synonymous_variant,10.27,0.000115554,EXAC_EAS_AF,COL2A1
288809,12:48390354:A>G,NM_001844.4:c.586T>C,NP_001835.3:p.Leu196=,8/54,\N,Unknown significance,\N,synonymous_variant,6.048,0.000115554,EXAC_EAS_AF,COL2A1
288810,12:48390356:T>A,NM_001844.4:c.584A>T,NP_001835.3:p.Gln195Leu,8/54,\N,Unknown significance,\N,missense_variant,21.1,0.000116279,EVS_EA_AF,COL2A1
288811,12:48390360:C>T,NM_001844.4:c.580G>A,NP_001835.3:p.Ala194Thr,8/54,\N,Unknown significance,\N,missense_variant,23.6,0.000226963,EVS_AA_AF,COL2A1
288812,12:48390361:G>A,NM_001844.4:c.579C>T,NP_001835.3:p.Gly193=,8/54,\N,Unknown significance,\N,synonymous_variant,11.02,0.00030281,EXAC_SAS_AF,COL2A1
288813,12:48390362:C>T,NM_001844.4:c.578G>A,NP_001835.3:p.Gly193Asp,8/54,\N,Unknown significance,\N,missense_variant,21.3,0.0000599359,EXAC_NFE_AF,COL2A1
288814,12:48390367:AG>A,NM_001844.4:c.572del,NP_001835.3:p.Ala191ValfsTer8,8/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,33,\N,\N,COL2A1
288815,12:48390370:C>T,NM_001844.4:c.570G>A,NP_001835.3:p.Lys190=,8/54,\N,Unknown significance,\N,synonymous_variant,13.91,0.000302389,EXAC_FIN_AF,COL2A1
288816,12:48390376:A>G,NM_001844.4:c.564T>C,NP_001835.3:p.Asp188=,8/54,\N,Unknown significance,\N,synonymous_variant,4.396,0.000192271,EXAC_AFR_AF,COL2A1
288817,12:48390384:C>A,NM_001844.4:c.556G>T,NP_001835.3:p.Gly186Ter,8/54,\N,Pathogenic,Stickler syndrome,stop_gained,37,\N,\N,COL2A1
288818,12:48390390:C>T,NM_001844.4:c.550G>A,NP_001835.3:p.Ala184Thr,8/54,\N,Unknown significance,\N,missense_variant,21.9,0.00242662,EXAC_EAS_AF,COL2A1
288819,12:48390404:A>G,NM_001844.4:c.536T>C,NP_001835.3:p.Phe179Ser,8/54,\N,Unknown significance,\N,missense_variant,22.7,0.0000605767,EXAC_SAS_AF,COL2A1
288820,12:48390411:G>T,NM_001844.4:c.532-3C>A,\N,\N,7/53,Unknown significance,\N,splice_region_variant&intron_variant,12.59,0.0000149867,EXAC_NFE_AF,COL2A1
288821,12:48390419:A>C,NM_001844.4:c.532-11T>G,\N,\N,7/53,Unknown significance,\N,intron_variant,0.767,0.0000149876,EXAC_NFE_AF,COL2A1
288822,12:48390419:A>T,NM_001844.4:c.532-11T>A,\N,\N,7/53,Unknown significance,\N,intron_variant,1.202,0.000115607,EXAC_EAS_AF,COL2A1
288823,12:48390427:A>G,NM_001844.4:c.532-19T>C,\N,\N,7/53,Unknown significance,\N,intron_variant,0.076,0.0000149876,EXAC_NFE_AF,COL2A1
288824,12:48390428:C>T,NM_001844.4:c.532-20G>A,\N,\N,7/53,Unknown significance,\N,intron_variant,0.092,0.0000605767,EXAC_SAS_AF,COL2A1
288825,12:48390429:G>A,NM_001844.4:c.532-21C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,0.379,0.0000605767,EXAC_SAS_AF,COL2A1
288826,12:48390431:T>C,NM_001844.4:c.532-23A>G,\N,\N,7/53,Unknown significance,\N,intron_variant,0.172,0.0000149889,EXAC_NFE_AF,COL2A1
288827,12:48390435:A>T,NM_001844.4:c.532-27T>A,\N,\N,7/53,Benign,\N,intron_variant,0.399,0.0408,1KG_EUR_AF,COL2A1
288828,12:48390439:T>G,NM_001844.4:c.532-31A>C,\N,\N,7/53,Unknown significance,\N,intron_variant,2.744,0.0000605767,EXAC_SAS_AF,COL2A1
288829,12:48390446:C>T,NM_001844.4:c.532-38G>A,\N,\N,7/53,Unknown significance,\N,intron_variant,0.533,0.000116279,EVS_EA_AF,COL2A1
288830,12:48390451:G>T,NM_001844.4:c.532-43C>A,\N,\N,7/53,Unknown significance,\N,intron_variant,0.156,0.0000605767,EXAC_SAS_AF,COL2A1
288831,12:48390452:G>T,NM_001844.4:c.532-44C>A,\N,\N,7/53,Unknown significance,\N,intron_variant,0.054,0.0000299895,EXAC_NFE_AF,COL2A1
288832,12:48390454:C>T,NM_001844.4:c.532-46G>A,\N,\N,7/53,Unknown significance,\N,intron_variant,0.402,0.000060584,EXAC_SAS_AF,COL2A1
288833,12:48390475:G>A,NM_001844.4:c.532-67C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,0.63,\N,\N,COL2A1
288834,12:48390489:C>A,NM_001844.4:c.532-81G>T,\N,\N,7/53,Unknown significance,\N,intron_variant,2.817,0.001,1KG_EAS_AF,COL2A1
288835,12:48390490:A>C,NM_001844.4:c.532-82T>G,\N,\N,7/53,Unknown significance,\N,intron_variant,1.751,\N,\N,COL2A1
288836,12:48390503:G>C,NM_001844.4:c.532-95C>G,\N,\N,7/53,Unknown significance,\N,intron_variant,0.022,\N,\N,COL2A1
288837,12:48390517:T>C,NM_001844.4:c.532-109A>G,\N,\N,7/53,Unknown significance,\N,intron_variant,0.028,0.001,1KG_EAS_AF,COL2A1
288838,12:48390563:G>A,NM_001844.4:c.532-155C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,1.146,0.0014,1KG_AMR_AF,COL2A1
288839,12:48390585:T>A,NM_001844.4:c.532-177A>T,\N,\N,7/53,Benign,\N,intron_variant,1.096,0.3026,1KG_EAS_AF,COL2A1
288840,12:48390637:A>G,NM_001844.4:c.532-229T>C,\N,\N,7/53,Unknown significance,\N,intron_variant,0.286,0.0029,1KG_AMR_AF,COL2A1
288841,12:48390664:T>G,NM_001844.4:c.532-256A>C,\N,\N,7/53,Unknown significance,\N,intron_variant,1.052,\N,\N,COL2A1
288842,12:48390667:A>G,NM_001844.4:c.532-259T>C,\N,\N,7/53,Unknown significance,\N,intron_variant,0.968,\N,\N,COL2A1
288843,12:48390690:A>T,NM_001844.4:c.532-282T>A,\N,\N,7/53,Benign,\N,intron_variant,0.088,0.0121,1KG_AFR_AF,COL2A1
288844,12:48390712:G>A,NM_001844.4:c.532-304C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,0.109,\N,\N,COL2A1
288845,12:48390722:A>G,NM_001844.4:c.532-314T>C,\N,\N,7/53,Benign,\N,intron_variant,1.226,0.6779,1KG_EUR_AF,COL2A1
288846,12:48390735:C>T,NM_001844.4:c.532-327G>A,\N,\N,7/53,Benign,\N,intron_variant,2.943,0.0129,1KG_AFR_AF,COL2A1
288847,12:48390757:C>A,NM_001844.4:c.532-349G>T,\N,\N,7/53,Unknown significance,\N,intron_variant,0.433,0.0014,1KG_AMR_AF,COL2A1
288848,12:48390775:C>T,NM_001844.4:c.532-367G>A,\N,\N,7/53,Unknown significance,\N,intron_variant,4.927,0.001,1KG_EUR_AF,COL2A1
288849,12:48390837:G>C,NM_001844.4:c.532-429C>G,\N,\N,7/53,Benign,\N,intron_variant,0.103,0.0123,1KG_SAS_AF,COL2A1
288850,12:48390839:T>G,NM_001844.4:c.532-431A>C,\N,\N,7/53,Benign,\N,intron_variant,0.563,0.6779,1KG_EUR_AF,COL2A1
288851,12:48390858:T>C,NM_001844.4:c.532-450A>G,\N,\N,7/53,Unknown significance,\N,intron_variant,5.684,0.002,1KG_EUR_AF,COL2A1
288852,12:48390866:A>G,NM_001844.4:c.532-458T>C,\N,\N,7/53,Unknown significance,\N,intron_variant,1.304,\N,\N,COL2A1
288853,12:48390916:T>C,NM_001844.4:c.531+473A>G,\N,\N,7/53,Unknown significance,\N,intron_variant,13.65,0.0008,1KG_AFR_AF,COL2A1
288854,12:48390938:A>T,NM_001844.4:c.531+451T>A,\N,\N,7/53,Unknown significance,\N,intron_variant,12.07,0.0015,1KG_AFR_AF,COL2A1
288855,12:48390967:G>T,NM_001844.4:c.531+422C>A,\N,\N,7/53,Benign,\N,intron_variant,17.66,0.0076,1KG_AFR_AF,COL2A1
288856,12:48391054:C>T,NM_001844.4:c.531+335G>A,\N,\N,7/53,Unknown significance,\N,intron_variant,18.57,0.0014,1KG_AMR_AF,COL2A1
288857,12:48391055:G>A,NM_001844.4:c.531+334C>T,\N,\N,7/53,Benign,\N,intron_variant,16.42,0.3658,1KG_EUR_AF,COL2A1
288858,12:48391087:C>T,NM_001844.4:c.531+302G>A,\N,\N,7/53,Benign,\N,intron_variant,1.347,0.007,1KG_EUR_AF,COL2A1
288859,12:48391088:T>C,NM_001844.4:c.531+301A>G,\N,\N,7/53,Unknown significance,\N,intron_variant,0.664,\N,\N,COL2A1
288860,12:48391094:C>T,NM_001844.4:c.531+295G>A,\N,\N,7/53,Benign,\N,intron_variant,2.141,0.3016,1KG_EAS_AF,COL2A1
288861,12:48391127:C>T,NM_001844.4:c.531+262G>A,\N,\N,7/53,Benign,\N,intron_variant,5.421,0.3016,1KG_EAS_AF,COL2A1
288862,12:48391161:G>A,NM_001844.4:c.531+228C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,17.58,\N,\N,COL2A1
288863,12:48391196:C>G,NM_001844.4:c.531+193G>C,\N,\N,7/53,Unknown significance,\N,intron_variant,1.479,\N,\N,COL2A1
288864,12:48391199:G>A,NM_001844.4:c.531+190C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,3.571,0.003,1KG_AFR_AF,COL2A1
288865,12:48391249:G>A,NM_001844.4:c.531+140C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,10.76,\N,\N,COL2A1
288866,12:48391342:C>T,NM_001844.4:c.531+47G>A,\N,\N,7/53,Unknown significance,\N,intron_variant,18.37,0.000226963,EVS_AA_AF,COL2A1
288867,12:48391352:G>A,NM_001844.4:c.531+37C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,17.6,0.000115902,EXAC_EAS_AF,COL2A1
288868,12:48391358:G>C,NM_001844.4:c.531+31C>G,\N,\N,7/53,Unknown significance,\N,intron_variant,13.16,0.0000153468,EXAC_NFE_AF,COL2A1
288869,12:48391360:C>T,NM_001844.4:c.531+29G>A,\N,\N,7/53,Unknown significance,\N,intron_variant,15.44,0.0000306683,EXAC_NFE_AF,COL2A1
288870,12:48391371:G>A,NM_001844.4:c.531+18C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,17.06,0.00017334,EXAC_AMR_AF,COL2A1
288871,12:48391371:G>C,NM_001844.4:c.531+18C>G,\N,\N,7/53,Unknown significance,\N,intron_variant,14.86,0.0000153191,EXAC_NFE_AF,COL2A1
288872,12:48391375:G>C,NM_001844.4:c.531+14C>G,\N,\N,7/53,Unknown significance,\N,intron_variant,13.23,0.0000605694,EXAC_SAS_AF,COL2A1
288873,12:48391379:G>A,NM_001844.4:c.531+10C>T,\N,\N,7/53,Unknown significance,\N,intron_variant,19.23,0.000519751,EXAC_AMR_AF,COL2A1
288874,12:48391385:T>A,NM_001844.4:c.531+4A>T,\N,\N,7/53,Unknown significance,\N,splice_region_variant&intron_variant,15.47,0.0000152933,EXAC_NFE_AF,COL2A1
288875,12:48391390:C>T,NM_001844.4:c.530G>A,NP_001835.3:p.Gly177Glu,7/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,23,0.00017322,EXAC_AMR_AF,COL2A1
288876,12:48391392:A>T,NM_001844.4:c.528T>A,NP_001835.3:p.Gly176=,7/54,\N,Unknown significance,\N,synonymous_variant,7.718,0.0031,1KG_SAS_AF,COL2A1
288877,12:48391394:C>A,NM_001844.4:c.526G>T,NP_001835.3:p.Gly176Cys,7/54,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,COL2A1
288878,12:48391394:C>T,NM_001844.4:c.526G>A,NP_001835.3:p.Gly176Ser,7/54,\N,Unknown significance,\N,missense_variant,20.7,0.0008,1KG_AFR_AF,COL2A1
288879,12:48391402:G>C,NM_001844.4:c.518C>G,NP_001835.3:p.Pro173Arg,7/54,\N,Unknown significance,\N,missense_variant,15.66,0.0000458954,EXAC_NFE_AF,COL2A1
288880,12:48391406:GA>G,NM_001844.4:c.513del,NP_001835.3:p.Pro173LeufsTer26,7/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,15.25,\N,\N,COL2A1
288881,12:48391410:A>AG,NM_001844.4:c.509dup,NP_001835.3:p.Gly171TrpfsTer18,7/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,26.7,\N,\N,COL2A1
288882,12:48391412:G>A,NM_001844.4:c.508C>T,NP_001835.3:p.Pro170Ser,7/54,\N,Unknown significance,\N,missense_variant,20.6,0.00317508,EXAC_FIN_AF,COL2A1
288883,12:48391412:G>C,NM_001844.4:c.508C>G,NP_001835.3:p.Pro170Ala,7/54,\N,Unknown significance,\N,missense_variant,15.92,0.0000152639,EXAC_NFE_AF,COL2A1
288884,12:48391413:G>A,NM_001844.4:c.507C>T,NP_001835.3:p.Pro169=,7/54,\N,Unknown significance,\N,synonymous_variant,6.804,0.002,1KG_SAS_AF,COL2A1
288885,12:48391414:G>T,NM_001844.4:c.506C>A,NP_001835.3:p.Pro169His,7/54,\N,Unknown significance,\N,missense_variant,14.36,0.00025974,EXAC_AMR_AF,COL2A1
288886,12:48391415:G>A,NM_001844.4:c.505C>T,NP_001835.3:p.Pro169Ser,7/54,\N,Unknown significance,\N,missense_variant,17.48,0.000116063,EXAC_EAS_AF,COL2A1
288887,12:48391416:G>T,NM_001844.4:c.504C>A,NP_001835.3:p.Gly168=,7/54,\N,Benign,\N,synonymous_variant,6.591,0.326067,EXAC_EAS_AF,COL2A1
288888,12:48391416:G>A,NM_001844.4:c.504C>T,NP_001835.3:p.Gly168=,7/54,\N,Unknown significance,\N,synonymous_variant,8.949,0.0000866852,EXAC_AMR_AF,COL2A1
288889,12:48391419:G>A,NM_001844.4:c.501C>T,NP_001835.3:p.Pro167=,7/54,\N,Unknown significance,\N,synonymous_variant,11.51,0.000151194,EXAC_FIN_AF,COL2A1
288890,12:48391427:CA>C,NM_001844.4:c.492del,NP_001835.3:p.Gly165ValfsTer34,7/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,25.5,\N,\N,COL2A1
288891,12:48391429:G>T,NM_001844.4:c.491C>A,NP_001835.3:p.Pro164His,7/54,\N,Unknown significance,\N,missense_variant,23.1,0.000115929,EXAC_EAS_AF,COL2A1
288892,12:48391431:G>A,NM_001844.4:c.489C>T,NP_001835.3:p.Pro163=,7/54,\N,Unknown significance,\N,synonymous_variant,9.341,0.00025965,EXAC_AMR_AF,COL2A1
288893,12:48391445:C>CGGG,NM_001844.4:c.474_475insCCC,NP_001835.3:p.Pro158dup,7/54,\N,Unknown significance,\N,inframe_insertion,18.22,\N,\N,COL2A1
288894,12:48391447:G>A,NM_001844.4:c.473C>T,NP_001835.3:p.Pro158Leu,7/54,\N,Unknown significance,\N,missense_variant,23.7,\N,\N,COL2A1
288895,12:48391448:G>GACCAGGGGGGCCAGGATTTCCAGC,NM_001844.4:c.471_472insGCTGGAAATCCTGGCCCCCCTGGT,NP_001835.3:p.Thr157_Pro158insAlaGlyAsnProGlyProProGly,7/54,\N,Unknown significance,\N,inframe_insertion,15.21,\N,\N,COL2A1
288896,12:48391450:G>T,NM_001844.4:c.470C>A,NP_001835.3:p.Thr157Asn,7/54,\N,Unknown significance,\N,missense_variant,17.32,0.0000969368,EXAC_AFR_AF,COL2A1
288897,12:48391452:C>T,NM_001844.4:c.468G>A,NP_001835.3:p.Gly156=,7/54,\N,Unknown significance,\N,synonymous_variant,13.39,0.000151194,EXAC_FIN_AF,COL2A1
288898,12:48391457:G>T,NM_001844.4:c.463C>A,NP_001835.3:p.Pro155Thr,7/54,\N,Unknown significance,\N,missense_variant,23.6,0.0000864155,EXAC_AMR_AF,COL2A1
288899,12:48391465:T>A,NM_001844.4:c.455A>T,NP_001835.3:p.Asp152Val,7/54,\N,Unknown significance,\N,missense_variant,24.2,0.00111607,EXAC_OTH_AF,COL2A1
288900,12:48391469:T>C,NM_001844.4:c.451A>G,NP_001835.3:p.Arg151Gly,7/54,\N,Unknown significance,\N,missense_variant,15.61,0.000060562,EXAC_SAS_AF,COL2A1
288901,12:48391470:G>C,NM_001844.4:c.450C>G,NP_001835.3:p.Gly150=,7/54,\N,Unknown significance,\N,synonymous_variant,7.644,\N,\N,COL2A1
288902,12:48391472:C>T,NM_001844.4:c.448G>A,NP_001835.3:p.Gly150Ser,7/54,\N,Unknown significance,\N,missense_variant,24.8,0.00011558,EXAC_EAS_AF,COL2A1
288903,12:48391474:C>T,NM_001844.4:c.446G>A,NP_001835.3:p.Arg149His,7/54,\N,Unknown significance,\N,missense_variant,27.8,0.000060562,EXAC_SAS_AF,COL2A1
288904,12:48391475:G>A,NM_001844.4:c.445C>T,NP_001835.3:p.Arg149Cys,7/54,\N,Unknown significance,\N,missense_variant,26.4,0.000226963,EVS_AA_AF,COL2A1
288905,12:48391479:T>C,NM_001844.4:c.441A>G,NP_001835.3:p.Gly147=,7/54,\N,Unknown significance,\N,synonymous_variant,3.02,0.0008,1KG_AFR_AF,COL2A1
288906,12:48391486:G>A,NM_001844.4:c.434C>T,NP_001835.3:p.Ala145Val,7/54,\N,Likely benign,\N,missense_variant,16.68,0.0000150182,EXAC_NFE_AF,COL2A1
288907,12:48391489:C>A,NM_001844.4:c.431G>T,NP_001835.3:p.Gly144Val,7/54,\N,Pathogenic,Stickler syndrome,missense_variant&splice_region_variant,24.9,\N,\N,COL2A1
288908,12:48391491:C>G,NM_001844.4:c.430-1G>C,\N,\N,6/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,26,\N,\N,COL2A1
288909,12:48391509:A>G,NM_001844.4:c.430-19T>C,\N,\N,6/53,Unknown significance,\N,intron_variant,11.99,0.003,1KG_EAS_AF,COL2A1
288910,12:48391511:G>A,NM_001844.4:c.430-21C>T,\N,\N,6/53,Unknown significance,\N,intron_variant,12.46,0.00110132,EXAC_OTH_AF,COL2A1
288911,12:48391517:A>G,NM_001844.4:c.430-27T>C,\N,\N,6/53,Unknown significance,\N,intron_variant,9.127,0.000119998,EXAC_NFE_AF,COL2A1
288912,12:48391520:G>T,NM_001844.4:c.430-30C>A,\N,\N,6/53,Unknown significance,\N,intron_variant,6.177,0.000284986,EXAC_NFE_AF,COL2A1
288913,12:48391521:G>A,NM_001844.4:c.430-31C>T,\N,\N,6/53,Unknown significance,\N,intron_variant,9.001,0.0000149979,EXAC_NFE_AF,COL2A1
288914,12:48391527:G>A,NM_001844.4:c.430-37C>T,\N,\N,6/53,Unknown significance,\N,intron_variant,6.5,0.000226963,EVS_AA_AF,COL2A1
288915,12:48391527:G>T,NM_001844.4:c.430-37C>A,\N,\N,6/53,Unknown significance,\N,intron_variant,4.998,0.0000149961,EXAC_NFE_AF,COL2A1
288916,12:48391533:C>T,NM_001844.4:c.430-43G>A,\N,\N,6/53,Unknown significance,\N,intron_variant,9.842,0.00340445,EVS_AA_AF,COL2A1
288917,12:48391537:A>T,NM_001844.4:c.430-47T>A,\N,\N,6/53,Unknown significance,\N,intron_variant,7.139,0.0000863707,EXAC_AMR_AF,COL2A1
288918,12:48391576:C>A,NM_001844.4:c.429+78G>T,\N,\N,6/53,Unknown significance,\N,intron_variant,5.174,\N,\N,COL2A1
288919,12:48391582:C>G,NM_001844.4:c.429+72G>C,\N,\N,6/53,Unknown significance,\N,intron_variant,1.448,0.000628536,EVS_EA_AF,COL2A1
288920,12:48391604:G>T,NM_001844.4:c.429+50C>A,\N,\N,6/53,Unknown significance,\N,intron_variant,4.102,0.000231107,EXAC_EAS_AF,COL2A1
288921,12:48391610:C>T,NM_001844.4:c.429+44G>A,\N,\N,6/53,Unknown significance,\N,intron_variant,4.404,0.000115554,EXAC_EAS_AF,COL2A1
288922,12:48391613:G>A,NM_001844.4:c.429+41C>T,\N,\N,6/53,Unknown significance,\N,intron_variant,5.723,0.000116279,EVS_EA_AF,COL2A1
288923,12:48391614:G>C,NM_001844.4:c.429+40C>G,\N,\N,6/53,Unknown significance,\N,intron_variant,1.168,0.0000961538,EXAC_AFR_AF,COL2A1
288924,12:48391621:CA>C,NM_001844.4:c.429+32del,\N,\N,6/53,Unknown significance,\N,intron_variant,7.124,\N,\N,COL2A1
288925,12:48391624:CAGGGT>C,NM_001844.4:c.429+25_429+29del,\N,\N,6/53,Unknown significance,\N,intron_variant,7.614,\N,\N,COL2A1
288926,12:48391631:A>C,NM_001844.4:c.429+23T>G,\N,\N,6/53,Unknown significance,\N,intron_variant,2.108,\N,\N,COL2A1
288927,12:48391642:C>G,NM_001844.4:c.429+12G>C,\N,\N,6/53,Unknown significance,\N,intron_variant,9.334,0.0000605767,EXAC_SAS_AF,COL2A1
288928,12:48391646:T>G,NM_001844.4:c.429+8A>C,\N,\N,6/53,Unknown significance,\N,splice_region_variant&intron_variant,9.781,0.0000864006,EXAC_AMR_AF,COL2A1
288929,12:48391657:T>A,NM_001844.4:c.426A>T,NP_001835.3:p.Glu142Asp,6/54,\N,Benign,\N,missense_variant,14.6,0.0573951,EXAC_OTH_AF,COL2A1
288930,12:48391673:C>T,NM_001844.4:c.410G>A,NP_001835.3:p.Arg137His,6/54,\N,Benign,\N,missense_variant,24.7,0.00550661,EXAC_OTH_AF,COL2A1
288931,12:48391674:G>A,NM_001844.4:c.409C>T,NP_001835.3:p.Arg137Cys,6/54,\N,Unknown significance,\N,missense_variant,26.2,0.0000963206,EXAC_AFR_AF,COL2A1
288932,12:48391676:T>TC,NM_001844.4:c.406dup,NP_001835.3:p.Asp136GlyfsTer4,6/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,34,\N,\N,COL2A1
288933,12:48391685:G>T,NM_001844.4:c.398C>A,NP_001835.3:p.Pro133His,6/54,\N,Unknown significance,\N,missense_variant,22.8,0.00181571,EVS_AA_AF,COL2A1
288934,12:48391691:T>G,NM_001844.4:c.392A>C,NP_001835.3:p.Gln131Pro,6/54,\N,Unknown significance,\N,missense_variant,21.4,0.000115554,EXAC_EAS_AF,COL2A1
288935,12:48391695:C>G,NM_001844.4:c.388G>C,NP_001835.3:p.Glu130Gln,6/54,\N,Unknown significance,\N,missense_variant,21.2,0.000116279,EVS_EA_AF,COL2A1
288936,12:48391700:G>A,NM_001844.4:c.383C>T,NP_001835.3:p.Ala128Val,6/54,\N,Unknown significance,\N,missense_variant,23,0.0000149921,EXAC_NFE_AF,COL2A1
288937,12:48391722:C>T,NM_001844.4:c.376-15G>A,\N,\N,5/53,Unknown significance,\N,intron_variant,1.963,\N,\N,COL2A1
288938,12:48391723:A>G,NM_001844.4:c.376-16T>C,\N,\N,5/53,Unknown significance,\N,intron_variant,1.352,0.000121139,EXAC_SAS_AF,COL2A1
288939,12:48391724:T>C,NM_001844.4:c.376-17A>G,\N,\N,5/53,Unknown significance,\N,intron_variant,2.232,0.000226963,EVS_AA_AF,COL2A1
288940,12:48391725:G>A,NM_001844.4:c.376-18C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,4.67,0.0000149885,EXAC_NFE_AF,COL2A1
288941,12:48391728:A>C,NM_001844.4:c.376-21T>G,\N,\N,5/53,Unknown significance,\N,intron_variant,2.783,0.0000149876,EXAC_NFE_AF,COL2A1
288942,12:48391737:G>A,NM_001844.4:c.376-30C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,11.72,0.0000149876,EXAC_NFE_AF,COL2A1
288943,12:48391742:G>A,NM_001844.4:c.376-35C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,9.848,0.0000863856,EXAC_AMR_AF,COL2A1
288944,12:48391747:G>A,NM_001844.4:c.376-40C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,2.776,\N,\N,COL2A1
288945,12:48391747:GAGCCTGC>G,NM_001844.4:c.376-47_376-41del,\N,\N,5/53,Unknown significance,\N,intron_variant,7.901,\N,\N,COL2A1
288946,12:48391755:A>G,NM_001844.4:c.376-48T>C,\N,\N,5/53,Unknown significance,\N,intron_variant,6.574,0.000060562,EXAC_SAS_AF,COL2A1
288947,12:48391764:A>G,NM_001844.4:c.375+51T>C,\N,\N,5/53,Unknown significance,\N,intron_variant,5.313,0.000104891,EXAC_NFE_AF,COL2A1
288948,12:48391769:C>T,NM_001844.4:c.375+46G>A,\N,\N,5/53,Benign,\N,intron_variant,1.444,0.0613,1KG_AFR_AF,COL2A1
288949,12:48391770:G>A,NM_001844.4:c.375+45C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,0.886,0.00259565,EXAC_AFR_AF,COL2A1
288950,12:48391771:C>T,NM_001844.4:c.375+44G>A,\N,\N,5/53,Unknown significance,\N,intron_variant,0.237,0.0015,1KG_AFR_AF,COL2A1
288951,12:48391772:G>A,NM_001844.4:c.375+43C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,1.923,\N,\N,COL2A1
288952,12:48391777:G>A,NM_001844.4:c.375+38C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,0.884,0.000115554,EXAC_EAS_AF,COL2A1
288953,12:48391779:G>C,NM_001844.4:c.375+36C>G,\N,\N,5/53,Unknown significance,\N,intron_variant,2.149,0.000060562,EXAC_SAS_AF,COL2A1
288954,12:48391787:C>T,NM_001844.4:c.375+28G>A,\N,\N,5/53,Unknown significance,\N,intron_variant,1.262,0.00112321,EXAC_AMR_AF,COL2A1
288955,12:48391788:G>A,NM_001844.4:c.375+27C>T,\N,\N,5/53,Unknown significance,\N,intron_variant,5.069,0.00205911,EXAC_SAS_AF,COL2A1
288956,12:48391794:A>G,NM_001844.4:c.375+21T>C,\N,\N,5/53,Unknown significance,\N,intron_variant,2.856,0.0000864155,EXAC_AMR_AF,COL2A1
288957,12:48391805:C>T,NM_001844.4:c.375+10G>A,\N,\N,5/53,Unknown significance,\N,intron_variant,13.44,0.0000149871,EXAC_NFE_AF,COL2A1
288958,12:48391805:CCT>C,NM_001844.4:c.375+8_375+9del,\N,\N,5/53,Unknown significance,\N,splice_region_variant&intron_variant,14.83,0.000231107,EXAC_EAS_AF,COL2A1
288959,12:48391819:G>A,NM_001844.4:c.371C>T,NP_001835.3:p.Pro124Leu,5/54,\N,Unknown significance,\N,missense_variant,23.1,0.000151194,EXAC_FIN_AF,COL2A1
288960,12:48391819:G>C,NM_001844.4:c.371C>G,NP_001835.3:p.Pro124Arg,5/54,\N,Unknown significance,\N,missense_variant,22.4,0.0000961169,EXAC_AFR_AF,COL2A1
288961,12:48391821:C>T,NM_001844.4:c.369G>A,NP_001835.3:p.Gly123=,5/54,\N,Unknown significance,\N,synonymous_variant,17.89,0.0000149862,EXAC_NFE_AF,COL2A1
288962,12:48391824:A>T,NM_001844.4:c.366T>A,NP_001835.3:p.Pro122=,5/54,\N,Unknown significance,\N,synonymous_variant,4.633,0.0000149862,EXAC_NFE_AF,COL2A1
288963,12:48391834:T>C,NM_001844.4:c.356A>G,NP_001835.3:p.Lys119Arg,5/54,\N,Likely benign,\N,missense_variant,11.93,0.0000299724,EXAC_NFE_AF,COL2A1
288964,12:48391837:G>A,NM_001844.4:c.353C>T,NP_001835.3:p.Pro118Leu,5/54,\N,Unknown significance,\N,missense_variant,20.7,0.000181686,EXAC_SAS_AF,COL2A1
288965,12:48391840:C>G,NM_001844.4:c.350G>C,NP_001835.3:p.Gly117Ala,5/54,\N,Unknown significance,\N,missense_variant,24,0.000194832,EXAC_NFE_AF,COL2A1
288966,12:48391841:C>G,NM_001844.4:c.349G>C,NP_001835.3:p.Gly117Arg,5/54,\N,Unknown significance,\N,missense_variant,25.5,0.0000864304,EXAC_AMR_AF,COL2A1
288967,12:48391843:A>G,NM_001844.4:c.347T>C,NP_001835.3:p.Val116Ala,5/54,\N,Unknown significance,\N,missense_variant,13.98,0.0000864304,EXAC_AMR_AF,COL2A1
288968,12:48391850:G>A,NM_001844.4:c.343-3C>T,\N,\N,4/53,Unknown significance,\N,splice_region_variant&intron_variant,14.09,0.0000149867,EXAC_NFE_AF,COL2A1
288969,12:48391851:T>C,NM_001844.4:c.343-4A>G,\N,\N,4/53,Unknown significance,\N,splice_region_variant&intron_variant,6.414,\N,\N,COL2A1
288970,12:48391851:T>TGA,NM_001844.4:c.343-6_343-5dup,\N,\N,4/53,Unknown significance,\N,splice_region_variant&intron_variant,8.291,\N,\N,COL2A1
288971,12:48391853:A>C,NM_001844.4:c.343-6T>G,\N,\N,4/53,Unknown significance,\N,splice_region_variant&intron_variant,7.873,0.000116279,EVS_EA_AF,COL2A1
288972,12:48391856:G>C,NM_001844.4:c.343-9C>G,\N,\N,4/53,Unknown significance,\N,intron_variant,2.673,0.0000149871,EXAC_NFE_AF,COL2A1
288973,12:48391863:C>A,NM_001844.4:c.343-16G>T,\N,\N,4/53,Unknown significance,\N,intron_variant,5.615,0.0000149862,EXAC_NFE_AF,COL2A1
288974,12:48391868:G>T,NM_001844.4:c.343-21C>A,\N,\N,4/53,Unknown significance,\N,intron_variant,3.846,0.0015,1KG_AFR_AF,COL2A1
288975,12:48391869:G>A,NM_001844.4:c.343-22C>T,\N,\N,4/53,Unknown significance,\N,intron_variant,7.571,0.0000149862,EXAC_NFE_AF,COL2A1
288976,12:48391871:T>C,NM_001844.4:c.343-24A>G,\N,\N,4/53,Unknown significance,\N,intron_variant,5.883,0.000181686,EXAC_SAS_AF,COL2A1
288977,12:48391871:TG>T,NM_001844.4:c.343-25del,\N,\N,4/53,Unknown significance,\N,intron_variant,5.928,0.0000149862,EXAC_NFE_AF,COL2A1
288978,12:48391873:G>C,NM_001844.4:c.343-26C>G,\N,\N,4/53,Unknown significance,\N,intron_variant,1.104,\N,\N,COL2A1
288979,12:48391874:T>C,NM_001844.4:c.343-27A>G,\N,\N,4/53,Unknown significance,\N,intron_variant,4.818,\N,\N,COL2A1
288980,12:48391874:TAA>T,NM_001844.4:c.343-29_343-28del,\N,\N,4/53,Unknown significance,\N,intron_variant,11.2,\N,\N,COL2A1
288981,12:48391875:A>C,NM_001844.4:c.343-28T>G,\N,\N,4/53,Unknown significance,\N,intron_variant,0.783,0.0000149867,EXAC_NFE_AF,COL2A1
288982,12:48391884:G>A,NM_001844.4:c.343-37C>T,\N,\N,4/53,Unknown significance,\N,intron_variant,15,0.0000299724,EXAC_NFE_AF,COL2A1
288983,12:48391887:AG>A,NM_001844.4:c.343-41del,\N,\N,4/53,Unknown significance,\N,intron_variant,14.22,0.0000899173,EXAC_NFE_AF,COL2A1
288984,12:48391899:TG>T,NM_001844.4:c.342+52del,\N,\N,4/53,Unknown significance,\N,intron_variant,16.13,0.000115554,EXAC_EAS_AF,COL2A1
288985,12:48391900:G>A,NM_001844.4:c.342+52C>T,\N,\N,4/53,Unknown significance,\N,intron_variant,15.9,0.000139587,EVS_EA_AF,COL2A1
288986,12:48391903:C>T,NM_001844.4:c.342+49G>A,\N,\N,4/53,Unknown significance,\N,intron_variant,11.94,0.0000149849,EXAC_NFE_AF,COL2A1
288987,12:48391912:G>A,NM_001844.4:c.342+40C>T,\N,\N,4/53,Unknown significance,\N,intron_variant,11.19,0.000423934,EXAC_SAS_AF,COL2A1
288988,12:48391912:G>T,NM_001844.4:c.342+40C>A,\N,\N,4/53,Unknown significance,\N,intron_variant,10.02,0.000151194,EXAC_FIN_AF,COL2A1
288989,12:48391913:C>T,NM_001844.4:c.342+39G>A,\N,\N,4/53,Unknown significance,\N,intron_variant,11.42,0.000014984,EXAC_NFE_AF,COL2A1
288990,12:48391918:G>C,NM_001844.4:c.342+34C>G,\N,\N,4/53,Unknown significance,\N,intron_variant,1.171,0.0008,1KG_AFR_AF,COL2A1
288991,12:48391921:G>T,NM_001844.4:c.342+31C>A,\N,\N,4/53,Unknown significance,\N,intron_variant,2.696,0.000115554,EXAC_EAS_AF,COL2A1
288992,12:48391927:C>T,NM_001844.4:c.342+25G>A,\N,\N,4/53,Unknown significance,\N,intron_variant,2.462,0.001,1KG_SAS_AF,COL2A1
288993,12:48391928:C>T,NM_001844.4:c.342+24G>A,\N,\N,4/53,Unknown significance,\N,intron_variant,2.202,0.000115554,EXAC_EAS_AF,COL2A1
288994,12:48391929:G>A,NM_001844.4:c.342+23C>T,\N,\N,4/53,Unknown significance,\N,intron_variant,0.441,0.0000149849,EXAC_NFE_AF,COL2A1
288995,12:48391933:G>A,NM_001844.4:c.342+19C>T,\N,\N,4/53,Unknown significance,\N,intron_variant,0.714,0.000116279,EVS_EA_AF,COL2A1
288996,12:48391944:G>A,NM_001844.4:c.342+8C>T,\N,\N,4/53,Unknown significance,\N,splice_region_variant&intron_variant,2.044,0.0000864155,EXAC_AMR_AF,COL2A1
288997,12:48391944:G>T,NM_001844.4:c.342+8C>A,\N,\N,4/53,Unknown significance,\N,splice_region_variant&intron_variant,1.112,0.0000149858,EXAC_NFE_AF,COL2A1
288998,12:48391951:C>T,NM_001844.4:c.342+1G>A,\N,\N,4/53,Pathogenic,Stickler syndrome,splice_donor_variant,27.5,\N,\N,COL2A1
288999,12:48391953:T>C,NM_001844.4:c.341A>G,NP_001835.3:p.Asp114Gly,4/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.6,0.0000605767,EXAC_SAS_AF,COL2A1
289000,12:48391955:C>T,NM_001844.4:c.339G>A,NP_001835.3:p.Lys113=,4/54,\N,Unknown significance,\N,synonymous_variant,17.3,0.0000149876,EXAC_NFE_AF,COL2A1
289001,12:48391960:T>C,NM_001844.4:c.334A>G,NP_001835.3:p.Ile112Val,4/54,\N,Unknown significance,\N,missense_variant,12.34,0.0000149894,EXAC_NFE_AF,COL2A1
289002,12:48391961:G>T,NM_001844.4:c.333C>A,NP_001835.3:p.Asp111Glu,4/54,\N,Likely benign,\N,missense_variant,18.97,0.0000864454,EXAC_AMR_AF,COL2A1
289003,12:48391968:G>C,NM_001844.4:c.326C>G,NP_001835.3:p.Pro109Arg,4/54,\N,Unknown significance,\N,missense_variant,22.9,0.000116279,EVS_EA_AF,COL2A1
289004,12:48391969:G>A,NM_001844.4:c.325C>T,NP_001835.3:p.Pro109Ser,4/54,\N,Unknown significance,\N,missense_variant,23.5,0.000116279,EVS_EA_AF,COL2A1
289005,12:48391982:T>C,NM_001844.4:c.312A>G,NP_001835.3:p.Gly104=,4/54,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.27,0.003,1KG_EAS_AF,COL2A1
289006,12:48391984:C>T,NM_001844.4:c.310G>A,NP_001835.3:p.Gly104Arg,4/54,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.5,0.0000149993,EXAC_NFE_AF,COL2A1
289007,12:48391991:C>T,NM_001844.4:c.310-7G>A,\N,\N,3/53,Unknown significance,\N,splice_region_variant&intron_variant,13.81,0.0000600132,EXAC_NFE_AF,COL2A1
289008,12:48391993:T>G,NM_001844.4:c.310-9A>C,\N,\N,3/53,Unknown significance,\N,intron_variant,15.51,0.000115634,EXAC_EAS_AF,COL2A1
289009,12:48392001:T>C,NM_001844.4:c.310-17A>G,\N,\N,3/53,Unknown significance,\N,intron_variant,16.5,0.001,1KG_SAS_AF,COL2A1
289010,12:48392002:C>G,NM_001844.4:c.310-18G>C,\N,\N,3/53,Unknown significance,\N,intron_variant,15.75,0.000181928,EXAC_SAS_AF,COL2A1
289011,12:48392003:A>C,NM_001844.4:c.310-19T>G,\N,\N,3/53,Unknown significance,\N,intron_variant,15.09,0.000116279,EVS_EA_AF,COL2A1
289012,12:48392004:C>A,NM_001844.4:c.310-20G>T,\N,\N,3/53,Unknown significance,\N,intron_variant,16.19,0.0000150101,EXAC_NFE_AF,COL2A1
289013,12:48392014:C>CCGAG,NM_001844.4:c.310-34_310-31dup,\N,\N,3/53,Unknown significance,\N,intron_variant,13.51,0.0000300336,EXAC_NFE_AF,COL2A1
289014,12:48392015:C>T,NM_001844.4:c.310-31G>A,\N,\N,3/53,Benign,\N,intron_variant,13.37,0.0136,1KG_AFR_AF,COL2A1
289015,12:48392016:G>A,NM_001844.4:c.310-32C>T,\N,\N,3/53,Unknown significance,\N,intron_variant,12.6,0.0000300363,EXAC_NFE_AF,COL2A1
289016,12:48392021:A>G,NM_001844.4:c.310-37T>C,\N,\N,3/53,Unknown significance,\N,intron_variant,12.1,0.0000866401,EXAC_AMR_AF,COL2A1
289017,12:48392027:C>T,NM_001844.4:c.310-43G>A,\N,\N,3/53,Unknown significance,\N,intron_variant,13.52,0.000226963,EVS_AA_AF,COL2A1
289018,12:48392028:T>G,NM_001844.4:c.310-44A>C,\N,\N,3/53,Unknown significance,\N,intron_variant,14.25,0.001,1KG_EUR_AF,COL2A1
289019,12:48392034:C>T,NM_001844.4:c.310-50G>A,\N,\N,3/53,Unknown significance,\N,intron_variant,13.3,0.000115875,EXAC_EAS_AF,COL2A1
289020,12:48392038:G>A,NM_001844.4:c.310-54C>T,\N,\N,3/53,Unknown significance,\N,intron_variant,9.738,\N,\N,COL2A1
289021,12:48392045:AC>A,NM_001844.4:c.310-62del,\N,\N,3/53,Unknown significance,\N,intron_variant,10.23,0.002,1KG_EUR_AF,COL2A1
289022,12:48392070:G>T,NM_001844.4:c.310-86C>A,\N,\N,3/53,Unknown significance,\N,intron_variant,2.998,0.0014,1KG_AMR_AF,COL2A1
289023,12:48392090:T>C,NM_001844.4:c.310-106A>G,\N,\N,3/53,Unknown significance,\N,intron_variant,3.038,\N,\N,COL2A1
289024,12:48392099:G>T,NM_001844.4:c.309+99C>A,\N,\N,3/53,Unknown significance,\N,intron_variant,5.28,\N,\N,COL2A1
289025,12:48392129:G>A,NM_001844.4:c.309+69C>T,\N,\N,3/53,Unknown significance,\N,intron_variant,8.926,0.001,1KG_SAS_AF,COL2A1
289026,12:48392143:G>A,NM_001844.4:c.309+55C>T,\N,\N,3/53,Unknown significance,\N,intron_variant,8.084,0.001,1KG_EAS_AF,COL2A1
289027,12:48392151:T>C,NM_001844.4:c.309+47A>G,\N,\N,3/53,Unknown significance,\N,intron_variant,4.776,0.0000906783,EXAC_AMR_AF,COL2A1
289028,12:48392154:A>G,NM_001844.4:c.309+44T>C,\N,\N,3/53,Unknown significance,\N,intron_variant,2.749,0.0000625469,EXAC_SAS_AF,COL2A1
289029,12:48392158:C>G,NM_001844.4:c.309+40G>C,\N,\N,3/53,Unknown significance,\N,intron_variant,3.135,0.0000159408,EXAC_NFE_AF,COL2A1
289030,12:48392159:C>CA,NM_001844.4:c.309+38dup,\N,\N,3/53,Unknown significance,\N,intron_variant,4.521,\N,\N,COL2A1
289031,12:48392159:CA>C,NM_001844.4:c.309+38del,\N,\N,3/53,Unknown significance,\N,intron_variant,5.997,\N,\N,COL2A1
289032,12:48392164:A>C,NM_001844.4:c.309+34T>G,\N,\N,3/53,Unknown significance,\N,intron_variant,0.323,0.001,1KG_SAS_AF,COL2A1
289033,12:48392165:A>C,NM_001844.4:c.309+33T>G,\N,\N,3/53,Unknown significance,\N,intron_variant,1.19,0.0000159195,EXAC_NFE_AF,COL2A1
289034,12:48392165:A>T,NM_001844.4:c.309+33T>A,\N,\N,3/53,Unknown significance,\N,intron_variant,1.69,0.0000159195,EXAC_NFE_AF,COL2A1
289035,12:48392166:AT>A,NM_001844.4:c.309+31del,\N,\N,3/53,Unknown significance,\N,intron_variant,0.413,0.0000159195,EXAC_NFE_AF,COL2A1
289036,12:48392167:T>C,NM_001844.4:c.309+31A>G,\N,\N,3/53,Unknown significance,\N,intron_variant,1.282,0.00127111,EXAC_AMR_AF,COL2A1
289037,12:48392169:T>C,NM_001844.4:c.309+29A>G,\N,\N,3/53,Unknown significance,\N,intron_variant,0.74,0.0017232,EXAC_AMR_AF,COL2A1
289038,12:48392170:GA>G,NM_001844.4:c.309+27del,\N,\N,3/53,Unknown significance,\N,intron_variant,0.073,\N,\N,COL2A1
289039,12:48392172:A>T,NM_001844.4:c.309+26T>A,\N,\N,3/53,Unknown significance,\N,intron_variant,1.459,0.00011636,EVS_EA_AF,COL2A1
289040,12:48392178:A>T,NM_001844.4:c.309+20T>A,\N,\N,3/53,Unknown significance,\N,intron_variant,0.116,0.000232612,EVS_EA_AF,COL2A1
289041,12:48392191:C>G,NM_001844.4:c.309+7G>C,\N,\N,3/53,Unknown significance,\N,splice_region_variant&intron_variant,1.377,0.0000905633,EXAC_AMR_AF,COL2A1
289042,12:48392192:C>T,NM_001844.4:c.309+6G>A,\N,\N,3/53,Unknown significance,\N,splice_region_variant&intron_variant,5.316,0.000153988,EXAC_FIN_AF,COL2A1
289043,12:48392193:C>G,NM_001844.4:c.309+5G>C,\N,\N,3/53,Unknown significance,\N,splice_region_variant&intron_variant,6.327,0.0000626096,EXAC_SAS_AF,COL2A1
289044,12:48392205:C>A,NM_033150.2:c.95G>T,NP_149162.2:p.Gly32Val,2/53,\N,Unknown significance,\N,missense_variant,17.2,0.001,1KG_EAS_AF,COL2A1
289045,12:48392208:G>A,NM_001844.4:c.299C>T,NP_001835.3:p.Pro100Leu,3/54,\N,Likely benign,\N,missense_variant,8.689,0.0000158263,EXAC_NFE_AF,COL2A1
289046,12:48392208:G>C,NM_001844.4:c.299C>G,NP_001835.3:p.Pro100Arg,3/54,\N,Likely benign,\N,missense_variant,1.24,0.0000158263,EXAC_NFE_AF,COL2A1
289047,12:48392215:C>G,NM_001844.4:c.293-1G>C,\N,\N,2/53,Unknown significance,\N,splice_acceptor_variant,18.74,\N,\N,COL2A1
289048,12:48392215:C>T,NM_001844.4:c.293-1G>A,\N,\N,2/53,Pathogenic,Stickler syndrome,splice_acceptor_variant,19.64,\N,\N,COL2A1
289049,12:48392221:G>A,NM_001844.4:c.293-7C>T,\N,\N,2/53,Unknown significance,\N,splice_region_variant&intron_variant,0.964,0.0000158806,EXAC_NFE_AF,COL2A1
289050,12:48392222:G>A,NM_001844.4:c.293-8C>T,\N,\N,2/53,Unknown significance,\N,splice_region_variant&intron_variant,4.252,0.0000158892,EXAC_NFE_AF,COL2A1
289051,12:48392222:G>C,NM_001844.4:c.293-8C>G,\N,\N,2/53,Unknown significance,\N,splice_region_variant&intron_variant,0.978,0.0000629564,EXAC_SAS_AF,COL2A1
289052,12:48392224:A>G,NM_001844.4:c.293-10T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,1.482,\N,\N,COL2A1
289053,12:48392231:A>G,NM_001844.4:c.293-17T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,1.818,0.000116306,EVS_EA_AF,COL2A1
289054,12:48392232:T>C,NM_001844.4:c.293-18A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,0.07,0.0000630756,EXAC_SAS_AF,COL2A1
289055,12:48392234:GAGA>G,NM_001844.4:c.293-23_293-21del,\N,\N,2/53,Unknown significance,\N,intron_variant,7.354,0.0000631313,EXAC_SAS_AF,COL2A1
289056,12:48392244:A>G,NM_001844.4:c.293-30T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,5.289,\N,\N,COL2A1
289057,12:48392279:T>G,NM_001844.4:c.293-65A>C,\N,\N,2/53,Benign,\N,intron_variant,6.547,0.0083,1KG_AFR_AF,COL2A1
289058,12:48392283:A>G,NM_001844.4:c.293-69T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,5.374,0.00408548,EVS_EA_AF,COL2A1
289059,12:48392293:T>C,NM_001844.4:c.293-79A>G,\N,\N,2/53,Benign,\N,intron_variant,8.325,0.0109,1KG_EAS_AF,COL2A1
289060,12:48392305:A>C,NM_001844.4:c.293-91T>G,\N,\N,2/53,Unknown significance,\N,intron_variant,4.89,\N,\N,COL2A1
289061,12:48392316:G>A,NM_001844.4:c.293-102C>T,\N,\N,2/53,Unknown significance,\N,intron_variant,4.916,0.001,1KG_SAS_AF,COL2A1
289062,12:48392338:G>C,NM_001844.4:c.293-124C>G,\N,\N,2/53,Unknown significance,\N,intron_variant,2.899,\N,\N,COL2A1
289063,12:48392342:C>T,NM_001844.4:c.293-128G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,7.255,0.0014,1KG_AMR_AF,COL2A1
289064,12:48392352:C>T,NM_001844.4:c.293-138G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,2.384,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL2A1
289065,12:48392364:C>T,NM_001844.4:c.293-150G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,9.129,\N,\N,COL2A1
289066,12:48392385:T>C,NM_001844.4:c.293-171A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,4.086,\N,\N,COL2A1
289067,12:48392397:G>A,NM_001844.4:c.293-183C>T,\N,\N,2/53,Benign,\N,intron_variant,10.59,0.1084,1KG_SAS_AF,COL2A1
289068,12:48392409:C>T,NM_001844.4:c.293-195G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,13.87,0.0008,1KG_AFR_AF,COL2A1
289069,12:48392433:A>G,NM_001844.4:c.293-219T>C,\N,\N,2/53,Benign,\N,intron_variant,15.59,0.6093,1KG_EUR_AF,COL2A1
289070,12:48392444:CA>C,NM_001844.4:c.293-231del,\N,\N,2/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289071,12:48392478:G>C,NM_001844.4:c.293-264C>G,\N,\N,2/53,Benign,\N,intron_variant,2.727,0.1084,1KG_SAS_AF,COL2A1
289072,12:48392479:G>A,NM_001844.4:c.293-265C>T,\N,\N,2/53,Unknown significance,\N,intron_variant,4.77,0.0023,1KG_AFR_AF,COL2A1
289073,12:48392494:C>T,NM_001844.4:c.293-280G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,1.819,\N,\N,COL2A1
289074,12:48392514:A>T,NM_001844.4:c.293-300T>A,\N,\N,2/53,Unknown significance,\N,intron_variant,4.485,0.001,1KG_EAS_AF,COL2A1
289075,12:48392552:T>C,NM_001844.4:c.293-338A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,1.653,0.0008,1KG_AFR_AF,COL2A1
289076,12:48392555:C>A,NM_001844.4:c.293-341G>T,\N,\N,2/53,Unknown significance,\N,intron_variant,8.493,0.0014,1KG_AMR_AF,COL2A1
289077,12:48392559:C>G,NM_001844.4:c.293-345G>C,\N,\N,2/53,Unknown significance,\N,intron_variant,10.75,0.001,1KG_SAS_AF,COL2A1
289078,12:48392559:C>T,NM_001844.4:c.293-345G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,11.64,\N,\N,COL2A1
289079,12:48392574:C>G,NM_001844.4:c.293-360G>C,\N,\N,2/53,Unknown significance,\N,intron_variant,8.574,\N,\N,COL2A1
289080,12:48392574:C>T,NM_001844.4:c.293-360G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,9.451,\N,\N,COL2A1
289081,12:48392575:G>A,NM_001844.4:c.293-361C>T,\N,\N,2/53,Unknown significance,\N,intron_variant,8.574,\N,\N,COL2A1
289082,12:48392580:C>T,NM_001844.4:c.293-366G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,7.103,0.002,1KG_SAS_AF,COL2A1
289083,12:48392581:G>A,NM_001844.4:c.293-367C>T,\N,\N,2/53,Unknown significance,\N,intron_variant,4.235,\N,\N,COL2A1
289084,12:48392631:A>G,NM_001844.4:c.293-417T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,20.6,0.001,1KG_EAS_AF,COL2A1
289085,12:48392665:A>G,NM_001844.4:c.293-451T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,4.268,0.001,1KG_SAS_AF,COL2A1
289086,12:48392672:C>T,NM_001844.4:c.293-458G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,4.821,0.002,1KG_EUR_AF,COL2A1
289087,12:48392707:C>T,NM_001844.4:c.293-493G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,0.635,0.0008,1KG_AFR_AF,COL2A1
289088,12:48392708:G>A,NM_001844.4:c.293-494C>T,\N,\N,2/53,Benign,\N,intron_variant,0.63,0.0053,1KG_AFR_AF,COL2A1
289089,12:48392714:T>A,NM_001844.4:c.293-500A>T,\N,\N,2/53,Unknown significance,\N,intron_variant,4.968,0.0041,1KG_SAS_AF,COL2A1
289090,12:48392717:T>C,NM_001844.4:c.293-503A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,1.308,\N,\N,COL2A1
289091,12:48392728:AT>A,NM_001844.4:c.293-515del,\N,\N,2/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289092,12:48392734:A>G,NM_001844.4:c.293-520T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,3.342,\N,\N,COL2A1
289093,12:48392749:C>T,NM_001844.4:c.293-535G>A,\N,\N,2/53,Benign,\N,intron_variant,5.41,0.059,1KG_AFR_AF,COL2A1
289094,12:48392761:A>G,NM_001844.4:c.293-547T>C,\N,\N,2/53,Benign,\N,intron_variant,15.51,0.0079,1KG_EAS_AF,COL2A1
289095,12:48392793:C>A,NM_001844.4:c.293-579G>T,\N,\N,2/53,Unknown significance,\N,intron_variant,9.191,\N,\N,COL2A1
289096,12:48392797:C>T,NM_001844.4:c.293-583G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,5.666,0.003,1KG_EAS_AF,COL2A1
289097,12:48392798:G>A,NM_001844.4:c.293-584C>T,\N,\N,2/53,Unknown significance,\N,intron_variant,4.836,\N,\N,COL2A1
289098,12:48392811:A>G,NM_001844.4:c.293-597T>C,\N,\N,2/53,Unknown significance,\N,intron_variant,3.876,\N,\N,COL2A1
289099,12:48392824:C>G,NM_001844.4:c.293-610G>C,\N,\N,2/53,Benign,\N,intron_variant,1.586,0.4384,1KG_EUR_AF,COL2A1
289100,12:48392826:G>C,NM_001844.4:c.293-612C>G,\N,\N,2/53,Unknown significance,\N,intron_variant,0.268,0.0008,1KG_AFR_AF,COL2A1
289101,12:48392849:T>C,NM_001844.4:c.293-635A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,17.81,0.0008,1KG_AFR_AF,COL2A1
289102,12:48392863:A>C,NM_001844.4:c.293-649T>G,\N,\N,2/53,Benign,\N,intron_variant,21.2,0.0058,1KG_AMR_AF,COL2A1
289103,12:48392914:C>G,NM_001844.4:c.293-700G>C,\N,\N,2/53,Benign,\N,intron_variant,1.056,0.8449,1KG_EUR_AF,COL2A1
289104,12:48392925:AG>A,NM_001844.4:c.293-712del,\N,\N,2/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289105,12:48392950:G>A,NM_001844.4:c.293-736C>T,\N,\N,2/53,Benign,\N,intron_variant,2.186,0.0802,1KG_AFR_AF,COL2A1
289106,12:48392982:C>T,NM_001844.4:c.292+720G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,3.028,\N,\N,COL2A1
289107,12:48392986:A>AT,NM_001844.4:c.292+715dup,\N,\N,2/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289108,12:48392986:A>T,NM_001844.4:c.292+716T>A,\N,\N,2/53,Unknown significance,\N,intron_variant,1.271,0.002,1KG_EAS_AF,COL2A1
289109,12:48392994:T>TG,NM_001844.4:c.292+707dup,\N,\N,2/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289110,12:48393023:C>T,NM_001844.4:c.292+679G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,4.486,\N,\N,COL2A1
289111,12:48393057:C>T,NM_001844.4:c.292+645G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,3.075,\N,\N,COL2A1
289112,12:48393071:C>A,NM_001844.4:c.292+631G>T,\N,\N,2/53,Unknown significance,\N,intron_variant,5.411,0.001,1KG_SAS_AF,COL2A1
289113,12:48393081:G>C,NM_001844.4:c.292+621C>G,\N,\N,2/53,Unknown significance,\N,intron_variant,0.566,\N,\N,COL2A1
289114,12:48393097:C>T,NM_001844.4:c.292+605G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,7.535,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL2A1
289115,12:48393098:G>A,NM_001844.4:c.292+604C>T,\N,\N,2/53,Benign,\N,intron_variant,4.6,0.3065,1KG_EAS_AF,COL2A1
289116,12:48393106:G>T,NM_001844.4:c.292+596C>A,\N,\N,2/53,Benign,\N,intron_variant,1.023,0.8429,1KG_EUR_AF,COL2A1
289117,12:48393107:A>G,NM_001844.4:c.292+595T>C,\N,\N,2/53,Benign,\N,intron_variant,2.93,0.005,1KG_EUR_AF,COL2A1
289118,12:48393135:T>C,NM_001844.4:c.292+567A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,3.248,0.0014,1KG_AMR_AF,COL2A1
289119,12:48393137:C>T,NM_001844.4:c.292+565G>A,\N,\N,2/53,Benign,\N,intron_variant,4.275,0.669,1KG_EUR_AF,COL2A1
289120,12:48393224:G>C,NM_001844.4:c.292+478C>G,\N,\N,2/53,Unknown significance,\N,intron_variant,1.051,0.0008,1KG_AFR_AF,COL2A1
289121,12:48393269:C>T,NM_001844.4:c.292+433G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,4.968,0.0014,1KG_AMR_AF,COL2A1
289122,12:48393277:T>C,NM_001844.4:c.292+425A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,5.802,0.002,1KG_SAS_AF,COL2A1
289123,12:48393320:G>A,NM_001844.4:c.292+382C>T,\N,\N,2/53,Benign,\N,intron_variant,4.251,0.674,1KG_EUR_AF,COL2A1
289124,12:48393346:G>C,NM_001844.4:c.292+356C>G,\N,\N,2/53,Unknown significance,\N,intron_variant,0.089,\N,\N,COL2A1
289125,12:48393351:T>C,NM_001844.4:c.292+351A>G,\N,\N,2/53,Benign,\N,intron_variant,3.141,0.0212,1KG_AFR_AF,COL2A1
289126,12:48393352:T>G,NM_001844.4:c.292+350A>C,\N,\N,2/53,Unknown significance,\N,intron_variant,6.826,0.0031,1KG_SAS_AF,COL2A1
289127,12:48393354:G>A,NM_001844.4:c.292+348C>T,\N,\N,2/53,Unknown significance,\N,intron_variant,5.992,0.001,1KG_EUR_AF,COL2A1
289128,12:48393355:CCAGA>C,NM_001844.4:c.292+343_292+346del,\N,\N,2/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289129,12:48393416:G>T,NM_001844.4:c.292+286C>A,\N,\N,2/53,Unknown significance,\N,intron_variant,1.477,\N,\N,COL2A1
289130,12:48393417:A>ATTTT,NM_001844.4:c.292+281_292+284dup,\N,\N,2/53,Unknown significance,\N,intron_variant,0.187,\N,\N,COL2A1
289131,12:48393417:A>ATTTTT,NM_001844.4:c.292+280_292+284dup,\N,\N,2/53,Unknown significance,\N,intron_variant,0.171,\N,\N,COL2A1
289132,12:48393417:A>ATTTTTT,NM_001844.4:c.292+279_292+284dup,\N,\N,2/53,Unknown significance,\N,intron_variant,0.156,\N,\N,COL2A1
289133,12:48393417:A>T,NM_001844.4:c.292+285T>A,\N,\N,2/53,Unknown significance,\N,intron_variant,0.544,\N,\N,COL2A1
289134,12:48393417:AT>A,NM_001844.4:c.292+284del,\N,\N,2/53,Unknown significance,\N,intron_variant,1.146,\N,\N,COL2A1
289135,12:48393417:ATTT>A,NM_001844.4:c.292+282_292+284del,\N,\N,2/53,Unknown significance,\N,intron_variant,0.363,\N,\N,COL2A1
289136,12:48393436:TG>T,NM_001844.4:c.292+265del,\N,\N,2/53,Unknown significance,\N,intron_variant,6.823,\N,\N,COL2A1
289137,12:48393438:T>G,NM_001844.4:c.292+264A>C,\N,\N,2/53,Unknown significance,\N,intron_variant,9.409,\N,\N,COL2A1
289138,12:48393443:TC>T,NM_001844.4:c.292+258del,\N,\N,2/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289139,12:48393444:C>T,NM_001844.4:c.292+258G>A,\N,\N,2/53,Benign,\N,intron_variant,7.678,0.6769,1KG_EUR_AF,COL2A1
289140,12:48393526:G>A,NM_001844.4:c.292+176C>T,\N,\N,2/53,Benign,\N,intron_variant,0.145,0.6769,1KG_EUR_AF,COL2A1
289141,12:48393544:T>C,NM_001844.4:c.292+158A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,11.55,0.0008,1KG_AFR_AF,COL2A1
289142,12:48393557:T>C,NM_001844.4:c.292+145A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,8.614,\N,\N,COL2A1
289143,12:48393568:T>C,NM_001844.4:c.292+134A>G,\N,\N,2/53,Unknown significance,\N,intron_variant,12.65,0.001,1KG_EUR_AF,COL2A1
289144,12:48393609:T>A,NM_001844.4:c.292+93A>T,\N,\N,2/53,Unknown significance,\N,intron_variant,16,\N,\N,COL2A1
289145,12:48393622:C>T,NM_001844.4:c.292+80G>A,\N,\N,2/53,Unknown significance,\N,intron_variant,10.32,\N,\N,COL2A1
289146,12:48393642:G>A,NM_001844.4:c.292+60C>T,\N,\N,2/53,Unknown significance,\N,intron_variant,6.098,0.002,1KG_EAS_AF,COL2A1
289147,12:48393662:TA>T,NM_001844.4:c.292+39del,\N,\N,2/53,Unknown significance,\N,intron_variant,22,0.0000153191,EXAC_NFE_AF,COL2A1
289148,12:48393714:C>T,NM_001844.4:c.280G>A,NP_001835.3:p.Ala94Thr,2/54,\N,Likely benign,\N,missense_variant,19.76,0.000115929,EXAC_EAS_AF,COL2A1
289149,12:48393715:G>A,NM_001844.4:c.279C>T,NP_001835.3:p.Leu93=,2/54,\N,Unknown significance,\N,synonymous_variant,13.81,0.000115929,EXAC_EAS_AF,COL2A1
289150,12:48393718:G>A,NM_001844.4:c.276C>T,NP_001835.3:p.Asp92=,2/54,\N,Unknown significance,\N,synonymous_variant,11.08,0.0000300165,EXAC_NFE_AF,COL2A1
289151,12:48393723:TTGGGCAG>T,NM_001844.4:c.264_270del,NP_001835.3:p.Cys89LeufsTer26,2/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
289152,12:48393724:T>C,NM_001844.4:c.270A>G,NP_001835.3:p.Pro90=,2/54,\N,Unknown significance,\N,synonymous_variant,6.661,0.000115929,EXAC_EAS_AF,COL2A1
289153,12:48393725:G>A,NM_001844.4:c.269C>T,NP_001835.3:p.Pro90Leu,2/54,\N,Unknown significance,\N,missense_variant,23.3,0.000181686,EXAC_SAS_AF,COL2A1
289154,12:48393732:T>A,NM_001844.4:c.262A>T,NP_001835.3:p.Ile88Phe,2/54,\N,Unknown significance,\N,missense_variant,23.6,0.000102062,EXAC_AFR_AF,COL2A1
289155,12:48393732:T>C,NM_001844.4:c.262A>G,NP_001835.3:p.Ile88Val,2/54,\N,Unknown significance,\N,missense_variant,4.013,0.0000300075,EXAC_NFE_AF,COL2A1
289156,12:48393736:G>T,NM_001844.4:c.258C>A,NP_001835.3:p.Cys86Ter,2/54,\N,Pathogenic,Stickler syndrome,stop_gained,35,\N,\N,COL2A1
289157,12:48393742:C>T,NM_001844.4:c.252G>A,NP_001835.3:p.Glu84=,2/54,\N,Unknown significance,\N,synonymous_variant,14.09,0.000060562,EXAC_SAS_AF,COL2A1
289158,12:48393747:C>T,NM_001844.4:c.247G>A,NP_001835.3:p.Gly83Arg,2/54,\N,Unknown significance,\N,missense_variant,26.3,0.000115929,EXAC_EAS_AF,COL2A1
289159,12:48393748:G>A,NM_001844.4:c.246C>T,NP_001835.3:p.Phe82=,2/54,\N,Unknown significance,\N,synonymous_variant,14.02,0.002,1KG_SAS_AF,COL2A1
289160,12:48393754:G>T,NM_001844.4:c.240C>A,NP_001835.3:p.Ile80=,2/54,\N,Unknown significance,\N,synonymous_variant,10.71,0.0000150002,EXAC_NFE_AF,COL2A1
289161,12:48393756:TC>T,NM_001844.4:c.237del,NP_001835.3:p.Ile80SerfsTer37,2/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,27.9,\N,\N,COL2A1
289162,12:48393757:C>G,NM_001844.4:c.237G>C,NP_001835.3:p.Glu79Asp,2/54,\N,Unknown significance,\N,missense_variant,19,0.000347786,EXAC_EAS_AF,COL2A1
289163,12:48393771:A>T,NM_001844.4:c.223T>A,NP_001835.3:p.Cys75Ser,2/54,\N,Unknown significance,\N,missense_variant,23.1,0.0000150033,EXAC_NFE_AF,COL2A1
289164,12:48393772:G>A,NM_001844.4:c.222C>T,NP_001835.3:p.Asp74=,2/54,\N,Unknown significance,\N,synonymous_variant,6.964,0.001,1KG_EAS_AF,COL2A1
289165,12:48393773:T>C,NM_001844.4:c.221A>G,NP_001835.3:p.Asp74Gly,2/54,\N,Unknown significance,\N,missense_variant,21.5,0.0000150047,EXAC_NFE_AF,COL2A1
289166,12:48393780:C>T,NM_001844.4:c.214G>A,NP_001835.3:p.Val72Met,2/54,\N,Likely benign,\N,missense_variant,10.91,0.000102208,EXAC_AFR_AF,COL2A1
289167,12:48393781:G>A,NM_001844.4:c.213C>T,NP_001835.3:p.Asp71=,2/54,\N,Benign,\N,synonymous_variant,10.76,0.0143635,EXAC_FIN_AF,COL2A1
289168,12:48393789:A>G,NM_001844.4:c.205T>C,NP_001835.3:p.Cys69Arg,2/54,\N,Unknown significance,\N,missense_variant,23.4,0.0000864902,EXAC_AMR_AF,COL2A1
289169,12:48393799:G>A,NM_001844.4:c.195C>T,NP_001835.3:p.Asp65=,2/54,\N,Unknown significance,\N,synonymous_variant,11.24,0.000943174,EVS_EA_AF,COL2A1
289170,12:48393802:G>T,NM_001844.4:c.192C>A,NP_001835.3:p.Cys64Ter,2/54,\N,Pathogenic,Stickler syndrome,stop_gained,36,\N,\N,COL2A1
289171,12:48393802:G>A,NM_001844.4:c.192C>T,NP_001835.3:p.Cys64=,2/54,\N,Unknown significance,\N,synonymous_variant,12.56,0.0008,1KG_AFR_AF,COL2A1
289172,12:48393810:C>G,NM_001844.4:c.184G>C,NP_001835.3:p.Val62Leu,2/54,\N,Unknown significance,\N,missense_variant,24,0.0000606208,EXAC_SAS_AF,COL2A1
289173,12:48393811:A>G,NM_001844.4:c.183T>C,NP_001835.3:p.Thr61=,2/54,\N,Unknown significance,\N,synonymous_variant,1.119,0.0000150313,EXAC_NFE_AF,COL2A1
289174,12:48393816:C>T,NM_001844.4:c.178G>A,NP_001835.3:p.Gly60Arg,2/54,\N,Unknown significance,\N,missense_variant,25.1,0.0000150362,EXAC_NFE_AF,COL2A1
289175,12:48393819:T>C,NM_001844.4:c.175A>G,NP_001835.3:p.Thr59Ala,2/54,\N,Unknown significance,\N,missense_variant,15.26,0.000308578,EXAC_AFR_AF,COL2A1
289176,12:48393821:TCA>T,NM_001844.4:c.171_172del,NP_001835.3:p.Cys57Ter,2/54,\N,Pathogenic,Wagner's vitreoretinal degeneration,stop_gained&frameshift_variant,33,\N,\N,COL2A1
289177,12:48393824:C>T,NM_001844.4:c.170G>A,NP_001835.3:p.Cys57Tyr,2/54,\N,Pathogenic,Stickler syndrome,missense_variant,24.6,\N,\N,COL2A1
289178,12:48393826:GAC>G,NM_001844.4:c.166_167del,NP_001835.3:p.Val56LeufsTer2,2/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,32,\N,\N,COL2A1
289179,12:48393832:G>GATCC,NM_001844.4:c.158_161dup,NP_001835.3:p.Ile54MetfsTer6,2/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,32,\N,\N,COL2A1
289180,12:48393836:C>T,NM_001844.4:c.158G>A,NP_001835.3:p.Arg53Gln,2/54,\N,Unknown significance,\N,missense_variant,20.7,0.000310302,EXAC_AFR_AF,COL2A1
289181,12:48393837:G>A,NM_001844.4:c.157C>T,NP_001835.3:p.Arg53Trp,2/54,\N,Unknown significance,\N,missense_variant,27.1,0.0000452612,EXAC_NFE_AF,COL2A1
289182,12:48393837:G>C,NM_001844.4:c.157C>G,NP_001835.3:p.Arg53Gly,2/54,\N,Unknown significance,\N,missense_variant,23.4,0.0000301741,EXAC_NFE_AF,COL2A1
289183,12:48393847:C>T,NM_001844.4:c.147G>A,NP_001835.3:p.Pro49=,2/54,\N,Unknown significance,\N,synonymous_variant,16.67,0.004,1KG_EAS_AF,COL2A1
289184,12:48393847:CG>C,NM_001844.4:c.146del,NP_001835.3:p.Pro49ArgfsTer19,2/54,\N,Pathogenic,Stickler syndrome,frameshift_variant,35,\N,\N,COL2A1
289185,12:48393848:G>A,NM_001844.4:c.146C>T,NP_001835.3:p.Pro49Leu,2/54,\N,Unknown significance,\N,missense_variant,25.5,0.0000454435,EXAC_NFE_AF,COL2A1
289186,12:48393853:C>T,NM_001844.4:c.141G>A,NP_001835.3:p.Trp47Ter,2/54,\N,Pathogenic,Stickler syndrome,stop_gained,36,\N,\N,COL2A1
289187,12:48393856:C>T,NM_001844.4:c.138G>A,NP_001835.3:p.Val46=,2/54,\N,Unknown significance,\N,synonymous_variant,13.88,0.000104581,EXAC_AFR_AF,COL2A1
289188,12:48393859:A>G,NM_001844.4:c.135T>C,NP_001835.3:p.Asp45=,2/54,\N,Unknown significance,\N,synonymous_variant,2.076,0.00126024,EXAC_AFR_AF,COL2A1
289189,12:48393859:A>T,NM_001844.4:c.135T>A,NP_001835.3:p.Asp45Glu,2/54,\N,Unknown significance,\N,missense_variant,18.98,0.0000152286,EXAC_NFE_AF,COL2A1
289190,12:48393861:C>A,NM_001844.4:c.133G>T,NP_001835.3:p.Asp45Tyr,2/54,\N,Unknown significance,\N,missense_variant,25.3,\N,\N,COL2A1
289191,12:48393871:A>T,NM_001844.4:c.123T>A,NP_001835.3:p.Tyr41Ter,2/54,\N,Pathogenic,Stickler syndrome,stop_gained,36,\N,\N,COL2A1
289192,12:48393880:C>T,NM_001844.4:c.114G>A,NP_001835.3:p.Gly38=,2/54,\N,Unknown significance,\N,synonymous_variant,13.9,0.0000156976,EXAC_NFE_AF,COL2A1
289193,12:48393882:C>T,NM_001844.4:c.112G>A,NP_001835.3:p.Gly38Arg,2/54,\N,Unknown significance,\N,missense_variant,24.3,0.000183419,EXAC_AMR_AF,COL2A1
289194,12:48393883:A>G,NM_001844.4:c.111T>C,NP_001835.3:p.Asp37=,2/54,\N,Unknown significance,\N,synonymous_variant,3.004,0.000163559,EXAC_FIN_AF,COL2A1
289195,12:48393889:C>G,NM_001844.4:c.105G>C,NP_001835.3:p.Val35=,2/54,\N,Unknown significance,\N,synonymous_variant,10.7,0.000118991,EVS_EA_AF,COL2A1
289196,12:48393898:G>A,NM_001844.4:c.96C>T,NP_001835.3:p.Gly32=,2/54,\N,Unknown significance,\N,synonymous_variant,9.643,0.0000167892,EXAC_NFE_AF,COL2A1
289197,12:48393900:C>T,NM_001844.4:c.94G>A,NP_001835.3:p.Gly32Ser,2/54,\N,Unknown significance,\N,missense_variant,20.4,0.000100766,EXAC_AMR_AF,COL2A1
289198,12:48393913:A>T,NM_001844.4:c.86-5T>A,\N,\N,1/53,Unknown significance,\N,splice_region_variant&intron_variant,12.4,0.000036503,EXAC_NFE_AF,COL2A1
289199,12:48393917:A>G,NM_001844.4:c.86-9T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,18.73,0.0000702445,EXAC_SAS_AF,COL2A1
289200,12:48393920:G>A,NM_001844.4:c.86-12C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,18.17,\N,\N,COL2A1
289201,12:48393922:G>T,NM_001844.4:c.86-14C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,15.25,\N,\N,COL2A1
289202,12:48393925:G>A,NM_001844.4:c.86-17C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,12.83,0.0000717875,EXAC_SAS_AF,COL2A1
289203,12:48393926:A>T,NM_001844.4:c.86-18T>A,\N,\N,1/53,Unknown significance,\N,intron_variant,13.51,0.0000200666,EXAC_NFE_AF,COL2A1
289204,12:48393927:G>A,NM_001844.4:c.86-19C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,14.52,0.0000725374,EXAC_SAS_AF,COL2A1
289205,12:48393928:G>C,NM_001844.4:c.86-20C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,13.18,\N,\N,COL2A1
289206,12:48393939:G>A,NM_001844.4:c.86-31C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,19.57,\N,\N,COL2A1
289207,12:48393942:C>T,NM_001844.4:c.86-34G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,17.73,0.000120948,EVS_EA_AF,COL2A1
289208,12:48393954:G>C,NM_001844.4:c.86-46C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,11.34,0.00393082,EXAC_AFR_AF,COL2A1
289209,12:48393955:G>C,NM_001844.4:c.86-47C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,9.629,0.00101937,EXAC_EAS_AF,COL2A1
289210,12:48393955:G>T,NM_001844.4:c.86-47C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,10.26,0.000242131,EVS_EA_AF,COL2A1
289211,12:48393958:G>A,NM_001844.4:c.86-50C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,11.7,0.003,1KG_EUR_AF,COL2A1
289212,12:48393958:G>T,NM_001844.4:c.86-50C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,10.46,0.0019685,EXAC_OTH_AF,COL2A1
289213,12:48393960:G>A,NM_001844.4:c.86-52C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,10.21,0.0000313205,EXAC_NFE_AF,COL2A1
289214,12:48393963:G>A,NM_001844.4:c.86-55C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,10.9,0.002,1KG_SAS_AF,COL2A1
289215,12:48393966:C>T,NM_001844.4:c.86-58G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,14.11,0.001,1KG_EAS_AF,COL2A1
289216,12:48394030:T>C,NM_001844.4:c.86-122A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,3.189,\N,\N,COL2A1
289217,12:48394091:A>T,NM_001844.4:c.86-183T>A,\N,\N,1/53,Unknown significance,\N,intron_variant,6.085,0.0014,1KG_AMR_AF,COL2A1
289218,12:48394142:CA>C,NM_001844.4:c.86-235del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289219,12:48394164:A>G,NM_001844.4:c.86-256T>C,\N,\N,1/53,Benign,\N,intron_variant,2.08,0.0129,1KG_EAS_AF,COL2A1
289220,12:48394179:T>C,NM_001844.4:c.86-271A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,2.07,\N,\N,COL2A1
289221,12:48394211:C>T,NM_001844.4:c.86-303G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,0.142,\N,\N,COL2A1
289222,12:48394218:G>C,NM_001844.4:c.86-310C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,0.274,\N,\N,COL2A1
289223,12:48394232:G>A,NM_001844.4:c.86-324C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,2.111,0.0041,1KG_SAS_AF,COL2A1
289224,12:48394235:G>A,NM_001844.4:c.86-327C>T,\N,\N,1/53,Benign,\N,intron_variant,2.682,0.0218,1KG_EAS_AF,COL2A1
289225,12:48394259:G>A,NM_001844.4:c.86-351C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,1.326,0.001,1KG_EAS_AF,COL2A1
289226,12:48394288:G>C,NM_001844.4:c.86-380C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,0.618,\N,\N,COL2A1
289227,12:48394304:A>G,NM_001844.4:c.86-396T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,3.121,0.0008,1KG_AFR_AF,COL2A1
289228,12:48394316:G>A,NM_001844.4:c.86-408C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,4.426,0.001,1KG_EAS_AF,COL2A1
289229,12:48394318:C>A,NM_001844.4:c.86-410G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,3.433,\N,\N,COL2A1
289230,12:48394327:G>A,NM_001844.4:c.86-419C>T,\N,\N,1/53,Benign,\N,intron_variant,5.231,0.0051,1KG_SAS_AF,COL2A1
289231,12:48394352:A>G,NM_001844.4:c.86-444T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,8.528,\N,\N,COL2A1
289232,12:48394410:T>C,NM_001844.4:c.86-502A>G,\N,\N,1/53,Benign,\N,intron_variant,8.372,0.0109,1KG_EUR_AF,COL2A1
289233,12:48394419:C>T,NM_001844.4:c.86-511G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,11.24,\N,\N,COL2A1
289234,12:48394452:A>C,NM_001844.4:c.86-544T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,20.6,\N,\N,COL2A1
289235,12:48394480:T>G,NM_001844.4:c.86-572A>C,\N,\N,1/53,Unknown significance,\N,intron_variant,3.978,\N,\N,COL2A1
289236,12:48394513:G>C,NM_001844.4:c.86-605C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,1.275,\N,\N,COL2A1
289237,12:48394521:G>A,NM_001844.4:c.86-613C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,2.634,\N,\N,COL2A1
289238,12:48394552:T>C,NM_001844.4:c.86-644A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,7.304,0.003,1KG_AFR_AF,COL2A1
289239,12:48394578:C>T,NM_001844.4:c.86-670G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,4.953,\N,\N,COL2A1
289240,12:48394757:T>A,NM_001844.4:c.86-849A>T,\N,\N,1/53,Unknown significance,\N,intron_variant,3.89,0.0014,1KG_AMR_AF,COL2A1
289241,12:48394799:C>T,NM_001844.4:c.86-891G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,11.59,\N,\N,COL2A1
289242,12:48394813:G>A,NM_001844.4:c.86-905C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,10.91,0.0008,1KG_AFR_AF,COL2A1
289243,12:48394823:G>T,NM_001844.4:c.86-915C>A,\N,\N,1/53,Benign,\N,intron_variant,12.33,0.5477,1KG_AFR_AF,COL2A1
289244,12:48394835:G>A,NM_001844.4:c.86-927C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,15.11,0.003,1KG_AFR_AF,COL2A1
289245,12:48394858:C>T,NM_001844.4:c.86-950G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,19.67,0.0008,1KG_AFR_AF,COL2A1
289246,12:48394909:T>C,NM_001844.4:c.86-1001A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,3.376,\N,\N,COL2A1
289247,12:48394933:GC>G,NM_001844.4:c.86-1026del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289248,12:48394946:G>C,NM_001844.4:c.86-1038C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,22.5,\N,\N,COL2A1
289249,12:48394962:C>A,NM_001844.4:c.86-1054G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,20.9,\N,\N,COL2A1
289250,12:48394963:G>A,NM_001844.4:c.86-1055C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,18.88,0.0014,1KG_AMR_AF,COL2A1
289251,12:48394963:GC>G,NM_001844.4:c.86-1056del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289252,12:48395004:A>AG,NM_001844.4:c.86-1097dup,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289253,12:48395016:A>G,NM_001844.4:c.86-1108T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,17.28,0.001,1KG_EAS_AF,COL2A1
289254,12:48395039:AG>A,NM_001844.4:c.86-1132del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289255,12:48395042:G>C,NM_001844.4:c.86-1134C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,8.476,\N,\N,COL2A1
289256,12:48395043:C>CG,NM_001844.4:c.86-1136dup,\N,\N,1/53,Benign,\N,intron_variant,11.66,0.8459,1KG_EUR_AF,COL2A1
289257,12:48395086:A>C,NM_001844.4:c.86-1178T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,9.894,0.001,1KG_EUR_AF,COL2A1
289258,12:48395096:A>G,NM_001844.4:c.86-1188T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,11.17,0.0008,1KG_AFR_AF,COL2A1
289259,12:48395102:T>G,NM_001844.4:c.86-1194A>C,\N,\N,1/53,Benign,\N,intron_variant,8.221,0.8459,1KG_EUR_AF,COL2A1
289260,12:48395160:A>T,NM_001844.4:c.86-1252T>A,\N,\N,1/53,Unknown significance,\N,intron_variant,2.387,0.001,1KG_EUR_AF,COL2A1
289261,12:48395210:G>A,NM_001844.4:c.86-1302C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,10.65,0.001,1KG_EAS_AF,COL2A1
289262,12:48395282:G>A,NM_001844.4:c.86-1374C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,8.67,\N,\N,COL2A1
289263,12:48395285:C>A,NM_001844.4:c.86-1377G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,9.509,\N,\N,COL2A1
289264,12:48395290:C>G,NM_001844.4:c.86-1382G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,8.953,0.001,1KG_EUR_AF,COL2A1
289265,12:48395296:T>C,NM_001844.4:c.86-1388A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,8.088,0.0023,1KG_AFR_AF,COL2A1
289266,12:48395313:T>G,NM_001844.4:c.86-1405A>C,\N,\N,1/53,Unknown significance,\N,intron_variant,3.194,\N,\N,COL2A1
289267,12:48395319:A>T,NM_001844.4:c.86-1411T>A,\N,\N,1/53,Unknown significance,\N,intron_variant,7.45,\N,\N,COL2A1
289268,12:48395340:G>C,NM_001844.4:c.86-1432C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,6.556,0.002,1KG_EAS_AF,COL2A1
289269,12:48395361:C>T,NM_001844.4:c.86-1453G>A,\N,\N,1/53,Benign,\N,intron_variant,9.435,0.0417,1KG_EUR_AF,COL2A1
289270,12:48395366:C>G,NM_001844.4:c.86-1458G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,9.521,\N,\N,COL2A1
289271,12:48395368:C>A,NM_001844.4:c.86-1460G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,9.984,\N,\N,COL2A1
289272,12:48395373:C>A,NM_001844.4:c.86-1465G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,14.63,0.002,1KG_EAS_AF,COL2A1
289273,12:48395387:C>G,NM_001844.4:c.86-1479G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,14.35,0.001,1KG_SAS_AF,COL2A1
289274,12:48395408:G>C,NM_001844.4:c.86-1500C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,12.97,0.004,1KG_EUR_AF,COL2A1
289275,12:48395412:CG>C,NM_001844.4:c.86-1505del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289276,12:48395418:A>T,NM_001844.4:c.86-1510T>A,\N,\N,1/53,Unknown significance,\N,intron_variant,14.42,0.001,1KG_EUR_AF,COL2A1
289277,12:48395439:T>C,NM_001844.4:c.86-1531A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,13.81,0.001,1KG_EAS_AF,COL2A1
289278,12:48395485:C>T,NM_001844.4:c.86-1577G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,13.37,0.001,1KG_EUR_AF,COL2A1
289279,12:48395488:C>T,NM_001844.4:c.86-1580G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,11.76,0.0014,1KG_AMR_AF,COL2A1
289280,12:48395539:G>GT,NM_001844.4:c.86-1632_86-1631insA,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289281,12:48395579:C>G,NM_001844.4:c.86-1671G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,20.2,0.0014,1KG_AMR_AF,COL2A1
289282,12:48395580:G>A,NM_001844.4:c.86-1672C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,17.99,0.001,1KG_SAS_AF,COL2A1
289283,12:48395625:G>C,NM_001844.4:c.86-1717C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,18.16,0.0008,1KG_AFR_AF,COL2A1
289284,12:48395701:A>G,NM_001844.4:c.86-1793T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,22.7,0.0008,1KG_AFR_AF,COL2A1
289285,12:48395714:C>A,NM_001844.4:c.86-1806G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,20.5,\N,\N,COL2A1
289286,12:48395752:G>T,NM_001844.4:c.86-1844C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,16.95,0.002,1KG_EAS_AF,COL2A1
289287,12:48395822:A>C,NM_001844.4:c.86-1914T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,6.506,\N,\N,COL2A1
289288,12:48395871:G>A,NM_001844.4:c.86-1963C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,18.62,0.0023,1KG_AFR_AF,COL2A1
289289,12:48395900:C>T,NM_001844.4:c.86-1992G>A,\N,\N,1/53,Benign,\N,intron_variant,20.7,0.828,1KG_EUR_AF,COL2A1
289290,12:48395906:G>A,NM_001844.4:c.86-1998C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,18.59,0.001,1KG_SAS_AF,COL2A1
289291,12:48395910:C>T,NM_001844.4:c.86-2002G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,19.65,0.001,1KG_SAS_AF,COL2A1
289292,12:48395919:T>C,NM_001844.4:c.86-2011A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,18.36,0.001,1KG_SAS_AF,COL2A1
289293,12:48395926:G>A,NM_001844.4:c.86-2018C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,20.7,0.0008,1KG_AFR_AF,COL2A1
289294,12:48395929:C>T,NM_001844.4:c.86-2021G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,20.6,0.0015,1KG_AFR_AF,COL2A1
289295,12:48395932:C>G,NM_001844.4:c.86-2024G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,19.95,\N,\N,COL2A1
289296,12:48395946:C>T,NM_001844.4:c.86-2038G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,20.4,\N,\N,COL2A1
289297,12:48395960:T>C,NM_001844.4:c.86-2052A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,18.4,0.001,1KG_EUR_AF,COL2A1
289298,12:48395988:A>T,NM_001844.4:c.85+2032T>A,\N,\N,1/53,Unknown significance,\N,intron_variant,17.29,0.001,1KG_EAS_AF,COL2A1
289299,12:48395999:T>C,NM_001844.4:c.85+2021A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,17.39,\N,\N,COL2A1
289300,12:48396006:C>A,NM_001844.4:c.85+2014G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,20.9,\N,\N,COL2A1
289301,12:48396009:T>G,NM_001844.4:c.85+2011A>C,\N,\N,1/53,Benign,\N,intron_variant,17.44,0.1135,1KG_SAS_AF,COL2A1
289302,12:48396015:G>C,NM_001844.4:c.85+2005C>G,\N,\N,1/53,Benign,\N,intron_variant,13.8,0.0227,1KG_AFR_AF,COL2A1
289303,12:48396038:G>A,NM_001844.4:c.85+1982C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,15.15,0.001,1KG_EUR_AF,COL2A1
289304,12:48396038:G>C,NM_001844.4:c.85+1982C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,13.56,\N,\N,COL2A1
289305,12:48396058:G>A,NM_001844.4:c.85+1962C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,19.63,\N,\N,COL2A1
289306,12:48396060:G>A,NM_001844.4:c.85+1960C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,18.19,0.0015,1KG_AFR_AF,COL2A1
289307,12:48396071:G>T,NM_001844.4:c.85+1949C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,15.71,\N,\N,COL2A1
289308,12:48396127:G>A,NM_001844.4:c.85+1893C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,17.16,\N,\N,COL2A1
289309,12:48396145:A>C,NM_001844.4:c.85+1875T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,13.86,0.0008,1KG_AFR_AF,COL2A1
289310,12:48396180:C>T,NM_001844.4:c.85+1840G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,20.4,0.0023,1KG_AFR_AF,COL2A1
289311,12:48396210:C>T,NM_001844.4:c.85+1810G>A,\N,\N,1/53,Benign,\N,intron_variant,11.56,0.3472,1KG_AFR_AF,COL2A1
289312,12:48396332:C>T,NM_001844.4:c.85+1688G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,9.246,\N,\N,COL2A1
289313,12:48396364:G>C,NM_001844.4:c.85+1656C>G,\N,\N,1/53,Benign,\N,intron_variant,5.132,0.545,1KG_SAS_AF,COL2A1
289314,12:48396378:T>A,NM_001844.4:c.85+1642A>T,\N,\N,1/53,Unknown significance,\N,intron_variant,11.59,0.001,1KG_SAS_AF,COL2A1
289315,12:48396380:A>C,NM_001844.4:c.85+1640T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,8.278,\N,\N,COL2A1
289316,12:48396445:A>C,NM_001844.4:c.85+1575T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,10.4,\N,\N,COL2A1
289317,12:48396446:T>C,NM_001844.4:c.85+1574A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,9.232,0.001,1KG_EAS_AF,COL2A1
289318,12:48396450:G>T,NM_001844.4:c.85+1570C>A,\N,\N,1/53,Benign,\N,intron_variant,6.115,0.8449,1KG_EUR_AF,COL2A1
289319,12:48396455:A>G,NM_001844.4:c.85+1565T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,9.317,\N,\N,COL2A1
289320,12:48396457:G>A,NM_001844.4:c.85+1563C>T,\N,\N,1/53,Benign,\N,intron_variant,8.007,0.0051,1KG_SAS_AF,COL2A1
289321,12:48396490:C>T,NM_001844.4:c.85+1530G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,9.533,0.0014,1KG_AMR_AF,COL2A1
289322,12:48396505:G>T,NM_001844.4:c.85+1515C>A,\N,\N,1/53,Benign,\N,intron_variant,6.495,0.8449,1KG_EUR_AF,COL2A1
289323,12:48396557:A>C,NM_001844.4:c.85+1463T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,6.921,\N,\N,COL2A1
289324,12:48396562:T>A,NM_001844.4:c.85+1458A>T,\N,\N,1/53,Unknown significance,\N,intron_variant,7.19,0.002,1KG_EAS_AF,COL2A1
289325,12:48396587:G>A,NM_001844.4:c.85+1433C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,7.253,\N,\N,COL2A1
289326,12:48396593:C>A,NM_001844.4:c.85+1427G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,11.67,0.001,1KG_SAS_AF,COL2A1
289327,12:48396610:C>G,NM_001844.4:c.85+1410G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,9.426,0.001,1KG_SAS_AF,COL2A1
289328,12:48396629:C>T,NM_001844.4:c.85+1391G>A,\N,\N,1/53,Benign,\N,intron_variant,10.21,0.0545,1KG_AFR_AF,COL2A1
289329,12:48396642:G>A,NM_001844.4:c.85+1378C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,9.92,\N,\N,COL2A1
289330,12:48396643:C>G,NM_001844.4:c.85+1377G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,9.055,0.0029,1KG_AMR_AF,COL2A1
289331,12:48396648:C>T,NM_001844.4:c.85+1372G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,10.32,\N,\N,COL2A1
289332,12:48396650:G>A,NM_001844.4:c.85+1370C>T,\N,\N,1/53,Benign,\N,intron_variant,8.616,0.0166,1KG_AFR_AF,COL2A1
289333,12:48396764:C>G,NM_001844.4:c.85+1256G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,11.88,\N,\N,COL2A1
289334,12:48396785:C>T,NM_001844.4:c.85+1235G>A,\N,\N,1/53,Benign,\N,intron_variant,10.79,0.8449,1KG_EUR_AF,COL2A1
289335,12:48396790:C>G,NM_001844.4:c.85+1230G>C,\N,\N,1/53,Unknown significance,\N,intron_variant,7.206,0.001,1KG_EAS_AF,COL2A1
289336,12:48396805:C>T,NM_001844.4:c.85+1215G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,11.92,\N,\N,COL2A1
289337,12:48396813:T>C,NM_001844.4:c.85+1207A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,17.61,\N,\N,COL2A1
289338,12:48396833:T>C,NM_001844.4:c.85+1187A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,18.47,0.0014,1KG_AMR_AF,COL2A1
289339,12:48396835:C>T,NM_001844.4:c.85+1185G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,20.4,0.001,1KG_SAS_AF,COL2A1
289340,12:48396884:G>GA,NM_001844.4:c.85+1135dup,\N,\N,1/53,Benign,\N,intron_variant,22.5,0.0098,1KG_AFR_AF,COL2A1
289341,12:48396898:C>G,NM_001844.4:c.85+1122G>C,\N,\N,1/53,Benign,\N,intron_variant,20,0.0297,1KG_SAS_AF,COL2A1
289342,12:48396920:G>T,NM_001844.4:c.85+1100C>A,\N,\N,1/53,Benign,\N,intron_variant,22.9,0.2907,1KG_EAS_AF,COL2A1
289343,12:48396939:T>C,NM_001844.4:c.85+1081A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,22.8,\N,\N,COL2A1
289344,12:48396971:G>T,NM_001844.4:c.85+1049C>A,\N,\N,1/53,Benign,\N,intron_variant,18.49,0.005,1KG_EUR_AF,COL2A1
289345,12:48397029:A>C,NM_001844.4:c.85+991T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,1.278,0.0008,1KG_AFR_AF,COL2A1
289346,12:48397046:T>A,NM_001844.4:c.85+974A>T,\N,\N,1/53,Benign,\N,intron_variant,11.07,0.0076,1KG_AFR_AF,COL2A1
289347,12:48397097:TAC>T,NM_001844.4:c.85+921_85+922del,\N,\N,1/53,Unknown significance,\N,intron_variant,10.87,\N,\N,COL2A1
289348,12:48397109:C>T,NM_001844.4:c.85+911G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,8.182,\N,\N,COL2A1
289349,12:48397112:G>A,NM_001844.4:c.85+908C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,5.987,\N,\N,COL2A1
289350,12:48397112:GCA>G,NM_001844.4:c.85+906_85+907del,\N,\N,1/53,Unknown significance,\N,intron_variant,13.06,\N,\N,COL2A1
289351,12:48397121:C>T,NM_001844.4:c.85+899G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,11.1,\N,\N,COL2A1
289352,12:48397125:C>T,NM_001844.4:c.85+895G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,11.24,0.0015,1KG_AFR_AF,COL2A1
289353,12:48397156:A>C,NM_001844.4:c.85+864T>G,\N,\N,1/53,Unknown significance,\N,intron_variant,16.31,\N,\N,COL2A1
289354,12:48397157:T>G,NM_001844.4:c.85+863A>C,\N,\N,1/53,Unknown significance,\N,intron_variant,16.35,\N,\N,COL2A1
289355,12:48397180:T>C,NM_001844.4:c.85+840A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,8.072,\N,\N,COL2A1
289356,12:48397187:G>A,NM_001844.4:c.85+833C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,8.465,\N,\N,COL2A1
289357,12:48397190:C>A,NM_001844.4:c.85+830G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,6.889,\N,\N,COL2A1
289358,12:48397224:G>A,NM_001844.4:c.85+796C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,22.8,0.001,1KG_SAS_AF,COL2A1
289359,12:48397225:C>T,NM_001844.4:c.85+795G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,23,\N,\N,COL2A1
289360,12:48397292:C>T,NM_001844.4:c.85+728G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,12.36,\N,\N,COL2A1
289361,12:48397295:A>G,NM_001844.4:c.85+725T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,11.79,\N,\N,COL2A1
289362,12:48397342:G>A,NM_001844.4:c.85+678C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,7.108,0.001,1KG_SAS_AF,COL2A1
289363,12:48397352:G>A,NM_001844.4:c.85+668C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,10.16,0.0008,1KG_AFR_AF,COL2A1
289364,12:48397457:T>C,NM_001844.4:c.85+563A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,11.65,0.0008,1KG_AFR_AF,COL2A1
289365,12:48397505:C>T,NM_001844.4:c.85+515G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,12.84,0.0015,1KG_AFR_AF,COL2A1
289366,12:48397517:T>G,NM_001844.4:c.85+503A>C,\N,\N,1/53,Unknown significance,\N,intron_variant,9.637,0.001,1KG_SAS_AF,COL2A1
289367,12:48397537:C>A,NM_001844.4:c.85+483G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,11.16,0.0043,1KG_AMR_AF,COL2A1
289368,12:48397582:CT>C,NM_001844.4:c.85+437del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289369,12:48397583:T>TC,NM_001844.4:c.85+436dup,\N,\N,1/53,Unknown significance,\N,intron_variant,13.9,\N,\N,COL2A1
289370,12:48397585:GC>G,NM_001844.4:c.85+434del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289371,12:48397589:G>A,NM_001844.4:c.85+431C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,14.39,0.001,1KG_EUR_AF,COL2A1
289372,12:48397591:G>T,NM_001844.4:c.85+429C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,12.73,0.001,1KG_EAS_AF,COL2A1
289373,12:48397603:C>T,NM_001844.4:c.85+417G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,10.52,0.0041,1KG_SAS_AF,COL2A1
289374,12:48397628:G>A,NM_001844.4:c.85+392C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,3.67,0.001,1KG_EUR_AF,COL2A1
289375,12:48397649:C>A,NM_001844.4:c.85+371G>T,\N,\N,1/53,Unknown significance,\N,intron_variant,9.749,0.0045,1KG_AFR_AF,COL2A1
289376,12:48397666:G>T,NM_001844.4:c.85+354C>A,\N,\N,1/53,Benign,\N,intron_variant,0.274,0.0083,1KG_AFR_AF,COL2A1
289377,12:48397679:A>G,NM_001844.4:c.85+341T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,8.95,\N,\N,COL2A1
289378,12:48397707:A>G,NM_001844.4:c.85+313T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,9.017,0.001,1KG_SAS_AF,COL2A1
289379,12:48397757:C>G,NM_001844.4:c.85+263G>C,\N,\N,1/53,Benign,\N,intron_variant,7.046,0.0068,1KG_AFR_AF,COL2A1
289380,12:48397758:A>G,NM_001844.4:c.85+262T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,8.455,\N,\N,COL2A1
289381,12:48397764:A>G,NM_001844.4:c.85+256T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,7.81,\N,\N,COL2A1
289382,12:48397775:G>T,NM_001844.4:c.85+245C>A,\N,\N,1/53,Benign,\N,intron_variant,8.134,0.0076,1KG_AFR_AF,COL2A1
289383,12:48397780:G>A,NM_001844.4:c.85+240C>T,\N,\N,1/53,Benign,\N,intron_variant,8.964,0.006,1KG_EUR_AF,COL2A1
289384,12:48397785:G>A,NM_001844.4:c.85+235C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,7.313,0.001,1KG_EAS_AF,COL2A1
289385,12:48397789:T>C,NM_001844.4:c.85+231A>G,\N,\N,1/53,Unknown significance,\N,intron_variant,5.718,\N,\N,COL2A1
289386,12:48397796:A>G,NM_001844.4:c.85+224T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,5.835,0.0043,1KG_AMR_AF,COL2A1
289387,12:48397804:C>T,NM_001844.4:c.85+216G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,9.228,\N,\N,COL2A1
289388,12:48397816:C>T,NM_001844.4:c.85+204G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,10.22,0.001,1KG_EAS_AF,COL2A1
289389,12:48397836:TC>T,NM_001844.4:c.85+183del,\N,\N,1/53,Unknown significance,\N,intron_variant,\N,\N,\N,COL2A1
289390,12:48397875:G>A,NM_001844.4:c.85+145C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,7.536,0.000243191,EXAC_SAS_AF,COL2A1
289391,12:48397893:C>T,NM_001844.4:c.85+127G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,10.65,0.0026455,EXAC_EAS_AF,COL2A1
289392,12:48397905:C>T,NM_001844.4:c.85+115G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,10.49,0.001,1KG_SAS_AF,COL2A1
289393,12:48397906:C>T,NM_001844.4:c.85+114G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,9.688,\N,\N,COL2A1
289394,12:48397924:G>C,NM_001844.4:c.85+96C>G,\N,\N,1/53,Benign,\N,intron_variant,8.057,0.230769,EXAC_FIN_AF,COL2A1
289395,12:48397924:G>T,NM_001844.4:c.85+96C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,8.971,0.000153046,EXAC_SAS_AF,COL2A1
289396,12:48397931:C>T,NM_001844.4:c.85+89G>A,\N,\N,1/53,Unknown significance,\N,intron_variant,11.73,\N,\N,COL2A1
289397,12:48397933:G>A,NM_001844.4:c.85+87C>T,\N,\N,1/53,Unknown significance,\N,intron_variant,10.21,0.0008,1KG_AFR_AF,COL2A1
289398,12:48397943:C>G,NM_001844.4:c.85+77G>C,\N,\N,1/53,Benign,\N,intron_variant,8.717,0.0576,1KG_AMR_AF,COL2A1
289399,12:48397950:G>C,NM_001844.4:c.85+70C>G,\N,\N,1/53,Benign,\N,intron_variant,8.28,0.00518135,EXAC_AFR_AF,COL2A1
289400,12:48397990:G>T,NM_001844.4:c.85+30C>A,\N,\N,1/53,Unknown significance,\N,intron_variant,9.557,\N,\N,COL2A1
289401,12:48398002:G>C,NM_001844.4:c.85+18C>G,\N,\N,1/53,Benign,\N,intron_variant,6.787,0.836364,EVS_EA_AF,COL2A1
289402,12:48398010:G>C,NM_001844.4:c.85+10C>G,\N,\N,1/53,Unknown significance,\N,intron_variant,7.707,\N,\N,COL2A1
289403,12:48398011:A>G,NM_001844.4:c.85+9T>C,\N,\N,1/53,Unknown significance,\N,intron_variant,8.562,\N,\N,COL2A1
289404,12:48398019:C>G,NM_001844.4:c.85+1G>C,\N,\N,1/53,Pathogenic,Stickler syndrome type 1,splice_donor_variant,27,\N,\N,COL2A1
289405,12:48398031:C>G,NM_001844.4:c.74G>C,NP_001835.3:p.Gly25Ala,1/54,\N,Pathogenic,Stickler syndrome,missense_variant,17.91,\N,\N,COL2A1
289406,12:48398044:G>A,NM_001844.4:c.61C>T,NP_001835.3:p.Leu21Phe,1/54,\N,Unknown significance,\N,missense_variant,19.11,\N,\N,COL2A1
289407,12:48398054:G>A,NM_001844.4:c.51C>T,NP_001835.3:p.Val17=,1/54,\N,Unknown significance,\N,synonymous_variant,17.23,0.001,1KG_SAS_AF,COL2A1
289408,12:48398073:AC>A,NM_001844.4:c.31del,NP_001835.3:p.Val11CysfsTer3,1/54,\N,Unknown significance,\N,frameshift_variant,29,\N,\N,COL2A1
289409,12:48398079:G>C,NM_001844.4:c.26C>G,NP_001835.3:p.Thr9Arg,1/54,\N,Unknown significance,\N,missense_variant,23.7,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL2A1
289410,12:48398080:T>A,NM_001844.4:c.25A>T,NP_001835.3:p.Thr9Ser,1/54,\N,Benign,\N,missense_variant,16.71,0.842849,EVS_EA_AF,COL2A1
289411,12:48398088:G>T,NM_001844.4:c.17C>A,NP_001835.3:p.Ala6Asp,1/54,\N,Benign,\N,missense_variant,24.2,0.006,1KG_EAS_AF,COL2A1
289412,12:48398090:C>A,NM_001844.4:c.15G>T,NP_001835.3:p.Gly5=,1/54,\N,Unknown significance,\N,synonymous_variant,20.6,\N,\N,COL2A1
289413,12:48398091:C>G,NM_001844.4:c.14G>C,NP_001835.3:p.Gly5Ala,1/54,\N,Likely benign,\N,missense_variant,23.7,0.0014,1KG_AMR_AF,COL2A1
289414,12:48398097:C>A,NM_001844.4:c.8G>T,NP_001835.3:p.Arg3Leu,1/54,\N,Unknown significance,\N,missense_variant,26.4,0.000269542,EVS_AA_AF,COL2A1
289415,12:48398102:C>A,NM_001844.4:c.3G>T,NP_001835.3:p.Met1?,1/54,\N,Pathogenic,Stickler syndrome,start_lost,25.1,\N,\N,COL2A1
289416,12:48398104:T>C,NM_001844.4:c.1A>G,NP_001835.3:p.Met1?,1/54,\N,Pathogenic,Stickler syndrome,start_lost,22.9,\N,\N,COL2A1
289417,12:48398109:C>T,NM_001844.4:c.-5G>A,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,15.96,0.000146757,EVS_EA_AF,COL2A1
289418,12:48398114:C>T,NM_001844.4:c.-10G>A,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,10.99,\N,\N,COL2A1
289419,12:48398118:G>T,NM_001844.4:c.-14C>A,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,8.183,0.000134372,EXAC_SAS_AF,COL2A1
289420,12:48398128:G>C,NM_001844.4:c.-24C>G,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,6.908,\N,\N,COL2A1
289421,12:48398137:G>A,NM_001844.4:c.-33C>T,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,11.29,0.001,1KG_EAS_AF,COL2A1
289422,12:48398155:C>T,NM_001844.4:c.-51G>A,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,11.23,0.000208768,EXAC_NFE_AF,COL2A1
289423,12:48398191:G>T,NM_001844.4:c.-87C>A,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,19.63,\N,\N,COL2A1
289424,12:48398223:G>A,NM_001844.4:c.-119C>T,\N,1/54,\N,Benign,\N,5_prime_UTR_variant,9.05,0.8688,1KG_EUR_AF,COL2A1
289425,12:48398274:G>A,NM_001844.4:c.-170C>T,\N,1/54,\N,Benign,\N,5_prime_UTR_variant,18.71,0.0151,1KG_AFR_AF,COL2A1
289426,12:48398274:G>T,NM_001844.4:c.-170C>A,\N,1/54,\N,Benign,\N,5_prime_UTR_variant,17.56,0.0091,1KG_AFR_AF,COL2A1
289427,12:48398282:C>A,NM_001844.4:c.-178G>T,\N,1/54,\N,Unknown significance,\N,5_prime_UTR_variant,21.8,0.0008,1KG_AFR_AF,COL2A