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
3159,1:40766232:G>C,NM_001852.3:c.*622C>G,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,11.07,\N,\N,COL9A2
3160,1:40766260:G>A,NM_001852.3:c.*594C>T,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,5.214,0.0015,1KG_AFR_AF,COL9A2
3161,1:40766274:G>T,NM_001852.3:c.*580C>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,1.321,\N,\N,COL9A2
3162,1:40766276:G>A,NM_001852.3:c.*578C>T,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,1.322,0.0121,1KG_AFR_AF,COL9A2
3163,1:40766293:T>C,NM_001852.3:c.*561A>G,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,3.185,0.005,1KG_EAS_AF,COL9A2
3164,1:40766311:C>T,NM_001852.3:c.*543G>A,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,3.659,0.1649,1KG_AFR_AF,COL9A2
3165,1:40766333:GT>G,NM_001852.3:c.*520del,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,8.66,\N,\N,COL9A2
3166,1:40766334:TG>T,NM_001852.3:c.*519del,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,7.905,\N,\N,COL9A2
3167,1:40766355:G>T,NM_001852.3:c.*499C>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,2.624,\N,\N,COL9A2
3168,1:40766358:G>A,NM_001852.3:c.*496C>T,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,4.68,0.001,1KG_EUR_AF,COL9A2
3169,1:40766376:AGC>GGT,NM_001852.3:c.*476_*478delinsACC,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL9A2
3170,1:40766383:G>C,NM_001852.3:c.*471C>G,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,1.895,\N,\N,COL9A2
3171,1:40766411:G>A,NM_001852.3:c.*443C>T,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,4.59,0.001,1KG_EUR_AF,COL9A2
3172,1:40766484:C>T,NM_001852.3:c.*370G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,2.797,\N,\N,COL9A2
3173,1:40766485:G>T,NM_001852.3:c.*369C>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,2.746,\N,\N,COL9A2
3174,1:40766491:C>T,NM_001852.3:c.*363G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,3.909,0.0008,1KG_AFR_AF,COL9A2
3175,1:40766500:C>T,NM_001852.3:c.*354G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,5.424,0.001,1KG_EAS_AF,COL9A2
3176,1:40766540:A>G,NM_001852.3:c.*314T>C,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,4.207,\N,\N,COL9A2
3177,1:40766542:A>T,NM_001852.3:c.*312T>A,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,1.547,0.1899,1KG_AFR_AF,COL9A2
3178,1:40766576:C>T,NM_001852.3:c.*278G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,2.588,\N,\N,COL9A2
3179,1:40766577:G>A,NM_001852.3:c.*277C>T,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,3.2,\N,\N,COL9A2
3180,1:40766587:C>T,NM_001852.3:c.*267G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,6.186,0.0015,1KG_AFR_AF,COL9A2
3181,1:40766591:G>A,NM_001852.3:c.*263C>T,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,6.189,0.0151,1KG_AFR_AF,COL9A2
3182,1:40766603:G>A,NM_001852.3:c.*251C>T,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,3.206,0.0068,1KG_AFR_AF,COL9A2
3183,1:40766618:C>T,NM_001852.3:c.*236G>A,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,6.121,0.1649,1KG_AFR_AF,COL9A2
3184,1:40766632:C>T,NM_001852.3:c.*222G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,5.662,0.0008,1KG_AFR_AF,COL9A2
3185,1:40766637:C>T,NM_001852.3:c.*217G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,7.322,\N,\N,COL9A2
3186,1:40766653:T>G,NM_001852.3:c.*201A>C,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,13.24,0.001,1KG_EUR_AF,COL9A2
3187,1:40766732:A>G,NM_001852.3:c.*122T>C,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,4.499,0.1649,1KG_AFR_AF,COL9A2
3188,1:40766742:A>G,NM_001852.3:c.*112T>C,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,5.672,0.001,1KG_SAS_AF,COL9A2
3189,1:40766743:G>A,NM_001852.3:c.*111C>T,\N,32/32,\N,Benign,\N,3_prime_UTR_variant,6.339,0.0151,1KG_AFR_AF,COL9A2
3190,1:40766754:G>A,NM_001852.3:c.*100C>T,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,6.693,\N,\N,COL9A2
3191,1:40766787:T>C,NM_001852.3:c.*67A>G,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,4.815,\N,\N,COL9A2
3192,1:40766792:AC>A,NM_001852.3:c.*61del,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL9A2
3193,1:40766806:T>G,NM_001852.3:c.*48A>C,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,5.771,0.0000157843,EXAC_NFE_AF,COL9A2
3194,1:40766812:T>C,NM_001852.3:c.*42A>G,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,3.871,0.0000157406,EXAC_NFE_AF,COL9A2
3195,1:40766816:C>CAACTGTAGCTGGGCAGG,NM_001852.3:c.*37_*38insCCTGCCCAGCTACAGTT,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,2.283,0.0000157565,EXAC_NFE_AF,COL9A2
3196,1:40766816:C>T,NM_001852.3:c.*38G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,4.346,0.001,1KG_EAS_AF,COL9A2
3197,1:40766817:G>A,NM_001852.3:c.*37C>T,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,3.249,0.000240211,EXAC_EAS_AF,COL9A2
3198,1:40766835:C>G,NM_001852.3:c.*19G>C,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,8.208,0.0000154698,EXAC_NFE_AF,COL9A2
3199,1:40766835:C>T,NM_001852.3:c.*19G>A,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,8.837,0.000163881,EXAC_FIN_AF,COL9A2
3200,1:40766844:G>A,NM_001852.3:c.*10C>T,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,8.212,\N,\N,COL9A2
3201,1:40766848:T>G,NM_001852.3:c.*6A>C,\N,32/32,\N,Unknown significance,\N,3_prime_UTR_variant,9.614,0.0000153341,EXAC_NFE_AF,COL9A2
3202,1:40766858:G>A,NM_001852.3:c.2066C>T,NP_001843.1:p.Pro689Leu,32/32,\N,Unknown significance,\N,missense_variant,28.2,\N,\N,COL9A2
3203,1:40766865:T>C,NM_001852.3:c.2059A>G,NP_001843.1:p.Lys687Glu,32/32,\N,Unknown significance,\N,missense_variant,28.2,0.000258941,EXAC_NFE_AF,COL9A2
3204,1:40766866:G>A,NM_001852.3:c.2058C>T,NP_001843.1:p.Ile686=,32/32,\N,Unknown significance,\N,synonymous_variant,12.8,0.003,1KG_AFR_AF,COL9A2
3205,1:40766870:G>T,NM_001852.3:c.2054C>A,NP_001843.1:p.Ser685Tyr,32/32,\N,Unknown significance,\N,missense_variant,28.3,0.000121227,EXAC_SAS_AF,COL9A2
3206,1:40766873:C>T,NM_001852.3:c.2051G>A,NP_001843.1:p.Gly684Glu,32/32,\N,Unknown significance,\N,missense_variant,29.3,0.000015204,EXAC_NFE_AF,COL9A2
3207,1:40766874:C>T,NM_001852.3:c.2050G>A,NP_001843.1:p.Gly684Arg,32/32,\N,Unknown significance,\N,missense_variant,25.9,0.0000866401,EXAC_AMR_AF,COL9A2
3208,1:40766887:G>A,NM_001852.3:c.2037C>T,NP_001843.1:p.Arg679=,32/32,\N,Unknown significance,\N,synonymous_variant,11.63,0.0000866251,EXAC_AMR_AF,COL9A2
3209,1:40766888:C>T,NM_001852.3:c.2036G>A,NP_001843.1:p.Arg679His,32/32,\N,Unknown significance,\N,missense_variant,35,0.00208817,EXAC_EAS_AF,COL9A2
3210,1:40766889:G>A,NM_001852.3:c.2035C>T,NP_001843.1:p.Arg679Cys,32/32,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EAS_AF,COL9A2
3211,1:40766895:A>G,NM_001852.3:c.2029T>C,NP_001843.1:p.Ser677Pro,32/32,\N,Unknown significance,\N,missense_variant,23.2,0.0000605914,EXAC_SAS_AF,COL9A2
3212,1:40766902:G>T,NM_001852.3:c.2022C>A,NP_001843.1:p.Ala674=,32/32,\N,Unknown significance,\N,synonymous_variant,10.74,0.0000996016,EXAC_AFR_AF,COL9A2
3213,1:40766904:C>T,NM_001852.3:c.2020G>A,NP_001843.1:p.Ala674Thr,32/32,\N,Unknown significance,\N,missense_variant,35,0.0000302929,EXAC_NFE_AF,COL9A2
3214,1:40766905:C>T,NM_001852.3:c.2019G>A,NP_001843.1:p.Ser673=,32/32,\N,Benign,\N,synonymous_variant,21.5,0.00612801,EVS_AA_AF,COL9A2
3215,1:40766906:G>A,NM_001852.3:c.2018C>T,NP_001843.1:p.Ser673Leu,32/32,\N,Unknown significance,\N,missense_variant,35,0.0000151529,EXAC_NFE_AF,COL9A2
3216,1:40766922:C>T,NM_001852.3:c.2002G>A,NP_001843.1:p.Ala668Thr,32/32,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_SAS_AF,COL9A2
3217,1:40766923:G>A,NM_001852.3:c.2001C>T,NP_001843.1:p.Ala667=,32/32,\N,Benign,\N,synonymous_variant,17.64,0.0461872,EXAC_FIN_AF,COL9A2
3218,1:40766931:C>G,NM_001852.3:c.1993G>C,NP_001843.1:p.Glu665Gln,32/32,\N,Unknown significance,\N,missense_variant,29.3,0.0000868659,EXAC_AMR_AF,COL9A2
3219,1:40766939:C>T,NM_001852.3:c.1985G>A,NP_001843.1:p.Gly662Asp,32/32,\N,Unknown significance,\N,missense_variant,29.7,0.000015298,EXAC_NFE_AF,COL9A2
3220,1:40766941:C>T,NM_001852.3:c.1983G>A,NP_001843.1:p.Pro661=,32/32,\N,Unknown significance,\N,synonymous_variant,12.3,0.000226963,EVS_AA_AF,COL9A2
3221,1:40766942:G>A,NM_001852.3:c.1982C>T,NP_001843.1:p.Pro661Leu,32/32,\N,Unknown significance,\N,missense_variant,34,0.00465116,EVS_EA_AF,COL9A2
3222,1:40766943:G>T,NM_001852.3:c.1981C>A,NP_001843.1:p.Pro661Thr,32/32,\N,Benign,\N,missense_variant,24.7,0.0519,1KG_AMR_AF,COL9A2
3223,1:40766944:C>T,NM_001852.3:c.1980G>A,NP_001843.1:p.Leu660=,32/32,\N,Unknown significance,\N,synonymous_variant,14.06,0.0000153605,EXAC_NFE_AF,COL9A2
3224,1:40766952:C>T,NM_001852.3:c.1972G>A,NP_001843.1:p.Val658Met,32/32,\N,Likely benign,\N,missense_variant,16.4,0.0000155565,EXAC_NFE_AF,COL9A2
3225,1:40766953:G>A,NM_001852.3:c.1971C>T,NP_001843.1:p.Pro657=,32/32,\N,Unknown significance,\N,synonymous_variant,9.78,0.000106225,EXAC_AFR_AF,COL9A2
3226,1:40766956:G>C,NM_001852.3:c.1968C>G,NP_001843.1:p.Gly656=,32/32,\N,Unknown significance,\N,synonymous_variant,6.496,0.0000879662,EXAC_AMR_AF,COL9A2
3227,1:40766962:C>A,NM_001852.3:c.1962G>T,NP_001843.1:p.Leu654=,32/32,\N,Unknown significance,\N,synonymous_variant,16.01,0.000956328,EXAC_FIN_AF,COL9A2
3228,1:40766963:A>G,NM_001852.3:c.1961T>C,NP_001843.1:p.Leu654Pro,32/32,\N,Likely benign,\N,missense_variant,13.36,0.000352775,EXAC_EAS_AF,COL9A2
3229,1:40766972:C>T,NM_001852.3:c.1952G>A,NP_001843.1:p.Arg651Gln,32/32,\N,Unknown significance,\N,missense_variant,26.1,0.001,1KG_EAS_AF,COL9A2
3230,1:40766973:G>A,NM_001852.3:c.1951C>T,NP_001843.1:p.Arg651Ter,32/32,\N,Unknown significance,\N,stop_gained,38,0.000110791,EXAC_AFR_AF,COL9A2
3231,1:40766974:A>C,NM_001852.3:c.1950T>G,NP_001843.1:p.Gly650=,32/32,\N,Unknown significance,\N,synonymous_variant,10.92,\N,\N,COL9A2
3232,1:40766981:T>G,NM_001852.3:c.1943A>C,NP_001843.1:p.Glu648Ala,32/32,\N,Unknown significance,\N,missense_variant,25.1,0.000031026,EXAC_NFE_AF,COL9A2
3233,1:40766983:T>C,NM_001852.3:c.1941A>G,NP_001843.1:p.Gly647=,32/32,\N,Unknown significance,\N,synonymous_variant,4.54,\N,\N,COL9A2
3234,1:40766995:T>C,NM_001852.3:c.1929A>G,NP_001843.1:p.Pro643=,32/32,\N,Unknown significance,\N,synonymous_variant,6.132,0.0000154875,EXAC_NFE_AF,COL9A2
3235,1:40766999:G>T,NM_001852.3:c.1925C>A,NP_001843.1:p.Ser642Tyr,32/32,\N,Unknown significance,\N,missense_variant,25.4,0.0000309425,EXAC_NFE_AF,COL9A2
3236,1:40767006:G>A,NM_001852.3:c.1918C>T,NP_001843.1:p.Arg640Ter,32/32,\N,Unknown significance,\N,stop_gained,37,0.0000773587,EXAC_NFE_AF,COL9A2
3237,1:40767021:C>T,NM_001852.3:c.1903G>A,NP_001843.1:p.Gly635Ser,32/32,\N,Unknown significance,\N,missense_variant,35,0.000106135,EXAC_AFR_AF,COL9A2
3238,1:40767022:G>A,NM_001852.3:c.1902C>T,NP_001843.1:p.Asn634=,32/32,\N,Unknown significance,\N,synonymous_variant,10.99,0.0000881679,EXAC_AMR_AF,COL9A2
3239,1:40767022:G>C,NM_001852.3:c.1902C>G,NP_001843.1:p.Asn634Lys,32/32,\N,Unknown significance,\N,missense_variant,23.9,0.0000310347,EXAC_NFE_AF,COL9A2
3240,1:40767023:T>C,NM_001852.3:c.1901A>G,NP_001843.1:p.Asn634Ser,32/32,\N,Unknown significance,\N,missense_variant,25.5,0.0000882145,EXAC_AMR_AF,COL9A2
3241,1:40767029:G>T,NM_001852.3:c.1895C>A,NP_001843.1:p.Ala632Glu,32/32,\N,Unknown significance,\N,missense_variant,28.8,\N,\N,COL9A2
3242,1:40767031:C>T,NM_001852.3:c.1893G>A,NP_001843.1:p.Gln631=,32/32,\N,Unknown significance,\N,synonymous_variant,14.35,0.0000656858,EXAC_SAS_AF,COL9A2
3243,1:40767041:C>T,NM_001852.3:c.1883G>A,NP_001843.1:p.Arg628Gln,32/32,\N,Benign,\N,missense_variant,27.2,0.0065189,EXAC_FIN_AF,COL9A2
3244,1:40767042:G>A,NM_001852.3:c.1882C>T,NP_001843.1:p.Arg628Trp,32/32,\N,Likely benign,\N,missense_variant,30,0.0014,1KG_AMR_AF,COL9A2
3245,1:40767043:G>T,NM_001852.3:c.1881C>A,NP_001843.1:p.Gly627=,32/32,\N,Unknown significance,\N,synonymous_variant,10.48,0.000116279,EVS_EA_AF,COL9A2
3246,1:40767061:C>A,NM_001852.3:c.1871-8G>T,\N,\N,31/31,Unknown significance,\N,splice_region_variant&intron_variant,4.484,0.00049505,EXAC_EAS_AF,COL9A2
3247,1:40767062:A>G,NM_001852.3:c.1871-9T>C,\N,\N,31/31,Unknown significance,\N,intron_variant,1.417,0.0000163201,EXAC_NFE_AF,COL9A2
3248,1:40767066:G>T,NM_001852.3:c.1871-13C>A,\N,\N,31/31,Unknown significance,\N,intron_variant,0.724,0.0000704622,EXAC_SAS_AF,COL9A2
3249,1:40767078:A>G,NM_001852.3:c.1871-25T>C,\N,\N,31/31,Unknown significance,\N,intron_variant,3.471,0.0000169279,EXAC_NFE_AF,COL9A2
3250,1:40767086:C>A,NM_001852.3:c.1871-33G>T,\N,\N,31/31,Unknown significance,\N,intron_variant,1.396,0.0000347234,EXAC_NFE_AF,COL9A2
3251,1:40767093:TGTCTC>T,NM_001852.3:c.1871-45_1871-41del,\N,\N,31/31,Unknown significance,\N,intron_variant,4.746,0.0000177784,EXAC_NFE_AF,COL9A2
3252,1:40767156:A>C,NM_001852.3:c.1871-103T>G,\N,\N,31/31,Unknown significance,\N,intron_variant,4.489,\N,\N,COL9A2
3253,1:40767209:A>AC,NM_001852.3:c.1871-157dup,\N,\N,31/31,Unknown significance,\N,intron_variant,1.526,\N,\N,COL9A2
3254,1:40767216:G>A,NM_001852.3:c.1871-163C>T,\N,\N,31/31,Unknown significance,\N,intron_variant,3.034,\N,\N,COL9A2
3255,1:40767300:A>G,NM_001852.3:c.1870+184T>C,\N,\N,31/31,Unknown significance,\N,intron_variant,4.501,0.001,1KG_EAS_AF,COL9A2
3256,1:40767314:G>A,NM_001852.3:c.1870+170C>T,\N,\N,31/31,Unknown significance,\N,intron_variant,2.52,\N,\N,COL9A2
3257,1:40767328:C>T,NM_001852.3:c.1870+156G>A,\N,\N,31/31,Unknown significance,\N,intron_variant,4.567,0.001,1KG_EAS_AF,COL9A2
3258,1:40767336:C>T,NM_001852.3:c.1870+148G>A,\N,\N,31/31,Unknown significance,\N,intron_variant,6.472,\N,\N,COL9A2
3259,1:40767337:C>T,NM_001852.3:c.1870+147G>A,\N,\N,31/31,Benign,\N,intron_variant,2.065,0.0099,1KG_EUR_AF,COL9A2
3260,1:40767364:TG>T,NM_001852.3:c.1870+119del,\N,\N,31/31,Benign,\N,intron_variant,4.349,0.0401,1KG_AFR_AF,COL9A2
3261,1:40767392:G>A,NM_001852.3:c.1870+92C>T,\N,\N,31/31,Benign,\N,intron_variant,1.417,0.1641,1KG_AFR_AF,COL9A2
3262,1:40767399:C>T,NM_001852.3:c.1870+85G>A,\N,\N,31/31,Unknown significance,\N,intron_variant,4.283,0.001,1KG_EAS_AF,COL9A2
3263,1:40767400:G>T,NM_001852.3:c.1870+84C>A,\N,\N,31/31,Unknown significance,\N,intron_variant,0.276,0.003,1KG_EAS_AF,COL9A2
3264,1:40767415:G>A,NM_001852.3:c.1870+69C>T,\N,\N,31/31,Benign,\N,intron_variant,3.031,0.0079,1KG_EAS_AF,COL9A2
3265,1:40767426:A>G,NM_001852.3:c.1870+58T>C,\N,\N,31/31,Benign,\N,intron_variant,2.648,0.1762,1KG_AFR_AF,COL9A2
3266,1:40767428:G>A,NM_001852.3:c.1870+56C>T,\N,\N,31/31,Unknown significance,\N,intron_variant,4.885,0.001,1KG_EAS_AF,COL9A2
3267,1:40767429:T>A,NM_001852.3:c.1870+55A>T,\N,\N,31/31,Unknown significance,\N,intron_variant,8.651,0.000314268,EVS_EA_AF,COL9A2
3268,1:40767436:T>C,NM_001852.3:c.1870+48A>G,\N,\N,31/31,Unknown significance,\N,intron_variant,4.735,0.0000628773,EXAC_SAS_AF,COL9A2
3269,1:40767440:C>T,NM_001852.3:c.1870+44G>A,\N,\N,31/31,Unknown significance,\N,intron_variant,4.192,0.0008,1KG_AFR_AF,COL9A2
3270,1:40767456:C>T,NM_001852.3:c.1870+28G>A,\N,\N,31/31,Unknown significance,\N,intron_variant,5.636,0.000123172,EXAC_NFE_AF,COL9A2
3271,1:40767457:T>A,NM_001852.3:c.1870+27A>T,\N,\N,31/31,Unknown significance,\N,intron_variant,8.129,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
3272,1:40767457:T>C,NM_001852.3:c.1870+27A>G,\N,\N,31/31,Unknown significance,\N,intron_variant,4.886,0.0000627038,EXAC_SAS_AF,COL9A2
3273,1:40767459:C>T,NM_001852.3:c.1870+25G>A,\N,\N,31/31,Unknown significance,\N,intron_variant,2.618,0.0000153946,EXAC_NFE_AF,COL9A2
3274,1:40767464:G>A,NM_001852.3:c.1870+20C>T,\N,\N,31/31,Unknown significance,\N,intron_variant,5.398,0.000354925,EXAC_AMR_AF,COL9A2
3275,1:40767468:AG>A,NM_001852.3:c.1870+15del,\N,\N,31/31,Unknown significance,\N,intron_variant,1.586,0.000198649,EXAC_AFR_AF,COL9A2
3276,1:40767475:A>G,NM_001852.3:c.1870+9T>C,\N,\N,31/31,Benign,\N,intron_variant,4.416,0.0136878,EXAC_AFR_AF,COL9A2
3277,1:40767477:G>A,NM_001852.3:c.1870+7C>T,\N,\N,31/31,Unknown significance,\N,splice_region_variant&intron_variant,1.65,0.0000153384,EXAC_NFE_AF,COL9A2
3278,1:40767478:G>T,NM_001852.3:c.1870+6C>A,\N,\N,31/31,Unknown significance,\N,splice_region_variant&intron_variant,6.473,0.000226963,EVS_AA_AF,COL9A2
3279,1:40767479:C>G,NM_001852.3:c.1870+5G>C,\N,\N,31/31,Unknown significance,\N,splice_region_variant&intron_variant,15.99,0.000453926,EVS_AA_AF,COL9A2
3280,1:40767488:G>A,NM_001852.3:c.1866C>T,NP_001843.1:p.Ile622=,31/32,\N,Unknown significance,\N,synonymous_variant,13.1,0.00159208,EXAC_AMR_AF,COL9A2
3281,1:40767495:G>A,NM_001852.3:c.1859C>T,NP_001843.1:p.Pro620Leu,31/32,\N,Unknown significance,\N,missense_variant,33,0.0000152999,EXAC_NFE_AF,COL9A2
3282,1:40767496:G>A,NM_001852.3:c.1858C>T,NP_001843.1:p.Pro620Ser,31/32,\N,Unknown significance,\N,missense_variant,25.9,0.0000306007,EXAC_NFE_AF,COL9A2
3283,1:40767497:G>C,NM_001852.3:c.1857C>G,NP_001843.1:p.Pro619=,31/32,\N,Unknown significance,\N,synonymous_variant,9.243,0.0000152943,EXAC_NFE_AF,COL9A2
3284,1:40767499:G>A,NM_001852.3:c.1855C>T,NP_001843.1:p.Pro619Ser,31/32,\N,Unknown significance,\N,missense_variant,23.1,0.0000152957,EXAC_NFE_AF,COL9A2
3285,1:40767511:C>T,NM_001852.3:c.1843G>A,NP_001843.1:p.Gly615Arg,31/32,\N,Unknown significance,\N,missense_variant,35,0.00116009,EXAC_OTH_AF,COL9A2
3286,1:40767512:G>A,NM_001852.3:c.1842C>T,NP_001843.1:p.Pro614=,31/32,\N,Unknown significance,\N,synonymous_variant,12.53,0.0000153478,EXAC_NFE_AF,COL9A2
3287,1:40767512:G>C,NM_001852.3:c.1842C>G,NP_001843.1:p.Pro614=,31/32,\N,Unknown significance,\N,synonymous_variant,11.1,0.0000153478,EXAC_NFE_AF,COL9A2
3288,1:40767515:G>A,NM_001852.3:c.1839C>T,NP_001843.1:p.His613=,31/32,\N,Unknown significance,\N,synonymous_variant,10.44,0.000397931,EXAC_AFR_AF,COL9A2
3289,1:40767518:C>G,NM_001852.3:c.1836G>C,NP_001843.1:p.Gly612=,31/32,\N,Unknown significance,\N,synonymous_variant,14.56,0.0000768262,EXAC_NFE_AF,COL9A2
3290,1:40767520:C>T,NM_001852.3:c.1834G>A,NP_001843.1:p.Gly612Arg,31/32,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EUR_AF,COL9A2
3291,1:40767522:C>T,NM_001852.3:c.1832G>A,NP_001843.1:p.Arg611Gln,31/32,\N,Unknown significance,\N,missense_variant,35,\N,\N,COL9A2
3292,1:40767523:G>A,NM_001852.3:c.1831C>T,NP_001843.1:p.Arg611Trp,31/32,\N,Unknown significance,\N,missense_variant,35,0.0014,1KG_AMR_AF,COL9A2
3293,1:40767527:C>T,NM_001852.3:c.1827G>A,NP_001843.1:p.Val609=,31/32,\N,Unknown significance,\N,synonymous_variant,15.45,0.0000997606,EXAC_AFR_AF,COL9A2
3294,1:40767528:A>C,NM_001852.3:c.1826T>G,NP_001843.1:p.Val609Gly,31/32,\N,Unknown significance,\N,missense_variant,10.22,0.000117509,EXAC_EAS_AF,COL9A2
3295,1:40767530:T>C,NM_001852.3:c.1824A>G,NP_001843.1:p.Glu608=,31/32,\N,Unknown significance,\N,synonymous_variant,6.59,0.000697674,EVS_EA_AF,COL9A2
3296,1:40767533:T>C,NM_001852.3:c.1821A>G,NP_001843.1:p.Gly607=,31/32,\N,Unknown significance,\N,synonymous_variant,3.552,\N,\N,COL9A2
3297,1:40767555:C>T,NM_001852.3:c.1799G>A,NP_001843.1:p.Arg600His,31/32,\N,Unknown significance,\N,missense_variant,28.9,\N,\N,COL9A2
3298,1:40767556:G>A,NM_001852.3:c.1798C>T,NP_001843.1:p.Arg600Cys,31/32,\N,Unknown significance,\N,missense_variant,29.4,0.00019976,EXAC_SAS_AF,COL9A2
3299,1:40767561:C>T,NM_001852.3:c.1793G>A,NP_001843.1:p.Gly598Glu,31/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,31,0.0000171633,EXAC_NFE_AF,COL9A2
3300,1:40767568:A>C,NM_001852.3:c.1793-7T>G,\N,\N,30/31,Unknown significance,\N,splice_region_variant&intron_variant,9.706,\N,\N,COL9A2
3301,1:40767570:A>T,NM_001852.3:c.1793-9T>A,\N,\N,30/31,Unknown significance,\N,intron_variant,9.933,0.0000184182,EXAC_NFE_AF,COL9A2
3302,1:40767571:A>G,NM_001852.3:c.1793-10T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,12.6,0.0000184182,EXAC_NFE_AF,COL9A2
3303,1:40767578:A>G,NM_001852.3:c.1793-17T>C,\N,\N,30/31,Benign,\N,intron_variant,1.344,0.202672,EXAC_AFR_AF,COL9A2
3304,1:40767581:T>C,NM_001852.3:c.1793-20A>G,\N,\N,30/31,Unknown significance,\N,intron_variant,0.428,0.0000754945,EXAC_SAS_AF,COL9A2
3305,1:40767584:T>C,NM_001852.3:c.1793-23A>G,\N,\N,30/31,Unknown significance,\N,intron_variant,3.109,0.000116877,EXAC_AMR_AF,COL9A2
3306,1:40767586:A>G,NM_001852.3:c.1793-25T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,0.244,0.000078284,EXAC_SAS_AF,COL9A2
3307,1:40767589:T>C,NM_001852.3:c.1793-28A>G,\N,\N,30/31,Unknown significance,\N,intron_variant,1.577,0.000548589,EXAC_SAS_AF,COL9A2
3308,1:40767600:G>C,NM_001852.3:c.1793-39C>G,\N,\N,30/31,Unknown significance,\N,intron_variant,0.237,0.000137061,EXAC_AMR_AF,COL9A2
3309,1:40767607:C>T,NM_001852.3:c.1793-46G>A,\N,\N,30/31,Unknown significance,\N,intron_variant,1.979,0.000213675,EXAC_EAS_AF,COL9A2
3310,1:40767636:G>A,NM_001852.3:c.1793-75C>T,\N,\N,30/31,Unknown significance,\N,intron_variant,4.456,\N,\N,COL9A2
3311,1:40767637:C>T,NM_001852.3:c.1793-76G>A,\N,\N,30/31,Unknown significance,\N,intron_variant,5.134,\N,\N,COL9A2
3312,1:40767672:T>C,NM_001852.3:c.1793-111A>G,\N,\N,30/31,Benign,\N,intron_variant,3.237,0.0278,1KG_EAS_AF,COL9A2
3313,1:40767672:TAGA>T,NM_001852.3:c.1793-114_1793-112del,\N,\N,30/31,Benign,\N,intron_variant,9.05,0.007,1KG_EUR_AF,COL9A2
3314,1:40767680:A>G,NM_001852.3:c.1793-119T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,7.107,\N,\N,COL9A2
3315,1:40767714:A>G,NM_001852.3:c.1793-153T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,16.33,0.001,1KG_EAS_AF,COL9A2
3316,1:40767724:A>C,NM_001852.3:c.1793-163T>G,\N,\N,30/31,Unknown significance,\N,intron_variant,15.88,0.003,1KG_EAS_AF,COL9A2
3317,1:40767754:A>G,NM_001852.3:c.1793-193T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,2.201,\N,\N,COL9A2
3318,1:40767774:A>C,NM_001852.3:c.1793-213T>G,\N,\N,30/31,Unknown significance,\N,intron_variant,1.303,0.0014,1KG_AMR_AF,COL9A2
3319,1:40767793:A>G,NM_001852.3:c.1793-232T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,3.124,0.0045,1KG_AFR_AF,COL9A2
3320,1:40767798:CTG>C,NM_001852.3:c.1793-239_1793-238del,\N,\N,30/31,Benign,\N,intron_variant,2.784,0.2005,1KG_AFR_AF,COL9A2
3321,1:40767818:A>G,NM_001852.3:c.1793-257T>C,\N,\N,30/31,Benign,\N,intron_variant,2.908,0.0113,1KG_AFR_AF,COL9A2
3322,1:40767880:T>TC,NM_001852.3:c.1793-320dup,\N,\N,30/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3323,1:40767888:C>T,NM_001852.3:c.1793-327G>A,\N,\N,30/31,Benign,\N,intron_variant,7.087,0.0706,1KG_EUR_AF,COL9A2
3324,1:40767900:A>G,NM_001852.3:c.1793-339T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,3.983,\N,\N,COL9A2
3325,1:40767902:A>G,NM_001852.3:c.1793-341T>C,\N,\N,30/31,Benign,\N,intron_variant,3.735,0.2005,1KG_AFR_AF,COL9A2
3326,1:40767939:G>A,NM_001852.3:c.1792+354C>T,\N,\N,30/31,Unknown significance,\N,intron_variant,1.936,\N,\N,COL9A2
3327,1:40767981:C>G,NM_001852.3:c.1792+312G>C,\N,\N,30/31,Unknown significance,\N,intron_variant,1.067,\N,\N,COL9A2
3328,1:40767982:G>A,NM_001852.3:c.1792+311C>T,\N,\N,30/31,Benign,\N,intron_variant,0.38,0.0061,1KG_AFR_AF,COL9A2
3329,1:40768050:A>G,NM_001852.3:c.1792+243T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,3.486,0.001,1KG_EUR_AF,COL9A2
3330,1:40768102:C>T,NM_001852.3:c.1792+191G>A,\N,\N,30/31,Benign,\N,intron_variant,0.495,0.028,1KG_AFR_AF,COL9A2
3331,1:40768111:A>G,NM_001852.3:c.1792+182T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,4.555,0.0015,1KG_AFR_AF,COL9A2
3332,1:40768134:G>A,NM_001852.3:c.1792+159C>T,\N,\N,30/31,Unknown significance,\N,intron_variant,0.752,0.0014,1KG_AMR_AF,COL9A2
3333,1:40768138:G>C,NM_001852.3:c.1792+155C>G,\N,\N,30/31,Unknown significance,\N,intron_variant,2.027,0.0015,1KG_AFR_AF,COL9A2
3334,1:40768143:T>G,NM_001852.3:c.1792+150A>C,\N,\N,30/31,Unknown significance,\N,intron_variant,6.45,\N,\N,COL9A2
3335,1:40768157:G>C,NM_001852.3:c.1792+136C>G,\N,\N,30/31,Unknown significance,\N,intron_variant,2.751,0.0008,1KG_AFR_AF,COL9A2
3336,1:40768166:C>A,NM_001852.3:c.1792+127G>T,\N,\N,30/31,Unknown significance,\N,intron_variant,4.739,0.0015,1KG_AFR_AF,COL9A2
3337,1:40768189:C>T,NM_001852.3:c.1792+104G>A,\N,\N,30/31,Unknown significance,\N,intron_variant,1.94,\N,\N,COL9A2
3338,1:40768191:G>A,NM_001852.3:c.1792+102C>T,\N,\N,30/31,Benign,\N,intron_variant,1.688,0.0828,1KG_SAS_AF,COL9A2
3339,1:40768236:C>T,NM_001852.3:c.1792+57G>A,\N,\N,30/31,Unknown significance,\N,intron_variant,0.124,\N,\N,COL9A2
3340,1:40768238:G>A,NM_001852.3:c.1792+55C>T,\N,\N,30/31,Benign,\N,intron_variant,1.489,0.0307,1KG_SAS_AF,COL9A2
3341,1:40768246:A>G,NM_001852.3:c.1792+47T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,0.254,0.0008,1KG_AFR_AF,COL9A2
3342,1:40768253:C>A,NM_001852.3:c.1792+40G>T,\N,\N,30/31,Unknown significance,\N,intron_variant,3.495,0.0000439638,EXAC_NFE_AF,COL9A2
3343,1:40768259:C>T,NM_001852.3:c.1792+34G>A,\N,\N,30/31,Unknown significance,\N,intron_variant,6.414,0.000215406,EXAC_NFE_AF,COL9A2
3344,1:40768273:C>T,NM_001852.3:c.1792+20G>A,\N,\N,30/31,Unknown significance,\N,intron_variant,4.771,\N,\N,COL9A2
3345,1:40768274:A>G,NM_001852.3:c.1792+19T>C,\N,\N,30/31,Unknown significance,\N,intron_variant,5.224,0.0000385862,EXAC_NFE_AF,COL9A2
3346,1:40768276:C>T,NM_001852.3:c.1792+17G>A,\N,\N,30/31,Benign,\N,intron_variant,0.384,0.171505,EXAC_EAS_AF,COL9A2
3347,1:40768277:G>A,NM_001852.3:c.1792+16C>T,\N,\N,30/31,Unknown significance,\N,intron_variant,2.716,0.000297089,EXAC_EAS_AF,COL9A2
3348,1:40768277:G>T,NM_001852.3:c.1792+16C>A,\N,\N,30/31,Unknown significance,\N,intron_variant,1.257,0.000297089,EXAC_EAS_AF,COL9A2
3349,1:40768288:C>T,NM_001852.3:c.1792+5G>A,\N,\N,30/31,Unknown significance,\N,splice_region_variant&intron_variant,14.72,0.0000684088,EXAC_NFE_AF,COL9A2
3350,1:40768303:C>T,NM_001852.3:c.1782G>A,NP_001843.1:p.Thr594=,30/32,\N,Unknown significance,\N,synonymous_variant,16.32,0.0000623597,EXAC_NFE_AF,COL9A2
3351,1:40768304:G>A,NM_001852.3:c.1781C>T,NP_001843.1:p.Thr594Met,30/32,\N,Unknown significance,\N,missense_variant,29.1,0.00465915,EXAC_EAS_AF,COL9A2
3352,1:40768311:C>T,NM_001852.3:c.1774G>A,NP_001843.1:p.Gly592Ser,30/32,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_SAS_AF,COL9A2
3353,1:40768312:G>A,NM_001852.3:c.1773C>T,NP_001843.1:p.Ile591=,30/32,\N,Unknown significance,\N,synonymous_variant,12.53,0.002,1KG_SAS_AF,COL9A2
3354,1:40768318:A>C,NM_001852.3:c.1767T>G,NP_001843.1:p.Gly589=,30/32,\N,Unknown significance,\N,synonymous_variant,0.243,0.0000585583,EXAC_NFE_AF,COL9A2
3355,1:40768323:C>T,NM_001852.3:c.1762G>A,NP_001843.1:p.Val588Met,30/32,\N,Likely benign,\N,missense_variant,23.3,0.000470367,EXAC_EAS_AF,COL9A2
3356,1:40768324:G>A,NM_001852.3:c.1761C>T,NP_001843.1:p.Ala587=,30/32,\N,Unknown significance,\N,synonymous_variant,14.16,0.00166373,EXAC_SAS_AF,COL9A2
3357,1:40768332:C>A,NM_001852.3:c.1753G>T,NP_001843.1:p.Val585Leu,30/32,\N,Likely benign,\N,missense_variant,19.01,0.000490196,EXAC_EAS_AF,COL9A2
3358,1:40768332:C>T,NM_001852.3:c.1753G>A,NP_001843.1:p.Val585Met,30/32,\N,Likely benign,\N,missense_variant,24.6,0.001,1KG_EAS_AF,COL9A2
3359,1:40768344:C>T,NM_001852.3:c.1741G>A,NP_001843.1:p.Val581Ile,30/32,\N,Benign,\N,missense_variant,8.863,0.224455,EXAC_AFR_AF,COL9A2
3360,1:40768345:G>A,NM_001852.3:c.1740C>T,NP_001843.1:p.Gly580=,30/32,\N,Unknown significance,\N,synonymous_variant,13.29,\N,\N,COL9A2
3361,1:40768346:C>T,NM_001852.3:c.1739G>A,NP_001843.1:p.Gly580Asp,30/32,\N,Unknown significance,\N,missense_variant,32,0.0000355391,EXAC_NFE_AF,COL9A2
3362,1:40768348:C>T,NM_001852.3:c.1737G>A,NP_001843.1:p.Arg579=,30/32,\N,Unknown significance,\N,synonymous_variant,15.78,\N,\N,COL9A2
3363,1:40768349:C>T,NM_001852.3:c.1736G>A,NP_001843.1:p.Arg579Gln,30/32,\N,Unknown significance,\N,missense_variant,35,0.000584454,EXAC_EAS_AF,COL9A2
3364,1:40768353:G>C,NM_001852.3:c.1732C>G,NP_001843.1:p.Pro578Ala,30/32,\N,Unknown significance,\N,missense_variant,5.978,0.000225785,EXAC_NFE_AF,COL9A2
3365,1:40768367:T>C,NM_001852.3:c.1718A>G,NP_001843.1:p.His573Arg,30/32,\N,Unknown significance,\N,missense_variant,23,0.00010636,EXAC_SAS_AF,COL9A2
3366,1:40768370:G>T,NM_001852.3:c.1715C>A,NP_001843.1:p.Pro572His,30/32,\N,Unknown significance,\N,missense_variant,22.6,0.0008,1KG_AFR_AF,COL9A2
3367,1:40768383:C>T,NM_001852.3:c.1702G>A,NP_001843.1:p.Gly568Ser,30/32,\N,Unknown significance,\N,missense_variant,34,\N,\N,COL9A2
3368,1:40768385:G>T,NM_001852.3:c.1700C>A,NP_001843.1:p.Pro567Gln,30/32,\N,Unknown significance,\N,missense_variant,25.5,0.00110619,EXAC_EAS_AF,COL9A2
3369,1:40768397:G>T,NM_001852.3:c.1688C>A,NP_001843.1:p.Pro563His,30/32,\N,Unknown significance,\N,missense_variant,29.1,0.001,1KG_EAS_AF,COL9A2
3370,1:40768432:C>T,NM_001852.3:c.1653G>A,NP_001843.1:p.Ala551=,30/32,\N,Unknown significance,\N,synonymous_variant,16.27,0.00362319,EXAC_EAS_AF,COL9A2
3371,1:40768433:G>A,NM_001852.3:c.1652C>T,NP_001843.1:p.Ala551Val,30/32,\N,Unknown significance,\N,missense_variant,26.4,0.000101605,EXAC_NFE_AF,COL9A2
3372,1:40768446:C>T,NM_001852.3:c.1639G>A,NP_001843.1:p.Glu547Lys,30/32,\N,Unknown significance,\N,missense_variant,27.3,0.00105042,EXAC_AMR_AF,COL9A2
3373,1:40768448:C>T,NM_001852.3:c.1637G>A,NP_001843.1:p.Arg546Gln,30/32,\N,Unknown significance,\N,missense_variant,35,0.000117178,EXAC_NFE_AF,COL9A2
3374,1:40768449:G>A,NM_001852.3:c.1636C>T,NP_001843.1:p.Arg546Trp,30/32,\N,Unknown significance,\N,missense_variant,33,\N,\N,COL9A2
3375,1:40768449:G>C,NM_001852.3:c.1636C>G,NP_001843.1:p.Arg546Gly,30/32,\N,Unknown significance,\N,missense_variant,27.4,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
3376,1:40768449:G>T,NM_001852.3:c.1636C>A,NP_001843.1:p.Arg546=,30/32,\N,Unknown significance,\N,synonymous_variant,12.75,0.000249501,EXAC_SAS_AF,COL9A2
3377,1:40768451:T>G,NM_001852.3:c.1634A>C,NP_001843.1:p.Lys545Thr,30/32,\N,Unknown significance,\N,missense_variant,24.2,0.000120163,EXAC_NFE_AF,COL9A2
3378,1:40768461:C>G,NM_001852.3:c.1624G>C,NP_001843.1:p.Val542Leu,30/32,\N,Unknown significance,\N,missense_variant,26,0.001,1KG_EAS_AF,COL9A2
3379,1:40768464:C>T,NM_001852.3:c.1621G>A,NP_001843.1:p.Ala541Thr,30/32,\N,Benign,\N,missense_variant,26.3,0.00621547,EXAC_AFR_AF,COL9A2
3380,1:40768475:A>C,NM_001852.3:c.1610T>G,NP_001843.1:p.Leu537Arg,30/32,\N,Unknown significance,\N,missense_variant,27.9,\N,\N,COL9A2
3381,1:40768483:TGGAGGGAG>T,NM_001852.3:c.1604-10_1604-3del,\N,\N,29/31,Benign,\N,splice_region_variant&intron_variant,12.71,0.18,1KG_AFR_AF,COL9A2
3382,1:40768483:T>TGGAG,NM_001852.3:c.1604-6_1604-3dup,\N,\N,29/31,Benign,\N,splice_region_variant&intron_variant,12.94,0.0357143,EXAC_OTH_AF,COL9A2
3383,1:40768483:TGGAG>T,NM_001852.3:c.1604-6_1604-3del,\N,\N,29/31,Benign,\N,splice_region_variant&intron_variant,12.15,0.005,EXAC_AMR_AF,COL9A2
3384,1:40768489:G>C,NM_001852.3:c.1604-8C>G,\N,\N,29/31,Unknown significance,\N,splice_region_variant&intron_variant,9.141,\N,\N,COL9A2
3385,1:40768525:G>A,NM_001852.3:c.1604-44C>T,\N,\N,29/31,Benign,\N,intron_variant,4.448,0.0913043,EXAC_EAS_AF,COL9A2
3386,1:40768612:G>A,NM_001852.3:c.1604-131C>T,\N,\N,29/31,Benign,\N,intron_variant,2.163,0.0068,1KG_AFR_AF,COL9A2
3387,1:40768616:T>C,NM_001852.3:c.1604-135A>G,\N,\N,29/31,Benign,\N,intron_variant,2.356,0.0086,1KG_AMR_AF,COL9A2
3388,1:40768625:C>T,NM_001852.3:c.1604-144G>A,\N,\N,29/31,Benign,\N,intron_variant,3.633,0.1997,1KG_AFR_AF,COL9A2
3389,1:40768652:T>C,NM_001852.3:c.1603+151A>G,\N,\N,29/31,Unknown significance,\N,intron_variant,3.476,0.002,1KG_SAS_AF,COL9A2
3390,1:40768682:A>G,NM_001852.3:c.1603+121T>C,\N,\N,29/31,Unknown significance,\N,intron_variant,4.064,0.0015,1KG_AFR_AF,COL9A2
3391,1:40768709:T>C,NM_001852.3:c.1603+94A>G,\N,\N,29/31,Unknown significance,\N,intron_variant,2.604,0.0008,1KG_AFR_AF,COL9A2
3392,1:40768727:C>T,NM_001852.3:c.1603+76G>A,\N,\N,29/31,Benign,\N,intron_variant,1.276,0.0575,1KG_AFR_AF,COL9A2
3393,1:40768739:G>A,NM_001852.3:c.1603+64C>T,\N,\N,29/31,Unknown significance,\N,intron_variant,1.489,\N,\N,COL9A2
3394,1:40768744:G>C,NM_001852.3:c.1603+59C>G,\N,\N,29/31,Unknown significance,\N,intron_variant,0.004,0.0045,1KG_AFR_AF,COL9A2
3395,1:40768756:C>T,NM_001852.3:c.1603+47G>A,\N,\N,29/31,Unknown significance,\N,intron_variant,1.776,0.000150739,EXAC_AFR_AF,COL9A2
3396,1:40768757:G>A,NM_001852.3:c.1603+46C>T,\N,\N,29/31,Unknown significance,\N,intron_variant,2.443,0.000116279,EVS_EA_AF,COL9A2
3397,1:40768757:G>C,NM_001852.3:c.1603+46C>G,\N,\N,29/31,Unknown significance,\N,intron_variant,0.514,0.0000820614,EXAC_SAS_AF,COL9A2
3398,1:40768760:G>T,NM_001852.3:c.1603+43C>A,\N,\N,29/31,Unknown significance,\N,intron_variant,0.57,0.0014,1KG_AMR_AF,COL9A2
3399,1:40768763:G>A,NM_001852.3:c.1603+40C>T,\N,\N,29/31,Unknown significance,\N,intron_variant,5.792,0.000116306,EVS_EA_AF,COL9A2
3400,1:40768764:C>A,NM_001852.3:c.1603+39G>T,\N,\N,29/31,Unknown significance,\N,intron_variant,3.911,0.000976245,EXAC_EAS_AF,COL9A2
3401,1:40768766:CT>C,NM_001852.3:c.1603+36del,\N,\N,29/31,Unknown significance,\N,intron_variant,6.237,0.0000222965,EXAC_NFE_AF,COL9A2
3402,1:40768769:G>A,NM_001852.3:c.1603+34C>T,\N,\N,29/31,Unknown significance,\N,intron_variant,0.596,0.000317158,EXAC_EAS_AF,COL9A2
3403,1:40768773:T>A,NM_001852.3:c.1603+30A>T,\N,\N,29/31,Unknown significance,\N,intron_variant,7.997,0.000138504,EXAC_AFR_AF,COL9A2
3404,1:40768774:G>A,NM_001852.3:c.1603+29C>T,\N,\N,29/31,Unknown significance,\N,intron_variant,5.283,0.000152532,EXAC_EAS_AF,COL9A2
3405,1:40768776:C>G,NM_001852.3:c.1603+27G>C,\N,\N,29/31,Unknown significance,\N,intron_variant,5.501,0.000150557,EXAC_EAS_AF,COL9A2
3406,1:40768776:CTG>C,NM_001852.3:c.1603+25_1603+26del,\N,\N,29/31,Unknown significance,\N,intron_variant,5.868,0.0000210049,EXAC_NFE_AF,COL9A2
3407,1:40768784:AG>A,NM_001852.3:c.1603+18del,\N,\N,29/31,Unknown significance,\N,intron_variant,7.154,0.0000200497,EXAC_NFE_AF,COL9A2
3408,1:40768787:G>A,NM_001852.3:c.1603+16C>T,\N,\N,29/31,Unknown significance,\N,intron_variant,8.668,0.000453926,EVS_AA_AF,COL9A2
3409,1:40768788:G>T,NM_001852.3:c.1603+15C>A,\N,\N,29/31,Unknown significance,\N,intron_variant,7.584,0.000702445,EXAC_EAS_AF,COL9A2
3410,1:40768792:C>T,NM_001852.3:c.1603+11G>A,\N,\N,29/31,Unknown significance,\N,intron_variant,11.52,0.000303674,EXAC_SAS_AF,COL9A2
3411,1:40768796:C>T,NM_001852.3:c.1603+7G>A,\N,\N,29/31,Unknown significance,\N,splice_region_variant&intron_variant,12.95,0.000134336,EXAC_EAS_AF,COL9A2
3412,1:40768807:C>A,NM_001852.3:c.1599G>T,NP_001843.1:p.Leu533=,29/32,\N,Unknown significance,\N,synonymous_variant,16.19,0.000232558,EVS_EA_AF,COL9A2
3413,1:40768816:C>T,NM_001852.3:c.1590G>A,NP_001843.1:p.Leu530=,29/32,\N,Unknown significance,\N,synonymous_variant,13.55,0.000226963,EVS_AA_AF,COL9A2
3414,1:40768819:C>T,NM_001852.3:c.1587G>A,NP_001843.1:p.Ala529=,29/32,\N,Unknown significance,\N,synonymous_variant,21.2,0.0000177374,EXAC_NFE_AF,COL9A2
3415,1:40768822:C>A,NM_001852.3:c.1584G>T,NP_001843.1:p.Val528=,29/32,\N,Unknown significance,\N,synonymous_variant,16.74,\N,\N,COL9A2
3416,1:40768830:C>T,NM_001852.3:c.1576G>A,NP_001843.1:p.Val526Met,29/32,\N,Unknown significance,\N,missense_variant,25.5,0.00456841,EXAC_AFR_AF,COL9A2
3417,1:40768837:C>G,NM_001852.3:c.1569G>C,NP_001843.1:p.Gln523His,29/32,\N,Unknown significance,\N,missense_variant,28.2,0.0000184556,EXAC_NFE_AF,COL9A2
3418,1:40768837:C>T,NM_001852.3:c.1569G>A,NP_001843.1:p.Gln523=,29/32,\N,Unknown significance,\N,synonymous_variant,13.92,0.0000369113,EXAC_NFE_AF,COL9A2
3419,1:40768839:G>T,NM_001852.3:c.1567C>A,NP_001843.1:p.Gln523Lys,29/32,\N,Unknown significance,\N,missense_variant,31,0.000218962,EXAC_AMR_AF,COL9A2
3420,1:40768842:C>G,NM_001852.3:c.1564G>C,NP_001843.1:p.Asp522His,29/32,\N,Unknown significance,\N,missense_variant,32,\N,\N,COL9A2
3421,1:40768842:C>A,NM_001852.3:c.1564G>T,NP_001843.1:p.Asp522Tyr,29/32,\N,Unknown significance,\N,missense_variant,34,0.000075123,EXAC_NFE_AF,COL9A2
3422,1:40768842:C>T,NM_001852.3:c.1564G>A,NP_001843.1:p.Asp522Asn,29/32,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,COL9A2
3423,1:40768845:T>C,NM_001852.3:c.1561A>G,NP_001843.1:p.Thr521Ala,29/32,\N,Unknown significance,\N,missense_variant,23.2,0.001,1KG_EUR_AF,COL9A2
3424,1:40768853:C>A,NM_001852.3:c.1553G>T,NP_001843.1:p.Arg518Leu,29/32,\N,Unknown significance,\N,missense_variant,35,0.0029,1KG_AMR_AF,COL9A2
3425,1:40768853:C>T,NM_001852.3:c.1553G>A,NP_001843.1:p.Arg518Gln,29/32,\N,Unknown significance,\N,missense_variant,35,0.0000388289,EXAC_NFE_AF,COL9A2
3426,1:40768854:G>C,NM_001852.3:c.1552C>G,NP_001843.1:p.Arg518Gly,29/32,\N,Unknown significance,\N,missense_variant,33,0.000019545,EXAC_NFE_AF,COL9A2
3427,1:40768855:G>A,NM_001852.3:c.1551C>T,NP_001843.1:p.Gly517=,29/32,\N,Benign,\N,splice_region_variant&synonymous_variant,14.44,0.00970874,EXAC_AFR_AF,COL9A2
3428,1:40768865:C>G,NM_001852.3:c.1549-8G>C,\N,\N,28/31,Unknown significance,\N,splice_region_variant&intron_variant,12.37,\N,\N,COL9A2
3429,1:40768870:GC>G,NM_001852.3:c.1549-14del,\N,\N,28/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3430,1:40768888:C>G,NM_001852.3:c.1549-31G>C,\N,\N,28/31,Unknown significance,\N,intron_variant,10.01,0.0000824266,EXAC_SAS_AF,COL9A2
3431,1:40768891:G>A,NM_001852.3:c.1549-34C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,6.701,0.0014,1KG_AMR_AF,COL9A2
3432,1:40768895:A>G,NM_001852.3:c.1549-38T>C,\N,\N,28/31,Unknown significance,\N,intron_variant,1.082,0.0000850629,EXAC_SAS_AF,COL9A2
3433,1:40768898:A>G,NM_001852.3:c.1549-41T>C,\N,\N,28/31,Unknown significance,\N,intron_variant,3.864,0.000341997,EXAC_SAS_AF,COL9A2
3434,1:40768901:G>A,NM_001852.3:c.1549-44C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,5.702,\N,\N,COL9A2
3435,1:40768904:C>A,NM_001852.3:c.1549-47G>T,\N,\N,28/31,Unknown significance,\N,intron_variant,3.146,0.0000264285,EXAC_NFE_AF,COL9A2
3436,1:40768907:C>T,NM_001852.3:c.1549-50G>A,\N,\N,28/31,Unknown significance,\N,intron_variant,8.853,0.0000270709,EXAC_NFE_AF,COL9A2
3437,1:40768908:G>A,NM_001852.3:c.1549-51C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,6.302,0.000200803,EXAC_EAS_AF,COL9A2
3438,1:40768922:T>A,NM_001852.3:c.1549-65A>T,\N,\N,28/31,Unknown significance,\N,intron_variant,5.378,0.0014,1KG_AMR_AF,COL9A2
3439,1:40768950:G>C,NM_001852.3:c.1549-93C>G,\N,\N,28/31,Unknown significance,\N,intron_variant,0.27,\N,\N,COL9A2
3440,1:40768962:G>A,NM_001852.3:c.1549-105C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,0.117,0.0015,1KG_AFR_AF,COL9A2
3441,1:40768976:C>T,NM_001852.3:c.1549-119G>A,\N,\N,28/31,Unknown significance,\N,intron_variant,5.014,\N,\N,COL9A2
3442,1:40768979:G>A,NM_001852.3:c.1549-122C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,4.635,0.001,1KG_EUR_AF,COL9A2
3443,1:40768996:A>G,NM_001852.3:c.1549-139T>C,\N,\N,28/31,Unknown significance,\N,intron_variant,3.614,\N,\N,COL9A2
3444,1:40769000:G>A,NM_001852.3:c.1549-143C>T,\N,\N,28/31,Benign,\N,intron_variant,3.736,0.0051,1KG_SAS_AF,COL9A2
3445,1:40769000:G>C,NM_001852.3:c.1549-143C>G,\N,\N,28/31,Unknown significance,\N,intron_variant,1.457,\N,\N,COL9A2
3446,1:40769019:C>G,NM_001852.3:c.1549-162G>C,\N,\N,28/31,Unknown significance,\N,intron_variant,3.73,\N,\N,COL9A2
3447,1:40769020:T>C,NM_001852.3:c.1549-163A>G,\N,\N,28/31,Unknown significance,\N,intron_variant,2.138,0.001,1KG_SAS_AF,COL9A2
3448,1:40769040:T>A,NM_001852.3:c.1548+162A>T,\N,\N,28/31,Unknown significance,\N,intron_variant,6.511,\N,\N,COL9A2
3449,1:40769047:G>A,NM_001852.3:c.1548+155C>T,\N,\N,28/31,Benign,\N,intron_variant,1.759,0.0325,1KG_AFR_AF,COL9A2
3450,1:40769048:G>A,NM_001852.3:c.1548+154C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,4.652,0.0014,1KG_AMR_AF,COL9A2
3451,1:40769070:C>T,NM_001852.3:c.1548+132G>A,\N,\N,28/31,Unknown significance,\N,intron_variant,8.397,0.0015,1KG_AFR_AF,COL9A2
3452,1:40769072:G>A,NM_001852.3:c.1548+130C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,5.925,0.0008,1KG_AFR_AF,COL9A2
3453,1:40769095:C>A,NM_001852.3:c.1548+107G>T,\N,\N,28/31,Unknown significance,\N,intron_variant,2.077,0.002,1KG_EAS_AF,COL9A2
3454,1:40769108:G>T,NM_001852.3:c.1548+94C>A,\N,\N,28/31,Unknown significance,\N,intron_variant,2.628,0.002,1KG_EAS_AF,COL9A2
3455,1:40769109:A>T,NM_001852.3:c.1548+93T>A,\N,\N,28/31,Unknown significance,\N,intron_variant,0.816,0.002,1KG_EAS_AF,COL9A2
3456,1:40769116:G>A,NM_001852.3:c.1548+86C>T,\N,\N,28/31,Benign,\N,intron_variant,4.95,0.0091,1KG_AFR_AF,COL9A2
3457,1:40769144:C>A,NM_001852.3:c.1548+58G>T,\N,\N,28/31,Unknown significance,\N,intron_variant,4.601,\N,\N,COL9A2
3458,1:40769150:C>G,NM_001852.3:c.1548+52G>C,\N,\N,28/31,Benign,\N,intron_variant,6.165,0.0112,1KG_SAS_AF,COL9A2
3459,1:40769158:G>C,NM_001852.3:c.1548+44C>G,\N,\N,28/31,Unknown significance,\N,intron_variant,5.75,0.00011798,EVS_EA_AF,COL9A2
3460,1:40769172:A>C,NM_001852.3:c.1548+30T>G,\N,\N,28/31,Unknown significance,\N,intron_variant,2.628,0.000033071,EXAC_NFE_AF,COL9A2
3461,1:40769174:G>C,NM_001852.3:c.1548+28C>G,\N,\N,28/31,Unknown significance,\N,intron_variant,2.396,0.0000165355,EXAC_NFE_AF,COL9A2
3462,1:40769174:G>T,NM_001852.3:c.1548+28C>A,\N,\N,28/31,Benign,\N,intron_variant,3.47,0.2057,1KG_AFR_AF,COL9A2
3463,1:40769175:C>A,NM_001852.3:c.1548+27G>T,\N,\N,28/31,Unknown significance,\N,intron_variant,8.208,0.0000631872,EXAC_SAS_AF,COL9A2
3464,1:40769178:C>T,NM_001852.3:c.1548+24G>A,\N,\N,28/31,Unknown significance,\N,intron_variant,6.629,0.0000912575,EXAC_AMR_AF,COL9A2
3465,1:40769181:C>G,NM_001852.3:c.1548+21G>C,\N,\N,28/31,Unknown significance,\N,intron_variant,2.639,0.000759013,EXAC_SAS_AF,COL9A2
3466,1:40769184:C>T,NM_001852.3:c.1548+18G>A,\N,\N,28/31,Unknown significance,\N,intron_variant,8.385,0.000016587,EXAC_NFE_AF,COL9A2
3467,1:40769185:C>G,NM_001852.3:c.1548+17G>C,\N,\N,28/31,Benign,\N,intron_variant,7.446,0.0838,1KG_SAS_AF,COL9A2
3468,1:40769188:G>A,NM_001852.3:c.1548+14C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,7.542,0.0029,1KG_AMR_AF,COL9A2
3469,1:40769191:G>A,NM_001852.3:c.1548+11C>T,\N,\N,28/31,Unknown significance,\N,intron_variant,6.899,0.001,1KG_EAS_AF,COL9A2
3470,1:40769192:C>T,NM_001852.3:c.1548+10G>A,\N,\N,28/31,Unknown significance,\N,intron_variant,6.922,0.000122041,EXAC_EAS_AF,COL9A2
3471,1:40769194:C>T,NM_001852.3:c.1548+8G>A,\N,\N,28/31,Unknown significance,\N,splice_region_variant&intron_variant,8.416,0.000122429,EXAC_EAS_AF,COL9A2
3472,1:40769196:A>C,NM_001852.3:c.1548+6T>G,\N,\N,28/31,Unknown significance,\N,splice_region_variant&intron_variant,9.64,0.0000166856,EXAC_NFE_AF,COL9A2
3473,1:40769208:G>A,NM_001852.3:c.1542C>T,NP_001843.1:p.Gly514=,28/32,\N,Unknown significance,\N,synonymous_variant,11.04,\N,\N,COL9A2
3474,1:40769220:G>A,NM_001852.3:c.1530C>T,NP_001843.1:p.Pro510=,28/32,\N,Unknown significance,\N,synonymous_variant,9.392,0.000229043,EVS_AA_AF,COL9A2
3475,1:40769220:G>T,NM_001852.3:c.1530C>A,NP_001843.1:p.Pro510=,28/32,\N,Unknown significance,\N,synonymous_variant,7.364,\N,\N,COL9A2
3476,1:40769235:G>A,NM_001852.3:c.1515C>T,NP_001843.1:p.Gly505=,28/32,\N,Unknown significance,\N,synonymous_variant,9.76,\N,\N,COL9A2
3477,1:40769236:C>T,NM_001852.3:c.1514G>A,NP_001843.1:p.Gly505Asp,28/32,\N,Unknown significance,\N,missense_variant,25.6,0.0000189861,EXAC_NFE_AF,COL9A2
3478,1:40769240:G>T,NM_001852.3:c.1510C>A,NP_001843.1:p.Arg504=,28/32,\N,Unknown significance,\N,synonymous_variant,7.712,0.000848416,EXAC_EAS_AF,COL9A2
3479,1:40769244:C>A,NM_001852.3:c.1506G>T,NP_001843.1:p.Gly502=,28/32,\N,Unknown significance,\N,synonymous_variant,9.775,0.000111682,EXAC_AMR_AF,COL9A2
3480,1:40769247:G>C,NM_001852.3:c.1503C>G,NP_001843.1:p.Ala501=,28/32,\N,Unknown significance,\N,synonymous_variant,1.308,0.000911577,EXAC_AMR_AF,COL9A2
3481,1:40769247:G>T,NM_001852.3:c.1503C>A,NP_001843.1:p.Ala501=,28/32,\N,Unknown significance,\N,synonymous_variant,1.816,0.001,1KG_EAS_AF,COL9A2
3482,1:40769249:C>T,NM_001852.3:c.1501G>A,NP_001843.1:p.Ala501Thr,28/32,\N,Likely benign,\N,missense_variant,15.05,0.000258665,EXAC_FIN_AF,COL9A2
3483,1:40769250:C>G,NM_001852.3:c.1500G>C,NP_001843.1:p.Leu500=,28/32,\N,Unknown significance,\N,synonymous_variant,5.461,0.0000209319,EXAC_NFE_AF,COL9A2
3484,1:40769264:C>CG,NM_001852.3:c.1485dup,NP_001843.1:p.Gly496ArgfsTer27,28/32,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,COL9A2
3485,1:40769264:CG>C,NM_001852.3:c.1485del,NP_001843.1:p.Gly496AlafsTer35,28/32,\N,Unknown significance,\N,frameshift_variant,17.8,\N,\N,COL9A2
3486,1:40769265:G>A,NM_001852.3:c.1485C>T,NP_001843.1:p.Pro495=,28/32,\N,Unknown significance,\N,synonymous_variant,8.788,0.0000521159,EXAC_NFE_AF,COL9A2
3487,1:40769270:G>A,NM_001852.3:c.1480C>T,NP_001843.1:p.Pro494Ser,28/32,\N,Benign,\N,missense_variant,3.893,0.0068,1KG_AFR_AF,COL9A2
3488,1:40769274:A>G,NM_001852.3:c.1476T>C,NP_001843.1:p.Pro492=,28/32,\N,Unknown significance,\N,synonymous_variant,0.33,0.001,1KG_EAS_AF,COL9A2
3489,1:40769297:C>T,NM_001852.3:c.1453G>A,NP_001843.1:p.Ala485Thr,28/32,\N,Unknown significance,\N,missense_variant,22.4,0.000288018,EXAC_SAS_AF,COL9A2
3490,1:40769303:C>T,NM_001852.3:c.1447G>A,NP_001843.1:p.Ala483Thr,28/32,\N,Unknown significance,\N,missense_variant,25.5,0.000298626,EXAC_SAS_AF,COL9A2
3491,1:40769318:C>A,NM_001852.3:c.1432G>T,NP_001843.1:p.Gly478Cys,28/32,\N,Unknown significance,\N,missense_variant,29,0.0000558659,EXAC_NFE_AF,COL9A2
3492,1:40769318:C>T,NM_001852.3:c.1432G>A,NP_001843.1:p.Gly478Ser,28/32,\N,Unknown significance,\N,missense_variant,28.6,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
3493,1:40769322:G>T,NM_001852.3:c.1428C>A,NP_001843.1:p.Tyr476Ter,28/32,\N,Unknown significance,\N,stop_gained,37,0.000446828,EXAC_EAS_AF,COL9A2
3494,1:40769327:C>T,NM_001852.3:c.1423G>A,NP_001843.1:p.Gly475Ser,28/32,\N,Unknown significance,\N,missense_variant,32,0.0014,1KG_AMR_AF,COL9A2
3495,1:40769329:G>A,NM_001852.3:c.1421C>T,NP_001843.1:p.Pro474Leu,28/32,\N,Likely benign,\N,missense_variant,4.144,0.00114811,EXAC_AFR_AF,COL9A2
3496,1:40769333:C>T,NM_001852.3:c.1417G>A,NP_001843.1:p.Glu473Lys,28/32,\N,Unknown significance,\N,missense_variant,29.9,0.00011558,EXAC_SAS_AF,COL9A2
3497,1:40769335:C>T,NM_001852.3:c.1415G>A,NP_001843.1:p.Gly472Glu,28/32,\N,Unknown significance,\N,missense_variant,27.5,0.000115607,EXAC_SAS_AF,COL9A2
3498,1:40769395:G>A,NM_001852.3:c.1402-47C>T,\N,\N,27/31,Unknown significance,\N,intron_variant,6.226,0.00050813,EXAC_NFE_AF,COL9A2
3499,1:40769396:G>C,NM_001852.3:c.1402-48C>G,\N,\N,27/31,Unknown significance,\N,intron_variant,0.95,\N,\N,COL9A2
3500,1:40769397:G>A,NM_001852.3:c.1402-49C>T,\N,\N,27/31,Unknown significance,\N,intron_variant,2.919,0.000257998,EXAC_NFE_AF,COL9A2
3501,1:40769409:G>T,NM_001852.3:c.1402-61C>A,\N,\N,27/31,Benign,\N,intron_variant,6.103,0.1346,1KG_AFR_AF,COL9A2
3502,1:40769425:G>GGAAGGGAGTGGGGCCGGGA,NM_001852.3:c.1401+53_1401+54insTCCCGGCCCCACTCCCTTC,\N,\N,27/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3503,1:40769431:G>A,NM_001852.3:c.1401+48C>T,\N,\N,27/31,Unknown significance,\N,intron_variant,4.026,0.00075643,EXAC_EAS_AF,COL9A2
3504,1:40769434:T>G,NM_001852.3:c.1401+45A>C,\N,\N,27/31,Benign,\N,intron_variant,1.021,0.0866733,EVS_AA_AF,COL9A2
3505,1:40769434:T>TGGGGCCGGGAGAAGGGAGG,NM_001852.3:c.1401+44_1401+45insCCTCCCTTCTCCCGGCCCC,\N,\N,27/31,Unknown significance,\N,intron_variant,3.472,\N,\N,COL9A2
3506,1:40769434:T>TGGGGCCGGGAGCAGGGAGG,NM_001852.3:c.1401+44_1401+45insCCTCCCTGCTCCCGGCCCC,\N,\N,27/31,Unknown significance,\N,intron_variant,3.472,\N,\N,COL9A2
3507,1:40769434:T>TTGGGCCGGGAGAAGGGAGG,NM_001852.3:c.1401+44_1401+45insCCTCCCTTCTCCCGGCCCA,\N,\N,27/31,Unknown significance,\N,intron_variant,3.472,\N,\N,COL9A2
3508,1:40769436:G>GGGCCGGGAGAAGGGAGGGA,NM_001852.3:c.1401+42_1401+43insTCCCTCCCTTCTCCCGGCC,\N,\N,27/31,Unknown significance,\N,intron_variant,0.685,\N,\N,COL9A2
3509,1:40769439:GCCCA>G,NM_001852.3:c.1401+36_1401+39del,\N,\N,27/31,Unknown significance,\N,intron_variant,8.089,\N,\N,COL9A2
3510,1:40769461:C>A,NM_001852.3:c.1401+18G>T,\N,\N,27/31,Unknown significance,\N,intron_variant,0.534,0.000127649,EXAC_NFE_AF,COL9A2
3511,1:40769461:C>T,NM_001852.3:c.1401+18G>A,\N,\N,27/31,Unknown significance,\N,intron_variant,0.471,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
3512,1:40769472:G>T,NM_001852.3:c.1401+7C>A,\N,\N,27/31,Unknown significance,\N,splice_region_variant&intron_variant,7.304,\N,\N,COL9A2
3513,1:40769480:T>C,NM_001852.3:c.1400A>G,NP_001843.1:p.Gln467Arg,27/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,20.9,0.00235664,EXAC_NFE_AF,COL9A2
3514,1:40769494:C>T,NM_001852.3:c.1386G>A,NP_001843.1:p.Pro462=,27/32,\N,Unknown significance,\N,synonymous_variant,17.69,\N,\N,COL9A2
3515,1:40769500:G>A,NM_001852.3:c.1380C>T,NP_001843.1:p.Gly460=,27/32,\N,Unknown significance,\N,synonymous_variant,15.76,0.000984252,EXAC_EAS_AF,COL9A2
3516,1:40769513:T>G,NM_001852.3:c.1369-2A>C,\N,\N,26/31,Pathogenic,Lumbar stenosis,splice_acceptor_variant,24.6,\N,\N,COL9A2
3517,1:40769519:C>T,NM_001852.3:c.1369-8G>A,\N,\N,26/31,Unknown significance,\N,splice_region_variant&intron_variant,5.9,0.00243309,EXAC_EAS_AF,COL9A2
3518,1:40769521:C>G,NM_001852.3:c.1369-10G>C,\N,\N,26/31,Unknown significance,\N,intron_variant,4.969,0.000254647,EXAC_SAS_AF,COL9A2
3519,1:40769525:G>C,NM_001852.3:c.1369-14C>G,\N,\N,26/31,Unknown significance,\N,intron_variant,2.794,\N,\N,COL9A2
3520,1:40769532:G>A,NM_001852.3:c.1369-21C>T,\N,\N,26/31,Unknown significance,\N,intron_variant,8.306,\N,\N,COL9A2
3521,1:40769532:G>T,NM_001852.3:c.1369-21C>A,\N,\N,26/31,Unknown significance,\N,intron_variant,7.084,0.00094518,EXAC_AFR_AF,COL9A2
3522,1:40769533:G>A,NM_001852.3:c.1369-22C>T,\N,\N,26/31,Unknown significance,\N,intron_variant,8.592,0.000952381,EXAC_AFR_AF,COL9A2
3523,1:40769538:G>C,NM_001852.3:c.1369-27C>G,\N,\N,26/31,Unknown significance,\N,intron_variant,0.252,\N,\N,COL9A2
3524,1:40769543:C>G,NM_001852.3:c.1369-32G>C,\N,\N,26/31,Unknown significance,\N,intron_variant,6.034,\N,\N,COL9A2
3525,1:40769549:G>A,NM_001852.3:c.1369-38C>T,\N,\N,26/31,Unknown significance,\N,intron_variant,6.454,0.00132275,EXAC_AFR_AF,COL9A2
3526,1:40769551:C>T,NM_001852.3:c.1369-40G>A,\N,\N,26/31,Benign,\N,intron_variant,8.304,0.00655903,EXAC_NFE_AF,COL9A2
3527,1:40769584:T>C,NM_001852.3:c.1368+16A>G,\N,\N,26/31,Benign,\N,intron_variant,3.098,0.196721,EXAC_AFR_AF,COL9A2
3528,1:40769586:G>A,NM_001852.3:c.1368+14C>T,\N,\N,26/31,Unknown significance,\N,intron_variant,4.665,0.002,1KG_SAS_AF,COL9A2
3529,1:40769588:C>T,NM_001852.3:c.1368+12G>A,\N,\N,26/31,Benign,\N,intron_variant,6.421,0.285714,EXAC_FIN_AF,COL9A2
3530,1:40769593:C>T,NM_001852.3:c.1368+7G>A,\N,\N,26/31,Unknown significance,\N,splice_region_variant&intron_variant,10.5,\N,\N,COL9A2
3531,1:40769599:C>T,NM_001852.3:c.1368+1G>A,\N,\N,26/31,Unknown significance,\N,splice_donor_variant,26.3,0.000128238,EXAC_SAS_AF,COL9A2
3532,1:40769603:C>T,NM_001852.3:c.1365G>A,NP_001843.1:p.Glu455=,26/32,\N,Unknown significance,\N,synonymous_variant,15.38,\N,\N,COL9A2
3533,1:40769608:CTT>C,NM_001852.3:c.1358_1359del,NP_001843.1:p.Lys453ArgfsTer69,26/32,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,COL9A2
3534,1:40769623:G>A,NM_001852.3:c.1345C>T,NP_001843.1:p.Leu449Phe,26/32,\N,Unknown significance,\N,missense_variant,23.7,\N,\N,COL9A2
3535,1:40769639:G>A,NM_001852.3:c.1329C>T,NP_001843.1:p.Asp443=,26/32,\N,Unknown significance,\N,synonymous_variant,8.508,\N,\N,COL9A2
3536,1:40769647:G>T,NM_001852.3:c.1324-3C>A,\N,\N,25/31,Unknown significance,\N,splice_region_variant&intron_variant,12.4,0.0021097,EXAC_AMR_AF,COL9A2
3537,1:40769648:C>T,NM_001852.3:c.1324-4G>A,\N,\N,25/31,Unknown significance,\N,splice_region_variant&intron_variant,12.64,0.00214592,EXAC_AMR_AF,COL9A2
3538,1:40769652:G>C,NM_001852.3:c.1324-8C>G,\N,\N,25/31,Unknown significance,\N,splice_region_variant&intron_variant,4.626,0.000510204,EXAC_AFR_AF,COL9A2
3539,1:40769667:G>A,NM_001852.3:c.1324-23C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,5.891,\N,\N,COL9A2
3540,1:40769669:C>G,NM_001852.3:c.1324-25G>C,\N,\N,25/31,Unknown significance,\N,intron_variant,7.199,\N,\N,COL9A2
3541,1:40769675:G>A,NM_001852.3:c.1324-31C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,4.96,0.000103993,EXAC_NFE_AF,COL9A2
3542,1:40769680:G>A,NM_001852.3:c.1324-36C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,5.371,0.000230947,EVS_AA_AF,COL9A2
3543,1:40769682:C>T,NM_001852.3:c.1324-38G>A,\N,\N,25/31,Unknown significance,\N,intron_variant,7.528,0.000122309,EXAC_SAS_AF,COL9A2
3544,1:40769684:G>A,NM_001852.3:c.1324-40C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,5.527,0.0000994431,EXAC_NFE_AF,COL9A2
3545,1:40769689:G>A,NM_001852.3:c.1324-45C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,6.318,0.00012207,EXAC_SAS_AF,COL9A2
3546,1:40769690:C>T,NM_001852.3:c.1323+46G>A,\N,\N,25/31,Unknown significance,\N,intron_variant,1.238,0.000121951,EXAC_SAS_AF,COL9A2
3547,1:40769699:G>A,NM_001852.3:c.1323+37C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,3.497,\N,\N,COL9A2
3548,1:40769703:G>C,NM_001852.3:c.1323+33C>G,\N,\N,25/31,Unknown significance,\N,intron_variant,1.103,0.000719942,EXAC_AFR_AF,COL9A2
3549,1:40769705:G>A,NM_001852.3:c.1323+31C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,4.619,0.001,1KG_EUR_AF,COL9A2
3550,1:40769712:G>A,NM_001852.3:c.1323+24C>T,\N,\N,25/31,Benign,\N,intron_variant,4.164,0.0731707,EXAC_FIN_AF,COL9A2
3551,1:40769713:G>A,NM_001852.3:c.1323+23C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,4.041,0.000343643,EXAC_AFR_AF,COL9A2
3552,1:40769718:A>C,NM_001852.3:c.1323+18T>G,\N,\N,25/31,Benign,\N,intron_variant,0.311,0.0182,1KG_AFR_AF,COL9A2
3553,1:40769718:A>G,NM_001852.3:c.1323+18T>C,\N,\N,25/31,Unknown significance,\N,intron_variant,0.999,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
3554,1:40769722:G>T,NM_001852.3:c.1323+14C>A,\N,\N,25/31,Unknown significance,\N,intron_variant,6.985,0.002,1KG_SAS_AF,COL9A2
3555,1:40769724:G>A,NM_001852.3:c.1323+12C>T,\N,\N,25/31,Unknown significance,\N,intron_variant,8.537,0.0000754945,EXAC_NFE_AF,COL9A2
3556,1:40769726:T>A,NM_001852.3:c.1323+10A>T,\N,\N,25/31,Unknown significance,\N,intron_variant,12.47,0.000074549,EXAC_NFE_AF,COL9A2
3557,1:40769729:A>C,NM_001852.3:c.1323+7T>G,\N,\N,25/31,Unknown significance,\N,splice_region_variant&intron_variant,7.467,0.000074129,EXAC_NFE_AF,COL9A2
3558,1:40769744:C>T,NM_001852.3:c.1315G>A,NP_001843.1:p.Gly439Ser,25/32,\N,Unknown significance,\N,missense_variant,33,0.0000773874,EXAC_NFE_AF,COL9A2
3559,1:40769746:C>T,NM_001852.3:c.1313G>A,NP_001843.1:p.Arg438His,25/32,\N,Unknown significance,\N,missense_variant,33,\N,\N,COL9A2
3560,1:40769749:G>C,NM_001852.3:c.1310C>G,NP_001843.1:p.Pro437Arg,25/32,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,COL9A2
3561,1:40769751:C>G,NM_001852.3:c.1308G>C,NP_001843.1:p.Gly436=,25/32,\N,Unknown significance,\N,synonymous_variant,12.26,\N,\N,COL9A2
3562,1:40769770:C>T,NM_001852.3:c.1289G>A,NP_001843.1:p.Gly430Asp,25/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,0.000137325,EXAC_SAS_AF,COL9A2
3563,1:40769783:G>A,NM_001852.3:c.1288-12C>T,\N,\N,24/31,Benign,\N,intron_variant,1.01,0.285997,EXAC_EAS_AF,COL9A2
3564,1:40769785:G>C,NM_001852.3:c.1288-14C>G,\N,\N,24/31,Unknown significance,\N,intron_variant,0.386,0.000437828,EXAC_AFR_AF,COL9A2
3565,1:40769788:G>C,NM_001852.3:c.1288-17C>G,\N,\N,24/31,Unknown significance,\N,intron_variant,0.732,\N,\N,COL9A2
3566,1:40769808:C>T,NM_001852.3:c.1288-37G>A,\N,\N,24/31,Benign,\N,intron_variant,6.022,0.0107143,EXAC_AMR_AF,COL9A2
3567,1:40769810:C>G,NM_001852.3:c.1288-39G>C,\N,\N,24/31,Unknown significance,\N,intron_variant,4.228,\N,\N,COL9A2
3568,1:40769811:C>A,NM_001852.3:c.1288-40G>T,\N,\N,24/31,Unknown significance,\N,intron_variant,3.161,\N,\N,COL9A2
3569,1:40769813:T>G,NM_001852.3:c.1288-42A>C,\N,\N,24/31,Unknown significance,\N,intron_variant,2.632,0.000563698,EXAC_AFR_AF,COL9A2
3570,1:40769821:G>T,NM_001852.3:c.1288-50C>A,\N,\N,24/31,Unknown significance,\N,intron_variant,4.232,0.001,1KG_EAS_AF,COL9A2
3571,1:40769828:A>T,NM_001852.3:c.1288-57T>A,\N,\N,24/31,Unknown significance,\N,intron_variant,10.16,0.003,1KG_AFR_AF,COL9A2
3572,1:40769870:C>T,NM_001852.3:c.1288-99G>A,\N,\N,24/31,Unknown significance,\N,intron_variant,17.34,0.001,1KG_EUR_AF,COL9A2
3573,1:40769901:T>G,NM_001852.3:c.1287+91A>C,\N,\N,24/31,Unknown significance,\N,intron_variant,7.655,0.0015,1KG_AFR_AF,COL9A2
3574,1:40769910:C>T,NM_001852.3:c.1287+82G>A,\N,\N,24/31,Benign,\N,intron_variant,8.575,0.1377,1KG_AFR_AF,COL9A2
3575,1:40769912:G>T,NM_001852.3:c.1287+80C>A,\N,\N,24/31,Unknown significance,\N,intron_variant,1.112,\N,\N,COL9A2
3576,1:40769943:C>G,NM_001852.3:c.1287+49G>C,\N,\N,24/31,Unknown significance,\N,intron_variant,5.192,\N,\N,COL9A2
3577,1:40769944:CCT>C,NM_001852.3:c.1287+46_1287+47del,\N,\N,24/31,Unknown significance,\N,intron_variant,5.876,\N,\N,COL9A2
3578,1:40769955:G>T,NM_001852.3:c.1287+37C>A,\N,\N,24/31,Unknown significance,\N,intron_variant,5.157,\N,\N,COL9A2
3579,1:40769959:C>T,NM_001852.3:c.1287+33G>A,\N,\N,24/31,Unknown significance,\N,intron_variant,4.238,0.003,1KG_EAS_AF,COL9A2
3580,1:40769959:CTTTCCCAGGTG>C,NM_001852.3:c.1287+22_1287+32del,\N,\N,24/31,Unknown significance,\N,intron_variant,10.22,\N,\N,COL9A2
3581,1:40769978:G>A,NM_001852.3:c.1287+14C>T,\N,\N,24/31,Unknown significance,\N,intron_variant,5.124,0.000125628,EXAC_SAS_AF,COL9A2
3582,1:40769978:G>T,NM_001852.3:c.1287+14C>A,\N,\N,24/31,Unknown significance,\N,intron_variant,3.146,0.0021097,EXAC_AMR_AF,COL9A2
3583,1:40769997:C>G,NM_001852.3:c.1282G>C,NP_001843.1:p.Asp428His,24/32,\N,Unknown significance,\N,missense_variant,23.6,0.000117481,EVS_EA_AF,COL9A2
3584,1:40770003:T>C,NM_001852.3:c.1276A>G,NP_001843.1:p.Lys426Glu,24/32,\N,Unknown significance,\N,missense_variant,24,\N,\N,COL9A2
3585,1:40770006:C>G,NM_001852.3:c.1273G>C,NP_001843.1:p.Val425Leu,24/32,\N,Unknown significance,\N,missense_variant,10.74,0.0000930406,EXAC_NFE_AF,COL9A2
3586,1:40770006:C>T,NM_001852.3:c.1273G>A,NP_001843.1:p.Val425Ile,24/32,\N,Likely benign,\N,missense_variant,14.15,0.000186081,EXAC_NFE_AF,COL9A2
3587,1:40770007:G>T,NM_001852.3:c.1272C>A,NP_001843.1:p.Gly424=,24/32,\N,Unknown significance,\N,synonymous_variant,7.741,\N,\N,COL9A2
3588,1:40770017:C>A,NM_001852.3:c.1262G>T,NP_001843.1:p.Gly421Val,24/32,\N,Unknown significance,\N,missense_variant,34,0.000120366,EXAC_SAS_AF,COL9A2
3589,1:40770025:C>T,NM_001852.3:c.1254G>A,NP_001843.1:p.Gly418=,24/32,\N,Unknown significance,\N,synonymous_variant,16.7,\N,\N,COL9A2
3590,1:40770029:G>A,NM_001852.3:c.1250C>T,NP_001843.1:p.Pro417Leu,24/32,\N,Unknown significance,\N,missense_variant,33,0.0000714592,EXAC_NFE_AF,COL9A2
3591,1:40770036:C>CG,NM_001852.3:c.1242dup,NP_001843.1:p.Gly415ArgfsTer29,24/32,\N,Unknown significance,\N,frameshift_variant,35,0.00075508,EXAC_NFE_AF,COL9A2
3592,1:40770036:CG>C,NM_001852.3:c.1242del,NP_001843.1:p.Gly415GlufsTer116,24/32,\N,Unknown significance,\N,frameshift_variant,18.97,0.00177936,EXAC_FIN_AF,COL9A2
3593,1:40770042:G>A,NM_001852.3:c.1237C>T,NP_001843.1:p.Pro413Ser,24/32,\N,Likely benign,\N,missense_variant,7.34,0.00481928,EXAC_EAS_AF,COL9A2
3594,1:40770043:G>T,NM_001852.3:c.1236C>A,NP_001843.1:p.Gly412=,24/32,\N,Unknown significance,\N,synonymous_variant,3.409,0.0000555432,EXAC_NFE_AF,COL9A2
3595,1:40770046:C>A,NM_001852.3:c.1233G>T,NP_001843.1:p.Gln411His,24/32,\N,Unknown significance,\N,missense_variant,23.7,0.0000529045,EXAC_NFE_AF,COL9A2
3596,1:40770047:T>C,NM_001852.3:c.1232A>G,NP_001843.1:p.Gln411Arg,24/32,\N,Unknown significance,\N,missense_variant,10.71,0.001,1KG_EUR_AF,COL9A2
3597,1:40770055:C>A,NM_001852.3:c.1224G>T,NP_001843.1:p.Lys408Asn,24/32,\N,Unknown significance,\N,missense_variant,24.6,0.000319489,EXAC_EAS_AF,COL9A2
3598,1:40770055:C>T,NM_001852.3:c.1224G>A,NP_001843.1:p.Lys408=,24/32,\N,Unknown significance,\N,synonymous_variant,14.69,0.000220848,EXAC_AFR_AF,COL9A2
3599,1:40770056:T>C,NM_001852.3:c.1223A>G,NP_001843.1:p.Lys408Arg,24/32,\N,Unknown significance,\N,missense_variant,24.1,0.000311526,EXAC_EAS_AF,COL9A2
3600,1:40770058:A>T,NM_001852.3:c.1221T>A,NP_001843.1:p.Pro407=,24/32,\N,Unknown significance,\N,synonymous_variant,0.211,0.0000439406,EXAC_NFE_AF,COL9A2
3601,1:40770060:G>T,NM_001852.3:c.1219C>A,NP_001843.1:p.Pro407Thr,24/32,\N,Likely benign,\N,missense_variant,23.2,0.001,1KG_EUR_AF,COL9A2
3602,1:40770061:G>A,NM_001852.3:c.1218C>T,NP_001843.1:p.Gly406=,24/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.93,0.000124039,EXAC_NFE_AF,COL9A2
3603,1:40770068:G>A,NM_001852.3:c.1216-5C>T,\N,\N,23/31,Unknown significance,\N,splice_region_variant&intron_variant,9.641,0.000116306,EVS_EA_AF,COL9A2
3604,1:40770069:GAGA>G,NM_001852.3:c.1216-9_1216-7del,\N,\N,23/31,Unknown significance,\N,splice_region_variant&intron_variant,8.897,0.000189286,EXAC_SAS_AF,COL9A2
3605,1:40770070:A>T,NM_001852.3:c.1216-7T>A,\N,\N,23/31,Unknown significance,\N,splice_region_variant&intron_variant,8.442,\N,\N,COL9A2
3606,1:40770074:A>G,NM_001852.3:c.1216-11T>C,\N,\N,23/31,Unknown significance,\N,intron_variant,11.75,0.000220361,EXAC_EAS_AF,COL9A2
3607,1:40770076:G>T,NM_001852.3:c.1216-13C>A,\N,\N,23/31,Unknown significance,\N,intron_variant,1.026,0.001,1KG_EAS_AF,COL9A2
3608,1:40770093:T>G,NM_001852.3:c.1216-30A>C,\N,\N,23/31,Unknown significance,\N,intron_variant,6.881,0.0000416164,EXAC_NFE_AF,COL9A2
3609,1:40770096:A>G,NM_001852.3:c.1216-33T>C,\N,\N,23/31,Unknown significance,\N,intron_variant,6.016,0.000116279,EVS_EA_AF,COL9A2
3610,1:40770097:A>G,NM_001852.3:c.1216-34T>C,\N,\N,23/31,Benign,\N,intron_variant,3.045,0.012219,EXAC_AFR_AF,COL9A2
3611,1:40770102:G>A,NM_001852.3:c.1216-39C>T,\N,\N,23/31,Unknown significance,\N,intron_variant,5.964,0.000113636,EXAC_AMR_AF,COL9A2
3612,1:40770103:G>A,NM_001852.3:c.1216-40C>T,\N,\N,23/31,Unknown significance,\N,intron_variant,1.531,0.000136166,EXAC_EAS_AF,COL9A2
3613,1:40770110:A>G,NM_001852.3:c.1215+38T>C,\N,\N,23/31,Unknown significance,\N,intron_variant,5.829,0.0000331126,EXAC_NFE_AF,COL9A2
3614,1:40770116:C>T,NM_001852.3:c.1215+32G>A,\N,\N,23/31,Unknown significance,\N,intron_variant,2.126,0.000232558,EVS_EA_AF,COL9A2
3615,1:40770117:G>A,NM_001852.3:c.1215+31C>T,\N,\N,23/31,Unknown significance,\N,intron_variant,2.801,0.00429953,EXAC_FIN_AF,COL9A2
3616,1:40770119:C>T,NM_001852.3:c.1215+29G>A,\N,\N,23/31,Unknown significance,\N,intron_variant,7.059,0.000130174,EXAC_SAS_AF,COL9A2
3617,1:40770122:G>A,NM_001852.3:c.1215+26C>T,\N,\N,23/31,Unknown significance,\N,intron_variant,2.489,0.00012865,EXAC_SAS_AF,COL9A2
3618,1:40770125:C>T,NM_001852.3:c.1215+23G>A,\N,\N,23/31,Unknown significance,\N,intron_variant,4.243,0.0000909422,EXAC_AMR_AF,COL9A2
3619,1:40770163:G>T,NM_001852.3:c.1200C>A,NP_001843.1:p.Gly400=,23/32,\N,Unknown significance,\N,synonymous_variant,7.854,0.0000873057,EXAC_AMR_AF,COL9A2
3620,1:40770175:C>T,NM_001852.3:c.1188G>A,NP_001843.1:p.Val396=,23/32,\N,Unknown significance,\N,synonymous_variant,14.92,0.00111607,EXAC_OTH_AF,COL9A2
3621,1:40770177:C>A,NM_001852.3:c.1186G>T,NP_001843.1:p.Val396Leu,23/32,\N,Unknown significance,\N,missense_variant,22.6,0.000015053,EXAC_NFE_AF,COL9A2
3622,1:40770190:G>A,NM_001852.3:c.1173C>T,NP_001843.1:p.Gly391=,23/32,\N,Unknown significance,\N,synonymous_variant,15.12,0.001,1KG_EAS_AF,COL9A2
3623,1:40770192:C>T,NM_001852.3:c.1171G>A,NP_001843.1:p.Gly391Ser,23/32,\N,Unknown significance,\N,missense_variant,34,\N,\N,COL9A2
3624,1:40770199:A>C,NM_001852.3:c.1164T>G,NP_001843.1:p.Gly388=,23/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.56,0.0000871384,EXAC_AMR_AF,COL9A2
3625,1:40770201:C>A,NM_001852.3:c.1162G>T,NP_001843.1:p.Gly388Cys,23/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,35,0.0000150575,EXAC_NFE_AF,COL9A2
3626,1:40770204:G>A,NM_001852.3:c.1162-3C>T,\N,\N,22/31,Unknown significance,\N,splice_region_variant&intron_variant,19.22,0.000465116,EVS_EA_AF,COL9A2
3627,1:40770208:T>C,NM_001852.3:c.1162-7A>G,\N,\N,22/31,Unknown significance,\N,splice_region_variant&intron_variant,11.62,0.001,1KG_SAS_AF,COL9A2
3628,1:40770211:A>C,NM_001852.3:c.1162-10T>G,\N,\N,22/31,Unknown significance,\N,intron_variant,12.4,0.000231642,EXAC_EAS_AF,COL9A2
3629,1:40770214:G>C,NM_001852.3:c.1162-13C>G,\N,\N,22/31,Unknown significance,\N,intron_variant,9.811,\N,\N,COL9A2
3630,1:40770214:GAGA>G,NM_001852.3:c.1162-16_1162-14del,\N,\N,22/31,Unknown significance,\N,intron_variant,12.61,0.000115821,EXAC_EAS_AF,COL9A2
3631,1:40770228:C>A,NM_001852.3:c.1162-27G>T,\N,\N,22/31,Unknown significance,\N,intron_variant,7.778,0.000122684,EXAC_SAS_AF,COL9A2
3632,1:40770228:C>T,NM_001852.3:c.1162-27G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,6.778,0.000232558,EVS_EA_AF,COL9A2
3633,1:40770230:C>T,NM_001852.3:c.1162-29G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,6.561,0.0000151112,EXAC_NFE_AF,COL9A2
3634,1:40770231:A>G,NM_001852.3:c.1162-30T>C,\N,\N,22/31,Unknown significance,\N,intron_variant,6.307,0.000226963,EVS_AA_AF,COL9A2
3635,1:40770238:C>G,NM_001852.3:c.1162-37G>C,\N,\N,22/31,Unknown significance,\N,intron_variant,0.899,\N,\N,COL9A2
3636,1:40770241:A>G,NM_001852.3:c.1162-40T>C,\N,\N,22/31,Unknown significance,\N,intron_variant,6.739,0.0000151291,EXAC_NFE_AF,COL9A2
3637,1:40770252:C>T,NM_001852.3:c.1162-51G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,6.679,0.0000457652,EXAC_NFE_AF,COL9A2
3638,1:40770253:C>A,NM_001852.3:c.1162-52G>T,\N,\N,22/31,Benign,\N,intron_variant,7.517,0.0129,1KG_AFR_AF,COL9A2
3639,1:40770258:G>A,NM_001852.3:c.1162-57C>T,\N,\N,22/31,Unknown significance,\N,intron_variant,1.321,0.0008,1KG_AFR_AF,COL9A2
3640,1:40770262:C>T,NM_001852.3:c.1162-61G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,4.504,0.001,1KG_SAS_AF,COL9A2
3641,1:40770370:G>T,NM_001852.3:c.1161+96C>A,\N,\N,22/31,Unknown significance,\N,intron_variant,14.2,0.0008,1KG_AFR_AF,COL9A2
3642,1:40770371:A>G,NM_001852.3:c.1161+95T>C,\N,\N,22/31,Unknown significance,\N,intron_variant,15.84,0.0008,1KG_AFR_AF,COL9A2
3643,1:40770380:AC>A,NM_001852.3:c.1161+85del,\N,\N,22/31,Unknown significance,\N,intron_variant,13.04,\N,\N,COL9A2
3644,1:40770381:C>T,NM_001852.3:c.1161+85G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,13.95,\N,\N,COL9A2
3645,1:40770401:C>A,NM_001852.3:c.1161+65G>T,\N,\N,22/31,Unknown significance,\N,intron_variant,5.407,0.0041,1KG_SAS_AF,COL9A2
3646,1:40770414:T>G,NM_001852.3:c.1161+52A>C,\N,\N,22/31,Unknown significance,\N,intron_variant,6.844,0.00149477,EVS_AA_AF,COL9A2
3647,1:40770424:C>T,NM_001852.3:c.1161+42G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,4.549,0.000235682,EXAC_NFE_AF,COL9A2
3648,1:40770425:G>A,NM_001852.3:c.1161+41C>T,\N,\N,22/31,Benign,\N,intron_variant,2.657,0.2466,1KG_AFR_AF,COL9A2
3649,1:40770431:G>C,NM_001852.3:c.1161+35C>G,\N,\N,22/31,Unknown significance,\N,intron_variant,0.996,\N,\N,COL9A2
3650,1:40770436:C>T,NM_001852.3:c.1161+30G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,1.226,0.00487805,EXAC_AMR_AF,COL9A2
3651,1:40770439:G>A,NM_001852.3:c.1161+27C>T,\N,\N,22/31,Unknown significance,\N,intron_variant,1.276,0.00318471,EXAC_EAS_AF,COL9A2
3652,1:40770447:C>T,NM_001852.3:c.1161+19G>A,\N,\N,22/31,Unknown significance,\N,intron_variant,6.326,\N,\N,COL9A2
3653,1:40770448:A>G,NM_001852.3:c.1161+18T>C,\N,\N,22/31,Unknown significance,\N,intron_variant,4.351,0.003,1KG_AFR_AF,COL9A2
3654,1:40770456:A>T,NM_001852.3:c.1161+10T>A,\N,\N,22/31,Benign,\N,intron_variant,13.03,0.0416667,EXAC_OTH_AF,COL9A2
3655,1:40770475:C>T,NM_001852.3:c.1152G>A,NP_001843.1:p.Met384Ile,22/32,\N,Likely benign,\N,missense_variant,17.6,0.000358166,EXAC_AFR_AF,COL9A2
3656,1:40770477:T>G,NM_001852.3:c.1150A>C,NP_001843.1:p.Met384Leu,22/32,\N,Benign,\N,missense_variant,10.92,0.0275197,EXAC_AFR_AF,COL9A2
3657,1:40770480:T>C,NM_001852.3:c.1147A>G,NP_001843.1:p.Ile383Val,22/32,\N,Unknown significance,\N,missense_variant,16.39,0.000262398,EXAC_SAS_AF,COL9A2
3658,1:40770489:G>T,NM_001852.3:c.1138C>A,NP_001843.1:p.Pro380Thr,22/32,\N,Unknown significance,\N,missense_variant,24.1,0.001,1KG_SAS_AF,COL9A2
3659,1:40770498:C>T,NM_001852.3:c.1129G>A,NP_001843.1:p.Glu377Lys,22/32,\N,Unknown significance,\N,missense_variant,34,0.0008,1KG_AFR_AF,COL9A2
3660,1:40770503:C>T,NM_001852.3:c.1124G>A,NP_001843.1:p.Arg375Gln,22/32,\N,Likely benign,\N,missense_variant,24.4,0.00246305,EXAC_AMR_AF,COL9A2
3661,1:40770504:G>C,NM_001852.3:c.1123C>G,NP_001843.1:p.Arg375Gly,22/32,\N,Unknown significance,\N,missense_variant,25.5,0.00127462,EXAC_NFE_AF,COL9A2
3662,1:40770515:T>C,NM_001852.3:c.1112A>G,NP_001843.1:p.Glu371Gly,22/32,\N,Unknown significance,\N,missense_variant,29.1,0.000261643,EXAC_SAS_AF,COL9A2
3663,1:40770522:G>A,NM_001852.3:c.1108-3C>T,\N,\N,21/31,Unknown significance,\N,splice_region_variant&intron_variant,14.74,\N,\N,COL9A2
3664,1:40770523:G>A,NM_001852.3:c.1108-4C>T,\N,\N,21/31,Unknown significance,\N,splice_region_variant&intron_variant,14.65,\N,\N,COL9A2
3665,1:40770532:G>C,NM_001852.3:c.1108-13C>G,\N,\N,21/31,Unknown significance,\N,intron_variant,13.98,0.000127,EVS_EA_AF,COL9A2
3666,1:40770536:T>C,NM_001852.3:c.1108-17A>G,\N,\N,21/31,Unknown significance,\N,intron_variant,1.635,0.0008,1KG_AFR_AF,COL9A2
3667,1:40770542:C>A,NM_001852.3:c.1108-23G>T,\N,\N,21/31,Unknown significance,\N,intron_variant,3.563,0.000132837,EXAC_SAS_AF,COL9A2
3668,1:40770548:G>A,NM_001852.3:c.1108-29C>T,\N,\N,21/31,Unknown significance,\N,intron_variant,3,\N,\N,COL9A2
3669,1:40770564:C>T,NM_001852.3:c.1108-45G>A,\N,\N,21/31,Benign,\N,intron_variant,6.691,0.0091,1KG_AFR_AF,COL9A2
3670,1:40770567:A>C,NM_001852.3:c.1108-48T>G,\N,\N,21/31,Benign,\N,intron_variant,5.627,0.0159,1KG_EAS_AF,COL9A2
3671,1:40770567:A>G,NM_001852.3:c.1108-48T>C,\N,\N,21/31,Unknown significance,\N,intron_variant,7.485,0.00320606,EXAC_NFE_AF,COL9A2
3672,1:40770604:T>C,NM_001852.3:c.1108-85A>G,\N,\N,21/31,Unknown significance,\N,intron_variant,3.997,\N,\N,COL9A2
3673,1:40770615:T>G,NM_001852.3:c.1108-96A>C,\N,\N,21/31,Unknown significance,\N,intron_variant,5.917,0.0008,1KG_AFR_AF,COL9A2
3674,1:40770645:C>T,NM_001852.3:c.1108-126G>A,\N,\N,21/31,Benign,\N,intron_variant,6.002,0.0086,1KG_AMR_AF,COL9A2
3675,1:40770652:C>T,NM_001852.3:c.1108-133G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,1.743,\N,\N,COL9A2
3676,1:40770666:C>T,NM_001852.3:c.1108-147G>A,\N,\N,21/31,Benign,\N,intron_variant,2.818,0.0091,1KG_AFR_AF,COL9A2
3677,1:40770721:ATTTC>A,NM_001852.3:c.1108-206_1108-203del,\N,\N,21/31,Unknown significance,\N,intron_variant,4.929,\N,\N,COL9A2
3678,1:40770725:CTTTC>A,NM_001852.3:c.1108-210_1108-206delinsT,\N,\N,21/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3679,1:40770730:TTTC>T,NM_001852.3:c.1108-214_1108-212del,\N,\N,21/31,Unknown significance,\N,intron_variant,2.135,\N,\N,COL9A2
3680,1:40770733:C>T,NM_001852.3:c.1108-214G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,0.385,\N,\N,COL9A2
3681,1:40770745:T>C,NM_001852.3:c.1108-226A>G,\N,\N,21/31,Unknown significance,\N,intron_variant,0.155,\N,\N,COL9A2
3682,1:40770748:T>C,NM_001852.3:c.1108-229A>G,\N,\N,21/31,Unknown significance,\N,intron_variant,0.17,\N,\N,COL9A2
3683,1:40770756:T>G,NM_001852.3:c.1108-237A>C,\N,\N,21/31,Unknown significance,\N,intron_variant,0.092,\N,\N,COL9A2
3684,1:40770758:G>T,NM_001852.3:c.1108-239C>A,\N,\N,21/31,Unknown significance,\N,intron_variant,0.528,\N,\N,COL9A2
3685,1:40770771:G>C,NM_001852.3:c.1108-252C>G,\N,\N,21/31,Unknown significance,\N,intron_variant,0.076,0.002,1KG_EUR_AF,COL9A2
3686,1:40770780:C>T,NM_001852.3:c.1108-261G>A,\N,\N,21/31,Benign,\N,intron_variant,3.449,0.2277,1KG_AFR_AF,COL9A2
3687,1:40770801:G>A,NM_001852.3:c.1108-282C>T,\N,\N,21/31,Unknown significance,\N,intron_variant,1.979,\N,\N,COL9A2
3688,1:40770802:C>T,NM_001852.3:c.1108-283G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,1.245,0.003,1KG_AFR_AF,COL9A2
3689,1:40770825:C>T,NM_001852.3:c.1108-306G>A,\N,\N,21/31,Benign,\N,intron_variant,2.739,0.0091,1KG_AFR_AF,COL9A2
3690,1:40770829:T>A,NM_001852.3:c.1108-310A>T,\N,\N,21/31,Unknown significance,\N,intron_variant,1.179,\N,\N,COL9A2
3691,1:40770832:C>T,NM_001852.3:c.1108-313G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,4.928,\N,\N,COL9A2
3692,1:40770834:G>C,NM_001852.3:c.1108-315C>G,\N,\N,21/31,Unknown significance,\N,intron_variant,0.17,0.0045,1KG_AFR_AF,COL9A2
3693,1:40770840:T>C,NM_001852.3:c.1108-321A>G,\N,\N,21/31,Benign,\N,intron_variant,0.013,0.2693,1KG_AFR_AF,COL9A2
3694,1:40770857:A>G,NM_001852.3:c.1108-338T>C,\N,\N,21/31,Benign,\N,intron_variant,2.635,0.0129,1KG_AFR_AF,COL9A2
3695,1:40770862:C>G,NM_001852.3:c.1108-343G>C,\N,\N,21/31,Unknown significance,\N,intron_variant,2.299,0.0023,1KG_AFR_AF,COL9A2
3696,1:40770865:G>A,NM_001852.3:c.1108-346C>T,\N,\N,21/31,Unknown significance,\N,intron_variant,1.567,\N,\N,COL9A2
3697,1:40770875:G>A,NM_001852.3:c.1108-356C>T,\N,\N,21/31,Benign,\N,intron_variant,2.371,0.1717,1KG_AFR_AF,COL9A2
3698,1:40770894:C>T,NM_001852.3:c.1108-375G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,5.013,\N,\N,COL9A2
3699,1:40770925:G>A,NM_001852.3:c.1108-406C>T,\N,\N,21/31,Unknown significance,\N,intron_variant,6.485,\N,\N,COL9A2
3700,1:40770927:G>A,NM_001852.3:c.1108-408C>T,\N,\N,21/31,Unknown significance,\N,intron_variant,6.088,\N,\N,COL9A2
3701,1:40770940:C>T,NM_001852.3:c.1108-421G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,2.437,\N,\N,COL9A2
3702,1:40770943:G>A,NM_001852.3:c.1108-424C>T,\N,\N,21/31,Benign,\N,intron_variant,3.768,0.1785,1KG_AFR_AF,COL9A2
3703,1:40770963:G>A,NM_001852.3:c.1107+424C>T,\N,\N,21/31,Benign,\N,intron_variant,4.256,0.0091,1KG_AFR_AF,COL9A2
3704,1:40770970:A>G,NM_001852.3:c.1107+417T>C,\N,\N,21/31,Benign,\N,intron_variant,1.859,0.3654,1KG_AFR_AF,COL9A2
3705,1:40770973:C>T,NM_001852.3:c.1107+414G>A,\N,\N,21/31,Benign,\N,intron_variant,6.163,0.0307,1KG_SAS_AF,COL9A2
3706,1:40770974:G>A,NM_001852.3:c.1107+413C>T,\N,\N,21/31,Benign,\N,intron_variant,3.662,0.007,1KG_EUR_AF,COL9A2
3707,1:40770974:G>T,NM_001852.3:c.1107+413C>A,\N,\N,21/31,Unknown significance,\N,intron_variant,1.89,\N,\N,COL9A2
3708,1:40771025:C>T,NM_001852.3:c.1107+362G>A,\N,\N,21/31,Benign,\N,intron_variant,4.647,0.0106,1KG_AFR_AF,COL9A2
3709,1:40771026:G>A,NM_001852.3:c.1107+361C>T,\N,\N,21/31,Benign,\N,intron_variant,5.118,0.1014,1KG_AFR_AF,COL9A2
3710,1:40771077:G>A,NM_001852.3:c.1107+310C>T,\N,\N,21/31,Benign,\N,intron_variant,3.761,0.0061,1KG_AFR_AF,COL9A2
3711,1:40771091:T>C,NM_001852.3:c.1107+296A>G,\N,\N,21/31,Benign,\N,intron_variant,3.844,0.0113,1KG_AFR_AF,COL9A2
3712,1:40771096:G>C,NM_001852.3:c.1107+291C>G,\N,\N,21/31,Unknown significance,\N,intron_variant,0.401,0.0008,1KG_AFR_AF,COL9A2
3713,1:40771188:G>C,NM_001852.3:c.1107+199C>G,\N,\N,21/31,Unknown significance,\N,intron_variant,1.011,0.001,1KG_EUR_AF,COL9A2
3714,1:40771305:C>T,NM_001852.3:c.1107+82G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,5.021,\N,\N,COL9A2
3715,1:40771320:G>T,NM_001852.3:c.1107+67C>A,\N,\N,21/31,Unknown significance,\N,intron_variant,4.804,\N,\N,COL9A2
3716,1:40771330:C>T,NM_001852.3:c.1107+57G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,10.06,\N,\N,COL9A2
3717,1:40771335:C>T,NM_001852.3:c.1107+52G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,8.973,0.000139587,EVS_EA_AF,COL9A2
3718,1:40771340:C>T,NM_001852.3:c.1107+47G>A,\N,\N,21/31,Unknown significance,\N,intron_variant,7.005,0.0000150593,EXAC_NFE_AF,COL9A2
3719,1:40771359:C>A,NM_001852.3:c.1107+28G>T,\N,\N,21/31,Unknown significance,\N,intron_variant,9.438,0.0000150548,EXAC_NFE_AF,COL9A2
3720,1:40771361:C>G,NM_001852.3:c.1107+26G>C,\N,\N,21/31,Unknown significance,\N,intron_variant,5.894,0.000116306,EVS_EA_AF,COL9A2
3721,1:40771369:A>G,NM_001852.3:c.1107+18T>C,\N,\N,21/31,Unknown significance,\N,intron_variant,4.118,0.000116306,EVS_EA_AF,COL9A2
3722,1:40771371:T>A,NM_001852.3:c.1107+16A>T,\N,\N,21/31,Unknown significance,\N,intron_variant,6.369,0.0000606428,EXAC_SAS_AF,COL9A2
3723,1:40771372:G>A,NM_001852.3:c.1107+15C>T,\N,\N,21/31,Unknown significance,\N,intron_variant,3.597,0.000260055,EXAC_AMR_AF,COL9A2
3724,1:40771373:C>A,NM_001852.3:c.1107+14G>T,\N,\N,21/31,Unknown significance,\N,intron_variant,5.747,0.0000606428,EXAC_SAS_AF,COL9A2
3725,1:40771384:T>C,NM_001852.3:c.1107+3A>G,\N,\N,21/31,Unknown significance,\N,splice_region_variant&intron_variant,6.822,0.0000606428,EXAC_SAS_AF,COL9A2
3726,1:40771400:G>T,NM_001852.3:c.1094C>A,NP_001843.1:p.Pro365His,21/32,\N,Unknown significance,\N,missense_variant,29.6,\N,\N,COL9A2
3727,1:40771401:G>A,NM_001852.3:c.1093C>T,NP_001843.1:p.Pro365Ser,21/32,\N,Unknown significance,\N,missense_variant,22.6,0.0000150811,EXAC_NFE_AF,COL9A2
3728,1:40771403:C>G,NM_001852.3:c.1091G>C,NP_001843.1:p.Gly364Ala,21/32,\N,Unknown significance,\N,missense_variant,27.6,0.0000867002,EXAC_AMR_AF,COL9A2
3729,1:40771406:G>C,NM_001852.3:c.1088C>G,NP_001843.1:p.Ser363Cys,21/32,\N,Unknown significance,\N,missense_variant,20.6,0.0000974849,EXAC_AFR_AF,COL9A2
3730,1:40771407:A>G,NM_001852.3:c.1087T>C,NP_001843.1:p.Ser363Pro,21/32,\N,Likely benign,\N,missense_variant,15.93,\N,\N,COL9A2
3731,1:40771419:G>GGCCCTGCGGGCCCGGCTC,NM_001852.3:c.1057_1074dup,NP_001843.1:p.Glu353_Gly358dup,21/32,\N,Unknown significance,\N,inframe_insertion,12.81,0.000086881,EXAC_AMR_AF,COL9A2
3732,1:40771426:C>T,NM_001852.3:c.1068G>A,NP_001843.1:p.Pro356=,21/32,\N,Unknown significance,\N,synonymous_variant,13.44,0.000117178,EXAC_EAS_AF,COL9A2
3733,1:40771427:G>C,NM_001852.3:c.1067C>G,NP_001843.1:p.Pro356Arg,21/32,\N,Likely benign,\N,missense_variant,7.953,0.0000869414,EXAC_AMR_AF,COL9A2
3734,1:40771430:C>A,NM_001852.3:c.1064G>T,NP_001843.1:p.Gly355Val,21/32,\N,Unknown significance,\N,missense_variant,26.9,0.0000151511,EXAC_NFE_AF,COL9A2
3735,1:40771431:C>T,NM_001852.3:c.1063G>A,NP_001843.1:p.Gly355Ser,21/32,\N,Unknown significance,\N,missense_variant,28.3,0.000226963,EVS_AA_AF,COL9A2
3736,1:40771432:C>T,NM_001852.3:c.1062G>A,NP_001843.1:p.Pro354=,21/32,\N,Benign,\N,synonymous_variant,13.46,0.107332,EXAC_AFR_AF,COL9A2
3737,1:40771433:G>A,NM_001852.3:c.1061C>T,NP_001843.1:p.Pro354Leu,21/32,\N,Unknown significance,\N,missense_variant,29.6,0.001,1KG_EAS_AF,COL9A2
3738,1:40771439:C>A,NM_001852.3:c.1055G>T,NP_001843.1:p.Gly352Val,21/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.2,0.000352526,EXAC_EAS_AF,COL9A2
3739,1:40771440:C>A,NM_001852.3:c.1054G>T,NP_001843.1:p.Gly352Cys,21/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.000303582,EXAC_SAS_AF,COL9A2
3740,1:40771443:G>A,NM_001852.3:c.1054-3C>T,\N,\N,20/31,Unknown significance,\N,splice_region_variant&intron_variant,10.84,0.001,1KG_EAS_AF,COL9A2
3741,1:40771443:G>T,NM_001852.3:c.1054-3C>A,\N,\N,20/31,Unknown significance,\N,splice_region_variant&intron_variant,10.18,0.0000151777,EXAC_NFE_AF,COL9A2
3742,1:40771446:G>T,NM_001852.3:c.1054-6C>A,\N,\N,20/31,Unknown significance,\N,splice_region_variant&intron_variant,8.973,0.0000870928,EXAC_AMR_AF,COL9A2
3743,1:40771447:G>A,NM_001852.3:c.1054-7C>T,\N,\N,20/31,Unknown significance,\N,splice_region_variant&intron_variant,9.921,0.0000151851,EXAC_NFE_AF,COL9A2
3744,1:40771450:A>G,NM_001852.3:c.1054-10T>C,\N,\N,20/31,Unknown significance,\N,intron_variant,5.801,0.0000151911,EXAC_NFE_AF,COL9A2
3745,1:40771450:A>T,NM_001852.3:c.1054-10T>A,\N,\N,20/31,Unknown significance,\N,intron_variant,3.704,0.0000607312,EXAC_SAS_AF,COL9A2
3746,1:40771453:A>G,NM_001852.3:c.1054-13T>C,\N,\N,20/31,Unknown significance,\N,intron_variant,7.982,0.00111857,EXAC_OTH_AF,COL9A2
3747,1:40771455:T>C,NM_001852.3:c.1054-15A>G,\N,\N,20/31,Unknown significance,\N,intron_variant,9.895,0.000303656,EXAC_SAS_AF,COL9A2
3748,1:40771466:GTC>G,NM_001852.3:c.1054-28_1054-27del,\N,\N,20/31,Unknown significance,\N,intron_variant,8.359,0.000030512,EXAC_NFE_AF,COL9A2
3749,1:40771469:T>A,NM_001852.3:c.1054-29A>T,\N,\N,20/31,Unknown significance,\N,intron_variant,7.115,0.001,1KG_EAS_AF,COL9A2
3750,1:40771483:AG>A,NM_001852.3:c.1054-44del,\N,\N,20/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3751,1:40771487:C>T,NM_001852.3:c.1054-47G>A,\N,\N,20/31,Benign,\N,intron_variant,8.221,0.0091,1KG_AFR_AF,COL9A2
3752,1:40771494:C>A,NM_001852.3:c.1054-54G>T,\N,\N,20/31,Unknown significance,\N,intron_variant,7.33,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL9A2
3753,1:40771505:C>T,NM_001852.3:c.1054-65G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,5.519,0.001,1KG_EUR_AF,COL9A2
3754,1:40771527:T>A,NM_001852.3:c.1054-87A>T,\N,\N,20/31,Unknown significance,\N,intron_variant,8.255,\N,\N,COL9A2
3755,1:40771532:C>G,NM_001852.3:c.1054-92G>C,\N,\N,20/31,Unknown significance,\N,intron_variant,6.216,0.003,1KG_EAS_AF,COL9A2
3756,1:40771542:T>C,NM_001852.3:c.1054-102A>G,\N,\N,20/31,Unknown significance,\N,intron_variant,1.976,\N,\N,COL9A2
3757,1:40771547:C>A,NM_001852.3:c.1054-107G>T,\N,\N,20/31,Benign,\N,intron_variant,6.895,0.0961,1KG_AFR_AF,COL9A2
3758,1:40771547:C>T,NM_001852.3:c.1054-107G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,6.792,\N,\N,COL9A2
3759,1:40771548:G>A,NM_001852.3:c.1054-108C>T,\N,\N,20/31,Unknown significance,\N,intron_variant,5.217,\N,\N,COL9A2
3760,1:40771548:G>C,NM_001852.3:c.1054-108C>G,\N,\N,20/31,Unknown significance,\N,intron_variant,1.789,\N,\N,COL9A2
3761,1:40771552:G>A,NM_001852.3:c.1054-112C>T,\N,\N,20/31,Unknown significance,\N,intron_variant,2.97,\N,\N,COL9A2
3762,1:40771572:A>G,NM_001852.3:c.1054-132T>C,\N,\N,20/31,Benign,\N,intron_variant,4.103,0.1021,1KG_AFR_AF,COL9A2
3763,1:40771594:C>T,NM_001852.3:c.1054-154G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,12.25,0.0008,1KG_AFR_AF,COL9A2
3764,1:40771686:G>T,NM_001852.3:c.1053+129C>A,\N,\N,20/31,Unknown significance,\N,intron_variant,8.915,0.001,1KG_SAS_AF,COL9A2
3765,1:40771688:G>C,NM_001852.3:c.1053+127C>G,\N,\N,20/31,Unknown significance,\N,intron_variant,6.689,0.0015,1KG_AFR_AF,COL9A2
3766,1:40771690:T>A,NM_001852.3:c.1053+125A>T,\N,\N,20/31,Unknown significance,\N,intron_variant,11.44,0.002,1KG_EAS_AF,COL9A2
3767,1:40771699:C>T,NM_001852.3:c.1053+116G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,11.76,\N,\N,COL9A2
3768,1:40771707:C>T,NM_001852.3:c.1053+108G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,11.35,0.001,1KG_SAS_AF,COL9A2
3769,1:40771728:T>G,NM_001852.3:c.1053+87A>C,\N,\N,20/31,Unknown significance,\N,intron_variant,12.3,\N,\N,COL9A2
3770,1:40771738:C>T,NM_001852.3:c.1053+77G>A,\N,\N,20/31,Benign,\N,intron_variant,3.181,0.0106,1KG_AFR_AF,COL9A2
3771,1:40771755:C>T,NM_001852.3:c.1053+60G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,7.423,0.0008,1KG_AFR_AF,COL9A2
3772,1:40771765:G>C,NM_001852.3:c.1053+50C>G,\N,\N,20/31,Unknown significance,\N,intron_variant,0.398,0.000181796,EXAC_SAS_AF,COL9A2
3773,1:40771784:C>T,NM_001852.3:c.1053+31G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,7.175,0.0000149961,EXAC_NFE_AF,COL9A2
3774,1:40771799:C>T,NM_001852.3:c.1053+16G>A,\N,\N,20/31,Unknown significance,\N,intron_variant,4.42,0.0000149948,EXAC_NFE_AF,COL9A2
3775,1:40771807:C>T,NM_001852.3:c.1053+8G>A,\N,\N,20/31,Unknown significance,\N,splice_region_variant&intron_variant,12.38,0.00030292,EXAC_SAS_AF,COL9A2
3776,1:40771808:G>A,NM_001852.3:c.1053+7C>T,\N,\N,20/31,Benign,\N,splice_region_variant&intron_variant,10.1,0.0325,1KG_AFR_AF,COL9A2
3777,1:40771809:C>T,NM_001852.3:c.1053+6G>A,\N,\N,20/31,Unknown significance,\N,splice_region_variant&intron_variant,12.65,0.0000149939,EXAC_NFE_AF,COL9A2
3778,1:40771819:T>C,NM_001852.3:c.1049A>G,NP_001843.1:p.Asp350Gly,20/32,\N,Unknown significance,\N,missense_variant,24.2,0.000014993,EXAC_NFE_AF,COL9A2
3779,1:40771827:G>A,NM_001852.3:c.1041C>T,NP_001843.1:p.Gly347=,20/32,\N,Unknown significance,\N,synonymous_variant,11.17,0.00148426,EXAC_NFE_AF,COL9A2
3780,1:40771843:G>C,NM_001852.3:c.1025C>G,NP_001843.1:p.Pro342Arg,20/32,\N,Unknown significance,\N,missense_variant,25.6,0.0000605767,EXAC_SAS_AF,COL9A2
3781,1:40771845:C>T,NM_001852.3:c.1023G>A,NP_001843.1:p.Gln341=,20/32,\N,Unknown significance,\N,synonymous_variant,11.61,0.000104976,EXAC_NFE_AF,COL9A2
3782,1:40771850:C>T,NM_001852.3:c.1018G>A,NP_001843.1:p.Gly340Ser,20/32,\N,Unknown significance,\N,missense_variant,34,0.0000449964,EXAC_NFE_AF,COL9A2
3783,1:40771855:A>G,NM_001852.3:c.1013T>C,NP_001843.1:p.Val338Ala,20/32,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,COL9A2
3784,1:40771858:C>G,NM_001852.3:c.1010G>C,NP_001843.1:p.Gly337Ala,20/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.5,0.0000450045,EXAC_NFE_AF,COL9A2
3785,1:40771863:C>T,NM_001852.3:c.1009-4G>A,\N,\N,19/31,Unknown significance,\N,splice_region_variant&intron_variant,14.6,0.0000150051,EXAC_NFE_AF,COL9A2
3786,1:40771868:A>G,NM_001852.3:c.1009-9T>C,\N,\N,19/31,Unknown significance,\N,intron_variant,18.8,0.002,1KG_SAS_AF,COL9A2
3787,1:40771871:A>C,NM_001852.3:c.1009-12T>G,\N,\N,19/31,Benign,\N,intron_variant,14.25,0.0061,1KG_AFR_AF,COL9A2
3788,1:40771887:TG>T,NM_001852.3:c.1009-29del,\N,\N,19/31,Unknown significance,\N,intron_variant,5.873,\N,\N,COL9A2
3789,1:40771898:GA>G,NM_001852.3:c.1009-40del,\N,\N,19/31,Unknown significance,\N,intron_variant,0.38,0.0000150385,EXAC_NFE_AF,COL9A2
3790,1:40771904:G>GC,NM_001852.3:c.1009-46dup,\N,\N,19/31,Unknown significance,\N,intron_variant,3.016,0.000173943,EXAC_AMR_AF,COL9A2
3791,1:40771973:C>G,NM_001852.3:c.1009-114G>C,\N,\N,19/31,Benign,\N,intron_variant,1.928,0.3264,1KG_EAS_AF,COL9A2
3792,1:40771989:G>A,NM_001852.3:c.1009-130C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,2.456,\N,\N,COL9A2
3793,1:40771994:G>C,NM_001852.3:c.1009-135C>G,\N,\N,19/31,Benign,\N,intron_variant,1.139,0.2534,1KG_AFR_AF,COL9A2
3794,1:40772002:T>G,NM_001852.3:c.1009-143A>C,\N,\N,19/31,Benign,\N,intron_variant,4.289,0.0053,1KG_AFR_AF,COL9A2
3795,1:40772023:G>A,NM_001852.3:c.1009-164C>T,\N,\N,19/31,Benign,\N,intron_variant,2.116,0.0083,1KG_AFR_AF,COL9A2
3796,1:40772032:G>A,NM_001852.3:c.1009-173C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,3.566,0.001,1KG_EUR_AF,COL9A2
3797,1:40772039:G>A,NM_001852.3:c.1009-180C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,2.66,0.001,1KG_SAS_AF,COL9A2
3798,1:40772088:T>C,NM_001852.3:c.1009-229A>G,\N,\N,19/31,Unknown significance,\N,intron_variant,1.437,0.001,1KG_EAS_AF,COL9A2
3799,1:40772128:C>T,NM_001852.3:c.1009-269G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,1.832,\N,\N,COL9A2
3800,1:40772162:C>T,NM_001852.3:c.1009-303G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,6.061,0.0008,1KG_AFR_AF,COL9A2
3801,1:40772203:G>C,NM_001852.3:c.1009-344C>G,\N,\N,19/31,Benign,\N,intron_variant,0.628,0.121,1KG_AFR_AF,COL9A2
3802,1:40772209:A>G,NM_001852.3:c.1009-350T>C,\N,\N,19/31,Benign,\N,intron_variant,4.935,0.0112,1KG_SAS_AF,COL9A2
3803,1:40772227:G>A,NM_001852.3:c.1009-368C>T,\N,\N,19/31,Benign,\N,intron_variant,4.066,0.0182,1KG_AFR_AF,COL9A2
3804,1:40772252:C>T,NM_001852.3:c.1009-393G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,0.144,\N,\N,COL9A2
3805,1:40772265:CAA>C,NM_001852.3:c.1009-408_1009-407del,\N,\N,19/31,Benign,\N,intron_variant,8.691,0.0182,1KG_AFR_AF,COL9A2
3806,1:40772273:C>G,NM_001852.3:c.1009-414G>C,\N,\N,19/31,Unknown significance,\N,intron_variant,0.986,0.001,1KG_EAS_AF,COL9A2
3807,1:40772284:A>G,NM_001852.3:c.1009-425T>C,\N,\N,19/31,Benign,\N,intron_variant,1.89,0.0091,1KG_AFR_AF,COL9A2
3808,1:40772287:TC>T,NM_001852.3:c.1009-429del,\N,\N,19/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3809,1:40772292:CA>C,NM_001852.3:c.1009-434del,\N,\N,19/31,Benign,\N,intron_variant,5.891,0.2284,1KG_AFR_AF,COL9A2
3810,1:40772300:C>T,NM_001852.3:c.1009-441G>A,\N,\N,19/31,Benign,\N,intron_variant,5.521,0.2147,1KG_AMR_AF,COL9A2
3811,1:40772308:G>A,NM_001852.3:c.1009-449C>T,\N,\N,19/31,Benign,\N,intron_variant,11.87,0.0053,1KG_AFR_AF,COL9A2
3812,1:40772339:G>T,NM_001852.3:c.1009-480C>A,\N,\N,19/31,Benign,\N,intron_variant,1.629,0.0507,1KG_AFR_AF,COL9A2
3813,1:40772373:T>C,NM_001852.3:c.1009-514A>G,\N,\N,19/31,Unknown significance,\N,intron_variant,2.087,\N,\N,COL9A2
3814,1:40772376:C>G,NM_001852.3:c.1009-517G>C,\N,\N,19/31,Unknown significance,\N,intron_variant,4.752,\N,\N,COL9A2
3815,1:40772386:A>AG,NM_001852.3:c.1009-528dup,\N,\N,19/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3816,1:40772466:A>G,NM_001852.3:c.1009-607T>C,\N,\N,19/31,Unknown significance,\N,intron_variant,1.97,\N,\N,COL9A2
3817,1:40772500:C>T,NM_001852.3:c.1008+618G>A,\N,\N,19/31,Benign,\N,intron_variant,5.359,0.0507,1KG_AFR_AF,COL9A2
3818,1:40772512:A>T,NM_001852.3:c.1008+606T>A,\N,\N,19/31,Unknown significance,\N,intron_variant,0.275,\N,\N,COL9A2
3819,1:40772516:A>AT,NM_001852.3:c.1008+601dup,\N,\N,19/31,Unknown significance,\N,intron_variant,0.329,\N,\N,COL9A2
3820,1:40772532:T>G,NM_001852.3:c.1008+586A>C,\N,\N,19/31,Unknown significance,\N,intron_variant,3.192,\N,\N,COL9A2
3821,1:40772619:C>A,NM_001852.3:c.1008+499G>T,\N,\N,19/31,Unknown significance,\N,intron_variant,5.226,0.001,1KG_SAS_AF,COL9A2
3822,1:40772668:C>T,NM_001852.3:c.1008+450G>A,\N,\N,19/31,Benign,\N,intron_variant,1.973,0.1513,1KG_AFR_AF,COL9A2
3823,1:40772673:C>A,NM_001852.3:c.1008+445G>T,\N,\N,19/31,Benign,\N,intron_variant,0.515,0.0061,1KG_AFR_AF,COL9A2
3824,1:40772673:C>T,NM_001852.3:c.1008+445G>A,\N,\N,19/31,Benign,\N,intron_variant,0.526,0.0068,1KG_AFR_AF,COL9A2
3825,1:40772706:G>A,NM_001852.3:c.1008+412C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,0.256,0.001,1KG_EUR_AF,COL9A2
3826,1:40772719:A>G,NM_001852.3:c.1008+399T>C,\N,\N,19/31,Unknown significance,\N,intron_variant,0.554,\N,\N,COL9A2
3827,1:40772727:G>A,NM_001852.3:c.1008+391C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,3.03,0.001,1KG_SAS_AF,COL9A2
3828,1:40772746:A>T,NM_001852.3:c.1008+372T>A,\N,\N,19/31,Benign,\N,intron_variant,0.167,0.1188,1KG_AFR_AF,COL9A2
3829,1:40772782:G>T,NM_001852.3:c.1008+336C>A,\N,\N,19/31,Unknown significance,\N,intron_variant,1.039,0.0014,1KG_AMR_AF,COL9A2
3830,1:40772785:G>A,NM_001852.3:c.1008+333C>T,\N,\N,19/31,Benign,\N,intron_variant,1.113,0.0092,1KG_SAS_AF,COL9A2
3831,1:40772793:A>C,NM_001852.3:c.1008+325T>G,\N,\N,19/31,Unknown significance,\N,intron_variant,0.568,\N,\N,COL9A2
3832,1:40772812:C>T,NM_001852.3:c.1008+306G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,0.566,0.0014,1KG_AMR_AF,COL9A2
3833,1:40772813:G>A,NM_001852.3:c.1008+305C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,0.065,\N,\N,COL9A2
3834,1:40772867:G>A,NM_001852.3:c.1008+251C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,1.38,0.0043,1KG_AMR_AF,COL9A2
3835,1:40772883:AG>A,NM_001852.3:c.1008+234del,\N,\N,19/31,Unknown significance,\N,intron_variant,0.889,\N,\N,COL9A2
3836,1:40772943:C>T,NM_001852.3:c.1008+175G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,11.7,0.0015,1KG_AFR_AF,COL9A2
3837,1:40772980:C>G,NM_001852.3:c.1008+138G>C,\N,\N,19/31,Benign,\N,intron_variant,2.013,0.006,1KG_EUR_AF,COL9A2
3838,1:40772982:T>C,NM_001852.3:c.1008+136A>G,\N,\N,19/31,Unknown significance,\N,intron_variant,0.979,0.0008,1KG_AFR_AF,COL9A2
3839,1:40772985:G>A,NM_001852.3:c.1008+133C>T,\N,\N,19/31,Unknown significance,\N,intron_variant,2.415,0.001,1KG_SAS_AF,COL9A2
3840,1:40773045:C>T,NM_001852.3:c.1008+73G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,10.06,0.002,1KG_EUR_AF,COL9A2
3841,1:40773045:CG>C,NM_001852.3:c.1008+72del,\N,\N,19/31,Benign,\N,intron_variant,11.16,0.0102,1KG_SAS_AF,COL9A2
3842,1:40773048:G>C,NM_001852.3:c.1008+70C>G,\N,\N,19/31,Unknown significance,\N,intron_variant,8.385,0.002,1KG_EAS_AF,COL9A2
3843,1:40773064:A>AC,NM_001852.3:c.1008+53dup,\N,\N,19/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3844,1:40773075:C>T,NM_001852.3:c.1008+43G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,6.492,0.000179559,EXAC_NFE_AF,COL9A2
3845,1:40773082:C>T,NM_001852.3:c.1008+36G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,6.093,0.0000697545,EXAC_SAS_AF,COL9A2
3846,1:40773092:C>T,NM_001852.3:c.1008+26G>A,\N,\N,19/31,Unknown significance,\N,intron_variant,6.738,0.0000171045,EXAC_NFE_AF,COL9A2
3847,1:40773096:T>A,NM_001852.3:c.1008+22A>T,\N,\N,19/31,Unknown significance,\N,intron_variant,2.738,0.000110988,EXAC_AFR_AF,COL9A2
3848,1:40773118:C>T,NM_001852.3:c.1008G>A,NP_001843.1:p.Ala336=,19/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.1,0.000119531,EXAC_EAS_AF,COL9A2
3849,1:40773119:G>T,NM_001852.3:c.1007C>A,NP_001843.1:p.Ala336Glu,19/32,\N,Benign,\N,missense_variant&splice_region_variant,26.6,0.0106,1KG_AFR_AF,COL9A2
3850,1:40773119:G>A,NM_001852.3:c.1007C>T,NP_001843.1:p.Ala336Val,19/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.9,0.0000317078,EXAC_NFE_AF,COL9A2
3851,1:40773121:T>C,NM_001852.3:c.1005A>G,NP_001843.1:p.Leu335=,19/32,\N,Unknown significance,\N,synonymous_variant,1.233,0.00010408,EXAC_AFR_AF,COL9A2
3852,1:40773123:G>C,NM_001852.3:c.1003C>G,NP_001843.1:p.Leu335Val,19/32,\N,Benign,\N,missense_variant,23.2,0.122815,EXAC_EAS_AF,COL9A2
3853,1:40773131:T>G,NM_001852.3:c.995A>C,NP_001843.1:p.His332Pro,19/32,\N,Unknown significance,\N,missense_variant,20.5,0.001,1KG_EAS_AF,COL9A2
3854,1:40773140:C>G,NM_001852.3:c.986G>C,NP_001843.1:p.Ser329Thr,19/32,\N,Likely benign,\N,missense_variant,8.194,\N,\N,COL9A2
3855,1:40773144:C>T,NM_001852.3:c.982G>A,NP_001843.1:p.Gly328Arg,19/32,\N,Unknown significance,\N,missense_variant,28.1,0.00268253,EXAC_EAS_AF,COL9A2
3856,1:40773145:G>A,NM_001852.3:c.981C>T,NP_001843.1:p.Pro327=,19/32,\N,Unknown significance,\N,synonymous_variant,8.261,0.000226963,EVS_AA_AF,COL9A2
3857,1:40773145:G>T,NM_001852.3:c.981C>A,NP_001843.1:p.Pro327=,19/32,\N,Unknown significance,\N,synonymous_variant,5.545,0.0000152821,EXAC_NFE_AF,COL9A2
3858,1:40773149:TG>CA,NM_001852.3:c.976_977inv,NP_001843.1:p.Gln326Trp,19/32,\N,Benign,Intervertebral disc disease,missense_variant,21.7,\N,\N,COL9A2
3859,1:40773149:T>A,NM_001852.3:c.977A>T,NP_001843.1:p.Gln326Leu,19/32,\N,Likely benign,\N,missense_variant,9.703,\N,\N,COL9A2
3860,1:40773149:T>C,NM_001852.3:c.977A>G,NP_001843.1:p.Gln326Arg,19/32,\N,Benign,\N,missense_variant,4.598,0.6171,1KG_EAS_AF,COL9A2
3861,1:40773149:T>G,NM_001852.3:c.977A>C,NP_001843.1:p.Gln326Pro,19/32,\N,Likely benign,\N,missense_variant,8.71,\N,\N,COL9A2
3862,1:40773150:G>A,NM_001852.3:c.976C>T,NP_001843.1:p.Gln326Ter,19/32,\N,Benign,\N,stop_gained,36,0.11146,EXAC_EAS_AF,COL9A2
3863,1:40773150:G>T,NM_001852.3:c.976C>A,NP_001843.1:p.Gln326Lys,19/32,\N,Likely benign,\N,missense_variant,5.636,0.000116225,EXAC_EAS_AF,COL9A2
3864,1:40773154:C>T,NM_001852.3:c.972G>A,NP_001843.1:p.Ala324=,19/32,\N,Unknown significance,\N,synonymous_variant,11.12,0.000122745,EXAC_SAS_AF,COL9A2
3865,1:40773155:G>A,NM_001852.3:c.971C>T,NP_001843.1:p.Ala324Val,19/32,\N,Likely benign,\N,missense_variant,16.55,0.000116279,EVS_EA_AF,COL9A2
3866,1:40773157:C>T,NM_001852.3:c.969G>A,NP_001843.1:p.Gln323=,19/32,\N,Unknown significance,\N,synonymous_variant,5.812,0.0000151249,EXAC_NFE_AF,COL9A2
3867,1:40773171:C>T,NM_001852.3:c.955G>A,NP_001843.1:p.Gly319Ser,19/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.7,0.00113379,EXAC_OTH_AF,COL9A2
3868,1:40773175:G>C,NM_001852.3:c.955-4C>G,\N,\N,18/31,Benign,\N,splice_region_variant&intron_variant,9.988,0.0593295,EXAC_AMR_AF,COL9A2
3869,1:40773183:A>C,NM_001852.3:c.955-12T>G,\N,\N,18/31,Unknown significance,\N,intron_variant,9.593,0.0000151934,EXAC_NFE_AF,COL9A2
3870,1:40773185:A>G,NM_001852.3:c.955-14T>C,\N,\N,18/31,Unknown significance,\N,intron_variant,9.887,0.000015193,EXAC_NFE_AF,COL9A2
3871,1:40773186:TAACCAAAGATACAAATTA>T,NM_001852.3:c.955-33_955-16del,\N,\N,18/31,Unknown significance,\N,intron_variant,11,\N,\N,COL9A2
3872,1:40773189:C>A,NM_001852.3:c.955-18G>T,\N,\N,18/31,Unknown significance,\N,intron_variant,9.786,0.0000608088,EXAC_NFE_AF,COL9A2
3873,1:40773198:C>A,NM_001852.3:c.955-27G>T,\N,\N,18/31,Unknown significance,\N,intron_variant,2.994,\N,\N,COL9A2
3874,1:40773207:G>A,NM_001852.3:c.955-36C>T,\N,\N,18/31,Unknown significance,\N,intron_variant,6.007,0.000089222,EXAC_AMR_AF,COL9A2
3875,1:40773219:G>A,NM_001852.3:c.955-48C>T,\N,\N,18/31,Unknown significance,\N,intron_variant,6.96,0.0000626881,EXAC_SAS_AF,COL9A2
3876,1:40773222:C>T,NM_001852.3:c.955-51G>A,\N,\N,18/31,Unknown significance,\N,intron_variant,6.953,0.000124143,EXAC_NFE_AF,COL9A2
3877,1:40773223:C>A,NM_001852.3:c.955-52G>T,\N,\N,18/31,Unknown significance,\N,intron_variant,5.539,0.0000628694,EXAC_SAS_AF,COL9A2
3878,1:40773240:T>G,NM_001852.3:c.955-69A>C,\N,\N,18/31,Unknown significance,\N,intron_variant,12.54,\N,\N,COL9A2
3879,1:40773289:C>T,NM_001852.3:c.954+86G>A,\N,\N,18/31,Benign,\N,intron_variant,2.555,0.1806,1KG_EAS_AF,COL9A2
3880,1:40773296:A>G,NM_001852.3:c.954+79T>C,\N,\N,18/31,Unknown significance,\N,intron_variant,4.648,\N,\N,COL9A2
3881,1:40773338:G>A,NM_001852.3:c.954+37C>T,\N,\N,18/31,Unknown significance,\N,intron_variant,3.352,0.0000909422,EXAC_AMR_AF,COL9A2
3882,1:40773340:C>T,NM_001852.3:c.954+35G>A,\N,\N,18/31,Unknown significance,\N,intron_variant,8.192,\N,\N,COL9A2
3883,1:40773348:C>G,NM_001852.3:c.954+27G>C,\N,\N,18/31,Unknown significance,\N,intron_variant,3.816,0.000015488,EXAC_NFE_AF,COL9A2
3884,1:40773355:A>AT,NM_001852.3:c.954+19dup,\N,\N,18/31,Unknown significance,\N,intron_variant,0.549,0.0000153752,EXAC_NFE_AF,COL9A2
3885,1:40773370:C>A,NM_001852.3:c.954+5G>T,\N,\N,18/31,Unknown significance,\N,splice_region_variant&intron_variant,11.78,\N,\N,COL9A2
3886,1:40773371:C>T,NM_001852.3:c.954+4G>A,\N,\N,18/31,Unknown significance,\N,splice_region_variant&intron_variant,9.381,0.000226963,EVS_AA_AF,COL9A2
3887,1:40773387:C>T,NM_001852.3:c.942G>A,NP_001843.1:p.Thr314=,18/32,\N,Unknown significance,\N,synonymous_variant,12.29,0.000232558,EVS_EA_AF,COL9A2
3888,1:40773388:G>A,NM_001852.3:c.941C>T,NP_001843.1:p.Thr314Met,18/32,\N,Likely benign,\N,missense_variant,6.474,0.000115821,EXAC_EAS_AF,COL9A2
3889,1:40773396:G>T,NM_001852.3:c.933C>A,NP_001843.1:p.Thr311=,18/32,\N,Unknown significance,\N,synonymous_variant,0.075,0.0000976563,EXAC_AFR_AF,COL9A2
3890,1:40773402:A>C,NM_001852.3:c.927T>G,NP_001843.1:p.Asp309Glu,18/32,\N,Unknown significance,\N,missense_variant,0.008,0.00102738,EXAC_NFE_AF,COL9A2
3891,1:40773405:C>T,NM_001852.3:c.924G>A,NP_001843.1:p.Lys308=,18/32,\N,Unknown significance,\N,synonymous_variant,9.534,0.0008,1KG_AFR_AF,COL9A2
3892,1:40773410:C>T,NM_001852.3:c.919G>A,NP_001843.1:p.Gly307Ser,18/32,\N,Unknown significance,\N,missense_variant,29.6,0.0014,1KG_AMR_AF,COL9A2
3893,1:40773411:G>A,NM_001852.3:c.918C>T,NP_001843.1:p.Asn306=,18/32,\N,Unknown significance,\N,synonymous_variant,4.287,0.0008,1KG_AFR_AF,COL9A2
3894,1:40773420:T>G,NM_001852.3:c.909A>C,NP_001843.1:p.Pro303=,18/32,\N,Unknown significance,\N,synonymous_variant,0.357,0.0000907029,EXAC_NFE_AF,COL9A2
3895,1:40773424:G>A,NM_001852.3:c.905C>T,NP_001843.1:p.Pro302Leu,18/32,\N,Unknown significance,\N,missense_variant,5.349,0.000232019,EXAC_EAS_AF,COL9A2
3896,1:40773424:G>C,NM_001852.3:c.905C>G,NP_001843.1:p.Pro302Arg,18/32,\N,Unknown significance,\N,missense_variant,17.77,0.000116279,EVS_EA_AF,COL9A2
3897,1:40773427:C>T,NM_001852.3:c.902G>A,NP_001843.1:p.Gly301Asp,18/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.4,0.001,1KG_SAS_AF,COL9A2
3898,1:40773437:G>A,NM_001852.3:c.901-9C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,7.083,0.000907853,EVS_AA_AF,COL9A2
3899,1:40773438:A>G,NM_001852.3:c.901-10T>C,\N,\N,17/31,Unknown significance,\N,intron_variant,7.845,0.000097924,EXAC_AFR_AF,COL9A2
3900,1:40773465:C>T,NM_001852.3:c.901-37G>A,\N,\N,17/31,Unknown significance,\N,intron_variant,2.78,0.000226963,EVS_AA_AF,COL9A2
3901,1:40773466:G>A,NM_001852.3:c.901-38C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,2.088,0.00117925,EXAC_OTH_AF,COL9A2
3902,1:40773467:G>A,NM_001852.3:c.901-39C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,5.173,0.0000992063,EXAC_AFR_AF,COL9A2
3903,1:40773470:A>T,NM_001852.3:c.901-42T>A,\N,\N,17/31,Unknown significance,\N,intron_variant,1.968,0.000116279,EVS_EA_AF,COL9A2
3904,1:40773475:T>C,NM_001852.3:c.901-47A>G,\N,\N,17/31,Unknown significance,\N,intron_variant,3.342,0.0000154226,EXAC_NFE_AF,COL9A2
3905,1:40773514:G>T,NM_001852.3:c.901-86C>A,\N,\N,17/31,Benign,\N,intron_variant,2.049,0.0785,1KG_EUR_AF,COL9A2
3906,1:40773575:AG>A,NM_001852.3:c.901-148del,\N,\N,17/31,Unknown significance,\N,intron_variant,9.327,0.0014,1KG_AMR_AF,COL9A2
3907,1:40773596:G>A,NM_001852.3:c.901-168C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,5.992,0.0008,1KG_AFR_AF,COL9A2
3908,1:40773644:C>T,NM_001852.3:c.901-216G>A,\N,\N,17/31,Unknown significance,\N,intron_variant,6.155,0.0008,1KG_AFR_AF,COL9A2
3909,1:40773675:C>T,NM_001852.3:c.900+189G>A,\N,\N,17/31,Unknown significance,\N,intron_variant,4.87,\N,\N,COL9A2
3910,1:40773676:G>A,NM_001852.3:c.900+188C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,1.398,0.0029,1KG_AMR_AF,COL9A2
3911,1:40773687:C>A,NM_001852.3:c.900+177G>T,\N,\N,17/31,Unknown significance,\N,intron_variant,5.377,\N,\N,COL9A2
3912,1:40773701:T>C,NM_001852.3:c.900+163A>G,\N,\N,17/31,Unknown significance,\N,intron_variant,3.801,0.0008,1KG_AFR_AF,COL9A2
3913,1:40773704:A>G,NM_001852.3:c.900+160T>C,\N,\N,17/31,Unknown significance,\N,intron_variant,7.877,0.0008,1KG_AFR_AF,COL9A2
3914,1:40773745:G>A,NM_001852.3:c.900+119C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,3.98,\N,\N,COL9A2
3915,1:40773748:G>A,NM_001852.3:c.900+116C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,5.364,0.0008,1KG_AFR_AF,COL9A2
3916,1:40773775:C>T,NM_001852.3:c.900+89G>A,\N,\N,17/31,Unknown significance,\N,intron_variant,4.394,\N,\N,COL9A2
3917,1:40773801:G>A,NM_001852.3:c.900+63C>T,\N,\N,17/31,Benign,\N,intron_variant,5.179,0.0079,1KG_EAS_AF,COL9A2
3918,1:40773815:AGCTGGGCCCTGGCCTCTGTCCT>A,NM_001852.3:c.900+27_900+48del,\N,\N,17/31,Unknown significance,\N,intron_variant,3.648,\N,\N,COL9A2
3919,1:40773816:G>A,NM_001852.3:c.900+48C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,2.78,0.000161186,EXAC_FIN_AF,COL9A2
3920,1:40773816:G>T,NM_001852.3:c.900+48C>A,\N,\N,17/31,Unknown significance,\N,intron_variant,1.35,0.0000611396,EXAC_SAS_AF,COL9A2
3921,1:40773818:TG>T,NM_001852.3:c.900+45del,\N,\N,17/31,Unknown significance,\N,intron_variant,4.567,0.000347947,EXAC_AMR_AF,COL9A2
3922,1:40773821:G>A,NM_001852.3:c.900+43C>T,\N,\N,17/31,Unknown significance,\N,intron_variant,2.732,0.000173974,EXAC_AMR_AF,COL9A2
3923,1:40773823:C>T,NM_001852.3:c.900+41G>A,\N,\N,17/31,Unknown significance,\N,intron_variant,6.58,0.0000150948,EXAC_NFE_AF,COL9A2
3924,1:40773828:C>A,NM_001852.3:c.900+36G>T,\N,\N,17/31,Unknown significance,\N,intron_variant,3.968,0.000061192,EXAC_SAS_AF,COL9A2
3925,1:40773838:G>C,NM_001852.3:c.900+26C>G,\N,\N,17/31,Unknown significance,\N,intron_variant,1.412,0.0000151007,EXAC_NFE_AF,COL9A2
3926,1:40773838:G>T,NM_001852.3:c.900+26C>A,\N,\N,17/31,Unknown significance,\N,intron_variant,2.644,0.0000151007,EXAC_NFE_AF,COL9A2
3927,1:40773846:T>C,NM_001852.3:c.900+18A>G,\N,\N,17/31,Unknown significance,\N,intron_variant,3.009,0.000306147,EXAC_SAS_AF,COL9A2
3928,1:40773848:G>C,NM_001852.3:c.900+16C>G,\N,\N,17/31,Unknown significance,\N,intron_variant,6.565,0.000116279,EVS_EA_AF,COL9A2
3929,1:40773858:A>G,NM_001852.3:c.900+6T>C,\N,\N,17/31,Unknown significance,\N,splice_region_variant&intron_variant,12.75,0.0000150939,EXAC_NFE_AF,COL9A2
3930,1:40773864:C>T,NM_001852.3:c.900G>A,NP_001843.1:p.Thr300=,17/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.26,\N,\N,COL9A2
3931,1:40773865:G>A,NM_001852.3:c.899C>T,NP_001843.1:p.Thr300Met,17/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.8,0.000115929,EXAC_EAS_AF,COL9A2
3932,1:40773876:C>T,NM_001852.3:c.888G>A,NP_001843.1:p.Pro296=,17/32,\N,Unknown significance,\N,synonymous_variant,15.22,0.0008,1KG_AFR_AF,COL9A2
3933,1:40773877:G>A,NM_001852.3:c.887C>T,NP_001843.1:p.Pro296Leu,17/32,\N,Unknown significance,\N,missense_variant,32,0.0000615764,EXAC_SAS_AF,COL9A2
3934,1:40773880:C>G,NM_001852.3:c.884G>C,NP_001843.1:p.Gly295Ala,17/32,\N,Unknown significance,\N,missense_variant,27.6,\N,\N,COL9A2
3935,1:40773885:G>C,NM_001852.3:c.879C>G,NP_001843.1:p.Ile293Met,17/32,\N,Likely benign,\N,missense_variant,10.45,0.000226963,EVS_AA_AF,COL9A2
3936,1:40773889:C>T,NM_001852.3:c.875G>A,NP_001843.1:p.Gly292Glu,17/32,\N,Unknown significance,\N,missense_variant,29.3,0.000175747,EXAC_AMR_AF,COL9A2
3937,1:40773901:C>T,NM_001852.3:c.863G>A,NP_001843.1:p.Arg288His,17/32,\N,Likely benign,\N,missense_variant,27.3,0.000117123,EXAC_EAS_AF,COL9A2
3938,1:40773902:G>A,NM_001852.3:c.862C>T,NP_001843.1:p.Arg288Cys,17/32,\N,Unknown significance,\N,missense_variant,29.5,0.0000307531,EXAC_NFE_AF,COL9A2
3939,1:40773911:G>A,NM_001852.3:c.853C>T,NP_001843.1:p.Pro285Ser,17/32,\N,Unknown significance,\N,missense_variant,13.63,0.0000155933,EXAC_NFE_AF,COL9A2
3940,1:40773921:C>T,NM_001852.3:c.847-4G>A,\N,\N,16/31,Unknown significance,\N,splice_region_variant&intron_variant,14.11,0.000126486,EXAC_EAS_AF,COL9A2
3941,1:40773925:G>A,NM_001852.3:c.847-8C>T,\N,\N,16/31,Unknown significance,\N,splice_region_variant&intron_variant,12.02,0.00143006,EXAC_EAS_AF,COL9A2
3942,1:40773926:C>T,NM_001852.3:c.847-9G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,10.39,0.0014,1KG_AMR_AF,COL9A2
3943,1:40773927:G>A,NM_001852.3:c.847-10C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,9.041,0.000100847,EXAC_NFE_AF,COL9A2
3944,1:40773927:GGAGA>G,NM_001852.3:c.847-14_847-11del,\N,\N,16/31,Unknown significance,\N,intron_variant,6.906,0.000793651,EXAC_EAS_AF,COL9A2
3945,1:40773938:A>G,NM_001852.3:c.847-21T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,9.862,0.000116279,EVS_EA_AF,COL9A2
3946,1:40773944:C>T,NM_001852.3:c.847-27G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,7.225,0.000073185,EXAC_SAS_AF,COL9A2
3947,1:40773957:G>C,NM_001852.3:c.847-40C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,1.233,0.0000417519,EXAC_NFE_AF,COL9A2
3948,1:40773960:C>T,NM_001852.3:c.847-43G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,2.319,0.0000862627,EXAC_NFE_AF,COL9A2
3949,1:40773962:CCT>C,NM_001852.3:c.847-47_847-46del,\N,\N,16/31,Unknown significance,\N,intron_variant,7.177,0.000583658,EXAC_EAS_AF,COL9A2
3950,1:40773965:G>C,NM_001852.3:c.847-48C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,1.736,\N,\N,COL9A2
3951,1:40773976:CAG>C,NM_001852.3:c.847-61_847-60del,\N,\N,16/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
3952,1:40773982:G>C,NM_001852.3:c.847-65C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,7.456,0.001,1KG_EUR_AF,COL9A2
3953,1:40773983:G>C,NM_001852.3:c.847-66C>G,\N,\N,16/31,Benign,\N,intron_variant,8.719,0.0106,1KG_AFR_AF,COL9A2
3954,1:40774002:G>T,NM_001852.3:c.847-85C>A,\N,\N,16/31,Unknown significance,\N,intron_variant,12.61,\N,\N,COL9A2
3955,1:40774022:C>T,NM_001852.3:c.847-105G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,19.09,\N,\N,COL9A2
3956,1:40774050:G>T,NM_001852.3:c.847-133C>A,\N,\N,16/31,Unknown significance,\N,intron_variant,2.259,0.0014,1KG_AMR_AF,COL9A2
3957,1:40774052:C>T,NM_001852.3:c.847-135G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,4.331,0.001,1KG_SAS_AF,COL9A2
3958,1:40774053:G>A,NM_001852.3:c.847-136C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,5.368,0.0008,1KG_AFR_AF,COL9A2
3959,1:40774081:C>T,NM_001852.3:c.847-164G>A,\N,\N,16/31,Benign,\N,intron_variant,5.616,0.2262,1KG_AFR_AF,COL9A2
3960,1:40774105:G>T,NM_001852.3:c.847-188C>A,\N,\N,16/31,Benign,\N,intron_variant,1.313,0.0082,1KG_SAS_AF,COL9A2
3961,1:40774176:C>T,NM_001852.3:c.847-259G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,2.882,0.001,1KG_SAS_AF,COL9A2
3962,1:40774194:A>C,NM_001852.3:c.847-277T>G,\N,\N,16/31,Benign,\N,intron_variant,3.564,0.9702,1KG_EAS_AF,COL9A2
3963,1:40774196:C>A,NM_001852.3:c.847-279G>T,\N,\N,16/31,Unknown significance,\N,intron_variant,8.843,0.001,1KG_EAS_AF,COL9A2
3964,1:40774206:A>G,NM_001852.3:c.847-289T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,2.572,0.0008,1KG_AFR_AF,COL9A2
3965,1:40774213:C>G,NM_001852.3:c.847-296G>C,\N,\N,16/31,Unknown significance,\N,intron_variant,3.447,\N,\N,COL9A2
3966,1:40774222:C>T,NM_001852.3:c.847-305G>A,\N,\N,16/31,Benign,\N,intron_variant,0.698,0.0317,1KG_SAS_AF,COL9A2
3967,1:40774223:G>A,NM_001852.3:c.847-306C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,0.939,0.0029,1KG_AMR_AF,COL9A2
3968,1:40774229:A>G,NM_001852.3:c.847-312T>C,\N,\N,16/31,Benign,\N,intron_variant,5.223,0.0843,1KG_EAS_AF,COL9A2
3969,1:40774230:G>A,NM_001852.3:c.847-313C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,3.233,0.001,1KG_EUR_AF,COL9A2
3970,1:40774232:G>T,NM_001852.3:c.847-315C>A,\N,\N,16/31,Unknown significance,\N,intron_variant,2.409,\N,\N,COL9A2
3971,1:40774235:T>C,NM_001852.3:c.847-318A>G,\N,\N,16/31,Benign,\N,intron_variant,4.462,0.2012,1KG_AFR_AF,COL9A2
3972,1:40774249:G>A,NM_001852.3:c.847-332C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,4.34,0.0014,1KG_AMR_AF,COL9A2
3973,1:40774269:C>A,NM_001852.3:c.847-352G>T,\N,\N,16/31,Unknown significance,\N,intron_variant,4.359,0.001,1KG_EUR_AF,COL9A2
3974,1:40774272:GAA>G,NM_001852.3:c.847-357_847-356del,\N,\N,16/31,Benign,\N,intron_variant,0.586,0.0198,1KG_EAS_AF,COL9A2
3975,1:40774293:T>C,NM_001852.3:c.847-376A>G,\N,\N,16/31,Unknown significance,\N,intron_variant,2.568,0.0008,1KG_AFR_AF,COL9A2
3976,1:40774334:G>A,NM_001852.3:c.847-417C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,3.505,\N,\N,COL9A2
3977,1:40774369:T>C,NM_001852.3:c.847-452A>G,\N,\N,16/31,Unknown significance,\N,intron_variant,12.88,\N,\N,COL9A2
3978,1:40774387:T>A,NM_001852.3:c.847-470A>T,\N,\N,16/31,Benign,\N,intron_variant,8.433,0.0091,1KG_AFR_AF,COL9A2
3979,1:40774406:T>C,NM_001852.3:c.847-489A>G,\N,\N,16/31,Benign,\N,intron_variant,0.954,0.0893,1KG_AMR_AF,COL9A2
3980,1:40774437:G>A,NM_001852.3:c.847-520C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,6.758,\N,\N,COL9A2
3981,1:40774484:T>G,NM_001852.3:c.847-567A>C,\N,\N,16/31,Benign,\N,intron_variant,4.165,0.0209,1KG_EUR_AF,COL9A2
3982,1:40774497:G>A,NM_001852.3:c.847-580C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,1.971,0.001,1KG_EAS_AF,COL9A2
3983,1:40774498:G>T,NM_001852.3:c.847-581C>A,\N,\N,16/31,Unknown significance,\N,intron_variant,1.355,\N,\N,COL9A2
3984,1:40774504:G>C,NM_001852.3:c.847-587C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,0.67,0.001,1KG_EAS_AF,COL9A2
3985,1:40774509:T>C,NM_001852.3:c.847-592A>G,\N,\N,16/31,Unknown significance,\N,intron_variant,1.155,0.0008,1KG_AFR_AF,COL9A2
3986,1:40774529:A>G,NM_001852.3:c.847-612T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,5.302,0.002,1KG_EAS_AF,COL9A2
3987,1:40774566:A>T,NM_001852.3:c.847-649T>A,\N,\N,16/31,Unknown significance,\N,intron_variant,0.187,0.0008,1KG_AFR_AF,COL9A2
3988,1:40774604:T>G,NM_001852.3:c.847-687A>C,\N,\N,16/31,Unknown significance,\N,intron_variant,5.098,0.001,1KG_EUR_AF,COL9A2
3989,1:40774641:G>T,NM_001852.3:c.847-724C>A,\N,\N,16/31,Unknown significance,\N,intron_variant,0.963,\N,\N,COL9A2
3990,1:40774643:C>T,NM_001852.3:c.847-726G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,2.374,\N,\N,COL9A2
3991,1:40774644:G>A,NM_001852.3:c.847-727C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,0.471,\N,\N,COL9A2
3992,1:40774651:C>T,NM_001852.3:c.847-734G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,3.175,\N,\N,COL9A2
3993,1:40774653:C>T,NM_001852.3:c.847-736G>A,\N,\N,16/31,Benign,\N,intron_variant,2.852,0.1796,1KG_EAS_AF,COL9A2
3994,1:40774684:G>A,NM_001852.3:c.847-767C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,0.356,0.001,1KG_EUR_AF|1KG_SAS_AF,COL9A2
3995,1:40774694:G>A,NM_001852.3:c.847-777C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,6.615,0.0008,1KG_AFR_AF,COL9A2
3996,1:40774697:C>T,NM_001852.3:c.847-780G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,7.242,\N,\N,COL9A2
3997,1:40774729:C>T,NM_001852.3:c.847-812G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,0.938,\N,\N,COL9A2
3998,1:40774734:T>A,NM_001852.3:c.847-817A>T,\N,\N,16/31,Unknown significance,\N,intron_variant,2.857,\N,\N,COL9A2
3999,1:40774742:T>C,NM_001852.3:c.847-825A>G,\N,\N,16/31,Unknown significance,\N,intron_variant,0.111,0.0029,1KG_AMR_AF,COL9A2
4000,1:40774759:C>A,NM_001852.3:c.847-842G>T,\N,\N,16/31,Unknown significance,\N,intron_variant,2.081,0.0015,1KG_AFR_AF,COL9A2
4001,1:40774761:A>C,NM_001852.3:c.847-844T>G,\N,\N,16/31,Unknown significance,\N,intron_variant,1.483,\N,\N,COL9A2
4002,1:40774782:G>A,NM_001852.3:c.846+828C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,0.281,\N,\N,COL9A2
4003,1:40774805:T>G,NM_001852.3:c.846+805A>C,\N,\N,16/31,Unknown significance,\N,intron_variant,1.489,\N,\N,COL9A2
4004,1:40774820:A>G,NM_001852.3:c.846+790T>C,\N,\N,16/31,Benign,\N,intron_variant,0.397,0.4296,1KG_EAS_AF,COL9A2
4005,1:40774837:A>G,NM_001852.3:c.846+773T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,0.028,\N,\N,COL9A2
4006,1:40774844:C>T,NM_001852.3:c.846+766G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,0.767,\N,\N,COL9A2
4007,1:40774861:C>A,NM_001852.3:c.846+749G>T,\N,\N,16/31,Benign,\N,intron_variant,0.024,0.0676,1KG_EUR_AF,COL9A2
4008,1:40774861:C>T,NM_001852.3:c.846+749G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,0.024,\N,\N,COL9A2
4009,1:40774864:G>C,NM_001852.3:c.846+746C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,0.332,\N,\N,COL9A2
4010,1:40774884:C>T,NM_001852.3:c.846+726G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,9.783,\N,\N,COL9A2
4011,1:40774886:T>TG,NM_001852.3:c.846+723dup,\N,\N,16/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4012,1:40774951:T>C,NM_001852.3:c.846+659A>G,\N,\N,16/31,Benign,\N,intron_variant,1.62,0.1838,1KG_AFR_AF,COL9A2
4013,1:40774964:A>G,NM_001852.3:c.846+646T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,1.171,\N,\N,COL9A2
4014,1:40774979:A>G,NM_001852.3:c.846+631T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,0.433,\N,\N,COL9A2
4015,1:40775003:G>C,NM_001852.3:c.846+607C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,0.023,\N,\N,COL9A2
4016,1:40775082:T>G,NM_001852.3:c.846+528A>C,\N,\N,16/31,Benign,\N,intron_variant,0.426,0.6915,1KG_EAS_AF,COL9A2
4017,1:40775083:C>A,NM_001852.3:c.846+527G>T,\N,\N,16/31,Unknown significance,\N,intron_variant,1.984,0.001,1KG_EUR_AF,COL9A2
4018,1:40775095:C>A,NM_001852.3:c.846+515G>T,\N,\N,16/31,Benign,\N,intron_variant,2.789,0.0552,1KG_AFR_AF,COL9A2
4019,1:40775103:TG>T,NM_001852.3:c.846+506del,\N,\N,16/31,Unknown significance,\N,intron_variant,0.486,\N,\N,COL9A2
4020,1:40775104:G>A,NM_001852.3:c.846+506C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,0.272,\N,\N,COL9A2
4021,1:40775105:G>GA,NM_001852.3:c.846+504_846+505insT,\N,\N,16/31,Unknown significance,\N,intron_variant,0.399,\N,\N,COL9A2
4022,1:40775105:G>GAA,NM_001852.3:c.846+504_846+505insTT,\N,\N,16/31,Unknown significance,\N,intron_variant,0.365,\N,\N,COL9A2
4023,1:40775106:G>A,NM_001852.3:c.846+504C>T,\N,\N,16/31,Benign,\N,intron_variant,0.964,0.6915,1KG_EAS_AF,COL9A2
4024,1:40775106:G>GA,NM_001852.3:c.846+503dup,\N,\N,16/31,Unknown significance,\N,intron_variant,0.373,\N,\N,COL9A2
4025,1:40775107:A>G,NM_001852.3:c.846+503T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,0.876,\N,\N,COL9A2
4026,1:40775121:A>G,NM_001852.3:c.846+489T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,10.34,\N,\N,COL9A2
4027,1:40775122:G>A,NM_001852.3:c.846+488C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,12.93,\N,\N,COL9A2
4028,1:40775195:C>G,NM_001852.3:c.846+415G>C,\N,\N,16/31,Benign,\N,intron_variant,14.45,0.0719,1KG_AFR_AF,COL9A2
4029,1:40775218:C>T,NM_001852.3:c.846+392G>A,\N,\N,16/31,Benign,\N,intron_variant,15.52,0.085,1KG_AMR_AF,COL9A2
4030,1:40775229:G>T,NM_001852.3:c.846+381C>A,\N,\N,16/31,Benign,\N,intron_variant,10.76,0.9544,1KG_EAS_AF,COL9A2
4031,1:40775266:ACAGATGGTC>A,NM_001852.3:c.846+335_846+343del,\N,\N,16/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4032,1:40775267:CAGA>C,NM_001852.3:c.846+340_846+342del,\N,\N,16/31,Benign,\N,intron_variant,7.912,0.2988,1KG_AFR_AF,COL9A2
4033,1:40775268:AGATGGTCCTC>TG,NM_001852.3:c.846+332_846+342delinsCA,\N,\N,16/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4034,1:40775269:GATGGTCCTC>G,NM_001852.3:c.846+332_846+340del,\N,\N,16/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4035,1:40775272:GGTCCTC>G,NM_001852.3:c.846+332_846+337del,\N,\N,16/31,Benign,\N,intron_variant,3.671,0.2973,1KG_AFR_AF,COL9A2
4036,1:40775278:C>G,NM_001852.3:c.846+332G>C,\N,\N,16/31,Unknown significance,\N,intron_variant,1.697,\N,\N,COL9A2
4037,1:40775292:C>T,NM_001852.3:c.846+318G>A,\N,\N,16/31,Benign,\N,intron_variant,3.37,0.0106,1KG_AFR_AF,COL9A2
4038,1:40775334:A>G,NM_001852.3:c.846+276T>C,\N,\N,16/31,Benign,\N,intron_variant,1.17,0.0492,1KG_AFR_AF,COL9A2
4039,1:40775346:TCA>T,NM_001852.3:c.846+262_846+263del,\N,\N,16/31,Unknown significance,\N,intron_variant,6.077,\N,\N,COL9A2
4040,1:40775398:C>T,NM_001852.3:c.846+212G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,6.406,0.001,1KG_EAS_AF,COL9A2
4041,1:40775404:C>G,NM_001852.3:c.846+206G>C,\N,\N,16/31,Unknown significance,\N,intron_variant,2.669,\N,\N,COL9A2
4042,1:40775404:CACAG>C,NM_001852.3:c.846+202_846+205del,\N,\N,16/31,Unknown significance,\N,intron_variant,9.113,0.002,1KG_EUR_AF,COL9A2
4043,1:40775430:G>A,NM_001852.3:c.846+180C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,0.773,0.001,1KG_SAS_AF,COL9A2
4044,1:40775442:T>G,NM_001852.3:c.846+168A>C,\N,\N,16/31,Unknown significance,\N,intron_variant,0.303,0.0008,1KG_AFR_AF,COL9A2
4045,1:40775447:TAC>T,NM_001852.3:c.846+161_846+162del,\N,\N,16/31,Unknown significance,\N,intron_variant,7.851,0.002,1KG_EUR_AF,COL9A2
4046,1:40775458:T>TAC,NM_001852.3:c.846+150_846+151dup,\N,\N,16/31,Unknown significance,\N,intron_variant,2.329,\N,\N,COL9A2
4047,1:40775458:TAC>T,NM_001852.3:c.846+150_846+151del,\N,\N,16/31,Unknown significance,\N,intron_variant,8.022,\N,\N,COL9A2
4048,1:40775463:A>T,NM_001852.3:c.846+147T>A,\N,\N,16/31,Unknown significance,\N,intron_variant,0.145,\N,\N,COL9A2
4049,1:40775474:A>T,NM_001852.3:c.846+136T>A,\N,\N,16/31,Unknown significance,\N,intron_variant,0.441,0.0008,1KG_AFR_AF,COL9A2
4050,1:40775476:ACACT>A,NM_001852.3:c.846+130_846+133del,\N,\N,16/31,Unknown significance,\N,intron_variant,9.724,\N,\N,COL9A2
4051,1:40775480:TCA>T,NM_001852.3:c.846+128_846+129del,\N,\N,16/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4052,1:40775502:C>T,NM_001852.3:c.846+108G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,3.716,0.001,1KG_EAS_AF,COL9A2
4053,1:40775506:C>T,NM_001852.3:c.846+104G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,2.431,0.0008,1KG_AFR_AF,COL9A2
4054,1:40775523:TCTCA>T,NM_001852.3:c.846+83_846+86del,\N,\N,16/31,Unknown significance,\N,intron_variant,5.703,\N,\N,COL9A2
4055,1:40775543:G>T,NM_001852.3:c.846+67C>A,\N,\N,16/31,Unknown significance,\N,intron_variant,3.104,0.000722543,EVS_AA_AF,COL9A2
4056,1:40775546:G>C,NM_001852.3:c.846+64C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,1.607,0.0031,1KG_SAS_AF,COL9A2
4057,1:40775558:G>C,NM_001852.3:c.846+52C>G,\N,\N,16/31,Unknown significance,\N,intron_variant,6.591,\N,\N,COL9A2
4058,1:40775561:C>T,NM_001852.3:c.846+49G>A,\N,\N,16/31,Unknown significance,\N,intron_variant,12.23,0.000116279,EVS_EA_AF,COL9A2
4059,1:40775563:G>A,NM_001852.3:c.846+47C>T,\N,\N,16/31,Unknown significance,\N,intron_variant,13.08,0.000060562,EXAC_SAS_AF,COL9A2
4060,1:40775568:C>A,NM_001852.3:c.846+42G>T,\N,\N,16/31,Unknown significance,\N,intron_variant,10.5,\N,\N,COL9A2
4061,1:40775570:C>A,NM_001852.3:c.846+40G>T,\N,\N,16/31,Unknown significance,\N,intron_variant,8.78,0.0000863707,EXAC_AMR_AF,COL9A2
4062,1:40775584:T>C,NM_001852.3:c.846+26A>G,\N,\N,16/31,Unknown significance,\N,intron_variant,7.009,0.000116279,EVS_EA_AF,COL9A2
4063,1:40775588:C>A,NM_001852.3:c.846+22G>T,\N,\N,16/31,Unknown significance,\N,intron_variant,3.786,0.0008,1KG_AFR_AF,COL9A2
4064,1:40775590:A>G,NM_001852.3:c.846+20T>C,\N,\N,16/31,Unknown significance,\N,intron_variant,3.508,0.000115848,EXAC_EAS_AF,COL9A2
4065,1:40775591:T>C,NM_001852.3:c.846+19A>G,\N,\N,16/31,Unknown significance,\N,intron_variant,2.012,0.000231696,EXAC_EAS_AF,COL9A2
4066,1:40775605:CTCACCTCG>C,NM_001852.3:c.843_846+4del,\N,16/32,16/31,Pathogenic,Stickler syndrome,splice_donor_variant&coding_sequence_variant&intron_variant,34,\N,\N,COL9A2
4067,1:40775610:C>T,NM_001852.3:c.846G>A,NP_001843.1:p.Glu282=,16/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,17.2,0.0000300246,EXAC_NFE_AF,COL9A2
4068,1:40775611:T>G,NM_001852.3:c.845A>C,NP_001843.1:p.Glu282Ala,16/32,\N,Likely benign,\N,missense_variant&splice_region_variant,13.15,0.000015011,EXAC_NFE_AF,COL9A2
4069,1:40775612:C>T,NM_001852.3:c.844G>A,NP_001843.1:p.Glu282Lys,16/32,\N,Likely benign,\N,missense_variant&splice_region_variant,14.61,0.000121124,EXAC_SAS_AF,COL9A2
4070,1:40775613:G>A,NM_001852.3:c.843C>T,NP_001843.1:p.Asp281=,16/32,\N,Unknown significance,\N,synonymous_variant,12.67,0.0008,1KG_AFR_AF,COL9A2
4071,1:40775624:C>T,NM_001852.3:c.832G>A,NP_001843.1:p.Glu278Lys,16/32,\N,Unknown significance,\N,missense_variant,24.9,0.0008,1KG_AFR_AF,COL9A2
4072,1:40775625:C>T,NM_001852.3:c.831G>A,NP_001843.1:p.Gly277=,16/32,\N,Unknown significance,\N,synonymous_variant,17.75,0.000116279,EVS_EA_AF,COL9A2
4073,1:40775632:C>T,NM_001852.3:c.824G>A,NP_001843.1:p.Arg275Gln,16/32,\N,Likely benign,\N,missense_variant,24.1,0.000484496,EXAC_SAS_AF,COL9A2
4074,1:40775633:G>A,NM_001852.3:c.823C>T,NP_001843.1:p.Arg275Ter,16/32,\N,Unknown significance,\N,stop_gained,39,0.0000150096,EXAC_NFE_AF,COL9A2
4075,1:40775640:C>A,NM_001852.3:c.816G>T,NP_001843.1:p.Pro272=,16/32,\N,Unknown significance,\N,synonymous_variant,16.32,0.0000150092,EXAC_NFE_AF,COL9A2
4076,1:40775640:C>T,NM_001852.3:c.816G>A,NP_001843.1:p.Pro272=,16/32,\N,Unknown significance,\N,synonymous_variant,15.45,0.00011566,EXAC_EAS_AF,COL9A2
4077,1:40775641:G>A,NM_001852.3:c.815C>T,NP_001843.1:p.Pro272Leu,16/32,\N,Unknown significance,\N,missense_variant,26.2,0.00011566,EXAC_EAS_AF,COL9A2
4078,1:40775653:C>T,NM_001852.3:c.803G>A,NP_001843.1:p.Gly268Asp,16/32,\N,Unknown significance,\N,missense_variant,33,0.000693963,EXAC_EAS_AF,COL9A2
4079,1:40775654:C>T,NM_001852.3:c.802G>A,NP_001843.1:p.Gly268Ser,16/32,\N,Unknown significance,\N,missense_variant,33,0.00011566,EXAC_EAS_AF,COL9A2
4080,1:40775658:C>T,NM_001852.3:c.798G>A,NP_001843.1:p.Glu266=,16/32,\N,Unknown significance,\N,synonymous_variant,15.45,0.0000150024,EXAC_NFE_AF,COL9A2
4081,1:40775669:A>G,NM_001852.3:c.793-6T>C,\N,\N,15/31,Unknown significance,\N,splice_region_variant&intron_variant,13.09,\N,\N,COL9A2
4082,1:40775675:G>A,NM_001852.3:c.793-12C>T,\N,\N,15/31,Unknown significance,\N,intron_variant,15.16,0.0008,1KG_AFR_AF,COL9A2
4083,1:40775687:T>C,NM_001852.3:c.793-24A>G,\N,\N,15/31,Unknown significance,\N,intron_variant,10.06,0.000116279,EVS_EA_AF,COL9A2
4084,1:40775701:G>C,NM_001852.3:c.793-38C>G,\N,\N,15/31,Unknown significance,\N,intron_variant,3.954,0.0000149961,EXAC_NFE_AF,COL9A2
4085,1:40775702:C>T,NM_001852.3:c.793-39G>A,\N,\N,15/31,Unknown significance,\N,intron_variant,6.506,0.0000149966,EXAC_NFE_AF,COL9A2
4086,1:40775704:CA>C,NM_001852.3:c.793-42del,\N,\N,15/31,Unknown significance,\N,intron_variant,9.271,0.0000149975,EXAC_NFE_AF,COL9A2
4087,1:40775704:C>T,NM_001852.3:c.793-41G>A,\N,\N,15/31,Unknown significance,\N,intron_variant,6.923,0.0000149975,EXAC_NFE_AF,COL9A2
4088,1:40775705:A>T,NM_001852.3:c.793-42T>A,\N,\N,15/31,Unknown significance,\N,intron_variant,7.11,0.000192382,EXAC_AFR_AF,COL9A2
4089,1:40775707:G>T,NM_001852.3:c.793-44C>A,\N,\N,15/31,Unknown significance,\N,intron_variant,6.794,0.0000149961,EXAC_NFE_AF,COL9A2
4090,1:40775708:G>C,NM_001852.3:c.793-45C>G,\N,\N,15/31,Unknown significance,\N,intron_variant,5.51,\N,\N,COL9A2
4091,1:40775711:A>G,NM_001852.3:c.793-48T>C,\N,\N,15/31,Unknown significance,\N,intron_variant,7.328,0.000697674,EVS_EA_AF,COL9A2
4092,1:40775716:T>C,NM_001852.3:c.793-53A>G,\N,\N,15/31,Unknown significance,\N,intron_variant,1.048,0.0029,1KG_AMR_AF,COL9A2
4093,1:40775742:G>C,NM_001852.3:c.792+41C>G,\N,\N,15/31,Unknown significance,\N,intron_variant,8.303,0.000060562,EXAC_SAS_AF,COL9A2
4094,1:40775752:C>T,NM_001852.3:c.792+31G>A,\N,\N,15/31,Unknown significance,\N,intron_variant,10.14,0.00011566,EXAC_EAS_AF,COL9A2
4095,1:40775757:G>C,NM_001852.3:c.792+26C>G,\N,\N,15/31,Unknown significance,\N,intron_variant,2.681,0.001,1KG_EUR_AF,COL9A2
4096,1:40775759:G>A,NM_001852.3:c.792+24C>T,\N,\N,15/31,Benign,\N,intron_variant,5.31,0.1029,1KG_AFR_AF,COL9A2
4097,1:40775763:G>A,NM_001852.3:c.792+20C>T,\N,\N,15/31,Unknown significance,\N,intron_variant,3.642,0.00204267,EVS_AA_AF,COL9A2
4098,1:40775765:G>A,NM_001852.3:c.792+18C>T,\N,\N,15/31,Unknown significance,\N,intron_variant,4.602,0.00221239,EXAC_OTH_AF,COL9A2
4099,1:40775767:G>A,NM_001852.3:c.792+16C>T,\N,\N,15/31,Benign,\N,intron_variant,3.148,0.1694,1KG_AFR_AF,COL9A2
4100,1:40775771:A>C,NM_001852.3:c.792+12T>G,\N,\N,15/31,Unknown significance,\N,intron_variant,0.734,0.000060562,EXAC_SAS_AF,COL9A2
4101,1:40775783:C>T,NM_001852.3:c.792G>A,NP_001843.1:p.Pro264=,15/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,6.799,0.000121124,EXAC_SAS_AF,COL9A2
4102,1:40775784:G>A,NM_001852.3:c.791C>T,NP_001843.1:p.Pro264Leu,15/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.4,0.0014,1KG_AMR_AF,COL9A2
4103,1:40775800:C>T,NM_001852.3:c.775G>A,NP_001843.1:p.Gly259Ser,15/32,\N,Unknown significance,\N,missense_variant,27.2,0.00363141,EVS_AA_AF,COL9A2
4104,1:40775801:G>A,NM_001852.3:c.774C>T,NP_001843.1:p.Ile258=,15/32,\N,Unknown significance,\N,synonymous_variant,8.188,0.00110619,EXAC_OTH_AF,COL9A2
4105,1:40775803:T>C,NM_001852.3:c.772A>G,NP_001843.1:p.Ile258Val,15/32,\N,Likely benign,\N,missense_variant,0.001,0.000060562,EXAC_SAS_AF,COL9A2
4106,1:40775806:C>T,NM_001852.3:c.769G>A,NP_001843.1:p.Ala257Thr,15/32,\N,Likely benign,\N,missense_variant,11.74,0.000116279,EVS_EA_AF,COL9A2
4107,1:40775807:G>A,NM_001852.3:c.768C>T,NP_001843.1:p.Gly256=,15/32,\N,Unknown significance,\N,synonymous_variant,12.51,0.00110619,EXAC_OTH_AF,COL9A2
4108,1:40775812:C>T,NM_001852.3:c.763G>A,NP_001843.1:p.Val255Met,15/32,\N,Likely benign,\N,missense_variant,24,0.000060562,EXAC_SAS_AF,COL9A2
4109,1:40775816:G>A,NM_001852.3:c.759C>T,NP_001843.1:p.Gly253=,15/32,\N,Unknown significance,\N,synonymous_variant,13.24,0.000121124,EXAC_SAS_AF,COL9A2
4110,1:40775828:A>C,NM_001852.3:c.747T>G,NP_001843.1:p.His249Gln,15/32,\N,Likely benign,\N,missense_variant,11.1,0.00015124,EXAC_FIN_AF,COL9A2
4111,1:40775828:A>G,NM_001852.3:c.747T>C,NP_001843.1:p.His249=,15/32,\N,Unknown significance,\N,synonymous_variant,5.277,0.000014993,EXAC_NFE_AF,COL9A2
4112,1:40775833:G>C,NM_001852.3:c.742C>G,NP_001843.1:p.Pro248Ala,15/32,\N,Unknown significance,\N,missense_variant,17.16,0.0000605694,EXAC_SAS_AF,COL9A2
4113,1:40775833:G>T,NM_001852.3:c.742C>A,NP_001843.1:p.Pro248Thr,15/32,\N,Unknown significance,\N,missense_variant,22.9,0.0000149943,EXAC_NFE_AF,COL9A2
4114,1:40775834:G>T,NM_001852.3:c.741C>A,NP_001843.1:p.Gly247=,15/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,7.732,0.0000961908,EXAC_AFR_AF,COL9A2
4115,1:40775846:G>A,NM_001852.3:c.739-10C>T,\N,\N,14/31,Unknown significance,\N,intron_variant,4.847,0.0000149934,EXAC_NFE_AF,COL9A2
4116,1:40775852:G>T,NM_001852.3:c.739-16C>A,\N,\N,14/31,Unknown significance,\N,intron_variant,0.509,0.000121139,EXAC_SAS_AF,COL9A2
4117,1:40775859:G>T,NM_001852.3:c.739-23C>A,\N,\N,14/31,Unknown significance,\N,intron_variant,3.629,0.000462856,EXAC_EAS_AF,COL9A2
4118,1:40775871:C>A,NM_001852.3:c.739-35G>T,\N,\N,14/31,Unknown significance,\N,intron_variant,7.36,0.0000605694,EXAC_SAS_AF,COL9A2
4119,1:40775871:C>G,NM_001852.3:c.739-35G>C,\N,\N,14/31,Unknown significance,\N,intron_variant,6.799,0.0000149939,EXAC_NFE_AF,COL9A2
4120,1:40775876:C>G,NM_001852.3:c.739-40G>C,\N,\N,14/31,Unknown significance,\N,intron_variant,6.535,0.0000149939,EXAC_NFE_AF,COL9A2
4121,1:40775882:G>A,NM_001852.3:c.739-46C>T,\N,\N,14/31,Unknown significance,\N,intron_variant,10.94,0.0000961723,EXAC_AFR_AF,COL9A2
4122,1:40775889:A>G,NM_001852.3:c.738+47T>C,\N,\N,14/31,Unknown significance,\N,intron_variant,8.18,0.0000961908,EXAC_AFR_AF,COL9A2
4123,1:40775891:G>C,NM_001852.3:c.738+45C>G,\N,\N,14/31,Unknown significance,\N,intron_variant,1.94,0.000115687,EXAC_EAS_AF,COL9A2
4124,1:40775892:G>A,NM_001852.3:c.738+44C>T,\N,\N,14/31,Unknown significance,\N,intron_variant,4.874,0.000232558,EVS_EA_AF,COL9A2
4125,1:40775893:CA>C,NM_001852.3:c.738+42del,\N,\N,14/31,Unknown significance,\N,intron_variant,1.397,0.0000149948,EXAC_NFE_AF,COL9A2
4126,1:40775898:C>A,NM_001852.3:c.738+38G>T,\N,\N,14/31,Unknown significance,\N,intron_variant,9.385,0.0000149957,EXAC_NFE_AF,COL9A2
4127,1:40775901:G>A,NM_001852.3:c.738+35C>T,\N,\N,14/31,Unknown significance,\N,intron_variant,8.648,0.000384911,EXAC_AFR_AF,COL9A2
4128,1:40775902:G>A,NM_001852.3:c.738+34C>T,\N,\N,14/31,Unknown significance,\N,intron_variant,8.263,0.0000864454,EXAC_AMR_AF,COL9A2
4129,1:40775908:C>G,NM_001852.3:c.738+28G>C,\N,\N,14/31,Benign,\N,intron_variant,7.038,0.0091,1KG_AFR_AF,COL9A2
4130,1:40775909:T>C,NM_001852.3:c.738+27A>G,\N,\N,14/31,Unknown significance,\N,intron_variant,6.239,0.000115687,EXAC_EAS_AF,COL9A2
4131,1:40775910:T>C,NM_001852.3:c.738+26A>G,\N,\N,14/31,Unknown significance,\N,intron_variant,6.04,0.0000149984,EXAC_NFE_AF,COL9A2
4132,1:40775915:A>T,NM_001852.3:c.738+21T>A,\N,\N,14/31,Unknown significance,\N,intron_variant,1.892,0.0000149984,EXAC_NFE_AF,COL9A2
4133,1:40775921:C>T,NM_001852.3:c.738+15G>A,\N,\N,14/31,Unknown significance,\N,intron_variant,6.741,0.000462856,EXAC_EAS_AF,COL9A2
4134,1:40775922:C>T,NM_001852.3:c.738+14G>A,\N,\N,14/31,Unknown significance,\N,intron_variant,2.789,0.00110132,EXAC_OTH_AF,COL9A2
4135,1:40775926:A>G,NM_001852.3:c.738+10T>C,\N,\N,14/31,Benign,\N,intron_variant,4.654,0.0703692,EXAC_FIN_AF,COL9A2
4136,1:40775937:G>A,NM_001852.3:c.737C>T,NP_001843.1:p.Thr246Met,14/32,\N,Benign,\N,missense_variant&splice_region_variant,17.52,0.0401272,EXAC_FIN_AF,COL9A2
4137,1:40775943:C>T,NM_001852.3:c.731G>A,NP_001843.1:p.Gly244Glu,14/32,\N,Unknown significance,\N,missense_variant,25.4,0.0000150056,EXAC_NFE_AF,COL9A2
4138,1:40775950:G>A,NM_001852.3:c.724C>T,NP_001843.1:p.Pro242Ser,14/32,\N,Unknown significance,\N,missense_variant,21.9,0.0000150313,EXAC_NFE_AF,COL9A2
4139,1:40775960:G>A,NM_001852.3:c.714C>T,NP_001843.1:p.Gly238=,14/32,\N,Unknown significance,\N,synonymous_variant,8.744,0.0000864454,EXAC_AMR_AF,COL9A2
4140,1:40775960:G>C,NM_001852.3:c.714C>G,NP_001843.1:p.Gly238=,14/32,\N,Unknown significance,\N,synonymous_variant,1.89,0.000115848,EXAC_EAS_AF,COL9A2
4141,1:40775963:T>C,NM_001852.3:c.711A>G,NP_001843.1:p.Pro237=,14/32,\N,Unknown significance,\N,synonymous_variant,0.17,0.0000150074,EXAC_NFE_AF,COL9A2
4142,1:40775969:G>A,NM_001852.3:c.705C>T,NP_001843.1:p.Gly235=,14/32,\N,Unknown significance,\N,synonymous_variant,8.7,\N,\N,COL9A2
4143,1:40775975:G>A,NM_001852.3:c.699C>T,NP_001843.1:p.Ile233=,14/32,\N,Unknown significance,\N,synonymous_variant,9.885,0.0000150155,EXAC_NFE_AF,COL9A2
4144,1:40775980:C>T,NM_001852.3:c.694G>A,NP_001843.1:p.Gly232Ser,14/32,\N,Unknown significance,\N,missense_variant,31,0.0008,1KG_AFR_AF,COL9A2
4145,1:40775985:G>A,NM_001852.3:c.689C>T,NP_001843.1:p.Pro230Leu,14/32,\N,Unknown significance,\N,missense_variant,27.5,0.000231589,EXAC_EAS_AF,COL9A2
4146,1:40775986:G>A,NM_001852.3:c.688C>T,NP_001843.1:p.Pro230Ser,14/32,\N,Unknown significance,\N,missense_variant,23.8,\N,\N,COL9A2
4147,1:40775993:T>C,NM_001852.3:c.685-4A>G,\N,\N,13/31,Unknown significance,\N,splice_region_variant&intron_variant,5.889,0.0000150308,EXAC_NFE_AF,COL9A2
4148,1:40775995:G>A,NM_001852.3:c.685-6C>T,\N,\N,13/31,Unknown significance,\N,splice_region_variant&intron_variant,4.462,0.0000150331,EXAC_NFE_AF,COL9A2
4149,1:40776001:GA>G,NM_001852.3:c.685-13del,\N,\N,13/31,Unknown significance,\N,intron_variant,0.39,0.000115794,EXAC_EAS_AF,COL9A2
4150,1:40776002:A>G,NM_001852.3:c.685-13T>C,\N,\N,13/31,Unknown significance,\N,intron_variant,1.172,0.000115848,EXAC_EAS_AF,COL9A2
4151,1:40776008:G>A,NM_001852.3:c.685-19C>T,\N,\N,13/31,Unknown significance,\N,intron_variant,4.921,0.000347544,EXAC_EAS_AF,COL9A2
4152,1:40776021:A>G,NM_001852.3:c.685-32T>C,\N,\N,13/31,Unknown significance,\N,intron_variant,7.435,0.00223214,EXAC_OTH_AF,COL9A2
4153,1:40776024:G>A,NM_001852.3:c.685-35C>T,\N,\N,13/31,Unknown significance,\N,intron_variant,6.825,0.0000150621,EXAC_NFE_AF,COL9A2
4154,1:40776034:C>T,NM_001852.3:c.685-45G>A,\N,\N,13/31,Unknown significance,\N,intron_variant,3.275,0.001,1KG_SAS_AF,COL9A2
4155,1:40776045:C>T,NM_001852.3:c.685-56G>A,\N,\N,13/31,Unknown significance,\N,intron_variant,5.424,0.002,1KG_EAS_AF,COL9A2
4156,1:40776054:T>A,NM_001852.3:c.685-65A>T,\N,\N,13/31,Benign,\N,intron_variant,2.796,0.1052,1KG_AMR_AF,COL9A2
4157,1:40776110:A>C,NM_001852.3:c.685-121T>G,\N,\N,13/31,Unknown significance,\N,intron_variant,0.582,\N,\N,COL9A2
4158,1:40776236:C>A,NM_001852.3:c.684+150G>T,\N,\N,13/31,Unknown significance,\N,intron_variant,10.44,0.0008,1KG_AFR_AF,COL9A2
4159,1:40776240:T>C,NM_001852.3:c.684+146A>G,\N,\N,13/31,Benign,\N,intron_variant,5.62,0.0719,1KG_AFR_AF,COL9A2
4160,1:40776296:T>C,NM_001852.3:c.684+90A>G,\N,\N,13/31,Unknown significance,\N,intron_variant,13.78,\N,\N,COL9A2
4161,1:40776318:G>A,NM_001852.3:c.684+68C>T,\N,\N,13/31,Benign,\N,intron_variant,11.96,0.0169,1KG_EAS_AF,COL9A2
4162,1:40776324:G>T,NM_001852.3:c.684+62C>A,\N,\N,13/31,Unknown significance,\N,intron_variant,10.05,0.00216763,EVS_AA_AF,COL9A2
4163,1:40776333:A>G,NM_001852.3:c.684+53T>C,\N,\N,13/31,Unknown significance,\N,intron_variant,8.281,0.0031,1KG_SAS_AF,COL9A2
4164,1:40776336:G>C,NM_001852.3:c.684+50C>G,\N,\N,13/31,Unknown significance,\N,intron_variant,2.667,0.000123031,EXAC_SAS_AF,COL9A2
4165,1:40776337:G>A,NM_001852.3:c.684+49C>T,\N,\N,13/31,Unknown significance,\N,intron_variant,4.946,\N,\N,COL9A2
4166,1:40776340:C>T,NM_001852.3:c.684+46G>A,\N,\N,13/31,Unknown significance,\N,intron_variant,3.211,0.0000713063,EXAC_NFE_AF,COL9A2
4167,1:40776354:G>T,NM_001852.3:c.684+32C>A,\N,\N,13/31,Unknown significance,\N,intron_variant,11.18,0.00263312,EXAC_AFR_AF,COL9A2
4168,1:40776359:G>C,NM_001852.3:c.684+27C>G,\N,\N,13/31,Unknown significance,\N,intron_variant,10.01,0.000454752,EVS_AA_AF,COL9A2
4169,1:40776371:C>T,NM_001852.3:c.684+15G>A,\N,\N,13/31,Unknown significance,\N,intron_variant,2.227,0.0000732064,EXAC_NFE_AF,COL9A2
4170,1:40776386:C>T,NM_001852.3:c.684G>A,NP_001843.1:p.Pro228=,13/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,18.89,0.000302847,EXAC_AFR_AF,COL9A2
4171,1:40776387:G>A,NM_001852.3:c.683C>T,NP_001843.1:p.Pro228Leu,13/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,\N,\N,COL9A2
4172,1:40776388:G>A,NM_001852.3:c.682C>T,NP_001843.1:p.Pro228Ser,13/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.8,0.00420875,EXAC_EAS_AF,COL9A2
4173,1:40776403:C>T,NM_001852.3:c.667G>A,NP_001843.1:p.Gly223Ser,13/32,\N,Unknown significance,\N,missense_variant,34,0.0000782595,EXAC_NFE_AF,COL9A2
4174,1:40776408:T>C,NM_001852.3:c.662A>G,NP_001843.1:p.Glu221Gly,13/32,\N,Unknown significance,\N,missense_variant,24.9,0.0000795039,EXAC_NFE_AF,COL9A2
4175,1:40776411:C>G,NM_001852.3:c.659G>C,NP_001843.1:p.Gly220Ala,13/32,\N,Unknown significance,\N,missense_variant,27.1,\N,\N,COL9A2
4176,1:40776422:C>G,NM_001852.3:c.648G>C,NP_001843.1:p.Val216=,13/32,\N,Unknown significance,\N,synonymous_variant,12.22,\N,\N,COL9A2
4177,1:40776426:T>C,NM_001852.3:c.644A>G,NP_001843.1:p.Asp215Gly,13/32,\N,Unknown significance,\N,missense_variant,25.5,0.0000834585,EXAC_NFE_AF,COL9A2
4178,1:40776445:G>A,NM_001852.3:c.631-6C>T,\N,\N,12/31,Unknown significance,\N,splice_region_variant&intron_variant,13.31,\N,\N,COL9A2
4179,1:40776446:G>C,NM_001852.3:c.631-7C>G,\N,\N,12/31,Unknown significance,\N,splice_region_variant&intron_variant,11.3,\N,\N,COL9A2
4180,1:40776450:G>T,NM_001852.3:c.631-11C>A,\N,\N,12/31,Unknown significance,\N,intron_variant,16.32,0.00114679,EXAC_EAS_AF,COL9A2
4181,1:40776451:G>C,NM_001852.3:c.631-12C>G,\N,\N,12/31,Unknown significance,\N,intron_variant,15.22,0.00116009,EXAC_EAS_AF,COL9A2
4182,1:40776490:T>C,NM_001852.3:c.631-51A>G,\N,\N,12/31,Unknown significance,\N,intron_variant,4.402,\N,\N,COL9A2
4183,1:40776513:C>T,NM_001852.3:c.631-74G>A,\N,\N,12/31,Benign,\N,intron_variant,2.277,0.1868,1KG_AFR_AF,COL9A2
4184,1:40776612:A>G,NM_001852.3:c.630+153T>C,\N,\N,12/31,Unknown significance,\N,intron_variant,3.361,0.001,1KG_SAS_AF,COL9A2
4185,1:40776613:C>T,NM_001852.3:c.630+152G>A,\N,\N,12/31,Unknown significance,\N,intron_variant,6.63,0.0014,1KG_AMR_AF,COL9A2
4186,1:40776645:C>T,NM_001852.3:c.630+120G>A,\N,\N,12/31,Unknown significance,\N,intron_variant,9.851,0.0015,1KG_AFR_AF,COL9A2
4187,1:40776672:A>T,NM_001852.3:c.630+93T>A,\N,\N,12/31,Unknown significance,\N,intron_variant,10.23,0.003,1KG_EAS_AF,COL9A2
4188,1:40776678:G>A,NM_001852.3:c.630+87C>T,\N,\N,12/31,Unknown significance,\N,intron_variant,6.751,0.002,1KG_EAS_AF,COL9A2
4189,1:40776688:G>T,NM_001852.3:c.630+77C>A,\N,\N,12/31,Unknown significance,\N,intron_variant,4.482,\N,\N,COL9A2
4190,1:40776691:C>T,NM_001852.3:c.630+74G>A,\N,\N,12/31,Benign,\N,intron_variant,9.771,0.0429,1KG_SAS_AF,COL9A2
4191,1:40776692:G>A,NM_001852.3:c.630+73C>T,\N,\N,12/31,Unknown significance,\N,intron_variant,8.286,\N,\N,COL9A2
4192,1:40776724:C>G,NM_001852.3:c.630+41G>C,\N,\N,12/31,Unknown significance,\N,intron_variant,2.274,0.000044964,EXAC_NFE_AF,COL9A2
4193,1:40776724:C>T,NM_001852.3:c.630+41G>A,\N,\N,12/31,Benign,\N,intron_variant,4.782,0.0185365,EXAC_SAS_AF,COL9A2
4194,1:40776727:C>T,NM_001852.3:c.630+38G>A,\N,\N,12/31,Unknown significance,\N,intron_variant,6.408,0.000119911,EXAC_NFE_AF,COL9A2
4195,1:40776728:G>A,NM_001852.3:c.630+37C>T,\N,\N,12/31,Unknown significance,\N,intron_variant,4.719,0.00197674,EVS_EA_AF,COL9A2
4196,1:40776733:C>T,NM_001852.3:c.630+32G>A,\N,\N,12/31,Unknown significance,\N,intron_variant,6.492,0.00022482,EXAC_NFE_AF,COL9A2
4197,1:40776739:C>G,NM_001852.3:c.630+26G>C,\N,\N,12/31,Unknown significance,\N,intron_variant,5.688,0.000151515,EXAC_FIN_AF,COL9A2
4198,1:40776751:G>A,NM_001852.3:c.630+14C>T,\N,\N,12/31,Unknown significance,\N,intron_variant,9.46,0.000014988,EXAC_NFE_AF,COL9A2
4199,1:40776752:C>A,NM_001852.3:c.630+13G>T,\N,\N,12/31,Benign,\N,intron_variant,12.3,0.4266,1KG_EAS_AF,COL9A2
4200,1:40776752:C>G,NM_001852.3:c.630+13G>C,\N,\N,12/31,Unknown significance,\N,intron_variant,10.05,0.0000149894,EXAC_NFE_AF,COL9A2
4201,1:40776753:C>T,NM_001852.3:c.630+12G>A,\N,\N,12/31,Unknown significance,\N,intron_variant,11.86,\N,\N,COL9A2
4202,1:40776757:G>A,NM_001852.3:c.630+8C>T,\N,\N,12/31,Unknown significance,\N,splice_region_variant&intron_variant,7.616,0.000116279,EVS_EA_AF,COL9A2
4203,1:40776766:G>A,NM_001852.3:c.629C>T,NP_001843.1:p.Pro210Leu,12/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,27,0.00110619,EXAC_OTH_AF,COL9A2
4204,1:40776773:C>G,NM_001852.3:c.622G>C,NP_001843.1:p.Gly208Arg,12/32,\N,Unknown significance,\N,missense_variant,34,0.0000149867,EXAC_NFE_AF,COL9A2
4205,1:40776780:G>T,NM_001852.3:c.615C>A,NP_001843.1:p.Gly205=,12/32,\N,Unknown significance,\N,synonymous_variant,9.938,0.000115554,EXAC_EAS_AF,COL9A2
4206,1:40776782:C>CAGG,NM_001852.3:c.610_612dup,NP_001843.1:p.Pro204dup,12/32,\N,Unknown significance,\N,inframe_insertion,22.9,\N,\N,COL9A2
4207,1:40776801:G>A,NM_001852.3:c.594C>T,NP_001843.1:p.Arg198=,12/32,\N,Unknown significance,\N,synonymous_variant,9.327,0.000231107,EXAC_EAS_AF,COL9A2
4208,1:40776802:C>T,NM_001852.3:c.593G>A,NP_001843.1:p.Arg198His,12/32,\N,Likely benign,\N,missense_variant,25.1,\N,\N,COL9A2
4209,1:40776803:G>A,NM_001852.3:c.592C>T,NP_001843.1:p.Arg198Cys,12/32,\N,Unknown significance,\N,missense_variant,25.7,0.000121139,EXAC_SAS_AF,COL9A2
4210,1:40776809:C>T,NM_001852.3:c.586G>A,NP_001843.1:p.Gly196Ser,12/32,\N,Unknown significance,\N,missense_variant,28.1,0.0000149871,EXAC_NFE_AF,COL9A2
4211,1:40776810:C>T,NM_001852.3:c.585G>A,NP_001843.1:p.Ala195=,12/32,\N,Unknown significance,\N,synonymous_variant,14.11,0.0000605694,EXAC_SAS_AF,COL9A2
4212,1:40776811:G>A,NM_001852.3:c.584C>T,NP_001843.1:p.Ala195Val,12/32,\N,Likely benign,\N,missense_variant,15.33,0.000115554,EXAC_EAS_AF,COL9A2
4213,1:40776811:G>T,NM_001852.3:c.584C>A,NP_001843.1:p.Ala195Glu,12/32,\N,Likely benign,\N,missense_variant,12.85,0.000346661,EXAC_EAS_AF,COL9A2
4214,1:40776816:C>T,NM_001852.3:c.579G>A,NP_001843.1:p.Gly193=,12/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.61,0.000192234,EXAC_AFR_AF,COL9A2
4215,1:40776836:G>A,NM_001852.3:c.577-18C>T,\N,\N,11/31,Unknown significance,\N,intron_variant,8.17,0.00017301,EXAC_AMR_AF,COL9A2
4216,1:40776841:A>G,NM_001852.3:c.577-23T>C,\N,\N,11/31,Unknown significance,\N,intron_variant,4.801,0.0000605987,EXAC_SAS_AF,COL9A2
4217,1:40776844:C>A,NM_001852.3:c.577-26G>T,\N,\N,11/31,Unknown significance,\N,intron_variant,7.718,0.0000865351,EXAC_AMR_AF,COL9A2
4218,1:40776844:C>T,NM_001852.3:c.577-26G>A,\N,\N,11/31,Unknown significance,\N,intron_variant,7.422,0.0000149943,EXAC_NFE_AF,COL9A2
4219,1:40776845:G>A,NM_001852.3:c.577-27C>T,\N,\N,11/31,Unknown significance,\N,intron_variant,7.51,0.0000449816,EXAC_NFE_AF,COL9A2
4220,1:40776847:G>T,NM_001852.3:c.577-29C>A,\N,\N,11/31,Unknown significance,\N,intron_variant,3.968,0.0000149957,EXAC_NFE_AF,COL9A2
4221,1:40776848:G>T,NM_001852.3:c.577-30C>A,\N,\N,11/31,Benign,\N,intron_variant,1.163,0.0144,1KG_AMR_AF,COL9A2
4222,1:40776851:C>T,NM_001852.3:c.577-33G>A,\N,\N,11/31,Unknown significance,\N,intron_variant,7.86,0.00023116,EXAC_EAS_AF,COL9A2
4223,1:40776855:C>T,NM_001852.3:c.577-37G>A,\N,\N,11/31,Unknown significance,\N,intron_variant,7.755,0.0000961354,EXAC_AFR_AF,COL9A2
4224,1:40776892:G>A,NM_001852.3:c.576+10C>T,\N,\N,11/31,Unknown significance,\N,intron_variant,5.801,0.0000150286,EXAC_NFE_AF,COL9A2
4225,1:40776902:C>T,NM_001852.3:c.576G>A,NP_001843.1:p.Lys192=,11/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,19.5,0.000365408,EXAC_SAS_AF,COL9A2
4226,1:40776907:C>T,NM_001852.3:c.571G>A,NP_001843.1:p.Val191Met,11/32,\N,Unknown significance,\N,missense_variant,23.5,0.000116279,EVS_EA_AF,COL9A2
4227,1:40776910:C>A,NM_001852.3:c.568G>T,NP_001843.1:p.Gly190Ter,11/32,\N,Unknown significance,\N,stop_gained,39,0.0008,1KG_AFR_AF,COL9A2
4228,1:40776916:G>T,NM_001852.3:c.562C>A,NP_001843.1:p.Leu188Met,11/32,\N,Benign,\N,missense_variant,23.7,0.0068,1KG_AFR_AF,COL9A2
4229,1:40776920:T>TGG,NM_001852.3:c.556_557dup,NP_001843.1:p.Gly187GlnfsTer6,11/32,\N,Unknown significance,\N,frameshift_variant,24.4,0.000015114,EXAC_NFE_AF,COL9A2
4230,1:40776925:G>C,NM_001852.3:c.553C>G,NP_001843.1:p.Pro185Ala,11/32,\N,Unknown significance,\N,missense_variant,15.74,0.0000151414,EXAC_NFE_AF,COL9A2
4231,1:40776929:T>C,NM_001852.3:c.549A>G,NP_001843.1:p.Lys183=,11/32,\N,Unknown significance,\N,synonymous_variant,0.606,0.000116577,EXAC_EAS_AF,COL9A2
4232,1:40776934:T>C,NM_001852.3:c.544A>G,NP_001843.1:p.Met182Val,11/32,\N,Benign,\N,missense_variant,0.002,0.0289898,EXAC_AFR_AF,COL9A2
4233,1:40776937:C>T,NM_001852.3:c.541G>A,NP_001843.1:p.Gly181Arg,11/32,\N,Unknown significance,\N,missense_variant,28,0.0000459404,EXAC_NFE_AF,COL9A2
4234,1:40776938:G>A,NM_001852.3:c.540C>T,NP_001843.1:p.Pro180=,11/32,\N,Unknown significance,\N,synonymous_variant,7.166,0.0000612989,EXAC_NFE_AF,COL9A2
4235,1:40776940:G>T,NM_001852.3:c.538C>A,NP_001843.1:p.Pro180Thr,11/32,\N,Likely benign,\N,missense_variant,10.83,0.0000893975,EXAC_AMR_AF,COL9A2
4236,1:40776944:A>G,NM_001852.3:c.534T>C,NP_001843.1:p.Cys178=,11/32,\N,Unknown significance,\N,synonymous_variant,4.644,0.000030909,EXAC_NFE_AF,COL9A2
4237,1:40776947:G>A,NM_001852.3:c.531C>T,NP_001843.1:p.Asn177=,11/32,\N,Unknown significance,\N,synonymous_variant,5.706,0.001,1KG_SAS_AF,COL9A2
4238,1:40776958:A>G,NM_001852.3:c.520T>C,NP_001843.1:p.Cys174Arg,11/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.1,0.0000158917,EXAC_NFE_AF,COL9A2
4239,1:40776968:GAAAATCCCAC>G,NM_001852.3:c.520-20_520-11del,\N,\N,10/31,Unknown significance,\N,intron_variant,11.97,\N,\N,COL9A2
4240,1:40776971:A>G,NM_001852.3:c.520-13T>C,\N,\N,10/31,Unknown significance,\N,intron_variant,2.982,0.000128535,EXAC_EAS_AF,COL9A2
4241,1:40776994:G>C,NM_001852.3:c.520-36C>G,\N,\N,10/31,Unknown significance,\N,intron_variant,2.687,0.0000679995,EXAC_SAS_AF,COL9A2
4242,1:40777005:C>T,NM_001852.3:c.520-47G>A,\N,\N,10/31,Unknown significance,\N,intron_variant,5.772,0.000155376,EXAC_EAS_AF,COL9A2
4243,1:40777006:G>A,NM_001852.3:c.520-48C>T,\N,\N,10/31,Unknown significance,\N,intron_variant,2.984,0.000156937,EXAC_EAS_AF,COL9A2
4244,1:40777026:C>T,NM_001852.3:c.520-68G>A,\N,\N,10/31,Unknown significance,\N,intron_variant,2.98,\N,\N,COL9A2
4245,1:40777049:G>A,NM_001852.3:c.520-91C>T,\N,\N,10/31,Unknown significance,\N,intron_variant,3.117,0.001,1KG_EUR_AF,COL9A2
4246,1:40777094:C>G,NM_001852.3:c.519+78G>C,\N,\N,10/31,Unknown significance,\N,intron_variant,5.338,0.001,1KG_EUR_AF,COL9A2
4247,1:40777101:C>T,NM_001852.3:c.519+71G>A,\N,\N,10/31,Unknown significance,\N,intron_variant,5.307,\N,\N,COL9A2
4248,1:40777104:G>A,NM_001852.3:c.519+68C>T,\N,\N,10/31,Unknown significance,\N,intron_variant,7.56,0.0008,1KG_AFR_AF,COL9A2
4249,1:40777109:C>T,NM_001852.3:c.519+63G>A,\N,\N,10/31,Unknown significance,\N,intron_variant,7.983,0.001,1KG_EAS_AF,COL9A2
4250,1:40777125:T>C,NM_001852.3:c.519+47A>G,\N,\N,10/31,Unknown significance,\N,intron_variant,3.144,0.000116604,EVS_EA_AF,COL9A2
4251,1:40777126:GGCCCCGCCCCCCTGTGTTA>G,NM_001852.3:c.519+27_519+45del,\N,\N,10/31,Unknown significance,\N,intron_variant,9.822,\N,\N,COL9A2
4252,1:40777128:C>T,NM_001852.3:c.519+44G>A,\N,\N,10/31,Unknown significance,\N,intron_variant,7.444,0.000179147,EXAC_AMR_AF,COL9A2
4253,1:40777130:C>A,NM_001852.3:c.519+42G>T,\N,\N,10/31,Unknown significance,\N,intron_variant,7.698,0.001,1KG_SAS_AF,COL9A2
4254,1:40777132:G>C,NM_001852.3:c.519+40C>G,\N,\N,10/31,Benign,\N,intron_variant,3.14,0.0231579,EXAC_SAS_AF,COL9A2
4255,1:40777132:GC>G,NM_001852.3:c.519+39del,\N,\N,10/31,Benign,\N,intron_variant,3.186,0.0711741,EXAC_SAS_AF,COL9A2
4256,1:40777137:CCT>C,NM_001852.3:c.519+33_519+34del,\N,\N,10/31,Unknown significance,\N,intron_variant,7.349,0.0000780689,EXAC_NFE_AF,COL9A2
4257,1:40777138:C>A,NM_001852.3:c.519+34G>T,\N,\N,10/31,Unknown significance,\N,intron_variant,6.257,0.000015571,EXAC_NFE_AF,COL9A2
4258,1:40777138:CTG>C,NM_001852.3:c.519+32_519+33del,\N,\N,10/31,Benign,\N,intron_variant,5.26,0.0272308,EXAC_FIN_AF,COL9A2
4259,1:40777138:C>T,NM_001852.3:c.519+34G>A,\N,\N,10/31,Unknown significance,\N,intron_variant,5.61,0.000118371,EXAC_EAS_AF,COL9A2
4260,1:40777139:T>G,NM_001852.3:c.519+33A>C,\N,\N,10/31,Unknown significance,\N,intron_variant,5.11,0.001,1KG_EUR_AF,COL9A2
4261,1:40777140:G>C,NM_001852.3:c.519+32C>G,\N,\N,10/31,Unknown significance,\N,intron_variant,2.843,0.00244243,EVS_EA_AF,COL9A2
4262,1:40777141:T>C,NM_001852.3:c.519+31A>G,\N,\N,10/31,Unknown significance,\N,intron_variant,1.667,\N,\N,COL9A2
4263,1:40777142:G>A,NM_001852.3:c.519+30C>T,\N,\N,10/31,Unknown significance,\N,intron_variant,3.893,0.0008,1KG_AFR_AF,COL9A2
4264,1:40777144:T>C,NM_001852.3:c.519+28A>G,\N,\N,10/31,Unknown significance,\N,intron_variant,2.631,0.0000876117,EXAC_AMR_AF,COL9A2
4265,1:40777148:C>T,NM_001852.3:c.519+24G>A,\N,\N,10/31,Unknown significance,\N,intron_variant,9.308,0.000015396,EXAC_NFE_AF,COL9A2
4266,1:40777151:G>A,NM_001852.3:c.519+21C>T,\N,\N,10/31,Unknown significance,\N,intron_variant,6.606,0.000304915,EXAC_SAS_AF,COL9A2
4267,1:40777157:G>T,NM_001852.3:c.519+15C>A,\N,\N,10/31,Unknown significance,\N,intron_variant,5.807,0.0000608791,EXAC_SAS_AF,COL9A2
4268,1:40777162:C>A,NM_001852.3:c.519+10G>T,\N,\N,10/31,Unknown significance,\N,intron_variant,8.786,0.000116822,EXAC_EAS_AF,COL9A2
4269,1:40777163:G>A,NM_001852.3:c.519+9C>T,\N,\N,10/31,Unknown significance,\N,intron_variant,8.055,0.000116279,EVS_EA_AF,COL9A2
4270,1:40777169:C>T,NM_001852.3:c.519+3G>A,\N,\N,10/31,Unknown significance,\N,splice_region_variant&intron_variant,13.57,0.0008,1KG_AFR_AF,COL9A2
4271,1:40777175:G>A,NM_001852.3:c.516C>T,NP_001843.1:p.Phe172=,10/32,\N,Unknown significance,\N,synonymous_variant,9.73,0.001,1KG_EAS_AF,COL9A2
4272,1:40777178:A>T,NM_001852.3:c.513T>A,NP_001843.1:p.Asp171Glu,10/32,\N,Unknown significance,\N,missense_variant,22.5,0.0000867152,EXAC_AMR_AF,COL9A2
4273,1:40777182:G>A,NM_001852.3:c.509C>T,NP_001843.1:p.Ala170Val,10/32,\N,Unknown significance,\N,missense_variant,32,0.000226963,EVS_AA_AF,COL9A2
4274,1:40777187:G>T,NM_001852.3:c.504C>A,NP_001843.1:p.Gly168=,10/32,\N,Unknown significance,\N,synonymous_variant,7.474,0.0000150716,EXAC_NFE_AF,COL9A2
4275,1:40777194:A>G,NM_001852.3:c.497T>C,NP_001843.1:p.Leu166Pro,10/32,\N,Unknown significance,\N,missense_variant,23.4,0.0000150539,EXAC_NFE_AF,COL9A2
4276,1:40777207:T>A,NM_001852.3:c.484A>T,NP_001843.1:p.Thr162Ser,10/32,\N,Unknown significance,\N,missense_variant,23,0.001,1KG_SAS_AF,COL9A2
4277,1:40777211:C>T,NM_001852.3:c.480G>A,NP_001843.1:p.Pro160=,10/32,\N,Unknown significance,\N,synonymous_variant,13.64,0.0000300661,EXAC_NFE_AF,COL9A2
4278,1:40777215:C>T,NM_001852.3:c.476G>A,NP_001843.1:p.Arg159His,10/32,\N,Unknown significance,\N,missense_variant,23.5,0.000226963,EVS_AA_AF,COL9A2
4279,1:40777216:G>C,NM_001852.3:c.475C>G,NP_001843.1:p.Arg159Gly,10/32,\N,Unknown significance,\N,missense_variant,22.8,0.0000150286,EXAC_NFE_AF,COL9A2
4280,1:40777222:G>C,NM_001852.3:c.472-3C>G,\N,\N,9/31,Unknown significance,\N,splice_region_variant&intron_variant,13.41,0.000060562,EXAC_SAS_AF,COL9A2
4281,1:40777226:G>A,NM_001852.3:c.472-7C>T,\N,\N,9/31,Unknown significance,\N,splice_region_variant&intron_variant,12.22,0.000060562,EXAC_SAS_AF,COL9A2
4282,1:40777227:G>A,NM_001852.3:c.472-8C>T,\N,\N,9/31,Unknown significance,\N,splice_region_variant&intron_variant,11.84,0.0000864006,EXAC_AMR_AF,COL9A2
4283,1:40777229:G>T,NM_001852.3:c.472-10C>A,\N,\N,9/31,Unknown significance,\N,intron_variant,11.55,0.000180213,EXAC_NFE_AF,COL9A2
4284,1:40777233:T>G,NM_001852.3:c.472-14A>C,\N,\N,9/31,Unknown significance,\N,intron_variant,5.201,0.0000150164,EXAC_NFE_AF,COL9A2
4285,1:40777234:G>A,NM_001852.3:c.472-15C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,3.26,0.0000450491,EXAC_NFE_AF,COL9A2
4286,1:40777240:G>A,NM_001852.3:c.472-21C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,4.069,0.000231481,EXAC_EAS_AF,COL9A2
4287,1:40777257:T>C,NM_001852.3:c.472-38A>G,\N,\N,9/31,Unknown significance,\N,intron_variant,1.64,0.000060562,EXAC_SAS_AF,COL9A2
4288,1:40777262:C>T,NM_001852.3:c.472-43G>A,\N,\N,9/31,Unknown significance,\N,intron_variant,7.721,0.000116279,EVS_EA_AF,COL9A2
4289,1:40777264:C>T,NM_001852.3:c.472-45G>A,\N,\N,9/31,Unknown significance,\N,intron_variant,4.995,0.000116279,EVS_EA_AF,COL9A2
4290,1:40777265:C>T,NM_001852.3:c.472-46G>A,\N,\N,9/31,Unknown significance,\N,intron_variant,4.642,0.000226963,EVS_AA_AF,COL9A2
4291,1:40777266:G>A,NM_001852.3:c.472-47C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,4.219,0.004,1KG_EAS_AF,COL9A2
4292,1:40777269:G>C,NM_001852.3:c.472-50C>G,\N,\N,9/31,Unknown significance,\N,intron_variant,1.34,0.000030003,EXAC_NFE_AF,COL9A2
4293,1:40777269:G>T,NM_001852.3:c.472-50C>A,\N,\N,9/31,Unknown significance,\N,intron_variant,2.445,0.0000962279,EXAC_AFR_AF,COL9A2
4294,1:40777270:G>A,NM_001852.3:c.472-51C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,1.658,0.0000150015,EXAC_NFE_AF,COL9A2
4295,1:40777271:C>A,NM_001852.3:c.472-52G>T,\N,\N,9/31,Unknown significance,\N,intron_variant,7.627,0.0000150011,EXAC_NFE_AF,COL9A2
4296,1:40777284:C>A,NM_001852.3:c.471+50G>T,\N,\N,9/31,Unknown significance,\N,intron_variant,2.587,0.000060562,EXAC_SAS_AF,COL9A2
4297,1:40777287:TCTC>T,NM_001852.3:c.471+44_471+46del,\N,\N,9/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4298,1:40777298:T>C,NM_001852.3:c.471+36A>G,\N,\N,9/31,Unknown significance,\N,intron_variant,2.304,0.0000150069,EXAC_NFE_AF,COL9A2
4299,1:40777308:C>T,NM_001852.3:c.471+26G>A,\N,\N,9/31,Unknown significance,\N,intron_variant,7.638,0.0000967305,EXAC_AFR_AF,COL9A2
4300,1:40777310:TGTCGGGG>T,NM_001852.3:c.471+17_471+23del,\N,\N,9/31,Unknown significance,\N,intron_variant,8.753,0.000172771,EXAC_AMR_AF,COL9A2
4301,1:40777313:C>T,NM_001852.3:c.471+21G>A,\N,\N,9/31,Unknown significance,\N,intron_variant,5.806,0.000060562,EXAC_SAS_AF,COL9A2
4302,1:40777314:G>A,NM_001852.3:c.471+20C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,4.885,0.000226963,EVS_AA_AF,COL9A2
4303,1:40777316:G>A,NM_001852.3:c.471+18C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,3.071,0.000193949,EXAC_AFR_AF,COL9A2
4304,1:40777318:G>C,NM_001852.3:c.471+16C>G,\N,\N,9/31,Unknown significance,\N,intron_variant,0.913,0.0000300779,EXAC_NFE_AF,COL9A2
4305,1:40777322:G>A,NM_001852.3:c.471+12C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,2.427,0.0000601793,EXAC_NFE_AF,COL9A2
4306,1:40777324:G>A,NM_001852.3:c.471+10C>T,\N,\N,9/31,Unknown significance,\N,intron_variant,5.635,0.000060562,EXAC_SAS_AF,COL9A2
4307,1:40777325:G>T,NM_001852.3:c.471+9C>A,\N,\N,9/31,Unknown significance,\N,intron_variant,5.367,0.0000451481,EXAC_NFE_AF,COL9A2
4308,1:40777335:G>T,NM_001852.3:c.470C>A,NP_001843.1:p.Pro157His,9/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.3,0.000172801,EXAC_AMR_AF,COL9A2
4309,1:40777345:G>A,NM_001852.3:c.460C>T,NP_001843.1:p.Pro154Ser,9/32,\N,Unknown significance,\N,missense_variant,17.08,0.000116306,EVS_EA_AF,COL9A2
4310,1:40777347:G>A,NM_001852.3:c.458C>T,NP_001843.1:p.Pro153Leu,9/32,\N,Likely benign,\N,missense_variant,11.41,0.003,1KG_AFR_AF,COL9A2
4311,1:40777350:C>T,NM_001852.3:c.455G>A,NP_001843.1:p.Gly152Glu,9/32,\N,Unknown significance,\N,missense_variant,21.8,0.00110619,EXAC_OTH_AF,COL9A2
4312,1:40777357:G>A,NM_001852.3:c.448C>T,NP_001843.1:p.Pro150Ser,9/32,\N,Unknown significance,\N,missense_variant,8.72,0.0000150825,EXAC_NFE_AF,COL9A2
4313,1:40777357:G>T,NM_001852.3:c.448C>A,NP_001843.1:p.Pro150Thr,9/32,\N,Unknown significance,\N,missense_variant,8,0.0000150825,EXAC_NFE_AF,COL9A2
4314,1:40777358:C>T,NM_001852.3:c.447G>A,NP_001843.1:p.Gly149=,9/32,\N,Unknown significance,\N,synonymous_variant,10.3,0.000101647,EXAC_AFR_AF,COL9A2
4315,1:40777361:C>T,NM_001852.3:c.444G>A,NP_001843.1:p.Ser148=,9/32,\N,Unknown significance,\N,synonymous_variant,12.33,0.0000864006,EXAC_AMR_AF,COL9A2
4316,1:40777362:G>A,NM_001852.3:c.443C>T,NP_001843.1:p.Ser148Leu,9/32,\N,Unknown significance,\N,missense_variant,20.6,0.0000603318,EXAC_NFE_AF,COL9A2
4317,1:40777364:T>C,NM_001852.3:c.441A>G,NP_001843.1:p.Pro147=,9/32,\N,Unknown significance,\N,synonymous_variant,0.364,0.0000150857,EXAC_NFE_AF,COL9A2
4318,1:40777365:G>T,NM_001852.3:c.440C>A,NP_001843.1:p.Pro147Gln,9/32,\N,Unknown significance,\N,missense_variant,13.29,0.0000301696,EXAC_NFE_AF,COL9A2
4319,1:40777377:C>T,NM_001852.3:c.428G>A,NP_001843.1:p.Gly143Glu,9/32,\N,Unknown significance,\N,missense_variant,25.1,0.000121153,EXAC_SAS_AF,COL9A2
4320,1:40777388:CT>C,NM_001852.3:c.418-2del,\N,\N,8/31,Unknown significance,\N,splice_acceptor_variant,25.2,\N,\N,COL9A2
4321,1:40777402:A>T,NM_001852.3:c.418-15T>A,\N,\N,8/31,Unknown significance,\N,intron_variant,3.533,0.000102229,EXAC_AFR_AF,COL9A2
4322,1:40777415:C>T,NM_001852.3:c.418-28G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,11.87,0.0000151144,EXAC_NFE_AF,COL9A2
4323,1:40777425:G>T,NM_001852.3:c.418-38C>A,\N,\N,8/31,Unknown significance,\N,intron_variant,10.56,0.000116659,EVS_EA_AF,COL9A2
4324,1:40777427:C>T,NM_001852.3:c.418-40G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,11.6,0.0000151286,EXAC_NFE_AF,COL9A2
4325,1:40777430:T>C,NM_001852.3:c.418-43A>G,\N,\N,8/31,Unknown significance,\N,intron_variant,9.734,0.0000151451,EXAC_NFE_AF,COL9A2
4326,1:40777432:C>A,NM_001852.3:c.418-45G>T,\N,\N,8/31,Unknown significance,\N,intron_variant,8.894,0.0000866251,EXAC_AMR_AF,COL9A2
4327,1:40777432:C>T,NM_001852.3:c.418-45G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,9.109,0.001,1KG_EAS_AF,COL9A2
4328,1:40777436:C>T,NM_001852.3:c.418-49G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,4.135,0.00222222,EXAC_OTH_AF,COL9A2
4329,1:40777453:C>T,NM_001852.3:c.418-66G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,5.881,\N,\N,COL9A2
4330,1:40777454:T>G,NM_001852.3:c.418-67A>C,\N,\N,8/31,Unknown significance,\N,intron_variant,6.492,\N,\N,COL9A2
4331,1:40777456:C>A,NM_001852.3:c.418-69G>T,\N,\N,8/31,Benign,\N,intron_variant,4.495,0.0804,1KG_EAS_AF,COL9A2
4332,1:40777482:C>T,NM_001852.3:c.418-95G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,8.234,0.0014,1KG_AMR_AF,COL9A2
4333,1:40777488:T>TC,NM_001852.3:c.418-102dup,\N,\N,8/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4334,1:40777491:C>T,NM_001852.3:c.418-104G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,9.109,\N,\N,COL9A2
4335,1:40777492:G>A,NM_001852.3:c.418-105C>T,\N,\N,8/31,Unknown significance,\N,intron_variant,7.058,0.001,1KG_EAS_AF,COL9A2
4336,1:40777494:T>G,NM_001852.3:c.418-107A>C,\N,\N,8/31,Benign,\N,intron_variant,7.379,0.0102,1KG_SAS_AF,COL9A2
4337,1:40777495:C>T,NM_001852.3:c.418-108G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,6.017,\N,\N,COL9A2
4338,1:40777497:C>G,NM_001852.3:c.418-110G>C,\N,\N,8/31,Unknown significance,\N,intron_variant,5.762,0.001,1KG_EUR_AF,COL9A2
4339,1:40777508:C>T,NM_001852.3:c.418-121G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,6.128,0.002,1KG_EAS_AF,COL9A2
4340,1:40777509:C>T,NM_001852.3:c.418-122G>A,\N,\N,8/31,Benign,\N,intron_variant,6.895,0.0212,1KG_AFR_AF,COL9A2
4341,1:40777522:G>A,NM_001852.3:c.418-135C>T,\N,\N,8/31,Unknown significance,\N,intron_variant,1.316,0.0015,1KG_AFR_AF,COL9A2
4342,1:40777555:C>T,NM_001852.3:c.418-168G>A,\N,\N,8/31,Benign,\N,intron_variant,4.8,0.0072,1KG_AMR_AF,COL9A2
4343,1:40777559:G>C,NM_001852.3:c.417+172C>G,\N,\N,8/31,Unknown significance,\N,intron_variant,0.068,\N,\N,COL9A2
4344,1:40777560:T>C,NM_001852.3:c.417+171A>G,\N,\N,8/31,Unknown significance,\N,intron_variant,4.517,0.0014,1KG_AMR_AF,COL9A2
4345,1:40777579:C>T,NM_001852.3:c.417+152G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,2.281,0.002,1KG_EUR_AF,COL9A2
4346,1:40777580:G>A,NM_001852.3:c.417+151C>T,\N,\N,8/31,Benign,\N,intron_variant,4.635,0.006,1KG_EUR_AF,COL9A2
4347,1:40777589:C>T,NM_001852.3:c.417+142G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,7.114,0.0038,1KG_AFR_AF,COL9A2
4348,1:40777643:G>A,NM_001852.3:c.417+88C>T,\N,\N,8/31,Unknown significance,\N,intron_variant,7.605,0.001,1KG_EAS_AF,COL9A2
4349,1:40777689:T>C,NM_001852.3:c.417+42A>G,\N,\N,8/31,Unknown significance,\N,intron_variant,1.57,\N,\N,COL9A2
4350,1:40777694:G>A,NM_001852.3:c.417+37C>T,\N,\N,8/31,Unknown significance,\N,intron_variant,6.191,0.0000261274,EXAC_NFE_AF,COL9A2
4351,1:40777703:C>T,NM_001852.3:c.417+28G>A,\N,\N,8/31,Unknown significance,\N,intron_variant,6.807,0.000153988,EXAC_AFR_AF,COL9A2
4352,1:40777706:T>A,NM_001852.3:c.417+25A>T,\N,\N,8/31,Unknown significance,\N,intron_variant,4.468,\N,\N,COL9A2
4353,1:40777709:A>G,NM_001852.3:c.417+22T>C,\N,\N,8/31,Benign,\N,intron_variant,5.153,0.0212,1KG_AFR_AF,COL9A2
4354,1:40777719:G>A,NM_001852.3:c.417+12C>T,\N,\N,8/31,Unknown significance,\N,intron_variant,1.426,0.000116333,EVS_EA_AF,COL9A2
4355,1:40777728:C>T,NM_001852.3:c.417+3G>A,\N,\N,8/31,Unknown significance,\N,splice_region_variant&intron_variant,15.35,0.000227066,EVS_AA_AF,COL9A2
4356,1:40777731:C>T,NM_001852.3:c.417G>A,NP_001843.1:p.Lys139=,8/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,21.1,0.0000242895,EXAC_NFE_AF,COL9A2
4357,1:40777732:T>C,NM_001852.3:c.416A>G,NP_001843.1:p.Lys139Arg,8/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,20.7,0.0000242049,EXAC_NFE_AF,COL9A2
4358,1:40777741:C>T,NM_001852.3:c.407G>A,NP_001843.1:p.Arg136Gln,8/32,\N,Likely benign,\N,missense_variant,22.8,0.0000712115,EXAC_NFE_AF,COL9A2
4359,1:40777745:T>C,NM_001852.3:c.403A>G,NP_001843.1:p.Ile135Val,8/32,\N,Likely benign,\N,missense_variant,11.04,0.000143802,EXAC_AFR_AF,COL9A2
4360,1:40777750:A>G,NM_001852.3:c.398T>C,NP_001843.1:p.Ile133Thr,8/32,\N,Unknown significance,\N,missense_variant,21.3,0.001,1KG_SAS_AF,COL9A2
4361,1:40777758:A>G,NM_001852.3:c.390T>C,NP_001843.1:p.Pro130=,8/32,\N,Unknown significance,\N,synonymous_variant,6.33,\N,\N,COL9A2
4362,1:40777768:A>G,NM_001852.3:c.380T>C,NP_001843.1:p.Val127Ala,8/32,\N,Likely benign,\N,missense_variant,13.99,0.0008,1KG_AFR_AF,COL9A2
4363,1:40777772:G>T,NM_001852.3:c.376C>A,NP_001843.1:p.Pro126Thr,8/32,\N,Benign,\N,missense_variant,14.86,0.0053,1KG_AFR_AF,COL9A2
4364,1:40777774:C>G,NM_001852.3:c.374G>C,NP_001843.1:p.Gly125Ala,8/32,\N,Unknown significance,\N,missense_variant,23.7,0.0000923532,EXAC_SAS_AF,COL9A2
4365,1:40777781:G>A,NM_001852.3:c.367C>T,NP_001843.1:p.Pro123Ser,8/32,\N,Unknown significance,\N,missense_variant,11.73,0.000227066,EVS_AA_AF,COL9A2
4366,1:40777792:G>A,NM_001852.3:c.364-8C>T,\N,\N,7/31,Benign,\N,splice_region_variant&intron_variant,2.632,0.159091,EXAC_AMR_AF,COL9A2
4367,1:40777793:CAG>C,NM_001852.3:c.364-11_364-10del,\N,\N,7/31,Unknown significance,\N,intron_variant,10.43,0.0000459686,EXAC_NFE_AF,COL9A2
4368,1:40777797:G>A,NM_001852.3:c.364-13C>T,\N,\N,7/31,Unknown significance,\N,intron_variant,7.938,0.00346837,EXAC_AFR_AF,COL9A2
4369,1:40777799:G>A,NM_001852.3:c.364-15C>T,\N,\N,7/31,Unknown significance,\N,intron_variant,3.823,0.0000229737,EXAC_NFE_AF,COL9A2
4370,1:40777800:T>C,NM_001852.3:c.364-16A>G,\N,\N,7/31,Unknown significance,\N,intron_variant,0.638,0.00113607,EXAC_NFE_AF,COL9A2
4371,1:40777800:T>G,NM_001852.3:c.364-16A>C,\N,\N,7/31,Benign,\N,intron_variant,1.574,0.704681,EXAC_EAS_AF,COL9A2
4372,1:40777804:T>C,NM_001852.3:c.364-20A>G,\N,\N,7/31,Benign,\N,intron_variant,0.574,0.207366,EXAC_AFR_AF,COL9A2
4373,1:40777806:G>A,NM_001852.3:c.364-22C>T,\N,\N,7/31,Unknown significance,\N,intron_variant,3.192,0.0000464922,EXAC_NFE_AF,COL9A2
4374,1:40777821:A>G,NM_001852.3:c.364-37T>C,\N,\N,7/31,Unknown significance,\N,intron_variant,10.09,0.0000932662,EXAC_SAS_AF,COL9A2
4375,1:40777832:C>A,NM_001852.3:c.364-48G>T,\N,\N,7/31,Unknown significance,\N,intron_variant,10.89,\N,\N,COL9A2
4376,1:40777833:C>CT,NM_001852.3:c.364-50_364-49insA,\N,\N,7/31,Unknown significance,\N,intron_variant,12.17,0.0000261138,EXAC_NFE_AF,COL9A2
4377,1:40777834:C>A,NM_001852.3:c.364-50G>T,\N,\N,7/31,Unknown significance,\N,intron_variant,11.28,0.001,1KG_SAS_AF,COL9A2
4378,1:40777835:TG>T,NM_001852.3:c.364-52del,\N,\N,7/31,Unknown significance,\N,intron_variant,12.27,\N,\N,COL9A2
4379,1:40777836:G>A,NM_001852.3:c.364-52C>T,\N,\N,7/31,Unknown significance,\N,intron_variant,12.3,0.00028566,EXAC_SAS_AF,COL9A2
4380,1:40777836:G>C,NM_001852.3:c.364-52C>G,\N,\N,7/31,Unknown significance,\N,intron_variant,10.68,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
4381,1:40777842:A>G,NM_001852.3:c.364-58T>C,\N,\N,7/31,Benign,\N,intron_variant,9.463,0.7044,1KG_EAS_AF,COL9A2
4382,1:40777851:G>A,NM_001852.3:c.364-67C>T,\N,\N,7/31,Benign,\N,intron_variant,13.07,0.0212,1KG_AFR_AF,COL9A2
4383,1:40777859:C>T,NM_001852.3:c.364-75G>A,\N,\N,7/31,Benign,\N,intron_variant,2.957,0.0204,1KG_AFR_AF,COL9A2
4384,1:40777867:C>T,NM_001852.3:c.364-83G>A,\N,\N,7/31,Unknown significance,\N,intron_variant,5.6,0.001,1KG_SAS_AF,COL9A2
4385,1:40777868:C>T,NM_001852.3:c.364-84G>A,\N,\N,7/31,Unknown significance,\N,intron_variant,2.953,0.001,1KG_EAS_AF,COL9A2
4386,1:40777883:A>T,NM_001852.3:c.364-99T>A,\N,\N,7/31,Unknown significance,\N,intron_variant,2.436,\N,\N,COL9A2
4387,1:40777884:C>CT,NM_001852.3:c.364-101dup,\N,\N,7/31,Benign,\N,intron_variant,6.238,0.3835,1KG_AFR_AF,COL9A2
4388,1:40777884:C>CTT,NM_001852.3:c.364-102_364-101dup,\N,\N,7/31,Unknown significance,\N,intron_variant,6.09,\N,\N,COL9A2
4389,1:40777886:T>A,NM_001852.3:c.364-102A>T,\N,\N,7/31,Unknown significance,\N,intron_variant,4.978,\N,\N,COL9A2
4390,1:40777900:G>T,NM_001852.3:c.364-116C>A,\N,\N,7/31,Unknown significance,\N,intron_variant,0.313,\N,\N,COL9A2
4391,1:40777906:C>G,NM_001852.3:c.364-122G>C,\N,\N,7/31,Unknown significance,\N,intron_variant,3.518,\N,\N,COL9A2
4392,1:40777920:C>G,NM_001852.3:c.364-136G>C,\N,\N,7/31,Benign,\N,intron_variant,7.508,0.0212,1KG_AFR_AF,COL9A2
4393,1:40777929:G>A,NM_001852.3:c.364-145C>T,\N,\N,7/31,Unknown significance,\N,intron_variant,3.086,0.001,1KG_EAS_AF,COL9A2
4394,1:40777930:C>A,NM_001852.3:c.364-146G>T,\N,\N,7/31,Unknown significance,\N,intron_variant,5.034,0.001,1KG_EAS_AF,COL9A2
4395,1:40777966:G>C,NM_001852.3:c.363+162C>G,\N,\N,7/31,Unknown significance,\N,intron_variant,0.534,0.002,1KG_EUR_AF,COL9A2
4396,1:40777998:G>T,NM_001852.3:c.363+130C>A,\N,\N,7/31,Unknown significance,\N,intron_variant,4.509,0.001,1KG_SAS_AF,COL9A2
4397,1:40778048:G>A,NM_001852.3:c.363+80C>T,\N,\N,7/31,Unknown significance,\N,intron_variant,4.021,0.001,1KG_SAS_AF,COL9A2
4398,1:40778059:C>T,NM_001852.3:c.363+69G>A,\N,\N,7/31,Unknown significance,\N,intron_variant,0.687,0.000314268,EVS_EA_AF,COL9A2
4399,1:40778064:C>A,NM_001852.3:c.363+64G>T,\N,\N,7/31,Unknown significance,\N,intron_variant,7.724,0.0041,1KG_SAS_AF,COL9A2
4400,1:40778078:C>A,NM_001852.3:c.363+50G>T,\N,\N,7/31,Unknown significance,\N,intron_variant,7.88,0.001,1KG_SAS_AF,COL9A2
4401,1:40778088:T>C,NM_001852.3:c.363+40A>G,\N,\N,7/31,Unknown significance,\N,intron_variant,2.931,0.000017507,EXAC_NFE_AF,COL9A2
4402,1:40778098:G>A,NM_001852.3:c.363+30C>T,\N,\N,7/31,Unknown significance,\N,intron_variant,2.799,0.0000347066,EXAC_NFE_AF,COL9A2
4403,1:40778103:TC>T,NM_001852.3:c.363+24del,\N,\N,7/31,Unknown significance,\N,intron_variant,6.533,0.0000171857,EXAC_NFE_AF,COL9A2
4404,1:40778108:C>T,NM_001852.3:c.363+20G>A,\N,\N,7/31,Benign,\N,intron_variant,6.684,0.0177855,EXAC_SAS_AF,COL9A2
4405,1:40778115:C>T,NM_001852.3:c.363+13G>A,\N,\N,7/31,Unknown significance,\N,intron_variant,11.81,0.0000936856,EXAC_AMR_AF,COL9A2
4406,1:40778130:G>T,NM_001852.3:c.361C>A,NP_001843.1:p.Pro121Thr,7/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,15.53,0.000130056,EXAC_SAS_AF,COL9A2
4407,1:40778138:G>C,NM_001852.3:c.353C>G,NP_001843.1:p.Ala118Gly,7/32,\N,Unknown significance,\N,missense_variant,22.9,0.0000913242,EXAC_AMR_AF,COL9A2
4408,1:40778139:C>G,NM_001852.3:c.352G>C,NP_001843.1:p.Ala118Pro,7/32,\N,Unknown significance,\N,missense_variant,14.76,0.0000161337,EXAC_NFE_AF,COL9A2
4409,1:40778148:G>C,NM_001852.3:c.343C>G,NP_001843.1:p.Pro115Ala,7/32,\N,Unknown significance,\N,missense_variant,11.69,0.00017094,EXAC_FIN_AF,COL9A2
4410,1:40778149:G>A,NM_001852.3:c.342C>T,NP_001843.1:p.Gly114=,7/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,16.58,0.0000642343,EXAC_SAS_AF,COL9A2
4411,1:40778158:C>T,NM_001852.3:c.340-7G>A,\N,\N,6/31,Unknown significance,\N,splice_region_variant&intron_variant,17.27,0.000226963,EVS_AA_AF,COL9A2
4412,1:40778168:G>C,NM_001852.3:c.340-17C>G,\N,\N,6/31,Unknown significance,\N,intron_variant,14.11,\N,\N,COL9A2
4413,1:40778173:T>C,NM_001852.3:c.340-22A>G,\N,\N,6/31,Unknown significance,\N,intron_variant,14.05,0.0000942803,EXAC_NFE_AF,COL9A2
4414,1:40778182:T>A,NM_001852.3:c.340-31A>T,\N,\N,6/31,Unknown significance,\N,intron_variant,10.49,0.0000632992,EXAC_SAS_AF,COL9A2
4415,1:40778182:T>C,NM_001852.3:c.340-31A>G,\N,\N,6/31,Unknown significance,\N,intron_variant,7.857,0.000179727,EXAC_AMR_AF,COL9A2
4416,1:40778185:C>T,NM_001852.3:c.340-34G>A,\N,\N,6/31,Unknown significance,\N,intron_variant,7.139,0.000102754,EXAC_AFR_AF,COL9A2
4417,1:40778187:C>T,NM_001852.3:c.340-36G>A,\N,\N,6/31,Unknown significance,\N,intron_variant,8.348,0.000348837,EVS_EA_AF,COL9A2
4418,1:40778193:G>A,NM_001852.3:c.340-42C>T,\N,\N,6/31,Unknown significance,\N,intron_variant,1.202,0.0000894775,EXAC_AMR_AF,COL9A2
4419,1:40778196:G>C,NM_001852.3:c.340-45C>G,\N,\N,6/31,Unknown significance,\N,intron_variant,4.592,0.0000628457,EXAC_SAS_AF,COL9A2
4420,1:40778210:C>G,NM_001852.3:c.339+36G>C,\N,\N,6/31,Unknown significance,\N,intron_variant,2.227,0.0008,1KG_AFR_AF,COL9A2
4421,1:40778212:A>G,NM_001852.3:c.339+34T>C,\N,\N,6/31,Unknown significance,\N,intron_variant,4.651,0.0000622045,EXAC_SAS_AF,COL9A2
4422,1:40778218:C>T,NM_001852.3:c.339+28G>A,\N,\N,6/31,Unknown significance,\N,intron_variant,7.765,0.000116279,EVS_EA_AF,COL9A2
4423,1:40778221:C>T,NM_001852.3:c.339+25G>A,\N,\N,6/31,Unknown significance,\N,intron_variant,7.456,0.0016117,EXAC_SAS_AF,COL9A2
4424,1:40778222:G>A,NM_001852.3:c.339+24C>T,\N,\N,6/31,Unknown significance,\N,intron_variant,4.357,0.000531444,EXAC_AMR_AF,COL9A2
4425,1:40778225:G>A,NM_001852.3:c.339+21C>T,\N,\N,6/31,Unknown significance,\N,intron_variant,9.566,0.0000459897,EXAC_NFE_AF,COL9A2
4426,1:40778227:C>T,NM_001852.3:c.339+19G>A,\N,\N,6/31,Unknown significance,\N,intron_variant,10.14,0.001,1KG_SAS_AF,COL9A2
4427,1:40778228:C>T,NM_001852.3:c.339+18G>A,\N,\N,6/31,Unknown significance,\N,intron_variant,10.73,0.0000153177,EXAC_NFE_AF,COL9A2
4428,1:40778230:T>A,NM_001852.3:c.339+16A>T,\N,\N,6/31,Unknown significance,\N,intron_variant,11.28,0.000100786,EXAC_AFR_AF,COL9A2
4429,1:40778238:G>A,NM_001852.3:c.339+8C>T,\N,\N,6/31,Unknown significance,\N,splice_region_variant&intron_variant,6.603,0.0000616447,EXAC_SAS_AF,COL9A2
4430,1:40778239:T>A,NM_001852.3:c.339+7A>T,\N,\N,6/31,Unknown significance,\N,splice_region_variant&intron_variant,14,0.0000152872,EXAC_NFE_AF,COL9A2
4431,1:40778244:A>G,NM_001852.3:c.339+2T>C,\N,\N,6/31,Unknown significance,\N,splice_donor_variant,24.7,0.0000152919,EXAC_NFE_AF,COL9A2
4432,1:40778246:C>T,NM_001852.3:c.339G>A,NP_001843.1:p.Pro113=,6/32,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.67,0.0015,1KG_AFR_AF,COL9A2
4433,1:40778247:G>A,NM_001852.3:c.338C>T,NP_001843.1:p.Pro113Leu,6/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.8,0.0000459193,EXAC_NFE_AF,COL9A2
4434,1:40778249:A>T,NM_001852.3:c.336T>A,NP_001843.1:p.Leu112=,6/32,\N,Unknown significance,\N,synonymous_variant,5.834,0.0000152933,EXAC_NFE_AF,COL9A2
4435,1:40778250:A>C,NM_001852.3:c.335T>G,NP_001843.1:p.Leu112Arg,6/32,\N,Unknown significance,\N,missense_variant,22.3,0.00113482,EVS_AA_AF,COL9A2
4436,1:40778252:G>C,NM_001852.3:c.333C>G,NP_001843.1:p.Gly111=,6/32,\N,Unknown significance,\N,synonymous_variant,8.61,\N,\N,COL9A2
4437,1:40778255:A>G,NM_001852.3:c.330T>C,NP_001843.1:p.Pro110=,6/32,\N,Unknown significance,\N,synonymous_variant,7.633,0.001,1KG_SAS_AF,COL9A2
4438,1:40778259:G>A,NM_001852.3:c.326C>T,NP_001843.1:p.Pro109Leu,6/32,\N,Unknown significance,\N,missense_variant,23.1,0.0000307106,EXAC_NFE_AF,COL9A2
4439,1:40778271:C>T,NM_001852.3:c.314G>A,NP_001843.1:p.Gly105Glu,6/32,\N,Unknown significance,\N,missense_variant,25.1,0.000117952,EXAC_EAS_AF,COL9A2
4440,1:40778272:C>T,NM_001852.3:c.313G>A,NP_001843.1:p.Gly105Arg,6/32,\N,Unknown significance,\N,missense_variant,26.3,0.000102838,EXAC_AFR_AF,COL9A2
4441,1:40778273:G>A,NM_001852.3:c.312C>T,NP_001843.1:p.Pro104=,6/32,\N,Benign,\N,synonymous_variant,13.45,0.0080148,EXAC_AFR_AF,COL9A2
4442,1:40778281:C>T,NM_001852.3:c.304G>A,NP_001843.1:p.Gly102Ser,6/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.9,0.0000630915,EXAC_SAS_AF,COL9A2
4443,1:40778282:C>T,NM_001852.3:c.304-1G>A,\N,\N,5/31,Unknown significance,\N,splice_acceptor_variant,24.7,0.0000157099,EXAC_NFE_AF,COL9A2
4444,1:40778285:C>A,NM_001852.3:c.304-4G>T,\N,\N,5/31,Unknown significance,\N,splice_region_variant&intron_variant,7.263,0.0000633794,EXAC_SAS_AF,COL9A2
4445,1:40778286:A>G,NM_001852.3:c.304-5T>C,\N,\N,5/31,Unknown significance,\N,splice_region_variant&intron_variant,3.466,0.0000637186,EXAC_SAS_AF,COL9A2
4446,1:40778289:A>T,NM_001852.3:c.304-8T>A,\N,\N,5/31,Unknown significance,\N,splice_region_variant&intron_variant,1.968,0.0000319193,EXAC_NFE_AF,COL9A2
4447,1:40778292:A>T,NM_001852.3:c.304-11T>A,\N,\N,5/31,Unknown significance,\N,intron_variant,3.501,0.0000160431,EXAC_NFE_AF,COL9A2
4448,1:40778294:C>G,NM_001852.3:c.304-13G>C,\N,\N,5/31,Unknown significance,\N,intron_variant,5.679,0.000016141,EXAC_NFE_AF,COL9A2
4449,1:40778294:C>T,NM_001852.3:c.304-13G>A,\N,\N,5/31,Benign,\N,intron_variant,7.587,0.00851996,EXAC_EAS_AF,COL9A2
4450,1:40778295:G>A,NM_001852.3:c.304-14C>T,\N,\N,5/31,Unknown significance,\N,intron_variant,5.213,0.0015,1KG_AFR_AF,COL9A2
4451,1:40778302:G>A,NM_001852.3:c.304-21C>T,\N,\N,5/31,Unknown significance,\N,intron_variant,4.036,0.0000165082,EXAC_NFE_AF,COL9A2
4452,1:40778302:G>T,NM_001852.3:c.304-21C>A,\N,\N,5/31,Unknown significance,\N,intron_variant,1.255,\N,\N,COL9A2
4453,1:40778310:G>A,NM_001852.3:c.304-29C>T,\N,\N,5/31,Unknown significance,\N,intron_variant,3.539,0.000130804,EXAC_SAS_AF,COL9A2
4454,1:40778310:G>C,NM_001852.3:c.304-29C>G,\N,\N,5/31,Unknown significance,\N,intron_variant,0.658,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
4455,1:40778317:T>G,NM_001852.3:c.304-36A>C,\N,\N,5/31,Unknown significance,\N,intron_variant,4.745,\N,\N,COL9A2
4456,1:40778322:C>G,NM_001852.3:c.304-41G>C,\N,\N,5/31,Unknown significance,\N,intron_variant,3.071,0.0000675219,EXAC_SAS_AF,COL9A2
4457,1:40778323:C>G,NM_001852.3:c.304-42G>C,\N,\N,5/31,Unknown significance,\N,intron_variant,0.603,0.0000676682,EXAC_SAS_AF,COL9A2
4458,1:40778323:C>T,NM_001852.3:c.304-42G>A,\N,\N,5/31,Unknown significance,\N,intron_variant,1.517,0.000265604,EXAC_EAS_AF,COL9A2
4459,1:40778324:G>A,NM_001852.3:c.304-43C>T,\N,\N,5/31,Unknown significance,\N,intron_variant,4.715,0.0018454,EXAC_AMR_AF,COL9A2
4460,1:40778357:C>G,NM_001852.3:c.303+46G>C,\N,\N,5/31,Unknown significance,\N,intron_variant,2.854,0.002079,EXAC_AFR_AF,COL9A2
4461,1:40778357:C>T,NM_001852.3:c.303+46G>A,\N,\N,5/31,Unknown significance,\N,intron_variant,4.843,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL9A2
4462,1:40778358:G>A,NM_001852.3:c.303+45C>T,\N,\N,5/31,Unknown significance,\N,intron_variant,3.708,0.0000431072,EXAC_NFE_AF,COL9A2
4463,1:40778363:C>T,NM_001852.3:c.303+40G>A,\N,\N,5/31,Unknown significance,\N,intron_variant,6.909,\N,\N,COL9A2
4464,1:40778367:A>G,NM_001852.3:c.303+36T>C,\N,\N,5/31,Unknown significance,\N,intron_variant,2.086,0.00010227,EXAC_SAS_AF,COL9A2
4465,1:40778377:C>G,NM_001852.3:c.303+26G>C,\N,\N,5/31,Benign,\N,intron_variant,5.916,0.0164939,EXAC_AMR_AF,COL9A2
4466,1:40778377:C>T,NM_001852.3:c.303+26G>A,\N,\N,5/31,Benign,\N,intron_variant,7.821,0.709941,EXAC_EAS_AF,COL9A2
4467,1:40778385:C>G,NM_001852.3:c.303+18G>C,\N,\N,5/31,Unknown significance,\N,intron_variant,6.938,0.0000865651,EXAC_NFE_AF,COL9A2
4468,1:40778401:A>G,NM_001852.3:c.303+2T>C,\N,\N,5/31,Unknown significance,\N,splice_donor_variant,17.3,\N,\N,COL9A2
4469,1:40778402:C>A,NM_001852.3:c.303+1G>T,\N,\N,5/31,Unknown significance,\N,splice_donor_variant,23.6,\N,\N,COL9A2
4470,1:40778407:A>T,NM_001852.3:c.299T>A,NP_001843.1:p.Val100Asp,5/32,\N,Likely benign,\N,missense_variant,3.953,0.000102041,EXAC_NFE_AF,COL9A2
4471,1:40778415:G>T,NM_001852.3:c.291C>A,NP_001843.1:p.Ile97=,5/32,\N,Unknown significance,\N,synonymous_variant,3.757,0.00010582,EXAC_NFE_AF,COL9A2
4472,1:40778463:A>G,NM_001852.3:c.250-7T>C,\N,\N,4/31,Benign,\N,splice_region_variant&intron_variant,2.518,0.0083,1KG_AFR_AF,COL9A2
4473,1:40778474:T>C,NM_001852.3:c.250-18A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,2.263,0.000252781,EXAC_SAS_AF,COL9A2
4474,1:40778479:G>C,NM_001852.3:c.250-23C>G,\N,\N,4/31,Unknown significance,\N,intron_variant,2.38,0.0008,1KG_AFR_AF,COL9A2
4475,1:40778482:C>T,NM_001852.3:c.250-26G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,6.279,0.000117343,EXAC_NFE_AF,COL9A2
4476,1:40778505:G>A,NM_001852.3:c.250-49C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,6.725,0.000118596,EXAC_NFE_AF,COL9A2
4477,1:40778507:C>T,NM_001852.3:c.250-51G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,6.649,\N,\N,COL9A2
4478,1:40778515:G>A,NM_001852.3:c.250-59C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,2.455,0.000314268,EVS_EA_AF,COL9A2
4479,1:40778567:C>T,NM_001852.3:c.250-111G>A,\N,\N,4/31,Benign,\N,intron_variant,2.102,0.2398,1KG_AFR_AF,COL9A2
4480,1:40778611:C>T,NM_001852.3:c.250-155G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,13.91,0.001,1KG_EAS_AF,COL9A2
4481,1:40778691:T>C,NM_001852.3:c.250-235A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,1.445,0.001,1KG_SAS_AF,COL9A2
4482,1:40778713:C>T,NM_001852.3:c.250-257G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,6.773,0.001,1KG_SAS_AF,COL9A2
4483,1:40778720:C>A,NM_001852.3:c.250-264G>T,\N,\N,4/31,Unknown significance,\N,intron_variant,5.029,0.0008,1KG_AFR_AF,COL9A2
4484,1:40778725:G>A,NM_001852.3:c.250-269C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,2.7,0.0023,1KG_AFR_AF,COL9A2
4485,1:40778754:G>C,NM_001852.3:c.250-298C>G,\N,\N,4/31,Unknown significance,\N,intron_variant,0.629,0.0008,1KG_AFR_AF,COL9A2
4486,1:40778783:C>T,NM_001852.3:c.250-327G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,1.508,\N,\N,COL9A2
4487,1:40778792:C>T,NM_001852.3:c.250-336G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,3.917,\N,\N,COL9A2
4488,1:40778839:CTTTCTTTTTT>C,NM_001852.3:c.250-393_250-384del,\N,\N,4/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4489,1:40778843:C>CT,NM_001852.3:c.250-388dup,\N,\N,4/31,Benign,\N,intron_variant,4.404,0.4196,1KG_EAS_AF,COL9A2
4490,1:40778843:C>T,NM_001852.3:c.250-387G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,0.589,\N,\N,COL9A2
4491,1:40778849:T>C,NM_001852.3:c.250-393A>G,\N,\N,4/31,Benign,\N,intron_variant,0.426,0.1974,1KG_AFR_AF,COL9A2
4492,1:40778853:TC>T,NM_001852.3:c.250-398del,\N,\N,4/31,Unknown significance,\N,intron_variant,0.143,\N,\N,COL9A2
4493,1:40778854:C>T,NM_001852.3:c.250-398G>A,\N,\N,4/31,Benign,\N,intron_variant,0.431,0.2405,1KG_AFR_AF,COL9A2
4494,1:40778900:G>A,NM_001852.3:c.250-444C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,1.68,0.001,1KG_EAS_AF,COL9A2
4495,1:40778926:C>T,NM_001852.3:c.250-470G>A,\N,\N,4/31,Benign,\N,intron_variant,5.769,0.0099,1KG_EUR_AF,COL9A2
4496,1:40778927:G>A,NM_001852.3:c.250-471C>T,\N,\N,4/31,Benign,\N,intron_variant,1.18,0.0099,1KG_EAS_AF,COL9A2
4497,1:40778931:C>T,NM_001852.3:c.250-475G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,3.453,0.001,1KG_EAS_AF,COL9A2
4498,1:40778943:T>C,NM_001852.3:c.250-487A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,0.386,\N,\N,COL9A2
4499,1:40778954:C>A,NM_001852.3:c.250-498G>T,\N,\N,4/31,Unknown significance,\N,intron_variant,4.255,\N,\N,COL9A2
4500,1:40778955:C>T,NM_001852.3:c.250-499G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,5.304,0.0008,1KG_AFR_AF,COL9A2
4501,1:40778968:G>C,NM_001852.3:c.250-512C>G,\N,\N,4/31,Unknown significance,\N,intron_variant,0.576,0.001,1KG_EAS_AF,COL9A2
4502,1:40779021:A>G,NM_001852.3:c.250-565T>C,\N,\N,4/31,Unknown significance,\N,intron_variant,0.9,\N,\N,COL9A2
4503,1:40779037:C>T,NM_001852.3:c.250-581G>A,\N,\N,4/31,Benign,\N,intron_variant,0.368,0.025,1KG_AFR_AF,COL9A2
4504,1:40779044:T>C,NM_001852.3:c.250-588A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,0.586,\N,\N,COL9A2
4505,1:40779068:T>C,NM_001852.3:c.250-612A>G,\N,\N,4/31,Benign,\N,intron_variant,0.59,0.5119,1KG_EAS_AF,COL9A2
4506,1:40779093:G>A,NM_001852.3:c.250-637C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,1.988,\N,\N,COL9A2
4507,1:40779115:A>G,NM_001852.3:c.250-659T>C,\N,\N,4/31,Unknown significance,\N,intron_variant,3.84,0.0008,1KG_AFR_AF,COL9A2
4508,1:40779132:C>T,NM_001852.3:c.250-676G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,0.3,\N,\N,COL9A2
4509,1:40779133:G>A,NM_001852.3:c.250-677C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,0.678,\N,\N,COL9A2
4510,1:40779208:G>A,NM_001852.3:c.249+669C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,2.986,0.001,1KG_EUR_AF,COL9A2
4511,1:40779214:T>C,NM_001852.3:c.249+663A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,0.425,0.0008,1KG_AFR_AF,COL9A2
4512,1:40779235:A>T,NM_001852.3:c.249+642T>A,\N,\N,4/31,Unknown significance,\N,intron_variant,1.339,\N,\N,COL9A2
4513,1:40779237:C>T,NM_001852.3:c.249+640G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,4.931,0.0008,1KG_AFR_AF,COL9A2
4514,1:40779238:G>A,NM_001852.3:c.249+639C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,1.382,\N,\N,COL9A2
4515,1:40779269:C>T,NM_001852.3:c.249+608G>A,\N,\N,4/31,Benign,\N,intron_variant,4.669,0.0072,1KG_AMR_AF,COL9A2
4516,1:40779279:T>C,NM_001852.3:c.249+598A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,1.33,0.001,1KG_EUR_AF,COL9A2
4517,1:40779280:C>T,NM_001852.3:c.249+597G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,4.221,0.001,1KG_EUR_AF|1KG_SAS_AF,COL9A2
4518,1:40779284:G>A,NM_001852.3:c.249+593C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,2.301,0.001,1KG_EAS_AF,COL9A2
4519,1:40779294:C>T,NM_001852.3:c.249+583G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,4.707,0.0014,1KG_AMR_AF,COL9A2
4520,1:40779368:G>A,NM_001852.3:c.249+509C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,3.335,\N,\N,COL9A2
4521,1:40779444:C>T,NM_001852.3:c.249+433G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,5.71,\N,\N,COL9A2
4522,1:40779490:A>T,NM_001852.3:c.249+387T>A,\N,\N,4/31,Unknown significance,\N,intron_variant,0.308,\N,\N,COL9A2
4523,1:40779495:T>C,NM_001852.3:c.249+382A>G,\N,\N,4/31,Benign,\N,intron_variant,1.754,0.0068,1KG_AFR_AF,COL9A2
4524,1:40779499:G>A,NM_001852.3:c.249+378C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,0.751,0.001,1KG_EAS_AF,COL9A2
4525,1:40779525:C>G,NM_001852.3:c.249+352G>C,\N,\N,4/31,Benign,\N,intron_variant,1.311,0.0377,1KG_EAS_AF,COL9A2
4526,1:40779585:G>A,NM_001852.3:c.249+292C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,12.43,\N,\N,COL9A2
4527,1:40779623:G>A,NM_001852.3:c.249+254C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,1.778,0.004,1KG_EUR_AF,COL9A2
4528,1:40779624:G>A,NM_001852.3:c.249+253C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,0.975,\N,\N,COL9A2
4529,1:40779637:C>T,NM_001852.3:c.249+240G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,2.671,\N,\N,COL9A2
4530,1:40779659:C>A,NM_001852.3:c.249+218G>T,\N,\N,4/31,Unknown significance,\N,intron_variant,3.012,0.002,1KG_EAS_AF,COL9A2
4531,1:40779668:T>C,NM_001852.3:c.249+209A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,1.931,0.0008,1KG_AFR_AF,COL9A2
4532,1:40779676:G>A,NM_001852.3:c.249+201C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,4.694,\N,\N,COL9A2
4533,1:40779684:G>T,NM_001852.3:c.249+193C>A,\N,\N,4/31,Benign,\N,intron_variant,0.396,0.0287,1KG_AFR_AF,COL9A2
4534,1:40779696:C>T,NM_001852.3:c.249+181G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,4.464,\N,\N,COL9A2
4535,1:40779706:G>C,NM_001852.3:c.249+171C>G,\N,\N,4/31,Unknown significance,\N,intron_variant,0.17,\N,\N,COL9A2
4536,1:40779826:AG>A,NM_001852.3:c.249+50del,\N,\N,4/31,Unknown significance,\N,intron_variant,2.167,0.0000299814,EXAC_NFE_AF,COL9A2
4537,1:40779827:G>A,NM_001852.3:c.249+50C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,4.049,0.0000149916,EXAC_NFE_AF,COL9A2
4538,1:40779841:G>T,NM_001852.3:c.249+36C>A,\N,\N,4/31,Benign,\N,intron_variant,1.91,0.2194,1KG_AFR_AF,COL9A2
4539,1:40779845:T>C,NM_001852.3:c.249+32A>G,\N,\N,4/31,Unknown significance,\N,intron_variant,1.182,0.00011558,EXAC_EAS_AF,COL9A2
4540,1:40779854:C>T,NM_001852.3:c.249+23G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,5.658,0.0000299751,EXAC_NFE_AF,COL9A2
4541,1:40779857:C>G,NM_001852.3:c.249+20G>C,\N,\N,4/31,Unknown significance,\N,intron_variant,2.341,0.000192308,EXAC_AFR_AF,COL9A2
4542,1:40779858:C>T,NM_001852.3:c.249+19G>A,\N,\N,4/31,Benign,\N,intron_variant,7.108,0.0117892,EXAC_EAS_AF,COL9A2
4543,1:40779859:C>G,NM_001852.3:c.249+18G>C,\N,\N,4/31,Unknown significance,\N,intron_variant,5.9,0.000060562,EXAC_SAS_AF,COL9A2
4544,1:40779859:C>T,NM_001852.3:c.249+18G>A,\N,\N,4/31,Unknown significance,\N,intron_variant,8.028,0.0014,1KG_AMR_AF,COL9A2
4545,1:40779860:G>A,NM_001852.3:c.249+17C>T,\N,\N,4/31,Unknown significance,\N,intron_variant,3.657,0.000014988,EXAC_NFE_AF,COL9A2
4546,1:40779874:C>T,NM_001852.3:c.249+3G>A,\N,\N,4/31,Unknown significance,\N,splice_region_variant&intron_variant,17.77,0.000060562,EXAC_SAS_AF,COL9A2
4547,1:40779885:C>T,NM_001852.3:c.241G>A,NP_001843.1:p.Gly81Arg,4/32,\N,Unknown significance,\N,missense_variant,25.7,0.0000961354,EXAC_AFR_AF,COL9A2
4548,1:40779886:G>A,NM_001852.3:c.240C>T,NP_001843.1:p.Pro80=,4/32,\N,Unknown significance,\N,synonymous_variant,9.85,0.000116279,EVS_EA_AF,COL9A2
4549,1:40779894:C>T,NM_001852.3:c.232G>A,NP_001843.1:p.Gly78Arg,4/32,\N,Unknown significance,\N,missense_variant,24.1,0.000226963,EVS_AA_AF,COL9A2
4550,1:40779895:G>A,NM_001852.3:c.231C>T,NP_001843.1:p.Asp77=,4/32,\N,Unknown significance,\N,synonymous_variant,5.759,0.0014,1KG_AMR_AF,COL9A2
4551,1:40779895:G>GTCTGGCCCA,NM_001852.3:c.222_230dup,NP_001843.1:p.Pro76_Gly78dup,4/32,\N,Unknown significance,\N,inframe_insertion,7.479,0.000060562,EXAC_SAS_AF,COL9A2
4552,1:40779895:G>T,NM_001852.3:c.231C>A,NP_001843.1:p.Asp77Glu,4/32,\N,Likely benign,\N,missense_variant,13.08,0.000116279,EVS_EA_AF,COL9A2
4553,1:40779896:T>C,NM_001852.3:c.230A>G,NP_001843.1:p.Asp77Gly,4/32,\N,Likely benign,\N,missense_variant,17.89,0.00110375,EXAC_OTH_AF,COL9A2
4554,1:40779896:T>G,NM_001852.3:c.230A>C,NP_001843.1:p.Asp77Ala,4/32,\N,Likely benign,\N,missense_variant,11.74,0.00129578,EXAC_AMR_AF,COL9A2
4555,1:40779904:A>G,NM_001852.3:c.222T>C,NP_001843.1:p.Asp74=,4/32,\N,Unknown significance,\N,synonymous_variant,5.442,0.000116279,EVS_EA_AF,COL9A2
4556,1:40779905:T>A,NM_001852.3:c.221A>T,NP_001843.1:p.Asp74Val,4/32,\N,Unknown significance,\N,missense_variant,22.5,0.001,1KG_EAS_AF,COL9A2
4557,1:40779908:G>T,NM_001852.3:c.218C>A,NP_001843.1:p.Pro73Gln,4/32,\N,Unknown significance,\N,missense_variant,19.75,0.000060562,EXAC_SAS_AF,COL9A2
4558,1:40779909:G>A,NM_001852.3:c.217C>T,NP_001843.1:p.Pro73Ser,4/32,\N,Unknown significance,\N,missense_variant,12.08,0.000577901,EXAC_EAS_AF,COL9A2
4559,1:40779927:C>T,NM_001852.3:c.199G>A,NP_001843.1:p.Glu67Lys,4/32,\N,Unknown significance,\N,missense_variant,23.3,0.000226963,EVS_AA_AF,COL9A2
4560,1:40779928:G>A,NM_001852.3:c.198C>T,NP_001843.1:p.Gly66=,4/32,\N,Unknown significance,\N,synonymous_variant,7.176,0.0000449546,EXAC_NFE_AF,COL9A2
4561,1:40779932:T>C,NM_001852.3:c.194A>G,NP_001843.1:p.Lys65Arg,4/32,\N,Unknown significance,\N,missense_variant,13.52,\N,\N,COL9A2
4562,1:40779943:G>T,NM_001852.3:c.187-4C>A,\N,\N,3/31,Unknown significance,\N,splice_region_variant&intron_variant,9.191,0.000115554,EXAC_EAS_AF,COL9A2
4563,1:40779948:C>G,NM_001852.3:c.187-9G>C,\N,\N,3/31,Unknown significance,\N,intron_variant,9.27,\N,\N,COL9A2
4564,1:40779951:A>T,NM_001852.3:c.187-12T>A,\N,\N,3/31,Unknown significance,\N,intron_variant,3.184,0.000693321,EXAC_EAS_AF,COL9A2
4565,1:40779953:A>G,NM_001852.3:c.187-14T>C,\N,\N,3/31,Unknown significance,\N,intron_variant,1.205,0.0000449546,EXAC_NFE_AF,COL9A2
4566,1:40779957:A>G,NM_001852.3:c.187-18T>C,\N,\N,3/31,Unknown significance,\N,intron_variant,2.35,0.000060562,EXAC_SAS_AF,COL9A2
4567,1:40779961:A>G,NM_001852.3:c.187-22T>C,\N,\N,3/31,Unknown significance,\N,intron_variant,3.207,0.00254218,EXAC_EAS_AF,COL9A2
4568,1:40779963:C>T,NM_001852.3:c.187-24G>A,\N,\N,3/31,Unknown significance,\N,intron_variant,4.845,0.000116279,EVS_EA_AF,COL9A2
4569,1:40779968:G>T,NM_001852.3:c.187-29C>A,\N,\N,3/31,Unknown significance,\N,intron_variant,2.121,0.00115554,EXAC_EAS_AF,COL9A2
4570,1:40779977:G>C,NM_001852.3:c.187-38C>G,\N,\N,3/31,Unknown significance,\N,intron_variant,0.967,0.000060562,EXAC_SAS_AF,COL9A2
4571,1:40779985:G>A,NM_001852.3:c.186+39C>T,\N,\N,3/31,Unknown significance,\N,intron_variant,3.099,0.00181571,EVS_AA_AF,COL9A2
4572,1:40779993:G>A,NM_001852.3:c.186+31C>T,\N,\N,3/31,Unknown significance,\N,intron_variant,9.005,0.001,1KG_EUR_AF,COL9A2
4573,1:40780010:G>A,NM_001852.3:c.186+14C>T,\N,\N,3/31,Unknown significance,\N,intron_variant,5.052,0.0000149858,EXAC_NFE_AF,COL9A2
4574,1:40780018:A>C,NM_001852.3:c.186+6T>G,\N,\N,3/31,Pathogenic,Multiple epiphyseal dysplasia,splice_region_variant&intron_variant,13.79,\N,\N,COL9A2
4575,1:40780019:C>G,NM_001852.3:c.186+5G>C,\N,\N,3/31,Pathogenic,Multiple epiphyseal dysplasia,splice_region_variant&intron_variant,17.97,\N,\N,COL9A2
4576,1:40780020:T>G,NM_001852.3:c.186+4A>C,\N,\N,3/31,Pathogenic,Multiple epiphyseal dysplasia,splice_region_variant&intron_variant,16.63,\N,\N,COL9A2
4577,1:40780022:A>G,NM_001852.3:c.186+2T>C,\N,\N,3/31,Pathogenic,Multiple epiphyseal dysplasia,splice_donor_variant,25,\N,\N,COL9A2
4578,1:40780023:C>A,NM_001852.3:c.186+1G>T,\N,\N,3/31,Pathogenic,Multiple epiphyseal dysplasia,splice_donor_variant,26.4,\N,\N,COL9A2
4579,1:40780024:C>G,NM_001852.3:c.186G>C,NP_001843.1:p.Pro62=,3/32,\N,Pathogenic,Multiple epiphyseal dysplasia,splice_region_variant&synonymous_variant,18.15,\N,\N,COL9A2
4580,1:40780024:C>T,NM_001852.3:c.186G>A,NP_001843.1:p.Pro62=,3/32,\N,Pathogenic,Multiple epiphyseal dysplasia,splice_region_variant&synonymous_variant,19.91,\N,\N,COL9A2
4581,1:40780025:G>A,NM_001852.3:c.185C>T,NP_001843.1:p.Pro62Leu,3/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.6,0.000172741,EXAC_AMR_AF,COL9A2
4582,1:40780043:G>A,NM_001852.3:c.167C>T,NP_001843.1:p.Pro56Leu,3/32,\N,Unknown significance,\N,missense_variant,23.2,0.000226963,EVS_AA_AF,COL9A2
4583,1:40780051:A>G,NM_001852.3:c.159T>C,NP_001843.1:p.Asn53=,3/32,\N,Unknown significance,\N,synonymous_variant,6.9,\N,\N,COL9A2
4584,1:40780056:C>T,NM_001852.3:c.154G>A,NP_001843.1:p.Asp52Asn,3/32,\N,Unknown significance,\N,missense_variant,25.2,0.0000149934,EXAC_NFE_AF,COL9A2
4585,1:40780058:C>A,NM_001852.3:c.152G>T,NP_001843.1:p.Gly51Val,3/32,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.1,0.000060562,EXAC_SAS_AF,COL9A2
4586,1:40780062:G>T,NM_001852.3:c.151-3C>A,\N,\N,2/31,Unknown significance,\N,splice_region_variant&intron_variant,15.56,0.000121124,EXAC_SAS_AF,COL9A2
4587,1:40780063:C>T,NM_001852.3:c.151-4G>A,\N,\N,2/31,Unknown significance,\N,splice_region_variant&intron_variant,15.72,0.001,1KG_EUR_AF,COL9A2
4588,1:40780067:A>G,NM_001852.3:c.151-8T>C,\N,\N,2/31,Benign,\N,splice_region_variant&intron_variant,14.75,0.0053,1KG_AFR_AF,COL9A2
4589,1:40780074:T>C,NM_001852.3:c.151-15A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,13.27,0.00110865,EXAC_OTH_AF,COL9A2
4590,1:40780093:C>T,NM_001852.3:c.151-34G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,5.634,0.000180061,EXAC_NFE_AF,COL9A2
4591,1:40780094:G>A,NM_001852.3:c.151-35C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,7.212,0.000060584,EXAC_SAS_AF,COL9A2
4592,1:40780101:A>G,NM_001852.3:c.151-42T>C,\N,\N,2/31,Benign,\N,intron_variant,1.3,0.0181587,EXAC_EAS_AF,COL9A2
4593,1:40780102:C>G,NM_001852.3:c.151-43G>C,\N,\N,2/31,Unknown significance,\N,intron_variant,5.337,0.0000865951,EXAC_AMR_AF,COL9A2
4594,1:40780102:C>T,NM_001852.3:c.151-43G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,6.611,0.00110865,EXAC_OTH_AF,COL9A2
4595,1:40780104:A>G,NM_001852.3:c.151-45T>C,\N,\N,2/31,Unknown significance,\N,intron_variant,6.107,0.00090854,EXAC_SAS_AF,COL9A2
4596,1:40780111:G>C,NM_001852.3:c.151-52C>G,\N,\N,2/31,Unknown significance,\N,intron_variant,0.85,0.0000605767,EXAC_SAS_AF,COL9A2
4597,1:40780133:A>G,NM_001852.3:c.151-74T>C,\N,\N,2/31,Unknown significance,\N,intron_variant,3.156,0.0023,1KG_AFR_AF,COL9A2
4598,1:40780137:C>T,NM_001852.3:c.151-78G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,7.178,0.002,1KG_SAS_AF,COL9A2
4599,1:40780198:T>C,NM_001852.3:c.151-139A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,2.525,0.0008,1KG_AFR_AF,COL9A2
4600,1:40780210:G>A,NM_001852.3:c.151-151C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,5.822,0.001,1KG_EAS_AF,COL9A2
4601,1:40780210:GC>G,NM_001852.3:c.151-152del,\N,\N,2/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4602,1:40780269:T>A,NM_001852.3:c.151-210A>T,\N,\N,2/31,Unknown significance,\N,intron_variant,5.483,\N,\N,COL9A2
4603,1:40780273:C>T,NM_001852.3:c.151-214G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,2.383,0.0031,1KG_SAS_AF,COL9A2
4604,1:40780286:G>C,NM_001852.3:c.151-227C>G,\N,\N,2/31,Unknown significance,\N,intron_variant,1.322,\N,\N,COL9A2
4605,1:40780316:T>C,NM_001852.3:c.151-257A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,4.326,\N,\N,COL9A2
4606,1:40780365:G>T,NM_001852.3:c.151-306C>A,\N,\N,2/31,Benign,\N,intron_variant,1.895,0.0297,1KG_SAS_AF,COL9A2
4607,1:40780410:G>A,NM_001852.3:c.151-351C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,9.05,\N,\N,COL9A2
4608,1:40780430:G>A,NM_001852.3:c.151-371C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,1.976,0.002,1KG_EAS_AF,COL9A2
4609,1:40780445:C>T,NM_001852.3:c.151-386G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,2.979,0.003,1KG_AFR_AF,COL9A2
4610,1:40780488:C>T,NM_001852.3:c.151-429G>A,\N,\N,2/31,Benign,\N,intron_variant,8.012,0.044,1KG_SAS_AF,COL9A2
4611,1:40780522:A>T,NM_001852.3:c.151-463T>A,\N,\N,2/31,Unknown significance,\N,intron_variant,1.549,0.0008,1KG_AFR_AF,COL9A2
4612,1:40780523:C>T,NM_001852.3:c.151-464G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,5.431,\N,\N,COL9A2
4613,1:40780526:C>A,NM_001852.3:c.151-467G>T,\N,\N,2/31,Unknown significance,\N,intron_variant,0.37,\N,\N,COL9A2
4614,1:40780533:G>GA,NM_001852.3:c.151-475dup,\N,\N,2/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4615,1:40780584:C>A,NM_001852.3:c.151-525G>T,\N,\N,2/31,Unknown significance,\N,intron_variant,14.88,0.001,1KG_EAS_AF,COL9A2
4616,1:40780618:G>A,NM_001852.3:c.151-559C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,3.336,0.002,1KG_EAS_AF,COL9A2
4617,1:40780684:C>T,NM_001852.3:c.150+578G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,14.9,0.0014,1KG_AMR_AF,COL9A2
4618,1:40780704:G>T,NM_001852.3:c.150+558C>A,\N,\N,2/31,Benign,\N,intron_variant,14.03,0.0484,1KG_AFR_AF,COL9A2
4619,1:40780705:T>G,NM_001852.3:c.150+557A>C,\N,\N,2/31,Unknown significance,\N,intron_variant,16.06,0.002,1KG_SAS_AF,COL9A2
4620,1:40780716:G>A,NM_001852.3:c.150+546C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,16.81,\N,\N,COL9A2
4621,1:40780717:G>T,NM_001852.3:c.150+545C>A,\N,\N,2/31,Unknown significance,\N,intron_variant,16.62,0.0008,1KG_AFR_AF,COL9A2
4622,1:40780777:G>A,NM_001852.3:c.150+485C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,6.391,\N,\N,COL9A2
4623,1:40780825:C>T,NM_001852.3:c.150+437G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,16.45,\N,\N,COL9A2
4624,1:40780837:G>A,NM_001852.3:c.150+425C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,5.846,0.001,1KG_EUR_AF,COL9A2
4625,1:40780866:T>C,NM_001852.3:c.150+396A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,16.42,0.001,1KG_EAS_AF,COL9A2
4626,1:40780888:T>C,NM_001852.3:c.150+374A>G,\N,\N,2/31,Benign,\N,intron_variant,6.684,0.0098,1KG_AFR_AF,COL9A2
4627,1:40780919:C>G,NM_001852.3:c.150+343G>C,\N,\N,2/31,Unknown significance,\N,intron_variant,11.03,0.0008,1KG_AFR_AF,COL9A2
4628,1:40780920:G>A,NM_001852.3:c.150+342C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,11,0.0008,1KG_AFR_AF,COL9A2
4629,1:40780925:G>A,NM_001852.3:c.150+337C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,10.16,\N,\N,COL9A2
4630,1:40780934:G>A,NM_001852.3:c.150+328C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,9.553,\N,\N,COL9A2
4631,1:40780956:C>A,NM_001852.3:c.150+306G>T,\N,\N,2/31,Benign,\N,intron_variant,7.745,0.0086,1KG_AMR_AF,COL9A2
4632,1:40780989:G>A,NM_001852.3:c.150+273C>T,\N,\N,2/31,Benign,\N,intron_variant,10.44,0.3116,1KG_AFR_AF,COL9A2
4633,1:40781015:T>C,NM_001852.3:c.150+247A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,10.78,\N,\N,COL9A2
4634,1:40781038:G>A,NM_001852.3:c.150+224C>T,\N,\N,2/31,Benign,\N,intron_variant,8.704,0.496,1KG_EAS_AF,COL9A2
4635,1:40781046:T>C,NM_001852.3:c.150+216A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,7.853,\N,\N,COL9A2
4636,1:40781066:G>T,NM_001852.3:c.150+196C>A,\N,\N,2/31,Unknown significance,\N,intron_variant,6.73,\N,\N,COL9A2
4637,1:40781068:T>C,NM_001852.3:c.150+194A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,3.853,0.001,1KG_SAS_AF,COL9A2
4638,1:40781073:A>G,NM_001852.3:c.150+189T>C,\N,\N,2/31,Unknown significance,\N,intron_variant,8.272,\N,\N,COL9A2
4639,1:40781074:T>A,NM_001852.3:c.150+188A>T,\N,\N,2/31,Unknown significance,\N,intron_variant,7.496,0.001,1KG_EUR_AF,COL9A2
4640,1:40781076:T>C,NM_001852.3:c.150+186A>G,\N,\N,2/31,Unknown significance,\N,intron_variant,6.62,0.0014,1KG_AMR_AF,COL9A2
4641,1:40781101:G>A,NM_001852.3:c.150+161C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,14.77,\N,\N,COL9A2
4642,1:40781149:G>T,NM_001852.3:c.150+113C>A,\N,\N,2/31,Unknown significance,\N,intron_variant,6.028,0.001,1KG_EUR_AF,COL9A2
4643,1:40781151:G>C,NM_001852.3:c.150+111C>G,\N,\N,2/31,Benign,\N,intron_variant,4.291,0.0427,1KG_EUR_AF,COL9A2
4644,1:40781163:C>A,NM_001852.3:c.150+99G>T,\N,\N,2/31,Unknown significance,\N,intron_variant,10.22,0.0023,1KG_AFR_AF,COL9A2
4645,1:40781165:C>T,NM_001852.3:c.150+97G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,9.103,0.0008,1KG_AFR_AF,COL9A2
4646,1:40781175:C>CG,NM_001852.3:c.150+86dup,\N,\N,2/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4647,1:40781175:CG>C,NM_001852.3:c.150+86del,\N,\N,2/31,Benign,\N,intron_variant,7.246,0.6954,1KG_EAS_AF,COL9A2
4648,1:40781175:CGA>C,NM_001852.3:c.150+85_150+86del,\N,\N,2/31,Unknown significance,\N,intron_variant,7.179,\N,\N,COL9A2
4649,1:40781176:G>C,NM_001852.3:c.150+86C>G,\N,\N,2/31,Unknown significance,\N,intron_variant,4.429,\N,\N,COL9A2
4650,1:40781176:GA>C,NM_001852.3:c.150+85_150+86delinsG,\N,\N,2/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4651,1:40781176:GA>G,NM_001852.3:c.150+85del,\N,\N,2/31,Unknown significance,\N,intron_variant,2.303,\N,\N,COL9A2
4652,1:40781177:A>C,NM_001852.3:c.150+85T>G,\N,\N,2/31,Benign,\N,intron_variant,2.211,0.6875,1KG_EAS_AF,COL9A2
4653,1:40781178:AG>A,NM_001852.3:c.150+83del,\N,\N,2/31,Unknown significance,\N,intron_variant,2.698,\N,\N,COL9A2
4654,1:40781179:G>A,NM_001852.3:c.150+83C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,6.443,0.002,1KG_EUR_AF,COL9A2
4655,1:40781182:C>T,NM_001852.3:c.150+80G>A,\N,\N,2/31,Unknown significance,\N,intron_variant,8.902,0.001,1KG_EUR_AF,COL9A2
4656,1:40781198:C>A,NM_001852.3:c.150+64G>T,\N,\N,2/31,Unknown significance,\N,intron_variant,10.21,\N,\N,COL9A2
4657,1:40781208:G>A,NM_001852.3:c.150+54C>T,\N,\N,2/31,Benign,\N,intron_variant,12.42,0.0069,1KG_EAS_AF,COL9A2
4658,1:40781208:G>C,NM_001852.3:c.150+54C>G,\N,\N,2/31,Unknown significance,\N,intron_variant,10.03,\N,\N,COL9A2
4659,1:40781223:C>A,NM_001852.3:c.150+39G>T,\N,\N,2/31,Unknown significance,\N,intron_variant,9.718,0.000127714,EXAC_NFE_AF,COL9A2
4660,1:40781224:C>G,NM_001852.3:c.150+38G>C,\N,\N,2/31,Unknown significance,\N,intron_variant,7.258,0.001,1KG_EAS_AF,COL9A2
4661,1:40781249:G>A,NM_001852.3:c.150+13C>T,\N,\N,2/31,Unknown significance,\N,intron_variant,10.86,0.0015,1KG_AFR_AF,COL9A2
4662,1:40781253:G>C,NM_001852.3:c.150+9C>G,\N,\N,2/31,Unknown significance,\N,intron_variant,13.54,\N,\N,COL9A2
4663,1:40781274:G>A,NM_001852.3:c.138C>T,NP_001843.1:p.Ser46=,2/32,\N,Unknown significance,\N,synonymous_variant,18.49,0.0002405,EVS_AA_AF,COL9A2
4664,1:40781281:G>C,NM_001852.3:c.131C>G,NP_001843.1:p.Pro44Arg,2/32,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,COL9A2
4665,1:40781286:T>C,NM_001852.3:c.126A>G,NP_001843.1:p.Gly42=,2/32,\N,Unknown significance,\N,synonymous_variant,9.508,0.00014556,EXAC_NFE_AF,COL9A2
4666,1:40781288:C>T,NM_001852.3:c.124G>A,NP_001843.1:p.Gly42Arg,2/32,\N,Unknown significance,\N,missense_variant,26.5,0.000552486,EXAC_AFR_AF,COL9A2
4667,1:40781292:C>CG,NM_001852.3:c.119dup,NP_001843.1:p.Pro41AlafsTer12,2/32,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,COL9A2
4668,1:40781295:TCCCGGGGGACCCGGGGGG>T,NM_001852.3:c.99_116del,NP_001843.1:p.Pro37_Gly42del,2/32,\N,Unknown significance,\N,inframe_deletion,21,\N,\N,COL9A2
4669,1:40781301:GGGACCCGGGGGGCCCCGCTCTCCCGGT>G,NM_001852.3:c.84_110del,NP_001843.1:p.Glu31_Gly39del,2/32,\N,Unknown significance,\N,inframe_deletion,\N,\N,\N,COL9A2
4670,1:40781307:C>A,NM_001852.3:c.105G>T,NP_001843.1:p.Pro35=,2/32,\N,Unknown significance,\N,synonymous_variant,21.8,\N,\N,COL9A2
4671,1:40781307:CG>C,NM_001852.3:c.104del,NP_001843.1:p.Pro35ArgfsTer51,2/32,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,COL9A2
4672,1:40781317:C>T,NM_001852.3:c.95G>A,NP_001843.1:p.Arg32Gln,2/32,\N,Benign,\N,missense_variant,22.3,0.0191781,EXAC_AFR_AF,COL9A2
4673,1:40781321:C>T,NM_001852.3:c.91G>A,NP_001843.1:p.Glu31Lys,2/32,\N,Unknown significance,\N,missense_variant,24.3,\N,\N,COL9A2
4674,1:40781324:C>T,NM_001852.3:c.88G>A,NP_001843.1:p.Gly30Arg,2/32,\N,Unknown significance,\N,missense_variant,26.3,0.003,1KG_EAS_AF,COL9A2
4675,1:40781332:C>A,NM_001852.3:c.80G>T,NP_001843.1:p.Gly27Val,2/32,\N,Unknown significance,\N,missense_variant,25.6,\N,\N,COL9A2
4676,1:40781338:T>A,NM_001852.3:c.76-2A>T,\N,\N,1/31,Unknown significance,\N,splice_acceptor_variant,25.8,0.00138889,EXAC_EAS_AF,COL9A2
4677,1:40781359:G>A,NM_001852.3:c.76-23C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,8.42,0.000187758,EXAC_NFE_AF,COL9A2
4678,1:40781370:G>A,NM_001852.3:c.76-34C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,9.115,\N,\N,COL9A2
4679,1:40781375:T>C,NM_001852.3:c.76-39A>G,\N,\N,1/31,Benign,\N,intron_variant,7.214,0.0180832,EXAC_AFR_AF,COL9A2
4680,1:40781388:G>A,NM_001852.3:c.76-52C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,9.781,0.001,1KG_EUR_AF,COL9A2
4681,1:40781412:C>T,NM_001852.3:c.76-76G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,12.09,\N,\N,COL9A2
4682,1:40781456:C>T,NM_001852.3:c.76-120G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,9.436,0.0014,1KG_AMR_AF,COL9A2
4683,1:40781480:A>G,NM_001852.3:c.76-144T>C,\N,\N,1/31,Unknown significance,\N,intron_variant,7.803,0.0008,1KG_AFR_AF,COL9A2
4684,1:40781527:G>A,NM_001852.3:c.76-191C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,8.328,\N,\N,COL9A2
4685,1:40781530:C>T,NM_001852.3:c.76-194G>A,\N,\N,1/31,Benign,\N,intron_variant,11.34,0.0051,1KG_SAS_AF,COL9A2
4686,1:40781543:G>C,NM_001852.3:c.76-207C>G,\N,\N,1/31,Unknown significance,\N,intron_variant,7.154,\N,\N,COL9A2
4687,1:40781545:T>G,NM_001852.3:c.76-209A>C,\N,\N,1/31,Unknown significance,\N,intron_variant,8.451,\N,\N,COL9A2
4688,1:40781584:G>A,NM_001852.3:c.76-248C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,9.091,\N,\N,COL9A2
4689,1:40781588:G>T,NM_001852.3:c.76-252C>A,\N,\N,1/31,Benign,\N,intron_variant,5.257,0.005,1KG_EAS_AF,COL9A2
4690,1:40781613:T>C,NM_001852.3:c.76-277A>G,\N,\N,1/31,Benign,\N,intron_variant,8.261,0.4177,1KG_EAS_AF,COL9A2
4691,1:40781748:G>A,NM_001852.3:c.76-412C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,9.037,\N,\N,COL9A2
4692,1:40781779:G>T,NM_001852.3:c.76-443C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,8.942,0.0014,1KG_AMR_AF,COL9A2
4693,1:40781825:G>A,NM_001852.3:c.76-489C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,11.25,\N,\N,COL9A2
4694,1:40781847:C>G,NM_001852.3:c.76-511G>C,\N,\N,1/31,Benign,\N,intron_variant,9.112,0.0212,1KG_AFR_AF,COL9A2
4695,1:40781858:G>A,NM_001852.3:c.76-522C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,14.88,0.001,1KG_SAS_AF,COL9A2
4696,1:40781859:A>T,NM_001852.3:c.76-523T>A,\N,\N,1/31,Unknown significance,\N,intron_variant,13.51,0.0014,1KG_AMR_AF,COL9A2
4697,1:40781891:G>A,NM_001852.3:c.76-555C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,10.01,0.0014,1KG_AMR_AF,COL9A2
4698,1:40781907:C>A,NM_001852.3:c.76-571G>T,\N,\N,1/31,Unknown significance,\N,intron_variant,11.23,\N,\N,COL9A2
4699,1:40781912:A>G,NM_001852.3:c.76-576T>C,\N,\N,1/31,Unknown significance,\N,intron_variant,9.233,0.001,1KG_EUR_AF,COL9A2
4700,1:40781916:T>G,NM_001852.3:c.76-580A>C,\N,\N,1/31,Unknown significance,\N,intron_variant,10.71,\N,\N,COL9A2
4701,1:40781922:C>T,NM_001852.3:c.76-586G>A,\N,\N,1/31,Benign,\N,intron_variant,13.19,0.044,1KG_SAS_AF,COL9A2
4702,1:40781932:GC>G,NM_001852.3:c.76-597del,\N,\N,1/31,Unknown significance,\N,intron_variant,\N,\N,\N,COL9A2
4703,1:40781935:C>T,NM_001852.3:c.76-599G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,12.27,0.0045,1KG_AFR_AF,COL9A2
4704,1:40781936:C>T,NM_001852.3:c.76-600G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,11.12,0.001,1KG_EUR_AF,COL9A2
4705,1:40781947:C>G,NM_001852.3:c.76-611G>C,\N,\N,1/31,Unknown significance,\N,intron_variant,8.014,\N,\N,COL9A2
4706,1:40781955:C>T,NM_001852.3:c.76-619G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,7.642,0.001,1KG_SAS_AF,COL9A2
4707,1:40781974:C>T,NM_001852.3:c.76-638G>A,\N,\N,1/31,Benign,\N,intron_variant,8.973,0.6944,1KG_EAS_AF,COL9A2
4708,1:40781985:G>A,NM_001852.3:c.76-649C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,8.019,0.0023,1KG_AFR_AF,COL9A2
4709,1:40782005:G>A,NM_001852.3:c.76-669C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,6.874,0.0023,1KG_AFR_AF,COL9A2
4710,1:40782061:C>T,NM_001852.3:c.76-725G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,10.02,0.0008,1KG_AFR_AF,COL9A2
4711,1:40782090:G>A,NM_001852.3:c.75+705C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,10.36,0.0029,1KG_AMR_AF,COL9A2
4712,1:40782105:A>C,NM_001852.3:c.75+690T>G,\N,\N,1/31,Unknown significance,\N,intron_variant,6.513,0.0031,1KG_SAS_AF,COL9A2
4713,1:40782147:C>T,NM_001852.3:c.75+648G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,10.57,\N,\N,COL9A2
4714,1:40782161:G>T,NM_001852.3:c.75+634C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,8.812,0.0023,1KG_AFR_AF,COL9A2
4715,1:40782162:A>T,NM_001852.3:c.75+633T>A,\N,\N,1/31,Unknown significance,\N,intron_variant,7.747,\N,\N,COL9A2
4716,1:40782169:A>T,NM_001852.3:c.75+626T>A,\N,\N,1/31,Unknown significance,\N,intron_variant,7.322,0.0015,1KG_AFR_AF,COL9A2
4717,1:40782194:G>A,NM_001852.3:c.75+601C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,7.648,\N,\N,COL9A2
4718,1:40782210:G>T,NM_001852.3:c.75+585C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,8.453,\N,\N,COL9A2
4719,1:40782245:G>C,NM_001852.3:c.75+550C>G,\N,\N,1/31,Unknown significance,\N,intron_variant,12.3,\N,\N,COL9A2
4720,1:40782247:G>A,NM_001852.3:c.75+548C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,13.8,\N,\N,COL9A2
4721,1:40782253:C>T,NM_001852.3:c.75+542G>A,\N,\N,1/31,Benign,\N,intron_variant,14.93,0.0219,1KG_AFR_AF,COL9A2
4722,1:40782268:G>A,NM_001852.3:c.75+527C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,9.95,0.001,1KG_EUR_AF,COL9A2
4723,1:40782271:G>T,NM_001852.3:c.75+524C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,9.364,\N,\N,COL9A2
4724,1:40782291:C>T,NM_001852.3:c.75+504G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,10.31,0.00013488,EXAC_SAS_AF,COL9A2
4725,1:40782300:A>T,NM_001852.3:c.75+495T>A,\N,\N,1/31,Benign,\N,intron_variant,8.478,0.0327869,EXAC_OTH_AF,COL9A2
4726,1:40782303:G>C,NM_001852.3:c.75+492C>G,\N,\N,1/31,Unknown significance,\N,intron_variant,7.984,0.0023,1KG_AFR_AF,COL9A2
4727,1:40782312:C>A,NM_001852.3:c.75+483G>T,\N,\N,1/31,Unknown significance,\N,intron_variant,10.46,0.002,1KG_SAS_AF,COL9A2
4728,1:40782337:C>T,NM_001852.3:c.75+458G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,11.75,0.001,1KG_EUR_AF,COL9A2
4729,1:40782342:G>A,NM_001852.3:c.75+453C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,10.14,0.000454545,EXAC_NFE_AF,COL9A2
4730,1:40782344:C>G,NM_001852.3:c.75+451G>C,\N,\N,1/31,Benign,\N,intron_variant,9.333,0.0727273,EXAC_OTH_AF,COL9A2
4731,1:40782362:C>T,NM_001852.3:c.75+433G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,12.15,0.000208333,EXAC_SAS_AF,COL9A2
4732,1:40782387:G>A,NM_001852.3:c.75+408C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,11.42,\N,\N,COL9A2
4733,1:40782390:C>A,NM_001852.3:c.75+405G>T,\N,\N,1/31,Unknown significance,\N,intron_variant,14,0.00253807,EXAC_NFE_AF,COL9A2
4734,1:40782401:G>T,NM_001852.3:c.75+394C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,9.731,0.0014,1KG_AMR_AF,COL9A2
4735,1:40782405:G>C,NM_001852.3:c.75+390C>G,\N,\N,1/31,Unknown significance,\N,intron_variant,8.903,\N,\N,COL9A2
4736,1:40782426:C>A,NM_001852.3:c.75+369G>T,\N,\N,1/31,Unknown significance,\N,intron_variant,11.19,0.001,1KG_EUR_AF,COL9A2
4737,1:40782438:G>A,NM_001852.3:c.75+357C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,7.687,\N,\N,COL9A2
4738,1:40782453:G>T,NM_001852.3:c.75+342C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,9.82,\N,\N,COL9A2
4739,1:40782462:G>T,NM_001852.3:c.75+333C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,11.24,\N,\N,COL9A2
4740,1:40782530:C>A,NM_001852.3:c.75+265G>T,\N,\N,1/31,Unknown significance,\N,intron_variant,14.99,\N,\N,COL9A2
4741,1:40782551:C>T,NM_001852.3:c.75+244G>A,\N,\N,1/31,Benign,\N,intron_variant,13.85,0.0552,1KG_SAS_AF,COL9A2
4742,1:40782622:C>A,NM_001852.3:c.75+173G>T,\N,\N,1/31,Unknown significance,\N,intron_variant,10.78,\N,\N,COL9A2
4743,1:40782642:G>T,NM_001852.3:c.75+153C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,8.504,\N,\N,COL9A2
4744,1:40782650:C>A,NM_001852.3:c.75+145G>T,\N,\N,1/31,Unknown significance,\N,intron_variant,11.7,0.001,1KG_SAS_AF,COL9A2
4745,1:40782657:A>T,NM_001852.3:c.75+138T>A,\N,\N,1/31,Unknown significance,\N,intron_variant,7.608,\N,\N,COL9A2
4746,1:40782686:C>T,NM_001852.3:c.75+109G>A,\N,\N,1/31,Unknown significance,\N,intron_variant,11.36,0.0038,1KG_AFR_AF,COL9A2
4747,1:40782748:A>G,NM_001852.3:c.75+47T>C,\N,\N,1/31,Unknown significance,\N,intron_variant,8.597,0.000135026,EXAC_NFE_AF,COL9A2
4748,1:40782750:A>T,NM_001852.3:c.75+45T>A,\N,\N,1/31,Unknown significance,\N,intron_variant,5.018,0.000126167,EXAC_SAS_AF,COL9A2
4749,1:40782779:G>A,NM_001852.3:c.75+16C>T,\N,\N,1/31,Unknown significance,\N,intron_variant,8.111,0.000125251,EXAC_SAS_AF,COL9A2
4750,1:40782781:G>T,NM_001852.3:c.75+14C>A,\N,\N,1/31,Unknown significance,\N,intron_variant,8.244,0.00418994,EXAC_EAS_AF,COL9A2
4751,1:40782783:T>A,NM_001852.3:c.75+12A>T,\N,\N,1/31,Unknown significance,\N,intron_variant,10.17,0.00042337,EXAC_AFR_AF,COL9A2
4752,1:40782790:C>T,NM_001852.3:c.75+5G>A,\N,\N,1/31,Unknown significance,\N,splice_region_variant&intron_variant,14.87,0.000211551,EXAC_NFE_AF,COL9A2
4753,1:40782791:T>C,NM_001852.3:c.75+4A>G,\N,\N,1/31,Unknown significance,\N,splice_region_variant&intron_variant,11.81,\N,\N,COL9A2
4754,1:40782799:T>A,NM_001852.3:c.71A>T,NP_001843.1:p.Gln24Leu,1/32,\N,Unknown significance,\N,missense_variant,23.5,0.000246853,EXAC_SAS_AF,COL9A2
4755,1:40782806:G>C,NM_001852.3:c.64C>G,NP_001843.1:p.Leu22Val,1/32,\N,Unknown significance,\N,missense_variant,15.22,0.000878735,EXAC_EAS_AF,COL9A2
4756,1:40782817:A>G,NM_001852.3:c.53T>C,NP_001843.1:p.Val18Ala,1/32,\N,Likely benign,\N,missense_variant,23.1,\N,\N,COL9A2
4757,1:40782823:TGGA>T,NM_001852.3:c.44_46del,NP_001843.1:p.Leu15del,1/32,\N,Unknown significance,\N,inframe_deletion,15.88,0.0000684744,EXAC_NFE_AF,COL9A2
4758,1:40782827:G>A,NM_001852.3:c.43C>T,NP_001843.1:p.Leu15Phe,1/32,\N,Likely benign,\N,missense_variant,20.2,0.000117288,EXAC_SAS_AF,COL9A2
4759,1:40782830:G>T,NM_001852.3:c.40C>A,NP_001843.1:p.Leu14Ile,1/32,\N,Likely benign,\N,missense_variant,8.528,0.000334448,EXAC_AFR_AF,COL9A2
4760,1:40782839:G>A,NM_001852.3:c.31C>T,NP_001843.1:p.Leu11Phe,1/32,\N,Benign,\N,missense_variant,13.47,0.0257596,EXAC_AFR_AF,COL9A2
4761,1:40782840:G>A,NM_001852.3:c.30C>T,NP_001843.1:p.Ser10=,1/32,\N,Unknown significance,\N,synonymous_variant,9.756,0.000116713,EVS_EA_AF,COL9A2
4762,1:40782844:C>CG,NM_001852.3:c.25dup,NP_001843.1:p.Arg9ProfsTer18,1/32,\N,Unknown significance,\N,frameshift_variant,27.1,\N,\N,COL9A2
4763,1:40782845:G>C,NM_001852.3:c.25C>G,NP_001843.1:p.Arg9Gly,1/32,\N,Unknown significance,\N,missense_variant,19.92,0.0000652571,EXAC_NFE_AF,COL9A2
4764,1:40782848:G>C,NM_001852.3:c.22C>G,NP_001843.1:p.Pro8Ala,1/32,\N,Likely benign,\N,missense_variant,0.064,0.000116686,EVS_EA_AF,COL9A2
4765,1:40782849:G>C,NM_001852.3:c.21C>G,NP_001843.1:p.Ser7=,1/32,\N,Unknown significance,\N,synonymous_variant,5.837,0.000115607,EXAC_SAS_AF,COL9A2
4766,1:40782850:G>A,NM_001852.3:c.20C>T,NP_001843.1:p.Ser7Phe,1/32,\N,Likely benign,\N,missense_variant,19.68,0.000115447,EXAC_SAS_AF,COL9A2
4767,1:40782853:G>C,NM_001852.3:c.17C>G,NP_001843.1:p.Ala6Gly,1/32,\N,Likely benign,\N,missense_variant,11.33,0.0000670691,EXAC_NFE_AF,COL9A2
4768,1:40782860:C>T,NM_001852.3:c.10G>A,NP_001843.1:p.Ala4Thr,1/32,\N,Likely benign,\N,missense_variant,13.84,0.0015,1KG_AFR_AF,COL9A2
4769,1:40782863:C>T,NM_001852.3:c.7G>A,NP_001843.1:p.Ala3Thr,1/32,\N,Likely benign,\N,missense_variant,15.2,0.00179856,EXAC_AFR_AF,COL9A2
4770,1:40782869:T>C,NM_001852.3:c.1A>G,NP_001843.1:p.Met1?,1/32,\N,Unknown significance,\N,start_lost,11.05,0.0000825083,EXAC_NFE_AF,COL9A2
4771,1:40782876:C>G,NM_001852.3:c.-7G>C,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,10.45,\N,\N,COL9A2
4772,1:40782879:CG>C,NM_001852.3:c.-11del,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,9.892,0.00173675,EXAC_NFE_AF,COL9A2
4773,1:40782880:G>T,NM_001852.3:c.-11C>A,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,8.69,0.000121566,EXAC_SAS_AF,COL9A2
4774,1:40782894:C>T,NM_001852.3:c.-25G>A,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,12.59,\N,\N,COL9A2
4775,1:40782894:CG>C,NM_001852.3:c.-26del,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,10.68,\N,\N,COL9A2
4776,1:40782895:G>C,NM_001852.3:c.-26C>G,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,8.38,0.000124131,EXAC_SAS_AF,COL9A2
4777,1:40782896:G>T,NM_001852.3:c.-27C>A,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,9.871,0.000475737,EXAC_AFR_AF,COL9A2
4778,1:40782900:C>T,NM_001852.3:c.-31G>A,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,12.16,0.000239406,EVS_EA_AF,COL9A2
4779,1:40782901:G>A,NM_001852.3:c.-32C>T,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,11.25,0.000475059,EVS_AA_AF,COL9A2
4780,1:40782906:C>G,NM_001852.3:c.-37G>C,\N,1/32,\N,Benign,\N,5_prime_UTR_variant,12.29,0.0053,1KG_AFR_AF,COL9A2
4781,1:40782907:G>A,NM_001852.3:c.-38C>T,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,12.26,\N,\N,COL9A2
4782,1:40782910:C>G,NM_001852.3:c.-41G>C,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,12.48,0.000556174,EXAC_AFR_AF,COL9A2
4783,1:40782911:A>G,NM_001852.3:c.-42T>C,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,12.25,0.000125818,EXAC_SAS_AF,COL9A2
4784,1:40782912:C>T,NM_001852.3:c.-43G>A,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,15.55,0.00148185,EXAC_NFE_AF,COL9A2
4785,1:40782913:G>A,NM_001852.3:c.-44C>T,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,15.12,\N,\N,COL9A2
4786,1:40782915:A>G,NM_001852.3:c.-46T>C,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,13.22,\N,\N,COL9A2
4787,1:40782920:C>A,NM_001852.3:c.-51G>T,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,16.52,\N,\N,COL9A2
4788,1:40782921:G>A,NM_001852.3:c.-52C>T,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,15.51,\N,\N,COL9A2
4789,1:40782921:G>T,NM_001852.3:c.-52C>A,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,13.93,\N,\N,COL9A2
4790,1:40782934:G>A,NM_001852.3:c.-65C>T,\N,1/32,\N,Unknown significance,\N,5_prime_UTR_variant,10.41,0.0015,1KG_AFR_AF,COL9A