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
440445,2:73612893:C>A,NM_015120.4:c.-104C>A,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,11.2,\N,\N,ALMS1
440446,2:73612919:A>G,NM_015120.4:c.-78A>G,\N,1/23,\N,Benign,\N,5_prime_UTR_variant,11.87,0.0061,1KG_SAS_AF,ALMS1
440447,2:73612935:C>T,NM_015120.4:c.-62C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,6.885,0.0008,1KG_AFR_AF,ALMS1
440448,2:73612949:C>G,NM_015120.4:c.-48C>G,\N,1/23,\N,Benign,\N,5_prime_UTR_variant,7.359,0.0103093,EXAC_AFR_AF,ALMS1
440449,2:73612949:C>T,NM_015120.4:c.-48C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,8.845,0.002,1KG_EUR_AF,ALMS1
440450,2:73612951:TC>T,NM_015120.4:c.-39del,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,5.324,0.00499232,EXAC_SAS_AF,ALMS1
440451,2:73612952:C>T,NM_015120.4:c.-45C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,8.635,0.0044586,EXAC_SAS_AF,ALMS1
440452,2:73612956:C>CCCT,NM_015120.4:c.-27_-25dup,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,\N,\N,\N,ALMS1
440453,2:73612956:C>T,NM_015120.4:c.-41C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,9.041,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ALMS1
440454,2:73612956:CCCT>C,NM_015120.4:c.-27_-25del,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,7.529,\N,\N,ALMS1
440455,2:73612957:C>T,NM_015120.4:c.-40C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,7.911,\N,\N,ALMS1
440456,2:73612958:C>G,NM_015120.4:c.-39C>G,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,3.07,0.0010989,EXAC_SAS_AF,ALMS1
440457,2:73612959:T>C,NM_015120.4:c.-38T>C,\N,1/23,\N,Benign,\N,5_prime_UTR_variant,1.223,0.0147059,EXAC_EAS_AF,ALMS1
440458,2:73612970:C>T,NM_015120.4:c.-27C>T,\N,1/23,\N,Benign,\N,5_prime_UTR_variant,11.43,0.0106022,EXAC_SAS_AF,ALMS1
440459,2:73612976:C>T,NM_015120.4:c.-21C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,13.39,0.0008,1KG_AFR_AF,ALMS1
440460,2:73612980:C>T,NM_015120.4:c.-17C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,15,0.0031,1KG_SAS_AF,ALMS1
440461,2:73612981:A>G,NM_015120.4:c.-16A>G,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,14.16,0.000195236,EXAC_SAS_AF,ALMS1
440462,2:73612996:C>T,NM_015120.4:c.-1C>T,\N,1/23,\N,Unknown significance,\N,5_prime_UTR_variant,17.98,0.000358423,EXAC_SAS_AF,ALMS1
440463,2:73613002:G>T,NM_015120.4:c.6G>T,NP_055935.4:p.Glu2Asp,1/23,\N,Unknown significance,\N,missense_variant,26.6,0.000176616,EXAC_SAS_AF,ALMS1
440464,2:73613005:C>T,NM_015120.4:c.9C>T,NP_055935.4:p.Pro3=,1/23,\N,Unknown significance,\N,synonymous_variant,20.9,0.001,1KG_EAS_AF,ALMS1
440465,2:73613017:A>G,NM_015120.4:c.21A>G,NP_055935.4:p.Pro7=,1/23,\N,Unknown significance,\N,synonymous_variant,11.35,\N,\N,ALMS1
440466,2:73613021:C>T,NM_015120.4:c.25C>T,NP_055935.4:p.Pro9Ser,1/23,\N,Benign,\N,missense_variant,24.1,0.0169492,EXAC_OTH_AF,ALMS1
440467,2:73613030:C>G,NM_015120.4:c.34C>G,NP_055935.4:p.Leu12Val,1/23,\N,Unknown significance,\N,missense_variant,20.7,\N,\N,ALMS1
440468,2:73613031:T>TGGA,NM_015120.4:c.72_74dup,NP_055935.4:p.Glu28dup,1/23,\N,Benign,\N,inframe_insertion,19.65,0.157407,EXAC_EAS_AF,ALMS1
440469,2:73613031:T>TGGAGGA,NM_015120.4:c.69_74dup,NP_055935.4:p.Glu27_Glu28dup,1/23,\N,Benign,Alstrom syndrome,inframe_insertion,19.33,\N,\N,ALMS1
440470,2:73613031:T>TGGAGGAGGAGGA,NM_015120.4:c.63_74dup,NP_055935.4:p.Glu25_Glu28dup,1/23,\N,Benign,Alstrom syndrome,inframe_insertion,\N,\N,\N,ALMS1
440471,2:73613031:TGGA>T,NM_015120.4:c.72_74del,NP_055935.4:p.Glu29del,1/23,\N,Benign,\N,inframe_deletion,21.2,0.0756579,EXAC_AFR_AF,ALMS1
440472,2:73613031:TGGAGGA>T,NM_015120.4:c.69_74del,NP_055935.4:p.Glu28_Glu29del,1/23,\N,Benign,\N,inframe_deletion,21.3,0.9183,1KG_AFR_AF,ALMS1
440473,2:73613031:TGGAGGAGGA>T,NM_015120.4:c.66_74del,NP_055935.4:p.Glu27_Glu29del,1/23,\N,Benign,\N,inframe_deletion,21.5,0.052901,EXAC_SAS_AF,ALMS1
440474,2:73613031:T>A,NM_015120.4:c.35T>A,NP_055935.4:p.Leu12Gln,1/23,\N,Unknown significance,\N,missense_variant,24.3,\N,\N,ALMS1
440475,2:73613031:TGGAGGAGGAGGA>T,NM_015120.4:c.63_74del,NP_055935.4:p.Glu26_Glu29del,1/23,\N,Benign,\N,inframe_deletion,21.2,0.00570342,EXAC_NFE_AF,ALMS1
440476,2:73613031:TGGAGGAGGAGGAGGA>T,NM_015120.4:c.60_74del,NP_055935.4:p.Glu25_Glu29del,1/23,\N,Benign,\N,inframe_deletion,20.9,0.0805921,EXAC_AFR_AF,ALMS1
440477,2:73613043:AG>A,NM_015120.4:c.49del,NP_055935.4:p.Glu17ArgfsTer25,1/23,\N,Unknown significance,\N,frameshift_variant,26.4,\N,\N,ALMS1
440478,2:73613046:AGGAGG>A,NM_015120.4:c.51_55del,NP_055935.4:p.Glu18GlyfsTer108,1/23,\N,Unknown significance,\N,frameshift_variant,25.9,\N,\N,ALMS1
440479,2:73613050:G>GGGA,NM_015120.4:c.55_56insGAG,NP_055935.4:p.Glu18_Glu19insGly,1/23,\N,Unknown significance,\N,inframe_insertion,\N,\N,\N,ALMS1
440480,2:73613052:AGG>A,NM_015120.4:c.57_58del,NP_055935.4:p.Glu20GlyfsTer107,1/23,\N,Unknown significance,\N,frameshift_variant,22.9,\N,\N,ALMS1
440481,2:73613055:AG>A,NM_015120.4:c.61del,NP_055935.4:p.Glu21ArgfsTer21,1/23,\N,Unknown significance,\N,frameshift_variant,18.48,\N,\N,ALMS1
440482,2:73613056:G>A,NM_015120.4:c.60G>A,NP_055935.4:p.Glu20=,1/23,\N,Unknown significance,\N,synonymous_variant,7.815,\N,\N,ALMS1
440483,2:73613059:G>GGAGGAGGAGGAA,NM_015120.4:c.74_85dup,NP_055935.4:p.Glu26_Glu29dup,1/23,\N,Unknown significance,\N,inframe_insertion,4.978,\N,\N,ALMS1
440484,2:73613060:G>GAGA,NM_015120.4:c.66_67insAAG,NP_055935.4:p.Glu22_Glu23insLys,1/23,\N,Unknown significance,\N,inframe_insertion,6.326,\N,\N,ALMS1
440485,2:73613065:GGAGGAA>G,NM_015120.4:c.78_83del,NP_055935.4:p.Glu28_Glu29del,1/23,\N,Unknown significance,\N,inframe_deletion,1.21,\N,\N,ALMS1
440486,2:73613069:G>GGGAGGA,NM_015120.4:c.73_74insGGAGGA,NP_055935.4:p.Glu25delinsGlyArgLys,1/23,\N,Benign,\N,protein_altering_variant,\N,\N,\N,ALMS1
440487,2:73613070:A>AGG,NM_015120.4:c.74_75insGG,NP_055935.4:p.Glu27ArgfsTer15,1/23,\N,Unknown significance,\N,frameshift_variant,13.51,\N,\N,ALMS1
440488,2:73613071:AGAGGAGGAG>A,NM_015120.4:c.77_85del,NP_055935.4:p.Glu27_Glu29del,1/23,\N,Likely benign,\N,inframe_deletion,\N,\N,\N,ALMS1
440489,2:73613071:A>AG,NM_015120.4:c.76dup,NP_055935.4:p.Glu27GlyfsTer101,1/23,\N,Unknown significance,\N,frameshift_variant,19.42,\N,\N,ALMS1
440490,2:73613071:A>G,NM_015120.4:c.75A>G,NP_055935.4:p.Glu26=,1/23,\N,Unknown significance,\N,synonymous_variant,2.124,\N,\N,ALMS1
440491,2:73613074:G>A,NM_015120.4:c.78G>A,NP_055935.4:p.Glu27=,1/23,\N,Unknown significance,\N,synonymous_variant,5.909,\N,\N,ALMS1
440492,2:73613082:C>G,NM_015120.4:c.86C>G,NP_055935.4:p.Ala30Gly,1/23,\N,Likely benign,\N,missense_variant,2.237,\N,\N,ALMS1
440493,2:73613083:T>G,NM_015120.4:c.87T>G,NP_055935.4:p.Ala30=,1/23,\N,Unknown significance,\N,synonymous_variant,3.643,\N,\N,ALMS1
440494,2:73613086:A>AGCG,NM_015120.4:c.103_105dup,NP_055935.4:p.Ala36dup,1/23,\N,Unknown significance,\N,inframe_insertion,\N,0.00295858,EXAC_AMR_AF,ALMS1
440495,2:73613086:A>AGCGGCG,NM_015120.4:c.100_105dup,NP_055935.4:p.Ala35_Ala36dup,1/23,\N,Benign,\N,inframe_insertion,\N,0.00632911,EXAC_OTH_AF,ALMS1
440496,2:73613086:AGCGGCG>A,NM_015120.4:c.100_105del,NP_055935.4:p.Ala35_Ala36del,1/23,\N,Unknown significance,\N,inframe_deletion,10.28,0.000154464,EXAC_NFE_AF,ALMS1
440497,2:73613089:G>A,NM_015120.4:c.93G>A,NP_055935.4:p.Ala32=,1/23,\N,Unknown significance,\N,synonymous_variant,10.04,\N,\N,ALMS1
440498,2:73613090:G>A,NM_015120.4:c.94G>A,NP_055935.4:p.Ala33Thr,1/23,\N,Likely benign,\N,missense_variant,3.728,\N,\N,ALMS1
440499,2:73613105:G>C,NM_015120.4:c.109G>C,NP_055935.4:p.Val38Leu,1/23,\N,Likely benign,\N,missense_variant,0.358,\N,\N,ALMS1
440500,2:73613106:T>G,NM_015120.4:c.110T>G,NP_055935.4:p.Val38Gly,1/23,\N,Likely benign,\N,missense_variant,2.177,\N,\N,ALMS1
440501,2:73613110:C>T,NM_015120.4:c.114C>T,NP_055935.4:p.Asp39=,1/23,\N,Unknown significance,\N,synonymous_variant,14.25,0.000140964,EXAC_NFE_AF,ALMS1
440502,2:73613116:A>G,NM_015120.4:c.120A>G,NP_055935.4:p.Val41=,1/23,\N,Unknown significance,\N,synonymous_variant,0.161,0.001,1KG_EAS_AF,ALMS1
440503,2:73613116:A>T,NM_015120.4:c.120A>T,NP_055935.4:p.Val41=,1/23,\N,Unknown significance,\N,synonymous_variant,0.01,\N,\N,ALMS1
440504,2:73613117:G>C,NM_015120.4:c.121G>C,NP_055935.4:p.Val42Leu,1/23,\N,Likely benign,\N,missense_variant,0.187,0.00111111,EXAC_AFR_AF,ALMS1
440505,2:73613122:C>A,NM_015120.4:c.126C>A,NP_055935.4:p.Val43=,1/23,\N,Unknown significance,\N,synonymous_variant,15.48,\N,\N,ALMS1
440506,2:73613122:C>CGTGGAGGAG,NM_015120.4:c.135_143dup,NP_055935.4:p.Val47_Glu49dup,1/23,\N,Unknown significance,\N,inframe_insertion,11.18,\N,\N,ALMS1
440507,2:73613128:G>T,NM_015120.4:c.132G>T,NP_055935.4:p.Glu45Asp,1/23,\N,Unknown significance,\N,missense_variant,19.6,0.00144509,EXAC_EAS_AF,ALMS1
440508,2:73613129:G>A,NM_015120.4:c.133G>A,NP_055935.4:p.Glu46Lys,1/23,\N,Likely benign,\N,missense_variant,23.9,\N,\N,ALMS1
440509,2:73613131:G>T,NM_015120.4:c.135G>T,NP_055935.4:p.Glu46Asp,1/23,\N,Likely benign,\N,missense_variant,4.75,\N,\N,ALMS1
440510,2:73613138:G>A,NM_015120.4:c.142G>A,NP_055935.4:p.Glu49Lys,1/23,\N,Unknown significance,\N,missense_variant,14.69,0.0010989,EXAC_EAS_AF,ALMS1
440511,2:73613144:G>A,NM_015120.4:c.148G>A,NP_055935.4:p.Ala51Thr,1/23,\N,Likely benign,\N,missense_variant,10.73,0.001,1KG_EAS_AF,ALMS1
440512,2:73613145:C>A,NM_015120.4:c.149C>A,NP_055935.4:p.Ala51Glu,1/23,\N,Likely benign,\N,missense_variant,4.093,0.001,1KG_EAS_AF,ALMS1
440513,2:73613146:G>T,NM_015120.4:c.150G>T,NP_055935.4:p.Ala51=,1/23,\N,Unknown significance,\N,synonymous_variant,6.705,\N,\N,ALMS1
440514,2:73613154:A>G,NM_015120.4:c.158A>G,NP_055935.4:p.Glu54Gly,1/23,\N,Unknown significance,\N,missense_variant,17.51,\N,\N,ALMS1
440515,2:73613156:T>G,NM_015120.4:c.160T>G,NP_055935.4:p.Leu55Val,1/23,\N,Likely benign,\N,missense_variant,0.57,\N,\N,ALMS1
440516,2:73613157:T>A,NM_015120.4:c.161T>A,NP_055935.4:p.Leu55Ter,1/23,\N,Unknown significance,\N,stop_gained,23.7,0.000102041,EXAC_NFE_AF,ALMS1
440517,2:73613161:C>T,NM_015120.4:c.165C>T,NP_055935.4:p.Asp56=,1/23,\N,Unknown significance,\N,synonymous_variant,8.825,\N,\N,ALMS1
440518,2:73613164:C>A,NM_015120.4:c.168C>A,NP_055935.4:p.Ser57=,1/23,\N,Unknown significance,\N,synonymous_variant,15.36,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,ALMS1
440519,2:73613164:C>T,NM_015120.4:c.168C>T,NP_055935.4:p.Ser57=,1/23,\N,Unknown significance,\N,synonymous_variant,14.06,0.000191351,EXAC_NFE_AF,ALMS1
440520,2:73613165:G>A,NM_015120.4:c.169G>A,NP_055935.4:p.Asp58Asn,1/23,\N,Likely benign,\N,missense_variant,14.76,0.000274801,EXAC_SAS_AF,ALMS1
440521,2:73613169:C>G,NM_015120.4:c.173C>G,NP_055935.4:p.Ser59Cys,1/23,\N,Likely benign,\N,missense_variant,9.084,0.00100402,EXAC_EAS_AF,ALMS1
440522,2:73613172:A>T,NM_015120.4:c.176A>T,NP_055935.4:p.His60Leu,1/23,\N,Likely benign,\N,missense_variant,9.819,0.00104167,EXAC_AMR_AF,ALMS1
440523,2:73613177:G>C,NM_015120.4:c.181G>C,NP_055935.4:p.Gly62Arg,1/23,\N,Unknown significance,\N,missense_variant,11.57,0.000078064,EXAC_NFE_AF,ALMS1
440524,2:73613183:CA>C,NM_015120.4:c.188del,NP_055935.4:p.Gln64ArgfsTer6,1/23,\N,Unknown significance,\N,frameshift_variant,20.8,\N,\N,ALMS1
440525,2:73613185:G>C,NM_015120.4:c.189G>C,NP_055935.4:p.Gln64His,1/23,\N,Likely benign,\N,missense_variant,12.27,\N,\N,ALMS1
440526,2:73613187:A>G,NM_015120.4:c.191A>G,NP_055935.4:p.His65Arg,1/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
440527,2:73613196:G>A,NM_015120.4:c.200G>A,NP_055935.4:p.Ser68Asn,1/23,\N,Likely benign,\N,missense_variant,19.72,0.000350385,EXAC_AFR_AF,ALMS1
440528,2:73613197:T>C,NM_015120.4:c.201T>C,NP_055935.4:p.Ser68=,1/23,\N,Unknown significance,\N,synonymous_variant,2.831,0.0000552486,EXAC_NFE_AF,ALMS1
440529,2:73613199:T>C,NM_015120.4:c.203T>C,NP_055935.4:p.Ile69Thr,1/23,\N,Likely benign,\N,missense_variant,0.002,0.000342231,EXAC_AFR_AF,ALMS1
440530,2:73613203:C>CGACGAGGAG,NM_015120.4:c.218_226dup,NP_055935.4:p.Asp74_Glu76dup,1/23,\N,Unknown significance,\N,inframe_insertion,11.89,0.0000522685,EXAC_NFE_AF,ALMS1
440531,2:73613203:C>G,NM_015120.4:c.207C>G,NP_055935.4:p.Asp70Glu,1/23,\N,Likely benign,\N,missense_variant,22.3,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,ALMS1
440532,2:73613207:G>A,NM_015120.4:c.211G>A,NP_055935.4:p.Glu72Lys,1/23,\N,Likely benign,\N,missense_variant,23.9,0.0000528262,EXAC_NFE_AF,ALMS1
440533,2:73613214:A>ACGAGGAGGC,NM_015120.4:c.220_228dup,NP_055935.4:p.Glu75_Ala77dup,1/23,\N,Unknown significance,\N,inframe_insertion,13.33,0.0000513242,EXAC_NFE_AF,ALMS1
440534,2:73613214:A>G,NM_015120.4:c.218A>G,NP_055935.4:p.Asp74Gly,1/23,\N,Unknown significance,\N,missense_variant,24,0.0000513242,EXAC_NFE_AF,ALMS1
440535,2:73613217:A>T,NM_015120.4:c.221A>T,NP_055935.4:p.Glu75Val,1/23,\N,Unknown significance,\N,missense_variant,27.7,0.0000524384,EXAC_NFE_AF,ALMS1
440536,2:73613224:C>G,NM_015120.4:c.228C>G,NP_055935.4:p.Ala77=,1/23,\N,Unknown significance,\N,synonymous_variant,12.4,0.0000536251,EXAC_NFE_AF,ALMS1
440537,2:73613230:C>G,NM_015120.4:c.234C>G,NP_055935.4:p.Ala79=,1/23,\N,Unknown significance,\N,synonymous_variant,16.15,0.000121153,EVS_EA_AF,ALMS1
440538,2:73613230:C>T,NM_015120.4:c.234C>T,NP_055935.4:p.Ala79=,1/23,\N,Unknown significance,\N,synonymous_variant,18.61,0.00191755,EXAC_EAS_AF,ALMS1
440539,2:73613231:T>C,NM_015120.4:c.235T>C,NP_055935.4:p.Trp80Arg,1/23,\N,Unknown significance,\N,missense_variant,23.3,0.000117841,EXAC_SAS_AF,ALMS1
440540,2:73613237:C>A,NM_015120.4:c.241C>A,NP_055935.4:p.Gln82Lys,1/23,\N,Unknown significance,\N,missense_variant,21.4,0.000178699,EXAC_NFE_AF,ALMS1
440541,2:73613241:C>T,NM_015120.4:c.245C>T,NP_055935.4:p.Ala83Val,1/23,\N,Unknown significance,\N,missense_variant,34,0.000251636,EXAC_NFE_AF,ALMS1
440542,2:73613245:C>A,NM_015120.4:c.249C>A,NP_055935.4:p.His84Gln,1/23,\N,Likely benign,\N,missense_variant,24,0.00348837,EXAC_EAS_AF,ALMS1
440543,2:73613248:C>A,NM_015120.4:c.252C>A,NP_055935.4:p.Pro85=,1/23,\N,Unknown significance,\N,synonymous_variant,22.1,0.000120977,EXAC_SAS_AF,ALMS1
440544,2:73613249:G>A,NM_015120.4:c.253G>A,NP_055935.4:p.Gly86Ser,1/23,\N,Likely benign,\N,missense_variant,22.9,0.000121448,EXAC_SAS_AF,ALMS1
440545,2:73613252:A>G,NM_015120.4:c.256A>G,NP_055935.4:p.Arg87Gly,1/23,\N,Likely benign,\N,missense_variant,4.11,0.0000718288,EXAC_NFE_AF,ALMS1
440546,2:73613268:T>C,NM_015120.4:c.272T>C,NP_055935.4:p.Leu92Pro,1/23,\N,Likely benign,\N,missense_variant,1.932,\N,\N,ALMS1
440547,2:73613274:C>A,NM_015120.4:c.278C>A,NP_055935.4:p.Pro94His,1/23,\N,Unknown significance,\N,missense_variant,17.4,0.001,1KG_SAS_AF,ALMS1
440548,2:73613275:C>T,NM_015120.4:c.279C>T,NP_055935.4:p.Pro94=,1/23,\N,Unknown significance,\N,synonymous_variant,9.225,\N,\N,ALMS1
440549,2:73613276:C>T,NM_015120.4:c.280C>T,NP_055935.4:p.Pro95Ser,1/23,\N,Likely benign,\N,missense_variant,0.021,\N,\N,ALMS1
440550,2:73613277:C>T,NM_015120.4:c.281C>T,NP_055935.4:p.Pro95Leu,1/23,\N,Unknown significance,\N,missense_variant,21.4,0.000256542,EXAC_NFE_AF,ALMS1
440551,2:73613278:G>A,NM_015120.4:c.282G>A,NP_055935.4:p.Pro95=,1/23,\N,Unknown significance,\N,synonymous_variant,9.989,\N,\N,ALMS1
440552,2:73613279:C>T,NM_015120.4:c.283C>T,NP_055935.4:p.Gln96Ter,1/23,\N,Unknown significance,\N,stop_gained,17.57,0.000130856,EXAC_NFE_AF,ALMS1
440553,2:73613297:G>A,NM_015120.4:c.301G>A,NP_055935.4:p.Gly102Ser,1/23,\N,Likely benign,\N,missense_variant,0.224,0.000168294,EXAC_NFE_AF,ALMS1
440554,2:73613299:C>T,NM_015120.4:c.303C>T,NP_055935.4:p.Gly102=,1/23,\N,Unknown significance,\N,synonymous_variant,14.98,0.001,1KG_EUR_AF,ALMS1
440555,2:73613306:A>G,NM_015120.4:c.310A>G,NP_055935.4:p.Thr105Ala,1/23,\N,Likely benign,\N,missense_variant,0.005,0.000196541,EXAC_NFE_AF,ALMS1
440556,2:73613311:C>T,NM_015120.4:c.315C>T,NP_055935.4:p.Ser106=,1/23,\N,Unknown significance,\N,synonymous_variant,10.26,0.000407997,EXAC_NFE_AF,ALMS1
440557,2:73613330:G>C,NM_015120.4:c.324+10G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.547,0.000200965,EXAC_SAS_AF,ALMS1
440558,2:73613337:A>G,NM_015120.4:c.324+17A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.574,\N,\N,ALMS1
440559,2:73613341:G>A,NM_015120.4:c.324+21G>A,\N,\N,1/22,Benign,\N,intron_variant,8.891,0.6,EXAC_FIN_AF,ALMS1
440560,2:73613341:G>T,NM_015120.4:c.324+21G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.861,0.000331345,EXAC_NFE_AF,ALMS1
440561,2:73613350:C>T,NM_015120.4:c.324+30C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.21,\N,\N,ALMS1
440562,2:73613351:G>A,NM_015120.4:c.324+31G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.796,0.000511771,EXAC_NFE_AF,ALMS1
440563,2:73613377:C>T,NM_015120.4:c.324+57C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.283,0.002,1KG_EAS_AF,ALMS1
440564,2:73613383:G>A,NM_015120.4:c.324+63G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.146,0.0014,1KG_AMR_AF,ALMS1
440565,2:73613384:C>A,NM_015120.4:c.324+64C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.76,0.0023,1KG_AFR_AF,ALMS1
440566,2:73613400:AG>A,NM_015120.4:c.324+82del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440567,2:73613411:C>T,NM_015120.4:c.324+91C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.061,0.0008,1KG_AFR_AF,ALMS1
440568,2:73613418:G>T,NM_015120.4:c.324+98G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.056,0.0008,1KG_AFR_AF,ALMS1
440569,2:73613426:G>A,NM_015120.4:c.324+106G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.822,0.0043,1KG_AMR_AF,ALMS1
440570,2:73613495:A>G,NM_015120.4:c.324+175A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.956,\N,\N,ALMS1
440571,2:73613532:G>A,NM_015120.4:c.324+212G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.14,0.0014,1KG_AMR_AF,ALMS1
440572,2:73613557:C>T,NM_015120.4:c.324+237C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.984,\N,\N,ALMS1
440573,2:73613558:C>G,NM_015120.4:c.324+238C>G,\N,\N,1/22,Benign,\N,intron_variant,7.38,0.5023,1KG_AFR_AF,ALMS1
440574,2:73613568:C>G,NM_015120.4:c.324+248C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.175,\N,\N,ALMS1
440575,2:73613686:T>C,NM_015120.4:c.324+366T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.045,\N,\N,ALMS1
440576,2:73613695:C>G,NM_015120.4:c.324+375C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.444,\N,\N,ALMS1
440577,2:73613706:T>C,NM_015120.4:c.324+386T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.627,0.0008,1KG_AFR_AF,ALMS1
440578,2:73613742:T>C,NM_015120.4:c.324+422T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.756,0.0023,1KG_AFR_AF,ALMS1
440579,2:73613743:A>C,NM_015120.4:c.324+423A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5,\N,\N,ALMS1
440580,2:73613754:T>C,NM_015120.4:c.324+434T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.738,\N,\N,ALMS1
440581,2:73613788:C>T,NM_015120.4:c.324+468C>T,\N,\N,1/22,Benign,\N,intron_variant,8.997,0.0484,1KG_AFR_AF,ALMS1
440582,2:73613788:CC>TG,NM_015120.4:c.324+468_324+469delinsTG,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440583,2:73613789:C>G,NM_015120.4:c.324+469C>G,\N,\N,1/22,Benign,\N,intron_variant,7.32,0.4924,1KG_AFR_AF,ALMS1
440584,2:73613807:CT>C,NM_015120.4:c.324+488del,\N,\N,1/22,Unknown significance,\N,intron_variant,6.187,\N,\N,ALMS1
440585,2:73613846:G>T,NM_015120.4:c.324+526G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.543,\N,\N,ALMS1
440586,2:73613867:A>C,NM_015120.4:c.324+547A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.068,\N,\N,ALMS1
440587,2:73613917:A>G,NM_015120.4:c.324+597A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.9,\N,\N,ALMS1
440588,2:73613959:A>G,NM_015120.4:c.324+639A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.052,\N,\N,ALMS1
440589,2:73613982:C>G,NM_015120.4:c.324+662C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.858,\N,\N,ALMS1
440590,2:73613984:A>G,NM_015120.4:c.324+664A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.556,\N,\N,ALMS1
440591,2:73614024:G>A,NM_015120.4:c.324+704G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.389,0.0008,1KG_AFR_AF,ALMS1
440592,2:73614075:G>T,NM_015120.4:c.324+755G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.066,0.001,1KG_EAS_AF,ALMS1
440593,2:73614089:A>G,NM_015120.4:c.324+769A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.903,\N,\N,ALMS1
440594,2:73614103:A>G,NM_015120.4:c.324+783A>G,\N,\N,1/22,Benign,\N,intron_variant,7.545,0.0234,1KG_AFR_AF,ALMS1
440595,2:73614152:C>T,NM_015120.4:c.324+832C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.291,\N,\N,ALMS1
440596,2:73614184:C>T,NM_015120.4:c.324+864C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.234,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ALMS1
440597,2:73614227:G>C,NM_015120.4:c.324+907G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.849,\N,\N,ALMS1
440598,2:73614234:G>A,NM_015120.4:c.324+914G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,16.1,0.0008,1KG_AFR_AF,ALMS1
440599,2:73614256:A>G,NM_015120.4:c.324+936A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.524,0.0008,1KG_AFR_AF,ALMS1
440600,2:73614268:G>C,NM_015120.4:c.324+948G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.732,\N,\N,ALMS1
440601,2:73614301:T>A,NM_015120.4:c.324+981T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,12.58,\N,\N,ALMS1
440602,2:73614316:T>TC,NM_015120.4:c.324+998dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440603,2:73614318:C>T,NM_015120.4:c.324+998C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.133,0.0008,1KG_AFR_AF,ALMS1
440604,2:73614324:G>T,NM_015120.4:c.324+1004G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.874,0.0008,1KG_AFR_AF,ALMS1
440605,2:73614327:C>T,NM_015120.4:c.324+1007C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.442,0.001,1KG_SAS_AF,ALMS1
440606,2:73614347:T>G,NM_015120.4:c.324+1027T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.196,\N,\N,ALMS1
440607,2:73614351:T>G,NM_015120.4:c.324+1031T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.381,\N,\N,ALMS1
440608,2:73614394:A>G,NM_015120.4:c.324+1074A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.487,0.001,1KG_SAS_AF,ALMS1
440609,2:73614407:C>G,NM_015120.4:c.324+1087C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.138,0.0015,1KG_AFR_AF,ALMS1
440610,2:73614408:A>C,NM_015120.4:c.324+1088A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.712,0.002,1KG_EAS_AF,ALMS1
440611,2:73614434:G>A,NM_015120.4:c.324+1114G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.817,\N,\N,ALMS1
440612,2:73614471:G>A,NM_015120.4:c.324+1151G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.69,0.001,1KG_EAS_AF,ALMS1
440613,2:73614528:A>G,NM_015120.4:c.324+1208A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.285,0.001,1KG_EUR_AF,ALMS1
440614,2:73614530:G>A,NM_015120.4:c.324+1210G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.832,0.002,1KG_EAS_AF,ALMS1
440615,2:73614536:C>T,NM_015120.4:c.324+1216C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.408,\N,\N,ALMS1
440616,2:73614548:G>A,NM_015120.4:c.324+1228G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.636,0.002,1KG_EUR_AF,ALMS1
440617,2:73614562:G>A,NM_015120.4:c.324+1242G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.27,\N,\N,ALMS1
440618,2:73614576:G>A,NM_015120.4:c.324+1256G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.984,0.001,1KG_SAS_AF,ALMS1
440619,2:73614591:A>G,NM_015120.4:c.324+1271A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.153,\N,\N,ALMS1
440620,2:73614594:T>C,NM_015120.4:c.324+1274T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.992,\N,\N,ALMS1
440621,2:73614602:C>CAGTT,NM_015120.4:c.324+1283_324+1286dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440622,2:73614620:G>A,NM_015120.4:c.324+1300G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.653,0.0038,1KG_AFR_AF,ALMS1
440623,2:73614662:A>G,NM_015120.4:c.324+1342A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.312,\N,\N,ALMS1
440624,2:73614670:G>C,NM_015120.4:c.324+1350G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.685,0.001,1KG_EUR_AF,ALMS1
440625,2:73614676:T>C,NM_015120.4:c.324+1356T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.019,\N,\N,ALMS1
440626,2:73614719:C>G,NM_015120.4:c.324+1399C>G,\N,\N,1/22,Benign,\N,intron_variant,0.778,0.0461,1KG_AFR_AF,ALMS1
440627,2:73614755:A>G,NM_015120.4:c.324+1435A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,15.14,\N,\N,ALMS1
440628,2:73614787:C>A,NM_015120.4:c.324+1467C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.644,\N,\N,ALMS1
440629,2:73614814:A>T,NM_015120.4:c.324+1494A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.547,\N,\N,ALMS1
440630,2:73614822:G>T,NM_015120.4:c.324+1502G>T,\N,\N,1/22,Benign,\N,intron_variant,0.204,0.0439,1KG_AFR_AF,ALMS1
440631,2:73614830:ATAAGT>A,NM_015120.4:c.324+1513_324+1517del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440632,2:73614902:G>T,NM_015120.4:c.324+1582G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.597,0.002,1KG_SAS_AF,ALMS1
440633,2:73614915:T>C,NM_015120.4:c.324+1595T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.342,\N,\N,ALMS1
440634,2:73614922:A>G,NM_015120.4:c.324+1602A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.929,0.001,1KG_SAS_AF,ALMS1
440635,2:73614926:C>T,NM_015120.4:c.324+1606C>T,\N,\N,1/22,Benign,\N,intron_variant,3.067,0.122,1KG_EAS_AF,ALMS1
440636,2:73614974:G>GT,NM_015120.4:c.324+1657dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440637,2:73615005:G>A,NM_015120.4:c.324+1685G>A,\N,\N,1/22,Benign,\N,intron_variant,16.27,0.0681,1KG_AFR_AF,ALMS1
440638,2:73615006:G>GGA,NM_015120.4:c.324+1686_324+1687insGA,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440639,2:73615048:T>G,NM_015120.4:c.324+1728T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.588,\N,\N,ALMS1
440640,2:73615061:C>A,NM_015120.4:c.324+1741C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.591,\N,\N,ALMS1
440641,2:73615069:A>G,NM_015120.4:c.324+1749A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.748,0.0015,1KG_AFR_AF,ALMS1
440642,2:73615073:G>C,NM_015120.4:c.324+1753G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.911,0.001,1KG_EAS_AF,ALMS1
440643,2:73615113:G>A,NM_015120.4:c.324+1793G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.97,\N,\N,ALMS1
440644,2:73615131:T>TA,NM_015120.4:c.324+1812dup,\N,\N,1/22,Benign,\N,intron_variant,1.935,0.0696,1KG_AFR_AF,ALMS1
440645,2:73615156:G>A,NM_015120.4:c.324+1836G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.962,0.001,1KG_EUR_AF,ALMS1
440646,2:73615187:G>A,NM_015120.4:c.324+1867G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.926,0.0008,1KG_AFR_AF,ALMS1
440647,2:73615191:G>A,NM_015120.4:c.324+1871G>A,\N,\N,1/22,Benign,\N,intron_variant,4.078,0.2549,1KG_AFR_AF,ALMS1
440648,2:73615201:T>G,NM_015120.4:c.324+1881T>G,\N,\N,1/22,Benign,\N,intron_variant,10.31,0.0212,1KG_AFR_AF,ALMS1
440649,2:73615206:G>A,NM_015120.4:c.324+1886G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.462,0.0015,1KG_AFR_AF,ALMS1
440650,2:73615211:GT>G,NM_015120.4:c.324+1895del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440651,2:73615238:G>C,NM_015120.4:c.324+1918G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.203,\N,\N,ALMS1
440652,2:73615248:T>G,NM_015120.4:c.324+1928T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.795,\N,\N,ALMS1
440653,2:73615268:A>G,NM_015120.4:c.324+1948A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.607,0.001,1KG_SAS_AF,ALMS1
440654,2:73615291:A>G,NM_015120.4:c.324+1971A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.818,\N,\N,ALMS1
440655,2:73615318:A>G,NM_015120.4:c.324+1998A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.26,\N,\N,ALMS1
440656,2:73615362:A>C,NM_015120.4:c.324+2042A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.656,\N,\N,ALMS1
440657,2:73615398:C>T,NM_015120.4:c.324+2078C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.379,\N,\N,ALMS1
440658,2:73615439:C>T,NM_015120.4:c.324+2119C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.409,\N,\N,ALMS1
440659,2:73615449:A>G,NM_015120.4:c.324+2129A>G,\N,\N,1/22,Benign,\N,intron_variant,0.389,0.1744,1KG_AMR_AF,ALMS1
440660,2:73615472:G>A,NM_015120.4:c.324+2152G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.907,\N,\N,ALMS1
440661,2:73615473:G>T,NM_015120.4:c.324+2153G>T,\N,\N,1/22,Benign,\N,intron_variant,0.088,0.0083,1KG_AFR_AF,ALMS1
440662,2:73615505:A>T,NM_015120.4:c.324+2185A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.706,0.0043,1KG_AMR_AF,ALMS1
440663,2:73615526:G>A,NM_015120.4:c.324+2206G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.085,\N,\N,ALMS1
440664,2:73615546:G>A,NM_015120.4:c.324+2226G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.279,\N,\N,ALMS1
440665,2:73615602:C>T,NM_015120.4:c.324+2282C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,11.62,\N,\N,ALMS1
440666,2:73615605:C>T,NM_015120.4:c.324+2285C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,12.05,0.001,1KG_EAS_AF,ALMS1
440667,2:73615621:A>G,NM_015120.4:c.324+2301A>G,\N,\N,1/22,Benign,\N,intron_variant,9.979,0.134,1KG_AMR_AF,ALMS1
440668,2:73615641:T>C,NM_015120.4:c.324+2321T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.391,0.001,1KG_EAS_AF,ALMS1
440669,2:73615661:T>C,NM_015120.4:c.324+2341T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.797,\N,\N,ALMS1
440670,2:73615667:C>T,NM_015120.4:c.324+2347C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.599,0.001,1KG_SAS_AF,ALMS1
440671,2:73615689:C>A,NM_015120.4:c.324+2369C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.809,\N,\N,ALMS1
440672,2:73615717:A>G,NM_015120.4:c.324+2397A>G,\N,\N,1/22,Benign,\N,intron_variant,6.212,0.0308,1KG_EUR_AF,ALMS1
440673,2:73615745:G>C,NM_015120.4:c.324+2425G>C,\N,\N,1/22,Benign,\N,intron_variant,0.084,0.0109,1KG_EUR_AF,ALMS1
440674,2:73615752:C>G,NM_015120.4:c.324+2432C>G,\N,\N,1/22,Benign,\N,intron_variant,0.899,0.0308,1KG_EUR_AF,ALMS1
440675,2:73615815:A>G,NM_015120.4:c.324+2495A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.454,\N,\N,ALMS1
440676,2:73615821:A>G,NM_015120.4:c.324+2501A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.433,0.0029,1KG_AMR_AF,ALMS1
440677,2:73615859:A>T,NM_015120.4:c.324+2539A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,14.64,0.001,1KG_EUR_AF,ALMS1
440678,2:73615895:C>T,NM_015120.4:c.324+2575C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.771,\N,\N,ALMS1
440679,2:73615931:C>CT,NM_015120.4:c.324+2620dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440680,2:73615947:G>A,NM_015120.4:c.324+2627G>A,\N,\N,1/22,Benign,\N,intron_variant,1.46,0.0061,1KG_AFR_AF,ALMS1
440681,2:73615965:A>G,NM_015120.4:c.324+2645A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.55,0.001,1KG_SAS_AF,ALMS1
440682,2:73616022:G>C,NM_015120.4:c.324+2702G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.037,0.0031,1KG_SAS_AF,ALMS1
440683,2:73616042:G>C,NM_015120.4:c.324+2722G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.93,\N,\N,ALMS1
440684,2:73616057:A>C,NM_015120.4:c.324+2737A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.86,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
440685,2:73616109:A>G,NM_015120.4:c.324+2789A>G,\N,\N,1/22,Benign,\N,intron_variant,1.535,0.1384,1KG_AFR_AF,ALMS1
440686,2:73616146:A>G,NM_015120.4:c.324+2826A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.259,0.001,1KG_EAS_AF,ALMS1
440687,2:73616151:G>A,NM_015120.4:c.324+2831G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.45,\N,\N,ALMS1
440688,2:73616174:T>A,NM_015120.4:c.324+2854T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.471,\N,\N,ALMS1
440689,2:73616177:C>T,NM_015120.4:c.324+2857C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.251,\N,\N,ALMS1
440690,2:73616185:A>G,NM_015120.4:c.324+2865A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.409,\N,\N,ALMS1
440691,2:73616199:G>A,NM_015120.4:c.324+2879G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.061,\N,\N,ALMS1
440692,2:73616220:C>T,NM_015120.4:c.324+2900C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.492,\N,\N,ALMS1
440693,2:73616281:T>A,NM_015120.4:c.324+2961T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,14.72,0.001,1KG_EAS_AF,ALMS1
440694,2:73616317:T>C,NM_015120.4:c.324+2997T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,12.1,0.001,1KG_EUR_AF,ALMS1
440695,2:73616350:C>T,NM_015120.4:c.324+3030C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.714,0.001,1KG_EAS_AF|1KG_EUR_AF,ALMS1
440696,2:73616351:C>T,NM_015120.4:c.324+3031C>T,\N,\N,1/22,Benign,\N,intron_variant,0.018,0.0109,1KG_EAS_AF,ALMS1
440697,2:73616394:C>A,NM_015120.4:c.324+3074C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.795,0.001,1KG_EUR_AF,ALMS1
440698,2:73616396:C>A,NM_015120.4:c.324+3076C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.091,0.0038,1KG_AFR_AF,ALMS1
440699,2:73616396:C>T,NM_015120.4:c.324+3076C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.094,\N,\N,ALMS1
440700,2:73616397:G>T,NM_015120.4:c.324+3077G>T,\N,\N,1/22,Benign,\N,intron_variant,0.583,0.006,1KG_EUR_AF,ALMS1
440701,2:73616410:GTTAT>G,NM_015120.4:c.324+3093_324+3096del,\N,\N,1/22,Unknown significance,\N,intron_variant,4.758,\N,\N,ALMS1
440702,2:73616451:A>G,NM_015120.4:c.324+3131A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.97,\N,\N,ALMS1
440703,2:73616541:T>C,NM_015120.4:c.324+3221T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.678,\N,\N,ALMS1
440704,2:73616553:G>T,NM_015120.4:c.324+3233G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.897,\N,\N,ALMS1
440705,2:73616591:G>A,NM_015120.4:c.324+3271G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.947,\N,\N,ALMS1
440706,2:73616652:C>A,NM_015120.4:c.324+3332C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.849,\N,\N,ALMS1
440707,2:73616672:C>T,NM_015120.4:c.324+3352C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.097,0.0014,1KG_AMR_AF,ALMS1
440708,2:73616675:G>C,NM_015120.4:c.324+3355G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.345,0.002,1KG_EUR_AF,ALMS1
440709,2:73616682:A>G,NM_015120.4:c.324+3362A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.903,\N,\N,ALMS1
440710,2:73616695:A>C,NM_015120.4:c.324+3375A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.72,0.001,1KG_SAS_AF,ALMS1
440711,2:73616698:T>C,NM_015120.4:c.324+3378T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,10.43,0.0008,1KG_AFR_AF,ALMS1
440712,2:73616760:A>T,NM_015120.4:c.324+3440A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.118,0.001,1KG_EUR_AF,ALMS1
440713,2:73616780:A>C,NM_015120.4:c.324+3460A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.943,0.001,1KG_SAS_AF,ALMS1
440714,2:73616797:T>A,NM_015120.4:c.324+3477T>A,\N,\N,1/22,Benign,\N,intron_variant,5.703,0.1384,1KG_AFR_AF,ALMS1
440715,2:73616823:T>C,NM_015120.4:c.324+3503T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.371,\N,\N,ALMS1
440716,2:73616835:C>T,NM_015120.4:c.324+3515C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.762,\N,\N,ALMS1
440717,2:73616836:G>A,NM_015120.4:c.324+3516G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.457,0.0015,1KG_AFR_AF,ALMS1
440718,2:73616838:G>C,NM_015120.4:c.324+3518G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.101,\N,\N,ALMS1
440719,2:73616857:G>T,NM_015120.4:c.324+3537G>T,\N,\N,1/22,Benign,\N,intron_variant,0.048,0.1377,1KG_AFR_AF,ALMS1
440720,2:73616870:T>G,NM_015120.4:c.324+3550T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.172,0.001,1KG_SAS_AF,ALMS1
440721,2:73616880:C>T,NM_015120.4:c.324+3560C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.145,\N,\N,ALMS1
440722,2:73616900:C>T,NM_015120.4:c.324+3580C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.211,\N,\N,ALMS1
440723,2:73616942:C>T,NM_015120.4:c.324+3622C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.213,\N,\N,ALMS1
440724,2:73616966:C>T,NM_015120.4:c.324+3646C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.026,\N,\N,ALMS1
440725,2:73616974:C>T,NM_015120.4:c.324+3654C>T,\N,\N,1/22,Benign,\N,intron_variant,0.03,0.0051,1KG_SAS_AF,ALMS1
440726,2:73616975:G>A,NM_015120.4:c.324+3655G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.667,0.0015,1KG_AFR_AF,ALMS1
440727,2:73617026:C>T,NM_015120.4:c.324+3706C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.16,0.001,1KG_EAS_AF,ALMS1
440728,2:73617079:T>G,NM_015120.4:c.324+3759T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.894,0.003,1KG_AFR_AF,ALMS1
440729,2:73617106:C>T,NM_015120.4:c.324+3786C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.456,0.0029,1KG_AMR_AF,ALMS1
440730,2:73617111:G>A,NM_015120.4:c.324+3791G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.071,0.0008,1KG_AFR_AF,ALMS1
440731,2:73617122:G>C,NM_015120.4:c.324+3802G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.211,0.0008,1KG_AFR_AF,ALMS1
440732,2:73617127:C>T,NM_015120.4:c.324+3807C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.66,0.001,1KG_SAS_AF,ALMS1
440733,2:73617156:C>T,NM_015120.4:c.324+3836C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.929,\N,\N,ALMS1
440734,2:73617195:C>T,NM_015120.4:c.324+3875C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.227,0.0031,1KG_SAS_AF,ALMS1
440735,2:73617232:C>T,NM_015120.4:c.324+3912C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.742,\N,\N,ALMS1
440736,2:73617240:A>T,NM_015120.4:c.324+3920A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.289,0.001,1KG_EUR_AF,ALMS1
440737,2:73617248:TAATATATAG>T,NM_015120.4:c.324+3939_324+3947del,\N,\N,1/22,Unknown significance,\N,intron_variant,6.996,0.0023,1KG_AFR_AF,ALMS1
440738,2:73617275:C>T,NM_015120.4:c.324+3955C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.438,\N,\N,ALMS1
440739,2:73617317:A>G,NM_015120.4:c.324+3997A>G,\N,\N,1/22,Benign,\N,intron_variant,1.093,0.0061,1KG_AFR_AF,ALMS1
440740,2:73617345:T>C,NM_015120.4:c.324+4025T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,13.31,0.001,1KG_EUR_AF,ALMS1
440741,2:73617370:A>C,NM_015120.4:c.324+4050A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,13.98,\N,\N,ALMS1
440742,2:73617404:T>G,NM_015120.4:c.324+4084T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,18.05,\N,\N,ALMS1
440743,2:73617409:G>A,NM_015120.4:c.324+4089G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,17.04,0.001,1KG_EUR_AF,ALMS1
440744,2:73617412:A>T,NM_015120.4:c.324+4092A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,14.22,0.003,1KG_EAS_AF,ALMS1
440745,2:73617461:C>T,NM_015120.4:c.324+4141C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.599,\N,\N,ALMS1
440746,2:73617480:CA>C,NM_015120.4:c.324+4163del,\N,\N,1/22,Unknown significance,\N,intron_variant,14.63,\N,\N,ALMS1
440747,2:73617558:T>C,NM_015120.4:c.324+4238T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.239,0.0008,1KG_AFR_AF,ALMS1
440748,2:73617569:A>G,NM_015120.4:c.324+4249A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.591,\N,\N,ALMS1
440749,2:73617647:T>C,NM_015120.4:c.324+4327T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.728,0.0031,1KG_SAS_AF,ALMS1
440750,2:73617694:G>A,NM_015120.4:c.324+4374G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.325,\N,\N,ALMS1
440751,2:73617695:T>G,NM_015120.4:c.324+4375T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.059,\N,\N,ALMS1
440752,2:73617707:G>A,NM_015120.4:c.324+4387G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.264,0.0008,1KG_AFR_AF,ALMS1
440753,2:73617730:A>G,NM_015120.4:c.324+4410A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.632,0.001,1KG_EAS_AF,ALMS1
440754,2:73617746:G>T,NM_015120.4:c.324+4426G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.607,0.0029,1KG_AMR_AF,ALMS1
440755,2:73617755:G>T,NM_015120.4:c.324+4435G>T,\N,\N,1/22,Benign,\N,intron_variant,3.68,0.0123,1KG_SAS_AF,ALMS1
440756,2:73617765:G>A,NM_015120.4:c.324+4445G>A,\N,\N,1/22,Benign,\N,intron_variant,7.304,0.1377,1KG_AFR_AF,ALMS1
440757,2:73617786:C>T,NM_015120.4:c.324+4466C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.473,0.002,1KG_EAS_AF,ALMS1
440758,2:73617832:T>C,NM_015120.4:c.324+4512T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.732,0.001,1KG_EAS_AF,ALMS1
440759,2:73617908:C>T,NM_015120.4:c.324+4588C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.503,\N,\N,ALMS1
440760,2:73617922:GTCTC>G,NM_015120.4:c.324+4605_324+4608del,\N,\N,1/22,Benign,\N,intron_variant,2.765,0.0696,1KG_AFR_AF,ALMS1
440761,2:73617939:C>A,NM_015120.4:c.324+4619C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.309,\N,\N,ALMS1
440762,2:73617962:G>A,NM_015120.4:c.324+4642G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.069,0.001,1KG_EUR_AF,ALMS1
440763,2:73617972:A>G,NM_015120.4:c.324+4652A>G,\N,\N,1/22,Benign,\N,intron_variant,0.715,0.006,1KG_EUR_AF,ALMS1
440764,2:73617981:C>T,NM_015120.4:c.324+4661C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.381,\N,\N,ALMS1
440765,2:73617984:C>T,NM_015120.4:c.324+4664C>T,\N,\N,1/22,Benign,\N,intron_variant,1.924,0.0308,1KG_EUR_AF,ALMS1
440766,2:73617985:G>A,NM_015120.4:c.324+4665G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.59,0.001,1KG_EUR_AF,ALMS1
440767,2:73618046:G>A,NM_015120.4:c.324+4726G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.622,\N,\N,ALMS1
440768,2:73618086:A>G,NM_015120.4:c.324+4766A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.568,\N,\N,ALMS1
440769,2:73618095:C>A,NM_015120.4:c.324+4775C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.081,\N,\N,ALMS1
440770,2:73618099:A>G,NM_015120.4:c.324+4779A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.227,0.0008,1KG_AFR_AF,ALMS1
440771,2:73618121:T>A,NM_015120.4:c.324+4801T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.434,0.001,1KG_SAS_AF,ALMS1
440772,2:73618124:C>A,NM_015120.4:c.324+4804C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.447,0.001,1KG_SAS_AF,ALMS1
440773,2:73618130:C>T,NM_015120.4:c.324+4810C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.692,0.0008,1KG_AFR_AF,ALMS1
440774,2:73618133:A>G,NM_015120.4:c.324+4813A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.738,0.0008,1KG_AFR_AF,ALMS1
440775,2:73618135:G>A,NM_015120.4:c.324+4815G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.672,\N,\N,ALMS1
440776,2:73618145:C>T,NM_015120.4:c.324+4825C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.226,0.001,1KG_SAS_AF,ALMS1
440777,2:73618153:C>T,NM_015120.4:c.324+4833C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.201,\N,\N,ALMS1
440778,2:73618158:C>T,NM_015120.4:c.324+4838C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.161,0.0014,1KG_AMR_AF,ALMS1
440779,2:73618190:C>T,NM_015120.4:c.324+4870C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.254,\N,\N,ALMS1
440780,2:73618193:C>T,NM_015120.4:c.324+4873C>T,\N,\N,1/22,Benign,\N,intron_variant,0.859,0.0109,1KG_EAS_AF,ALMS1
440781,2:73618197:C>T,NM_015120.4:c.324+4877C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.575,0.001,1KG_EUR_AF,ALMS1
440782,2:73618198:G>A,NM_015120.4:c.324+4878G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.06,\N,\N,ALMS1
440783,2:73618204:A>G,NM_015120.4:c.324+4884A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.712,0.0045,1KG_AFR_AF,ALMS1
440784,2:73618206:A>G,NM_015120.4:c.324+4886A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.499,0.0008,1KG_AFR_AF,ALMS1
440785,2:73618231:C>T,NM_015120.4:c.324+4911C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,14.28,0.001,1KG_EAS_AF,ALMS1
440786,2:73618232:T>C,NM_015120.4:c.324+4912T>C,\N,\N,1/22,Benign,\N,intron_variant,13.84,0.0197,1KG_AFR_AF,ALMS1
440787,2:73618242:T>G,NM_015120.4:c.324+4922T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,14.29,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
440788,2:73618260:C>G,NM_015120.4:c.324+4940C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.398,\N,\N,ALMS1
440789,2:73618282:G>C,NM_015120.4:c.324+4962G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.459,0.002,1KG_EUR_AF,ALMS1
440790,2:73618304:C>G,NM_015120.4:c.324+4984C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.887,\N,\N,ALMS1
440791,2:73618308:T>G,NM_015120.4:c.324+4988T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.802,\N,\N,ALMS1
440792,2:73618330:A>G,NM_015120.4:c.324+5010A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.681,0.001,1KG_EUR_AF,ALMS1
440793,2:73618360:C>T,NM_015120.4:c.324+5040C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.816,\N,\N,ALMS1
440794,2:73618387:A>G,NM_015120.4:c.324+5067A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.739,0.0008,1KG_AFR_AF,ALMS1
440795,2:73618413:C>T,NM_015120.4:c.324+5093C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.369,0.0031,1KG_SAS_AF,ALMS1
440796,2:73618422:C>CTTTTTTTTT,NM_015120.4:c.324+5111_324+5119dup,\N,\N,1/22,Unknown significance,\N,intron_variant,2.072,\N,\N,ALMS1
440797,2:73618422:C>T,NM_015120.4:c.324+5102C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.109,\N,\N,ALMS1
440798,2:73618438:T>G,NM_015120.4:c.324+5118T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.145,\N,\N,ALMS1
440799,2:73618452:C>T,NM_015120.4:c.324+5132C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.643,\N,\N,ALMS1
440800,2:73618486:A>G,NM_015120.4:c.324+5166A>G,\N,\N,1/22,Benign,\N,intron_variant,0.769,0.0681,1KG_AFR_AF,ALMS1
440801,2:73618546:C>T,NM_015120.4:c.324+5226C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.518,0.001,1KG_SAS_AF,ALMS1
440802,2:73618548:A>C,NM_015120.4:c.324+5228A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.869,0.001,1KG_SAS_AF,ALMS1
440803,2:73618552:G>A,NM_015120.4:c.324+5232G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.899,\N,\N,ALMS1
440804,2:73618555:G>A,NM_015120.4:c.324+5235G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.907,0.003,1KG_EUR_AF,ALMS1
440805,2:73618566:C>T,NM_015120.4:c.324+5246C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.213,0.001,1KG_EAS_AF,ALMS1
440806,2:73618570:C>T,NM_015120.4:c.324+5250C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.972,0.0014,1KG_AMR_AF,ALMS1
440807,2:73618578:C>T,NM_015120.4:c.324+5258C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.211,0.001,1KG_EUR_AF,ALMS1
440808,2:73618583:G>A,NM_015120.4:c.324+5263G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.44,\N,\N,ALMS1
440809,2:73618584:G>A,NM_015120.4:c.324+5264G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.838,\N,\N,ALMS1
440810,2:73618623:G>A,NM_015120.4:c.324+5303G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.094,\N,\N,ALMS1
440811,2:73618656:C>T,NM_015120.4:c.324+5336C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.168,0.0008,1KG_AFR_AF,ALMS1
440812,2:73618659:GAT>G,NM_015120.4:c.324+5341_324+5342del,\N,\N,1/22,Unknown significance,\N,intron_variant,2.034,0.004,1KG_EAS_AF,ALMS1
440813,2:73618666:C>T,NM_015120.4:c.324+5346C>T,\N,\N,1/22,Benign,\N,intron_variant,2.653,0.0228,1KG_EAS_AF,ALMS1
440814,2:73618667:C>T,NM_015120.4:c.324+5347C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.549,\N,\N,ALMS1
440815,2:73618700:C>T,NM_015120.4:c.324+5380C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.815,0.0045,1KG_AFR_AF,ALMS1
440816,2:73618730:T>C,NM_015120.4:c.324+5410T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.358,\N,\N,ALMS1
440817,2:73618752:G>C,NM_015120.4:c.324+5432G>C,\N,\N,1/22,Benign,\N,intron_variant,1.626,0.0454,1KG_AFR_AF,ALMS1
440818,2:73618756:T>G,NM_015120.4:c.324+5436T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.413,0.001,1KG_SAS_AF,ALMS1
440819,2:73618784:C>T,NM_015120.4:c.324+5464C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.923,\N,\N,ALMS1
440820,2:73618806:G>A,NM_015120.4:c.324+5486G>A,\N,\N,1/22,Benign,\N,intron_variant,0.921,0.0454,1KG_AFR_AF,ALMS1
440821,2:73618857:CTGTT>C,NM_015120.4:c.324+5543_324+5546del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440822,2:73618887:T>C,NM_015120.4:c.324+5567T>C,\N,\N,1/22,Benign,\N,intron_variant,12.42,0.008,1KG_EUR_AF,ALMS1
440823,2:73618893:A>G,NM_015120.4:c.324+5573A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,11.59,0.002,1KG_EAS_AF,ALMS1
440824,2:73618905:A>G,NM_015120.4:c.324+5585A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12,0.001,1KG_SAS_AF,ALMS1
440825,2:73618910:A>G,NM_015120.4:c.324+5590A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.76,0.001,1KG_EAS_AF,ALMS1
440826,2:73618921:A>G,NM_015120.4:c.324+5601A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,11.39,0.0008,1KG_AFR_AF,ALMS1
440827,2:73618997:A>G,NM_015120.4:c.324+5677A>G,\N,\N,1/22,Benign,\N,intron_variant,10.89,0.1383,1KG_AMR_AF,ALMS1
440828,2:73619006:A>G,NM_015120.4:c.324+5686A>G,\N,\N,1/22,Benign,\N,intron_variant,5.219,0.0681,1KG_AFR_AF,ALMS1
440829,2:73619048:A>G,NM_015120.4:c.324+5728A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.505,0.0015,1KG_AFR_AF,ALMS1
440830,2:73619059:C>A,NM_015120.4:c.324+5739C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.809,\N,\N,ALMS1
440831,2:73619110:A>G,NM_015120.4:c.324+5790A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.114,0.0014,1KG_AMR_AF,ALMS1
440832,2:73619168:C>T,NM_015120.4:c.324+5848C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.834,0.001,1KG_EUR_AF,ALMS1
440833,2:73619193:T>G,NM_015120.4:c.324+5873T>G,\N,\N,1/22,Benign,\N,intron_variant,10.02,0.0711,1KG_AFR_AF,ALMS1
440834,2:73619194:T>A,NM_015120.4:c.324+5874T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,13.26,\N,\N,ALMS1
440835,2:73619225:C>T,NM_015120.4:c.324+5905C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,14.45,0.0008,1KG_AFR_AF,ALMS1
440836,2:73619237:C>G,NM_015120.4:c.324+5917C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,11.26,\N,\N,ALMS1
440837,2:73619277:A>G,NM_015120.4:c.324+5957A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.794,\N,\N,ALMS1
440838,2:73619277:A>T,NM_015120.4:c.324+5957A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.421,\N,\N,ALMS1
440839,2:73619330:A>G,NM_015120.4:c.324+6010A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.476,\N,\N,ALMS1
440840,2:73619388:ATG>A,NM_015120.4:c.324+6104_324+6105del,\N,\N,1/22,Unknown significance,\N,intron_variant,0.191,\N,\N,ALMS1
440841,2:73619388:ATGTG>A,NM_015120.4:c.324+6102_324+6105del,\N,\N,1/22,Unknown significance,\N,intron_variant,0.896,\N,\N,ALMS1
440842,2:73619388:ATGTGTG>A,NM_015120.4:c.324+6100_324+6105del,\N,\N,1/22,Unknown significance,\N,intron_variant,2.048,\N,\N,ALMS1
440843,2:73619392:G>A,NM_015120.4:c.324+6072G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.408,\N,\N,ALMS1
440844,2:73619422:G>A,NM_015120.4:c.324+6102G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.673,\N,\N,ALMS1
440845,2:73619463:A>G,NM_015120.4:c.324+6143A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.805,0.001,1KG_EAS_AF,ALMS1
440846,2:73619474:A>G,NM_015120.4:c.324+6154A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.521,0.001,1KG_EUR_AF,ALMS1
440847,2:73619513:C>T,NM_015120.4:c.324+6193C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.912,\N,\N,ALMS1
440848,2:73619523:A>T,NM_015120.4:c.324+6203A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.328,0.0008,1KG_AFR_AF,ALMS1
440849,2:73619540:A>G,NM_015120.4:c.324+6220A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.429,\N,\N,ALMS1
440850,2:73619549:A>G,NM_015120.4:c.324+6229A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.829,0.0008,1KG_AFR_AF,ALMS1
440851,2:73619623:C>T,NM_015120.4:c.324+6303C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.78,\N,\N,ALMS1
440852,2:73619642:C>T,NM_015120.4:c.324+6322C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.073,\N,\N,ALMS1
440853,2:73619643:G>A,NM_015120.4:c.324+6323G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.222,\N,\N,ALMS1
440854,2:73619711:C>T,NM_015120.4:c.324+6391C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.352,\N,\N,ALMS1
440855,2:73619773:A>G,NM_015120.4:c.324+6453A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,14.34,\N,\N,ALMS1
440856,2:73619774:G>A,NM_015120.4:c.324+6454G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,14.57,\N,\N,ALMS1
440857,2:73619854:TA>T,NM_015120.4:c.324+6535del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440858,2:73619876:G>C,NM_015120.4:c.324+6556G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.84,\N,\N,ALMS1
440859,2:73619888:GT>G,NM_015120.4:c.324+6576del,\N,\N,1/22,Benign,\N,intron_variant,0.707,0.0091,1KG_AFR_AF,ALMS1
440860,2:73619913:T>A,NM_015120.4:c.324+6593T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.543,0.003,1KG_EAS_AF,ALMS1
440861,2:73619918:A>G,NM_015120.4:c.324+6598A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.07,0.001,1KG_EUR_AF,ALMS1
440862,2:73619928:C>T,NM_015120.4:c.324+6608C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.168,0.0008,1KG_AFR_AF,ALMS1
440863,2:73619929:G>A,NM_015120.4:c.324+6609G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.543,0.002,1KG_EAS_AF,ALMS1
440864,2:73619951:A>T,NM_015120.4:c.324+6631A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.413,0.0008,1KG_AFR_AF,ALMS1
440865,2:73619964:T>C,NM_015120.4:c.324+6644T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.403,0.0008,1KG_AFR_AF,ALMS1
440866,2:73619975:C>A,NM_015120.4:c.324+6655C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.852,0.0015,1KG_AFR_AF,ALMS1
440867,2:73619989:T>TG,NM_015120.4:c.324+6669_324+6670insG,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440868,2:73620011:C>T,NM_015120.4:c.324+6691C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.453,\N,\N,ALMS1
440869,2:73620072:A>G,NM_015120.4:c.324+6752A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.173,0.0043,1KG_AMR_AF,ALMS1
440870,2:73620095:G>C,NM_015120.4:c.324+6775G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.021,0.001,1KG_SAS_AF,ALMS1
440871,2:73620206:G>T,NM_015120.4:c.324+6886G>T,\N,\N,1/22,Benign,\N,intron_variant,4.775,0.0109,1KG_EAS_AF,ALMS1
440872,2:73620230:C>G,NM_015120.4:c.324+6910C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.282,0.001,1KG_SAS_AF,ALMS1
440873,2:73620235:C>T,NM_015120.4:c.324+6915C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.321,\N,\N,ALMS1
440874,2:73620272:A>G,NM_015120.4:c.324+6952A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.653,\N,\N,ALMS1
440875,2:73620292:A>AATTCTTTATATAT,NM_015120.4:c.324+6975_324+6987dup,\N,\N,1/22,Benign,\N,intron_variant,0.07,0.1377,1KG_AFR_AF,ALMS1
440876,2:73620308:G>A,NM_015120.4:c.324+6988G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.88,0.0008,1KG_AFR_AF,ALMS1
440877,2:73620317:A>G,NM_015120.4:c.324+6997A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.818,\N,\N,ALMS1
440878,2:73620354:A>G,NM_015120.4:c.324+7034A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.4,0.001,1KG_EUR_AF,ALMS1
440879,2:73620356:A>C,NM_015120.4:c.324+7036A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.644,0.0015,1KG_AFR_AF,ALMS1
440880,2:73620367:A>T,NM_015120.4:c.324+7047A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.316,\N,\N,ALMS1
440881,2:73620385:A>G,NM_015120.4:c.324+7065A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.71,\N,\N,ALMS1
440882,2:73620390:C>T,NM_015120.4:c.324+7070C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,11.05,\N,\N,ALMS1
440883,2:73620425:A>C,NM_015120.4:c.324+7105A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.83,0.001,1KG_SAS_AF,ALMS1
440884,2:73620432:G>C,NM_015120.4:c.324+7112G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,10.42,0.0008,1KG_AFR_AF,ALMS1
440885,2:73620461:G>A,NM_015120.4:c.324+7141G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.53,\N,\N,ALMS1
440886,2:73620478:A>G,NM_015120.4:c.324+7158A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.515,0.001,1KG_SAS_AF,ALMS1
440887,2:73620495:C>A,NM_015120.4:c.324+7175C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.14,\N,\N,ALMS1
440888,2:73620500:G>A,NM_015120.4:c.324+7180G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.655,0.0008,1KG_AFR_AF,ALMS1
440889,2:73620502:A>G,NM_015120.4:c.324+7182A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.39,\N,\N,ALMS1
440890,2:73620513:C>T,NM_015120.4:c.324+7193C>T,\N,\N,1/22,Benign,\N,intron_variant,1.735,0.0091,1KG_AFR_AF,ALMS1
440891,2:73620520:G>GT,NM_015120.4:c.324+7211dup,\N,\N,1/22,Unknown significance,\N,intron_variant,2.49,\N,\N,ALMS1
440892,2:73620520:GT>G,NM_015120.4:c.324+7211del,\N,\N,1/22,Benign,\N,intron_variant,6.356,0.1527,1KG_AMR_AF,ALMS1
440893,2:73620521:T>C,NM_015120.4:c.324+7201T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.671,0.001,1KG_EAS_AF,ALMS1
440894,2:73620532:A>T,NM_015120.4:c.324+7212A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.006,0.002,1KG_EUR_AF,ALMS1
440895,2:73620558:T>C,NM_015120.4:c.324+7238T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.312,0.001,1KG_EAS_AF,ALMS1
440896,2:73620560:G>A,NM_015120.4:c.324+7240G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.231,\N,\N,ALMS1
440897,2:73620590:T>C,NM_015120.4:c.324+7270T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.844,\N,\N,ALMS1
440898,2:73620600:C>T,NM_015120.4:c.324+7280C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.409,0.002,1KG_SAS_AF,ALMS1
440899,2:73620601:G>A,NM_015120.4:c.324+7281G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.172,0.0008,1KG_AFR_AF,ALMS1
440900,2:73620619:A>G,NM_015120.4:c.324+7299A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.098,\N,\N,ALMS1
440901,2:73620627:C>A,NM_015120.4:c.324+7307C>A,\N,\N,1/22,Benign,\N,intron_variant,2.761,0.0072,1KG_SAS_AF,ALMS1
440902,2:73620646:G>A,NM_015120.4:c.324+7326G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.054,\N,\N,ALMS1
440903,2:73620683:C>G,NM_015120.4:c.324+7363C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.37,0.001,1KG_EAS_AF,ALMS1
440904,2:73620690:A>G,NM_015120.4:c.324+7370A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.05,\N,\N,ALMS1
440905,2:73620694:C>T,NM_015120.4:c.324+7374C>T,\N,\N,1/22,Benign,\N,intron_variant,11.6,0.0189,1KG_AFR_AF,ALMS1
440906,2:73620698:C>G,NM_015120.4:c.324+7378C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.386,0.0008,1KG_AFR_AF,ALMS1
440907,2:73620723:A>T,NM_015120.4:c.324+7403A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.123,\N,\N,ALMS1
440908,2:73620826:C>G,NM_015120.4:c.324+7506C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.135,\N,\N,ALMS1
440909,2:73620840:C>T,NM_015120.4:c.324+7520C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.353,\N,\N,ALMS1
440910,2:73620843:A>T,NM_015120.4:c.324+7523A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.972,0.001,1KG_EAS_AF,ALMS1
440911,2:73620911:A>C,NM_015120.4:c.324+7591A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.859,0.001,1KG_EUR_AF,ALMS1
440912,2:73620939:G>A,NM_015120.4:c.324+7619G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.785,0.0029,1KG_AMR_AF,ALMS1
440913,2:73620961:T>C,NM_015120.4:c.324+7641T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.78,0.0029,1KG_AMR_AF,ALMS1
440914,2:73620973:G>A,NM_015120.4:c.324+7653G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.971,\N,\N,ALMS1
440915,2:73620981:G>A,NM_015120.4:c.324+7661G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.894,\N,\N,ALMS1
440916,2:73621017:C>T,NM_015120.4:c.324+7697C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.284,\N,\N,ALMS1
440917,2:73621047:C>A,NM_015120.4:c.324+7727C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,12.8,0.001,1KG_EAS_AF,ALMS1
440918,2:73621058:C>T,NM_015120.4:c.324+7738C>T,\N,\N,1/22,Benign,\N,intron_variant,13.11,0.0681,1KG_AFR_AF,ALMS1
440919,2:73621065:C>T,NM_015120.4:c.324+7745C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,12.86,0.001,1KG_SAS_AF,ALMS1
440920,2:73621069:C>T,NM_015120.4:c.324+7749C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,12.97,0.0031,1KG_SAS_AF,ALMS1
440921,2:73621076:G>C,NM_015120.4:c.324+7756G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.11,0.0008,1KG_AFR_AF,ALMS1
440922,2:73621088:A>G,NM_015120.4:c.324+7768A>G,\N,\N,1/22,Benign,\N,intron_variant,13.08,0.0348,1KG_AFR_AF,ALMS1
440923,2:73621105:T>C,NM_015120.4:c.324+7785T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.672,0.0029,1KG_AMR_AF,ALMS1
440924,2:73621200:C>T,NM_015120.4:c.324+7880C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.252,0.0014,1KG_AMR_AF,ALMS1
440925,2:73621201:G>A,NM_015120.4:c.324+7881G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.205,0.0014,1KG_AMR_AF,ALMS1
440926,2:73621239:A>G,NM_015120.4:c.324+7919A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.231,0.001,1KG_EUR_AF,ALMS1
440927,2:73621242:C>T,NM_015120.4:c.324+7922C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.948,0.001,1KG_SAS_AF,ALMS1
440928,2:73621257:C>T,NM_015120.4:c.324+7937C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.687,0.0023,1KG_AFR_AF,ALMS1
440929,2:73621261:T>C,NM_015120.4:c.324+7941T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.434,0.0014,1KG_AMR_AF,ALMS1
440930,2:73621272:T>C,NM_015120.4:c.324+7952T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.425,0.001,1KG_EUR_AF,ALMS1
440931,2:73621324:T>G,NM_015120.4:c.324+8004T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.162,\N,\N,ALMS1
440932,2:73621414:A>G,NM_015120.4:c.324+8094A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.728,\N,\N,ALMS1
440933,2:73621420:A>G,NM_015120.4:c.324+8100A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.54,\N,\N,ALMS1
440934,2:73621494:T>G,NM_015120.4:c.324+8174T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.812,0.0031,1KG_SAS_AF,ALMS1
440935,2:73621500:G>A,NM_015120.4:c.324+8180G>A,\N,\N,1/22,Benign,\N,intron_variant,0.088,0.0804,1KG_EAS_AF,ALMS1
440936,2:73621550:G>A,NM_015120.4:c.324+8230G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.396,0.0008,1KG_AFR_AF,ALMS1
440937,2:73621550:G>C,NM_015120.4:c.324+8230G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.294,\N,\N,ALMS1
440938,2:73621556:T>TG,NM_015120.4:c.324+8237dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440939,2:73621596:C>T,NM_015120.4:c.324+8276C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.428,0.001,1KG_EUR_AF,ALMS1
440940,2:73621598:G>A,NM_015120.4:c.324+8278G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.756,\N,\N,ALMS1
440941,2:73621620:G>C,NM_015120.4:c.324+8300G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.153,\N,\N,ALMS1
440942,2:73621644:A>G,NM_015120.4:c.324+8324A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.29,0.001,1KG_EUR_AF,ALMS1
440943,2:73621659:G>A,NM_015120.4:c.324+8339G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.423,\N,\N,ALMS1
440944,2:73621666:C>T,NM_015120.4:c.324+8346C>T,\N,\N,1/22,Benign,\N,intron_variant,0.429,0.0883,1KG_EAS_AF,ALMS1
440945,2:73621667:G>A,NM_015120.4:c.324+8347G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.276,0.001,1KG_EUR_AF,ALMS1
440946,2:73621693:G>T,NM_015120.4:c.324+8373G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.588,0.0008,1KG_AFR_AF,ALMS1
440947,2:73621697:C>G,NM_015120.4:c.324+8377C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.694,0.0008,1KG_AFR_AF,ALMS1
440948,2:73621711:C>T,NM_015120.4:c.324+8391C>T,\N,\N,1/22,Benign,\N,intron_variant,5.557,0.028,1KG_AFR_AF,ALMS1
440949,2:73621756:G>C,NM_015120.4:c.324+8436G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.464,\N,\N,ALMS1
440950,2:73621758:G>A,NM_015120.4:c.324+8438G>A,\N,\N,1/22,Benign,\N,intron_variant,1.387,0.0681,1KG_AFR_AF,ALMS1
440951,2:73621762:G>A,NM_015120.4:c.324+8442G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.563,\N,\N,ALMS1
440952,2:73621767:C>T,NM_015120.4:c.324+8447C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.506,\N,\N,ALMS1
440953,2:73621768:G>A,NM_015120.4:c.324+8448G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.195,\N,\N,ALMS1
440954,2:73621904:G>A,NM_015120.4:c.324+8584G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.96,0.0014,1KG_AMR_AF,ALMS1
440955,2:73621924:T>C,NM_015120.4:c.324+8604T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,10.65,\N,\N,ALMS1
440956,2:73621938:C>T,NM_015120.4:c.324+8618C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,12.66,0.001,1KG_SAS_AF,ALMS1
440957,2:73621946:A>G,NM_015120.4:c.324+8626A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.06,0.001,1KG_EAS_AF,ALMS1
440958,2:73621948:A>G,NM_015120.4:c.324+8628A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,11.43,0.001,1KG_EAS_AF,ALMS1
440959,2:73622016:G>A,NM_015120.4:c.324+8696G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.882,0.0008,1KG_AFR_AF,ALMS1
440960,2:73622026:T>C,NM_015120.4:c.324+8706T>C,\N,\N,1/22,Benign,\N,intron_variant,1.488,0.8775,1KG_AFR_AF,ALMS1
440961,2:73622048:T>G,NM_015120.4:c.324+8728T>G,\N,\N,1/22,Benign,\N,intron_variant,3.725,0.1254,1KG_AMR_AF,ALMS1
440962,2:73622062:T>C,NM_015120.4:c.324+8742T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.316,\N,\N,ALMS1
440963,2:73622085:A>C,NM_015120.4:c.324+8765A>C,\N,\N,1/22,Benign,\N,intron_variant,8.088,0.0308,1KG_EAS_AF,ALMS1
440964,2:73622107:CATATATATGTGTAT>C,NM_015120.4:c.324+8808_324+8821del,\N,\N,1/22,Benign,\N,intron_variant,11.02,0.1326,1KG_AMR_AF,ALMS1
440965,2:73622118:G>GTA,NM_015120.4:c.324+8808_324+8809dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440966,2:73622118:GTA>G,NM_015120.4:c.324+8808_324+8809del,\N,\N,1/22,Unknown significance,\N,intron_variant,10.79,\N,\N,ALMS1
440967,2:73622120:A>ATATATATATGTG,NM_015120.4:c.324+8838_324+8849dup,\N,\N,1/22,Unknown significance,\N,intron_variant,3.394,\N,\N,ALMS1
440968,2:73622120:A>G,NM_015120.4:c.324+8800A>G,\N,\N,1/22,Benign,\N,intron_variant,8.898,0.1702,1KG_AFR_AF,ALMS1
440969,2:73622145:T>C,NM_015120.4:c.324+8825T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.177,0.0014,1KG_AMR_AF,ALMS1
440970,2:73622164:ATGTG>A,NM_015120.4:c.324+8850_324+8853del,\N,\N,1/22,Benign,\N,intron_variant,2.757,0.3343,1KG_AFR_AF,ALMS1
440971,2:73622168:G>GTGTGTATA,NM_015120.4:c.324+8850_324+8857dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440972,2:73622168:GTGTGTA>G,NM_015120.4:c.324+8850_324+8855del,\N,\N,1/22,Unknown significance,\N,intron_variant,4.567,\N,\N,ALMS1
440973,2:73622182:A>G,NM_015120.4:c.324+8862A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.219,\N,\N,ALMS1
440974,2:73622184:A>ATG,NM_015120.4:c.324+8868_324+8869dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440975,2:73622184:A>G,NM_015120.4:c.324+8864A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.354,\N,\N,ALMS1
440976,2:73622188:GTATATA>G,NM_015120.4:c.324+8882_324+8887del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
440977,2:73622190:A>G,NM_015120.4:c.324+8870A>G,\N,\N,1/22,Benign,\N,intron_variant,1.756,0.147,1KG_AMR_AF,ALMS1
440978,2:73622192:A>G,NM_015120.4:c.324+8872A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.316,\N,\N,ALMS1
440979,2:73622206:A>T,NM_015120.4:c.324+8886A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.009,\N,\N,ALMS1
440980,2:73622208:T>A,NM_015120.4:c.324+8888T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.35,\N,\N,ALMS1
440981,2:73622296:G>A,NM_015120.4:c.324+8976G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.342,\N,\N,ALMS1
440982,2:73622297:C>T,NM_015120.4:c.324+8977C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.99,0.003,1KG_EUR_AF,ALMS1
440983,2:73622353:G>A,NM_015120.4:c.324+9033G>A,\N,\N,1/22,Benign,\N,intron_variant,9.655,0.1271,1KG_AFR_AF,ALMS1
440984,2:73622423:G>T,NM_015120.4:c.324+9103G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.12,\N,\N,ALMS1
440985,2:73622428:G>A,NM_015120.4:c.324+9108G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.153,\N,\N,ALMS1
440986,2:73622456:C>G,NM_015120.4:c.324+9136C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.343,\N,\N,ALMS1
440987,2:73622492:C>T,NM_015120.4:c.324+9172C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.057,0.001,1KG_EAS_AF,ALMS1
440988,2:73622546:C>G,NM_015120.4:c.324+9226C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.63,\N,\N,ALMS1
440989,2:73622620:T>C,NM_015120.4:c.324+9300T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.995,0.0008,1KG_AFR_AF,ALMS1
440990,2:73622622:G>A,NM_015120.4:c.324+9302G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.55,0.0014,1KG_AMR_AF,ALMS1
440991,2:73622635:C>T,NM_015120.4:c.324+9315C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.284,0.001,1KG_EUR_AF,ALMS1
440992,2:73622663:C>T,NM_015120.4:c.324+9343C>T,\N,\N,1/22,Benign,\N,intron_variant,1.889,0.7421,1KG_AFR_AF,ALMS1
440993,2:73622701:A>G,NM_015120.4:c.324+9381A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.788,0.001,1KG_EAS_AF,ALMS1
440994,2:73622707:ATGTT>A,NM_015120.4:c.324+9390_324+9393del,\N,\N,1/22,Unknown significance,\N,intron_variant,8.129,\N,\N,ALMS1
440995,2:73622721:C>T,NM_015120.4:c.324+9401C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.829,0.0023,1KG_AFR_AF,ALMS1
440996,2:73622845:C>G,NM_015120.4:c.324+9525C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.979,\N,\N,ALMS1
440997,2:73622853:G>A,NM_015120.4:c.324+9533G>A,\N,\N,1/22,Benign,\N,intron_variant,9.633,0.0083,1KG_AFR_AF,ALMS1
440998,2:73622855:G>A,NM_015120.4:c.324+9535G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.425,\N,\N,ALMS1
440999,2:73622858:A>AAT,NM_015120.4:c.324+9546_324+9547dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441000,2:73622861:A>C,NM_015120.4:c.324+9541A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.617,0.001,1KG_EAS_AF,ALMS1
441001,2:73622887:A>C,NM_015120.4:c.324+9567A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.194,0.0008,1KG_AFR_AF,ALMS1
441002,2:73622916:G>A,NM_015120.4:c.324+9596G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.697,\N,\N,ALMS1
441003,2:73622925:C>T,NM_015120.4:c.324+9605C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.18,0.0029,1KG_AMR_AF,ALMS1
441004,2:73622955:A>G,NM_015120.4:c.324+9635A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.313,\N,\N,ALMS1
441005,2:73622970:G>A,NM_015120.4:c.324+9650G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.014,0.0008,1KG_AFR_AF,ALMS1
441006,2:73622980:T>C,NM_015120.4:c.324+9660T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.24,0.001,1KG_SAS_AF,ALMS1
441007,2:73623059:A>G,NM_015120.4:c.324+9739A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.192,\N,\N,ALMS1
441008,2:73623061:A>G,NM_015120.4:c.324+9741A>G,\N,\N,1/22,Benign,\N,intron_variant,9.018,0.0169,1KG_EAS_AF,ALMS1
441009,2:73623112:T>C,NM_015120.4:c.324+9792T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,10.4,0.001,1KG_EAS_AF,ALMS1
441010,2:73623154:C>G,NM_015120.4:c.324+9834C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.86,0.001,1KG_EAS_AF,ALMS1
441011,2:73623175:G>A,NM_015120.4:c.324+9855G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.698,0.001,1KG_SAS_AF,ALMS1
441012,2:73623200:C>T,NM_015120.4:c.324+9880C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.767,0.0008,1KG_AFR_AF,ALMS1
441013,2:73623205:T>A,NM_015120.4:c.324+9885T>A,\N,\N,1/22,Benign,\N,intron_variant,7.273,0.7405,1KG_AFR_AF,ALMS1
441014,2:73623230:T>C,NM_015120.4:c.324+9910T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.503,0.0008,1KG_AFR_AF,ALMS1
441015,2:73623281:C>A,NM_015120.4:c.324+9961C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.82,0.001,1KG_SAS_AF,ALMS1
441016,2:73623307:T>G,NM_015120.4:c.324+9987T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.97,0.001,1KG_EUR_AF,ALMS1
441017,2:73623326:A>G,NM_015120.4:c.324+10006A>G,\N,\N,1/22,Benign,\N,intron_variant,9.798,0.0249,1KG_EUR_AF,ALMS1
441018,2:73623328:C>T,NM_015120.4:c.324+10008C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.134,\N,\N,ALMS1
441019,2:73623329:G>A,NM_015120.4:c.324+10009G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.114,\N,\N,ALMS1
441020,2:73623334:A>G,NM_015120.4:c.324+10014A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.905,\N,\N,ALMS1
441021,2:73623350:T>C,NM_015120.4:c.324+10030T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.33,\N,\N,ALMS1
441022,2:73623351:T>C,NM_015120.4:c.324+10031T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.78,0.0045,1KG_AFR_AF,ALMS1
441023,2:73623353:G>C,NM_015120.4:c.324+10033G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,10.3,\N,\N,ALMS1
441024,2:73623389:G>C,NM_015120.4:c.324+10069G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.41,0.0014,1KG_AMR_AF,ALMS1
441025,2:73623391:C>T,NM_015120.4:c.324+10071C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,13.69,0.0014,1KG_AMR_AF,ALMS1
441026,2:73623431:T>TAC,NM_015120.4:c.324+10146_324+10147dup,\N,\N,1/22,Unknown significance,\N,intron_variant,12.2,\N,\N,ALMS1
441027,2:73623431:TAC>T,NM_015120.4:c.324+10146_324+10147del,\N,\N,1/22,Unknown significance,\N,intron_variant,15.01,\N,\N,ALMS1
441028,2:73623437:C>CAT,NM_015120.4:c.324+10118_324+10119insTA,\N,\N,1/22,Unknown significance,\N,intron_variant,12.75,\N,\N,ALMS1
441029,2:73623439:C>T,NM_015120.4:c.324+10119C>T,\N,\N,1/22,Benign,\N,intron_variant,12.9,0.6029,1KG_AFR_AF,ALMS1
441030,2:73623488:T>G,NM_015120.4:c.324+10168T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.135,\N,\N,ALMS1
441031,2:73623512:T>C,NM_015120.4:c.324+10192T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.592,0.0008,1KG_AFR_AF,ALMS1
441032,2:73623597:C>T,NM_015120.4:c.324+10277C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.578,\N,\N,ALMS1
441033,2:73623644:A>C,NM_015120.4:c.324+10324A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.782,0.002,1KG_EUR_AF,ALMS1
441034,2:73623677:TC>T,NM_015120.4:c.324+10358del,\N,\N,1/22,Unknown significance,\N,intron_variant,5.874,\N,\N,ALMS1
441035,2:73623678:C>CT,NM_015120.4:c.324+10379dup,\N,\N,1/22,Unknown significance,\N,intron_variant,6.871,\N,\N,ALMS1
441036,2:73623678:C>CTT,NM_015120.4:c.324+10378_324+10379dup,\N,\N,1/22,Unknown significance,\N,intron_variant,6.735,\N,\N,ALMS1
441037,2:73623678:C>CTTT,NM_015120.4:c.324+10377_324+10379dup,\N,\N,1/22,Unknown significance,\N,intron_variant,6.596,\N,\N,ALMS1
441038,2:73623710:G>A,NM_015120.4:c.324+10390G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.545,0.0008,1KG_AFR_AF,ALMS1
441039,2:73623726:A>G,NM_015120.4:c.324+10406A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.471,0.002,1KG_EAS_AF,ALMS1
441040,2:73623727:C>A,NM_015120.4:c.324+10407C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.029,0.002,1KG_EAS_AF,ALMS1
441041,2:73623751:T>C,NM_015120.4:c.324+10431T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.301,0.001,1KG_EUR_AF,ALMS1
441042,2:73623774:CT>C,NM_015120.4:c.324+10469del,\N,\N,1/22,Benign,\N,intron_variant,9.993,0.8026,1KG_AFR_AF,ALMS1
441043,2:73623792:G>A,NM_015120.4:c.324+10472G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.799,\N,\N,ALMS1
441044,2:73623794:C>T,NM_015120.4:c.324+10474C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.338,\N,\N,ALMS1
441045,2:73623795:G>A,NM_015120.4:c.324+10475G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.084,0.0008,1KG_AFR_AF,ALMS1
441046,2:73623810:C>T,NM_015120.4:c.324+10490C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.995,\N,\N,ALMS1
441047,2:73623836:G>T,NM_015120.4:c.324+10516G>T,\N,\N,1/22,Benign,\N,intron_variant,2.49,0.0092,1KG_SAS_AF,ALMS1
441048,2:73623853:A>G,NM_015120.4:c.324+10533A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.586,\N,\N,ALMS1
441049,2:73623882:T>C,NM_015120.4:c.324+10562T>C,\N,\N,1/22,Benign,\N,intron_variant,1.887,0.8775,1KG_AFR_AF,ALMS1
441050,2:73623892:C>A,NM_015120.4:c.324+10572C>A,\N,\N,1/22,Benign,\N,intron_variant,5.254,0.0068,1KG_AFR_AF,ALMS1
441051,2:73623917:C>T,NM_015120.4:c.324+10597C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.943,\N,\N,ALMS1
441052,2:73623929:C>T,NM_015120.4:c.324+10609C>T,\N,\N,1/22,Benign,\N,intron_variant,2.325,0.2784,1KG_AFR_AF,ALMS1
441053,2:73623958:G>A,NM_015120.4:c.324+10638G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.339,\N,\N,ALMS1
441054,2:73623962:C>T,NM_015120.4:c.324+10642C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.024,0.001,1KG_EUR_AF,ALMS1
441055,2:73623963:G>A,NM_015120.4:c.324+10643G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.154,\N,\N,ALMS1
441056,2:73623994:G>A,NM_015120.4:c.324+10674G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.009,0.0008,1KG_AFR_AF,ALMS1
441057,2:73623994:G>C,NM_015120.4:c.324+10674G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.959,\N,\N,ALMS1
441058,2:73624007:C>T,NM_015120.4:c.324+10687C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.854,0.0008,1KG_AFR_AF,ALMS1
441059,2:73624008:G>A,NM_015120.4:c.324+10688G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.542,0.001,1KG_SAS_AF,ALMS1
441060,2:73624023:C>T,NM_015120.4:c.324+10703C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.948,0.0015,1KG_AFR_AF,ALMS1
441061,2:73624062:G>A,NM_015120.4:c.324+10742G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.457,0.001,1KG_SAS_AF,ALMS1
441062,2:73624063:C>T,NM_015120.4:c.324+10743C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.848,0.0031,1KG_SAS_AF,ALMS1
441063,2:73624065:C>T,NM_015120.4:c.324+10745C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.87,\N,\N,ALMS1
441064,2:73624103:A>G,NM_015120.4:c.324+10783A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.703,\N,\N,ALMS1
441065,2:73624135:A>G,NM_015120.4:c.324+10815A>G,\N,\N,1/22,Benign,\N,intron_variant,3.408,0.0245,1KG_SAS_AF,ALMS1
441066,2:73624147:G>T,NM_015120.4:c.324+10827G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.82,0.0031,1KG_SAS_AF,ALMS1
441067,2:73624218:A>G,NM_015120.4:c.324+10898A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.307,0.002,1KG_SAS_AF,ALMS1
441068,2:73624220:G>A,NM_015120.4:c.324+10900G>A,\N,\N,1/22,Benign,\N,intron_variant,1.601,0.0099,1KG_EAS_AF,ALMS1
441069,2:73624228:G>A,NM_015120.4:c.324+10908G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.102,\N,\N,ALMS1
441070,2:73624241:C>G,NM_015120.4:c.324+10921C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.611,\N,\N,ALMS1
441071,2:73624241:C>T,NM_015120.4:c.324+10921C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.034,\N,\N,ALMS1
441072,2:73624248:A>G,NM_015120.4:c.324+10928A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.168,0.0015,1KG_AFR_AF,ALMS1
441073,2:73624276:C>T,NM_015120.4:c.324+10956C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.221,\N,\N,ALMS1
441074,2:73624280:G>A,NM_015120.4:c.324+10960G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.76,\N,\N,ALMS1
441075,2:73624303:G>A,NM_015120.4:c.324+10983G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.814,0.0008,1KG_AFR_AF,ALMS1
441076,2:73624341:T>C,NM_015120.4:c.324+11021T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.811,0.0008,1KG_AFR_AF,ALMS1
441077,2:73624346:T>C,NM_015120.4:c.324+11026T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.162,\N,\N,ALMS1
441078,2:73624349:C>G,NM_015120.4:c.324+11029C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.816,0.001,1KG_EAS_AF,ALMS1
441079,2:73624361:A>G,NM_015120.4:c.324+11041A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.576,0.0008,1KG_AFR_AF,ALMS1
441080,2:73624392:C>G,NM_015120.4:c.324+11072C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.803,\N,\N,ALMS1
441081,2:73624494:G>T,NM_015120.4:c.324+11174G>T,\N,\N,1/22,Benign,\N,intron_variant,0.337,0.0061,1KG_AFR_AF,ALMS1
441082,2:73624501:T>C,NM_015120.4:c.324+11181T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.826,\N,\N,ALMS1
441083,2:73624508:T>C,NM_015120.4:c.324+11188T>C,\N,\N,1/22,Benign,\N,intron_variant,0.541,0.0091,1KG_AFR_AF,ALMS1
441084,2:73624513:C>CT,NM_015120.4:c.324+11204dup,\N,\N,1/22,Unknown significance,\N,intron_variant,2.114,\N,\N,ALMS1
441085,2:73624513:CT>C,NM_015120.4:c.324+11204del,\N,\N,1/22,Unknown significance,\N,intron_variant,1.642,\N,\N,ALMS1
441086,2:73624538:G>C,NM_015120.4:c.325-11212G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.164,\N,\N,ALMS1
441087,2:73624541:T>C,NM_015120.4:c.325-11209T>C,\N,\N,1/22,Benign,\N,intron_variant,0.951,0.0337,1KG_EAS_AF,ALMS1
441088,2:73624543:A>G,NM_015120.4:c.325-11207A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.435,0.001,1KG_SAS_AF,ALMS1
441089,2:73624559:T>C,NM_015120.4:c.325-11191T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.934,\N,\N,ALMS1
441090,2:73624589:G>T,NM_015120.4:c.325-11161G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.255,0.0023,1KG_AFR_AF,ALMS1
441091,2:73624626:G>A,NM_015120.4:c.325-11124G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.845,\N,\N,ALMS1
441092,2:73624627:C>T,NM_015120.4:c.325-11123C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.197,\N,\N,ALMS1
441093,2:73624636:C>T,NM_015120.4:c.325-11114C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.793,0.001,1KG_SAS_AF,ALMS1
441094,2:73624652:A>G,NM_015120.4:c.325-11098A>G,\N,\N,1/22,Benign,\N,intron_variant,10.39,0.0198,1KG_EAS_AF,ALMS1
441095,2:73624669:C>T,NM_015120.4:c.325-11081C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.791,\N,\N,ALMS1
441096,2:73624670:A>T,NM_015120.4:c.325-11080A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.411,0.001,1KG_EUR_AF,ALMS1
441097,2:73624709:C>T,NM_015120.4:c.325-11041C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.3,0.0008,1KG_AFR_AF,ALMS1
441098,2:73624746:C>T,NM_015120.4:c.325-11004C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.162,0.0008,1KG_AFR_AF,ALMS1
441099,2:73624761:A>C,NM_015120.4:c.325-10989A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.64,\N,\N,ALMS1
441100,2:73624762:A>G,NM_015120.4:c.325-10988A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.604,0.0014,1KG_AMR_AF,ALMS1
441101,2:73624792:A>C,NM_015120.4:c.325-10958A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.444,\N,\N,ALMS1
441102,2:73624800:A>C,NM_015120.4:c.325-10950A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.757,\N,\N,ALMS1
441103,2:73624807:G>A,NM_015120.4:c.325-10943G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.765,\N,\N,ALMS1
441104,2:73624815:C>T,NM_015120.4:c.325-10935C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.446,\N,\N,ALMS1
441105,2:73624829:C>T,NM_015120.4:c.325-10921C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.5,\N,\N,ALMS1
441106,2:73624835:A>T,NM_015120.4:c.325-10915A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.616,\N,\N,ALMS1
441107,2:73624840:C>T,NM_015120.4:c.325-10910C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.185,0.0008,1KG_AFR_AF,ALMS1
441108,2:73624844:C>T,NM_015120.4:c.325-10906C>T,\N,\N,1/22,Benign,\N,intron_variant,3.306,0.5741,1KG_AFR_AF,ALMS1
441109,2:73624849:G>A,NM_015120.4:c.325-10901G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.482,\N,\N,ALMS1
441110,2:73624856:A>G,NM_015120.4:c.325-10894A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.544,0.002,1KG_SAS_AF,ALMS1
441111,2:73624876:G>A,NM_015120.4:c.325-10874G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.999,\N,\N,ALMS1
441112,2:73624904:T>C,NM_015120.4:c.325-10846T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.994,\N,\N,ALMS1
441113,2:73624923:G>A,NM_015120.4:c.325-10827G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.77,\N,\N,ALMS1
441114,2:73624923:G>C,NM_015120.4:c.325-10827G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.34,0.0008,1KG_AFR_AF,ALMS1
441115,2:73624925:T>TC,NM_015120.4:c.325-10824dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441116,2:73624950:CAG>C,NM_015120.4:c.325-10797_325-10796del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441117,2:73624963:T>C,NM_015120.4:c.325-10787T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.264,0.001,1KG_SAS_AF,ALMS1
441118,2:73624973:C>T,NM_015120.4:c.325-10777C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.238,\N,\N,ALMS1
441119,2:73624979:C>G,NM_015120.4:c.325-10771C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.356,0.002,1KG_EAS_AF,ALMS1
441120,2:73624988:C>A,NM_015120.4:c.325-10762C>A,\N,\N,1/22,Benign,\N,intron_variant,0.595,0.0265,1KG_AFR_AF,ALMS1
441121,2:73624990:C>T,NM_015120.4:c.325-10760C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.463,\N,\N,ALMS1
441122,2:73625009:A>G,NM_015120.4:c.325-10741A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.033,0.0008,1KG_AFR_AF,ALMS1
441123,2:73625017:T>C,NM_015120.4:c.325-10733T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.407,\N,\N,ALMS1
441124,2:73625037:T>C,NM_015120.4:c.325-10713T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.128,0.002,1KG_EAS_AF,ALMS1
441125,2:73625073:C>CAAAGCAGAATA,NM_015120.4:c.325-10676_325-10675insAAGCAGAATAA,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441126,2:73625075:G>A,NM_015120.4:c.325-10675G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.286,0.0014,1KG_AMR_AF,ALMS1
441127,2:73625097:A>C,NM_015120.4:c.325-10653A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.172,\N,\N,ALMS1
441128,2:73625104:A>C,NM_015120.4:c.325-10646A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.251,0.001,1KG_EAS_AF,ALMS1
441129,2:73625115:G>C,NM_015120.4:c.325-10635G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.409,0.0014,1KG_AMR_AF,ALMS1
441130,2:73625142:A>G,NM_015120.4:c.325-10608A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.571,\N,\N,ALMS1
441131,2:73625162:C>G,NM_015120.4:c.325-10588C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.752,\N,\N,ALMS1
441132,2:73625190:A>G,NM_015120.4:c.325-10560A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.31,0.0008,1KG_AFR_AF,ALMS1
441133,2:73625206:A>G,NM_015120.4:c.325-10544A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.87,\N,\N,ALMS1
441134,2:73625268:A>G,NM_015120.4:c.325-10482A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.26,0.001,1KG_SAS_AF,ALMS1
441135,2:73625279:A>T,NM_015120.4:c.325-10471A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.351,\N,\N,ALMS1
441136,2:73625290:T>C,NM_015120.4:c.325-10460T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.306,0.001,1KG_SAS_AF,ALMS1
441137,2:73625330:T>A,NM_015120.4:c.325-10420T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.433,0.001,1KG_EUR_AF,ALMS1
441138,2:73625333:A>G,NM_015120.4:c.325-10417A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.212,\N,\N,ALMS1
441139,2:73625343:T>G,NM_015120.4:c.325-10407T>G,\N,\N,1/22,Benign,\N,intron_variant,8.738,0.007,1KG_EUR_AF,ALMS1
441140,2:73625348:C>A,NM_015120.4:c.325-10402C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.198,0.001,1KG_EAS_AF,ALMS1
441141,2:73625357:T>C,NM_015120.4:c.325-10393T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.621,\N,\N,ALMS1
441142,2:73625391:C>T,NM_015120.4:c.325-10359C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.412,\N,\N,ALMS1
441143,2:73625392:G>A,NM_015120.4:c.325-10358G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.768,\N,\N,ALMS1
441144,2:73625430:G>A,NM_015120.4:c.325-10320G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.429,\N,\N,ALMS1
441145,2:73625435:A>G,NM_015120.4:c.325-10315A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.886,0.001,1KG_SAS_AF,ALMS1
441146,2:73625468:A>G,NM_015120.4:c.325-10282A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.377,0.0008,1KG_AFR_AF,ALMS1
441147,2:73625481:G>A,NM_015120.4:c.325-10269G>A,\N,\N,1/22,Benign,\N,intron_variant,1.796,0.1248,1KG_AFR_AF,ALMS1
441148,2:73625496:C>T,NM_015120.4:c.325-10254C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.703,\N,\N,ALMS1
441149,2:73625542:A>G,NM_015120.4:c.325-10208A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.798,\N,\N,ALMS1
441150,2:73625543:G>A,NM_015120.4:c.325-10207G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.271,\N,\N,ALMS1
441151,2:73625554:C>T,NM_015120.4:c.325-10196C>T,\N,\N,1/22,Benign,\N,intron_variant,9.554,0.0089,1KG_EAS_AF,ALMS1
441152,2:73625563:T>C,NM_015120.4:c.325-10187T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.98,0.002,1KG_SAS_AF,ALMS1
441153,2:73625587:T>A,NM_015120.4:c.325-10163T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.908,\N,\N,ALMS1
441154,2:73625637:C>T,NM_015120.4:c.325-10113C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.806,0.001,1KG_EAS_AF,ALMS1
441155,2:73625642:A>G,NM_015120.4:c.325-10108A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.973,0.0031,1KG_SAS_AF,ALMS1
441156,2:73625645:T>C,NM_015120.4:c.325-10105T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.456,\N,\N,ALMS1
441157,2:73625648:A>G,NM_015120.4:c.325-10102A>G,\N,\N,1/22,Benign,\N,intron_variant,8.594,0.006,1KG_EUR_AF,ALMS1
441158,2:73625673:A>G,NM_015120.4:c.325-10077A>G,\N,\N,1/22,Benign,\N,intron_variant,16.45,0.0053,1KG_AFR_AF,ALMS1
441159,2:73625676:T>G,NM_015120.4:c.325-10074T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,16.65,0.002,1KG_EUR_AF,ALMS1
441160,2:73625696:A>T,NM_015120.4:c.325-10054A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,11.88,0.0014,1KG_AMR_AF,ALMS1
441161,2:73625699:A>G,NM_015120.4:c.325-10051A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.34,0.001,1KG_EAS_AF,ALMS1
441162,2:73625714:C>A,NM_015120.4:c.325-10036C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,13.58,\N,\N,ALMS1
441163,2:73625742:C>T,NM_015120.4:c.325-10008C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,13.78,0.0014,1KG_AMR_AF,ALMS1
441164,2:73625746:G>A,NM_015120.4:c.325-10004G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,12.27,\N,\N,ALMS1
441165,2:73625832:A>G,NM_015120.4:c.325-9918A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.055,0.0014,1KG_AMR_AF,ALMS1
441166,2:73625836:GTAT>G,NM_015120.4:c.325-9909_325-9907del,\N,\N,1/22,Unknown significance,\N,intron_variant,6.853,\N,\N,ALMS1
441167,2:73625866:C>T,NM_015120.4:c.325-9884C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.246,0.001,1KG_EAS_AF,ALMS1
441168,2:73625913:A>G,NM_015120.4:c.325-9837A>G,\N,\N,1/22,Benign,\N,intron_variant,3.843,0.005,1KG_EAS_AF,ALMS1
441169,2:73625944:A>G,NM_015120.4:c.325-9806A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.933,\N,\N,ALMS1
441170,2:73625958:T>G,NM_015120.4:c.325-9792T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.966,0.0008,1KG_AFR_AF,ALMS1
441171,2:73625980:C>CT,NM_015120.4:c.325-9761dup,\N,\N,1/22,Benign,\N,intron_variant,13.08,0.0741,1KG_AFR_AF,ALMS1
441172,2:73625996:G>C,NM_015120.4:c.325-9754G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.451,\N,\N,ALMS1
441173,2:73626015:G>A,NM_015120.4:c.325-9735G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.413,0.0043,1KG_AMR_AF,ALMS1
441174,2:73626074:C>T,NM_015120.4:c.325-9676C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.201,0.001,1KG_SAS_AF,ALMS1
441175,2:73626101:A>G,NM_015120.4:c.325-9649A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.091,\N,\N,ALMS1
441176,2:73626107:G>T,NM_015120.4:c.325-9643G>T,\N,\N,1/22,Benign,\N,intron_variant,2.326,0.0079,1KG_EAS_AF,ALMS1
441177,2:73626113:A>G,NM_015120.4:c.325-9637A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.442,\N,\N,ALMS1
441178,2:73626117:G>A,NM_015120.4:c.325-9633G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.389,0.0038,1KG_AFR_AF,ALMS1
441179,2:73626181:A>G,NM_015120.4:c.325-9569A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.3,0.0008,1KG_AFR_AF,ALMS1
441180,2:73626204:C>T,NM_015120.4:c.325-9546C>T,\N,\N,1/22,Benign,\N,intron_variant,2.237,0.0666,1KG_AFR_AF,ALMS1
441181,2:73626211:C>T,NM_015120.4:c.325-9539C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.326,0.002,1KG_SAS_AF,ALMS1
441182,2:73626215:G>T,NM_015120.4:c.325-9535G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.004,0.001,1KG_EAS_AF,ALMS1
441183,2:73626226:T>A,NM_015120.4:c.325-9524T>A,\N,\N,1/22,Benign,\N,intron_variant,0.889,0.0179,1KG_EAS_AF,ALMS1
441184,2:73626271:G>A,NM_015120.4:c.325-9479G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.626,0.001,1KG_SAS_AF,ALMS1
441185,2:73626305:A>G,NM_015120.4:c.325-9445A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.578,0.001,1KG_EAS_AF,ALMS1
441186,2:73626336:C>T,NM_015120.4:c.325-9414C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.507,0.001,1KG_EAS_AF,ALMS1
441187,2:73626361:T>C,NM_015120.4:c.325-9389T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.73,0.0014,1KG_AMR_AF,ALMS1
441188,2:73626371:G>A,NM_015120.4:c.325-9379G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,11.95,\N,\N,ALMS1
441189,2:73626377:T>C,NM_015120.4:c.325-9373T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.593,\N,\N,ALMS1
441190,2:73626388:A>G,NM_015120.4:c.325-9362A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.212,\N,\N,ALMS1
441191,2:73626393:C>G,NM_015120.4:c.325-9357C>G,\N,\N,1/22,Benign,\N,intron_variant,8.762,0.0265,1KG_AFR_AF,ALMS1
441192,2:73626409:G>A,NM_015120.4:c.325-9341G>A,\N,\N,1/22,Benign,\N,intron_variant,8.53,0.006,1KG_EUR_AF,ALMS1
441193,2:73626417:T>C,NM_015120.4:c.325-9333T>C,\N,\N,1/22,Benign,\N,intron_variant,6.722,0.0726,1KG_AFR_AF,ALMS1
441194,2:73626424:G>T,NM_015120.4:c.325-9326G>T,\N,\N,1/22,Benign,\N,intron_variant,2.79,0.0265,1KG_AFR_AF,ALMS1
441195,2:73626426:G>T,NM_015120.4:c.325-9324G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.512,0.0031,1KG_SAS_AF,ALMS1
441196,2:73626435:C>T,NM_015120.4:c.325-9315C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.774,\N,\N,ALMS1
441197,2:73626436:G>A,NM_015120.4:c.325-9314G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.195,0.0008,1KG_AFR_AF,ALMS1
441198,2:73626450:A>G,NM_015120.4:c.325-9300A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.432,0.0015,1KG_AFR_AF,ALMS1
441199,2:73626478:T>C,NM_015120.4:c.325-9272T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.94,0.001,1KG_EUR_AF,ALMS1
441200,2:73626484:G>T,NM_015120.4:c.325-9266G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.771,0.001,1KG_SAS_AF,ALMS1
441201,2:73626530:T>C,NM_015120.4:c.325-9220T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.909,0.0008,1KG_AFR_AF,ALMS1
441202,2:73626544:G>A,NM_015120.4:c.325-9206G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.759,0.0008,1KG_AFR_AF,ALMS1
441203,2:73626584:G>C,NM_015120.4:c.325-9166G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.112,0.0014,1KG_AMR_AF,ALMS1
441204,2:73626598:C>T,NM_015120.4:c.325-9152C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.784,0.0015,1KG_AFR_AF,ALMS1
441205,2:73626601:G>A,NM_015120.4:c.325-9149G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.199,\N,\N,ALMS1
441206,2:73626604:G>A,NM_015120.4:c.325-9146G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.769,\N,\N,ALMS1
441207,2:73626634:G>T,NM_015120.4:c.325-9116G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,14.7,\N,\N,ALMS1
441208,2:73626642:C>G,NM_015120.4:c.325-9108C>G,\N,\N,1/22,Benign,\N,intron_variant,16,0.0696,1KG_AFR_AF,ALMS1
441209,2:73626663:T>C,NM_015120.4:c.325-9087T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,14.94,0.001,1KG_EUR_AF,ALMS1
441210,2:73626666:G>A,NM_015120.4:c.325-9084G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,14.31,\N,\N,ALMS1
441211,2:73626671:T>TA,NM_015120.4:c.325-9078dup,\N,\N,1/22,Unknown significance,\N,intron_variant,10.6,0.0031,1KG_SAS_AF,ALMS1
441212,2:73626687:T>C,NM_015120.4:c.325-9063T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,12.52,\N,\N,ALMS1
441213,2:73626691:C>T,NM_015120.4:c.325-9059C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,13.73,0.0023,1KG_AFR_AF,ALMS1
441214,2:73626724:G>T,NM_015120.4:c.325-9026G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.63,\N,\N,ALMS1
441215,2:73626790:A>G,NM_015120.4:c.325-8960A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.21,0.0023,1KG_AFR_AF,ALMS1
441216,2:73626796:G>A,NM_015120.4:c.325-8954G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.28,0.0014,1KG_AMR_AF,ALMS1
441217,2:73626799:T>A,NM_015120.4:c.325-8951T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.864,0.001,1KG_EAS_AF,ALMS1
441218,2:73626844:C>T,NM_015120.4:c.325-8906C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,11.86,\N,\N,ALMS1
441219,2:73626844:CCTTGTT>C,NM_015120.4:c.325-8901_325-8896del,\N,\N,1/22,Unknown significance,\N,intron_variant,12.99,\N,\N,ALMS1
441220,2:73626849:T>A,NM_015120.4:c.325-8901T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,13.44,\N,\N,ALMS1
441221,2:73626873:C>T,NM_015120.4:c.325-8877C>T,\N,\N,1/22,Benign,\N,intron_variant,14.06,0.0673,1KG_AFR_AF,ALMS1
441222,2:73626877:T>C,NM_015120.4:c.325-8873T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,15.07,\N,\N,ALMS1
441223,2:73626879:T>G,NM_015120.4:c.325-8871T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,15.79,\N,\N,ALMS1
441224,2:73626922:T>A,NM_015120.4:c.325-8828T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.536,\N,\N,ALMS1
441225,2:73626923:A>G,NM_015120.4:c.325-8827A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.233,0.0015,1KG_AFR_AF,ALMS1
441226,2:73626923:A>T,NM_015120.4:c.325-8827A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.14,\N,\N,ALMS1
441227,2:73626942:C>T,NM_015120.4:c.325-8808C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.492,0.001,1KG_EUR_AF,ALMS1
441228,2:73626945:C>G,NM_015120.4:c.325-8805C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.739,0.001,1KG_SAS_AF,ALMS1
441229,2:73626955:A>G,NM_015120.4:c.325-8795A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.877,\N,\N,ALMS1
441230,2:73626971:C>T,NM_015120.4:c.325-8779C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.524,0.004,1KG_EAS_AF,ALMS1
441231,2:73626972:G>T,NM_015120.4:c.325-8778G>T,\N,\N,1/22,Benign,\N,intron_variant,0.978,0.007,1KG_EUR_AF,ALMS1
441232,2:73626980:G>A,NM_015120.4:c.325-8770G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.622,0.0008,1KG_AFR_AF,ALMS1
441233,2:73626995:T>C,NM_015120.4:c.325-8755T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.566,0.0008,1KG_AFR_AF,ALMS1
441234,2:73627005:G>C,NM_015120.4:c.325-8745G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.345,\N,\N,ALMS1
441235,2:73627034:A>G,NM_015120.4:c.325-8716A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.661,0.001,1KG_EAS_AF,ALMS1
441236,2:73627035:G>C,NM_015120.4:c.325-8715G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.789,0.0023,1KG_AFR_AF,ALMS1
441237,2:73627038:T>G,NM_015120.4:c.325-8712T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.492,0.0008,1KG_AFR_AF,ALMS1
441238,2:73627044:C>T,NM_015120.4:c.325-8706C>T,\N,\N,1/22,Benign,\N,intron_variant,2.709,0.8775,1KG_AFR_AF,ALMS1
441239,2:73627046:T>C,NM_015120.4:c.325-8704T>C,\N,\N,1/22,Benign,\N,intron_variant,1.607,0.1354,1KG_AMR_AF,ALMS1
441240,2:73627048:A>G,NM_015120.4:c.325-8702A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.419,0.004,1KG_EAS_AF,ALMS1
441241,2:73627081:T>G,NM_015120.4:c.325-8669T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.944,\N,\N,ALMS1
441242,2:73627130:A>G,NM_015120.4:c.325-8620A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.524,0.001,1KG_EAS_AF,ALMS1
441243,2:73627148:C>T,NM_015120.4:c.325-8602C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.971,\N,\N,ALMS1
441244,2:73627170:G>A,NM_015120.4:c.325-8580G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.063,\N,\N,ALMS1
441245,2:73627224:C>A,NM_015120.4:c.325-8526C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.725,0.0008,1KG_AFR_AF,ALMS1
441246,2:73627264:G>T,NM_015120.4:c.325-8486G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.179,\N,\N,ALMS1
441247,2:73627268:C>T,NM_015120.4:c.325-8482C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.635,\N,\N,ALMS1
441248,2:73627283:A>G,NM_015120.4:c.325-8467A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.808,\N,\N,ALMS1
441249,2:73627285:G>C,NM_015120.4:c.325-8465G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.22,\N,\N,ALMS1
441250,2:73627287:T>C,NM_015120.4:c.325-8463T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.371,\N,\N,ALMS1
441251,2:73627293:C>T,NM_015120.4:c.325-8457C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.368,\N,\N,ALMS1
441252,2:73627310:G>A,NM_015120.4:c.325-8440G>A,\N,\N,1/22,Benign,\N,intron_variant,13.78,0.0845,1KG_EUR_AF,ALMS1
441253,2:73627322:C>T,NM_015120.4:c.325-8428C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,13.63,0.002,1KG_EAS_AF,ALMS1
441254,2:73627327:G>A,NM_015120.4:c.325-8423G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,11.81,\N,\N,ALMS1
441255,2:73627336:A>G,NM_015120.4:c.325-8414A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.956,0.0031,1KG_SAS_AF,ALMS1
441256,2:73627347:T>TC,NM_015120.4:c.325-8403_325-8402insC,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441257,2:73627407:G>A,NM_015120.4:c.325-8343G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.409,0.0029,1KG_AMR_AF,ALMS1
441258,2:73627453:A>G,NM_015120.4:c.325-8297A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.835,\N,\N,ALMS1
441259,2:73627453:AT>A,NM_015120.4:c.325-8295del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441260,2:73627486:G>T,NM_015120.4:c.325-8264G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.041,0.0008,1KG_AFR_AF,ALMS1
441261,2:73627488:A>G,NM_015120.4:c.325-8262A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.454,0.0045,1KG_AFR_AF,ALMS1
441262,2:73627521:CTGT>C,NM_015120.4:c.325-8224_325-8222del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441263,2:73627546:G>A,NM_015120.4:c.325-8204G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.264,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
441264,2:73627558:T>C,NM_015120.4:c.325-8192T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.671,\N,\N,ALMS1
441265,2:73627569:G>T,NM_015120.4:c.325-8181G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.135,\N,\N,ALMS1
441266,2:73627590:G>A,NM_015120.4:c.325-8160G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,13.98,0.001,1KG_SAS_AF,ALMS1
441267,2:73627610:G>C,NM_015120.4:c.325-8140G>C,\N,\N,1/22,Benign,\N,intron_variant,12.3,0.0189,1KG_AFR_AF,ALMS1
441268,2:73627616:G>A,NM_015120.4:c.325-8134G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,13.39,0.0023,1KG_AFR_AF,ALMS1
441269,2:73627621:C>G,NM_015120.4:c.325-8129C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,14.39,\N,\N,ALMS1
441270,2:73627628:A>G,NM_015120.4:c.325-8122A>G,\N,\N,1/22,Benign,\N,intron_variant,15.33,0.0159,1KG_AFR_AF,ALMS1
441271,2:73627662:G>T,NM_015120.4:c.325-8088G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,11.36,\N,\N,ALMS1
441272,2:73627679:G>A,NM_015120.4:c.325-8071G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.926,0.0014,1KG_AMR_AF,ALMS1
441273,2:73627720:A>G,NM_015120.4:c.325-8030A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.626,0.0008,1KG_AFR_AF,ALMS1
441274,2:73627752:T>C,NM_015120.4:c.325-7998T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.931,0.001,1KG_EAS_AF,ALMS1
441275,2:73627756:C>G,NM_015120.4:c.325-7994C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.263,0.001,1KG_SAS_AF,ALMS1
441276,2:73627770:C>T,NM_015120.4:c.325-7980C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,12,\N,\N,ALMS1
441277,2:73627778:G>T,NM_015120.4:c.325-7972G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.46,0.001,1KG_EAS_AF,ALMS1
441278,2:73627813:C>T,NM_015120.4:c.325-7937C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.068,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
441279,2:73627814:G>A,NM_015120.4:c.325-7936G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.142,\N,\N,ALMS1
441280,2:73627825:C>T,NM_015120.4:c.325-7925C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.77,0.003,1KG_EUR_AF,ALMS1
441281,2:73627832:A>C,NM_015120.4:c.325-7918A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.192,0.001,1KG_SAS_AF,ALMS1
441282,2:73627848:T>C,NM_015120.4:c.325-7902T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.634,\N,\N,ALMS1
441283,2:73627890:A>T,NM_015120.4:c.325-7860A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.533,\N,\N,ALMS1
441284,2:73627898:T>C,NM_015120.4:c.325-7852T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.998,0.001,1KG_EAS_AF,ALMS1
441285,2:73627901:T>C,NM_015120.4:c.325-7849T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.098,0.001,1KG_SAS_AF,ALMS1
441286,2:73627902:G>A,NM_015120.4:c.325-7848G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.753,\N,\N,ALMS1
441287,2:73627926:T>C,NM_015120.4:c.325-7824T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.36,\N,\N,ALMS1
441288,2:73627948:C>G,NM_015120.4:c.325-7802C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.988,\N,\N,ALMS1
441289,2:73627982:C>A,NM_015120.4:c.325-7768C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.801,0.0008,1KG_AFR_AF,ALMS1
441290,2:73628075:C>T,NM_015120.4:c.325-7675C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.33,\N,\N,ALMS1
441291,2:73628083:T>G,NM_015120.4:c.325-7667T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.734,0.0008,1KG_AFR_AF,ALMS1
441292,2:73628106:G>A,NM_015120.4:c.325-7644G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.398,\N,\N,ALMS1
441293,2:73628111:C>T,NM_015120.4:c.325-7639C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.782,\N,\N,ALMS1
441294,2:73628112:G>A,NM_015120.4:c.325-7638G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.021,0.0008,1KG_AFR_AF,ALMS1
441295,2:73628116:C>G,NM_015120.4:c.325-7634C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.249,\N,\N,ALMS1
441296,2:73628308:C>T,NM_015120.4:c.325-7442C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.339,0.001,1KG_EAS_AF,ALMS1
441297,2:73628325:A>AT,NM_015120.4:c.325-7421dup,\N,\N,1/22,Benign,\N,intron_variant,0.265,0.0749,1KG_AFR_AF,ALMS1
441298,2:73628332:C>G,NM_015120.4:c.325-7418C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.562,0.0008,1KG_AFR_AF,ALMS1
441299,2:73628380:T>C,NM_015120.4:c.325-7370T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.912,0.001,1KG_SAS_AF,ALMS1
441300,2:73628388:C>A,NM_015120.4:c.325-7362C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.538,\N,\N,ALMS1
441301,2:73628390:T>C,NM_015120.4:c.325-7360T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.77,\N,\N,ALMS1
441302,2:73628416:C>A,NM_015120.4:c.325-7334C>A,\N,\N,1/22,Benign,\N,intron_variant,2.621,0.0069,1KG_EAS_AF,ALMS1
441303,2:73628427:A>G,NM_015120.4:c.325-7323A>G,\N,\N,1/22,Benign,\N,intron_variant,0.49,0.0143,1KG_SAS_AF,ALMS1
441304,2:73628450:A>T,NM_015120.4:c.325-7300A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.65,\N,\N,ALMS1
441305,2:73628457:A>T,NM_015120.4:c.325-7293A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.064,\N,\N,ALMS1
441306,2:73628487:C>T,NM_015120.4:c.325-7263C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.445,0.004,1KG_EAS_AF,ALMS1
441307,2:73628495:T>C,NM_015120.4:c.325-7255T>C,\N,\N,1/22,Benign,\N,intron_variant,4.316,0.0719,1KG_AFR_AF,ALMS1
441308,2:73628500:T>G,NM_015120.4:c.325-7250T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.479,\N,\N,ALMS1
441309,2:73628523:T>A,NM_015120.4:c.325-7227T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.619,\N,\N,ALMS1
441310,2:73628538:G>A,NM_015120.4:c.325-7212G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.652,\N,\N,ALMS1
441311,2:73628568:G>A,NM_015120.4:c.325-7182G>A,\N,\N,1/22,Benign,\N,intron_variant,1.077,0.1384,1KG_AFR_AF,ALMS1
441312,2:73628574:T>G,NM_015120.4:c.325-7176T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.887,0.0043,1KG_AMR_AF,ALMS1
441313,2:73628590:G>A,NM_015120.4:c.325-7160G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.067,0.001,1KG_SAS_AF,ALMS1
441314,2:73628603:T>C,NM_015120.4:c.325-7147T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.062,0.0008,1KG_AFR_AF,ALMS1
441315,2:73628629:C>G,NM_015120.4:c.325-7121C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.428,0.0008,1KG_AFR_AF,ALMS1
441316,2:73628643:A>G,NM_015120.4:c.325-7107A>G,\N,\N,1/22,Benign,\N,intron_variant,10.16,0.1419,1KG_EAS_AF,ALMS1
441317,2:73628654:G>T,NM_015120.4:c.325-7096G>T,\N,\N,1/22,Benign,\N,intron_variant,10.58,0.0197,1KG_AFR_AF,ALMS1
441318,2:73628675:T>G,NM_015120.4:c.325-7075T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.493,\N,\N,ALMS1
441319,2:73628709:A>G,NM_015120.4:c.325-7041A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.613,\N,\N,ALMS1
441320,2:73628741:A>G,NM_015120.4:c.325-7009A>G,\N,\N,1/22,Benign,\N,intron_variant,1.789,0.005,1KG_EUR_AF,ALMS1
441321,2:73628748:T>G,NM_015120.4:c.325-7002T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.069,0.001,1KG_EAS_AF,ALMS1
441322,2:73628750:G>A,NM_015120.4:c.325-7000G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.442,\N,\N,ALMS1
441323,2:73628765:T>C,NM_015120.4:c.325-6985T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.17,\N,\N,ALMS1
441324,2:73628772:G>A,NM_015120.4:c.325-6978G>A,\N,\N,1/22,Benign,\N,intron_variant,2.176,0.0089,1KG_EUR_AF,ALMS1
441325,2:73628787:C>T,NM_015120.4:c.325-6963C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.306,0.001,1KG_EUR_AF,ALMS1
441326,2:73628797:C>G,NM_015120.4:c.325-6953C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.671,\N,\N,ALMS1
441327,2:73628809:C>CT,NM_015120.4:c.325-6930dup,\N,\N,1/22,Unknown significance,\N,intron_variant,2.491,\N,\N,ALMS1
441328,2:73628809:CTT>C,NM_015120.4:c.325-6931_325-6930del,\N,\N,1/22,Benign,\N,intron_variant,2.659,0.1384,1KG_AFR_AF,ALMS1
441329,2:73628810:T>C,NM_015120.4:c.325-6940T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.035,\N,\N,ALMS1
441330,2:73628819:T>G,NM_015120.4:c.325-6931T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.907,\N,\N,ALMS1
441331,2:73628820:T>G,NM_015120.4:c.325-6930T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.361,\N,\N,ALMS1
441332,2:73628823:G>A,NM_015120.4:c.325-6927G>A,\N,\N,1/22,Benign,\N,intron_variant,0.029,0.0076,1KG_AFR_AF,ALMS1
441333,2:73628854:A>T,NM_015120.4:c.325-6896A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.188,0.0015,1KG_AFR_AF,ALMS1
441334,2:73628869:C>T,NM_015120.4:c.325-6881C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.549,0.0014,1KG_AMR_AF,ALMS1
441335,2:73628886:G>A,NM_015120.4:c.325-6864G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.121,\N,\N,ALMS1
441336,2:73628900:C>T,NM_015120.4:c.325-6850C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.072,0.001,1KG_EAS_AF,ALMS1
441337,2:73628901:G>T,NM_015120.4:c.325-6849G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.086,\N,\N,ALMS1
441338,2:73628920:T>C,NM_015120.4:c.325-6830T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.99,\N,\N,ALMS1
441339,2:73628932:C>T,NM_015120.4:c.325-6818C>T,\N,\N,1/22,Benign,\N,intron_variant,0.921,0.006,1KG_EUR_AF,ALMS1
441340,2:73628938:A>C,NM_015120.4:c.325-6812A>C,\N,\N,1/22,Benign,\N,intron_variant,1.502,0.1471,1KG_EUR_AF,ALMS1
441341,2:73628964:C>G,NM_015120.4:c.325-6786C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.837,0.001,1KG_SAS_AF,ALMS1
441342,2:73628965:C>T,NM_015120.4:c.325-6785C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.317,0.001,1KG_EUR_AF,ALMS1
441343,2:73628978:T>C,NM_015120.4:c.325-6772T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.182,\N,\N,ALMS1
441344,2:73628991:T>C,NM_015120.4:c.325-6759T>C,\N,\N,1/22,Benign,\N,intron_variant,10.05,0.1384,1KG_AFR_AF,ALMS1
441345,2:73629007:A>C,NM_015120.4:c.325-6743A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.162,0.001,1KG_EUR_AF,ALMS1
441346,2:73629024:T>C,NM_015120.4:c.325-6726T>C,\N,\N,1/22,Benign,\N,intron_variant,1.783,0.0061,1KG_AFR_AF,ALMS1
441347,2:73629047:G>T,NM_015120.4:c.325-6703G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,12.62,\N,\N,ALMS1
441348,2:73629126:C>T,NM_015120.4:c.325-6624C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.84,\N,\N,ALMS1
441349,2:73629133:C>A,NM_015120.4:c.325-6617C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.386,0.0008,1KG_AFR_AF,ALMS1
441350,2:73629141:G>A,NM_015120.4:c.325-6609G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.898,0.002,1KG_SAS_AF,ALMS1
441351,2:73629161:T>G,NM_015120.4:c.325-6589T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.537,0.0038,1KG_AFR_AF,ALMS1
441352,2:73629162:A>T,NM_015120.4:c.325-6588A>T,\N,\N,1/22,Benign,\N,intron_variant,5.279,0.0053,1KG_AFR_AF,ALMS1
441353,2:73629162:ATG>A,NM_015120.4:c.325-6573_325-6572del,\N,\N,1/22,Unknown significance,\N,intron_variant,7.055,\N,\N,ALMS1
441354,2:73629175:TGTGA>T,NM_015120.4:c.325-6571_325-6568del,\N,\N,1/22,Unknown significance,\N,intron_variant,6.352,\N,\N,ALMS1
441355,2:73629177:T>TGA,NM_015120.4:c.325-6571_325-6570dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441356,2:73629177:TGA>T,NM_015120.4:c.325-6571_325-6570del,\N,\N,1/22,Benign,\N,intron_variant,6.686,0.4297,1KG_AFR_AF,ALMS1
441357,2:73629179:A>T,NM_015120.4:c.325-6571A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.162,\N,\N,ALMS1
441358,2:73629196:G>A,NM_015120.4:c.325-6554G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.259,\N,\N,ALMS1
441359,2:73629224:A>G,NM_015120.4:c.325-6526A>G,\N,\N,1/22,Benign,\N,intron_variant,0.638,0.0149,1KG_EAS_AF,ALMS1
441360,2:73629237:T>G,NM_015120.4:c.325-6513T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.404,0.0008,1KG_AFR_AF,ALMS1
441361,2:73629245:G>A,NM_015120.4:c.325-6505G>A,\N,\N,1/22,Benign,\N,intron_variant,0.049,0.0227,1KG_AFR_AF,ALMS1
441362,2:73629259:A>G,NM_015120.4:c.325-6491A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.894,0.0008,1KG_AFR_AF,ALMS1
441363,2:73629270:G>A,NM_015120.4:c.325-6480G>A,\N,\N,1/22,Benign,\N,intron_variant,2.261,0.1384,1KG_AFR_AF,ALMS1
441364,2:73629343:G>T,NM_015120.4:c.325-6407G>T,\N,\N,1/22,Benign,\N,intron_variant,5.952,0.0143,1KG_SAS_AF,ALMS1
441365,2:73629378:T>G,NM_015120.4:c.325-6372T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.674,\N,\N,ALMS1
441366,2:73629379:T>G,NM_015120.4:c.325-6371T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.105,0.001,1KG_SAS_AF,ALMS1
441367,2:73629388:T>TTC,NM_015120.4:c.325-6352_325-6351dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441368,2:73629398:CT>C,NM_015120.4:c.325-6331del,\N,\N,1/22,Unknown significance,\N,intron_variant,3.44,\N,\N,ALMS1
441369,2:73629399:T>TC,NM_015120.4:c.325-6351_325-6350insC,\N,\N,1/22,Unknown significance,\N,intron_variant,0.323,\N,\N,ALMS1
441370,2:73629432:C>T,NM_015120.4:c.325-6318C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.543,0.0015,1KG_AFR_AF,ALMS1
441371,2:73629433:G>A,NM_015120.4:c.325-6317G>A,\N,\N,1/22,Benign,\N,intron_variant,0.28,0.0557,1KG_EUR_AF,ALMS1
441372,2:73629436:C>T,NM_015120.4:c.325-6314C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.117,0.0043,1KG_AMR_AF,ALMS1
441373,2:73629482:A>C,NM_015120.4:c.325-6268A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.372,\N,\N,ALMS1
441374,2:73629486:C>T,NM_015120.4:c.325-6264C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.125,0.0008,1KG_AFR_AF,ALMS1
441375,2:73629487:C>T,NM_015120.4:c.325-6263C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,5.753,0.001,1KG_SAS_AF,ALMS1
441376,2:73629495:G>A,NM_015120.4:c.325-6255G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.827,\N,\N,ALMS1
441377,2:73629497:G>A,NM_015120.4:c.325-6253G>A,\N,\N,1/22,Benign,\N,intron_variant,0.14,0.0696,1KG_AFR_AF,ALMS1
441378,2:73629551:A>G,NM_015120.4:c.325-6199A>G,\N,\N,1/22,Benign,\N,intron_variant,12.17,0.0089,1KG_EUR_AF,ALMS1
441379,2:73629583:A>T,NM_015120.4:c.325-6167A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.371,0.0008,1KG_AFR_AF,ALMS1
441380,2:73629591:G>A,NM_015120.4:c.325-6159G>A,\N,\N,1/22,Benign,\N,intron_variant,2.02,0.0378,1KG_AFR_AF,ALMS1
441381,2:73629617:G>A,NM_015120.4:c.325-6133G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.35,0.002,1KG_EUR_AF,ALMS1
441382,2:73629634:T>G,NM_015120.4:c.325-6116T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.62,0.001,1KG_EUR_AF,ALMS1
441383,2:73629646:C>T,NM_015120.4:c.325-6104C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.753,0.0008,1KG_AFR_AF,ALMS1
441384,2:73629650:C>T,NM_015120.4:c.325-6100C>T,\N,\N,1/22,Benign,\N,intron_variant,0.062,0.0149,1KG_EAS_AF,ALMS1
441385,2:73629669:C>T,NM_015120.4:c.325-6081C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.351,0.001,1KG_EAS_AF,ALMS1
441386,2:73629677:C>T,NM_015120.4:c.325-6073C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.044,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
441387,2:73629679:C>T,NM_015120.4:c.325-6071C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.572,0.0014,1KG_AMR_AF,ALMS1
441388,2:73629680:G>A,NM_015120.4:c.325-6070G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.739,\N,\N,ALMS1
441389,2:73629684:A>G,NM_015120.4:c.325-6066A>G,\N,\N,1/22,Benign,\N,intron_variant,2.433,0.134,1KG_AMR_AF,ALMS1
441390,2:73629696:A>G,NM_015120.4:c.325-6054A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.099,0.0008,1KG_AFR_AF,ALMS1
441391,2:73629718:T>C,NM_015120.4:c.325-6032T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.501,\N,\N,ALMS1
441392,2:73629736:A>G,NM_015120.4:c.325-6014A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.907,\N,\N,ALMS1
441393,2:73629811:C>G,NM_015120.4:c.325-5939C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,17.56,\N,\N,ALMS1
441394,2:73629859:A>G,NM_015120.4:c.325-5891A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.91,0.0008,1KG_AFR_AF,ALMS1
441395,2:73629864:A>T,NM_015120.4:c.325-5886A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,12.86,0.0008,1KG_AFR_AF,ALMS1
441396,2:73629895:C>G,NM_015120.4:c.325-5855C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.12,\N,\N,ALMS1
441397,2:73629909:A>G,NM_015120.4:c.325-5841A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.471,\N,\N,ALMS1
441398,2:73629910:T>C,NM_015120.4:c.325-5840T>C,\N,\N,1/22,Benign,\N,intron_variant,4.526,0.0184,1KG_SAS_AF,ALMS1
441399,2:73629914:A>G,NM_015120.4:c.325-5836A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.965,0.001,1KG_SAS_AF,ALMS1
441400,2:73629976:T>C,NM_015120.4:c.325-5774T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.241,0.001,1KG_EAS_AF,ALMS1
441401,2:73629987:G>A,NM_015120.4:c.325-5763G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.027,\N,\N,ALMS1
441402,2:73630060:C>T,NM_015120.4:c.325-5690C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.177,\N,\N,ALMS1
441403,2:73630067:C>A,NM_015120.4:c.325-5683C>A,\N,\N,1/22,Benign,\N,intron_variant,6.676,0.1384,1KG_AFR_AF,ALMS1
441404,2:73630074:G>A,NM_015120.4:c.325-5676G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.614,0.0008,1KG_AFR_AF,ALMS1
441405,2:73630088:A>G,NM_015120.4:c.325-5662A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.215,0.0008,1KG_AFR_AF,ALMS1
441406,2:73630135:T>C,NM_015120.4:c.325-5615T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.204,0.0008,1KG_AFR_AF,ALMS1
441407,2:73630174:A>G,NM_015120.4:c.325-5576A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.654,0.001,1KG_SAS_AF,ALMS1
441408,2:73630196:A>G,NM_015120.4:c.325-5554A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.024,0.001,1KG_EUR_AF,ALMS1
441409,2:73630199:C>G,NM_015120.4:c.325-5551C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.27,\N,\N,ALMS1
441410,2:73630211:T>G,NM_015120.4:c.325-5539T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.06,0.001,1KG_EUR_AF,ALMS1
441411,2:73630215:A>T,NM_015120.4:c.325-5535A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.575,0.0014,1KG_AMR_AF,ALMS1
441412,2:73630218:T>C,NM_015120.4:c.325-5532T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.71,\N,\N,ALMS1
441413,2:73630220:C>G,NM_015120.4:c.325-5530C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.601,\N,\N,ALMS1
441414,2:73630235:A>C,NM_015120.4:c.325-5515A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.052,0.002,1KG_SAS_AF,ALMS1
441415,2:73630238:A>G,NM_015120.4:c.325-5512A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.834,\N,\N,ALMS1
441416,2:73630241:A>G,NM_015120.4:c.325-5509A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.793,\N,\N,ALMS1
441417,2:73630252:G>GTT,NM_015120.4:c.325-5494_325-5493dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441418,2:73630257:T>G,NM_015120.4:c.325-5493T>G,\N,\N,1/22,Benign,\N,intron_variant,8.698,0.0072,1KG_AMR_AF,ALMS1
441419,2:73630273:C>T,NM_015120.4:c.325-5477C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.813,\N,\N,ALMS1
441420,2:73630300:T>C,NM_015120.4:c.325-5450T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,5.557,\N,\N,ALMS1
441421,2:73630307:C>T,NM_015120.4:c.325-5443C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.014,0.001,1KG_SAS_AF,ALMS1
441422,2:73630351:A>G,NM_015120.4:c.325-5399A>G,\N,\N,1/22,Benign,\N,intron_variant,1.214,0.0764,1KG_EAS_AF,ALMS1
441423,2:73630374:T>A,NM_015120.4:c.325-5376T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.153,0.0008,1KG_AFR_AF,ALMS1
441424,2:73630402:T>C,NM_015120.4:c.325-5348T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.664,\N,\N,ALMS1
441425,2:73630416:TTC>T,NM_015120.4:c.325-5332_325-5331del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441426,2:73630420:A>G,NM_015120.4:c.325-5330A>G,\N,\N,1/22,Benign,\N,intron_variant,1.069,0.134,1KG_AMR_AF,ALMS1
441427,2:73630429:T>C,NM_015120.4:c.325-5321T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.532,\N,\N,ALMS1
441428,2:73630439:T>C,NM_015120.4:c.325-5311T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,7.775,0.001,1KG_SAS_AF,ALMS1
441429,2:73630461:C>T,NM_015120.4:c.325-5289C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.523,\N,\N,ALMS1
441430,2:73630467:A>G,NM_015120.4:c.325-5283A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.349,\N,\N,ALMS1
441431,2:73630524:CT>C,NM_015120.4:c.325-5221del,\N,\N,1/22,Unknown significance,\N,intron_variant,2.464,\N,\N,ALMS1
441432,2:73630575:T>C,NM_015120.4:c.325-5175T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,12.67,\N,\N,ALMS1
441433,2:73630580:A>G,NM_015120.4:c.325-5170A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.8,0.002,1KG_EUR_AF,ALMS1
441434,2:73630608:GT>G,NM_015120.4:c.325-5137del,\N,\N,1/22,Benign,\N,intron_variant,13.64,0.0051,1KG_SAS_AF,ALMS1
441435,2:73630610:T>A,NM_015120.4:c.325-5140T>A,\N,\N,1/22,Benign,\N,intron_variant,13.78,0.0051,1KG_SAS_AF,ALMS1
441436,2:73630618:T>C,NM_015120.4:c.325-5132T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,13.01,\N,\N,ALMS1
441437,2:73630628:C>T,NM_015120.4:c.325-5122C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,13.57,\N,\N,ALMS1
441438,2:73630649:T>C,NM_015120.4:c.325-5101T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,14.76,0.0008,1KG_AFR_AF,ALMS1
441439,2:73630714:T>C,NM_015120.4:c.325-5036T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.834,0.0008,1KG_AFR_AF,ALMS1
441440,2:73630715:A>G,NM_015120.4:c.325-5035A>G,\N,\N,1/22,Benign,\N,intron_variant,4.022,0.0113,1KG_AFR_AF,ALMS1
441441,2:73630763:CAATATT>C,NM_015120.4:c.325-4983_325-4978del,\N,\N,1/22,Benign,\N,intron_variant,5.986,0.0249,1KG_EUR_AF,ALMS1
441442,2:73630834:A>G,NM_015120.4:c.325-4916A>G,\N,\N,1/22,Benign,\N,intron_variant,2.455,0.0548,1KG_AMR_AF,ALMS1
441443,2:73630843:G>A,NM_015120.4:c.325-4907G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.522,0.001,1KG_EUR_AF,ALMS1
441444,2:73630844:T>A,NM_015120.4:c.325-4906T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.05,0.001,1KG_EUR_AF,ALMS1
441445,2:73630853:G>A,NM_015120.4:c.325-4897G>A,\N,\N,1/22,Benign,\N,intron_variant,1.208,0.0136,1KG_AFR_AF,ALMS1
441446,2:73630898:T>G,NM_015120.4:c.325-4852T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,16.46,\N,\N,ALMS1
441447,2:73630918:T>C,NM_015120.4:c.325-4832T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,13.79,\N,\N,ALMS1
441448,2:73630920:A>G,NM_015120.4:c.325-4830A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,14.34,0.002,1KG_EUR_AF|1KG_SAS_AF,ALMS1
441449,2:73630991:T>A,NM_015120.4:c.325-4759T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.225,0.003,1KG_AFR_AF,ALMS1
441450,2:73631060:C>T,NM_015120.4:c.325-4690C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.248,\N,\N,ALMS1
441451,2:73631070:C>T,NM_015120.4:c.325-4680C>T,\N,\N,1/22,Benign,\N,intron_variant,3.298,0.0386,1KG_AFR_AF,ALMS1
441452,2:73631090:C>T,NM_015120.4:c.325-4660C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.05,\N,\N,ALMS1
441453,2:73631091:G>A,NM_015120.4:c.325-4659G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.509,\N,\N,ALMS1
441454,2:73631113:C>T,NM_015120.4:c.325-4637C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.858,0.001,1KG_SAS_AF,ALMS1
441455,2:73631120:T>G,NM_015120.4:c.325-4630T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.323,0.0015,1KG_AFR_AF,ALMS1
441456,2:73631150:C>T,NM_015120.4:c.325-4600C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.52,0.0008,1KG_AFR_AF,ALMS1
441457,2:73631151:G>A,NM_015120.4:c.325-4599G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.618,0.002,1KG_EUR_AF,ALMS1
441458,2:73631164:A>T,NM_015120.4:c.325-4586A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.248,0.0008,1KG_AFR_AF,ALMS1
441459,2:73631173:G>A,NM_015120.4:c.325-4577G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.336,0.0014,1KG_AMR_AF,ALMS1
441460,2:73631174:C>T,NM_015120.4:c.325-4576C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.605,0.001,1KG_EUR_AF,ALMS1
441461,2:73631212:G>A,NM_015120.4:c.325-4538G>A,\N,\N,1/22,Benign,\N,intron_variant,4.47,0.4349,1KG_AFR_AF,ALMS1
441462,2:73631232:G>A,NM_015120.4:c.325-4518G>A,\N,\N,1/22,Benign,\N,intron_variant,1.441,0.134,1KG_AMR_AF,ALMS1
441463,2:73631251:T>A,NM_015120.4:c.325-4499T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.099,\N,\N,ALMS1
441464,2:73631273:C>T,NM_015120.4:c.325-4477C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.571,\N,\N,ALMS1
441465,2:73631274:G>A,NM_015120.4:c.325-4476G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.061,\N,\N,ALMS1
441466,2:73631288:A>C,NM_015120.4:c.325-4462A>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.368,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
441467,2:73631324:G>T,NM_015120.4:c.325-4426G>T,\N,\N,1/22,Benign,\N,intron_variant,0.756,0.1248,1KG_AFR_AF,ALMS1
441468,2:73631332:A>G,NM_015120.4:c.325-4418A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.905,0.0008,1KG_AFR_AF,ALMS1
441469,2:73631336:T>C,NM_015120.4:c.325-4414T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.401,0.0041,1KG_SAS_AF,ALMS1
441470,2:73631344:T>C,NM_015120.4:c.325-4406T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.907,\N,\N,ALMS1
441471,2:73631362:G>A,NM_015120.4:c.325-4388G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.38,\N,\N,ALMS1
441472,2:73631397:A>G,NM_015120.4:c.325-4353A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.291,\N,\N,ALMS1
441473,2:73631407:T>C,NM_015120.4:c.325-4343T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.552,\N,\N,ALMS1
441474,2:73631414:C>T,NM_015120.4:c.325-4336C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,4.018,\N,\N,ALMS1
441475,2:73631444:T>C,NM_015120.4:c.325-4306T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.221,0.002,1KG_SAS_AF,ALMS1
441476,2:73631460:G>A,NM_015120.4:c.325-4290G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.096,0.0008,1KG_AFR_AF,ALMS1
441477,2:73631476:G>T,NM_015120.4:c.325-4274G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.717,0.002,1KG_SAS_AF,ALMS1
441478,2:73631479:T>C,NM_015120.4:c.325-4271T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,8.274,\N,\N,ALMS1
441479,2:73631500:A>G,NM_015120.4:c.325-4250A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.179,0.0014,1KG_AMR_AF,ALMS1
441480,2:73631531:A>T,NM_015120.4:c.325-4219A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.41,\N,\N,ALMS1
441481,2:73631546:T>A,NM_015120.4:c.325-4204T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.334,\N,\N,ALMS1
441482,2:73631564:G>A,NM_015120.4:c.325-4186G>A,\N,\N,1/22,Benign,\N,intron_variant,3.243,0.7405,1KG_AFR_AF,ALMS1
441483,2:73631590:T>C,NM_015120.4:c.325-4160T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.721,0.0029,1KG_AMR_AF,ALMS1
441484,2:73631593:TGAC>T,NM_015120.4:c.325-4156_325-4154del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441485,2:73631599:T>C,NM_015120.4:c.325-4151T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.198,\N,\N,ALMS1
441486,2:73631609:T>A,NM_015120.4:c.325-4141T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.631,0.003,1KG_AFR_AF,ALMS1
441487,2:73631610:A>T,NM_015120.4:c.325-4140A>T,\N,\N,1/22,Benign,\N,intron_variant,3.964,0.0083,1KG_AFR_AF,ALMS1
441488,2:73631625:G>A,NM_015120.4:c.325-4125G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.845,\N,\N,ALMS1
441489,2:73631651:G>T,NM_015120.4:c.325-4099G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.811,0.0015,1KG_AFR_AF,ALMS1
441490,2:73631674:G>A,NM_015120.4:c.325-4076G>A,\N,\N,1/22,Benign,\N,intron_variant,7.523,0.0143,1KG_SAS_AF,ALMS1
441491,2:73631682:C>T,NM_015120.4:c.325-4068C>T,\N,\N,1/22,Benign,\N,intron_variant,8.963,0.0149,1KG_EUR_AF,ALMS1
441492,2:73631690:T>A,NM_015120.4:c.325-4060T>A,\N,\N,1/22,Benign,\N,intron_variant,7.71,0.0386,1KG_AFR_AF,ALMS1
441493,2:73631697:G>A,NM_015120.4:c.325-4053G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.515,0.002,1KG_SAS_AF,ALMS1
441494,2:73631726:T>C,NM_015120.4:c.325-4024T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,12.16,\N,\N,ALMS1
441495,2:73631746:C>T,NM_015120.4:c.325-4004C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.852,0.0008,1KG_AFR_AF,ALMS1
441496,2:73631747:G>A,NM_015120.4:c.325-4003G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.445,0.0031,1KG_SAS_AF,ALMS1
441497,2:73631762:A>G,NM_015120.4:c.325-3988A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,4.266,0.0015,1KG_AFR_AF,ALMS1
441498,2:73631779:T>C,NM_015120.4:c.325-3971T>C,\N,\N,1/22,Benign,\N,intron_variant,7.911,0.5741,1KG_AFR_AF,ALMS1
441499,2:73631782:C>T,NM_015120.4:c.325-3968C>T,\N,\N,1/22,Benign,\N,intron_variant,7.995,0.1415,1KG_AFR_AF,ALMS1
441500,2:73631785:A>G,NM_015120.4:c.325-3965A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.96,\N,\N,ALMS1
441501,2:73631837:C>T,NM_015120.4:c.325-3913C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.966,0.001,1KG_EUR_AF,ALMS1
441502,2:73631847:A>G,NM_015120.4:c.325-3903A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.502,0.0008,1KG_AFR_AF,ALMS1
441503,2:73631872:TTGTC>T,NM_015120.4:c.325-3875_325-3872del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441504,2:73631887:A>G,NM_015120.4:c.325-3863A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,2.046,0.001,1KG_SAS_AF,ALMS1
441505,2:73631933:T>A,NM_015120.4:c.325-3817T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.385,0.002,1KG_SAS_AF,ALMS1
441506,2:73631976:C>T,NM_015120.4:c.325-3774C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,14.41,\N,\N,ALMS1
441507,2:73631979:C>G,NM_015120.4:c.325-3771C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,13.7,0.0038,1KG_AFR_AF,ALMS1
441508,2:73631987:G>T,NM_015120.4:c.325-3763G>T,\N,\N,1/22,Benign,\N,intron_variant,10.16,0.007,1KG_EUR_AF,ALMS1
441509,2:73631990:T>A,NM_015120.4:c.325-3760T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,13.59,\N,\N,ALMS1
441510,2:73631998:T>A,NM_015120.4:c.325-3752T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,15.67,\N,\N,ALMS1
441511,2:73632027:C>CTTTTTTT,NM_015120.4:c.325-3699_325-3693dup,\N,\N,1/22,Unknown significance,\N,intron_variant,8.814,\N,\N,ALMS1
441512,2:73632027:CT>C,NM_015120.4:c.325-3693del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441513,2:73632060:G>A,NM_015120.4:c.325-3690G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.265,\N,\N,ALMS1
441514,2:73632096:G>A,NM_015120.4:c.325-3654G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.688,0.0029,1KG_AMR_AF,ALMS1
441515,2:73632126:G>GCC,NM_015120.4:c.325-3622_325-3621dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441516,2:73632149:C>T,NM_015120.4:c.325-3601C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.469,0.001,1KG_EUR_AF,ALMS1
441517,2:73632164:C>G,NM_015120.4:c.325-3586C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.047,0.001,1KG_EAS_AF,ALMS1
441518,2:73632173:G>A,NM_015120.4:c.325-3577G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.424,\N,\N,ALMS1
441519,2:73632183:G>A,NM_015120.4:c.325-3567G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.344,0.002,1KG_EAS_AF,ALMS1
441520,2:73632210:C>T,NM_015120.4:c.325-3540C>T,\N,\N,1/22,Benign,\N,intron_variant,2.025,0.0068,1KG_AFR_AF,ALMS1
441521,2:73632225:A>G,NM_015120.4:c.325-3525A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.449,\N,\N,ALMS1
441522,2:73632226:G>A,NM_015120.4:c.325-3524G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.085,\N,\N,ALMS1
441523,2:73632258:TCTCTAA>T,NM_015120.4:c.325-3488_325-3483del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,0.0014,1KG_AMR_AF,ALMS1
441524,2:73632278:G>C,NM_015120.4:c.325-3472G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.355,0.0008,1KG_AFR_AF,ALMS1
441525,2:73632287:C>T,NM_015120.4:c.325-3463C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.27,\N,\N,ALMS1
441526,2:73632297:C>T,NM_015120.4:c.325-3453C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.256,0.001,1KG_SAS_AF,ALMS1
441527,2:73632333:C>T,NM_015120.4:c.325-3417C>T,\N,\N,1/22,Benign,\N,intron_variant,0.566,0.0219,1KG_AFR_AF,ALMS1
441528,2:73632334:G>A,NM_015120.4:c.325-3416G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.371,\N,\N,ALMS1
441529,2:73632339:G>T,NM_015120.4:c.325-3411G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.74,\N,\N,ALMS1
441530,2:73632425:T>C,NM_015120.4:c.325-3325T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,14.96,0.001,1KG_EAS_AF,ALMS1
441531,2:73632461:A>G,NM_015120.4:c.325-3289A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,11.87,0.0015,1KG_AFR_AF,ALMS1
441532,2:73632487:A>G,NM_015120.4:c.325-3263A>G,\N,\N,1/22,Benign,\N,intron_variant,15.86,0.005,1KG_EAS_AF,ALMS1
441533,2:73632488:A>G,NM_015120.4:c.325-3262A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,16.47,0.0008,1KG_AFR_AF,ALMS1
441534,2:73632523:A>G,NM_015120.4:c.325-3227A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.79,0.004,1KG_EAS_AF,ALMS1
441535,2:73632541:A>G,NM_015120.4:c.325-3209A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.714,0.001,1KG_EAS_AF,ALMS1
441536,2:73632605:C>G,NM_015120.4:c.325-3145C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.312,\N,\N,ALMS1
441537,2:73632662:G>T,NM_015120.4:c.325-3088G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.809,\N,\N,ALMS1
441538,2:73632688:TTTCTA>T,NM_015120.4:c.325-3057_325-3053del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441539,2:73632713:G>C,NM_015120.4:c.325-3037G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.413,\N,\N,ALMS1
441540,2:73632765:A>G,NM_015120.4:c.325-2985A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,11.09,\N,\N,ALMS1
441541,2:73632774:A>T,NM_015120.4:c.325-2976A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.284,0.001,1KG_EAS_AF,ALMS1
441542,2:73632801:AT>A,NM_015120.4:c.325-2938del,\N,\N,1/22,Benign,\N,intron_variant,0.068,0.1354,1KG_AMR_AF,ALMS1
441543,2:73632815:A>T,NM_015120.4:c.325-2935A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.337,\N,\N,ALMS1
441544,2:73632819:A>T,NM_015120.4:c.325-2931A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.714,\N,\N,ALMS1
441545,2:73632839:T>G,NM_015120.4:c.325-2911T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.576,0.001,1KG_EUR_AF,ALMS1
441546,2:73632856:T>C,NM_015120.4:c.325-2894T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.35,\N,\N,ALMS1
441547,2:73632870:A>G,NM_015120.4:c.325-2880A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.983,\N,\N,ALMS1
441548,2:73632899:T>C,NM_015120.4:c.325-2851T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.202,0.0008,1KG_AFR_AF,ALMS1
441549,2:73632951:T>C,NM_015120.4:c.325-2799T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,11.11,0.0031,1KG_SAS_AF,ALMS1
441550,2:73633025:A>T,NM_015120.4:c.325-2725A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.144,0.001,1KG_EAS_AF,ALMS1
441551,2:73633083:G>C,NM_015120.4:c.325-2667G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.157,0.001,1KG_EAS_AF,ALMS1
441552,2:73633107:G>C,NM_015120.4:c.325-2643G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,6.438,0.003,1KG_EAS_AF,ALMS1
441553,2:73633108:A>T,NM_015120.4:c.325-2642A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.703,0.003,1KG_EAS_AF,ALMS1
441554,2:73633148:A>G,NM_015120.4:c.325-2602A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.187,\N,\N,ALMS1
441555,2:73633162:T>A,NM_015120.4:c.325-2588T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.295,0.0029,1KG_AMR_AF,ALMS1
441556,2:73633163:C>G,NM_015120.4:c.325-2587C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.587,\N,\N,ALMS1
441557,2:73633166:A>G,NM_015120.4:c.325-2584A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.669,0.0014,1KG_AMR_AF,ALMS1
441558,2:73633192:T>C,NM_015120.4:c.325-2558T>C,\N,\N,1/22,Benign,\N,intron_variant,9.997,0.0061,1KG_AFR_AF,ALMS1
441559,2:73633207:A>G,NM_015120.4:c.325-2543A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.565,\N,\N,ALMS1
441560,2:73633217:A>G,NM_015120.4:c.325-2533A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.08,0.0045,1KG_AFR_AF,ALMS1
441561,2:73633229:A>G,NM_015120.4:c.325-2521A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.892,\N,\N,ALMS1
441562,2:73633235:G>A,NM_015120.4:c.325-2515G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.462,0.001,1KG_SAS_AF,ALMS1
441563,2:73633270:C>T,NM_015120.4:c.325-2480C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,10.35,0.001,1KG_EUR_AF,ALMS1
441564,2:73633291:C>G,NM_015120.4:c.325-2459C>G,\N,\N,1/22,Benign,\N,intron_variant,10.23,0.0151,1KG_AFR_AF,ALMS1
441565,2:73633292:T>C,NM_015120.4:c.325-2458T>C,\N,\N,1/22,Benign,\N,intron_variant,9.88,0.005,1KG_EUR_AF,ALMS1
441566,2:73633313:A>G,NM_015120.4:c.325-2437A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.149,0.001,1KG_SAS_AF,ALMS1
441567,2:73633380:A>G,NM_015120.4:c.325-2370A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.458,0.0008,1KG_AFR_AF,ALMS1
441568,2:73633417:T>TA,NM_015120.4:c.325-2332dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441569,2:73633429:C>T,NM_015120.4:c.325-2321C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.542,\N,\N,ALMS1
441570,2:73633430:G>A,NM_015120.4:c.325-2320G>A,\N,\N,1/22,Benign,\N,intron_variant,0.351,0.7398,1KG_AFR_AF,ALMS1
441571,2:73633436:G>A,NM_015120.4:c.325-2314G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.714,0.002,1KG_SAS_AF,ALMS1
441572,2:73633501:G>A,NM_015120.4:c.325-2249G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,8.023,0.0008,1KG_AFR_AF,ALMS1
441573,2:73633548:T>A,NM_015120.4:c.325-2202T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,17.19,0.001,1KG_EAS_AF,ALMS1
441574,2:73633560:A>G,NM_015120.4:c.325-2190A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,14.03,0.0008,1KG_AFR_AF,ALMS1
441575,2:73633564:GT>G,NM_015120.4:c.325-2169del,\N,\N,1/22,Benign,\N,intron_variant,11.35,0.1819,1KG_EUR_AF,ALMS1
441576,2:73633570:T>G,NM_015120.4:c.325-2180T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,12.02,0.0014,1KG_AMR_AF,ALMS1
441577,2:73633602:A>G,NM_015120.4:c.325-2148A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.436,\N,\N,ALMS1
441578,2:73633673:A>T,NM_015120.4:c.325-2077A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,11.94,0.0008,1KG_AFR_AF,ALMS1
441579,2:73633695:A>G,NM_015120.4:c.325-2055A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.108,\N,\N,ALMS1
441580,2:73633717:G>A,NM_015120.4:c.325-2033G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.337,\N,\N,ALMS1
441581,2:73633745:C>G,NM_015120.4:c.325-2005C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.318,0.003,1KG_EUR_AF,ALMS1
441582,2:73633885:C>T,NM_015120.4:c.325-1865C>T,\N,\N,1/22,Benign,\N,intron_variant,2.275,0.0102,1KG_SAS_AF,ALMS1
441583,2:73633921:T>C,NM_015120.4:c.325-1829T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.032,\N,\N,ALMS1
441584,2:73633922:G>A,NM_015120.4:c.325-1828G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,0.401,\N,\N,ALMS1
441585,2:73633951:G>A,NM_015120.4:c.325-1799G>A,\N,\N,1/22,Benign,\N,intron_variant,2.5,0.0325,1KG_AFR_AF,ALMS1
441586,2:73633984:A>G,NM_015120.4:c.325-1766A>G,\N,\N,1/22,Benign,\N,intron_variant,7.395,0.8678,1KG_EUR_AF,ALMS1
441587,2:73634001:T>C,NM_015120.4:c.325-1749T>C,\N,\N,1/22,Benign,\N,intron_variant,0.431,0.9438,1KG_AMR_AF,ALMS1
441588,2:73634008:C>A,NM_015120.4:c.325-1742C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.133,0.001,1KG_EUR_AF,ALMS1
441589,2:73634025:T>G,NM_015120.4:c.325-1725T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.235,\N,\N,ALMS1
441590,2:73634035:G>A,NM_015120.4:c.325-1715G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.926,0.002,1KG_EAS_AF,ALMS1
441591,2:73634042:C>T,NM_015120.4:c.325-1708C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.298,\N,\N,ALMS1
441592,2:73634043:G>A,NM_015120.4:c.325-1707G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.07,0.0008,1KG_AFR_AF,ALMS1
441593,2:73634054:A>G,NM_015120.4:c.325-1696A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.384,\N,\N,ALMS1
441594,2:73634057:T>G,NM_015120.4:c.325-1693T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.278,0.001,1KG_SAS_AF,ALMS1
441595,2:73634088:G>C,NM_015120.4:c.325-1662G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,13.81,\N,\N,ALMS1
441596,2:73634102:A>G,NM_015120.4:c.325-1648A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,16.69,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
441597,2:73634121:C>A,NM_015120.4:c.325-1629C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,16.35,0.0014,1KG_AMR_AF,ALMS1
441598,2:73634136:C>A,NM_015120.4:c.325-1614C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,17.52,\N,\N,ALMS1
441599,2:73634226:G>T,NM_015120.4:c.325-1524G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,16.22,0.0014,1KG_AMR_AF,ALMS1
441600,2:73634294:T>G,NM_015120.4:c.325-1456T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,15.92,\N,\N,ALMS1
441601,2:73634321:A>T,NM_015120.4:c.325-1429A>T,\N,\N,1/22,Benign,\N,intron_variant,2.624,0.0219,1KG_AFR_AF,ALMS1
441602,2:73634387:C>G,NM_015120.4:c.325-1363C>G,\N,\N,1/22,Benign,\N,intron_variant,2.576,0.1009,1KG_AMR_AF,ALMS1
441603,2:73634391:C>A,NM_015120.4:c.325-1359C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.976,\N,\N,ALMS1
441604,2:73634396:C>T,NM_015120.4:c.325-1354C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.282,0.002,1KG_SAS_AF,ALMS1
441605,2:73634404:C>T,NM_015120.4:c.325-1346C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.466,0.001,1KG_EAS_AF,ALMS1
441606,2:73634416:C>T,NM_015120.4:c.325-1334C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.313,0.0015,1KG_AFR_AF,ALMS1
441607,2:73634420:C>T,NM_015120.4:c.325-1330C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,8.067,\N,\N,ALMS1
441608,2:73634435:C>A,NM_015120.4:c.325-1315C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.478,\N,\N,ALMS1
441609,2:73634519:C>T,NM_015120.4:c.325-1231C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,7.877,\N,\N,ALMS1
441610,2:73634551:A>G,NM_015120.4:c.325-1199A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,7.265,0.0015,1KG_AFR_AF,ALMS1
441611,2:73634567:T>C,NM_015120.4:c.325-1183T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,10.41,\N,\N,ALMS1
441612,2:73634572:A>G,NM_015120.4:c.325-1178A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.3,0.0008,1KG_AFR_AF,ALMS1
441613,2:73634573:A>G,NM_015120.4:c.325-1177A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.47,0.0014,1KG_AMR_AF,ALMS1
441614,2:73634579:A>T,NM_015120.4:c.325-1171A>T,\N,\N,1/22,Unknown significance,\N,intron_variant,3.879,0.001,1KG_EUR_AF,ALMS1
441615,2:73634602:T>C,NM_015120.4:c.325-1148T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,1.77,\N,\N,ALMS1
441616,2:73634617:G>A,NM_015120.4:c.325-1133G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.376,0.0023,1KG_AFR_AF,ALMS1
441617,2:73634620:G>GT,NM_015120.4:c.325-1128dup,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441618,2:73634622:T>C,NM_015120.4:c.325-1128T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,4.968,0.001,1KG_EUR_AF,ALMS1
441619,2:73634622:T>TA,NM_015120.4:c.325-1127dup,\N,\N,1/22,Benign,\N,intron_variant,4.08,0.4342,1KG_AFR_AF,ALMS1
441620,2:73634644:GT>G,NM_015120.4:c.325-1101del,\N,\N,1/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441621,2:73634664:A>G,NM_015120.4:c.325-1086A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.508,0.0014,1KG_AMR_AF,ALMS1
441622,2:73634686:T>C,NM_015120.4:c.325-1064T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,9.063,0.002,1KG_EUR_AF,ALMS1
441623,2:73634697:A>G,NM_015120.4:c.325-1053A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,8.936,\N,\N,ALMS1
441624,2:73634731:T>G,NM_015120.4:c.325-1019T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,14.68,\N,\N,ALMS1
441625,2:73634736:T>C,NM_015120.4:c.325-1014T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,14.93,0.0041,1KG_SAS_AF,ALMS1
441626,2:73634801:GT>G,NM_015120.4:c.325-948del,\N,\N,1/22,Benign,\N,intron_variant,13.38,0.0136,1KG_AFR_AF,ALMS1
441627,2:73634820:C>T,NM_015120.4:c.325-930C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,9.998,0.001,1KG_SAS_AF,ALMS1
441628,2:73634865:TA>T,NM_015120.4:c.325-884del,\N,\N,1/22,Unknown significance,\N,intron_variant,6.028,0.0015,1KG_AFR_AF,ALMS1
441629,2:73634868:T>G,NM_015120.4:c.325-882T>G,\N,\N,1/22,Benign,\N,intron_variant,4.345,0.0726,1KG_AFR_AF,ALMS1
441630,2:73634874:C>G,NM_015120.4:c.325-876C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.236,\N,\N,ALMS1
441631,2:73634875:G>A,NM_015120.4:c.325-875G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,1.65,\N,\N,ALMS1
441632,2:73634886:A>G,NM_015120.4:c.325-864A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.904,\N,\N,ALMS1
441633,2:73634940:C>A,NM_015120.4:c.325-810C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,4.694,0.0008,1KG_AFR_AF,ALMS1
441634,2:73634964:G>A,NM_015120.4:c.325-786G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.185,0.0023,1KG_AFR_AF,ALMS1
441635,2:73634996:T>C,NM_015120.4:c.325-754T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.759,\N,\N,ALMS1
441636,2:73634997:G>A,NM_015120.4:c.325-753G>A,\N,\N,1/22,Benign,\N,intron_variant,1.853,0.0787,1KG_AFR_AF,ALMS1
441637,2:73635022:T>A,NM_015120.4:c.325-728T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,7.562,\N,\N,ALMS1
441638,2:73635030:T>G,NM_015120.4:c.325-720T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,10.52,\N,\N,ALMS1
441639,2:73635042:A>G,NM_015120.4:c.325-708A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,9.23,\N,\N,ALMS1
441640,2:73635054:C>T,NM_015120.4:c.325-696C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.657,0.0008,1KG_AFR_AF,ALMS1
441641,2:73635070:G>A,NM_015120.4:c.325-680G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,6.745,\N,\N,ALMS1
441642,2:73635075:AT>A,NM_015120.4:c.325-665del,\N,\N,1/22,Unknown significance,\N,intron_variant,7.53,\N,\N,ALMS1
441643,2:73635115:C>G,NM_015120.4:c.325-635C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,0.731,0.002,1KG_SAS_AF,ALMS1
441644,2:73635132:T>A,NM_015120.4:c.325-618T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,3.531,\N,\N,ALMS1
441645,2:73635143:T>G,NM_015120.4:c.325-607T>G,\N,\N,1/22,Benign,\N,intron_variant,3.093,0.0099,1KG_EUR_AF,ALMS1
441646,2:73635148:G>A,NM_015120.4:c.325-602G>A,\N,\N,1/22,Benign,\N,intron_variant,2.094,0.674,1KG_AFR_AF,ALMS1
441647,2:73635155:C>T,NM_015120.4:c.325-595C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,1.297,0.001,1KG_SAS_AF,ALMS1
441648,2:73635227:C>G,NM_015120.4:c.325-523C>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.942,0.0008,1KG_AFR_AF,ALMS1
441649,2:73635291:A>G,NM_015120.4:c.325-459A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.473,0.0008,1KG_AFR_AF,ALMS1
441650,2:73635301:C>T,NM_015120.4:c.325-449C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,2.911,0.0014,1KG_AMR_AF,ALMS1
441651,2:73635304:C>G,NM_015120.4:c.325-446C>G,\N,\N,1/22,Benign,\N,intron_variant,1.139,0.8668,1KG_EUR_AF,ALMS1
441652,2:73635375:C>A,NM_015120.4:c.325-375C>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.94,0.0014,1KG_AMR_AF,ALMS1
441653,2:73635455:T>A,NM_015120.4:c.325-295T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,5.827,\N,\N,ALMS1
441654,2:73635492:T>G,NM_015120.4:c.325-258T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,14,0.0014,1KG_AMR_AF,ALMS1
441655,2:73635513:T>A,NM_015120.4:c.325-237T>A,\N,\N,1/22,Unknown significance,\N,intron_variant,11.99,\N,\N,ALMS1
441656,2:73635547:G>T,NM_015120.4:c.325-203G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.45,\N,\N,ALMS1
441657,2:73635595:G>A,NM_015120.4:c.325-155G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,10.57,\N,\N,ALMS1
441658,2:73635633:C>T,NM_015120.4:c.325-117C>T,\N,\N,1/22,Unknown significance,\N,intron_variant,6.77,0.001,1KG_EUR_AF,ALMS1
441659,2:73635648:G>A,NM_015120.4:c.325-102G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,9.081,0.001,1KG_EAS_AF,ALMS1
441660,2:73635661:G>T,NM_015120.4:c.325-89G>T,\N,\N,1/22,Unknown significance,\N,intron_variant,0.955,\N,\N,ALMS1
441661,2:73635685:T>G,NM_015120.4:c.325-65T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.312,0.001,1KG_EUR_AF,ALMS1
441662,2:73635701:T>C,NM_015120.4:c.325-49T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,2.762,0.0000980008,EXAC_AMR_AF,ALMS1
441663,2:73635703:A>G,NM_015120.4:c.325-47A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,1.371,\N,\N,ALMS1
441664,2:73635705:A>AGT,NM_015120.4:c.325-43_325-42dup,\N,\N,1/22,Unknown significance,\N,intron_variant,0.46,\N,\N,ALMS1
441665,2:73635706:G>A,NM_015120.4:c.325-44G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.888,0.0000645995,EXAC_SAS_AF,ALMS1
441666,2:73635706:G>C,NM_015120.4:c.325-44G>C,\N,\N,1/22,Unknown significance,\N,intron_variant,0.661,0.000131441,EXAC_EAS_AF,ALMS1
441667,2:73635711:T>C,NM_015120.4:c.325-39T>C,\N,\N,1/22,Unknown significance,\N,intron_variant,3.177,0.0000170987,EXAC_NFE_AF,ALMS1
441668,2:73635714:G>A,NM_015120.4:c.325-36G>A,\N,\N,1/22,Unknown significance,\N,intron_variant,2.482,0.0001287,EXAC_SAS_AF,ALMS1
441669,2:73635715:TTATTACTC>T,NM_015120.4:c.325-30_325-23del,\N,\N,1/22,Unknown significance,\N,intron_variant,8.691,\N,\N,ALMS1
441670,2:73635716:T>G,NM_015120.4:c.325-34T>G,\N,\N,1/22,Unknown significance,\N,intron_variant,5.101,0.0000170259,EXAC_NFE_AF,ALMS1
441671,2:73635720:A>G,NM_015120.4:c.325-30A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,3.809,0.0014,1KG_AMR_AF,ALMS1
441672,2:73635725:A>G,NM_015120.4:c.325-25A>G,\N,\N,1/22,Unknown significance,\N,intron_variant,6.253,0.000383338,EXAC_EAS_AF,ALMS1
441673,2:73635742:A>AT,NM_015120.4:c.325-4dup,\N,\N,1/22,Unknown significance,\N,splice_region_variant&intron_variant,7.875,0.0000156804,EXAC_NFE_AF,ALMS1
441674,2:73635742:A>C,NM_015120.4:c.325-8A>C,\N,\N,1/22,Unknown significance,\N,splice_region_variant&intron_variant,9.879,0.000121892,EVS_EA_AF,ALMS1
441675,2:73635742:A>G,NM_015120.4:c.325-8A>G,\N,\N,1/22,Unknown significance,\N,splice_region_variant&intron_variant,11.18,\N,\N,ALMS1
441676,2:73635744:T>C,NM_015120.4:c.325-6T>C,\N,\N,1/22,Unknown significance,\N,splice_region_variant&intron_variant,11.71,0.0000894134,EXAC_AMR_AF,ALMS1
441677,2:73635749:G>T,NM_015120.4:c.325-1G>T,\N,\N,1/22,Unknown significance,\N,splice_acceptor_variant,24.3,\N,\N,ALMS1
441678,2:73635750:A>G,NM_015120.4:c.325A>G,NP_055935.4:p.Ile110Val,2/23,\N,Likely benign,\N,missense_variant&splice_region_variant,0.019,0.000103263,EXAC_AFR_AF,ALMS1
441679,2:73635755:TC>T,NM_015120.4:c.332del,NP_055935.4:p.Pro112HisfsTer2,2/23,\N,Unknown significance,\N,frameshift_variant,33,0.0000152709,EXAC_NFE_AF,ALMS1
441680,2:73635756:C>G,NM_015120.4:c.331C>G,NP_055935.4:p.Pro112Ala,2/23,\N,Unknown significance,\N,missense_variant,24.9,0.00146449,EXAC_SAS_AF,ALMS1
441681,2:73635768:C>T,NM_015120.4:c.343C>T,NP_055935.4:p.His116Tyr,2/23,\N,Likely benign,\N,missense_variant,18.18,0.000182216,EXAC_SAS_AF,ALMS1
441682,2:73635769:A>G,NM_015120.4:c.344A>G,NP_055935.4:p.His116Arg,2/23,\N,Likely benign,\N,missense_variant,2.278,0.000102291,EXAC_AFR_AF,ALMS1
441683,2:73635771:G>T,NM_015120.4:c.346G>T,NP_055935.4:p.Val117Leu,2/23,\N,Likely benign,\N,missense_variant,12.84,0.0000607017,EXAC_SAS_AF,ALMS1
441684,2:73635777:C>G,NM_015120.4:c.352C>G,NP_055935.4:p.Gln119Glu,2/23,\N,Likely benign,\N,missense_variant,18.29,0.000102166,EXAC_AFR_AF,ALMS1
441685,2:73635779:A>G,NM_015120.4:c.354A>G,NP_055935.4:p.Gln119=,2/23,\N,Unknown significance,\N,synonymous_variant,0.214,\N,\N,ALMS1
441686,2:73635780:C>T,NM_015120.4:c.355C>T,NP_055935.4:p.Gln120Ter,2/23,\N,Unknown significance,\N,stop_gained,35,0.0000451386,EXAC_NFE_AF,ALMS1
441687,2:73635781:A>G,NM_015120.4:c.356A>G,NP_055935.4:p.Gln120Arg,2/23,\N,Unknown significance,\N,missense_variant,12.81,0.00081716,EXAC_AFR_AF,ALMS1
441688,2:73635784:T>TAGTA,NM_015120.4:c.360_363dup,NP_055935.4:p.Tyr123SerfsTer6,2/23,\N,Unknown significance,\N,frameshift_variant,23,\N,\N,ALMS1
441689,2:73635790:A>G,NM_015120.4:c.365A>G,NP_055935.4:p.Tyr123Cys,2/23,\N,Likely benign,\N,missense_variant,18.39,0.0000450613,EXAC_NFE_AF,ALMS1
441690,2:73635799:A>G,NM_015120.4:c.374A>G,NP_055935.4:p.Asn126Ser,2/23,\N,Likely benign,\N,missense_variant,1.962,0.0000300147,EXAC_NFE_AF,ALMS1
441691,2:73635799:ATAG>A,NM_015120.4:c.378_380del,NP_055935.4:p.Ser127del,2/23,\N,Unknown significance,\N,inframe_deletion,11.19,0.0000300147,EXAC_NFE_AF,ALMS1
441692,2:73635808:C>G,NM_015120.4:c.383C>G,NP_055935.4:p.Thr129Arg,2/23,\N,Likely benign,\N,missense_variant,13.95,\N,\N,ALMS1
441693,2:73635812:A>C,NM_015120.4:c.387A>C,NP_055935.4:p.Gln130His,2/23,\N,Likely benign,\N,missense_variant,8.404,0.0000149988,EXAC_NFE_AF,ALMS1
441694,2:73635817:C>A,NM_015120.4:c.392C>A,NP_055935.4:p.Ser132Tyr,2/23,\N,Unknown significance,\N,missense_variant,23.8,0.0000605694,EXAC_SAS_AF,ALMS1
441695,2:73635825:A>G,NM_015120.4:c.400A>G,NP_055935.4:p.Asn135Asp,2/23,\N,Likely benign,\N,missense_variant,10.27,0.0000149957,EXAC_NFE_AF,ALMS1
441696,2:73635847:C>T,NM_015120.4:c.422C>T,NP_055935.4:p.Thr142Ile,2/23,\N,Likely benign,\N,missense_variant,0.505,0.00010202,EXAC_AFR_AF,ALMS1
441697,2:73635852:C>T,NM_015120.4:c.427C>T,NP_055935.4:p.Gln144Ter,2/23,\N,Unknown significance,\N,stop_gained,28.7,0.001,1KG_EAS_AF,ALMS1
441698,2:73635854:G>A,NM_015120.4:c.429G>A,NP_055935.4:p.Gln144=,2/23,\N,Unknown significance,\N,synonymous_variant,0.216,\N,\N,ALMS1
441699,2:73635854:G>T,NM_015120.4:c.429G>T,NP_055935.4:p.Gln144His,2/23,\N,Likely benign,\N,missense_variant,13.49,0.0008,1KG_AFR_AF,ALMS1
441700,2:73635855:C>T,NM_015120.4:c.430C>T,NP_055935.4:p.Arg145Trp,2/23,\N,Likely benign,\N,missense_variant,0.711,0.000346921,EXAC_AMR_AF,ALMS1
441701,2:73635857:G>A,NM_015120.4:c.432G>A,NP_055935.4:p.Arg145=,2/23,\N,Unknown significance,\N,synonymous_variant,1.97,0.0000299778,EXAC_NFE_AF,ALMS1
441702,2:73635860:T>C,NM_015120.4:c.435T>C,NP_055935.4:p.Gly146=,2/23,\N,Unknown significance,\N,synonymous_variant,0.021,0.001,1KG_EAS_AF,ALMS1
441703,2:73635867:G>A,NM_015120.4:c.442G>A,NP_055935.4:p.Asp149Asn,2/23,\N,Likely benign,\N,missense_variant,17.4,0.000104922,EXAC_NFE_AF,ALMS1
441704,2:73635872:T>A,NM_015120.4:c.447T>A,NP_055935.4:p.Asp150Glu,2/23,\N,Unknown significance,\N,missense_variant,22.9,0.000060562,EXAC_SAS_AF,ALMS1
441705,2:73635882:C>A,NM_015120.4:c.450+7C>A,\N,\N,2/22,Unknown significance,\N,splice_region_variant&intron_variant,13.3,0.000121124,EXAC_SAS_AF,ALMS1
441706,2:73635883:T>C,NM_015120.4:c.450+8T>C,\N,\N,2/22,Unknown significance,\N,splice_region_variant&intron_variant,9.949,0.000060562,EXAC_SAS_AF,ALMS1
441707,2:73635886:T>C,NM_015120.4:c.450+11T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,4.632,0.00010202,EXAC_AFR_AF,ALMS1
441708,2:73635890:A>G,NM_015120.4:c.450+15A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,6.391,0.0000149912,EXAC_NFE_AF,ALMS1
441709,2:73635894:GCTAA>G,NM_015120.4:c.450+22_450+25del,\N,\N,2/22,Unknown significance,\N,intron_variant,4.672,\N,\N,ALMS1
441710,2:73635895:C>T,NM_015120.4:c.450+20C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.646,0.000757117,EXAC_FIN_AF,ALMS1
441711,2:73635899:C>CT,NM_015120.4:c.450+35dup,\N,\N,2/22,Unknown significance,\N,intron_variant,3.234,\N,\N,ALMS1
441712,2:73635899:CT>C,NM_015120.4:c.450+35del,\N,\N,2/22,Unknown significance,\N,intron_variant,3.755,\N,\N,ALMS1
441713,2:73635899:CTT>C,NM_015120.4:c.450+34_450+35del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441714,2:73635899:CTTT>C,NM_015120.4:c.450+33_450+35del,\N,\N,2/22,Unknown significance,\N,intron_variant,5.131,\N,\N,ALMS1
441715,2:73635900:T>C,NM_015120.4:c.450+25T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.082,0.000237304,EXAC_EAS_AF,ALMS1
441716,2:73635903:T>A,NM_015120.4:c.450+28T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.049,0.0000867604,EXAC_AMR_AF,ALMS1
441717,2:73635911:G>A,NM_015120.4:c.450+36G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.098,0.000151607,EXAC_FIN_AF,ALMS1
441718,2:73635915:A>G,NM_015120.4:c.450+40A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.581,0.0000600006,EXAC_NFE_AF,ALMS1
441719,2:73635919:G>A,NM_015120.4:c.450+44G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.028,0.000060562,EXAC_SAS_AF,ALMS1
441720,2:73635929:T>C,NM_015120.4:c.450+54T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,8.777,\N,\N,ALMS1
441721,2:73635957:A>G,NM_015120.4:c.450+82A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.391,\N,\N,ALMS1
441722,2:73635977:A>G,NM_015120.4:c.450+102A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.141,0.001,1KG_EUR_AF,ALMS1
441723,2:73635986:TCTTGTC>T,NM_015120.4:c.450+112_450+117del,\N,\N,2/22,Unknown significance,\N,intron_variant,1.991,\N,\N,ALMS1
441724,2:73635987:C>T,NM_015120.4:c.450+112C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.491,\N,\N,ALMS1
441725,2:73635989:TGTC>T,NM_015120.4:c.450+115_450+117del,\N,\N,2/22,Unknown significance,\N,intron_variant,1.148,\N,\N,ALMS1
441726,2:73635990:G>T,NM_015120.4:c.450+115G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.121,\N,\N,ALMS1
441727,2:73635991:T>G,NM_015120.4:c.450+116T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.909,\N,\N,ALMS1
441728,2:73635992:C>T,NM_015120.4:c.450+117C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.278,\N,\N,ALMS1
441729,2:73635992:CT>C,NM_015120.4:c.450+143del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441730,2:73636019:A>AT,NM_015120.4:c.450+144_450+145insT,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441731,2:73636049:G>A,NM_015120.4:c.450+174G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.766,0.0014,1KG_AMR_AF,ALMS1
441732,2:73636060:G>C,NM_015120.4:c.450+185G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.094,0.0015,1KG_AFR_AF,ALMS1
441733,2:73636072:C>T,NM_015120.4:c.450+197C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.956,\N,\N,ALMS1
441734,2:73636079:C>CTGT,NM_015120.4:c.450+204_450+205insTGT,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441735,2:73636083:C>T,NM_015120.4:c.450+208C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.455,0.001,1KG_SAS_AF,ALMS1
441736,2:73636151:C>T,NM_015120.4:c.450+276C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.765,0.0008,1KG_AFR_AF,ALMS1
441737,2:73636166:A>G,NM_015120.4:c.450+291A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.807,0.001,1KG_EUR_AF,ALMS1
441738,2:73636181:A>G,NM_015120.4:c.450+306A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.404,\N,\N,ALMS1
441739,2:73636182:T>A,NM_015120.4:c.450+307T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.052,0.002,1KG_EUR_AF,ALMS1
441740,2:73636201:C>T,NM_015120.4:c.450+326C>T,\N,\N,2/22,Benign,\N,intron_variant,0.084,0.0386,1KG_AFR_AF,ALMS1
441741,2:73636203:C>T,NM_015120.4:c.450+328C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.366,0.001,1KG_SAS_AF,ALMS1
441742,2:73636232:T>C,NM_015120.4:c.450+357T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,6.788,\N,\N,ALMS1
441743,2:73636244:A>G,NM_015120.4:c.450+369A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,5.665,\N,\N,ALMS1
441744,2:73636250:C>T,NM_015120.4:c.450+375C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.43,\N,\N,ALMS1
441745,2:73636253:C>T,NM_015120.4:c.450+378C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.733,0.0008,1KG_AFR_AF,ALMS1
441746,2:73636298:T>C,NM_015120.4:c.450+423T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.232,0.001,1KG_EUR_AF,ALMS1
441747,2:73636300:G>C,NM_015120.4:c.450+425G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.118,0.001,1KG_EUR_AF,ALMS1
441748,2:73636313:A>G,NM_015120.4:c.450+438A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,9.948,0.001,1KG_EAS_AF,ALMS1
441749,2:73636325:G>C,NM_015120.4:c.450+450G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.756,\N,\N,ALMS1
441750,2:73636327:T>C,NM_015120.4:c.450+452T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.791,0.0008,1KG_AFR_AF,ALMS1
441751,2:73636328:T>C,NM_015120.4:c.450+453T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.334,0.0014,1KG_AMR_AF,ALMS1
441752,2:73636339:T>A,NM_015120.4:c.450+464T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.592,\N,\N,ALMS1
441753,2:73636392:C>A,NM_015120.4:c.450+517C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.201,\N,\N,ALMS1
441754,2:73636406:T>C,NM_015120.4:c.450+531T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.373,\N,\N,ALMS1
441755,2:73636429:A>G,NM_015120.4:c.450+554A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.753,\N,\N,ALMS1
441756,2:73636455:G>A,NM_015120.4:c.450+580G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.588,\N,\N,ALMS1
441757,2:73636458:C>T,NM_015120.4:c.450+583C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.661,0.002,1KG_EAS_AF,ALMS1
441758,2:73636467:C>T,NM_015120.4:c.450+592C>T,\N,\N,2/22,Benign,\N,intron_variant,2.627,0.0072,1KG_SAS_AF,ALMS1
441759,2:73636533:G>A,NM_015120.4:c.450+658G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.568,\N,\N,ALMS1
441760,2:73636545:G>A,NM_015120.4:c.450+670G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,10.78,0.001,1KG_SAS_AF,ALMS1
441761,2:73636576:G>C,NM_015120.4:c.450+701G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,14.44,0.002,1KG_EAS_AF,ALMS1
441762,2:73636584:G>A,NM_015120.4:c.450+709G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,15.14,0.001,1KG_EAS_AF,ALMS1
441763,2:73636601:A>G,NM_015120.4:c.450+726A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,16.16,\N,\N,ALMS1
441764,2:73636613:A>G,NM_015120.4:c.450+738A>G,\N,\N,2/22,Benign,\N,intron_variant,16.06,0.0386,1KG_AFR_AF,ALMS1
441765,2:73636627:T>G,NM_015120.4:c.450+752T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,16.92,\N,\N,ALMS1
441766,2:73636697:T>C,NM_015120.4:c.450+822T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,7.291,\N,\N,ALMS1
441767,2:73636705:A>G,NM_015120.4:c.450+830A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,11.08,0.0008,1KG_AFR_AF,ALMS1
441768,2:73636725:C>T,NM_015120.4:c.450+850C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,12.68,\N,\N,ALMS1
441769,2:73636768:C>T,NM_015120.4:c.450+893C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.179,\N,\N,ALMS1
441770,2:73636779:A>G,NM_015120.4:c.450+904A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.395,0.0043,1KG_AMR_AF,ALMS1
441771,2:73636784:A>T,NM_015120.4:c.450+909A>T,\N,\N,2/22,Benign,\N,intron_variant,1.243,0.0072,1KG_AMR_AF,ALMS1
441772,2:73636817:C>A,NM_015120.4:c.450+942C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,5.987,\N,\N,ALMS1
441773,2:73636873:T>C,NM_015120.4:c.450+998T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.195,0.0015,1KG_AFR_AF,ALMS1
441774,2:73636882:A>G,NM_015120.4:c.450+1007A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.458,0.0014,1KG_AMR_AF,ALMS1
441775,2:73636928:A>G,NM_015120.4:c.450+1053A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.002,0.002,1KG_EAS_AF,ALMS1
441776,2:73636928:A>T,NM_015120.4:c.450+1053A>T,\N,\N,2/22,Benign,\N,intron_variant,1.057,0.1241,1KG_AFR_AF,ALMS1
441777,2:73636939:G>T,NM_015120.4:c.450+1064G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.058,\N,\N,ALMS1
441778,2:73636948:A>G,NM_015120.4:c.450+1073A>G,\N,\N,2/22,Benign,\N,intron_variant,11.61,0.1383,1KG_AMR_AF,ALMS1
441779,2:73636971:G>A,NM_015120.4:c.450+1096G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,12.34,0.0008,1KG_AFR_AF,ALMS1
441780,2:73636984:A>G,NM_015120.4:c.450+1109A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.853,0.001,1KG_EUR_AF,ALMS1
441781,2:73637007:G>T,NM_015120.4:c.450+1132G>T,\N,\N,2/22,Benign,\N,intron_variant,0.324,0.0072,1KG_SAS_AF,ALMS1
441782,2:73637016:C>T,NM_015120.4:c.450+1141C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.33,\N,\N,ALMS1
441783,2:73637103:T>C,NM_015120.4:c.450+1228T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.594,0.001,1KG_EAS_AF,ALMS1
441784,2:73637140:A>C,NM_015120.4:c.450+1265A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.574,0.0043,1KG_AMR_AF,ALMS1
441785,2:73637141:A>G,NM_015120.4:c.450+1266A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.227,0.002,1KG_EUR_AF,ALMS1
441786,2:73637214:C>A,NM_015120.4:c.450+1339C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.743,0.0014,1KG_AMR_AF,ALMS1
441787,2:73637220:C>T,NM_015120.4:c.450+1345C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,4.447,\N,\N,ALMS1
441788,2:73637222:T>C,NM_015120.4:c.450+1347T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.678,\N,\N,ALMS1
441789,2:73637250:C>CT,NM_015120.4:c.450+1376dup,\N,\N,2/22,Benign,\N,intron_variant,4.757,0.0068,1KG_AFR_AF,ALMS1
441790,2:73637257:C>T,NM_015120.4:c.450+1382C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.778,\N,\N,ALMS1
441791,2:73637266:C>T,NM_015120.4:c.450+1391C>T,\N,\N,2/22,Benign,\N,intron_variant,8.931,0.0121,1KG_AFR_AF,ALMS1
441792,2:73637299:C>T,NM_015120.4:c.450+1424C>T,\N,\N,2/22,Benign,\N,intron_variant,4.398,0.006,1KG_EAS_AF,ALMS1
441793,2:73637332:C>T,NM_015120.4:c.450+1457C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.542,0.0023,1KG_AFR_AF,ALMS1
441794,2:73637333:A>G,NM_015120.4:c.450+1458A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.164,\N,\N,ALMS1
441795,2:73637350:C>G,NM_015120.4:c.450+1475C>G,\N,\N,2/22,Benign,\N,intron_variant,0.121,0.0681,1KG_AFR_AF,ALMS1
441796,2:73637359:A>G,NM_015120.4:c.450+1484A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.773,0.001,1KG_EAS_AF,ALMS1
441797,2:73637367:A>G,NM_015120.4:c.450+1492A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.891,\N,\N,ALMS1
441798,2:73637378:G>A,NM_015120.4:c.450+1503G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.917,\N,\N,ALMS1
441799,2:73637401:C>T,NM_015120.4:c.450+1526C>T,\N,\N,2/22,Benign,\N,intron_variant,2.732,0.0051,1KG_SAS_AF,ALMS1
441800,2:73637437:A>C,NM_015120.4:c.450+1562A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.171,\N,\N,ALMS1
441801,2:73637461:G>C,NM_015120.4:c.450+1586G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.61,0.002,1KG_EAS_AF,ALMS1
441802,2:73637479:T>C,NM_015120.4:c.450+1604T>C,\N,\N,2/22,Benign,\N,intron_variant,1.906,0.0204,1KG_SAS_AF,ALMS1
441803,2:73637519:A>G,NM_015120.4:c.450+1644A>G,\N,\N,2/22,Benign,\N,intron_variant,0.739,0.6021,1KG_AFR_AF,ALMS1
441804,2:73637531:A>G,NM_015120.4:c.450+1656A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.834,0.0014,1KG_AMR_AF,ALMS1
441805,2:73637532:A>C,NM_015120.4:c.450+1657A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.289,0.001,1KG_SAS_AF,ALMS1
441806,2:73637537:A>G,NM_015120.4:c.450+1662A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.062,\N,\N,ALMS1
441807,2:73637548:CA>C,NM_015120.4:c.450+1679del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441808,2:73637565:A>G,NM_015120.4:c.450+1690A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.822,0.001,1KG_SAS_AF,ALMS1
441809,2:73637577:C>T,NM_015120.4:c.450+1702C>T,\N,\N,2/22,Benign,\N,intron_variant,2.672,0.0681,1KG_AFR_AF,ALMS1
441810,2:73637579:C>G,NM_015120.4:c.450+1704C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.517,\N,\N,ALMS1
441811,2:73637582:A>T,NM_015120.4:c.450+1707A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.452,0.001,1KG_SAS_AF,ALMS1
441812,2:73637659:T>C,NM_015120.4:c.450+1784T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.679,0.0008,1KG_AFR_AF,ALMS1
441813,2:73637661:G>A,NM_015120.4:c.450+1786G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.059,0.0014,1KG_AMR_AF,ALMS1
441814,2:73637731:A>G,NM_015120.4:c.450+1856A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.412,0.0008,1KG_AFR_AF,ALMS1
441815,2:73637773:C>T,NM_015120.4:c.450+1898C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,13.9,\N,\N,ALMS1
441816,2:73637779:T>G,NM_015120.4:c.450+1904T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,6.606,\N,\N,ALMS1
441817,2:73637806:C>T,NM_015120.4:c.450+1931C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,10.54,0.001,1KG_SAS_AF,ALMS1
441818,2:73637819:T>C,NM_015120.4:c.450+1944T>C,\N,\N,2/22,Benign,\N,intron_variant,4.638,0.0218,1KG_EAS_AF,ALMS1
441819,2:73637851:C>T,NM_015120.4:c.450+1976C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,8.757,0.001,1KG_EAS_AF,ALMS1
441820,2:73637880:G>A,NM_015120.4:c.450+2005G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.665,0.0015,1KG_AFR_AF,ALMS1
441821,2:73637883:C>T,NM_015120.4:c.450+2008C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.719,0.0038,1KG_AFR_AF,ALMS1
441822,2:73637919:TGGA>T,NM_015120.4:c.450+2048_450+2050del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441823,2:73637931:GTTAT>G,NM_015120.4:c.450+2058_450+2061del,\N,\N,2/22,Benign,\N,intron_variant,4.73,0.1377,1KG_AFR_AF,ALMS1
441824,2:73637938:G>A,NM_015120.4:c.450+2063G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.04,0.0008,1KG_AFR_AF,ALMS1
441825,2:73637938:G>T,NM_015120.4:c.450+2063G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.074,\N,\N,ALMS1
441826,2:73637944:CTAA>C,NM_015120.4:c.450+2074_450+2076del,\N,\N,2/22,Benign,\N,intron_variant,5.981,0.1377,1KG_AFR_AF,ALMS1
441827,2:73637947:A>G,NM_015120.4:c.450+2072A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.663,0.0041,1KG_SAS_AF,ALMS1
441828,2:73637958:A>G,NM_015120.4:c.450+2083A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.49,\N,\N,ALMS1
441829,2:73637966:G>A,NM_015120.4:c.450+2091G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.62,\N,\N,ALMS1
441830,2:73637967:G>T,NM_015120.4:c.450+2092G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.375,0.0008,1KG_AFR_AF,ALMS1
441831,2:73637970:G>A,NM_015120.4:c.450+2095G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,5.169,\N,\N,ALMS1
441832,2:73637978:A>G,NM_015120.4:c.450+2103A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,9.28,0.002,1KG_SAS_AF,ALMS1
441833,2:73637999:T>C,NM_015120.4:c.450+2124T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.71,0.001,1KG_SAS_AF,ALMS1
441834,2:73638000:A>G,NM_015120.4:c.450+2125A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.349,\N,\N,ALMS1
441835,2:73638030:A>T,NM_015120.4:c.450+2155A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.914,\N,\N,ALMS1
441836,2:73638053:G>T,NM_015120.4:c.450+2178G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.179,0.001,1KG_EAS_AF,ALMS1
441837,2:73638066:T>TA,NM_015120.4:c.450+2192dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441838,2:73638070:C>CT,NM_015120.4:c.450+2196dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441839,2:73638090:T>C,NM_015120.4:c.450+2215T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.56,\N,\N,ALMS1
441840,2:73638098:A>G,NM_015120.4:c.450+2223A>G,\N,\N,2/22,Benign,\N,intron_variant,1.971,0.1354,1KG_AMR_AF,ALMS1
441841,2:73638101:C>T,NM_015120.4:c.450+2226C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.245,0.001,1KG_EAS_AF,ALMS1
441842,2:73638105:A>G,NM_015120.4:c.450+2230A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.436,0.0008,1KG_AFR_AF,ALMS1
441843,2:73638113:A>C,NM_015120.4:c.450+2238A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.927,\N,\N,ALMS1
441844,2:73638137:A>G,NM_015120.4:c.450+2262A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.521,0.003,1KG_AFR_AF,ALMS1
441845,2:73638146:G>A,NM_015120.4:c.450+2271G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.367,\N,\N,ALMS1
441846,2:73638203:A>G,NM_015120.4:c.450+2328A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.154,0.001,1KG_SAS_AF,ALMS1
441847,2:73638207:C>G,NM_015120.4:c.450+2332C>G,\N,\N,2/22,Benign,\N,intron_variant,6.67,0.0051,1KG_SAS_AF,ALMS1
441848,2:73638229:G>A,NM_015120.4:c.450+2354G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,8.072,\N,\N,ALMS1
441849,2:73638281:C>A,NM_015120.4:c.450+2406C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.589,\N,\N,ALMS1
441850,2:73638284:A>G,NM_015120.4:c.450+2409A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.031,0.0008,1KG_AFR_AF,ALMS1
441851,2:73638329:A>G,NM_015120.4:c.450+2454A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.642,0.0014,1KG_AMR_AF,ALMS1
441852,2:73638353:C>A,NM_015120.4:c.450+2478C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,3.006,\N,\N,ALMS1
441853,2:73638354:G>A,NM_015120.4:c.450+2479G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.093,0.0008,1KG_AFR_AF,ALMS1
441854,2:73638363:T>C,NM_015120.4:c.450+2488T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.76,\N,\N,ALMS1
441855,2:73638440:G>T,NM_015120.4:c.450+2565G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.225,0.001,1KG_EUR_AF,ALMS1
441856,2:73638460:A>G,NM_015120.4:c.450+2585A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,10.86,\N,\N,ALMS1
441857,2:73638516:C>T,NM_015120.4:c.450+2641C>T,\N,\N,2/22,Benign,\N,intron_variant,2.432,0.0754,1KG_EAS_AF,ALMS1
441858,2:73638520:A>G,NM_015120.4:c.450+2645A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.068,\N,\N,ALMS1
441859,2:73638532:T>G,NM_015120.4:c.450+2657T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.763,0.001,1KG_SAS_AF,ALMS1
441860,2:73638539:T>C,NM_015120.4:c.450+2664T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.254,0.0038,1KG_AFR_AF,ALMS1
441861,2:73638574:G>C,NM_015120.4:c.450+2699G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,6.97,\N,\N,ALMS1
441862,2:73638625:CA>C,NM_015120.4:c.450+2751del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441863,2:73638642:A>T,NM_015120.4:c.450+2767A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.884,\N,\N,ALMS1
441864,2:73638646:T>G,NM_015120.4:c.450+2771T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.348,\N,\N,ALMS1
441865,2:73638659:G>A,NM_015120.4:c.450+2784G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,5.974,\N,\N,ALMS1
441866,2:73638663:T>TC,NM_015120.4:c.450+2790dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441867,2:73638679:T>A,NM_015120.4:c.450+2804T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.029,0.002,1KG_SAS_AF,ALMS1
441868,2:73638689:C>A,NM_015120.4:c.450+2814C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.296,\N,\N,ALMS1
441869,2:73638714:T>A,NM_015120.4:c.450+2839T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.761,0.0015,1KG_AFR_AF,ALMS1
441870,2:73638721:C>T,NM_015120.4:c.450+2846C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,4.914,\N,\N,ALMS1
441871,2:73638740:C>T,NM_015120.4:c.450+2865C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.221,0.0023,1KG_AFR_AF,ALMS1
441872,2:73638762:T>C,NM_015120.4:c.450+2887T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.699,0.0043,1KG_AMR_AF,ALMS1
441873,2:73638766:G>A,NM_015120.4:c.450+2891G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.353,0.0041,1KG_SAS_AF,ALMS1
441874,2:73638823:G>C,NM_015120.4:c.450+2948G>C,\N,\N,2/22,Benign,\N,intron_variant,2.268,0.5984,1KG_EUR_AF,ALMS1
441875,2:73638824:A>T,NM_015120.4:c.450+2949A>T,\N,\N,2/22,Benign,\N,intron_variant,4.324,0.0119,1KG_EAS_AF,ALMS1
441876,2:73638830:C>T,NM_015120.4:c.450+2955C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.508,0.0014,1KG_AMR_AF,ALMS1
441877,2:73638834:AT>A,NM_015120.4:c.450+2962del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441878,2:73638864:A>G,NM_015120.4:c.450+2989A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,5.027,0.0041,1KG_SAS_AF,ALMS1
441879,2:73638873:C>T,NM_015120.4:c.450+2998C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.492,0.003,1KG_EUR_AF,ALMS1
441880,2:73638905:A>G,NM_015120.4:c.450+3030A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.612,0.0045,1KG_AFR_AF,ALMS1
441881,2:73638939:T>C,NM_015120.4:c.450+3064T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.053,\N,\N,ALMS1
441882,2:73638951:T>A,NM_015120.4:c.450+3076T>A,\N,\N,2/22,Benign,\N,intron_variant,5.249,0.0337,1KG_EAS_AF,ALMS1
441883,2:73638969:C>T,NM_015120.4:c.450+3094C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.787,\N,\N,ALMS1
441884,2:73639002:T>C,NM_015120.4:c.450+3127T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.198,\N,\N,ALMS1
441885,2:73639028:T>A,NM_015120.4:c.450+3153T>A,\N,\N,2/22,Benign,\N,intron_variant,3.564,0.028,1KG_AFR_AF,ALMS1
441886,2:73639046:A>C,NM_015120.4:c.450+3171A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.755,0.0008,1KG_AFR_AF,ALMS1
441887,2:73639051:C>A,NM_015120.4:c.450+3176C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.192,0.001,1KG_EUR_AF,ALMS1
441888,2:73639057:T>C,NM_015120.4:c.450+3182T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.269,0.0014,1KG_AMR_AF,ALMS1
441889,2:73639066:T>C,NM_015120.4:c.450+3191T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.382,\N,\N,ALMS1
441890,2:73639101:G>T,NM_015120.4:c.450+3226G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.305,\N,\N,ALMS1
441891,2:73639124:C>T,NM_015120.4:c.450+3249C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.232,\N,\N,ALMS1
441892,2:73639131:A>AT,NM_015120.4:c.450+3260dup,\N,\N,2/22,Unknown significance,\N,intron_variant,0.171,0.0015,1KG_AFR_AF,ALMS1
441893,2:73639163:C>T,NM_015120.4:c.450+3288C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.529,0.0008,1KG_AFR_AF,ALMS1
441894,2:73639219:G>C,NM_015120.4:c.450+3344G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.212,\N,\N,ALMS1
441895,2:73639293:C>T,NM_015120.4:c.450+3418C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.574,0.0014,1KG_AMR_AF,ALMS1
441896,2:73639297:C>T,NM_015120.4:c.450+3422C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.993,0.001,1KG_EUR_AF,ALMS1
441897,2:73639299:C>T,NM_015120.4:c.450+3424C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.718,0.0014,1KG_AMR_AF,ALMS1
441898,2:73639320:G>A,NM_015120.4:c.450+3445G>A,\N,\N,2/22,Benign,\N,intron_variant,0.791,0.005,1KG_EAS_AF,ALMS1
441899,2:73639321:C>G,NM_015120.4:c.450+3446C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.233,0.0014,1KG_AMR_AF,ALMS1
441900,2:73639323:C>T,NM_015120.4:c.450+3448C>T,\N,\N,2/22,Benign,\N,intron_variant,0.974,0.005,1KG_EAS_AF,ALMS1
441901,2:73639343:G>T,NM_015120.4:c.450+3468G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.036,0.0008,1KG_AFR_AF,ALMS1
441902,2:73639367:C>G,NM_015120.4:c.450+3492C>G,\N,\N,2/22,Benign,\N,intron_variant,6.991,0.0287,1KG_AFR_AF,ALMS1
441903,2:73639373:A>G,NM_015120.4:c.450+3498A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,9.113,0.002,1KG_SAS_AF,ALMS1
441904,2:73639377:A>G,NM_015120.4:c.450+3502A>G,\N,\N,2/22,Benign,\N,intron_variant,9.462,0.0089,1KG_EAS_AF,ALMS1
441905,2:73639378:G>A,NM_015120.4:c.450+3503G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,8.52,\N,\N,ALMS1
441906,2:73639384:T>TCC,NM_015120.4:c.450+3512_450+3513dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441907,2:73639392:T>C,NM_015120.4:c.450+3517T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.934,0.0029,1KG_AMR_AF,ALMS1
441908,2:73639456:C>T,NM_015120.4:c.450+3581C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.018,0.0029,1KG_AMR_AF,ALMS1
441909,2:73639457:G>A,NM_015120.4:c.450+3582G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.613,0.0015,1KG_AFR_AF,ALMS1
441910,2:73639476:T>C,NM_015120.4:c.450+3601T>C,\N,\N,2/22,Benign,\N,intron_variant,3.226,0.7907,1KG_EAS_AF,ALMS1
441911,2:73639481:T>G,NM_015120.4:c.450+3606T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,6.228,\N,\N,ALMS1
441912,2:73639487:C>G,NM_015120.4:c.450+3612C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.991,0.001,1KG_EAS_AF,ALMS1
441913,2:73639488:A>G,NM_015120.4:c.450+3613A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.443,0.0014,1KG_AMR_AF,ALMS1
441914,2:73639495:T>G,NM_015120.4:c.450+3620T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.882,0.001,1KG_SAS_AF,ALMS1
441915,2:73639511:A>G,NM_015120.4:c.450+3636A>G,\N,\N,2/22,Benign,\N,intron_variant,4.281,0.0303,1KG_AFR_AF,ALMS1
441916,2:73639515:A>G,NM_015120.4:c.450+3640A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,5.944,\N,\N,ALMS1
441917,2:73639543:C>T,NM_015120.4:c.450+3668C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.277,\N,\N,ALMS1
441918,2:73639560:C>G,NM_015120.4:c.450+3685C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.595,0.0029,1KG_AMR_AF,ALMS1
441919,2:73639627:C>G,NM_015120.4:c.450+3752C>G,\N,\N,2/22,Benign,\N,intron_variant,0.801,0.0089,1KG_EAS_AF,ALMS1
441920,2:73639634:A>C,NM_015120.4:c.450+3759A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.276,\N,\N,ALMS1
441921,2:73639656:G>A,NM_015120.4:c.450+3781G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.748,0.001,1KG_EUR_AF,ALMS1
441922,2:73639683:C>T,NM_015120.4:c.450+3808C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.926,0.0023,1KG_AFR_AF,ALMS1
441923,2:73639694:G>C,NM_015120.4:c.450+3819G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.366,\N,\N,ALMS1
441924,2:73639721:C>T,NM_015120.4:c.450+3846C>T,\N,\N,2/22,Benign,\N,intron_variant,4.171,0.0371,1KG_AFR_AF,ALMS1
441925,2:73639746:A>G,NM_015120.4:c.450+3871A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.705,0.0008,1KG_AFR_AF,ALMS1
441926,2:73639752:C>T,NM_015120.4:c.450+3877C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.629,0.0029,1KG_AMR_AF,ALMS1
441927,2:73639753:G>A,NM_015120.4:c.450+3878G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.908,\N,\N,ALMS1
441928,2:73639782:G>C,NM_015120.4:c.450+3907G>C,\N,\N,2/22,Benign,\N,intron_variant,7.742,0.0711,1KG_AFR_AF,ALMS1
441929,2:73639824:T>A,NM_015120.4:c.450+3949T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,12.37,\N,\N,ALMS1
441930,2:73639838:C>T,NM_015120.4:c.450+3963C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.512,0.0023,1KG_AFR_AF,ALMS1
441931,2:73639875:G>A,NM_015120.4:c.450+4000G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.931,0.001,1KG_SAS_AF,ALMS1
441932,2:73639876:A>G,NM_015120.4:c.450+4001A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.061,\N,\N,ALMS1
441933,2:73639879:G>A,NM_015120.4:c.450+4004G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.808,0.0014,1KG_AMR_AF,ALMS1
441934,2:73639880:C>T,NM_015120.4:c.450+4005C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.349,\N,\N,ALMS1
441935,2:73639900:G>A,NM_015120.4:c.450+4025G>A,\N,\N,2/22,Benign,\N,intron_variant,1.98,0.0076,1KG_AFR_AF,ALMS1
441936,2:73639933:AAAC>A,NM_015120.4:c.450+4061_450+4063del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441937,2:73639935:A>T,NM_015120.4:c.450+4060A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.732,\N,\N,ALMS1
441938,2:73639957:T>C,NM_015120.4:c.450+4082T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,4.084,\N,\N,ALMS1
441939,2:73639978:T>C,NM_015120.4:c.450+4103T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.553,\N,\N,ALMS1
441940,2:73640054:T>C,NM_015120.4:c.450+4179T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,8.719,0.001,1KG_EUR_AF,ALMS1
441941,2:73640075:C>G,NM_015120.4:c.450+4200C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,7.193,\N,\N,ALMS1
441942,2:73640091:T>G,NM_015120.4:c.450+4216T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.557,0.0014,1KG_AMR_AF,ALMS1
441943,2:73640158:T>A,NM_015120.4:c.450+4283T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,5.499,\N,\N,ALMS1
441944,2:73640193:C>A,NM_015120.4:c.450+4318C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,5.898,0.0023,1KG_AFR_AF,ALMS1
441945,2:73640195:C>G,NM_015120.4:c.450+4320C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,5.623,0.0031,1KG_SAS_AF,ALMS1
441946,2:73640199:T>G,NM_015120.4:c.450+4324T>G,\N,\N,2/22,Benign,\N,intron_variant,7.33,0.0112,1KG_SAS_AF,ALMS1
441947,2:73640211:T>C,NM_015120.4:c.450+4336T>C,\N,\N,2/22,Benign,\N,intron_variant,3.416,0.006,1KG_EAS_AF,ALMS1
441948,2:73640226:T>C,NM_015120.4:c.450+4351T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.421,\N,\N,ALMS1
441949,2:73640240:C>G,NM_015120.4:c.450+4365C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.003,\N,\N,ALMS1
441950,2:73640251:T>A,NM_015120.4:c.450+4376T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.65,\N,\N,ALMS1
441951,2:73640300:G>A,NM_015120.4:c.450+4425G>A,\N,\N,2/22,Benign,\N,intron_variant,8.828,0.1354,1KG_AFR_AF,ALMS1
441952,2:73640307:TCA>T,NM_015120.4:c.450+4433_450+4434del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441953,2:73640316:G>T,NM_015120.4:c.450+4441G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,6.858,\N,\N,ALMS1
441954,2:73640326:A>T,NM_015120.4:c.450+4451A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.784,\N,\N,ALMS1
441955,2:73640338:C>T,NM_015120.4:c.450+4463C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.693,0.0008,1KG_AFR_AF,ALMS1
441956,2:73640360:A>G,NM_015120.4:c.450+4485A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.591,0.001,1KG_SAS_AF,ALMS1
441957,2:73640364:G>A,NM_015120.4:c.450+4489G>A,\N,\N,2/22,Benign,\N,intron_variant,2.036,0.1392,1KG_AFR_AF,ALMS1
441958,2:73640372:TGCAGAGACAGTCTGTG>T,NM_015120.4:c.450+4501_450+4516del,\N,\N,2/22,Unknown significance,\N,intron_variant,5.085,\N,\N,ALMS1
441959,2:73640379:A>G,NM_015120.4:c.450+4504A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.267,0.001,1KG_EUR_AF,ALMS1
441960,2:73640381:A>C,NM_015120.4:c.450+4506A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.632,0.0008,1KG_AFR_AF,ALMS1
441961,2:73640386:G>A,NM_015120.4:c.450+4511G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.842,\N,\N,ALMS1
441962,2:73640399:G>A,NM_015120.4:c.450+4524G>A,\N,\N,2/22,Benign,\N,intron_variant,1.773,0.1377,1KG_AFR_AF,ALMS1
441963,2:73640444:CTTGT>C,NM_015120.4:c.450+4572_450+4575del,\N,\N,2/22,Benign,\N,intron_variant,8.21,0.0295,1KG_AFR_AF,ALMS1
441964,2:73640491:C>T,NM_015120.4:c.450+4616C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.704,0.002,1KG_SAS_AF,ALMS1
441965,2:73640502:A>G,NM_015120.4:c.450+4627A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.653,\N,\N,ALMS1
441966,2:73640510:C>T,NM_015120.4:c.450+4635C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,7.931,\N,\N,ALMS1
441967,2:73640518:A>T,NM_015120.4:c.450+4643A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,6.066,0.001,1KG_EAS_AF,ALMS1
441968,2:73640528:G>A,NM_015120.4:c.450+4653G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.013,0.0014,1KG_AMR_AF,ALMS1
441969,2:73640540:A>G,NM_015120.4:c.450+4665A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,11.99,\N,\N,ALMS1
441970,2:73640579:AT>A,NM_015120.4:c.450+4706del,\N,\N,2/22,Unknown significance,\N,intron_variant,3.557,0.002,1KG_EUR_AF,ALMS1
441971,2:73640613:G>A,NM_015120.4:c.450+4738G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.009,0.0008,1KG_AFR_AF,ALMS1
441972,2:73640621:T>TC,NM_015120.4:c.450+4748dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441973,2:73640662:T>TC,NM_015120.4:c.450+4790dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441974,2:73640688:C>A,NM_015120.4:c.450+4813C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.256,0.001,1KG_SAS_AF,ALMS1
441975,2:73640696:T>C,NM_015120.4:c.450+4821T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,4.494,\N,\N,ALMS1
441976,2:73640710:G>A,NM_015120.4:c.450+4835G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,3.56,\N,\N,ALMS1
441977,2:73640725:C>G,NM_015120.4:c.450+4850C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.617,0.001,1KG_EUR_AF,ALMS1
441978,2:73640765:C>G,NM_015120.4:c.450+4890C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.542,0.0008,1KG_AFR_AF,ALMS1
441979,2:73640780:C>A,NM_015120.4:c.450+4905C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.034,0.003,1KG_AFR_AF,ALMS1
441980,2:73640787:T>C,NM_015120.4:c.450+4912T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,4.237,\N,\N,ALMS1
441981,2:73640788:C>T,NM_015120.4:c.450+4913C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.299,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
441982,2:73640833:T>G,NM_015120.4:c.450+4958T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,9.207,\N,\N,ALMS1
441983,2:73640839:G>A,NM_015120.4:c.450+4964G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,8.54,0.0008,1KG_AFR_AF,ALMS1
441984,2:73640843:G>C,NM_015120.4:c.450+4968G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,4.692,\N,\N,ALMS1
441985,2:73640850:T>C,NM_015120.4:c.450+4975T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.226,\N,\N,ALMS1
441986,2:73640892:A>G,NM_015120.4:c.450+5017A>G,\N,\N,2/22,Benign,\N,intron_variant,0.272,0.0295,1KG_AFR_AF,ALMS1
441987,2:73640893:T>C,NM_015120.4:c.450+5018T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.255,\N,\N,ALMS1
441988,2:73640978:C>G,NM_015120.4:c.450+5103C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.103,\N,\N,ALMS1
441989,2:73641021:A>T,NM_015120.4:c.450+5146A>T,\N,\N,2/22,Benign,\N,intron_variant,1.555,0.0371,1KG_AFR_AF,ALMS1
441990,2:73641023:A>G,NM_015120.4:c.450+5148A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.007,0.0008,1KG_AFR_AF,ALMS1
441991,2:73641029:A>G,NM_015120.4:c.450+5154A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.776,0.001,1KG_EUR_AF,ALMS1
441992,2:73641035:A>T,NM_015120.4:c.450+5160A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.439,0.0014,1KG_AMR_AF,ALMS1
441993,2:73641055:A>G,NM_015120.4:c.450+5180A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.328,0.0014,1KG_AMR_AF,ALMS1
441994,2:73641077:A>C,NM_015120.4:c.451-5174A>C,\N,\N,2/22,Benign,\N,intron_variant,1.897,0.7857,1KG_EAS_AF,ALMS1
441995,2:73641088:T>G,NM_015120.4:c.451-5163T>G,\N,\N,2/22,Benign,\N,intron_variant,0.798,0.997,1KG_AFR_AF,ALMS1
441996,2:73641096:A>T,NM_015120.4:c.451-5155A>T,\N,\N,2/22,Benign,\N,intron_variant,1.094,0.006,1KG_EAS_AF,ALMS1
441997,2:73641130:G>A,NM_015120.4:c.451-5121G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.007,\N,\N,ALMS1
441998,2:73641138:GA>G,NM_015120.4:c.451-5111del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
441999,2:73641146:A>G,NM_015120.4:c.451-5105A>G,\N,\N,2/22,Benign,\N,intron_variant,6.955,0.0189,1KG_AFR_AF,ALMS1
442000,2:73641165:C>T,NM_015120.4:c.451-5086C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,14.61,\N,\N,ALMS1
442001,2:73641167:C>T,NM_015120.4:c.451-5084C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.316,\N,\N,ALMS1
442002,2:73641168:G>A,NM_015120.4:c.451-5083G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.228,\N,\N,ALMS1
442003,2:73641177:A>G,NM_015120.4:c.451-5074A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.853,0.002,1KG_EAS_AF,ALMS1
442004,2:73641193:C>T,NM_015120.4:c.451-5058C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,4.534,0.001,1KG_EAS_AF,ALMS1
442005,2:73641225:A>G,NM_015120.4:c.451-5026A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,11.13,\N,\N,ALMS1
442006,2:73641240:A>G,NM_015120.4:c.451-5011A>G,\N,\N,2/22,Benign,\N,intron_variant,0.813,0.7907,1KG_EAS_AF,ALMS1
442007,2:73641261:A>G,NM_015120.4:c.451-4990A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.923,\N,\N,ALMS1
442008,2:73641276:A>G,NM_015120.4:c.451-4975A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.539,\N,\N,ALMS1
442009,2:73641285:C>T,NM_015120.4:c.451-4966C>T,\N,\N,2/22,Benign,\N,intron_variant,3.751,0.4327,1KG_AFR_AF,ALMS1
442010,2:73641291:A>G,NM_015120.4:c.451-4960A>G,\N,\N,2/22,Benign,\N,intron_variant,1.44,0.0215,1KG_SAS_AF,ALMS1
442011,2:73641293:T>G,NM_015120.4:c.451-4958T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.53,0.002,1KG_EAS_AF,ALMS1
442012,2:73641312:C>G,NM_015120.4:c.451-4939C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.621,0.001,1KG_SAS_AF,ALMS1
442013,2:73641326:C>T,NM_015120.4:c.451-4925C>T,\N,\N,2/22,Benign,\N,intron_variant,16.28,0.7907,1KG_EAS_AF,ALMS1
442014,2:73641360:T>TA,NM_015120.4:c.451-4890dup,\N,\N,2/22,Benign,\N,intron_variant,11.25,0.0119,1KG_EAS_AF,ALMS1
442015,2:73641364:C>T,NM_015120.4:c.451-4887C>T,\N,\N,2/22,Benign,\N,intron_variant,0.916,0.5711,1KG_AFR_AF,ALMS1
442016,2:73641370:G>T,NM_015120.4:c.451-4881G>T,\N,\N,2/22,Benign,\N,intron_variant,1.437,0.0072,1KG_AMR_AF,ALMS1
442017,2:73641398:T>C,NM_015120.4:c.451-4853T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.414,0.001,1KG_EAS_AF,ALMS1
442018,2:73641424:G>A,NM_015120.4:c.451-4827G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.705,0.001,1KG_EUR_AF,ALMS1
442019,2:73641464:C>G,NM_015120.4:c.451-4787C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.215,0.001,1KG_EAS_AF,ALMS1
442020,2:73641501:CT>C,NM_015120.4:c.451-4744del,\N,\N,2/22,Benign,\N,intron_variant,12.42,0.7867,1KG_EAS_AF,ALMS1
442021,2:73641507:T>A,NM_015120.4:c.451-4744T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.094,\N,\N,ALMS1
442022,2:73641508:A>T,NM_015120.4:c.451-4743A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.095,0.0008,1KG_AFR_AF,ALMS1
442023,2:73641514:AT>A,NM_015120.4:c.451-4736del,\N,\N,2/22,Benign,\N,intron_variant,1.094,0.3184,1KG_AMR_AF,ALMS1
442024,2:73641515:T>A,NM_015120.4:c.451-4736T>A,\N,\N,2/22,Benign,\N,intron_variant,5.807,0.7907,1KG_EAS_AF,ALMS1
442025,2:73641535:A>G,NM_015120.4:c.451-4716A>G,\N,\N,2/22,Benign,\N,intron_variant,1.414,0.0719,1KG_AFR_AF,ALMS1
442026,2:73641538:CAG>C,NM_015120.4:c.451-4710_451-4709del,\N,\N,2/22,Unknown significance,\N,intron_variant,5.046,\N,\N,ALMS1
442027,2:73641553:T>A,NM_015120.4:c.451-4698T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.392,0.001,1KG_EUR_AF,ALMS1
442028,2:73641557:C>T,NM_015120.4:c.451-4694C>T,\N,\N,2/22,Benign,\N,intron_variant,2.251,0.7907,1KG_EAS_AF,ALMS1
442029,2:73641583:T>C,NM_015120.4:c.451-4668T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.351,0.001,1KG_SAS_AF,ALMS1
442030,2:73641601:GT>G,NM_015120.4:c.451-4635del,\N,\N,2/22,Unknown significance,\N,intron_variant,0.886,\N,\N,ALMS1
442031,2:73641601:GTTT>G,NM_015120.4:c.451-4637_451-4635del,\N,\N,2/22,Unknown significance,\N,intron_variant,1.128,\N,\N,ALMS1
442032,2:73641602:T>TTTTTTTTTTTTGG,NM_015120.4:c.451-4638_451-4637insGGTTTTTTTTTTT,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442033,2:73641603:T>TTTTTTTTTTGG,NM_015120.4:c.451-4639_451-4638insGGTTTTTTTTT,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442034,2:73641603:T>TTTTTTTTTTTGG,NM_015120.4:c.451-4638_451-4637insGGTTTTTTTTTT,\N,\N,2/22,Unknown significance,\N,intron_variant,0.433,\N,\N,ALMS1
442035,2:73641604:T>TTTTTTTTTTGG,NM_015120.4:c.451-4638_451-4637insGGTTTTTTTTT,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442036,2:73641604:T>TTTTTTTTTTGGG,NM_015120.4:c.451-4638_451-4637insGGGTTTTTTTTT,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442037,2:73641611:T>G,NM_015120.4:c.451-4640T>G,\N,\N,2/22,Benign,\N,intron_variant,1.406,0.028,1KG_AFR_AF,ALMS1
442038,2:73641612:T>G,NM_015120.4:c.451-4639T>G,\N,\N,2/22,Benign,\N,intron_variant,1.682,0.0139,1KG_EUR_AF,ALMS1
442039,2:73641613:T>G,NM_015120.4:c.451-4638T>G,\N,\N,2/22,Benign,\N,intron_variant,0.612,0.0083,1KG_AFR_AF,ALMS1
442040,2:73641614:T>G,NM_015120.4:c.451-4637T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.612,\N,\N,ALMS1
442041,2:73641615:T>G,NM_015120.4:c.451-4636T>G,\N,\N,2/22,Benign,\N,intron_variant,1.247,0.7728,1KG_EAS_AF,ALMS1
442042,2:73641616:T>G,NM_015120.4:c.451-4635T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.864,\N,\N,ALMS1
442043,2:73641616:TG>T,NM_015120.4:c.451-4634del,\N,\N,2/22,Benign,\N,intron_variant,1.747,0.7728,1KG_EAS_AF,ALMS1
442044,2:73641617:G>C,NM_015120.4:c.451-4634G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.16,\N,\N,ALMS1
442045,2:73641617:G>GT,NM_015120.4:c.451-4624dup,\N,\N,2/22,Unknown significance,\N,intron_variant,0.386,\N,\N,ALMS1
442046,2:73641617:G>T,NM_015120.4:c.451-4634G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.34,\N,\N,ALMS1
442047,2:73641623:T>G,NM_015120.4:c.451-4628T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.561,0.0008,1KG_AFR_AF,ALMS1
442048,2:73641652:G>A,NM_015120.4:c.451-4599G>A,\N,\N,2/22,Benign,\N,intron_variant,2.431,0.1876,1KG_AFR_AF,ALMS1
442049,2:73641656:A>G,NM_015120.4:c.451-4595A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.533,\N,\N,ALMS1
442050,2:73641705:A>T,NM_015120.4:c.451-4546A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.315,0.001,1KG_EAS_AF,ALMS1
442051,2:73641714:C>T,NM_015120.4:c.451-4537C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,4.574,0.0014,1KG_AMR_AF,ALMS1
442052,2:73641732:T>C,NM_015120.4:c.451-4519T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.235,\N,\N,ALMS1
442053,2:73641808:A>G,NM_015120.4:c.451-4443A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.401,\N,\N,ALMS1
442054,2:73641844:G>C,NM_015120.4:c.451-4407G>C,\N,\N,2/22,Benign,\N,intron_variant,0.87,0.0266,1KG_SAS_AF,ALMS1
442055,2:73641845:G>T,NM_015120.4:c.451-4406G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.399,0.001,1KG_EUR_AF,ALMS1
442056,2:73641853:T>C,NM_015120.4:c.451-4398T>C,\N,\N,2/22,Benign,\N,intron_variant,0.928,0.6014,1KG_AFR_AF,ALMS1
442057,2:73641857:C>T,NM_015120.4:c.451-4394C>T,\N,\N,2/22,Benign,\N,intron_variant,2.917,0.0303,1KG_AFR_AF,ALMS1
442058,2:73641859:C>T,NM_015120.4:c.451-4392C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.719,0.0038,1KG_AFR_AF,ALMS1
442059,2:73641877:C>T,NM_015120.4:c.451-4374C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,7.346,\N,\N,ALMS1
442060,2:73641889:C>A,NM_015120.4:c.451-4362C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,10.57,0.0008,1KG_AFR_AF,ALMS1
442061,2:73641898:C>CTTCCT,NM_015120.4:c.451-4350_451-4346dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442062,2:73641898:C>T,NM_015120.4:c.451-4353C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,8.01,0.002,1KG_EUR_AF,ALMS1
442063,2:73641913:C>T,NM_015120.4:c.451-4338C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.749,0.0008,1KG_AFR_AF,ALMS1
442064,2:73641975:A>AT,NM_015120.4:c.451-4268dup,\N,\N,2/22,Unknown significance,\N,intron_variant,0.692,\N,\N,ALMS1
442065,2:73641997:A>G,NM_015120.4:c.451-4254A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,5.597,0.0008,1KG_AFR_AF,ALMS1
442066,2:73642003:T>C,NM_015120.4:c.451-4248T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.296,\N,\N,ALMS1
442067,2:73642035:T>C,NM_015120.4:c.451-4216T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.43,0.0008,1KG_AFR_AF,ALMS1
442068,2:73642057:C>T,NM_015120.4:c.451-4194C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.264,\N,\N,ALMS1
442069,2:73642072:T>A,NM_015120.4:c.451-4179T>A,\N,\N,2/22,Benign,\N,intron_variant,4.771,0.9438,1KG_AMR_AF,ALMS1
442070,2:73642097:C>T,NM_015120.4:c.451-4154C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.202,0.0015,1KG_AFR_AF,ALMS1
442071,2:73642123:C>G,NM_015120.4:c.451-4128C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,6.15,\N,\N,ALMS1
442072,2:73642133:T>G,NM_015120.4:c.451-4118T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,7.298,\N,\N,ALMS1
442073,2:73642135:G>C,NM_015120.4:c.451-4116G>C,\N,\N,2/22,Benign,\N,intron_variant,4.51,0.0787,1KG_AFR_AF,ALMS1
442074,2:73642140:G>A,NM_015120.4:c.451-4111G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.193,0.002,1KG_SAS_AF,ALMS1
442075,2:73642150:T>A,NM_015120.4:c.451-4101T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,4.365,0.002,1KG_SAS_AF,ALMS1
442076,2:73642152:G>A,NM_015120.4:c.451-4099G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.837,0.0014,1KG_AMR_AF,ALMS1
442077,2:73642153:C>T,NM_015120.4:c.451-4098C>T,\N,\N,2/22,Benign,\N,intron_variant,4.495,0.0307,1KG_SAS_AF,ALMS1
442078,2:73642154:G>A,NM_015120.4:c.451-4097G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.923,0.001,1KG_EAS_AF,ALMS1
442079,2:73642173:A>G,NM_015120.4:c.451-4078A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.474,0.001,1KG_EUR_AF,ALMS1
442080,2:73642239:A>C,NM_015120.4:c.451-4012A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.153,\N,\N,ALMS1
442081,2:73642249:A>T,NM_015120.4:c.451-4002A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.708,\N,\N,ALMS1
442082,2:73642269:G>A,NM_015120.4:c.451-3982G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.667,\N,\N,ALMS1
442083,2:73642273:T>C,NM_015120.4:c.451-3978T>C,\N,\N,2/22,Benign,\N,intron_variant,6.825,0.0711,1KG_AFR_AF,ALMS1
442084,2:73642275:C>G,NM_015120.4:c.451-3976C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,7.104,0.001,1KG_EUR_AF,ALMS1
442085,2:73642284:A>G,NM_015120.4:c.451-3967A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,6.551,\N,\N,ALMS1
442086,2:73642287:T>C,NM_015120.4:c.451-3964T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,5.523,0.0008,1KG_AFR_AF,ALMS1
442087,2:73642311:T>C,NM_015120.4:c.451-3940T>C,\N,\N,2/22,Benign,\N,intron_variant,7.025,0.134,1KG_AMR_AF,ALMS1
442088,2:73642336:G>A,NM_015120.4:c.451-3915G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,12.44,\N,\N,ALMS1
442089,2:73642340:AAC>A,NM_015120.4:c.451-3907_451-3906del,\N,\N,2/22,Benign,\N,intron_variant,9.904,0.0371,1KG_AFR_AF,ALMS1
442090,2:73642403:A>C,NM_015120.4:c.451-3848A>C,\N,\N,2/22,Benign,\N,intron_variant,6.725,0.7867,1KG_EAS_AF,ALMS1
442091,2:73642403:A>T,NM_015120.4:c.451-3848A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,7.877,\N,\N,ALMS1
442092,2:73642404:G>T,NM_015120.4:c.451-3847G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.083,\N,\N,ALMS1
442093,2:73642449:T>C,NM_015120.4:c.451-3802T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,6.402,\N,\N,ALMS1
442094,2:73642449:T>G,NM_015120.4:c.451-3802T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,7.096,0.001,1KG_SAS_AF,ALMS1
442095,2:73642457:T>C,NM_015120.4:c.451-3794T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,6.69,0.0014,1KG_AMR_AF,ALMS1
442096,2:73642509:G>T,NM_015120.4:c.451-3742G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,13.03,0.001,1KG_SAS_AF,ALMS1
442097,2:73642520:A>C,NM_015120.4:c.451-3731A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,11.3,\N,\N,ALMS1
442098,2:73642551:T>A,NM_015120.4:c.451-3700T>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.193,\N,\N,ALMS1
442099,2:73642552:TTGAA>T,NM_015120.4:c.451-3695_451-3692del,\N,\N,2/22,Benign,\N,intron_variant,1.782,0.0703,1KG_AFR_AF,ALMS1
442100,2:73642586:T>G,NM_015120.4:c.451-3665T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.729,0.002,1KG_EUR_AF,ALMS1
442101,2:73642589:CTT>C,NM_015120.4:c.451-3655_451-3654del,\N,\N,2/22,Unknown significance,\N,intron_variant,4.921,\N,\N,ALMS1
442102,2:73642621:T>G,NM_015120.4:c.451-3630T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.086,\N,\N,ALMS1
442103,2:73642680:C>G,NM_015120.4:c.451-3571C>G,\N,\N,2/22,Benign,\N,intron_variant,0.141,0.0106,1KG_AFR_AF,ALMS1
442104,2:73642709:A>G,NM_015120.4:c.451-3542A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,7.854,0.0014,1KG_AMR_AF,ALMS1
442105,2:73642714:G>A,NM_015120.4:c.451-3537G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.316,\N,\N,ALMS1
442106,2:73642716:G>A,NM_015120.4:c.451-3535G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.318,\N,\N,ALMS1
442107,2:73642718:G>A,NM_015120.4:c.451-3533G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,0.173,\N,\N,ALMS1
442108,2:73642749:A>G,NM_015120.4:c.451-3502A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.804,\N,\N,ALMS1
442109,2:73642760:C>T,NM_015120.4:c.451-3491C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,12.77,\N,\N,ALMS1
442110,2:73642796:G>C,NM_015120.4:c.451-3455G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,12.45,\N,\N,ALMS1
442111,2:73642801:C>T,NM_015120.4:c.451-3450C>T,\N,\N,2/22,Benign,\N,intron_variant,13.14,0.0061,1KG_AFR_AF,ALMS1
442112,2:73642809:T>G,NM_015120.4:c.451-3442T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,12.39,\N,\N,ALMS1
442113,2:73642814:G>A,NM_015120.4:c.451-3437G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,7.741,\N,\N,ALMS1
442114,2:73642821:A>G,NM_015120.4:c.451-3430A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.457,0.001,1KG_EAS_AF,ALMS1
442115,2:73642867:C>T,NM_015120.4:c.451-3384C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.576,\N,\N,ALMS1
442116,2:73642881:G>T,NM_015120.4:c.451-3370G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.823,\N,\N,ALMS1
442117,2:73642888:G>T,NM_015120.4:c.451-3363G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.349,\N,\N,ALMS1
442118,2:73642897:C>T,NM_015120.4:c.451-3354C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.436,0.0014,1KG_AMR_AF,ALMS1
442119,2:73642958:G>A,NM_015120.4:c.451-3293G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,12.67,0.001,1KG_SAS_AF,ALMS1
442120,2:73642992:T>C,NM_015120.4:c.451-3259T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,10.76,0.0014,1KG_AMR_AF,ALMS1
442121,2:73643078:C>A,NM_015120.4:c.451-3173C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.681,\N,\N,ALMS1
442122,2:73643079:C>T,NM_015120.4:c.451-3172C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.221,\N,\N,ALMS1
442123,2:73643117:A>C,NM_015120.4:c.451-3134A>C,\N,\N,2/22,Benign,\N,intron_variant,0.405,0.0234,1KG_AFR_AF,ALMS1
442124,2:73643121:A>G,NM_015120.4:c.451-3130A>G,\N,\N,2/22,Benign,\N,intron_variant,2.592,0.0092,1KG_SAS_AF,ALMS1
442125,2:73643148:C>T,NM_015120.4:c.451-3103C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,4.92,0.004,1KG_EAS_AF,ALMS1
442126,2:73643174:A>G,NM_015120.4:c.451-3077A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.423,\N,\N,ALMS1
442127,2:73643182:A>G,NM_015120.4:c.451-3069A>G,\N,\N,2/22,Benign,\N,intron_variant,0.398,0.9438,1KG_AMR_AF,ALMS1
442128,2:73643204:A>G,NM_015120.4:c.451-3047A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.883,0.001,1KG_SAS_AF,ALMS1
442129,2:73643223:A>T,NM_015120.4:c.451-3028A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.62,0.001,1KG_EAS_AF,ALMS1
442130,2:73643241:C>T,NM_015120.4:c.451-3010C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.012,0.001,1KG_EUR_AF,ALMS1
442131,2:73643280:T>C,NM_015120.4:c.451-2971T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.823,\N,\N,ALMS1
442132,2:73643290:G>A,NM_015120.4:c.451-2961G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.055,\N,\N,ALMS1
442133,2:73643290:G>C,NM_015120.4:c.451-2961G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.21,\N,\N,ALMS1
442134,2:73643338:G>T,NM_015120.4:c.451-2913G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.173,\N,\N,ALMS1
442135,2:73643404:A>G,NM_015120.4:c.451-2847A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.848,\N,\N,ALMS1
442136,2:73643414:C>T,NM_015120.4:c.451-2837C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.989,\N,\N,ALMS1
442137,2:73643430:A>G,NM_015120.4:c.451-2821A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.934,0.0023,1KG_AFR_AF,ALMS1
442138,2:73643431:T>C,NM_015120.4:c.451-2820T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.145,0.0008,1KG_AFR_AF,ALMS1
442139,2:73643462:G>T,NM_015120.4:c.451-2789G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,1.798,\N,\N,ALMS1
442140,2:73643470:G>A,NM_015120.4:c.451-2781G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.085,\N,\N,ALMS1
442141,2:73643565:G>T,NM_015120.4:c.451-2686G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.136,\N,\N,ALMS1
442142,2:73643567:A>G,NM_015120.4:c.451-2684A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.15,0.0014,1KG_AMR_AF,ALMS1
442143,2:73643602:T>G,NM_015120.4:c.451-2649T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,7.568,\N,\N,ALMS1
442144,2:73643622:C>G,NM_015120.4:c.451-2629C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.808,\N,\N,ALMS1
442145,2:73643627:T>G,NM_015120.4:c.451-2624T>G,\N,\N,2/22,Benign,\N,intron_variant,2.044,0.0685,1KG_EAS_AF,ALMS1
442146,2:73643643:G>T,NM_015120.4:c.451-2608G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.208,0.004,1KG_EAS_AF,ALMS1
442147,2:73643676:C>G,NM_015120.4:c.451-2575C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.904,0.001,1KG_EUR_AF,ALMS1
442148,2:73643701:C>T,NM_015120.4:c.451-2550C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.166,\N,\N,ALMS1
442149,2:73643702:G>A,NM_015120.4:c.451-2549G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.633,0.0015,1KG_AFR_AF,ALMS1
442150,2:73643702:G>GA,NM_015120.4:c.451-2545dup,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442151,2:73643716:A>G,NM_015120.4:c.451-2535A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.93,0.003,1KG_EAS_AF,ALMS1
442152,2:73643728:C>G,NM_015120.4:c.451-2523C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.322,\N,\N,ALMS1
442153,2:73643742:T>G,NM_015120.4:c.451-2509T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,6.996,0.0008,1KG_AFR_AF,ALMS1
442154,2:73643753:C>T,NM_015120.4:c.451-2498C>T,\N,\N,2/22,Benign,\N,intron_variant,1.596,0.1715,1KG_AMR_AF,ALMS1
442155,2:73643761:TAA>T,NM_015120.4:c.451-2487_451-2486del,\N,\N,2/22,Unknown significance,\N,intron_variant,6.086,\N,\N,ALMS1
442156,2:73643813:G>A,NM_015120.4:c.451-2438G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,9.401,0.0008,1KG_AFR_AF,ALMS1
442157,2:73643815:C>T,NM_015120.4:c.451-2436C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,3.538,\N,\N,ALMS1
442158,2:73643860:T>C,NM_015120.4:c.451-2391T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,3.43,0.0008,1KG_AFR_AF,ALMS1
442159,2:73643867:G>T,NM_015120.4:c.451-2384G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.736,0.0008,1KG_AFR_AF,ALMS1
442160,2:73643892:A>G,NM_015120.4:c.451-2359A>G,\N,\N,2/22,Benign,\N,intron_variant,2.903,0.0197,1KG_AFR_AF,ALMS1
442161,2:73643926:G>GAATT,NM_015120.4:c.451-2323_451-2320dup,\N,\N,2/22,Benign,\N,intron_variant,12.98,0.9438,1KG_AMR_AF,ALMS1
442162,2:73643926:G>T,NM_015120.4:c.451-2325G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,13.17,\N,\N,ALMS1
442163,2:73643927:A>AAATT,NM_015120.4:c.451-2323_451-2322insATTA,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442164,2:73643951:T>G,NM_015120.4:c.451-2300T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,7.088,0.001,1KG_EAS_AF,ALMS1
442165,2:73643959:C>T,NM_015120.4:c.451-2292C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.015,\N,\N,ALMS1
442166,2:73644031:G>A,NM_015120.4:c.451-2220G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,8.379,\N,\N,ALMS1
442167,2:73644063:C>A,NM_015120.4:c.451-2188C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,13.88,\N,\N,ALMS1
442168,2:73644110:A>G,NM_015120.4:c.451-2141A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,14.25,0.003,1KG_EAS_AF,ALMS1
442169,2:73644119:A>G,NM_015120.4:c.451-2132A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,12.14,\N,\N,ALMS1
442170,2:73644137:A>C,NM_015120.4:c.451-2114A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,9.067,0.001,1KG_SAS_AF,ALMS1
442171,2:73644197:G>A,NM_015120.4:c.451-2054G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,5.843,\N,\N,ALMS1
442172,2:73644224:C>G,NM_015120.4:c.451-2027C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.794,0.001,1KG_SAS_AF,ALMS1
442173,2:73644228:C>CA,NM_015120.4:c.451-2016dup,\N,\N,2/22,Benign,\N,intron_variant,5.569,0.0711,1KG_AFR_AF,ALMS1
442174,2:73644229:A>AC,NM_015120.4:c.451-2022_451-2021insC,\N,\N,2/22,Unknown significance,\N,intron_variant,0.275,\N,\N,ALMS1
442175,2:73644249:T>G,NM_015120.4:c.451-2002T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.948,\N,\N,ALMS1
442176,2:73644251:G>C,NM_015120.4:c.451-2000G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.401,\N,\N,ALMS1
442177,2:73644259:G>A,NM_015120.4:c.451-1992G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.85,0.0038,1KG_AFR_AF,ALMS1
442178,2:73644288:A>G,NM_015120.4:c.451-1963A>G,\N,\N,2/22,Benign,\N,intron_variant,1.781,0.0079,1KG_EAS_AF,ALMS1
442179,2:73644331:T>C,NM_015120.4:c.451-1920T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.095,0.001,1KG_SAS_AF,ALMS1
442180,2:73644336:C>G,NM_015120.4:c.451-1915C>G,\N,\N,2/22,Benign,\N,intron_variant,5.51,0.0129,1KG_EAS_AF,ALMS1
442181,2:73644352:C>T,NM_015120.4:c.451-1899C>T,\N,\N,2/22,Benign,\N,intron_variant,0.609,0.0711,1KG_AFR_AF,ALMS1
442182,2:73644388:CTA>C,NM_015120.4:c.451-1861_451-1860del,\N,\N,2/22,Unknown significance,\N,intron_variant,4.412,0.0043,1KG_AMR_AF,ALMS1
442183,2:73644473:T>G,NM_015120.4:c.451-1778T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.506,0.0008,1KG_AFR_AF,ALMS1
442184,2:73644481:A>G,NM_015120.4:c.451-1770A>G,\N,\N,2/22,Benign,\N,intron_variant,4.377,0.7882,1KG_AFR_AF,ALMS1
442185,2:73644506:A>C,NM_015120.4:c.451-1745A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.369,\N,\N,ALMS1
442186,2:73644539:T>C,NM_015120.4:c.451-1712T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.398,\N,\N,ALMS1
442187,2:73644549:C>T,NM_015120.4:c.451-1702C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.108,0.001,1KG_EAS_AF,ALMS1
442188,2:73644550:G>T,NM_015120.4:c.451-1701G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.062,\N,\N,ALMS1
442189,2:73644570:G>A,NM_015120.4:c.451-1681G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.062,\N,\N,ALMS1
442190,2:73644653:G>A,NM_015120.4:c.451-1598G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.566,0.003,1KG_AFR_AF,ALMS1
442191,2:73644665:A>G,NM_015120.4:c.451-1586A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.32,\N,\N,ALMS1
442192,2:73644682:G>T,NM_015120.4:c.451-1569G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.261,\N,\N,ALMS1
442193,2:73644744:G>T,NM_015120.4:c.451-1507G>T,\N,\N,2/22,Benign,\N,intron_variant,0.114,0.0061,1KG_SAS_AF,ALMS1
442194,2:73644762:A>T,NM_015120.4:c.451-1489A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.949,\N,\N,ALMS1
442195,2:73644789:C>G,NM_015120.4:c.451-1462C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.699,\N,\N,ALMS1
442196,2:73644826:C>T,NM_015120.4:c.451-1425C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.155,0.001,1KG_EUR_AF,ALMS1
442197,2:73644837:G>C,NM_015120.4:c.451-1414G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.209,0.0008,1KG_AFR_AF,ALMS1
442198,2:73644857:A>G,NM_015120.4:c.451-1394A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.84,0.0014,1KG_AMR_AF,ALMS1
442199,2:73644870:A>C,NM_015120.4:c.451-1381A>C,\N,\N,2/22,Unknown significance,\N,intron_variant,1.031,\N,\N,ALMS1
442200,2:73644913:C>G,NM_015120.4:c.451-1338C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.994,\N,\N,ALMS1
442201,2:73644920:A>T,NM_015120.4:c.451-1331A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,7.445,\N,\N,ALMS1
442202,2:73644933:A>G,NM_015120.4:c.451-1318A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,8.458,\N,\N,ALMS1
442203,2:73644934:T>C,NM_015120.4:c.451-1317T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,7.37,0.001,1KG_EAS_AF,ALMS1
442204,2:73644936:CTTAA>C,NM_015120.4:c.451-1311_451-1308del,\N,\N,2/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442205,2:73644998:A>T,NM_015120.4:c.451-1253A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,8.381,\N,\N,ALMS1
442206,2:73645006:C>T,NM_015120.4:c.451-1245C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.068,\N,\N,ALMS1
442207,2:73645020:C>T,NM_015120.4:c.451-1231C>T,\N,\N,2/22,Benign,\N,intron_variant,4.02,0.0089,1KG_EUR_AF,ALMS1
442208,2:73645036:G>C,NM_015120.4:c.451-1215G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.11,0.0008,1KG_AFR_AF,ALMS1
442209,2:73645045:A>G,NM_015120.4:c.451-1206A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.559,0.0014,1KG_AMR_AF,ALMS1
442210,2:73645059:A>G,NM_015120.4:c.451-1192A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.921,\N,\N,ALMS1
442211,2:73645070:G>A,NM_015120.4:c.451-1181G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.154,0.001,1KG_EAS_AF,ALMS1
442212,2:73645089:G>A,NM_015120.4:c.451-1162G>A,\N,\N,2/22,Benign,\N,intron_variant,0.382,0.8487,1KG_AFR_AF,ALMS1
442213,2:73645102:T>C,NM_015120.4:c.451-1149T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,7.057,\N,\N,ALMS1
442214,2:73645112:G>A,NM_015120.4:c.451-1139G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,12.01,\N,\N,ALMS1
442215,2:73645117:T>C,NM_015120.4:c.451-1134T>C,\N,\N,2/22,Benign,\N,intron_variant,13.81,0.0069,1KG_EAS_AF,ALMS1
442216,2:73645120:A>T,NM_015120.4:c.451-1131A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,10.88,\N,\N,ALMS1
442217,2:73645129:T>C,NM_015120.4:c.451-1122T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,10.73,\N,\N,ALMS1
442218,2:73645161:T>C,NM_015120.4:c.451-1090T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,2.1,\N,\N,ALMS1
442219,2:73645179:A>G,NM_015120.4:c.451-1072A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,11.56,\N,\N,ALMS1
442220,2:73645213:T>C,NM_015120.4:c.451-1038T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,5.016,0.0029,1KG_AMR_AF,ALMS1
442221,2:73645214:A>G,NM_015120.4:c.451-1037A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,5.605,\N,\N,ALMS1
442222,2:73645231:T>C,NM_015120.4:c.451-1020T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,8.99,0.0008,1KG_AFR_AF,ALMS1
442223,2:73645293:T>G,NM_015120.4:c.451-958T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,4.252,\N,\N,ALMS1
442224,2:73645307:A>G,NM_015120.4:c.451-944A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,5.587,\N,\N,ALMS1
442225,2:73645322:G>A,NM_015120.4:c.451-929G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.203,\N,\N,ALMS1
442226,2:73645338:G>C,NM_015120.4:c.451-913G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.279,\N,\N,ALMS1
442227,2:73645349:A>G,NM_015120.4:c.451-902A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.206,0.0008,1KG_AFR_AF,ALMS1
442228,2:73645445:A>G,NM_015120.4:c.451-806A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.838,\N,\N,ALMS1
442229,2:73645477:G>A,NM_015120.4:c.451-774G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.738,0.0008,1KG_AFR_AF,ALMS1
442230,2:73645485:A>T,NM_015120.4:c.451-766A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,0.792,0.0014,1KG_AMR_AF,ALMS1
442231,2:73645533:C>G,NM_015120.4:c.451-718C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.163,\N,\N,ALMS1
442232,2:73645552:A>G,NM_015120.4:c.451-699A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,2.158,0.001,1KG_SAS_AF,ALMS1
442233,2:73645573:C>T,NM_015120.4:c.451-678C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,4.718,0.001,1KG_EUR_AF,ALMS1
442234,2:73645577:T>G,NM_015120.4:c.451-674T>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.174,0.001,1KG_SAS_AF,ALMS1
442235,2:73645601:T>C,NM_015120.4:c.451-650T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,0.666,\N,\N,ALMS1
442236,2:73645608:G>A,NM_015120.4:c.451-643G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.452,\N,\N,ALMS1
442237,2:73645615:C>T,NM_015120.4:c.451-636C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,5.544,0.0015,1KG_AFR_AF,ALMS1
442238,2:73645648:C>G,NM_015120.4:c.451-603C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,3.487,\N,\N,ALMS1
442239,2:73645650:C>A,NM_015120.4:c.451-601C>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.495,\N,\N,ALMS1
442240,2:73645666:A>G,NM_015120.4:c.451-585A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.36,\N,\N,ALMS1
442241,2:73645677:G>A,NM_015120.4:c.451-574G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,14.75,\N,\N,ALMS1
442242,2:73645697:A>G,NM_015120.4:c.451-554A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,14.43,0.002,1KG_EAS_AF,ALMS1
442243,2:73645762:T>A,NM_015120.4:c.451-489T>A,\N,\N,2/22,Benign,\N,intron_variant,4.629,0.0159,1KG_EAS_AF,ALMS1
442244,2:73645823:C>T,NM_015120.4:c.451-428C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,11.69,0.001,1KG_EAS_AF,ALMS1
442245,2:73645863:A>G,NM_015120.4:c.451-388A>G,\N,\N,2/22,Benign,\N,intron_variant,5.502,0.1054,1KG_EUR_AF,ALMS1
442246,2:73645891:C>T,NM_015120.4:c.451-360C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,2.352,\N,\N,ALMS1
442247,2:73645914:C>T,NM_015120.4:c.451-337C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,11.45,0.0014,1KG_AMR_AF,ALMS1
442248,2:73645916:A>G,NM_015120.4:c.451-335A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,10.65,\N,\N,ALMS1
442249,2:73645998:A>G,NM_015120.4:c.451-253A>G,\N,\N,2/22,Benign,\N,intron_variant,4.481,0.0129,1KG_EUR_AF,ALMS1
442250,2:73646005:C>G,NM_015120.4:c.451-246C>G,\N,\N,2/22,Unknown significance,\N,intron_variant,0.878,\N,\N,ALMS1
442251,2:73646010:G>A,NM_015120.4:c.451-241G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,2.323,0.001,1KG_SAS_AF,ALMS1
442252,2:73646016:A>G,NM_015120.4:c.451-235A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,1.762,0.0014,1KG_AMR_AF,ALMS1
442253,2:73646086:G>A,NM_015120.4:c.451-165G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,6.526,0.0014,1KG_AMR_AF,ALMS1
442254,2:73646124:A>G,NM_015120.4:c.451-127A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,12.62,0.001,1KG_SAS_AF,ALMS1
442255,2:73646142:C>T,NM_015120.4:c.451-109C>T,\N,\N,2/22,Unknown significance,\N,intron_variant,8.142,0.001,1KG_SAS_AF,ALMS1
442256,2:73646174:G>A,NM_015120.4:c.451-77G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,1.811,0.002,1KG_SAS_AF,ALMS1
442257,2:73646201:A>G,NM_015120.4:c.451-50A>G,\N,\N,2/22,Unknown significance,\N,intron_variant,14.65,0.000121684,EXAC_EAS_AF,ALMS1
442258,2:73646202:T>C,NM_015120.4:c.451-49T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,14.99,0.000212585,EXAC_AFR_AF,ALMS1
442259,2:73646204:G>C,NM_015120.4:c.451-47G>C,\N,\N,2/22,Unknown significance,\N,intron_variant,12.2,0.000015541,EXAC_NFE_AF,ALMS1
442260,2:73646204:G>T,NM_015120.4:c.451-47G>T,\N,\N,2/22,Unknown significance,\N,intron_variant,12.78,0.001,1KG_EUR_AF,ALMS1
442261,2:73646212:G>A,NM_015120.4:c.451-39G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,18.6,0.000121007,EXAC_EAS_AF,ALMS1
442262,2:73646221:T>C,NM_015120.4:c.451-30T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,15.8,0.00155651,EXAC_EAS_AF,ALMS1
442263,2:73646223:A>T,NM_015120.4:c.451-28A>T,\N,\N,2/22,Unknown significance,\N,intron_variant,11.37,0.000104954,EXAC_AFR_AF,ALMS1
442264,2:73646224:G>A,NM_015120.4:c.451-27G>A,\N,\N,2/22,Unknown significance,\N,intron_variant,10.55,0.0000306401,EXAC_NFE_AF,ALMS1
442265,2:73646231:T>C,NM_015120.4:c.451-20T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,11.83,0.000103907,EXAC_AFR_AF,ALMS1
442266,2:73646232:T>C,NM_015120.4:c.451-19T>C,\N,\N,2/22,Unknown significance,\N,intron_variant,11.12,0.0000303472,EXAC_NFE_AF,ALMS1
442267,2:73646234:C>CT,NM_015120.4:c.451-14dup,\N,\N,2/22,Unknown significance,\N,intron_variant,11.74,0.000121581,EXAC_SAS_AF,ALMS1
442268,2:73646246:T>G,NM_015120.4:c.451-5T>G,\N,\N,2/22,Unknown significance,\N,splice_region_variant&intron_variant,4.355,0.00164127,EXAC_EAS_AF,ALMS1
442269,2:73646247:C>G,NM_015120.4:c.451-4C>G,\N,\N,2/22,Unknown significance,\N,splice_region_variant&intron_variant,1.485,0.0000150643,EXAC_NFE_AF,ALMS1
442270,2:73646260:T>A,NM_015120.4:c.460T>A,NP_055935.4:p.Ser155Thr,3/23,\N,Likely benign,\N,missense_variant,24,0.0000450545,EXAC_NFE_AF,ALMS1
442271,2:73646266:C>T,NM_015120.4:c.466C>T,NP_055935.4:p.His157Tyr,3/23,\N,Likely benign,\N,missense_variant,8.948,0.000204207,EXAC_AFR_AF,ALMS1
442272,2:73646271:T>C,NM_015120.4:c.471T>C,NP_055935.4:p.Cys158=,3/23,\N,Unknown significance,\N,synonymous_variant,0.031,0.004,1KG_EAS_AF,ALMS1
442273,2:73646272:C>T,NM_015120.4:c.472C>T,NP_055935.4:p.Leu159Phe,3/23,\N,Unknown significance,\N,missense_variant,23,0.0000149979,EXAC_NFE_AF,ALMS1
442274,2:73646281:G>T,NM_015120.4:c.481G>T,NP_055935.4:p.Glu162Ter,3/23,\N,Unknown significance,\N,stop_gained,36,0.0000149948,EXAC_NFE_AF,ALMS1
442275,2:73646285:T>C,NM_015120.4:c.485T>C,NP_055935.4:p.Met163Thr,3/23,\N,Likely benign,\N,missense_variant,0.026,0.0001221,EVS_EA_AF,ALMS1
442276,2:73646287:G>T,NM_015120.4:c.487G>T,NP_055935.4:p.Asp164Tyr,3/23,\N,Unknown significance,\N,missense_variant,22.7,\N,\N,ALMS1
442277,2:73646301:C>T,NM_015120.4:c.501C>T,NP_055935.4:p.Thr168=,3/23,\N,Unknown significance,\N,synonymous_variant,10.1,0.0000149912,EXAC_NFE_AF,ALMS1
442278,2:73646305:G>T,NM_015120.4:c.505G>T,NP_055935.4:p.Asp170Tyr,3/23,\N,Unknown significance,\N,missense_variant,23.2,0.000173491,EXAC_AMR_AF,ALMS1
442279,2:73646307:T>C,NM_015120.4:c.507T>C,NP_055935.4:p.Asp170=,3/23,\N,Unknown significance,\N,synonymous_variant,0.231,0.0008,1KG_AFR_AF,ALMS1
442280,2:73646311:T>G,NM_015120.4:c.511T>G,NP_055935.4:p.Ser172Ala,3/23,\N,Likely benign,\N,missense_variant,0.871,0.0000867303,EXAC_AMR_AF,ALMS1
442281,2:73646316:G>T,NM_015120.4:c.516G>T,NP_055935.4:p.Gln173His,3/23,\N,Likely benign,\N,missense_variant,11.87,0.0000449694,EXAC_NFE_AF,ALMS1
442282,2:73646317:A>G,NM_015120.4:c.517A>G,NP_055935.4:p.Thr174Ala,3/23,\N,Likely benign,\N,missense_variant,19.17,0.000232396,EXAC_EAS_AF,ALMS1
442283,2:73646319:T>A,NM_015120.4:c.519T>A,NP_055935.4:p.Thr174=,3/23,\N,Unknown significance,\N,synonymous_variant,10.62,0.0000449627,EXAC_NFE_AF,ALMS1
442284,2:73646336:C>T,NM_015120.4:c.536C>T,NP_055935.4:p.Thr180Met,3/23,\N,Likely benign,\N,missense_variant,15.55,0.000348432,EXAC_EAS_AF,ALMS1
442285,2:73646337:G>A,NM_015120.4:c.537G>A,NP_055935.4:p.Thr180=,3/23,\N,Unknown significance,\N,synonymous_variant,5.438,0.0008,1KG_AFR_AF,ALMS1
442286,2:73646340:A>G,NM_015120.4:c.540A>G,NP_055935.4:p.Glu181=,3/23,\N,Unknown significance,\N,synonymous_variant,0.555,0.000060562,EXAC_SAS_AF,ALMS1
442287,2:73646346:T>C,NM_015120.4:c.546T>C,NP_055935.4:p.Thr183=,3/23,\N,Unknown significance,\N,synonymous_variant,0.039,0.0000149898,EXAC_NFE_AF,ALMS1
442288,2:73646357:A>C,NM_015120.4:c.557A>C,NP_055935.4:p.Asp187Ala,3/23,\N,Unknown significance,\N,missense_variant,23.4,0.000269542,EVS_AA_AF,ALMS1
442289,2:73646358:C>T,NM_015120.4:c.558C>T,NP_055935.4:p.Asp187=,3/23,\N,Unknown significance,\N,synonymous_variant,8.442,0.00104554,EXAC_EAS_AF,ALMS1
442290,2:73646365:T>C,NM_015120.4:c.565T>C,NP_055935.4:p.Ser190Pro,3/23,\N,Unknown significance,\N,missense_variant,24.2,0.00007494,EXAC_NFE_AF,ALMS1
442291,2:73646365:T>G,NM_015120.4:c.565T>G,NP_055935.4:p.Ser190Ala,3/23,\N,Unknown significance,\N,missense_variant,23.9,0.000014988,EXAC_NFE_AF,ALMS1
442292,2:73646367:T>G,NM_015120.4:c.567T>G,NP_055935.4:p.Ser190=,3/23,\N,Unknown significance,\N,synonymous_variant,2.882,0.0000605694,EXAC_SAS_AF,ALMS1
442293,2:73646368:C>A,NM_015120.4:c.568C>A,NP_055935.4:p.Leu191Met,3/23,\N,Likely benign,\N,missense_variant,14.43,0.00104578,EXAC_EAS_AF,ALMS1
442294,2:73646371:G>T,NM_015120.4:c.571G>T,NP_055935.4:p.Glu192Ter,3/23,\N,Unknown significance,\N,stop_gained,36,0.00010202,EXAC_AFR_AF,ALMS1
442295,2:73646372:A>T,NM_015120.4:c.572A>T,NP_055935.4:p.Glu192Val,3/23,\N,Unknown significance,\N,missense_variant,26.1,0.00010202,EXAC_AFR_AF,ALMS1
442296,2:73646380:A>T,NM_015120.4:c.580A>T,NP_055935.4:p.Ile195Leu,3/23,\N,Likely benign,\N,missense_variant,0.001,0.0000149894,EXAC_NFE_AF,ALMS1
442297,2:73646383:T>C,NM_015120.4:c.583T>C,NP_055935.4:p.Leu196=,3/23,\N,Unknown significance,\N,synonymous_variant,0.193,0.000060562,EXAC_SAS_AF,ALMS1
442298,2:73646387:C>T,NM_015120.4:c.587C>T,NP_055935.4:p.Thr197Met,3/23,\N,Unknown significance,\N,missense_variant,24.1,0.0008,1KG_AFR_AF,ALMS1
442299,2:73646391:A>G,NM_015120.4:c.591A>G,NP_055935.4:p.Gln198=,3/23,\N,Unknown significance,\N,synonymous_variant,1.421,0.000121981,EVS_EA_AF,ALMS1
442300,2:73646392:TC>T,NM_015120.4:c.593del,NP_055935.4:p.Ser199Ter,3/23,\N,Unknown significance,\N,frameshift_variant,27.9,\N,\N,ALMS1
442301,2:73646396:AAAATCAAG>A,NM_015120.4:c.597_604del,NP_055935.4:p.Glu200AspfsTer19,3/23,\N,Unknown significance,\N,frameshift_variant,33,\N,\N,ALMS1
442302,2:73646399:A>G,NM_015120.4:c.599A>G,NP_055935.4:p.Asn201Ser,3/23,\N,Likely benign,\N,missense_variant,9.646,0.000116171,EXAC_EAS_AF,ALMS1
442303,2:73646401:C>G,NM_015120.4:c.601C>G,NP_055935.4:p.Gln202Glu,3/23,\N,Likely benign,\N,missense_variant,9.85,0.000546747,EVS_AA_AF,ALMS1
442304,2:73646406:A>G,NM_015120.4:c.606A>G,NP_055935.4:p.Val203=,3/23,\N,Unknown significance,\N,synonymous_variant,9.502,0.001,1KG_SAS_AF,ALMS1
442305,2:73646406:AAAG>A,NM_015120.4:c.607_609del,NP_055935.4:p.Lys204del,3/23,\N,Unknown significance,\N,inframe_deletion,9.57,0.000102124,EXAC_AFR_AF,ALMS1
442306,2:73646411:A>C,NM_015120.4:c.611A>C,NP_055935.4:p.Glu205Ala,3/23,\N,Likely benign,\N,missense_variant,23.4,0.00217984,EVS_AA_AF,ALMS1
442307,2:73646412:A>T,NM_015120.4:c.612A>T,NP_055935.4:p.Glu205Asp,3/23,\N,Likely benign,\N,missense_variant,5.969,\N,\N,ALMS1
442308,2:73646414:C>T,NM_015120.4:c.614C>T,NP_055935.4:p.Pro206Leu,3/23,\N,Likely benign,\N,missense_variant,7.773,0.000102145,EXAC_AFR_AF,ALMS1
442309,2:73646415:CAACAGA>C,NM_015120.4:c.616_621del,NP_055935.4:p.Asn207_Arg208del,3/23,\N,Unknown significance,\N,inframe_deletion,16.14,\N,\N,ALMS1
442310,2:73646419:A>G,NM_015120.4:c.619A>G,NP_055935.4:p.Arg208Gly,3/23,\N,Likely benign,\N,missense_variant,23.9,0.0000149921,EXAC_NFE_AF,ALMS1
442311,2:73646422:G>T,NM_015120.4:c.622G>T,NP_055935.4:p.Asp209Tyr,3/23,\N,Likely benign,\N,missense_variant,24,\N,\N,ALMS1
442312,2:73646428:T>C,NM_015120.4:c.628T>C,NP_055935.4:p.Phe211Leu,3/23,\N,Likely benign,\N,missense_variant,6.216,0.000173461,EXAC_AMR_AF,ALMS1
442313,2:73646432:G>C,NM_015120.4:c.632G>C,NP_055935.4:p.Cys212Ser,3/23,\N,Unknown significance,\N,missense_variant,26.1,0.00120956,EXAC_FIN_AF,ALMS1
442314,2:73646438:C>T,NM_015120.4:c.638C>T,NP_055935.4:p.Pro214Leu,3/23,\N,Likely benign,\N,missense_variant,29.3,0.0000150011,EXAC_NFE_AF,ALMS1
442315,2:73646454:C>G,NM_015120.4:c.646+8C>G,\N,\N,3/22,Unknown significance,\N,splice_region_variant&intron_variant,12.51,0.000165135,EXAC_NFE_AF,ALMS1
442316,2:73646457:T>C,NM_015120.4:c.646+11T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,12.68,\N,\N,ALMS1
442317,2:73646459:T>C,NM_015120.4:c.646+13T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,13.43,0.0000150182,EXAC_NFE_AF,ALMS1
442318,2:73646461:T>G,NM_015120.4:c.646+15T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,11.3,0.000244379,EVS_EA_AF,ALMS1
442319,2:73646463:T>C,NM_015120.4:c.646+17T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,11.08,0.0000150213,EXAC_NFE_AF,ALMS1
442320,2:73646467:C>G,NM_015120.4:c.646+21C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,1.565,0.0000606502,EXAC_SAS_AF,ALMS1
442321,2:73646469:A>G,NM_015120.4:c.646+23A>G,\N,\N,3/22,Benign,\N,intron_variant,4.154,0.00745573,EXAC_EAS_AF,ALMS1
442322,2:73646479:C>A,NM_015120.4:c.646+33C>A,\N,\N,3/22,Unknown significance,\N,intron_variant,1.684,0.00111359,EXAC_OTH_AF,ALMS1
442323,2:73646479:C>G,NM_015120.4:c.646+33C>G,\N,\N,3/22,Benign,\N,intron_variant,0.685,0.1377,1KG_AFR_AF,ALMS1
442324,2:73646487:T>C,NM_015120.4:c.646+41T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,7.092,0.00012222,EVS_EA_AF,ALMS1
442325,2:73646488:T>G,NM_015120.4:c.646+42T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,8.412,0.00111359,EXAC_OTH_AF,ALMS1
442326,2:73646498:G>A,NM_015120.4:c.646+52G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,3.189,0.000117371,EXAC_EAS_AF,ALMS1
442327,2:73646541:G>A,NM_015120.4:c.646+95G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,5.996,\N,\N,ALMS1
442328,2:73646583:T>TTTTG,NM_015120.4:c.646+153_646+156dup,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442329,2:73646583:TTTTG>T,NM_015120.4:c.646+153_646+156del,\N,\N,3/22,Unknown significance,\N,intron_variant,4.045,\N,\N,ALMS1
442330,2:73646598:T>G,NM_015120.4:c.646+152T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,1.796,0.0008,1KG_AFR_AF,ALMS1
442331,2:73646620:C>G,NM_015120.4:c.646+174C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,5.975,\N,\N,ALMS1
442332,2:73646633:G>A,NM_015120.4:c.646+187G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,2.144,0.003,1KG_EUR_AF,ALMS1
442333,2:73646661:T>TC,NM_015120.4:c.646+218dup,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442334,2:73646684:A>C,NM_015120.4:c.646+238A>C,\N,\N,3/22,Unknown significance,\N,intron_variant,2.323,\N,\N,ALMS1
442335,2:73646685:A>G,NM_015120.4:c.646+239A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,4.428,0.002,1KG_SAS_AF,ALMS1
442336,2:73646687:G>A,NM_015120.4:c.646+241G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,3.559,0.0038,1KG_AFR_AF,ALMS1
442337,2:73646695:T>C,NM_015120.4:c.646+249T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,2.742,\N,\N,ALMS1
442338,2:73646703:G>C,NM_015120.4:c.646+257G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,0.555,0.0008,1KG_AFR_AF,ALMS1
442339,2:73646791:C>T,NM_015120.4:c.646+345C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,0.93,\N,\N,ALMS1
442340,2:73646821:T>G,NM_015120.4:c.646+375T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,2.777,0.002,1KG_SAS_AF,ALMS1
442341,2:73646825:CT>C,NM_015120.4:c.646+384del,\N,\N,3/22,Benign,\N,intron_variant,3.089,0.0268,1KG_EAS_AF,ALMS1
442342,2:73646830:T>G,NM_015120.4:c.646+384T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,5.413,\N,\N,ALMS1
442343,2:73646832:A>G,NM_015120.4:c.646+386A>G,\N,\N,3/22,Benign,\N,intron_variant,3.7,0.0288,1KG_EAS_AF,ALMS1
442344,2:73646857:GTTA>G,NM_015120.4:c.646+416_646+418del,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442345,2:73646894:A>C,NM_015120.4:c.646+448A>C,\N,\N,3/22,Unknown significance,\N,intron_variant,2.215,\N,\N,ALMS1
442346,2:73646915:G>C,NM_015120.4:c.646+469G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,1.174,0.0041,1KG_SAS_AF,ALMS1
442347,2:73646947:A>G,NM_015120.4:c.646+501A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,1.713,0.001,1KG_EAS_AF,ALMS1
442348,2:73646947:A>T,NM_015120.4:c.646+501A>T,\N,\N,3/22,Unknown significance,\N,intron_variant,0.809,\N,\N,ALMS1
442349,2:73646979:T>C,NM_015120.4:c.646+533T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,10.41,0.001,1KG_SAS_AF,ALMS1
442350,2:73646995:T>A,NM_015120.4:c.646+549T>A,\N,\N,3/22,Unknown significance,\N,intron_variant,8.642,\N,\N,ALMS1
442351,2:73647010:G>A,NM_015120.4:c.646+564G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,1.814,0.0014,1KG_AMR_AF,ALMS1
442352,2:73647020:T>C,NM_015120.4:c.646+574T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,7.988,0.0014,1KG_AMR_AF,ALMS1
442353,2:73647065:A>G,NM_015120.4:c.646+619A>G,\N,\N,3/22,Benign,\N,intron_variant,9.311,0.0061,1KG_AFR_AF,ALMS1
442354,2:73647092:C>A,NM_015120.4:c.646+646C>A,\N,\N,3/22,Benign,\N,intron_variant,16.26,0.0363,1KG_AFR_AF,ALMS1
442355,2:73647099:T>G,NM_015120.4:c.646+653T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,17.11,0.001,1KG_SAS_AF,ALMS1
442356,2:73647118:G>A,NM_015120.4:c.646+672G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,9.882,\N,\N,ALMS1
442357,2:73647125:C>T,NM_015120.4:c.646+679C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,1.33,0.0015,1KG_AFR_AF,ALMS1
442358,2:73647211:A>T,NM_015120.4:c.646+765A>T,\N,\N,3/22,Unknown significance,\N,intron_variant,5.437,\N,\N,ALMS1
442359,2:73647228:T>C,NM_015120.4:c.646+782T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,5.325,0.001,1KG_EAS_AF,ALMS1
442360,2:73647276:A>G,NM_015120.4:c.646+830A>G,\N,\N,3/22,Benign,\N,intron_variant,4.237,0.1407,1KG_AFR_AF,ALMS1
442361,2:73647285:A>G,NM_015120.4:c.646+839A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,4.666,0.003,1KG_AFR_AF,ALMS1
442362,2:73647290:G>A,NM_015120.4:c.646+844G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,3.684,0.0029,1KG_AMR_AF,ALMS1
442363,2:73647294:CTT>C,NM_015120.4:c.646+849_646+850del,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442364,2:73647324:T>C,NM_015120.4:c.646+878T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,8.12,0.001,1KG_EUR_AF,ALMS1
442365,2:73647328:A>G,NM_015120.4:c.646+882A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,10.93,0.001,1KG_SAS_AF,ALMS1
442366,2:73647329:G>A,NM_015120.4:c.646+883G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,9.804,0.001,1KG_SAS_AF,ALMS1
442367,2:73647342:G>A,NM_015120.4:c.646+896G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,5.962,0.0041,1KG_SAS_AF,ALMS1
442368,2:73647373:A>G,NM_015120.4:c.646+927A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,9.442,0.0008,1KG_AFR_AF,ALMS1
442369,2:73647374:C>T,NM_015120.4:c.646+928C>T,\N,\N,3/22,Benign,\N,intron_variant,6.996,0.0061,1KG_AFR_AF,ALMS1
442370,2:73647377:C>T,NM_015120.4:c.646+931C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,9.277,\N,\N,ALMS1
442371,2:73647403:A>G,NM_015120.4:c.646+957A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,6.637,\N,\N,ALMS1
442372,2:73647404:C>T,NM_015120.4:c.646+958C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,8.002,\N,\N,ALMS1
442373,2:73647431:T>C,NM_015120.4:c.646+985T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,2.683,0.001,1KG_EAS_AF,ALMS1
442374,2:73647452:G>T,NM_015120.4:c.646+1006G>T,\N,\N,3/22,Unknown significance,\N,intron_variant,1.352,\N,\N,ALMS1
442375,2:73647468:G>A,NM_015120.4:c.646+1022G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,0.36,0.001,1KG_SAS_AF,ALMS1
442376,2:73647500:C>T,NM_015120.4:c.646+1054C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,1.71,0.0008,1KG_AFR_AF,ALMS1
442377,2:73647508:G>A,NM_015120.4:c.646+1062G>A,\N,\N,3/22,Benign,\N,intron_variant,2.813,0.8593,1KG_AFR_AF,ALMS1
442378,2:73647563:T>A,NM_015120.4:c.646+1117T>A,\N,\N,3/22,Unknown significance,\N,intron_variant,8.56,\N,\N,ALMS1
442379,2:73647567:C>G,NM_015120.4:c.646+1121C>G,\N,\N,3/22,Benign,\N,intron_variant,10.21,0.0051,1KG_SAS_AF,ALMS1
442380,2:73647627:G>C,NM_015120.4:c.646+1181G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,0.59,\N,\N,ALMS1
442381,2:73647665:T>G,NM_015120.4:c.646+1219T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,2.047,\N,\N,ALMS1
442382,2:73647684:A>G,NM_015120.4:c.646+1238A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,0.824,\N,\N,ALMS1
442383,2:73647685:G>A,NM_015120.4:c.646+1239G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,0.893,\N,\N,ALMS1
442384,2:73647700:G>A,NM_015120.4:c.646+1254G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,0.827,\N,\N,ALMS1
442385,2:73647716:A>G,NM_015120.4:c.646+1270A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,2.349,\N,\N,ALMS1
442386,2:73647718:A>G,NM_015120.4:c.646+1272A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,3.266,\N,\N,ALMS1
442387,2:73647720:G>A,NM_015120.4:c.646+1274G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,1.644,\N,\N,ALMS1
442388,2:73647753:T>A,NM_015120.4:c.646+1307T>A,\N,\N,3/22,Unknown significance,\N,intron_variant,4.912,\N,\N,ALMS1
442389,2:73647842:A>G,NM_015120.4:c.646+1396A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,8.577,\N,\N,ALMS1
442390,2:73647869:T>G,NM_015120.4:c.646+1423T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,6.88,0.004,1KG_EAS_AF,ALMS1
442391,2:73647874:T>C,NM_015120.4:c.646+1428T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,2.904,\N,\N,ALMS1
442392,2:73647900:T>C,NM_015120.4:c.646+1454T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,3.234,\N,\N,ALMS1
442393,2:73647908:G>C,NM_015120.4:c.646+1462G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,0.9,\N,\N,ALMS1
442394,2:73647917:A>T,NM_015120.4:c.646+1471A>T,\N,\N,3/22,Unknown significance,\N,intron_variant,2.048,0.001,1KG_EUR_AF,ALMS1
442395,2:73647924:A>T,NM_015120.4:c.646+1478A>T,\N,\N,3/22,Unknown significance,\N,intron_variant,1.071,0.0008,1KG_AFR_AF,ALMS1
442396,2:73647948:T>C,NM_015120.4:c.646+1502T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,5.692,0.001,1KG_EAS_AF,ALMS1
442397,2:73647961:A>G,NM_015120.4:c.646+1515A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,1.784,0.0023,1KG_AFR_AF,ALMS1
442398,2:73647964:AG>A,NM_015120.4:c.646+1519del,\N,\N,3/22,Unknown significance,\N,intron_variant,0.164,\N,\N,ALMS1
442399,2:73647980:T>C,NM_015120.4:c.646+1534T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,2.836,\N,\N,ALMS1
442400,2:73647992:C>T,NM_015120.4:c.646+1546C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,3.428,\N,\N,ALMS1
442401,2:73648043:C>T,NM_015120.4:c.646+1597C>T,\N,\N,3/22,Benign,\N,intron_variant,14.64,0.0688,1KG_AFR_AF,ALMS1
442402,2:73648045:C>A,NM_015120.4:c.646+1599C>A,\N,\N,3/22,Unknown significance,\N,intron_variant,14.32,\N,\N,ALMS1
442403,2:73648059:G>C,NM_015120.4:c.646+1613G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,0.626,0.001,1KG_EAS_AF,ALMS1
442404,2:73648060:C>A,NM_015120.4:c.646+1614C>A,\N,\N,3/22,Unknown significance,\N,intron_variant,2.566,\N,\N,ALMS1
442405,2:73648074:A>G,NM_015120.4:c.646+1628A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,0.481,\N,\N,ALMS1
442406,2:73648078:C>T,NM_015120.4:c.646+1632C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,2.224,\N,\N,ALMS1
442407,2:73648142:C>G,NM_015120.4:c.646+1696C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,2.401,0.001,1KG_EAS_AF,ALMS1
442408,2:73648184:A>G,NM_015120.4:c.646+1738A>G,\N,\N,3/22,Benign,\N,intron_variant,1.728,0.1383,1KG_AMR_AF,ALMS1
442409,2:73648195:C>G,NM_015120.4:c.646+1749C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,0.631,0.0008,1KG_AFR_AF,ALMS1
442410,2:73648220:A>G,NM_015120.4:c.647-1765A>G,\N,\N,3/22,Benign,\N,intron_variant,6.364,0.0371,1KG_AFR_AF,ALMS1
442411,2:73648227:A>G,NM_015120.4:c.647-1758A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,2.168,0.001,1KG_EUR_AF,ALMS1
442412,2:73648315:C>T,NM_015120.4:c.647-1670C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,5.165,\N,\N,ALMS1
442413,2:73648330:C>A,NM_015120.4:c.647-1655C>A,\N,\N,3/22,Benign,\N,intron_variant,3.129,0.006,1KG_EUR_AF,ALMS1
442414,2:73648335:CCTTA>C,NM_015120.4:c.647-1645_647-1642del,\N,\N,3/22,Unknown significance,\N,intron_variant,5.531,\N,\N,ALMS1
442415,2:73648339:A>C,NM_015120.4:c.647-1646A>C,\N,\N,3/22,Unknown significance,\N,intron_variant,1.568,0.0008,1KG_AFR_AF,ALMS1
442416,2:73648379:G>T,NM_015120.4:c.647-1606G>T,\N,\N,3/22,Unknown significance,\N,intron_variant,2.856,\N,\N,ALMS1
442417,2:73648385:T>G,NM_015120.4:c.647-1600T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,4.148,0.001,1KG_EUR_AF,ALMS1
442418,2:73648412:A>AT,NM_015120.4:c.647-1565dup,\N,\N,3/22,Unknown significance,\N,intron_variant,0.192,\N,\N,ALMS1
442419,2:73648417:T>C,NM_015120.4:c.647-1568T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,1.384,\N,\N,ALMS1
442420,2:73648440:C>G,NM_015120.4:c.647-1545C>G,\N,\N,3/22,Benign,\N,intron_variant,1.041,0.0139,1KG_EUR_AF,ALMS1
442421,2:73648509:T>C,NM_015120.4:c.647-1476T>C,\N,\N,3/22,Benign,\N,intron_variant,2.349,0.0092,1KG_SAS_AF,ALMS1
442422,2:73648533:G>A,NM_015120.4:c.647-1452G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,13.64,0.0023,1KG_AFR_AF,ALMS1
442423,2:73648545:A>C,NM_015120.4:c.647-1440A>C,\N,\N,3/22,Unknown significance,\N,intron_variant,12.38,\N,\N,ALMS1
442424,2:73648568:G>C,NM_015120.4:c.647-1417G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,0.96,0.002,1KG_EAS_AF,ALMS1
442425,2:73648600:T>A,NM_015120.4:c.647-1385T>A,\N,\N,3/22,Unknown significance,\N,intron_variant,9.685,\N,\N,ALMS1
442426,2:73648604:C>T,NM_015120.4:c.647-1381C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,6.445,0.001,1KG_EUR_AF,ALMS1
442427,2:73648613:G>A,NM_015120.4:c.647-1372G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,5.958,0.001,1KG_EAS_AF,ALMS1
442428,2:73648615:C>T,NM_015120.4:c.647-1370C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,6.051,0.0038,1KG_AFR_AF,ALMS1
442429,2:73648641:C>G,NM_015120.4:c.647-1344C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,9.318,\N,\N,ALMS1
442430,2:73648649:C>G,NM_015120.4:c.647-1336C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,2.324,\N,\N,ALMS1
442431,2:73648669:C>A,NM_015120.4:c.647-1316C>A,\N,\N,3/22,Unknown significance,\N,intron_variant,3.276,0.0014,1KG_AMR_AF,ALMS1
442432,2:73648681:T>A,NM_015120.4:c.647-1304T>A,\N,\N,3/22,Benign,\N,intron_variant,7.514,0.0673,1KG_AFR_AF,ALMS1
442433,2:73648692:C>A,NM_015120.4:c.647-1293C>A,\N,\N,3/22,Unknown significance,\N,intron_variant,8.419,0.0008,1KG_AFR_AF,ALMS1
442434,2:73648737:G>A,NM_015120.4:c.647-1248G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,5.761,\N,\N,ALMS1
442435,2:73648755:A>T,NM_015120.4:c.647-1230A>T,\N,\N,3/22,Unknown significance,\N,intron_variant,7.921,0.001,1KG_EUR_AF,ALMS1
442436,2:73648811:G>T,NM_015120.4:c.647-1174G>T,\N,\N,3/22,Benign,\N,intron_variant,1.345,0.6006,1KG_AFR_AF,ALMS1
442437,2:73648937:C>G,NM_015120.4:c.647-1048C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,1.627,\N,\N,ALMS1
442438,2:73648987:C>T,NM_015120.4:c.647-998C>T,\N,\N,3/22,Benign,\N,intron_variant,2.825,0.0227,1KG_AFR_AF,ALMS1
442439,2:73648988:A>T,NM_015120.4:c.647-997A>T,\N,\N,3/22,Unknown significance,\N,intron_variant,3.784,\N,\N,ALMS1
442440,2:73648999:A>T,NM_015120.4:c.647-986A>T,\N,\N,3/22,Unknown significance,\N,intron_variant,3.024,\N,\N,ALMS1
442441,2:73649007:A>G,NM_015120.4:c.647-978A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,5.711,0.0029,1KG_AMR_AF,ALMS1
442442,2:73649050:G>A,NM_015120.4:c.647-935G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,8.712,\N,\N,ALMS1
442443,2:73649076:CA>C,NM_015120.4:c.647-907del,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442444,2:73649082:T>C,NM_015120.4:c.647-903T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,3.614,0.0038,1KG_AFR_AF,ALMS1
442445,2:73649104:G>T,NM_015120.4:c.647-881G>T,\N,\N,3/22,Benign,\N,intron_variant,11.49,0.0197,1KG_AFR_AF,ALMS1
442446,2:73649141:T>C,NM_015120.4:c.647-844T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,1.941,\N,\N,ALMS1
442447,2:73649149:TACTG>T,NM_015120.4:c.647-833_647-830del,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442448,2:73649162:A>G,NM_015120.4:c.647-823A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,3.482,\N,\N,ALMS1
442449,2:73649225:T>G,NM_015120.4:c.647-760T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,1.183,\N,\N,ALMS1
442450,2:73649246:T>A,NM_015120.4:c.647-739T>A,\N,\N,3/22,Unknown significance,\N,intron_variant,4.463,0.002,1KG_SAS_AF,ALMS1
442451,2:73649248:G>A,NM_015120.4:c.647-737G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,1.139,0.002,1KG_SAS_AF,ALMS1
442452,2:73649273:TAAC>T,NM_015120.4:c.647-711_647-709del,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442453,2:73649276:CT>C,NM_015120.4:c.647-705del,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442454,2:73649293:T>C,NM_015120.4:c.647-692T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,1.924,\N,\N,ALMS1
442455,2:73649297:T>G,NM_015120.4:c.647-688T>G,\N,\N,3/22,Unknown significance,\N,intron_variant,3.651,0.001,1KG_SAS_AF,ALMS1
442456,2:73649306:G>A,NM_015120.4:c.647-679G>A,\N,\N,3/22,Benign,\N,intron_variant,2.08,0.0673,1KG_AFR_AF,ALMS1
442457,2:73649352:A>G,NM_015120.4:c.647-633A>G,\N,\N,3/22,Benign,\N,intron_variant,2.358,0.9438,1KG_AMR_AF,ALMS1
442458,2:73649377:C>T,NM_015120.4:c.647-608C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,3.457,0.001,1KG_SAS_AF,ALMS1
442459,2:73649410:G>C,NM_015120.4:c.647-575G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,1.333,0.001,1KG_SAS_AF,ALMS1
442460,2:73649470:A>G,NM_015120.4:c.647-515A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,6.25,0.001,1KG_EAS_AF,ALMS1
442461,2:73649505:T>C,NM_015120.4:c.647-480T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,2.373,\N,\N,ALMS1
442462,2:73649543:C>T,NM_015120.4:c.647-442C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,2.979,0.001,1KG_EAS_AF,ALMS1
442463,2:73649547:G>A,NM_015120.4:c.647-438G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,1.945,0.001,1KG_EAS_AF,ALMS1
442464,2:73649551:T>G,NM_015120.4:c.647-434T>G,\N,\N,3/22,Benign,\N,intron_variant,2.932,0.0079,1KG_EAS_AF,ALMS1
442465,2:73649564:CG>C,NM_015120.4:c.647-418del,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442466,2:73649567:G>T,NM_015120.4:c.647-418G>T,\N,\N,3/22,Benign,\N,intron_variant,0.803,0.1964,1KG_EAS_AF,ALMS1
442467,2:73649618:C>T,NM_015120.4:c.647-367C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,1.33,\N,\N,ALMS1
442468,2:73649623:G>T,NM_015120.4:c.647-362G>T,\N,\N,3/22,Unknown significance,\N,intron_variant,2.316,0.001,1KG_EAS_AF,ALMS1
442469,2:73649661:G>A,NM_015120.4:c.647-324G>A,\N,\N,3/22,Benign,\N,intron_variant,7.751,0.0358,1KG_EUR_AF,ALMS1
442470,2:73649696:A>G,NM_015120.4:c.647-289A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,4.081,0.001,1KG_EUR_AF,ALMS1
442471,2:73649707:G>A,NM_015120.4:c.647-278G>A,\N,\N,3/22,Unknown significance,\N,intron_variant,3.315,\N,\N,ALMS1
442472,2:73649733:T>G,NM_015120.4:c.647-252T>G,\N,\N,3/22,Benign,\N,intron_variant,3.504,0.9438,1KG_AMR_AF,ALMS1
442473,2:73649809:A>G,NM_015120.4:c.647-176A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,3.747,0.0029,1KG_AMR_AF,ALMS1
442474,2:73649816:C>G,NM_015120.4:c.647-169C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,2.17,0.001,1KG_EAS_AF,ALMS1
442475,2:73649875:T>A,NM_015120.4:c.647-110T>A,\N,\N,3/22,Unknown significance,\N,intron_variant,7.277,0.001,1KG_EUR_AF,ALMS1
442476,2:73649905:A>G,NM_015120.4:c.647-80A>G,\N,\N,3/22,Benign,\N,intron_variant,6.175,0.1437,1KG_AFR_AF,ALMS1
442477,2:73649910:C>CT,NM_015120.4:c.647-72dup,\N,\N,3/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442478,2:73649927:C>T,NM_015120.4:c.647-58C>T,\N,\N,3/22,Unknown significance,\N,intron_variant,3.051,0.001,1KG_EUR_AF,ALMS1
442479,2:73649928:G>A,NM_015120.4:c.647-57G>A,\N,\N,3/22,Benign,\N,intron_variant,5.603,0.7852,1KG_AFR_AF,ALMS1
442480,2:73649936:A>G,NM_015120.4:c.647-49A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,8.584,0.000060584,EXAC_SAS_AF,ALMS1
442481,2:73649940:T>A,NM_015120.4:c.647-45T>A,\N,\N,3/22,Unknown significance,\N,intron_variant,10.4,0.0000605914,EXAC_SAS_AF,ALMS1
442482,2:73649940:T>C,NM_015120.4:c.647-45T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,8.428,0.000014993,EXAC_NFE_AF,ALMS1
442483,2:73649941:C>G,NM_015120.4:c.647-44C>G,\N,\N,3/22,Unknown significance,\N,intron_variant,4.54,0.0000149934,EXAC_NFE_AF,ALMS1
442484,2:73649943:A>G,NM_015120.4:c.647-42A>G,\N,\N,3/22,Unknown significance,\N,intron_variant,7.195,0.000551876,EVS_AA_AF,ALMS1
442485,2:73649950:G>C,NM_015120.4:c.647-35G>C,\N,\N,3/22,Unknown significance,\N,intron_variant,14.27,0.00042414,EXAC_SAS_AF,ALMS1
442486,2:73649951:C>A,NM_015120.4:c.647-34C>A,\N,\N,3/22,Unknown significance,\N,intron_variant,16,0.00012276,EVS_EA_AF,ALMS1
442487,2:73649954:T>C,NM_015120.4:c.647-31T>C,\N,\N,3/22,Unknown significance,\N,intron_variant,16.11,0.000060584,EXAC_SAS_AF,ALMS1
442488,2:73649956:C>A,NM_015120.4:c.647-29C>A,\N,\N,3/22,Unknown significance,\N,intron_variant,17.39,0.000102166,EXAC_AFR_AF,ALMS1
442489,2:73649987:A>G,NM_015120.4:c.649A>G,NP_055935.4:p.Ile218Val,4/23,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.5,0.000366838,EVS_EA_AF,ALMS1
442490,2:73649988:T>C,NM_015120.4:c.650T>C,NP_055935.4:p.Ile218Thr,4/23,\N,Likely benign,\N,missense_variant,25.1,0.00004496,EXAC_NFE_AF,ALMS1
442491,2:73649989:A>G,NM_015120.4:c.651A>G,NP_055935.4:p.Ile218Met,4/23,\N,Unknown significance,\N,missense_variant,25.5,0.0000299733,EXAC_NFE_AF,ALMS1
442492,2:73649992:A>G,NM_015120.4:c.654A>G,NP_055935.4:p.Gln219=,4/23,\N,Unknown significance,\N,synonymous_variant,6.449,0.001,1KG_EAS_AF,ALMS1
442493,2:73649993:G>A,NM_015120.4:c.655G>A,NP_055935.4:p.Asp220Asn,4/23,\N,Unknown significance,\N,missense_variant,30,\N,\N,ALMS1
442494,2:73650009:C>A,NM_015120.4:c.671C>A,NP_055935.4:p.Pro225His,4/23,\N,Benign,\N,missense_variant,29.6,0.0673,1KG_AFR_AF,ALMS1
442495,2:73650011:G>A,NM_015120.4:c.673G>A,NP_055935.4:p.Asp226Asn,4/23,\N,Likely benign,\N,missense_variant,23.4,0.0000605767,EXAC_SAS_AF,ALMS1
442496,2:73650017:C>T,NM_015120.4:c.679C>T,NP_055935.4:p.Pro228Ser,4/23,\N,Unknown significance,\N,missense_variant,29,0.0000149853,EXAC_NFE_AF,ALMS1
442497,2:73650021:T>A,NM_015120.4:c.683T>A,NP_055935.4:p.Leu229Ter,4/23,\N,Unknown significance,\N,stop_gained,37,0.0000149853,EXAC_NFE_AF,ALMS1
442498,2:73650027:C>A,NM_015120.4:c.689C>A,NP_055935.4:p.Thr231Asn,4/23,\N,Unknown significance,\N,missense_variant,27.5,0.000121743,EVS_EA_AF,ALMS1
442499,2:73650035:A>T,NM_015120.4:c.697A>T,NP_055935.4:p.Thr234Ser,4/23,\N,Likely benign,\N,missense_variant,22.9,0.0000149853,EXAC_NFE_AF,ALMS1
442500,2:73650038:C>T,NM_015120.4:c.700C>T,NP_055935.4:p.Gln235Ter,4/23,\N,Unknown significance,\N,stop_gained,36,0.0000605767,EXAC_SAS_AF,ALMS1
442501,2:73650043:C>T,NM_015120.4:c.705C>T,NP_055935.4:p.Asp236=,4/23,\N,Unknown significance,\N,synonymous_variant,10.79,0.0000865651,EXAC_AMR_AF,ALMS1
442502,2:73650054:C>T,NM_015120.4:c.716C>T,NP_055935.4:p.Ala240Val,4/23,\N,Likely benign,\N,missense_variant,11.05,0.000121862,EVS_EA_AF,ALMS1
442503,2:73650055:G>A,NM_015120.4:c.717G>A,NP_055935.4:p.Ala240=,4/23,\N,Unknown significance,\N,synonymous_variant,6.377,0.000268817,EVS_AA_AF,ALMS1
442504,2:73650057:C>T,NM_015120.4:c.719C>T,NP_055935.4:p.Pro241Leu,4/23,\N,Likely benign,\N,missense_variant,13.08,0.000115955,EXAC_EAS_AF,ALMS1
442505,2:73650063:C>A,NM_015120.4:c.725C>A,NP_055935.4:p.Ser243Tyr,4/23,\N,Unknown significance,\N,missense_variant,26.1,0.000115955,EXAC_EAS_AF,ALMS1
442506,2:73650075:A>C,NM_015120.4:c.737A>C,NP_055935.4:p.Gln247Pro,4/23,\N,Likely benign,\N,missense_variant,10.4,0.0000865801,EXAC_AMR_AF,ALMS1
442507,2:73650091:T>TA,NM_015120.4:c.753_754insA,NP_055935.4:p.Ala253SerfsTer8,4/23,\N,Unknown significance,\N,frameshift_variant,35,0.0000865501,EXAC_AMR_AF,ALMS1
442508,2:73650095:C>T,NM_015120.4:c.757C>T,NP_055935.4:p.Pro254Ser,4/23,\N,Likely benign,\N,missense_variant,24.3,0.000269833,EVS_AA_AF,ALMS1
442509,2:73650096:C>G,NM_015120.4:c.758C>G,NP_055935.4:p.Pro254Arg,4/23,\N,Likely benign,\N,missense_variant,26.5,0.0000605694,EXAC_SAS_AF,ALMS1
442510,2:73650097:T>A,NM_015120.4:c.759T>A,NP_055935.4:p.Pro254=,4/23,\N,Unknown significance,\N,synonymous_variant,8.651,0.000918555,EXAC_AFR_AF,ALMS1
442511,2:73650098:C>G,NM_015120.4:c.760C>G,NP_055935.4:p.Leu255Val,4/23,\N,Unknown significance,\N,missense_variant,25.6,0.0000605694,EXAC_SAS_AF,ALMS1
442512,2:73650098:C>T,NM_015120.4:c.760C>T,NP_055935.4:p.Leu255=,4/23,\N,Unknown significance,\N,synonymous_variant,13.78,0.0000149867,EXAC_NFE_AF,ALMS1
442513,2:73650100:G>A,NM_015120.4:c.762G>A,NP_055935.4:p.Leu255=,4/23,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.58,\N,\N,ALMS1
442514,2:73650102:G>A,NM_015120.4:c.764G>A,NP_055935.4:p.Arg256Lys,4/23,\N,Likely pathogenic,\N,missense_variant&splice_region_variant,28,\N,\N,ALMS1
442515,2:73650105:A>G,NM_015120.4:c.764+3A>G,\N,\N,4/22,Unknown significance,\N,splice_region_variant&intron_variant,13.92,0.0000149867,EXAC_NFE_AF,ALMS1
442516,2:73650108:A>G,NM_015120.4:c.764+6A>G,\N,\N,4/22,Unknown significance,\N,splice_region_variant&intron_variant,11.59,0.0000605694,EXAC_SAS_AF,ALMS1
442517,2:73650109:T>C,NM_015120.4:c.764+7T>C,\N,\N,4/22,Unknown significance,\N,splice_region_variant&intron_variant,10.14,0.0000605694,EXAC_SAS_AF,ALMS1
442518,2:73650109:T>G,NM_015120.4:c.764+7T>G,\N,\N,4/22,Unknown significance,\N,splice_region_variant&intron_variant,11.42,0.0000149867,EXAC_NFE_AF,ALMS1
442519,2:73650111:A>T,NM_015120.4:c.764+9A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,14.7,0.001,1KG_SAS_AF,ALMS1
442520,2:73650112:T>G,NM_015120.4:c.764+10T>G,\N,\N,4/22,Unknown significance,\N,intron_variant,14.45,0.0000149867,EXAC_NFE_AF,ALMS1
442521,2:73650114:T>C,NM_015120.4:c.764+12T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,12.77,0.0000867152,EXAC_AMR_AF,ALMS1
442522,2:73650122:T>A,NM_015120.4:c.764+20T>A,\N,\N,4/22,Benign,\N,intron_variant,9.517,0.7877,1KG_EAS_AF,ALMS1
442523,2:73650128:C>G,NM_015120.4:c.764+26C>G,\N,\N,4/22,Unknown significance,\N,intron_variant,7.876,\N,\N,ALMS1
442524,2:73650131:T>C,NM_015120.4:c.764+29T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,5.759,0.000164893,EXAC_NFE_AF,ALMS1
442525,2:73650132:C>T,NM_015120.4:c.764+30C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,5.555,0.0000149916,EXAC_NFE_AF,ALMS1
442526,2:73650137:T>C,NM_015120.4:c.764+35T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,4.812,0.0000868659,EXAC_AMR_AF,ALMS1
442527,2:73650139:C>T,NM_015120.4:c.764+37C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,4.552,0.0000149916,EXAC_NFE_AF,ALMS1
442528,2:73650142:G>A,NM_015120.4:c.764+40G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,3.444,0.000173943,EXAC_AMR_AF,ALMS1
442529,2:73650142:G>T,NM_015120.4:c.764+40G>T,\N,\N,4/22,Unknown significance,\N,intron_variant,1.203,0.000173943,EXAC_AMR_AF,ALMS1
442530,2:73650145:C>G,NM_015120.4:c.764+43C>G,\N,\N,4/22,Unknown significance,\N,intron_variant,2.79,0.0000869868,EXAC_AMR_AF,ALMS1
442531,2:73650145:C>T,NM_015120.4:c.764+43C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,4.293,0.00162451,EXAC_EAS_AF,ALMS1
442532,2:73650147:A>G,NM_015120.4:c.764+45A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,5.798,0.000102082,EXAC_AFR_AF,ALMS1
442533,2:73650165:G>C,NM_015120.4:c.764+63G>C,\N,\N,4/22,Unknown significance,\N,intron_variant,7.781,\N,\N,ALMS1
442534,2:73650166:T>G,NM_015120.4:c.764+64T>G,\N,\N,4/22,Unknown significance,\N,intron_variant,12.31,\N,\N,ALMS1
442535,2:73650205:A>T,NM_015120.4:c.764+103A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,1.507,\N,\N,ALMS1
442536,2:73650219:C>T,NM_015120.4:c.764+117C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,0.259,0.002,1KG_EUR_AF,ALMS1
442537,2:73650220:G>T,NM_015120.4:c.764+118G>T,\N,\N,4/22,Unknown significance,\N,intron_variant,0.261,0.001,1KG_SAS_AF,ALMS1
442538,2:73650225:G>A,NM_015120.4:c.764+123G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,5.361,0.003,1KG_EAS_AF,ALMS1
442539,2:73650229:G>A,NM_015120.4:c.764+127G>A,\N,\N,4/22,Benign,\N,intron_variant,4.586,0.0696,1KG_AFR_AF,ALMS1
442540,2:73650254:G>C,NM_015120.4:c.764+152G>C,\N,\N,4/22,Unknown significance,\N,intron_variant,5.776,0.0015,1KG_AFR_AF,ALMS1
442541,2:73650257:G>A,NM_015120.4:c.764+155G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,7.67,0.001,1KG_EUR_AF,ALMS1
442542,2:73650265:A>C,NM_015120.4:c.764+163A>C,\N,\N,4/22,Unknown significance,\N,intron_variant,9.469,\N,\N,ALMS1
442543,2:73650345:T>C,NM_015120.4:c.764+243T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,8.54,0.002,1KG_EUR_AF,ALMS1
442544,2:73650401:C>T,NM_015120.4:c.764+299C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,4.583,0.001,1KG_SAS_AF,ALMS1
442545,2:73650421:C>G,NM_015120.4:c.764+319C>G,\N,\N,4/22,Unknown significance,\N,intron_variant,3.404,\N,\N,ALMS1
442546,2:73650453:G>A,NM_015120.4:c.764+351G>A,\N,\N,4/22,Benign,\N,intron_variant,5.967,0.0151,1KG_AFR_AF,ALMS1
442547,2:73650468:T>C,NM_015120.4:c.764+366T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,1.355,0.001,1KG_EAS_AF,ALMS1
442548,2:73650470:A>G,NM_015120.4:c.764+368A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,4.351,\N,\N,ALMS1
442549,2:73650482:G>A,NM_015120.4:c.764+380G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,4.348,\N,\N,ALMS1
442550,2:73650535:C>T,NM_015120.4:c.764+433C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,3.465,0.0008,1KG_AFR_AF,ALMS1
442551,2:73650543:G>A,NM_015120.4:c.764+441G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,3.539,\N,\N,ALMS1
442552,2:73650552:A>G,NM_015120.4:c.764+450A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,0.316,0.0008,1KG_AFR_AF,ALMS1
442553,2:73650582:C>T,NM_015120.4:c.764+480C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,2.357,0.002,1KG_SAS_AF,ALMS1
442554,2:73650597:A>G,NM_015120.4:c.764+495A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,3.019,0.002,1KG_SAS_AF,ALMS1
442555,2:73650605:C>G,NM_015120.4:c.764+503C>G,\N,\N,4/22,Unknown significance,\N,intron_variant,2.792,0.0008,1KG_AFR_AF,ALMS1
442556,2:73650612:A>G,NM_015120.4:c.764+510A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,12.96,0.0015,1KG_AFR_AF,ALMS1
442557,2:73650662:A>G,NM_015120.4:c.764+560A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,11.83,0.0015,1KG_AFR_AF,ALMS1
442558,2:73650671:A>T,NM_015120.4:c.764+569A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,11.03,0.001,1KG_EAS_AF,ALMS1
442559,2:73650680:G>T,NM_015120.4:c.764+578G>T,\N,\N,4/22,Unknown significance,\N,intron_variant,9.503,\N,\N,ALMS1
442560,2:73650695:T>C,NM_015120.4:c.764+593T>C,\N,\N,4/22,Benign,\N,intron_variant,2.084,0.9438,1KG_AMR_AF,ALMS1
442561,2:73650705:G>GAAAACCCACCTTAAATT,NM_015120.4:c.764+608_764+624dup,\N,\N,4/22,Benign,\N,intron_variant,0.433,0.6331,1KG_AFR_AF,ALMS1
442562,2:73650726:A>ACCC,NM_015120.4:c.764+624_764+625insCCC,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442563,2:73650728:C>CCT,NM_015120.4:c.764+626_764+627insCT,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442564,2:73650730:A>AAAT,NM_015120.4:c.764+628_764+629insAAT,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442565,2:73650730:A>G,NM_015120.4:c.764+628A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,14.22,0.001,1KG_SAS_AF,ALMS1
442566,2:73650733:G>A,NM_015120.4:c.764+631G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,16.12,\N,\N,ALMS1
442567,2:73650735:T>A,NM_015120.4:c.764+633T>A,\N,\N,4/22,Unknown significance,\N,intron_variant,18.6,\N,\N,ALMS1
442568,2:73650736:G>A,NM_015120.4:c.764+634G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,16.86,\N,\N,ALMS1
442569,2:73650737:T>C,NM_015120.4:c.764+635T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,16.48,\N,\N,ALMS1
442570,2:73650743:A>T,NM_015120.4:c.764+641A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,13.3,\N,\N,ALMS1
442571,2:73650744:A>G,NM_015120.4:c.764+642A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,12.86,\N,\N,ALMS1
442572,2:73650745:G>T,NM_015120.4:c.764+643G>T,\N,\N,4/22,Unknown significance,\N,intron_variant,11.6,\N,\N,ALMS1
442573,2:73650747:A>T,NM_015120.4:c.764+645A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,11.8,\N,\N,ALMS1
442574,2:73650751:A>AGTAACCTCT,NM_015120.4:c.764+652_764+660dup,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442575,2:73650751:AGTAACCTCT>A,NM_015120.4:c.764+652_764+660del,\N,\N,4/22,Benign,\N,intron_variant,12.47,0.7867,1KG_AFR_AF,ALMS1
442576,2:73650755:ACCTCTGTCC>A,NM_015120.4:c.764+654_764+662del,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442577,2:73650756:C>A,NM_015120.4:c.764+654C>A,\N,\N,4/22,Unknown significance,\N,intron_variant,8.057,\N,\N,ALMS1
442578,2:73650756:CCT>C,NM_015120.4:c.764+657_764+658del,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442579,2:73650757:C>A,NM_015120.4:c.764+655C>A,\N,\N,4/22,Unknown significance,\N,intron_variant,5.442,\N,\N,ALMS1
442580,2:73650758:T>A,NM_015120.4:c.764+656T>A,\N,\N,4/22,Unknown significance,\N,intron_variant,5.231,\N,\N,ALMS1
442581,2:73650790:A>C,NM_015120.4:c.764+688A>C,\N,\N,4/22,Unknown significance,\N,intron_variant,7.57,0.001,1KG_EUR_AF,ALMS1
442582,2:73650806:A>G,NM_015120.4:c.764+704A>G,\N,\N,4/22,Benign,\N,intron_variant,10.97,0.0347,1KG_EAS_AF,ALMS1
442583,2:73650808:C>T,NM_015120.4:c.764+706C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,10.78,0.001,1KG_SAS_AF,ALMS1
442584,2:73650873:T>A,NM_015120.4:c.765-685T>A,\N,\N,4/22,Unknown significance,\N,intron_variant,7.907,\N,\N,ALMS1
442585,2:73650889:C>T,NM_015120.4:c.765-669C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,3.247,\N,\N,ALMS1
442586,2:73650901:G>C,NM_015120.4:c.765-657G>C,\N,\N,4/22,Unknown significance,\N,intron_variant,0.017,0.004,1KG_EAS_AF,ALMS1
442587,2:73650920:T>C,NM_015120.4:c.765-638T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,1.316,\N,\N,ALMS1
442588,2:73650927:A>G,NM_015120.4:c.765-631A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,2.078,\N,\N,ALMS1
442589,2:73650993:A>C,NM_015120.4:c.765-565A>C,\N,\N,4/22,Unknown significance,\N,intron_variant,0.658,\N,\N,ALMS1
442590,2:73651017:T>G,NM_015120.4:c.765-541T>G,\N,\N,4/22,Unknown significance,\N,intron_variant,2.44,0.0008,1KG_AFR_AF,ALMS1
442591,2:73651024:G>A,NM_015120.4:c.765-534G>A,\N,\N,4/22,Benign,\N,intron_variant,2.405,0.0567,1KG_AFR_AF,ALMS1
442592,2:73651027:T>G,NM_015120.4:c.765-531T>G,\N,\N,4/22,Unknown significance,\N,intron_variant,2.679,0.0008,1KG_AFR_AF,ALMS1
442593,2:73651063:G>A,NM_015120.4:c.765-495G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,6.951,0.001,1KG_EUR_AF,ALMS1
442594,2:73651069:C>T,NM_015120.4:c.765-489C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,5.65,0.0008,1KG_AFR_AF,ALMS1
442595,2:73651112:C>T,NM_015120.4:c.765-446C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,2.76,0.001,1KG_EUR_AF,ALMS1
442596,2:73651163:C>G,NM_015120.4:c.765-395C>G,\N,\N,4/22,Unknown significance,\N,intron_variant,2.101,0.0014,1KG_AMR_AF,ALMS1
442597,2:73651171:G>T,NM_015120.4:c.765-387G>T,\N,\N,4/22,Unknown significance,\N,intron_variant,1.435,\N,\N,ALMS1
442598,2:73651196:G>A,NM_015120.4:c.765-362G>A,\N,\N,4/22,Benign,\N,intron_variant,2.186,0.0058,1KG_AMR_AF,ALMS1
442599,2:73651213:G>A,NM_015120.4:c.765-345G>A,\N,\N,4/22,Unknown significance,\N,intron_variant,4.712,\N,\N,ALMS1
442600,2:73651222:G>C,NM_015120.4:c.765-336G>C,\N,\N,4/22,Unknown significance,\N,intron_variant,0.339,\N,\N,ALMS1
442601,2:73651240:A>G,NM_015120.4:c.765-318A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,2.254,0.001,1KG_SAS_AF,ALMS1
442602,2:73651254:C>T,NM_015120.4:c.765-304C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,2.103,0.002,1KG_SAS_AF,ALMS1
442603,2:73651255:G>GC,NM_015120.4:c.765-302dup,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442604,2:73651311:A>G,NM_015120.4:c.765-247A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,12.95,\N,\N,ALMS1
442605,2:73651329:T>C,NM_015120.4:c.765-229T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,13.78,\N,\N,ALMS1
442606,2:73651349:A>T,NM_015120.4:c.765-209A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,10.2,0.003,1KG_AFR_AF,ALMS1
442607,2:73651389:A>G,NM_015120.4:c.765-169A>G,\N,\N,4/22,Benign,\N,intron_variant,3.345,0.9438,1KG_AMR_AF,ALMS1
442608,2:73651444:A>G,NM_015120.4:c.765-114A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,3.148,0.001,1KG_EAS_AF,ALMS1
442609,2:73651508:A>T,NM_015120.4:c.765-50A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,13.67,\N,\N,ALMS1
442610,2:73651513:T>C,NM_015120.4:c.765-45T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,14.32,0.000505051,EXAC_AFR_AF,ALMS1
442611,2:73651520:T>C,NM_015120.4:c.765-38T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,14.49,\N,\N,ALMS1
442612,2:73651521:G>GTTAT,NM_015120.4:c.765-22_765-19dup,\N,\N,4/22,Unknown significance,\N,intron_variant,\N,0.000780031,EXAC_AMR_AF,ALMS1
442613,2:73651521:GTTAT>G,NM_015120.4:c.765-22_765-19del,\N,\N,4/22,Benign,\N,intron_variant,15.81,0.0115607,EXAC_EAS_AF,ALMS1
442614,2:73651532:A>C,NM_015120.4:c.765-26A>C,\N,\N,4/22,Unknown significance,\N,intron_variant,13.64,0.0000769823,EXAC_NFE_AF,ALMS1
442615,2:73651532:A>G,NM_015120.4:c.765-26A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,14.47,0.00094697,EXAC_EAS_AF,ALMS1
442616,2:73651536:A>T,NM_015120.4:c.765-22A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,10.52,0.000342936,EXAC_AMR_AF,ALMS1
442617,2:73651538:T>C,NM_015120.4:c.765-20T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,10.03,\N,\N,ALMS1
442618,2:73651542:A>G,NM_015120.4:c.765-16A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,10.35,0.0000799297,EXAC_NFE_AF,ALMS1
442619,2:73651543:A>T,NM_015120.4:c.765-15A>T,\N,\N,4/22,Unknown significance,\N,intron_variant,10.3,\N,\N,ALMS1
442620,2:73651544:C>T,NM_015120.4:c.765-14C>T,\N,\N,4/22,Unknown significance,\N,intron_variant,10.36,\N,\N,ALMS1
442621,2:73651546:A>G,NM_015120.4:c.765-12A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,8.391,0.001,1KG_EUR_AF,ALMS1
442622,2:73651547:T>C,NM_015120.4:c.765-11T>C,\N,\N,4/22,Unknown significance,\N,intron_variant,11.53,0.000190186,EXAC_EAS_AF,ALMS1
442623,2:73651548:A>G,NM_015120.4:c.765-10A>G,\N,\N,4/22,Unknown significance,\N,intron_variant,9.849,0.0014,1KG_AMR_AF,ALMS1
442624,2:73651552:T>C,NM_015120.4:c.765-6T>C,\N,\N,4/22,Unknown significance,\N,splice_region_variant&intron_variant,11.74,0.000103627,EXAC_AMR_AF,ALMS1
442625,2:73651565:C>T,NM_015120.4:c.772C>T,NP_055935.4:p.Pro259Ser,5/23,\N,Unknown significance,\N,missense_variant,27,0.0000160725,EXAC_NFE_AF,ALMS1
442626,2:73651568:G>C,NM_015120.4:c.775G>C,NP_055935.4:p.Asp260His,5/23,\N,Unknown significance,\N,missense_variant,26.6,0.000451671,EXAC_AMR_AF,ALMS1
442627,2:73651569:A>G,NM_015120.4:c.776A>G,NP_055935.4:p.Asp260Gly,5/23,\N,Likely benign,\N,missense_variant,14.15,\N,\N,ALMS1
442628,2:73651570:T>G,NM_015120.4:c.777T>G,NP_055935.4:p.Asp260Glu,5/23,\N,Unknown significance,\N,missense_variant,23.2,0.0014,1KG_AMR_AF,ALMS1
442629,2:73651574:T>C,NM_015120.4:c.781T>C,NP_055935.4:p.Ser262Pro,5/23,\N,Unknown significance,\N,missense_variant,25.2,0.0000642426,EXAC_SAS_AF,ALMS1
442630,2:73651580:G>A,NM_015120.4:c.787G>A,NP_055935.4:p.Asp264Asn,5/23,\N,Unknown significance,\N,missense_variant,26.4,0.0000153365,EXAC_NFE_AF,ALMS1
442631,2:73651584:C>G,NM_015120.4:c.791C>G,NP_055935.4:p.Thr265Ser,5/23,\N,Likely benign,\N,missense_variant,6.662,0.0000152639,EXAC_NFE_AF,ALMS1
442632,2:73651585:T>C,NM_015120.4:c.792T>C,NP_055935.4:p.Thr265=,5/23,\N,Unknown significance,\N,synonymous_variant,0.361,0.0000152476,EXAC_NFE_AF,ALMS1
442633,2:73651586:G>C,NM_015120.4:c.793G>C,NP_055935.4:p.Glu266Gln,5/23,\N,Unknown significance,\N,missense_variant,24.6,0.000117813,EXAC_EAS_AF,ALMS1
442634,2:73651588:A>G,NM_015120.4:c.795A>G,NP_055935.4:p.Glu266=,5/23,\N,Unknown significance,\N,synonymous_variant,2.027,\N,\N,ALMS1
442635,2:73651593:C>A,NM_015120.4:c.800C>A,NP_055935.4:p.Ser268Tyr,5/23,\N,Likely benign,\N,missense_variant,19.74,0.0000151704,EXAC_NFE_AF,ALMS1
442636,2:73651595:TCTC>T,NM_015120.4:c.803_805del,NP_055935.4:p.Ser269_Arg270delinsTer,5/23,\N,Unknown significance,\N,stop_gained&inframe_deletion,35,0.0000151556,EXAC_NFE_AF,ALMS1
442637,2:73651599:G>A,NM_015120.4:c.806G>A,NP_055935.4:p.Arg270Gln,5/23,\N,Unknown significance,\N,missense_variant,20.3,0.0000454023,EXAC_NFE_AF,ALMS1
442638,2:73651602:C>G,NM_015120.4:c.809C>G,NP_055935.4:p.Pro271Arg,5/23,\N,Unknown significance,\N,missense_variant,23.6,0.0000151153,EXAC_NFE_AF,ALMS1
442639,2:73651605:C>T,NM_015120.4:c.812C>T,NP_055935.4:p.Ser272Leu,5/23,\N,Likely benign,\N,missense_variant,29.5,0.000760341,EXAC_FIN_AF,ALMS1
442640,2:73651606:G>A,NM_015120.4:c.813G>A,NP_055935.4:p.Ser272=,5/23,\N,Unknown significance,\N,synonymous_variant,9.813,0.000102354,EXAC_AFR_AF,ALMS1
442641,2:73651613:A>C,NM_015120.4:c.820A>C,NP_055935.4:p.Ser275Arg,5/23,\N,Likely benign,\N,missense_variant,24.9,0.000102333,EXAC_AFR_AF,ALMS1
442642,2:73651614:G>A,NM_015120.4:c.821G>A,NP_055935.4:p.Ser275Asn,5/23,\N,Unknown significance,\N,missense_variant,24.5,0.0000150925,EXAC_NFE_AF,ALMS1
442643,2:73651615:T>C,NM_015120.4:c.822T>C,NP_055935.4:p.Ser275=,5/23,\N,Unknown significance,\N,synonymous_variant,3.409,0.000920999,EXAC_AFR_AF,ALMS1
442644,2:73651621:T>C,NM_015120.4:c.828T>C,NP_055935.4:p.Ala277=,5/23,\N,Unknown significance,\N,synonymous_variant,3.171,0.0000301759,EXAC_NFE_AF,ALMS1
442645,2:73651630:G>A,NM_015120.4:c.837G>A,NP_055935.4:p.Gln280=,5/23,\N,Unknown significance,\N,synonymous_variant,5.336,0.0000879662,EXAC_AMR_AF,ALMS1
442646,2:73651639:A>C,NM_015120.4:c.846A>C,NP_055935.4:p.Ala283=,5/23,\N,Unknown significance,\N,synonymous_variant,0.874,0.0000753989,EXAC_NFE_AF,ALMS1
442647,2:73651640:G>C,NM_015120.4:c.847G>C,NP_055935.4:p.Glu284Gln,5/23,\N,Unknown significance,\N,missense_variant,24.9,0.0000150807,EXAC_NFE_AF,ALMS1
442648,2:73651647:C>T,NM_015120.4:c.854C>T,NP_055935.4:p.Ala286Val,5/23,\N,Unknown significance,\N,missense_variant,26.5,0.0000150775,EXAC_NFE_AF,ALMS1
442649,2:73651651:A>G,NM_015120.4:c.858A>G,NP_055935.4:p.Ser287=,5/23,\N,Unknown significance,\N,synonymous_variant,3.43,\N,\N,ALMS1
442650,2:73651654:C>T,NM_015120.4:c.861C>T,NP_055935.4:p.Asp288=,5/23,\N,Unknown significance,\N,synonymous_variant,8.313,0.000243605,EVS_EA_AF,ALMS1
442651,2:73651665:G>C,NM_015120.4:c.872G>C,NP_055935.4:p.Ser292Thr,5/23,\N,Unknown significance,\N,missense_variant,23.4,0.0000301377,EXAC_NFE_AF,ALMS1
442652,2:73651665:G>T,NM_015120.4:c.872G>T,NP_055935.4:p.Ser292Ile,5/23,\N,Unknown significance,\N,missense_variant,24.3,0.001,1KG_SAS_AF,ALMS1
442653,2:73651666:T>G,NM_015120.4:c.873T>G,NP_055935.4:p.Ser292Arg,5/23,\N,Unknown significance,\N,missense_variant,23.7,0.000015068,EXAC_NFE_AF,ALMS1
442654,2:73651667:C>T,NM_015120.4:c.874C>T,NP_055935.4:p.Arg293Cys,5/23,\N,Likely benign,\N,missense_variant,5.807,0.0000150684,EXAC_NFE_AF,ALMS1
442655,2:73651678:A>G,NM_015120.4:c.885A>G,NP_055935.4:p.Val296=,5/23,\N,Unknown significance,\N,synonymous_variant,4.104,0.000116986,EXAC_EAS_AF,ALMS1
442656,2:73651687:C>T,NM_015120.4:c.894C>T,NP_055935.4:p.His299=,5/23,\N,Unknown significance,\N,synonymous_variant,3.77,0.0008,1KG_AFR_AF,ALMS1
442657,2:73651689:C>T,NM_015120.4:c.896C>T,NP_055935.4:p.Pro300Leu,5/23,\N,Likely benign,\N,missense_variant,14.12,0.000243072,EVS_EA_AF,ALMS1
442658,2:73651694:A>C,NM_015120.4:c.901A>C,NP_055935.4:p.Ile302Leu,5/23,\N,Likely benign,\N,missense_variant,0.159,\N,\N,ALMS1
442659,2:73651695:T>C,NM_015120.4:c.902T>C,NP_055935.4:p.Ile302Thr,5/23,\N,Likely benign,\N,missense_variant,0.002,0.000121566,EVS_EA_AF,ALMS1
442660,2:73651696:A>T,NM_015120.4:c.903A>T,NP_055935.4:p.Ile302=,5/23,\N,Unknown significance,\N,synonymous_variant,0.002,\N,\N,ALMS1
442661,2:73651712:G>A,NM_015120.4:c.919G>A,NP_055935.4:p.Gly308Arg,5/23,\N,Unknown significance,\N,missense_variant,22.2,0.000116986,EXAC_EAS_AF,ALMS1
442662,2:73651723:C>T,NM_015120.4:c.930C>T,NP_055935.4:p.Cys311=,5/23,\N,Unknown significance,\N,synonymous_variant,3.034,0.0000608051,EXAC_SAS_AF,ALMS1
442663,2:73651725:CT>C,NM_015120.4:c.938del,NP_055935.4:p.Leu314TyrfsTer18,5/23,\N,Unknown significance,\N,frameshift_variant,20.6,0.000117123,EXAC_EAS_AF,ALMS1
442664,2:73651726:T>G,NM_015120.4:c.933T>G,NP_055935.4:p.Pro312=,5/23,\N,Unknown significance,\N,synonymous_variant,0.087,0.000102333,EXAC_AFR_AF,ALMS1
442665,2:73651734:C>T,NM_015120.4:c.941C>T,NP_055935.4:p.Pro315Leu,5/23,\N,Likely benign,\N,missense_variant,23.5,0.0000150453,EXAC_NFE_AF,ALMS1
442666,2:73651738:T>C,NM_015120.4:c.945T>C,NP_055935.4:p.Ser316=,5/23,\N,Unknown significance,\N,synonymous_variant,0.951,0.0029,1KG_AMR_AF,ALMS1
442667,2:73651741:A>G,NM_015120.4:c.948A>G,NP_055935.4:p.Glu317=,5/23,\N,Unknown significance,\N,synonymous_variant,5.8,0.0000150412,EXAC_NFE_AF,ALMS1
442668,2:73651745:G>T,NM_015120.4:c.952G>T,NP_055935.4:p.Gly319Trp,5/23,\N,Unknown significance,\N,missense_variant,26.5,0.0001213,EVS_EA_AF,ALMS1
442669,2:73651746:G>A,NM_015120.4:c.953G>A,NP_055935.4:p.Gly319Glu,5/23,\N,Likely benign,\N,missense_variant,9.383,0.0001213,EVS_EA_AF,ALMS1
442670,2:73651748:A>G,NM_015120.4:c.955A>G,NP_055935.4:p.Asn320Asp,5/23,\N,Likely benign,\N,missense_variant,10.37,0.0014,1KG_AMR_AF,ALMS1
442671,2:73651750:T>C,NM_015120.4:c.957T>C,NP_055935.4:p.Asn320=,5/23,\N,Unknown significance,\N,synonymous_variant,0.658,\N,\N,ALMS1
442672,2:73651754:G>A,NM_015120.4:c.961G>A,NP_055935.4:p.Glu322Lys,5/23,\N,Unknown significance,\N,missense_variant,23.1,0.000102187,EXAC_AFR_AF,ALMS1
442673,2:73651757:G>T,NM_015120.4:c.964G>T,NP_055935.4:p.Glu323Ter,5/23,\N,Unknown significance,\N,stop_gained,35,0.000060746,EXAC_SAS_AF,ALMS1
442674,2:73651760:A>G,NM_015120.4:c.967A>G,NP_055935.4:p.Thr324Ala,5/23,\N,Likely benign,\N,missense_variant,4.024,0.0000607312,EXAC_SAS_AF,ALMS1
442675,2:73651767:C>T,NM_015120.4:c.974C>T,NP_055935.4:p.Ser326Leu,5/23,\N,Likely benign,\N,missense_variant,0.202,0.0000902337,EXAC_NFE_AF,ALMS1
442676,2:73651768:G>A,NM_015120.4:c.975G>A,NP_055935.4:p.Ser326=,5/23,\N,Unknown significance,\N,synonymous_variant,0.709,0.00236765,EXAC_SAS_AF,ALMS1
442677,2:73651768:G>T,NM_015120.4:c.975G>T,NP_055935.4:p.Ser326=,5/23,\N,Unknown significance,\N,synonymous_variant,0.187,0.000234028,EXAC_EAS_AF,ALMS1
442678,2:73651772:G>A,NM_015120.4:c.979G>A,NP_055935.4:p.Val328Ile,5/23,\N,Likely benign,\N,missense_variant,1.101,0.0000877039,EXAC_AMR_AF,ALMS1
442679,2:73651776:A>T,NM_015120.4:c.983A>T,NP_055935.4:p.Asp329Val,5/23,\N,Unknown significance,\N,missense_variant,13.82,0.0000606943,EXAC_SAS_AF,ALMS1
442680,2:73651781:C>T,NM_015120.4:c.988C>T,NP_055935.4:p.Leu331=,5/23,\N,Unknown significance,\N,synonymous_variant,6.577,\N,\N,ALMS1
442681,2:73651789:T>C,NM_015120.4:c.996T>C,NP_055935.4:p.Ile333=,5/23,\N,Unknown significance,\N,synonymous_variant,0.029,\N,\N,ALMS1
442682,2:73651796:G>A,NM_015120.4:c.1003G>A,NP_055935.4:p.Asp336Asn,5/23,\N,Unknown significance,\N,missense_variant,14.99,\N,\N,ALMS1
442683,2:73651799:T>C,NM_015120.4:c.1006T>C,NP_055935.4:p.Cys337Arg,5/23,\N,Unknown significance,Alstrom syndrome,missense_variant,0.819,0.000116877,EXAC_EAS_AF,ALMS1
442684,2:73651806:G>A,NM_015120.4:c.1013G>A,NP_055935.4:p.Arg339His,5/23,\N,Likely benign,\N,missense_variant,10.86,0.000242601,EXAC_SAS_AF,ALMS1
442685,2:73651809:A>G,NM_015120.4:c.1016A>G,NP_055935.4:p.Tyr340Cys,5/23,\N,Likely benign,\N,missense_variant,20.3,0.0000150137,EXAC_NFE_AF,ALMS1
442686,2:73651813:T>A,NM_015120.4:c.1020T>A,NP_055935.4:p.Asp341Glu,5/23,\N,Unknown significance,\N,missense_variant,11.17,\N,\N,ALMS1
442687,2:73651815:A>G,NM_015120.4:c.1022A>G,NP_055935.4:p.Asp342Gly,5/23,\N,Likely benign,\N,missense_variant,0.025,0.000151699,EXAC_FIN_AF,ALMS1
442688,2:73651819:TTG>T,NM_015120.4:c.1028_1029del,NP_055935.4:p.Cys344PhefsTer15,5/23,\N,Unknown significance,\N,frameshift_variant,23.8,0.0000150083,EXAC_NFE_AF,ALMS1
442689,2:73651825:A>G,NM_015120.4:c.1032A>G,NP_055935.4:p.Ser345=,5/23,\N,Unknown significance,\N,synonymous_variant,6.599,0.001,1KG_SAS_AF,ALMS1
442690,2:73651827:A>G,NM_015120.4:c.1034A>G,NP_055935.4:p.Tyr346Cys,5/23,\N,Likely benign,\N,missense_variant,12.16,0.000030012,EXAC_NFE_AF,ALMS1
442691,2:73651828:T>C,NM_015120.4:c.1035T>C,NP_055935.4:p.Tyr346=,5/23,\N,Unknown significance,\N,synonymous_variant,0.092,0.0000606134,EXAC_SAS_AF,ALMS1
442692,2:73651829:A>G,NM_015120.4:c.1036A>G,NP_055935.4:p.Met347Val,5/23,\N,Unknown significance,\N,missense_variant,15.4,0.0000150065,EXAC_NFE_AF,ALMS1
442693,2:73651836:G>A,NM_015120.4:c.1043G>A,NP_055935.4:p.Trp349Ter,5/23,\N,Unknown significance,\N,stop_gained,35,0.0000150069,EXAC_NFE_AF,ALMS1
442694,2:73651840:G>A,NM_015120.4:c.1047G>A,NP_055935.4:p.Lys350=,5/23,\N,Unknown significance,\N,synonymous_variant,11.26,0.001,1KG_SAS_AF,ALMS1
442695,2:73651845:G>A,NM_015120.4:c.1052G>A,NP_055935.4:p.Arg352Gln,5/23,\N,Likely benign,\N,missense_variant,6.702,0.0000150069,EXAC_NFE_AF,ALMS1
442696,2:73651854:C>T,NM_015120.4:c.1061C>T,NP_055935.4:p.Thr355Ile,5/23,\N,Likely benign,\N,missense_variant,0.072,0.000306247,EXAC_AFR_AF,ALMS1
442697,2:73651864:T>C,NM_015120.4:c.1071T>C,NP_055935.4:p.Pro358=,5/23,\N,Unknown significance,\N,synonymous_variant,0.092,0.0000150051,EXAC_NFE_AF,ALMS1
442698,2:73651864:TG>T,NM_015120.4:c.1072del,NP_055935.4:p.Glu359LysfsTer4,5/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
442699,2:73651869:A>G,NM_015120.4:c.1076A>G,NP_055935.4:p.Asn360Ser,5/23,\N,Likely benign,\N,missense_variant,0.001,0.00008726,EXAC_AMR_AF,ALMS1
442700,2:73651875:T>C,NM_015120.4:c.1082T>C,NP_055935.4:p.Leu362Ser,5/23,\N,Unknown significance,\N,missense_variant,14.82,0.000060746,EXAC_SAS_AF,ALMS1
442701,2:73651878:C>T,NM_015120.4:c.1085C>T,NP_055935.4:p.Ala363Val,5/23,\N,Likely benign,\N,missense_variant,15.63,0.0008,1KG_AFR_AF,ALMS1
442702,2:73651894:T>G,NM_015120.4:c.1101T>G,NP_055935.4:p.Val368=,5/23,\N,Unknown significance,\N,synonymous_variant,0.698,\N,\N,ALMS1
442703,2:73651898:G>T,NM_015120.4:c.1105G>T,NP_055935.4:p.Val370Phe,5/23,\N,Likely benign,\N,missense_variant,0.093,0.0000150186,EXAC_NFE_AF,ALMS1
442704,2:73651899:T>C,NM_015120.4:c.1106T>C,NP_055935.4:p.Val370Ala,5/23,\N,Likely benign,\N,missense_variant,3.513,0.000122564,EXAC_SAS_AF,ALMS1
442705,2:73651901:G>A,NM_015120.4:c.1108G>A,NP_055935.4:p.Ala371Thr,5/23,\N,Likely benign,\N,missense_variant,0.004,0.000266525,EVS_AA_AF,ALMS1
442706,2:73651902:C>T,NM_015120.4:c.1109C>T,NP_055935.4:p.Ala371Val,5/23,\N,Likely benign,\N,missense_variant,3.535,0.0000614931,EXAC_SAS_AF,ALMS1
442707,2:73651905:C>A,NM_015120.4:c.1112C>A,NP_055935.4:p.Thr372Asn,5/23,\N,Likely benign,\N,missense_variant,0.154,0.0000150281,EXAC_NFE_AF,ALMS1
442708,2:73651905:C>G,NM_015120.4:c.1112C>G,NP_055935.4:p.Thr372Ser,5/23,\N,Likely benign,\N,missense_variant,0.001,0.0000616447,EXAC_SAS_AF,ALMS1
442709,2:73651919:A>T,NM_015120.4:c.1126A>T,NP_055935.4:p.Thr377Ser,5/23,\N,Likely benign,\N,missense_variant,0.003,0.000750939,EXAC_SAS_AF,ALMS1
442710,2:73651920:C>G,NM_015120.4:c.1127C>G,NP_055935.4:p.Thr377Ser,5/23,\N,Likely benign,\N,missense_variant,0.04,0.00008726,EXAC_AMR_AF,ALMS1
442711,2:73651931:A>G,NM_015120.4:c.1138A>G,NP_055935.4:p.Ile381Val,5/23,\N,Likely benign,\N,missense_variant,0.138,\N,\N,ALMS1
442712,2:73651932:T>C,NM_015120.4:c.1139T>C,NP_055935.4:p.Ile381Thr,5/23,\N,Likely benign,\N,missense_variant,3.671,0.0014,1KG_AMR_AF,ALMS1
442713,2:73651937:A>G,NM_015120.4:c.1144A>G,NP_055935.4:p.Thr383Ala,5/23,\N,Benign,\N,missense_variant,0.001,0.0719,1KG_AFR_AF,ALMS1
442714,2:73651946:A>G,NM_015120.4:c.1153A>G,NP_055935.4:p.Ser386Gly,5/23,\N,Unknown significance,\N,missense_variant,13.39,0.0000150693,EXAC_NFE_AF,ALMS1
442715,2:73651947:G>A,NM_015120.4:c.1154G>A,NP_055935.4:p.Ser386Asn,5/23,\N,Likely benign,\N,missense_variant,1.222,0.0000452066,EXAC_NFE_AF,ALMS1
442716,2:73651954:T>C,NM_015120.4:c.1161T>C,NP_055935.4:p.His388=,5/23,\N,Unknown significance,\N,synonymous_variant,0.001,0.00239617,EVS_AA_AF,ALMS1
442717,2:73651967:C>A,NM_015120.4:c.1174C>A,NP_055935.4:p.Arg393Ser,5/23,\N,Likely benign,\N,missense_variant,2.915,0.00061287,EXAC_AFR_AF,ALMS1
442718,2:73651967:C>T,NM_015120.4:c.1174C>T,NP_055935.4:p.Arg393Cys,5/23,\N,Benign,\N,missense_variant,0.092,0.8782,1KG_AFR_AF,ALMS1
442719,2:73651968:G>A,NM_015120.4:c.1175G>A,NP_055935.4:p.Arg393His,5/23,\N,Likely benign,\N,missense_variant,10.15,0.0000151254,EXAC_NFE_AF,ALMS1
442720,2:73651968:G>T,NM_015120.4:c.1175G>T,NP_055935.4:p.Arg393Leu,5/23,\N,Likely benign,\N,missense_variant,1.052,0.0000873973,EXAC_AMR_AF,ALMS1
442721,2:73651972:A>C,NM_015120.4:c.1179A>C,NP_055935.4:p.Ser394=,5/23,\N,Unknown significance,\N,synonymous_variant,0.003,0.00010248,EXAC_AFR_AF,ALMS1
442722,2:73651972:A>G,NM_015120.4:c.1179A>G,NP_055935.4:p.Ser394=,5/23,\N,Unknown significance,\N,synonymous_variant,0.08,0.0000151295,EXAC_NFE_AF,ALMS1
442723,2:73651972:A>T,NM_015120.4:c.1179A>T,NP_055935.4:p.Ser394=,5/23,\N,Unknown significance,\N,synonymous_variant,0.002,0.000151378,EXAC_FIN_AF,ALMS1
442724,2:73651975:T>C,NM_015120.4:c.1182T>C,NP_055935.4:p.Tyr395=,5/23,\N,Benign,\N,synonymous_variant,0.002,0.0116995,EXAC_AFR_AF,ALMS1
442725,2:73651979:C>A,NM_015120.4:c.1186C>A,NP_055935.4:p.Gln397Lys,5/23,\N,Unknown significance,\N,missense_variant,0.024,\N,\N,ALMS1
442726,2:73651981:G>A,NM_015120.4:c.1188G>A,NP_055935.4:p.Gln397=,5/23,\N,Unknown significance,\N,synonymous_variant,0.021,0.000121625,EVS_EA_AF,ALMS1
442727,2:73651985:TGGACACA>T,NM_015120.4:c.1196_1202del,NP_055935.4:p.Thr400LysfsTer11,5/23,\N,Unknown significance,\N,frameshift_variant,23.8,\N,\N,ALMS1
442728,2:73651990:A>G,NM_015120.4:c.1197A>G,NP_055935.4:p.Thr400=,5/23,\N,Unknown significance,\N,synonymous_variant,0.002,0.0000151685,EXAC_NFE_AF,ALMS1
442729,2:73651992:A>G,NM_015120.4:c.1199A>G,NP_055935.4:p.Gln401Arg,5/23,\N,Unknown significance,\N,missense_variant,4.942,0.000121743,EVS_EA_AF,ALMS1
442730,2:73652005:T>C,NM_015120.4:c.1212T>C,NP_055935.4:p.Ser405=,5/23,\N,Unknown significance,\N,synonymous_variant,0.008,0.000121892,EVS_EA_AF,ALMS1
442731,2:73652013:C>G,NM_015120.4:c.1220C>G,NP_055935.4:p.Ala408Gly,5/23,\N,Likely benign,\N,missense_variant,0.004,0.0000153191,EXAC_NFE_AF,ALMS1
442732,2:73652019:CAT>C,NM_015120.4:c.1229_1230del,NP_055935.4:p.Tyr411PhefsTer10,5/23,\N,Unknown significance,\N,frameshift_variant,23.1,\N,\N,ALMS1
442733,2:73652028:C>T,NM_015120.4:c.1235C>T,NP_055935.4:p.Thr413Ile,5/23,\N,Likely benign,\N,missense_variant&splice_region_variant,14.06,0.000539957,EVS_AA_AF,ALMS1
442734,2:73652030:A>G,NM_015120.4:c.1237A>G,NP_055935.4:p.Lys414Glu,5/23,\N,Likely benign,\N,missense_variant&splice_region_variant,8.767,0.0000725268,EXAC_SAS_AF,ALMS1
442735,2:73652034:A>G,NM_015120.4:c.1237+4A>G,\N,\N,5/22,Unknown significance,\N,splice_region_variant&intron_variant,5.056,0.0000897827,EXAC_AMR_AF,ALMS1
442736,2:73652038:C>A,NM_015120.4:c.1237+8C>A,\N,\N,5/22,Unknown significance,\N,splice_region_variant&intron_variant,3.241,0.0000903016,EXAC_AMR_AF,ALMS1
442737,2:73652039:C>G,NM_015120.4:c.1237+9C>G,\N,\N,5/22,Unknown significance,\N,intron_variant,0.661,0.0015,1KG_AFR_AF,ALMS1
442738,2:73652039:C>T,NM_015120.4:c.1237+9C>T,\N,\N,5/22,Unknown significance,\N,intron_variant,0.998,0.000452817,EXAC_AMR_AF,ALMS1
442739,2:73652055:A>T,NM_015120.4:c.1237+25A>T,\N,\N,5/22,Benign,\N,intron_variant,1.063,0.0266207,EXAC_FIN_AF,ALMS1
442740,2:73652058:C>A,NM_015120.4:c.1237+28C>A,\N,\N,5/22,Unknown significance,\N,intron_variant,1.591,0.0000942329,EXAC_AMR_AF,ALMS1
442741,2:73652059:A>G,NM_015120.4:c.1237+29A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,1.723,0.0000170137,EXAC_NFE_AF,ALMS1
442742,2:73652060:T>A,NM_015120.4:c.1237+30T>A,\N,\N,5/22,Unknown significance,\N,intron_variant,3.849,0.0000170219,EXAC_NFE_AF,ALMS1
442743,2:73652061:C>G,NM_015120.4:c.1237+31C>G,\N,\N,5/22,Unknown significance,\N,intron_variant,0.162,0.00011655,EXAC_AFR_AF,ALMS1
442744,2:73652067:C>G,NM_015120.4:c.1237+37C>G,\N,\N,5/22,Unknown significance,\N,intron_variant,1.674,0.000131234,EXAC_EAS_AF,ALMS1
442745,2:73652072:G>A,NM_015120.4:c.1237+42G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,1.799,0.0000361664,EXAC_NFE_AF,ALMS1
442746,2:73652073:A>G,NM_015120.4:c.1237+43A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,1.619,0.000136986,EXAC_EAS_AF,ALMS1
442747,2:73652074:T>TA,NM_015120.4:c.1237+49dup,\N,\N,5/22,Unknown significance,\N,intron_variant,0.237,0.000018459,EXAC_NFE_AF,ALMS1
442748,2:73652075:A>G,NM_015120.4:c.1237+45A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,0.077,0.000161499,EXAC_FIN_AF,ALMS1
442749,2:73652091:A>AG,NM_015120.4:c.1237+64dup,\N,\N,5/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442750,2:73652117:T>C,NM_015120.4:c.1237+87T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,0.062,\N,\N,ALMS1
442751,2:73652193:C>A,NM_015120.4:c.1237+163C>A,\N,\N,5/22,Unknown significance,\N,intron_variant,0.162,\N,\N,ALMS1
442752,2:73652202:G>A,NM_015120.4:c.1237+172G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,0.074,0.002,1KG_SAS_AF,ALMS1
442753,2:73652233:A>G,NM_015120.4:c.1237+203A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,1.022,0.0023,1KG_AFR_AF,ALMS1
442754,2:73652250:T>C,NM_015120.4:c.1237+220T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,0.449,0.001,1KG_EUR_AF,ALMS1
442755,2:73652267:A>G,NM_015120.4:c.1237+237A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,5.519,\N,\N,ALMS1
442756,2:73652298:A>G,NM_015120.4:c.1237+268A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,0.468,0.0014,1KG_AMR_AF,ALMS1
442757,2:73652316:A>T,NM_015120.4:c.1237+286A>T,\N,\N,5/22,Benign,\N,intron_variant,0.023,0.0139,1KG_EUR_AF,ALMS1
442758,2:73652318:G>A,NM_015120.4:c.1237+288G>A,\N,\N,5/22,Benign,\N,intron_variant,0.414,0.0083,1KG_AFR_AF,ALMS1
442759,2:73652370:T>C,NM_015120.4:c.1237+340T>C,\N,\N,5/22,Benign,\N,intron_variant,11.64,0.0298,1KG_EAS_AF,ALMS1
442760,2:73652376:G>T,NM_015120.4:c.1237+346G>T,\N,\N,5/22,Unknown significance,\N,intron_variant,10.55,\N,\N,ALMS1
442761,2:73652452:A>G,NM_015120.4:c.1237+422A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,2.412,\N,\N,ALMS1
442762,2:73652508:T>C,NM_015120.4:c.1237+478T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,1.269,\N,\N,ALMS1
442763,2:73652510:G>C,NM_015120.4:c.1237+480G>C,\N,\N,5/22,Unknown significance,\N,intron_variant,0.466,0.0014,1KG_AMR_AF,ALMS1
442764,2:73652533:T>G,NM_015120.4:c.1237+503T>G,\N,\N,5/22,Benign,\N,intron_variant,11.44,0.0348,1KG_AFR_AF,ALMS1
442765,2:73652544:A>G,NM_015120.4:c.1237+514A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,5.736,\N,\N,ALMS1
442766,2:73652545:T>C,NM_015120.4:c.1237+515T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,5.769,\N,\N,ALMS1
442767,2:73652597:G>A,NM_015120.4:c.1237+567G>A,\N,\N,5/22,Benign,\N,intron_variant,0.15,0.1354,1KG_AMR_AF,ALMS1
442768,2:73652600:A>G,NM_015120.4:c.1237+570A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,0.162,\N,\N,ALMS1
442769,2:73652628:A>G,NM_015120.4:c.1237+598A>G,\N,\N,5/22,Benign,\N,intron_variant,10.24,0.6021,1KG_AFR_AF,ALMS1
442770,2:73652649:G>T,NM_015120.4:c.1237+619G>T,\N,\N,5/22,Unknown significance,\N,intron_variant,11.26,\N,\N,ALMS1
442771,2:73652676:G>A,NM_015120.4:c.1237+646G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,12.86,0.001,1KG_SAS_AF,ALMS1
442772,2:73652681:A>G,NM_015120.4:c.1237+651A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,10.17,\N,\N,ALMS1
442773,2:73652694:C>T,NM_015120.4:c.1237+664C>T,\N,\N,5/22,Benign,\N,intron_variant,16.79,0.0454,1KG_AFR_AF,ALMS1
442774,2:73652705:A>G,NM_015120.4:c.1237+675A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,11.1,\N,\N,ALMS1
442775,2:73652715:A>G,NM_015120.4:c.1237+685A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,15.75,\N,\N,ALMS1
442776,2:73652756:A>G,NM_015120.4:c.1237+726A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,14.12,0.001,1KG_SAS_AF,ALMS1
442777,2:73652763:A>G,NM_015120.4:c.1237+733A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,14.3,0.0015,1KG_AFR_AF,ALMS1
442778,2:73652771:C>G,NM_015120.4:c.1237+741C>G,\N,\N,5/22,Unknown significance,\N,intron_variant,14.57,\N,\N,ALMS1
442779,2:73652802:A>G,NM_015120.4:c.1237+772A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,16.77,\N,\N,ALMS1
442780,2:73652807:C>T,NM_015120.4:c.1238-774C>T,\N,\N,5/22,Unknown significance,\N,intron_variant,15.61,\N,\N,ALMS1
442781,2:73652830:A>G,NM_015120.4:c.1238-751A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,1.6,\N,\N,ALMS1
442782,2:73652860:C>A,NM_015120.4:c.1238-721C>A,\N,\N,5/22,Unknown significance,\N,intron_variant,2.902,\N,\N,ALMS1
442783,2:73652880:A>G,NM_015120.4:c.1238-701A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,0.688,0.001,1KG_EAS_AF,ALMS1
442784,2:73652892:T>C,NM_015120.4:c.1238-689T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,0.116,0.001,1KG_EAS_AF,ALMS1
442785,2:73652901:A>G,NM_015120.4:c.1238-680A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,9.042,\N,\N,ALMS1
442786,2:73652972:A>G,NM_015120.4:c.1238-609A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,6.696,0.0014,1KG_AMR_AF,ALMS1
442787,2:73653000:C>T,NM_015120.4:c.1238-581C>T,\N,\N,5/22,Unknown significance,\N,intron_variant,3.08,0.001,1KG_EAS_AF,ALMS1
442788,2:73653002:T>C,NM_015120.4:c.1238-579T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,1.286,0.002,1KG_EUR_AF,ALMS1
442789,2:73653024:A>T,NM_015120.4:c.1238-557A>T,\N,\N,5/22,Unknown significance,\N,intron_variant,0.054,\N,\N,ALMS1
442790,2:73653026:T>C,NM_015120.4:c.1238-555T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,4.824,0.0008,1KG_AFR_AF,ALMS1
442791,2:73653032:A>G,NM_015120.4:c.1238-549A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,7.53,0.0015,1KG_AFR_AF,ALMS1
442792,2:73653053:T>G,NM_015120.4:c.1238-528T>G,\N,\N,5/22,Unknown significance,\N,intron_variant,16.68,\N,\N,ALMS1
442793,2:73653081:T>C,NM_015120.4:c.1238-500T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,15.34,\N,\N,ALMS1
442794,2:73653095:T>C,NM_015120.4:c.1238-486T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,13.73,0.0014,1KG_AMR_AF,ALMS1
442795,2:73653110:AAC>A,NM_015120.4:c.1238-467_1238-466del,\N,\N,5/22,Unknown significance,\N,intron_variant,14.5,0.0023,1KG_AFR_AF,ALMS1
442796,2:73653131:G>A,NM_015120.4:c.1238-450G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,12.5,\N,\N,ALMS1
442797,2:73653138:A>G,NM_015120.4:c.1238-443A>G,\N,\N,5/22,Benign,\N,intron_variant,11.53,0.6021,1KG_AFR_AF,ALMS1
442798,2:73653143:C>G,NM_015120.4:c.1238-438C>G,\N,\N,5/22,Unknown significance,\N,intron_variant,10.5,0.0008,1KG_AFR_AF,ALMS1
442799,2:73653154:T>A,NM_015120.4:c.1238-427T>A,\N,\N,5/22,Unknown significance,\N,intron_variant,13.29,0.0015,1KG_AFR_AF,ALMS1
442800,2:73653173:A>G,NM_015120.4:c.1238-408A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,14.16,0.001,1KG_EUR_AF,ALMS1
442801,2:73653210:G>A,NM_015120.4:c.1238-371G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,16.2,0.0008,1KG_AFR_AF,ALMS1
442802,2:73653251:A>G,NM_015120.4:c.1238-330A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,14.38,0.0015,1KG_AFR_AF,ALMS1
442803,2:73653267:C>T,NM_015120.4:c.1238-314C>T,\N,\N,5/22,Unknown significance,\N,intron_variant,15.65,0.001,1KG_SAS_AF,ALMS1
442804,2:73653312:A>G,NM_015120.4:c.1238-269A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,0.203,0.0008,1KG_AFR_AF,ALMS1
442805,2:73653316:T>G,NM_015120.4:c.1238-265T>G,\N,\N,5/22,Unknown significance,\N,intron_variant,1.24,\N,\N,ALMS1
442806,2:73653319:A>G,NM_015120.4:c.1238-262A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,5.675,\N,\N,ALMS1
442807,2:73653332:T>C,NM_015120.4:c.1238-249T>C,\N,\N,5/22,Benign,\N,intron_variant,0.818,0.8585,1KG_AFR_AF,ALMS1
442808,2:73653338:C>T,NM_015120.4:c.1238-243C>T,\N,\N,5/22,Unknown significance,\N,intron_variant,0.285,\N,\N,ALMS1
442809,2:73653349:C>A,NM_015120.4:c.1238-232C>A,\N,\N,5/22,Unknown significance,\N,intron_variant,0.387,\N,\N,ALMS1
442810,2:73653358:G>A,NM_015120.4:c.1238-223G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,0.217,0.001,1KG_EAS_AF,ALMS1
442811,2:73653399:G>A,NM_015120.4:c.1238-182G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,16.62,\N,\N,ALMS1
442812,2:73653412:C>G,NM_015120.4:c.1238-169C>G,\N,\N,5/22,Unknown significance,\N,intron_variant,13.47,\N,\N,ALMS1
442813,2:73653430:G>A,NM_015120.4:c.1238-151G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,0.19,0.002,1KG_EUR_AF,ALMS1
442814,2:73653457:A>G,NM_015120.4:c.1238-124A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,11.27,\N,\N,ALMS1
442815,2:73653463:G>A,NM_015120.4:c.1238-118G>A,\N,\N,5/22,Benign,\N,intron_variant,3.028,0.0719,1KG_AFR_AF,ALMS1
442816,2:73653479:T>C,NM_015120.4:c.1238-102T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,12.58,0.0023,1KG_AFR_AF,ALMS1
442817,2:73653483:G>A,NM_015120.4:c.1238-98G>A,\N,\N,5/22,Unknown significance,\N,intron_variant,13.33,\N,\N,ALMS1
442818,2:73653492:T>TA,NM_015120.4:c.1238-88dup,\N,\N,5/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442819,2:73653513:T>G,NM_015120.4:c.1238-68T>G,\N,\N,5/22,Benign,\N,intron_variant,3.058,0.0719,1KG_AFR_AF,ALMS1
442820,2:73653531:G>T,NM_015120.4:c.1238-50G>T,\N,\N,5/22,Unknown significance,\N,intron_variant,2.135,0.000116009,EXAC_EAS_AF,ALMS1
442821,2:73653544:A>C,NM_015120.4:c.1238-37A>C,\N,\N,5/22,Unknown significance,\N,intron_variant,11.71,\N,\N,ALMS1
442822,2:73653547:C>T,NM_015120.4:c.1238-34C>T,\N,\N,5/22,Unknown significance,\N,intron_variant,12.41,0.0000149862,EXAC_NFE_AF,ALMS1
442823,2:73653548:A>G,NM_015120.4:c.1238-33A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,12.55,0.000120482,EVS_EA_AF,ALMS1
442824,2:73653551:C>A,NM_015120.4:c.1238-30C>A,\N,\N,5/22,Unknown significance,\N,intron_variant,13.11,0.000060562,EXAC_SAS_AF,ALMS1
442825,2:73653557:T>C,NM_015120.4:c.1238-24T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,16.76,0.000060562,EXAC_SAS_AF,ALMS1
442826,2:73653561:A>G,NM_015120.4:c.1238-20A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,18.69,0.000347947,EXAC_EAS_AF,ALMS1
442827,2:73653564:T>C,NM_015120.4:c.1238-17T>C,\N,\N,5/22,Unknown significance,\N,intron_variant,18.29,0.0000149858,EXAC_NFE_AF,ALMS1
442828,2:73653564:TG>T,NM_015120.4:c.1238-16del,\N,\N,5/22,Unknown significance,\N,intron_variant,19.53,0.0000299715,EXAC_NFE_AF,ALMS1
442829,2:73653572:A>G,NM_015120.4:c.1238-9A>G,\N,\N,5/22,Unknown significance,\N,intron_variant,14.45,0.000257732,EVS_AA_AF,ALMS1
442830,2:73653581:A>T,NM_015120.4:c.1238A>T,NP_055935.4:p.Lys414Met,6/23,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.2,0.000060562,EXAC_SAS_AF,ALMS1
442831,2:73653590:A>G,NM_015120.4:c.1247A>G,NP_055935.4:p.Gln417Arg,6/23,\N,Unknown significance,\N,missense_variant,24.7,0.0000449506,EXAC_NFE_AF,ALMS1
442832,2:73653595:A>G,NM_015120.4:c.1252A>G,NP_055935.4:p.Lys419Glu,6/23,\N,Unknown significance,\N,missense_variant,24.8,0.00111111,EXAC_OTH_AF,ALMS1
442833,2:73653610:G>A,NM_015120.4:c.1267G>A,NP_055935.4:p.Val424Ile,6/23,\N,Benign,\N,missense_variant,0.004,0.0072,1KG_SAS_AF,ALMS1
442834,2:73653613:A>G,NM_015120.4:c.1270A>G,NP_055935.4:p.Ile425Val,6/23,\N,Likely benign,\N,missense_variant,0.004,0.000029967,EXAC_NFE_AF,ALMS1
442835,2:73653615:T>C,NM_015120.4:c.1272T>C,NP_055935.4:p.Ile425=,6/23,\N,Unknown significance,\N,synonymous_variant,0.569,0.001,1KG_EAS_AF,ALMS1
442836,2:73653618:T>A,NM_015120.4:c.1275T>A,NP_055935.4:p.Thr426=,6/23,\N,Unknown significance,\N,synonymous_variant,5.403,\N,\N,ALMS1
442837,2:73653626:G>A,NM_015120.4:c.1283G>A,NP_055935.4:p.Gly429Asp,6/23,\N,Likely benign,\N,missense_variant,11.68,0.000014984,EXAC_NFE_AF,ALMS1
442838,2:73653640:G>C,NM_015120.4:c.1297G>C,NP_055935.4:p.Ala434Pro,6/23,\N,Likely benign,\N,missense_variant,6.018,0.000060562,EXAC_SAS_AF,ALMS1
442839,2:73653647:T>G,NM_015120.4:c.1304T>G,NP_055935.4:p.Val436Gly,6/23,\N,Likely benign,\N,missense_variant,11.56,0.0000149835,EXAC_NFE_AF,ALMS1
442840,2:73653654:T>G,NM_015120.4:c.1311T>G,NP_055935.4:p.Ser438Arg,6/23,\N,Likely benign,\N,missense_variant,0.367,0.0000149835,EXAC_NFE_AF,ALMS1
442841,2:73653656:A>G,NM_015120.4:c.1313A>G,NP_055935.4:p.Glu439Gly,6/23,\N,Unknown significance,\N,missense_variant,16.78,0.0000149835,EXAC_NFE_AF,ALMS1
442842,2:73653665:C>G,NM_015120.4:c.1322C>G,NP_055935.4:p.Ala442Gly,6/23,\N,Likely benign,\N,missense_variant,15.91,\N,\N,ALMS1
442843,2:73653675:A>G,NM_015120.4:c.1332A>G,NP_055935.4:p.Gln445=,6/23,\N,Unknown significance,\N,synonymous_variant,0.03,0.00010202,EXAC_AFR_AF,ALMS1
442844,2:73653684:G>A,NM_015120.4:c.1338+3G>A,\N,\N,6/22,Unknown significance,\N,splice_region_variant&intron_variant,9.89,0.00020404,EXAC_AFR_AF,ALMS1
442845,2:73653696:A>C,NM_015120.4:c.1338+15A>C,\N,\N,6/22,Unknown significance,\N,intron_variant,5.322,0.0000149903,EXAC_NFE_AF,ALMS1
442846,2:73653699:G>A,NM_015120.4:c.1338+18G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,7.664,0.000265252,EVS_AA_AF,ALMS1
442847,2:73653700:A>G,NM_015120.4:c.1338+19A>G,\N,\N,6/22,Benign,\N,intron_variant,6.57,0.0119712,EXAC_EAS_AF,ALMS1
442848,2:73653702:A>G,NM_015120.4:c.1338+21A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.453,0.0000149939,EXAC_NFE_AF,ALMS1
442849,2:73653703:G>A,NM_015120.4:c.1338+22G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,2.083,0.0000149934,EXAC_NFE_AF,ALMS1
442850,2:73653706:G>A,NM_015120.4:c.1338+25G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.449,0.0000605767,EXAC_SAS_AF,ALMS1
442851,2:73653707:T>TA,NM_015120.4:c.1338+28dup,\N,\N,6/22,Unknown significance,\N,intron_variant,2.184,0.000102062,EXAC_AFR_AF,ALMS1
442852,2:73653708:A>C,NM_015120.4:c.1338+27A>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.728,0.0000605767,EXAC_SAS_AF,ALMS1
442853,2:73653713:ACGTGG>A,NM_015120.4:c.1338+34_1338+38del,\N,\N,6/22,Unknown significance,\N,intron_variant,2.888,\N,\N,ALMS1
442854,2:73653714:C>T,NM_015120.4:c.1338+33C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.543,0.0000150033,EXAC_NFE_AF,ALMS1
442855,2:73653715:G>A,NM_015120.4:c.1338+34G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.711,0.002,1KG_SAS_AF,ALMS1
442856,2:73653715:G>T,NM_015120.4:c.1338+34G>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.12,\N,\N,ALMS1
442857,2:73653721:T>G,NM_015120.4:c.1338+40T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,3.252,0.000151286,EXAC_FIN_AF,ALMS1
442858,2:73653727:A>G,NM_015120.4:c.1338+46A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.696,0.0000150227,EXAC_NFE_AF,ALMS1
442859,2:73653730:A>G,NM_015120.4:c.1338+49A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.976,0.0000870171,EXAC_AMR_AF,ALMS1
442860,2:73653796:A>G,NM_015120.4:c.1338+115A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.357,0.0043,1KG_AMR_AF,ALMS1
442861,2:73653809:G>A,NM_015120.4:c.1338+128G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,5.8,0.0008,1KG_AFR_AF,ALMS1
442862,2:73653813:A>T,NM_015120.4:c.1338+132A>T,\N,\N,6/22,Unknown significance,\N,intron_variant,7.706,\N,\N,ALMS1
442863,2:73653835:A>G,NM_015120.4:c.1338+154A>G,\N,\N,6/22,Benign,\N,intron_variant,11.83,0.0139,1KG_EUR_AF,ALMS1
442864,2:73653870:G>A,NM_015120.4:c.1338+189G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,6.714,0.001,1KG_EUR_AF,ALMS1
442865,2:73653965:G>A,NM_015120.4:c.1338+284G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.014,\N,\N,ALMS1
442866,2:73654001:A>G,NM_015120.4:c.1338+320A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.783,\N,\N,ALMS1
442867,2:73654002:T>C,NM_015120.4:c.1338+321T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,1.19,0.002,1KG_EAS_AF,ALMS1
442868,2:73654017:C>A,NM_015120.4:c.1338+336C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.533,\N,\N,ALMS1
442869,2:73654019:T>G,NM_015120.4:c.1338+338T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.807,\N,\N,ALMS1
442870,2:73654034:T>C,NM_015120.4:c.1338+353T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,2.578,0.0008,1KG_AFR_AF,ALMS1
442871,2:73654077:G>A,NM_015120.4:c.1338+396G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,3.859,\N,\N,ALMS1
442872,2:73654086:G>A,NM_015120.4:c.1338+405G>A,\N,\N,6/22,Benign,\N,intron_variant,2.485,0.0119,1KG_EAS_AF,ALMS1
442873,2:73654095:C>T,NM_015120.4:c.1338+414C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,4.08,0.002,1KG_EUR_AF,ALMS1
442874,2:73654111:T>C,NM_015120.4:c.1338+430T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,4.95,0.0008,1KG_AFR_AF,ALMS1
442875,2:73654135:G>A,NM_015120.4:c.1338+454G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.797,0.001,1KG_EAS_AF,ALMS1
442876,2:73654157:G>A,NM_015120.4:c.1338+476G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,8.07,\N,\N,ALMS1
442877,2:73654165:GA>G,NM_015120.4:c.1338+488del,\N,\N,6/22,Benign,\N,intron_variant,7.68,0.0666,1KG_AFR_AF,ALMS1
442878,2:73654168:A>G,NM_015120.4:c.1338+487A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,9.676,\N,\N,ALMS1
442879,2:73654208:G>T,NM_015120.4:c.1338+527G>T,\N,\N,6/22,Unknown significance,\N,intron_variant,2.76,\N,\N,ALMS1
442880,2:73654256:G>A,NM_015120.4:c.1338+575G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,8.258,\N,\N,ALMS1
442881,2:73654257:A>G,NM_015120.4:c.1338+576A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,7.377,\N,\N,ALMS1
442882,2:73654259:T>G,NM_015120.4:c.1338+578T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,6.446,0.0008,1KG_AFR_AF,ALMS1
442883,2:73654280:C>T,NM_015120.4:c.1338+599C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,5.309,0.0015,1KG_AFR_AF,ALMS1
442884,2:73654283:A>G,NM_015120.4:c.1338+602A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.714,0.0008,1KG_AFR_AF,ALMS1
442885,2:73654293:CT>C,NM_015120.4:c.1338+615del,\N,\N,6/22,Benign,\N,intron_variant,\N,0.0082,1KG_SAS_AF,ALMS1
442886,2:73654297:G>C,NM_015120.4:c.1338+616G>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.086,0.001,1KG_EAS_AF,ALMS1
442887,2:73654319:A>G,NM_015120.4:c.1338+638A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,3.143,0.001,1KG_SAS_AF,ALMS1
442888,2:73654361:C>A,NM_015120.4:c.1338+680C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,3.085,0.0008,1KG_AFR_AF,ALMS1
442889,2:73654363:G>A,NM_015120.4:c.1338+682G>A,\N,\N,6/22,Benign,\N,intron_variant,0.1,0.8578,1KG_AFR_AF,ALMS1
442890,2:73654400:CT>C,NM_015120.4:c.1338+721del,\N,\N,6/22,Unknown significance,\N,intron_variant,4.859,0.0038,1KG_AFR_AF,ALMS1
442891,2:73654453:G>A,NM_015120.4:c.1338+772G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.392,0.0008,1KG_AFR_AF,ALMS1
442892,2:73654478:A>G,NM_015120.4:c.1338+797A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.073,0.002,1KG_SAS_AF,ALMS1
442893,2:73654508:C>T,NM_015120.4:c.1338+827C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.813,0.001,1KG_EAS_AF,ALMS1
442894,2:73654517:G>C,NM_015120.4:c.1338+836G>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.199,\N,\N,ALMS1
442895,2:73654525:A>G,NM_015120.4:c.1338+844A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.079,\N,\N,ALMS1
442896,2:73654563:TTG>T,NM_015120.4:c.1338+894_1338+895del,\N,\N,6/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442897,2:73654575:G>A,NM_015120.4:c.1338+894G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.653,\N,\N,ALMS1
442898,2:73654581:G>GA,NM_015120.4:c.1338+903dup,\N,\N,6/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442899,2:73654608:A>C,NM_015120.4:c.1338+927A>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.425,0.001,1KG_EAS_AF,ALMS1
442900,2:73654638:T>G,NM_015120.4:c.1338+957T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,3.165,0.001,1KG_EUR_AF,ALMS1
442901,2:73654715:A>G,NM_015120.4:c.1338+1034A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,5.289,0.001,1KG_EUR_AF,ALMS1
442902,2:73654743:C>T,NM_015120.4:c.1338+1062C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,9.399,\N,\N,ALMS1
442903,2:73654767:C>A,NM_015120.4:c.1338+1086C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.674,\N,\N,ALMS1
442904,2:73654782:C>T,NM_015120.4:c.1338+1101C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.277,0.0015,1KG_AFR_AF,ALMS1
442905,2:73654807:T>A,NM_015120.4:c.1338+1126T>A,\N,\N,6/22,Unknown significance,\N,intron_variant,15.31,0.0014,1KG_AMR_AF,ALMS1
442906,2:73654808:C>A,NM_015120.4:c.1338+1127C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,14.56,0.0014,1KG_AMR_AF,ALMS1
442907,2:73654844:T>C,NM_015120.4:c.1338+1163T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,14.17,0.001,1KG_SAS_AF,ALMS1
442908,2:73654851:C>G,NM_015120.4:c.1338+1170C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,13.14,\N,\N,ALMS1
442909,2:73654871:T>C,NM_015120.4:c.1338+1190T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,3.098,\N,\N,ALMS1
442910,2:73654880:G>T,NM_015120.4:c.1338+1199G>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.947,\N,\N,ALMS1
442911,2:73654885:C>T,NM_015120.4:c.1338+1204C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.162,\N,\N,ALMS1
442912,2:73654886:G>A,NM_015120.4:c.1338+1205G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.165,0.004,1KG_EAS_AF,ALMS1
442913,2:73654915:G>C,NM_015120.4:c.1338+1234G>C,\N,\N,6/22,Benign,\N,intron_variant,0.263,0.005,1KG_EAS_AF,ALMS1
442914,2:73654918:C>A,NM_015120.4:c.1338+1237C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,3.49,\N,\N,ALMS1
442915,2:73654939:C>T,NM_015120.4:c.1338+1258C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,7.574,0.001,1KG_EAS_AF,ALMS1
442916,2:73654947:T>A,NM_015120.4:c.1338+1266T>A,\N,\N,6/22,Unknown significance,\N,intron_variant,7.882,\N,\N,ALMS1
442917,2:73654973:T>C,NM_015120.4:c.1338+1292T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,1.67,\N,\N,ALMS1
442918,2:73654975:C>T,NM_015120.4:c.1338+1294C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,6.633,\N,\N,ALMS1
442919,2:73655014:T>C,NM_015120.4:c.1338+1333T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,10.76,0.002,1KG_EAS_AF,ALMS1
442920,2:73655022:C>G,NM_015120.4:c.1338+1341C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,7.311,0.0008,1KG_AFR_AF,ALMS1
442921,2:73655029:T>C,NM_015120.4:c.1338+1348T>C,\N,\N,6/22,Benign,\N,intron_variant,5.773,0.0227,1KG_AFR_AF,ALMS1
442922,2:73655036:A>G,NM_015120.4:c.1338+1355A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,7.391,\N,\N,ALMS1
442923,2:73655050:T>G,NM_015120.4:c.1338+1369T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.702,0.001,1KG_SAS_AF,ALMS1
442924,2:73655097:G>C,NM_015120.4:c.1338+1416G>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.502,\N,\N,ALMS1
442925,2:73655103:G>A,NM_015120.4:c.1338+1422G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.543,0.0008,1KG_AFR_AF,ALMS1
442926,2:73655115:A>G,NM_015120.4:c.1338+1434A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,13.79,0.001,1KG_SAS_AF,ALMS1
442927,2:73655123:C>A,NM_015120.4:c.1338+1442C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,15.28,0.001,1KG_EAS_AF,ALMS1
442928,2:73655128:ATAT>A,NM_015120.4:c.1338+1451_1338+1453del,\N,\N,6/22,Unknown significance,\N,intron_variant,\N,0.0031,1KG_SAS_AF,ALMS1
442929,2:73655134:T>C,NM_015120.4:c.1338+1453T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,1.766,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ALMS1
442930,2:73655136:A>G,NM_015120.4:c.1338+1455A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.254,\N,\N,ALMS1
442931,2:73655150:A>G,NM_015120.4:c.1338+1469A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,5.832,0.0008,1KG_AFR_AF,ALMS1
442932,2:73655263:G>A,NM_015120.4:c.1338+1582G>A,\N,\N,6/22,Benign,\N,intron_variant,8.963,0.0051,1KG_SAS_AF,ALMS1
442933,2:73655273:A>G,NM_015120.4:c.1338+1592A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,8.812,0.001,1KG_EAS_AF,ALMS1
442934,2:73655276:T>A,NM_015120.4:c.1338+1595T>A,\N,\N,6/22,Unknown significance,\N,intron_variant,8.394,\N,\N,ALMS1
442935,2:73655285:A>G,NM_015120.4:c.1338+1604A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,6.74,0.0014,1KG_AMR_AF,ALMS1
442936,2:73655286:G>A,NM_015120.4:c.1338+1605G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.452,0.0014,1KG_AMR_AF,ALMS1
442937,2:73655363:G>A,NM_015120.4:c.1338+1682G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.842,\N,\N,ALMS1
442938,2:73655368:T>C,NM_015120.4:c.1338+1687T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,5.403,0.003,1KG_AFR_AF,ALMS1
442939,2:73655394:C>T,NM_015120.4:c.1338+1713C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,2.956,\N,\N,ALMS1
442940,2:73655426:T>C,NM_015120.4:c.1338+1745T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,3.541,0.001,1KG_SAS_AF,ALMS1
442941,2:73655496:T>C,NM_015120.4:c.1338+1815T>C,\N,\N,6/22,Benign,\N,intron_variant,2.746,0.7927,1KG_EAS_AF,ALMS1
442942,2:73655499:C>G,NM_015120.4:c.1338+1818C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.344,0.0015,1KG_AFR_AF,ALMS1
442943,2:73655526:G>A,NM_015120.4:c.1338+1845G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,2.704,\N,\N,ALMS1
442944,2:73655610:A>G,NM_015120.4:c.1338+1929A>G,\N,\N,6/22,Benign,\N,intron_variant,9.131,0.1354,1KG_AMR_AF,ALMS1
442945,2:73655614:G>T,NM_015120.4:c.1338+1933G>T,\N,\N,6/22,Benign,\N,intron_variant,8.058,0.0153,1KG_SAS_AF,ALMS1
442946,2:73655754:A>G,NM_015120.4:c.1338+2073A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,8.189,0.001,1KG_EAS_AF,ALMS1
442947,2:73655779:T>TA,NM_015120.4:c.1338+2101dup,\N,\N,6/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442948,2:73655816:A>G,NM_015120.4:c.1338+2135A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,7.259,0.0015,1KG_AFR_AF,ALMS1
442949,2:73655820:T>C,NM_015120.4:c.1338+2139T>C,\N,\N,6/22,Benign,\N,intron_variant,5.939,0.0099,1KG_EAS_AF,ALMS1
442950,2:73655824:A>G,NM_015120.4:c.1338+2143A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.241,0.003,1KG_EAS_AF,ALMS1
442951,2:73655853:G>A,NM_015120.4:c.1338+2172G>A,\N,\N,6/22,Benign,\N,intron_variant,0.726,0.0287,1KG_AFR_AF,ALMS1
442952,2:73655858:A>G,NM_015120.4:c.1338+2177A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.058,\N,\N,ALMS1
442953,2:73655862:G>A,NM_015120.4:c.1338+2181G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.202,0.001,1KG_EAS_AF,ALMS1
442954,2:73655879:A>T,NM_015120.4:c.1338+2198A>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.96,\N,\N,ALMS1
442955,2:73655897:A>G,NM_015120.4:c.1338+2216A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.096,0.002,1KG_EAS_AF,ALMS1
442956,2:73655898:T>G,NM_015120.4:c.1338+2217T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.825,\N,\N,ALMS1
442957,2:73655963:G>A,NM_015120.4:c.1338+2282G>A,\N,\N,6/22,Benign,\N,intron_variant,3.75,0.0079,1KG_EAS_AF,ALMS1
442958,2:73655972:C>T,NM_015120.4:c.1338+2291C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,2.879,0.001,1KG_EAS_AF,ALMS1
442959,2:73655974:CCTT>C,NM_015120.4:c.1338+2294_1338+2296del,\N,\N,6/22,Benign,\N,intron_variant,4.102,0.0688,1KG_AFR_AF,ALMS1
442960,2:73655997:C>T,NM_015120.4:c.1338+2316C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,5.366,\N,\N,ALMS1
442961,2:73656005:T>C,NM_015120.4:c.1338+2324T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,4.426,\N,\N,ALMS1
442962,2:73656032:G>GGTTCACTT,NM_015120.4:c.1338+2352_1338+2359dup,\N,\N,6/22,Benign,\N,intron_variant,3.971,0.0197,1KG_AFR_AF,ALMS1
442963,2:73656057:T>C,NM_015120.4:c.1338+2376T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,8.215,\N,\N,ALMS1
442964,2:73656062:G>A,NM_015120.4:c.1338+2381G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,9.878,\N,\N,ALMS1
442965,2:73656071:G>A,NM_015120.4:c.1338+2390G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,8.876,0.0008,1KG_AFR_AF,ALMS1
442966,2:73656144:G>T,NM_015120.4:c.1338+2463G>T,\N,\N,6/22,Unknown significance,\N,intron_variant,2.216,\N,\N,ALMS1
442967,2:73656196:C>T,NM_015120.4:c.1338+2515C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,2.731,0.0008,1KG_AFR_AF,ALMS1
442968,2:73656198:G>A,NM_015120.4:c.1338+2517G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.685,0.002,1KG_SAS_AF,ALMS1
442969,2:73656207:A>G,NM_015120.4:c.1338+2526A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.369,0.0031,1KG_SAS_AF,ALMS1
442970,2:73656216:G>A,NM_015120.4:c.1338+2535G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.252,\N,\N,ALMS1
442971,2:73656221:A>G,NM_015120.4:c.1338+2540A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.163,0.001,1KG_EUR_AF,ALMS1
442972,2:73656239:C>T,NM_015120.4:c.1338+2558C>T,\N,\N,6/22,Benign,\N,intron_variant,1.247,0.0199,1KG_EUR_AF,ALMS1
442973,2:73656294:T>G,NM_015120.4:c.1338+2613T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.934,0.001,1KG_EUR_AF,ALMS1
442974,2:73656306:GCTGAAACTAGA>G,NM_015120.4:c.1338+2628_1338+2638del,\N,\N,6/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
442975,2:73656361:G>C,NM_015120.4:c.1338+2680G>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.118,0.0023,1KG_AFR_AF,ALMS1
442976,2:73656376:T>G,NM_015120.4:c.1338+2695T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.893,0.001,1KG_EUR_AF,ALMS1
442977,2:73656406:C>CT,NM_015120.4:c.1338+2745dup,\N,\N,6/22,Unknown significance,\N,intron_variant,6.917,\N,\N,ALMS1
442978,2:73656406:CT>C,NM_015120.4:c.1338+2745del,\N,\N,6/22,Benign,\N,intron_variant,5.637,0.6649,1KG_AFR_AF,ALMS1
442979,2:73656406:CTT>C,NM_015120.4:c.1338+2744_1338+2745del,\N,\N,6/22,Unknown significance,\N,intron_variant,5.419,\N,\N,ALMS1
442980,2:73656406:CTTT>C,NM_015120.4:c.1338+2743_1338+2745del,\N,\N,6/22,Unknown significance,\N,intron_variant,6.504,\N,\N,ALMS1
442981,2:73656431:C>T,NM_015120.4:c.1338+2750C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.896,\N,\N,ALMS1
442982,2:73656434:A>C,NM_015120.4:c.1338+2753A>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.209,0.0008,1KG_AFR_AF,ALMS1
442983,2:73656435:G>A,NM_015120.4:c.1338+2754G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.395,0.0008,1KG_AFR_AF,ALMS1
442984,2:73656466:A>G,NM_015120.4:c.1338+2785A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.392,0.0008,1KG_AFR_AF,ALMS1
442985,2:73656471:A>G,NM_015120.4:c.1338+2790A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.641,0.001,1KG_EAS_AF,ALMS1
442986,2:73656478:C>T,NM_015120.4:c.1338+2797C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.586,0.0014,1KG_AMR_AF,ALMS1
442987,2:73656495:C>T,NM_015120.4:c.1338+2814C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.53,0.001,1KG_SAS_AF,ALMS1
442988,2:73656530:G>A,NM_015120.4:c.1339-2796G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.187,0.001,1KG_EAS_AF,ALMS1
442989,2:73656536:A>G,NM_015120.4:c.1339-2790A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.068,0.0038,1KG_AFR_AF,ALMS1
442990,2:73656541:C>G,NM_015120.4:c.1339-2785C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.971,0.002,1KG_EUR_AF,ALMS1
442991,2:73656553:G>A,NM_015120.4:c.1339-2773G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,2.271,0.001,1KG_EUR_AF,ALMS1
442992,2:73656569:C>G,NM_015120.4:c.1339-2757C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.723,\N,\N,ALMS1
442993,2:73656599:C>T,NM_015120.4:c.1339-2727C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.488,\N,\N,ALMS1
442994,2:73656700:C>T,NM_015120.4:c.1339-2626C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.411,0.001,1KG_EAS_AF,ALMS1
442995,2:73656701:G>A,NM_015120.4:c.1339-2625G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.218,0.001,1KG_SAS_AF,ALMS1
442996,2:73656777:T>C,NM_015120.4:c.1339-2549T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,2.38,0.001,1KG_EAS_AF,ALMS1
442997,2:73656780:G>A,NM_015120.4:c.1339-2546G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,2.476,\N,\N,ALMS1
442998,2:73656785:C>A,NM_015120.4:c.1339-2541C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,8.033,\N,\N,ALMS1
442999,2:73656801:A>G,NM_015120.4:c.1339-2525A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.082,0.001,1KG_SAS_AF,ALMS1
443000,2:73656810:C>A,NM_015120.4:c.1339-2516C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.908,0.001,1KG_EAS_AF,ALMS1
443001,2:73656855:C>T,NM_015120.4:c.1339-2471C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,5.631,\N,\N,ALMS1
443002,2:73656875:T>C,NM_015120.4:c.1339-2451T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,4.277,0.0014,1KG_AMR_AF,ALMS1
443003,2:73656933:A>G,NM_015120.4:c.1339-2393A>G,\N,\N,6/22,Benign,\N,intron_variant,9.929,0.0083,1KG_AFR_AF,ALMS1
443004,2:73656934:C>T,NM_015120.4:c.1339-2392C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,11.07,0.0008,1KG_AFR_AF,ALMS1
443005,2:73656935:T>A,NM_015120.4:c.1339-2391T>A,\N,\N,6/22,Unknown significance,\N,intron_variant,11.45,0.001,1KG_EAS_AF,ALMS1
443006,2:73656942:A>G,NM_015120.4:c.1339-2384A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,5.123,\N,\N,ALMS1
443007,2:73656978:T>G,NM_015120.4:c.1339-2348T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.848,0.0023,1KG_AFR_AF,ALMS1
443008,2:73656979:G>A,NM_015120.4:c.1339-2347G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.354,\N,\N,ALMS1
443009,2:73657107:C>T,NM_015120.4:c.1339-2219C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,10.3,0.0008,1KG_AFR_AF,ALMS1
443010,2:73657126:A>G,NM_015120.4:c.1339-2200A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,16.24,\N,\N,ALMS1
443011,2:73657166:C>G,NM_015120.4:c.1339-2160C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,13.28,\N,\N,ALMS1
443012,2:73657169:A>G,NM_015120.4:c.1339-2157A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,14.88,\N,\N,ALMS1
443013,2:73657205:CT>C,NM_015120.4:c.1339-2104del,\N,\N,6/22,Benign,\N,intron_variant,10.76,0.1801,1KG_AMR_AF,ALMS1
443014,2:73657216:T>G,NM_015120.4:c.1339-2110T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.28,0.001,1KG_SAS_AF,ALMS1
443015,2:73657220:T>G,NM_015120.4:c.1339-2106T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,3.041,\N,\N,ALMS1
443016,2:73657231:G>A,NM_015120.4:c.1339-2095G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.081,\N,\N,ALMS1
443017,2:73657304:A>T,NM_015120.4:c.1339-2022A>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.48,0.001,1KG_EAS_AF,ALMS1
443018,2:73657315:C>T,NM_015120.4:c.1339-2011C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,1.012,\N,\N,ALMS1
443019,2:73657321:C>T,NM_015120.4:c.1339-2005C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,2.881,0.0014,1KG_AMR_AF,ALMS1
443020,2:73657323:G>A,NM_015120.4:c.1339-2003G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,2.598,\N,\N,ALMS1
443021,2:73657430:T>G,NM_015120.4:c.1339-1896T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,3.841,0.002,1KG_EAS_AF,ALMS1
443022,2:73657436:C>T,NM_015120.4:c.1339-1890C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,3.326,0.004,1KG_EAS_AF,ALMS1
443023,2:73657446:C>T,NM_015120.4:c.1339-1880C>T,\N,\N,6/22,Benign,\N,intron_variant,0.383,0.1715,1KG_AMR_AF,ALMS1
443024,2:73657453:C>T,NM_015120.4:c.1339-1873C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,2.775,0.0014,1KG_AMR_AF,ALMS1
443025,2:73657483:C>T,NM_015120.4:c.1339-1843C>T,\N,\N,6/22,Benign,\N,intron_variant,0.413,0.0666,1KG_AFR_AF,ALMS1
443026,2:73657504:G>A,NM_015120.4:c.1339-1822G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,8.077,\N,\N,ALMS1
443027,2:73657512:C>T,NM_015120.4:c.1339-1814C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,12.77,0.0008,1KG_AFR_AF,ALMS1
443028,2:73657530:A>G,NM_015120.4:c.1339-1796A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.475,\N,\N,ALMS1
443029,2:73657530:AT>A,NM_015120.4:c.1339-1792del,\N,\N,6/22,Unknown significance,\N,intron_variant,6.563,0.0029,1KG_AMR_AF,ALMS1
443030,2:73657537:A>C,NM_015120.4:c.1339-1789A>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.234,\N,\N,ALMS1
443031,2:73657629:A>G,NM_015120.4:c.1339-1697A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.073,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
443032,2:73657635:AAC>A,NM_015120.4:c.1339-1684_1339-1683del,\N,\N,6/22,Benign,\N,intron_variant,2.007,0.056,1KG_AFR_AF,ALMS1
443033,2:73657643:C>A,NM_015120.4:c.1339-1683C>A,\N,\N,6/22,Benign,\N,intron_variant,1.692,0.0083,1KG_AFR_AF,ALMS1
443034,2:73657692:A>G,NM_015120.4:c.1339-1634A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.951,0.001,1KG_EAS_AF,ALMS1
443035,2:73657704:G>A,NM_015120.4:c.1339-1622G>A,\N,\N,6/22,Benign,\N,intron_variant,0.388,0.2557,1KG_AFR_AF,ALMS1
443036,2:73657728:A>G,NM_015120.4:c.1339-1598A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.03,\N,\N,ALMS1
443037,2:73657729:G>A,NM_015120.4:c.1339-1597G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.619,\N,\N,ALMS1
443038,2:73657779:G>A,NM_015120.4:c.1339-1547G>A,\N,\N,6/22,Benign,\N,intron_variant,0.642,0.0666,1KG_AFR_AF,ALMS1
443039,2:73657846:T>C,NM_015120.4:c.1339-1480T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,1.62,\N,\N,ALMS1
443040,2:73657852:G>A,NM_015120.4:c.1339-1474G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.811,0.0029,1KG_AMR_AF,ALMS1
443041,2:73657873:A>G,NM_015120.4:c.1339-1453A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.961,0.003,1KG_AFR_AF,ALMS1
443042,2:73657885:T>C,NM_015120.4:c.1339-1441T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.157,0.003,1KG_EAS_AF,ALMS1
443043,2:73657904:G>A,NM_015120.4:c.1339-1422G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.463,0.004,1KG_EUR_AF,ALMS1
443044,2:73657912:G>A,NM_015120.4:c.1339-1414G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.659,0.001,1KG_SAS_AF,ALMS1
443045,2:73657978:C>A,NM_015120.4:c.1339-1348C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.671,0.0015,1KG_AFR_AF,ALMS1
443046,2:73657979:C>A,NM_015120.4:c.1339-1347C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.727,\N,\N,ALMS1
443047,2:73658011:A>G,NM_015120.4:c.1339-1315A>G,\N,\N,6/22,Benign,\N,intron_variant,2.512,0.0164,1KG_SAS_AF,ALMS1
443048,2:73658021:A>G,NM_015120.4:c.1339-1305A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.476,\N,\N,ALMS1
443049,2:73658074:G>A,NM_015120.4:c.1339-1252G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.887,\N,\N,ALMS1
443050,2:73658098:G>C,NM_015120.4:c.1339-1228G>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.564,\N,\N,ALMS1
443051,2:73658182:T>G,NM_015120.4:c.1339-1144T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,7.462,0.0008,1KG_AFR_AF,ALMS1
443052,2:73658188:T>A,NM_015120.4:c.1339-1138T>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.536,0.001,1KG_EUR_AF,ALMS1
443053,2:73658196:G>C,NM_015120.4:c.1339-1130G>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.913,0.001,1KG_SAS_AF,ALMS1
443054,2:73658202:G>A,NM_015120.4:c.1339-1124G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.362,0.001,1KG_EUR_AF,ALMS1
443055,2:73658239:A>G,NM_015120.4:c.1339-1087A>G,\N,\N,6/22,Benign,\N,intron_variant,2.303,0.0061,1KG_SAS_AF,ALMS1
443056,2:73658305:A>T,NM_015120.4:c.1339-1021A>T,\N,\N,6/22,Unknown significance,\N,intron_variant,3.502,0.001,1KG_SAS_AF,ALMS1
443057,2:73658331:C>T,NM_015120.4:c.1339-995C>T,\N,\N,6/22,Benign,\N,intron_variant,2.476,0.5688,1KG_AFR_AF,ALMS1
443058,2:73658397:A>C,NM_015120.4:c.1339-929A>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.031,\N,\N,ALMS1
443059,2:73658436:T>C,NM_015120.4:c.1339-890T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.464,0.0014,1KG_AMR_AF,ALMS1
443060,2:73658447:G>T,NM_015120.4:c.1339-879G>T,\N,\N,6/22,Unknown significance,\N,intron_variant,8.731,\N,\N,ALMS1
443061,2:73658458:A>G,NM_015120.4:c.1339-868A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,7.748,0.001,1KG_EAS_AF,ALMS1
443062,2:73658477:A>C,NM_015120.4:c.1339-849A>C,\N,\N,6/22,Benign,\N,intron_variant,0.822,0.0288,1KG_EAS_AF,ALMS1
443063,2:73658486:G>T,NM_015120.4:c.1339-840G>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.7,\N,\N,ALMS1
443064,2:73658499:A>G,NM_015120.4:c.1339-827A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.704,0.002,1KG_EAS_AF,ALMS1
443065,2:73658500:T>C,NM_015120.4:c.1339-826T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,2.05,\N,\N,ALMS1
443066,2:73658512:T>C,NM_015120.4:c.1339-814T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,1.239,\N,\N,ALMS1
443067,2:73658567:A>G,NM_015120.4:c.1339-759A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.435,0.001,1KG_SAS_AF,ALMS1
443068,2:73658573:T>C,NM_015120.4:c.1339-753T>C,\N,\N,6/22,Benign,\N,intron_variant,0.855,0.9977,1KG_AFR_AF,ALMS1
443069,2:73658585:A>G,NM_015120.4:c.1339-741A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.395,\N,\N,ALMS1
443070,2:73658586:T>C,NM_015120.4:c.1339-740T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,0.871,0.001,1KG_SAS_AF,ALMS1
443071,2:73658595:A>T,NM_015120.4:c.1339-731A>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.712,\N,\N,ALMS1
443072,2:73658614:A>T,NM_015120.4:c.1339-712A>T,\N,\N,6/22,Unknown significance,\N,intron_variant,5.967,0.001,1KG_EUR_AF,ALMS1
443073,2:73658654:C>A,NM_015120.4:c.1339-672C>A,\N,\N,6/22,Unknown significance,\N,intron_variant,2.483,\N,\N,ALMS1
443074,2:73658668:A>G,NM_015120.4:c.1339-658A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.388,\N,\N,ALMS1
443075,2:73658669:A>G,NM_015120.4:c.1339-657A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,5.718,0.0008,1KG_AFR_AF,ALMS1
443076,2:73658686:A>G,NM_015120.4:c.1339-640A>G,\N,\N,6/22,Benign,\N,intron_variant,1.906,0.8578,1KG_AFR_AF,ALMS1
443077,2:73658688:C>G,NM_015120.4:c.1339-638C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,1.787,0.001,1KG_EAS_AF,ALMS1
443078,2:73658713:A>G,NM_015120.4:c.1339-613A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,5.942,0.001,1KG_SAS_AF,ALMS1
443079,2:73658764:C>T,NM_015120.4:c.1339-562C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,0.941,\N,\N,ALMS1
443080,2:73658791:C>T,NM_015120.4:c.1339-535C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,13.75,0.001,1KG_SAS_AF,ALMS1
443081,2:73658795:T>C,NM_015120.4:c.1339-531T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,2.951,\N,\N,ALMS1
443082,2:73658810:G>A,NM_015120.4:c.1339-516G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,4.573,0.001,1KG_SAS_AF,ALMS1
443083,2:73658881:G>C,NM_015120.4:c.1339-445G>C,\N,\N,6/22,Unknown significance,\N,intron_variant,4.244,\N,\N,ALMS1
443084,2:73658892:C>T,NM_015120.4:c.1339-434C>T,\N,\N,6/22,Unknown significance,\N,intron_variant,3.223,0.001,1KG_EUR_AF,ALMS1
443085,2:73658943:A>G,NM_015120.4:c.1339-383A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,0.672,0.0008,1KG_AFR_AF,ALMS1
443086,2:73658955:C>G,NM_015120.4:c.1339-371C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,5.269,0.0008,1KG_AFR_AF,ALMS1
443087,2:73658958:G>A,NM_015120.4:c.1339-368G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,3.951,\N,\N,ALMS1
443088,2:73658984:G>A,NM_015120.4:c.1339-342G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,0.424,0.003,1KG_AFR_AF,ALMS1
443089,2:73658991:A>G,NM_015120.4:c.1339-335A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,3.31,0.001,1KG_EAS_AF,ALMS1
443090,2:73658995:G>A,NM_015120.4:c.1339-331G>A,\N,\N,6/22,Benign,\N,intron_variant,3.419,0.0166,1KG_AFR_AF,ALMS1
443091,2:73659020:A>T,NM_015120.4:c.1339-306A>T,\N,\N,6/22,Unknown significance,\N,intron_variant,5.011,0.001,1KG_EAS_AF,ALMS1
443092,2:73659048:T>G,NM_015120.4:c.1339-278T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,2.439,0.0008,1KG_AFR_AF,ALMS1
443093,2:73659087:T>G,NM_015120.4:c.1339-239T>G,\N,\N,6/22,Benign,\N,intron_variant,11.08,0.0053,1KG_AFR_AF,ALMS1
443094,2:73659100:C>G,NM_015120.4:c.1339-226C>G,\N,\N,6/22,Unknown significance,\N,intron_variant,4.574,\N,\N,ALMS1
443095,2:73659134:G>A,NM_015120.4:c.1339-192G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,1.255,\N,\N,ALMS1
443096,2:73659152:A>G,NM_015120.4:c.1339-174A>G,\N,\N,6/22,Unknown significance,\N,intron_variant,7.703,0.0014,1KG_AMR_AF,ALMS1
443097,2:73659252:C>T,NM_015120.4:c.1339-74C>T,\N,\N,6/22,Benign,\N,intron_variant,8.04,0.0092,1KG_SAS_AF,ALMS1
443098,2:73659253:G>A,NM_015120.4:c.1339-73G>A,\N,\N,6/22,Unknown significance,\N,intron_variant,5.775,0.001,1KG_EUR_AF,ALMS1
443099,2:73659265:T>C,NM_015120.4:c.1339-61T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,2.615,\N,\N,ALMS1
443100,2:73659292:T>C,NM_015120.4:c.1339-34T>C,\N,\N,6/22,Unknown significance,\N,intron_variant,13.7,0.0000150119,EXAC_NFE_AF,ALMS1
443101,2:73659299:T>G,NM_015120.4:c.1339-27T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,13.35,0.000116523,EXAC_EAS_AF,ALMS1
443102,2:73659303:T>G,NM_015120.4:c.1339-23T>G,\N,\N,6/22,Unknown significance,\N,intron_variant,17.94,0.0000606061,EXAC_SAS_AF,ALMS1
443103,2:73659310:A>C,NM_015120.4:c.1339-16A>C,\N,\N,6/22,Unknown significance,\N,intron_variant,15.45,0.000014997,EXAC_NFE_AF,ALMS1
443104,2:73659321:A>T,NM_015120.4:c.1339-5A>T,\N,\N,6/22,Unknown significance,\N,splice_region_variant&intron_variant,9.565,0.000271444,EVS_AA_AF,ALMS1
443105,2:73659323:A>C,NM_015120.4:c.1339-3A>C,\N,\N,6/22,Unknown significance,\N,splice_region_variant&intron_variant,5.288,0.001,1KG_EUR_AF,ALMS1
443106,2:73659326:C>G,NM_015120.4:c.1339C>G,NP_055935.4:p.Pro448Ala,7/23,\N,Likely benign,\N,missense_variant&splice_region_variant,22.5,0.000122249,EVS_EA_AF,ALMS1
443107,2:73659330:C>G,NM_015120.4:c.1343C>G,NP_055935.4:p.Thr449Arg,7/23,\N,Likely benign,\N,missense_variant,7.373,0.0000899469,EXAC_NFE_AF,ALMS1
443108,2:73659330:C>T,NM_015120.4:c.1343C>T,NP_055935.4:p.Thr449Ile,7/23,\N,Likely benign,\N,missense_variant,8.069,0.0000149912,EXAC_NFE_AF,ALMS1
443109,2:73659332:A>G,NM_015120.4:c.1345A>G,NP_055935.4:p.Arg450Gly,7/23,\N,Likely benign,\N,missense_variant,2.784,0.0000149903,EXAC_NFE_AF,ALMS1
443110,2:73659339:C>A,NM_015120.4:c.1352C>A,NP_055935.4:p.Ser452Ter,7/23,\N,Unknown significance,\N,stop_gained,35,0.00010202,EXAC_AFR_AF,ALMS1
443111,2:73659339:C>T,NM_015120.4:c.1352C>T,NP_055935.4:p.Ser452Leu,7/23,\N,Likely benign,\N,missense_variant,9.646,0.0008,1KG_AFR_AF,ALMS1
443112,2:73659340:G>A,NM_015120.4:c.1353G>A,NP_055935.4:p.Ser452=,7/23,\N,Unknown significance,\N,synonymous_variant,12.81,0.00012213,EVS_EA_AF,ALMS1
443113,2:73659345:A>G,NM_015120.4:c.1358A>G,NP_055935.4:p.Tyr454Cys,7/23,\N,Unknown significance,\N,missense_variant,24.6,0.000116252,EXAC_EAS_AF,ALMS1
443114,2:73659366:T>C,NM_015120.4:c.1379T>C,NP_055935.4:p.Met461Thr,7/23,\N,Unknown significance,\N,missense_variant,23.5,0.0000149903,EXAC_NFE_AF,ALMS1
443115,2:73659369:T>C,NM_015120.4:c.1382T>C,NP_055935.4:p.Leu462Ser,7/23,\N,Unknown significance,\N,missense_variant,24,0.0000864603,EXAC_AMR_AF,ALMS1
443116,2:73659373:G>A,NM_015120.4:c.1386G>A,NP_055935.4:p.Arg463=,7/23,\N,Unknown significance,\N,synonymous_variant,0.74,0.0000149903,EXAC_NFE_AF,ALMS1
443117,2:73659373:G>T,NM_015120.4:c.1386G>T,NP_055935.4:p.Arg463Ser,7/23,\N,Unknown significance,\N,missense_variant,17.07,0.0000149903,EXAC_NFE_AF,ALMS1
443118,2:73659379:TCCTGACACTGTGCC>T,NM_015120.4:c.1393_1406del,NP_055935.4:p.Pro466LysfsTer4,7/23,\N,Unknown significance,\N,frameshift_variant,26.7,\N,\N,ALMS1
443119,2:73659380:C>T,NM_015120.4:c.1393C>T,NP_055935.4:p.Pro466Ser,7/23,\N,Likely benign,\N,missense_variant,23.4,0.0000149912,EXAC_NFE_AF,ALMS1
443120,2:73659387:C>T,NM_015120.4:c.1400C>T,NP_055935.4:p.Thr468Ile,7/23,\N,Likely benign,\N,missense_variant,16.43,0.001,1KG_SAS_AF,ALMS1
443121,2:73659388:T>G,NM_015120.4:c.1401T>G,NP_055935.4:p.Thr468=,7/23,\N,Unknown significance,\N,synonymous_variant,0.975,0.0000149948,EXAC_NFE_AF,ALMS1
443122,2:73659390:T>C,NM_015120.4:c.1403T>C,NP_055935.4:p.Val469Ala,7/23,\N,Unknown significance,\N,missense_variant,20.7,0.0000605987,EXAC_SAS_AF,ALMS1
443123,2:73659394:A>G,NM_015120.4:c.1407A>G,NP_055935.4:p.Pro470=,7/23,\N,Unknown significance,\N,synonymous_variant,0.209,0.0000150015,EXAC_NFE_AF,ALMS1
443124,2:73659398:G>A,NM_015120.4:c.1411G>A,NP_055935.4:p.Ala472Thr,7/23,\N,Likely benign,\N,missense_variant,0.003,0.0000606061,EXAC_SAS_AF,ALMS1
443125,2:73659403:T>C,NM_015120.4:c.1416T>C,NP_055935.4:p.Pro473=,7/23,\N,Unknown significance,\N,synonymous_variant,0.063,\N,\N,ALMS1
443126,2:73659405:A>C,NM_015120.4:c.1418A>C,NP_055935.4:p.Lys474Thr,7/23,\N,Likely benign,\N,missense_variant,9.99,\N,\N,ALMS1
443127,2:73659406:A>G,NM_015120.4:c.1419A>G,NP_055935.4:p.Lys474=,7/23,\N,Unknown significance,\N,synonymous_variant,0.701,0.0000606502,EXAC_SAS_AF,ALMS1
443128,2:73659407:C>A,NM_015120.4:c.1420C>A,NP_055935.4:p.His475Asn,7/23,\N,Unknown significance,\N,missense_variant,23.5,0.001,1KG_SAS_AF,ALMS1
443129,2:73659409:T>C,NM_015120.4:c.1422T>C,NP_055935.4:p.His475=,7/23,\N,Unknown significance,\N,synonymous_variant,0.005,0.0000150186,EXAC_NFE_AF,ALMS1
443130,2:73659412:A>G,NM_015120.4:c.1425A>G,NP_055935.4:p.Leu476=,7/23,\N,Unknown significance,\N,synonymous_variant,0.478,0.0000150304,EXAC_NFE_AF,ALMS1
443131,2:73659423:C>T,NM_015120.4:c.1432+4C>T,\N,\N,7/22,Unknown significance,\N,splice_region_variant&intron_variant,10.06,0.001,1KG_EAS_AF,ALMS1
443132,2:73659424:G>A,NM_015120.4:c.1432+5G>A,\N,\N,7/22,Unknown significance,\N,splice_region_variant&intron_variant,12.17,0.0000151108,EXAC_NFE_AF,ALMS1
443133,2:73659434:G>A,NM_015120.4:c.1432+15G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.671,0.000547345,EVS_AA_AF,ALMS1
443134,2:73659438:T>C,NM_015120.4:c.1432+19T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.64,0.0008,1KG_AFR_AF,ALMS1
443135,2:73659440:G>T,NM_015120.4:c.1432+21G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.732,0.000015345,EXAC_NFE_AF,ALMS1
443136,2:73659447:T>G,NM_015120.4:c.1432+28T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.023,\N,\N,ALMS1
443137,2:73659450:T>C,NM_015120.4:c.1432+31T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.419,0.0000155914,EXAC_NFE_AF,ALMS1
443138,2:73659451:A>G,NM_015120.4:c.1432+32A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.081,\N,\N,ALMS1
443139,2:73659455:AC>A,NM_015120.4:c.1432+37del,\N,\N,7/22,Unknown significance,\N,intron_variant,0.554,0.000104734,EXAC_AFR_AF,ALMS1
443140,2:73659456:C>T,NM_015120.4:c.1432+37C>T,\N,\N,7/22,Benign,\N,intron_variant,1.446,0.042987,EVS_EA_AF,ALMS1
443141,2:73659457:G>A,NM_015120.4:c.1432+38G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.875,0.000554939,EVS_AA_AF,ALMS1
443142,2:73659463:C>T,NM_015120.4:c.1432+44C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,5.679,0.0000630438,EXAC_SAS_AF,ALMS1
443143,2:73659466:G>C,NM_015120.4:c.1432+47G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.89,0.000619003,EXAC_FIN_AF,ALMS1
443144,2:73659471:A>G,NM_015120.4:c.1432+52A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.636,0.00154044,EXAC_SAS_AF,ALMS1
443145,2:73659484:AG>A,NM_015120.4:c.1432+67del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443146,2:73659532:A>G,NM_015120.4:c.1432+113A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.551,0.002,1KG_EUR_AF,ALMS1
443147,2:73659534:A>T,NM_015120.4:c.1432+115A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.772,\N,\N,ALMS1
443148,2:73659558:CTT>C,NM_015120.4:c.1432+140_1432+141del,\N,\N,7/22,Unknown significance,\N,intron_variant,2.39,\N,\N,ALMS1
443149,2:73659562:G>A,NM_015120.4:c.1432+143G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.451,0.001,1KG_EAS_AF,ALMS1
443150,2:73659573:CTGCTATTA>AGGATAGCAGT,NM_015120.4:c.1432+154_1432+162delinsAGGATAGCAGT,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443151,2:73659586:AATATCTT>GAGAGA,NM_015120.4:c.1432+167_1432+174delinsGAGAGA,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443152,2:73659608:G>A,NM_015120.4:c.1432+189G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,10.1,\N,\N,ALMS1
443153,2:73659637:G>A,NM_015120.4:c.1432+218G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.087,0.0008,1KG_AFR_AF,ALMS1
443154,2:73659666:G>A,NM_015120.4:c.1432+247G>A,\N,\N,7/22,Benign,\N,intron_variant,6.384,0.1383,1KG_AMR_AF,ALMS1
443155,2:73659711:G>A,NM_015120.4:c.1432+292G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.664,0.001,1KG_EUR_AF,ALMS1
443156,2:73659717:T>G,NM_015120.4:c.1432+298T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.896,\N,\N,ALMS1
443157,2:73659722:C>T,NM_015120.4:c.1432+303C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.403,\N,\N,ALMS1
443158,2:73659729:C>G,NM_015120.4:c.1432+310C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.072,0.001,1KG_EUR_AF,ALMS1
443159,2:73659734:A>G,NM_015120.4:c.1432+315A>G,\N,\N,7/22,Benign,\N,intron_variant,1.964,0.999,1KG_EAS_AF,ALMS1
443160,2:73659737:G>A,NM_015120.4:c.1432+318G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.712,0.0014,1KG_AMR_AF,ALMS1
443161,2:73659748:AG>A,NM_015120.4:c.1432+334del,\N,\N,7/22,Benign,\N,intron_variant,0.929,0.0129,1KG_AFR_AF,ALMS1
443162,2:73659767:G>GT,NM_015120.4:c.1432+354dup,\N,\N,7/22,Benign,\N,intron_variant,0.929,0.1383,1KG_AMR_AF,ALMS1
443163,2:73659817:T>A,NM_015120.4:c.1432+398T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.697,0.0015,1KG_AFR_AF,ALMS1
443164,2:73659840:A>G,NM_015120.4:c.1432+421A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.374,0.001,1KG_SAS_AF,ALMS1
443165,2:73659868:T>G,NM_015120.4:c.1432+449T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.152,0.001,1KG_SAS_AF,ALMS1
443166,2:73659882:A>G,NM_015120.4:c.1432+463A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.418,0.001,1KG_EAS_AF,ALMS1
443167,2:73659893:G>T,NM_015120.4:c.1432+474G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.846,0.003,1KG_EUR_AF,ALMS1
443168,2:73659919:C>A,NM_015120.4:c.1432+500C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.157,0.001,1KG_EAS_AF,ALMS1
443169,2:73659929:G>C,NM_015120.4:c.1432+510G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.267,0.0015,1KG_AFR_AF,ALMS1
443170,2:73659955:T>G,NM_015120.4:c.1432+536T>G,\N,\N,7/22,Benign,\N,intron_variant,4.577,0.0666,1KG_AFR_AF,ALMS1
443171,2:73659963:C>T,NM_015120.4:c.1432+544C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.755,0.0015,1KG_AFR_AF,ALMS1
443172,2:73659964:G>A,NM_015120.4:c.1432+545G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.285,0.001,1KG_EAS_AF|1KG_EUR_AF,ALMS1
443173,2:73659972:C>T,NM_015120.4:c.1432+553C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,5.045,0.0014,1KG_AMR_AF,ALMS1
443174,2:73659984:T>C,NM_015120.4:c.1432+565T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,8.57,\N,\N,ALMS1
443175,2:73660031:C>T,NM_015120.4:c.1432+612C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.4,\N,\N,ALMS1
443176,2:73660044:G>C,NM_015120.4:c.1432+625G>C,\N,\N,7/22,Benign,\N,intron_variant,0.325,0.0209,1KG_EUR_AF,ALMS1
443177,2:73660103:A>G,NM_015120.4:c.1432+684A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,17.11,0.0014,1KG_AMR_AF,ALMS1
443178,2:73660141:C>G,NM_015120.4:c.1432+722C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,18.76,0.0008,1KG_AFR_AF,ALMS1
443179,2:73660171:G>T,NM_015120.4:c.1432+752G>T,\N,\N,7/22,Benign,\N,intron_variant,9.466,0.0719,1KG_AFR_AF,ALMS1
443180,2:73660194:GA>G,NM_015120.4:c.1432+776del,\N,\N,7/22,Unknown significance,\N,intron_variant,3.487,\N,\N,ALMS1
443181,2:73660244:G>T,NM_015120.4:c.1432+825G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,6.962,\N,\N,ALMS1
443182,2:73660287:C>T,NM_015120.4:c.1432+868C>T,\N,\N,7/22,Benign,\N,intron_variant,3.674,0.1023,1KG_AMR_AF,ALMS1
443183,2:73660291:G>C,NM_015120.4:c.1432+872G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.658,\N,\N,ALMS1
443184,2:73660303:G>C,NM_015120.4:c.1432+884G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.452,\N,\N,ALMS1
443185,2:73660321:TATA>T,NM_015120.4:c.1432+906_1432+908del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443186,2:73660367:T>C,NM_015120.4:c.1432+948T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.279,0.002,1KG_SAS_AF,ALMS1
443187,2:73660370:C>T,NM_015120.4:c.1432+951C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.223,\N,\N,ALMS1
443188,2:73660379:A>G,NM_015120.4:c.1432+960A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.954,0.0008,1KG_AFR_AF,ALMS1
443189,2:73660396:C>T,NM_015120.4:c.1432+977C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.467,\N,\N,ALMS1
443190,2:73660416:G>A,NM_015120.4:c.1432+997G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.542,0.001,1KG_EAS_AF,ALMS1
443191,2:73660453:CAAAG>C,NM_015120.4:c.1432+1036_1432+1039del,\N,\N,7/22,Benign,\N,intron_variant,11.02,0.0218,1KG_EAS_AF,ALMS1
443192,2:73660491:A>G,NM_015120.4:c.1432+1072A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,7.277,0.001,1KG_SAS_AF,ALMS1
443193,2:73660566:G>A,NM_015120.4:c.1432+1147G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,8.282,\N,\N,ALMS1
443194,2:73660597:G>A,NM_015120.4:c.1432+1178G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.611,0.0008,1KG_AFR_AF,ALMS1
443195,2:73660639:A>G,NM_015120.4:c.1432+1220A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,10.89,0.001,1KG_SAS_AF,ALMS1
443196,2:73660701:T>C,NM_015120.4:c.1432+1282T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,11.83,0.0015,1KG_AFR_AF,ALMS1
443197,2:73660709:G>T,NM_015120.4:c.1432+1290G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,8.777,0.0008,1KG_AFR_AF,ALMS1
443198,2:73660717:A>G,NM_015120.4:c.1432+1298A>G,\N,\N,7/22,Benign,\N,intron_variant,2.54,0.0238,1KG_EAS_AF,ALMS1
443199,2:73660730:A>T,NM_015120.4:c.1432+1311A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.278,0.0014,1KG_AMR_AF,ALMS1
443200,2:73660736:T>C,NM_015120.4:c.1432+1317T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.893,0.001,1KG_EUR_AF,ALMS1
443201,2:73660767:A>T,NM_015120.4:c.1432+1348A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.085,0.001,1KG_SAS_AF,ALMS1
443202,2:73660791:G>T,NM_015120.4:c.1432+1372G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.268,0.001,1KG_EAS_AF,ALMS1
443203,2:73660804:C>G,NM_015120.4:c.1432+1385C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.201,\N,\N,ALMS1
443204,2:73660824:A>G,NM_015120.4:c.1432+1405A>G,\N,\N,7/22,Benign,\N,intron_variant,4.548,0.0166,1KG_AFR_AF,ALMS1
443205,2:73660846:T>C,NM_015120.4:c.1432+1427T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,5.966,0.001,1KG_SAS_AF,ALMS1
443206,2:73660867:C>T,NM_015120.4:c.1432+1448C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,8.289,0.0008,1KG_AFR_AF,ALMS1
443207,2:73660872:C>T,NM_015120.4:c.1432+1453C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,8.774,0.0041,1KG_SAS_AF,ALMS1
443208,2:73660887:A>G,NM_015120.4:c.1432+1468A>G,\N,\N,7/22,Benign,\N,intron_variant,9.501,0.0348,1KG_AFR_AF,ALMS1
443209,2:73660888:GT>G,NM_015120.4:c.1432+1474del,\N,\N,7/22,Benign,\N,intron_variant,9.81,0.0143,1KG_SAS_AF,ALMS1
443210,2:73660900:C>T,NM_015120.4:c.1432+1481C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,9.559,0.001,1KG_EUR_AF,ALMS1
443211,2:73660912:C>T,NM_015120.4:c.1432+1493C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,12.47,0.0041,1KG_SAS_AF,ALMS1
443212,2:73660921:C>A,NM_015120.4:c.1432+1502C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,13.54,\N,\N,ALMS1
443213,2:73660926:A>T,NM_015120.4:c.1432+1507A>T,\N,\N,7/22,Benign,\N,intron_variant,12.76,0.0457,1KG_EUR_AF,ALMS1
443214,2:73660958:A>G,NM_015120.4:c.1432+1539A>G,\N,\N,7/22,Benign,\N,intron_variant,13.48,0.008,1KG_EUR_AF,ALMS1
443215,2:73661002:A>G,NM_015120.4:c.1432+1583A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.295,\N,\N,ALMS1
443216,2:73661004:G>A,NM_015120.4:c.1432+1585G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.87,0.0015,1KG_AFR_AF,ALMS1
443217,2:73661019:A>G,NM_015120.4:c.1432+1600A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.505,0.001,1KG_EAS_AF,ALMS1
443218,2:73661039:C>T,NM_015120.4:c.1432+1620C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.333,\N,\N,ALMS1
443219,2:73661043:T>C,NM_015120.4:c.1432+1624T>C,\N,\N,7/22,Benign,\N,intron_variant,1.534,0.0726,1KG_AFR_AF,ALMS1
443220,2:73661080:C>T,NM_015120.4:c.1432+1661C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,9.854,0.0041,1KG_SAS_AF,ALMS1
443221,2:73661107:T>C,NM_015120.4:c.1432+1688T>C,\N,\N,7/22,Benign,\N,intron_variant,10.45,0.1383,1KG_AMR_AF,ALMS1
443222,2:73661158:T>G,NM_015120.4:c.1432+1739T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,15.49,0.001,1KG_EAS_AF,ALMS1
443223,2:73661161:A>G,NM_015120.4:c.1432+1742A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,14.69,0.0008,1KG_AFR_AF,ALMS1
443224,2:73661188:GTTTC>G,NM_015120.4:c.1432+1773_1432+1776del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443225,2:73661191:T>C,NM_015120.4:c.1432+1772T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,8.259,0.0045,1KG_AFR_AF,ALMS1
443226,2:73661224:C>G,NM_015120.4:c.1432+1805C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.459,\N,\N,ALMS1
443227,2:73661236:T>C,NM_015120.4:c.1432+1817T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,8.665,\N,\N,ALMS1
443228,2:73661294:T>C,NM_015120.4:c.1432+1875T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.477,\N,\N,ALMS1
443229,2:73661345:C>T,NM_015120.4:c.1432+1926C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.766,0.0008,1KG_AFR_AF,ALMS1
443230,2:73661348:TTTC>T,NM_015120.4:c.1432+1938_1432+1940del,\N,\N,7/22,Benign,\N,intron_variant,3.987,0.006,1KG_EAS_AF,ALMS1
443231,2:73661357:C>A,NM_015120.4:c.1432+1938C>A,\N,\N,7/22,Benign,\N,intron_variant,3.028,0.2549,1KG_AFR_AF,ALMS1
443232,2:73661379:A>G,NM_015120.4:c.1432+1960A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.021,0.0015,1KG_AFR_AF,ALMS1
443233,2:73661410:C>A,NM_015120.4:c.1432+1991C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.763,\N,\N,ALMS1
443234,2:73661436:T>A,NM_015120.4:c.1432+2017T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,8.385,\N,\N,ALMS1
443235,2:73661455:A>G,NM_015120.4:c.1432+2036A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,11.21,\N,\N,ALMS1
443236,2:73661506:A>ATT,NM_015120.4:c.1432+2089_1432+2090dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443237,2:73661543:T>C,NM_015120.4:c.1432+2124T>C,\N,\N,7/22,Benign,\N,intron_variant,4.71,0.0106,1KG_AFR_AF,ALMS1
443238,2:73661601:G>A,NM_015120.4:c.1432+2182G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,11.25,0.0015,1KG_AFR_AF,ALMS1
443239,2:73661615:C>T,NM_015120.4:c.1432+2196C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.378,0.0008,1KG_AFR_AF,ALMS1
443240,2:73661630:C>T,NM_015120.4:c.1432+2211C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,6.937,0.0029,1KG_AMR_AF,ALMS1
443241,2:73661632:TGTA>T,NM_015120.4:c.1432+2216_1432+2218del,\N,\N,7/22,Unknown significance,\N,intron_variant,9.242,\N,\N,ALMS1
443242,2:73661688:G>T,NM_015120.4:c.1432+2269G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,13.38,0.0008,1KG_AFR_AF,ALMS1
443243,2:73661702:T>C,NM_015120.4:c.1432+2283T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,13.55,0.001,1KG_EUR_AF,ALMS1
443244,2:73661730:G>A,NM_015120.4:c.1432+2311G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.638,\N,\N,ALMS1
443245,2:73661738:C>T,NM_015120.4:c.1432+2319C>T,\N,\N,7/22,Benign,\N,intron_variant,2.773,0.7907,1KG_EAS_AF,ALMS1
443246,2:73661787:C>G,NM_015120.4:c.1432+2368C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,9.081,\N,\N,ALMS1
443247,2:73661787:C>T,NM_015120.4:c.1432+2368C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,10.12,\N,\N,ALMS1
443248,2:73661804:G>C,NM_015120.4:c.1432+2385G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.999,0.0015,1KG_AFR_AF,ALMS1
443249,2:73661849:C>T,NM_015120.4:c.1432+2430C>T,\N,\N,7/22,Benign,\N,intron_variant,6.522,0.9438,1KG_AMR_AF,ALMS1
443250,2:73661860:C>A,NM_015120.4:c.1432+2441C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,8.241,0.0041,1KG_SAS_AF,ALMS1
443251,2:73661874:A>G,NM_015120.4:c.1432+2455A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.079,0.001,1KG_EAS_AF,ALMS1
443252,2:73661886:T>A,NM_015120.4:c.1432+2467T>A,\N,\N,7/22,Benign,\N,intron_variant,6.642,0.0499,1KG_AFR_AF,ALMS1
443253,2:73661893:T>C,NM_015120.4:c.1432+2474T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.085,0.001,1KG_SAS_AF,ALMS1
443254,2:73661907:G>A,NM_015120.4:c.1432+2488G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.31,\N,\N,ALMS1
443255,2:73661923:T>G,NM_015120.4:c.1432+2504T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,14.65,0.001,1KG_EUR_AF,ALMS1
443256,2:73661946:T>C,NM_015120.4:c.1432+2527T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,14.77,\N,\N,ALMS1
443257,2:73661950:G>T,NM_015120.4:c.1432+2531G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,14.15,\N,\N,ALMS1
443258,2:73661959:T>A,NM_015120.4:c.1432+2540T>A,\N,\N,7/22,Benign,\N,intron_variant,17.66,0.0666,1KG_AFR_AF,ALMS1
443259,2:73661986:C>G,NM_015120.4:c.1432+2567C>G,\N,\N,7/22,Benign,\N,intron_variant,7.259,0.4304,1KG_AFR_AF,ALMS1
443260,2:73661990:G>A,NM_015120.4:c.1432+2571G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.706,\N,\N,ALMS1
443261,2:73662028:G>A,NM_015120.4:c.1432+2609G>A,\N,\N,7/22,Benign,\N,intron_variant,0.239,0.0666,1KG_AFR_AF,ALMS1
443262,2:73662034:C>G,NM_015120.4:c.1432+2615C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.167,\N,\N,ALMS1
443263,2:73662035:G>A,NM_015120.4:c.1432+2616G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.222,\N,\N,ALMS1
443264,2:73662047:C>G,NM_015120.4:c.1432+2628C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.684,\N,\N,ALMS1
443265,2:73662064:A>G,NM_015120.4:c.1432+2645A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.429,0.0014,1KG_AMR_AF,ALMS1
443266,2:73662087:A>G,NM_015120.4:c.1432+2668A>G,\N,\N,7/22,Benign,\N,intron_variant,0.224,0.9438,1KG_AMR_AF,ALMS1
443267,2:73662120:A>G,NM_015120.4:c.1432+2701A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.781,0.0041,1KG_SAS_AF,ALMS1
443268,2:73662174:G>A,NM_015120.4:c.1432+2755G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,14.2,\N,\N,ALMS1
443269,2:73662180:A>G,NM_015120.4:c.1432+2761A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,13.93,\N,\N,ALMS1
443270,2:73662324:T>C,NM_015120.4:c.1432+2905T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.091,0.001,1KG_SAS_AF,ALMS1
443271,2:73662360:G>C,NM_015120.4:c.1432+2941G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,5.424,\N,\N,ALMS1
443272,2:73662412:C>T,NM_015120.4:c.1432+2993C>T,\N,\N,7/22,Benign,\N,intron_variant,7.302,0.0378,1KG_AFR_AF,ALMS1
443273,2:73662427:G>C,NM_015120.4:c.1432+3008G>C,\N,\N,7/22,Benign,\N,intron_variant,1.635,0.0446,1KG_AFR_AF,ALMS1
443274,2:73662435:T>C,NM_015120.4:c.1432+3016T>C,\N,\N,7/22,Benign,\N,intron_variant,3.289,0.0537,1KG_AFR_AF,ALMS1
443275,2:73662439:C>G,NM_015120.4:c.1432+3020C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.166,0.002,1KG_SAS_AF,ALMS1
443276,2:73662565:G>A,NM_015120.4:c.1432+3146G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.167,0.002,1KG_EAS_AF,ALMS1
443277,2:73662568:T>C,NM_015120.4:c.1432+3149T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.772,0.001,1KG_EUR_AF,ALMS1
443278,2:73662599:T>C,NM_015120.4:c.1432+3180T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,7.252,0.001,1KG_EUR_AF,ALMS1
443279,2:73662606:A>G,NM_015120.4:c.1432+3187A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.214,\N,\N,ALMS1
443280,2:73662634:A>G,NM_015120.4:c.1432+3215A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.138,\N,\N,ALMS1
443281,2:73662650:C>T,NM_015120.4:c.1432+3231C>T,\N,\N,7/22,Benign,\N,intron_variant,0.642,0.0726,1KG_AFR_AF,ALMS1
443282,2:73662668:C>CT,NM_015120.4:c.1432+3258dup,\N,\N,7/22,Benign,\N,intron_variant,7.651,0.7738,1KG_EAS_AF,ALMS1
443283,2:73662668:C>CTT,NM_015120.4:c.1432+3257_1432+3258dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443284,2:73662676:T>C,NM_015120.4:c.1432+3257T>C,\N,\N,7/22,Benign,\N,intron_variant,3.461,0.0234,1KG_AFR_AF,ALMS1
443285,2:73662678:G>T,NM_015120.4:c.1432+3259G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.32,\N,\N,ALMS1
443286,2:73662694:T>C,NM_015120.4:c.1432+3275T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.416,0.001,1KG_EUR_AF,ALMS1
443287,2:73662700:C>T,NM_015120.4:c.1432+3281C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.034,\N,\N,ALMS1
443288,2:73662750:T>G,NM_015120.4:c.1432+3331T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.221,\N,\N,ALMS1
443289,2:73662761:C>T,NM_015120.4:c.1432+3342C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,11.13,\N,\N,ALMS1
443290,2:73662772:A>G,NM_015120.4:c.1432+3353A>G,\N,\N,7/22,Benign,\N,intron_variant,13.6,0.008,1KG_EUR_AF,ALMS1
443291,2:73662806:C>G,NM_015120.4:c.1432+3387C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,13.23,0.001,1KG_SAS_AF,ALMS1
443292,2:73662826:C>G,NM_015120.4:c.1432+3407C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,10.58,\N,\N,ALMS1
443293,2:73662827:C>T,NM_015120.4:c.1432+3408C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,11.01,0.0043,1KG_AMR_AF,ALMS1
443294,2:73662850:G>T,NM_015120.4:c.1432+3431G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.487,0.001,1KG_EAS_AF,ALMS1
443295,2:73662880:G>T,NM_015120.4:c.1432+3461G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,4.603,\N,\N,ALMS1
443296,2:73662884:T>A,NM_015120.4:c.1432+3465T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.807,\N,\N,ALMS1
443297,2:73662886:A>G,NM_015120.4:c.1432+3467A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.211,0.0014,1KG_AMR_AF,ALMS1
443298,2:73662990:G>GT,NM_015120.4:c.1432+3571_1432+3572insT,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443299,2:73662997:C>T,NM_015120.4:c.1432+3578C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.32,0.0015,1KG_AFR_AF,ALMS1
443300,2:73662998:G>A,NM_015120.4:c.1432+3579G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.439,0.0008,1KG_AFR_AF,ALMS1
443301,2:73663006:CA>C,NM_015120.4:c.1432+3588del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443302,2:73663016:G>A,NM_015120.4:c.1432+3597G>A,\N,\N,7/22,Benign,\N,intron_variant,0.288,0.0726,1KG_AFR_AF,ALMS1
443303,2:73663029:A>G,NM_015120.4:c.1432+3610A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.864,0.0038,1KG_AFR_AF,ALMS1
443304,2:73663042:T>C,NM_015120.4:c.1432+3623T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.207,0.001,1KG_EAS_AF,ALMS1
443305,2:73663090:A>G,NM_015120.4:c.1432+3671A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.827,0.0014,1KG_AMR_AF,ALMS1
443306,2:73663096:C>T,NM_015120.4:c.1432+3677C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.839,0.0008,1KG_AFR_AF,ALMS1
443307,2:73663119:CTATT>C,NM_015120.4:c.1432+3702_1432+3705del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443308,2:73663150:A>C,NM_015120.4:c.1432+3731A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,10.79,\N,\N,ALMS1
443309,2:73663152:C>G,NM_015120.4:c.1432+3733C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,11.05,\N,\N,ALMS1
443310,2:73663205:A>G,NM_015120.4:c.1432+3786A>G,\N,\N,7/22,Benign,\N,intron_variant,7.126,0.9931,1KG_EAS_AF,ALMS1
443311,2:73663266:A>C,NM_015120.4:c.1432+3847A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.324,\N,\N,ALMS1
443312,2:73663283:G>C,NM_015120.4:c.1432+3864G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,5.28,0.0041,1KG_SAS_AF,ALMS1
443313,2:73663292:G>A,NM_015120.4:c.1432+3873G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,10.67,0.001,1KG_EAS_AF,ALMS1
443314,2:73663341:C>T,NM_015120.4:c.1432+3922C>T,\N,\N,7/22,Benign,\N,intron_variant,9.375,0.0371,1KG_AFR_AF,ALMS1
443315,2:73663360:T>G,NM_015120.4:c.1432+3941T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.055,0.0015,1KG_AFR_AF,ALMS1
443316,2:73663384:T>C,NM_015120.4:c.1432+3965T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.638,\N,\N,ALMS1
443317,2:73663415:C>G,NM_015120.4:c.1432+3996C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.887,\N,\N,ALMS1
443318,2:73663435:T>C,NM_015120.4:c.1432+4016T>C,\N,\N,7/22,Benign,\N,intron_variant,1.053,0.9438,1KG_AMR_AF,ALMS1
443319,2:73663470:GATATGTCTCT>G,NM_015120.4:c.1432+4054_1432+4063del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443320,2:73663481:A>C,NM_015120.4:c.1432+4062A>C,\N,\N,7/22,Benign,\N,intron_variant,0.435,0.9438,1KG_AMR_AF,ALMS1
443321,2:73663483:G>C,NM_015120.4:c.1432+4064G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.28,0.001,1KG_SAS_AF,ALMS1
443322,2:73663540:A>G,NM_015120.4:c.1432+4121A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,11.79,0.0014,1KG_AMR_AF,ALMS1
443323,2:73663543:T>C,NM_015120.4:c.1432+4124T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,10.15,0.0014,1KG_AMR_AF,ALMS1
443324,2:73663612:T>C,NM_015120.4:c.1432+4193T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.991,\N,\N,ALMS1
443325,2:73663625:A>G,NM_015120.4:c.1432+4206A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.189,\N,\N,ALMS1
443326,2:73663653:A>G,NM_015120.4:c.1432+4234A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.247,\N,\N,ALMS1
443327,2:73663682:T>A,NM_015120.4:c.1432+4263T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.896,0.001,1KG_EUR_AF,ALMS1
443328,2:73663737:A>C,NM_015120.4:c.1432+4318A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.811,0.0008,1KG_AFR_AF,ALMS1
443329,2:73663768:T>C,NM_015120.4:c.1432+4349T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,7.003,\N,\N,ALMS1
443330,2:73663814:C>A,NM_015120.4:c.1432+4395C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,13.72,0.001,1KG_EAS_AF,ALMS1
443331,2:73663830:C>T,NM_015120.4:c.1432+4411C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,12.72,0.0008,1KG_AFR_AF,ALMS1
443332,2:73663834:T>A,NM_015120.4:c.1432+4415T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,13.98,\N,\N,ALMS1
443333,2:73663836:A>G,NM_015120.4:c.1432+4417A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,12.29,0.001,1KG_EUR_AF,ALMS1
443334,2:73663837:G>A,NM_015120.4:c.1432+4418G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,12.19,\N,\N,ALMS1
443335,2:73663856:G>C,NM_015120.4:c.1432+4437G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,6.285,\N,\N,ALMS1
443336,2:73663997:G>A,NM_015120.4:c.1432+4578G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.74,\N,\N,ALMS1
443337,2:73664027:A>G,NM_015120.4:c.1432+4608A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.116,0.001,1KG_EUR_AF,ALMS1
443338,2:73664039:C>T,NM_015120.4:c.1432+4620C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,4.257,\N,\N,ALMS1
443339,2:73664046:G>C,NM_015120.4:c.1432+4627G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.991,\N,\N,ALMS1
443340,2:73664049:G>A,NM_015120.4:c.1432+4630G>A,\N,\N,7/22,Benign,\N,intron_variant,3.063,0.0068,1KG_AFR_AF,ALMS1
443341,2:73664053:C>A,NM_015120.4:c.1432+4634C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.058,0.0008,1KG_AFR_AF,ALMS1
443342,2:73664071:T>C,NM_015120.4:c.1432+4652T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.952,0.0045,1KG_AFR_AF,ALMS1
443343,2:73664074:C>A,NM_015120.4:c.1432+4655C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.526,\N,\N,ALMS1
443344,2:73664122:C>A,NM_015120.4:c.1432+4703C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.761,\N,\N,ALMS1
443345,2:73664128:T>G,NM_015120.4:c.1432+4709T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.283,\N,\N,ALMS1
443346,2:73664159:G>A,NM_015120.4:c.1432+4740G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.938,\N,\N,ALMS1
443347,2:73664166:A>G,NM_015120.4:c.1432+4747A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,7.939,\N,\N,ALMS1
443348,2:73664179:C>T,NM_015120.4:c.1432+4760C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,4.606,0.002,1KG_SAS_AF,ALMS1
443349,2:73664187:A>C,NM_015120.4:c.1432+4768A>C,\N,\N,7/22,Benign,\N,intron_variant,5.387,0.0149,1KG_EAS_AF,ALMS1
443350,2:73664199:G>T,NM_015120.4:c.1432+4780G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,7.479,\N,\N,ALMS1
443351,2:73664222:A>G,NM_015120.4:c.1432+4803A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.246,0.0008,1KG_AFR_AF,ALMS1
443352,2:73664230:C>G,NM_015120.4:c.1432+4811C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.684,0.0008,1KG_AFR_AF,ALMS1
443353,2:73664235:T>C,NM_015120.4:c.1432+4816T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.049,0.002,1KG_EUR_AF,ALMS1
443354,2:73664254:T>G,NM_015120.4:c.1432+4835T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.213,\N,\N,ALMS1
443355,2:73664258:C>CTT,NM_015120.4:c.1432+4840_1432+4841dup,\N,\N,7/22,Unknown significance,\N,intron_variant,6.839,0.003,1KG_EUR_AF,ALMS1
443356,2:73664297:C>G,NM_015120.4:c.1432+4878C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.289,0.0014,1KG_AMR_AF,ALMS1
443357,2:73664297:C>T,NM_015120.4:c.1432+4878C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.79,\N,\N,ALMS1
443358,2:73664330:T>C,NM_015120.4:c.1432+4911T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.858,\N,\N,ALMS1
443359,2:73664342:G>T,NM_015120.4:c.1432+4923G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.354,\N,\N,ALMS1
443360,2:73664343:C>T,NM_015120.4:c.1432+4924C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.125,0.0008,1KG_AFR_AF,ALMS1
443361,2:73664409:A>G,NM_015120.4:c.1432+4990A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.179,0.0008,1KG_AFR_AF,ALMS1
443362,2:73664418:C>G,NM_015120.4:c.1432+4999C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.066,\N,\N,ALMS1
443363,2:73664446:G>A,NM_015120.4:c.1432+5027G>A,\N,\N,7/22,Benign,\N,intron_variant,1.543,0.0061,1KG_AFR_AF,ALMS1
443364,2:73664484:G>A,NM_015120.4:c.1432+5065G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.045,0.0008,1KG_AFR_AF,ALMS1
443365,2:73664507:C>G,NM_015120.4:c.1432+5088C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.872,0.002,1KG_EAS_AF,ALMS1
443366,2:73664529:G>A,NM_015120.4:c.1432+5110G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.516,0.0008,1KG_AFR_AF,ALMS1
443367,2:73664532:T>C,NM_015120.4:c.1432+5113T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.873,0.001,1KG_EAS_AF,ALMS1
443368,2:73664557:A>T,NM_015120.4:c.1432+5138A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.8,0.001,1KG_EAS_AF,ALMS1
443369,2:73664558:T>A,NM_015120.4:c.1432+5139T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.761,0.001,1KG_EUR_AF,ALMS1
443370,2:73664573:A>G,NM_015120.4:c.1432+5154A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.385,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
443371,2:73664579:G>A,NM_015120.4:c.1432+5160G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.794,\N,\N,ALMS1
443372,2:73664604:T>C,NM_015120.4:c.1432+5185T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.335,0.001,1KG_SAS_AF,ALMS1
443373,2:73664634:T>A,NM_015120.4:c.1432+5215T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.574,0.0014,1KG_AMR_AF,ALMS1
443374,2:73664640:C>G,NM_015120.4:c.1432+5221C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.489,0.003,1KG_EUR_AF,ALMS1
443375,2:73664642:A>G,NM_015120.4:c.1432+5223A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.28,0.001,1KG_EAS_AF,ALMS1
443376,2:73664648:A>G,NM_015120.4:c.1432+5229A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.945,\N,\N,ALMS1
443377,2:73664676:A>T,NM_015120.4:c.1432+5257A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.455,0.001,1KG_SAS_AF,ALMS1
443378,2:73664714:C>T,NM_015120.4:c.1432+5295C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.021,\N,\N,ALMS1
443379,2:73664715:G>A,NM_015120.4:c.1432+5296G>A,\N,\N,7/22,Benign,\N,intron_variant,1.714,0.8555,1KG_AFR_AF,ALMS1
443380,2:73664721:A>C,NM_015120.4:c.1432+5302A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.589,0.001,1KG_EUR_AF,ALMS1
443381,2:73664722:C>T,NM_015120.4:c.1432+5303C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.198,0.002,1KG_EUR_AF,ALMS1
443382,2:73664726:T>A,NM_015120.4:c.1432+5307T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.511,0.0014,1KG_AMR_AF,ALMS1
443383,2:73664750:T>C,NM_015120.4:c.1432+5331T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,14.75,\N,\N,ALMS1
443384,2:73664765:G>T,NM_015120.4:c.1432+5346G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,7.56,\N,\N,ALMS1
443385,2:73664804:C>G,NM_015120.4:c.1432+5385C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.683,0.0008,1KG_AFR_AF,ALMS1
443386,2:73664808:T>C,NM_015120.4:c.1432+5389T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.407,\N,\N,ALMS1
443387,2:73664820:G>C,NM_015120.4:c.1432+5401G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.084,\N,\N,ALMS1
443388,2:73664828:CTGTA>C,NM_015120.4:c.1432+5412_1432+5415del,\N,\N,7/22,Unknown significance,\N,intron_variant,6.25,0.0031,1KG_SAS_AF,ALMS1
443389,2:73664862:C>T,NM_015120.4:c.1432+5443C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.746,\N,\N,ALMS1
443390,2:73664885:C>T,NM_015120.4:c.1432+5466C>T,\N,\N,7/22,Benign,\N,intron_variant,0.259,0.1354,1KG_AMR_AF,ALMS1
443391,2:73664886:G>A,NM_015120.4:c.1432+5467G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.841,\N,\N,ALMS1
443392,2:73664913:T>C,NM_015120.4:c.1432+5494T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,14.7,0.0008,1KG_AFR_AF,ALMS1
443393,2:73664954:C>G,NM_015120.4:c.1432+5535C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.01,\N,\N,ALMS1
443394,2:73664973:A>G,NM_015120.4:c.1432+5554A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.178,0.0015,1KG_AFR_AF,ALMS1
443395,2:73664978:C>T,NM_015120.4:c.1432+5559C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.956,0.0014,1KG_AMR_AF,ALMS1
443396,2:73664979:G>A,NM_015120.4:c.1432+5560G>A,\N,\N,7/22,Benign,\N,intron_variant,0.552,0.1063,1KG_SAS_AF,ALMS1
443397,2:73665001:G>A,NM_015120.4:c.1432+5582G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.595,0.0008,1KG_AFR_AF,ALMS1
443398,2:73665029:C>G,NM_015120.4:c.1432+5610C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.436,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ALMS1
443399,2:73665034:C>G,NM_015120.4:c.1432+5615C>G,\N,\N,7/22,Benign,\N,intron_variant,3.652,0.0072,1KG_SAS_AF,ALMS1
443400,2:73665046:T>C,NM_015120.4:c.1432+5627T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,5.241,\N,\N,ALMS1
443401,2:73665051:C>G,NM_015120.4:c.1432+5632C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.293,\N,\N,ALMS1
443402,2:73665065:C>T,NM_015120.4:c.1432+5646C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.357,\N,\N,ALMS1
443403,2:73665078:T>TA,NM_015120.4:c.1432+5667dup,\N,\N,7/22,Benign,\N,intron_variant,1.112,0.005,1KG_EAS_AF,ALMS1
443404,2:73665126:G>T,NM_015120.4:c.1432+5707G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.472,\N,\N,ALMS1
443405,2:73665139:C>T,NM_015120.4:c.1432+5720C>T,\N,\N,7/22,Benign,\N,intron_variant,1.03,0.0212,1KG_AFR_AF,ALMS1
443406,2:73665140:G>A,NM_015120.4:c.1432+5721G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.698,\N,\N,ALMS1
443407,2:73665187:C>T,NM_015120.4:c.1432+5768C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.779,\N,\N,ALMS1
443408,2:73665211:A>T,NM_015120.4:c.1432+5792A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,11.45,0.0014,1KG_AMR_AF,ALMS1
443409,2:73665265:A>T,NM_015120.4:c.1432+5846A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.559,0.001,1KG_EUR_AF,ALMS1
443410,2:73665281:T>A,NM_015120.4:c.1432+5862T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.332,0.001,1KG_EAS_AF,ALMS1
443411,2:73665284:C>G,NM_015120.4:c.1432+5865C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.688,\N,\N,ALMS1
443412,2:73665293:C>G,NM_015120.4:c.1432+5874C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.057,0.001,1KG_EAS_AF,ALMS1
443413,2:73665296:TAG>T,NM_015120.4:c.1432+5878_1432+5879del,\N,\N,7/22,Benign,\N,intron_variant,6.348,0.0076,1KG_AFR_AF,ALMS1
443414,2:73665311:G>A,NM_015120.4:c.1432+5892G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.07,0.001,1KG_EUR_AF,ALMS1
443415,2:73665336:A>G,NM_015120.4:c.1432+5917A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.767,0.002,1KG_SAS_AF,ALMS1
443416,2:73665352:G>A,NM_015120.4:c.1432+5933G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.038,0.001,1KG_EUR_AF,ALMS1
443417,2:73665354:A>G,NM_015120.4:c.1432+5935A>G,\N,\N,7/22,Benign,\N,intron_variant,3.72,0.005,1KG_EUR_AF,ALMS1
443418,2:73665362:G>C,NM_015120.4:c.1432+5943G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.662,0.0015,1KG_AFR_AF,ALMS1
443419,2:73665374:T>C,NM_015120.4:c.1432+5955T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,7.093,0.001,1KG_EAS_AF,ALMS1
443420,2:73665380:G>T,NM_015120.4:c.1432+5961G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,7.564,\N,\N,ALMS1
443421,2:73665417:G>T,NM_015120.4:c.1432+5998G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.044,\N,\N,ALMS1
443422,2:73665422:A>AT,NM_015120.4:c.1432+6007dup,\N,\N,7/22,Benign,\N,intron_variant,0.214,0.0051,1KG_SAS_AF,ALMS1
443423,2:73665435:CA>C,NM_015120.4:c.1432+6017del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443424,2:73665448:C>A,NM_015120.4:c.1432+6029C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.308,\N,\N,ALMS1
443425,2:73665468:G>T,NM_015120.4:c.1432+6049G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.348,0.001,1KG_SAS_AF,ALMS1
443426,2:73665494:T>C,NM_015120.4:c.1432+6075T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.942,\N,\N,ALMS1
443427,2:73665561:A>C,NM_015120.4:c.1432+6142A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.386,\N,\N,ALMS1
443428,2:73665565:G>A,NM_015120.4:c.1432+6146G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.895,0.003,1KG_EAS_AF,ALMS1
443429,2:73665592:T>A,NM_015120.4:c.1432+6173T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,9.782,0.003,1KG_EAS_AF,ALMS1
443430,2:73665594:G>A,NM_015120.4:c.1432+6175G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.774,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
443431,2:73665616:G>A,NM_015120.4:c.1432+6197G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.998,0.003,1KG_EUR_AF,ALMS1
443432,2:73665624:T>C,NM_015120.4:c.1432+6205T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,8.033,0.001,1KG_EUR_AF,ALMS1
443433,2:73665637:A>G,NM_015120.4:c.1432+6218A>G,\N,\N,7/22,Benign,\N,intron_variant,6.708,0.0499,1KG_AFR_AF,ALMS1
443434,2:73665640:C>T,NM_015120.4:c.1432+6221C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,11.08,\N,\N,ALMS1
443435,2:73665655:C>T,NM_015120.4:c.1432+6236C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,14.81,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
443436,2:73665656:G>A,NM_015120.4:c.1432+6237G>A,\N,\N,7/22,Benign,\N,intron_variant,14.56,0.857,1KG_AFR_AF,ALMS1
443437,2:73665700:A>G,NM_015120.4:c.1432+6281A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.593,\N,\N,ALMS1
443438,2:73665742:T>C,NM_015120.4:c.1432+6323T>C,\N,\N,7/22,Benign,\N,intron_variant,6.283,0.1369,1KG_AMR_AF,ALMS1
443439,2:73665748:T>G,NM_015120.4:c.1432+6329T>G,\N,\N,7/22,Benign,\N,intron_variant,10.18,0.0681,1KG_AFR_AF,ALMS1
443440,2:73665776:T>A,NM_015120.4:c.1432+6357T>A,\N,\N,7/22,Benign,\N,intron_variant,5.673,0.1282,1KG_AMR_AF,ALMS1
443441,2:73665777:T>A,NM_015120.4:c.1432+6358T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.52,\N,\N,ALMS1
443442,2:73665778:T>A,NM_015120.4:c.1432+6359T>A,\N,\N,7/22,Benign,\N,intron_variant,5.902,0.1282,1KG_AMR_AF,ALMS1
443443,2:73665779:C>A,NM_015120.4:c.1432+6360C>A,\N,\N,7/22,Benign,\N,intron_variant,3.117,0.1282,1KG_AMR_AF,ALMS1
443444,2:73665780:T>G,NM_015120.4:c.1432+6361T>G,\N,\N,7/22,Benign,\N,intron_variant,3.708,0.1282,1KG_AMR_AF,ALMS1
443445,2:73665780:TG>T,NM_015120.4:c.1432+6362del,\N,\N,7/22,Unknown significance,\N,intron_variant,3.658,\N,\N,ALMS1
443446,2:73665781:G>T,NM_015120.4:c.1432+6362G>T,\N,\N,7/22,Benign,\N,intron_variant,0.966,0.1282,1KG_AMR_AF,ALMS1
443447,2:73665817:G>T,NM_015120.4:c.1432+6398G>T,\N,\N,7/22,Benign,\N,intron_variant,1.309,0.0591,1KG_AMR_AF,ALMS1
443448,2:73665839:A>G,NM_015120.4:c.1432+6420A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.767,0.0029,1KG_AMR_AF,ALMS1
443449,2:73665845:G>C,NM_015120.4:c.1432+6426G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,5.094,\N,\N,ALMS1
443450,2:73665857:T>C,NM_015120.4:c.1432+6438T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.821,\N,\N,ALMS1
443451,2:73665862:A>G,NM_015120.4:c.1432+6443A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.911,\N,\N,ALMS1
443452,2:73665866:T>C,NM_015120.4:c.1432+6447T>C,\N,\N,7/22,Benign,\N,intron_variant,2.3,0.9438,1KG_AMR_AF,ALMS1
443453,2:73665866:T>TC,NM_015120.4:c.1432+6448dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443454,2:73665882:T>C,NM_015120.4:c.1432+6463T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.165,\N,\N,ALMS1
443455,2:73665897:T>C,NM_015120.4:c.1432+6478T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,6.712,0.001,1KG_EAS_AF,ALMS1
443456,2:73665936:A>G,NM_015120.4:c.1432+6517A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.1,0.001,1KG_EUR_AF,ALMS1
443457,2:73665972:G>T,NM_015120.4:c.1432+6553G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.324,\N,\N,ALMS1
443458,2:73665974:T>C,NM_015120.4:c.1432+6555T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.659,\N,\N,ALMS1
443459,2:73665978:C>T,NM_015120.4:c.1432+6559C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.677,0.001,1KG_EUR_AF,ALMS1
443460,2:73665979:G>A,NM_015120.4:c.1432+6560G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.317,\N,\N,ALMS1
443461,2:73665988:G>T,NM_015120.4:c.1432+6569G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.647,\N,\N,ALMS1
443462,2:73665995:T>G,NM_015120.4:c.1432+6576T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.23,\N,\N,ALMS1
443463,2:73666023:C>T,NM_015120.4:c.1432+6604C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.336,\N,\N,ALMS1
443464,2:73666041:C>A,NM_015120.4:c.1432+6622C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.921,\N,\N,ALMS1
443465,2:73666051:C>T,NM_015120.4:c.1432+6632C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.503,0.001,1KG_SAS_AF,ALMS1
443466,2:73666072:G>A,NM_015120.4:c.1432+6653G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.397,\N,\N,ALMS1
443467,2:73666083:A>T,NM_015120.4:c.1432+6664A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.188,\N,\N,ALMS1
443468,2:73666116:TTCTTCTTCC>T,NM_015120.4:c.1432+6710_1432+6718del,\N,\N,7/22,Benign,\N,intron_variant,1.277,0.6014,1KG_AFR_AF,ALMS1
443469,2:73666125:C>T,NM_015120.4:c.1432+6706C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.043,\N,\N,ALMS1
443470,2:73666127:C>A,NM_015120.4:c.1432+6708C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.599,0.001,1KG_EAS_AF,ALMS1
443471,2:73666128:T>C,NM_015120.4:c.1432+6709T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.06,0.001,1KG_EUR_AF,ALMS1
443472,2:73666129:T>A,NM_015120.4:c.1432+6710T>A,\N,\N,7/22,Benign,\N,intron_variant,2.513,0.0666,1KG_AFR_AF,ALMS1
443473,2:73666129:TCTTCCT>C,NM_015120.4:c.1432+6710_1432+6716delinsC,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443474,2:73666134:C>T,NM_015120.4:c.1432+6715C>T,\N,\N,7/22,Benign,\N,intron_variant,0.232,0.005,1KG_EUR_AF,ALMS1
443475,2:73666139:C>T,NM_015120.4:c.1432+6720C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.691,0.001,1KG_EAS_AF,ALMS1
443476,2:73666148:CT>C,NM_015120.4:c.1432+6736del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443477,2:73666149:TTTTTTTCTTC>T,NM_015120.4:c.1432+6743_1432+6752del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443478,2:73666187:C>T,NM_015120.4:c.1432+6768C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.581,\N,\N,ALMS1
443479,2:73666203:C>G,NM_015120.4:c.1432+6784C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.215,0.001,1KG_EUR_AF,ALMS1
443480,2:73666207:TTTC>T,NM_015120.4:c.1432+6794_1432+6796del,\N,\N,7/22,Unknown significance,\N,intron_variant,1.595,\N,\N,ALMS1
443481,2:73666217:CTTCT>C,NM_015120.4:c.1432+6805_1432+6808del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443482,2:73666244:C>CT,NM_015120.4:c.1432+6840dup,\N,\N,7/22,Benign,\N,intron_variant,0.223,0.7814,1KG_AFR_AF,ALMS1
443483,2:73666268:A>T,NM_015120.4:c.1432+6849A>T,\N,\N,7/22,Benign,\N,intron_variant,0.384,0.0371,1KG_AFR_AF,ALMS1
443484,2:73666286:G>C,NM_015120.4:c.1432+6867G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.576,\N,\N,ALMS1
443485,2:73666287:C>T,NM_015120.4:c.1432+6868C>T,\N,\N,7/22,Benign,\N,intron_variant,3.723,0.0129,1KG_AFR_AF,ALMS1
443486,2:73666308:A>G,NM_015120.4:c.1432+6889A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.128,\N,\N,ALMS1
443487,2:73666324:A>G,NM_015120.4:c.1432+6905A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.967,\N,\N,ALMS1
443488,2:73666358:C>T,NM_015120.4:c.1432+6939C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.104,\N,\N,ALMS1
443489,2:73666399:A>G,NM_015120.4:c.1432+6980A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.495,\N,\N,ALMS1
443490,2:73666402:C>T,NM_015120.4:c.1432+6983C>T,\N,\N,7/22,Benign,\N,intron_variant,4.289,0.789,1KG_AFR_AF,ALMS1
443491,2:73666403:C>A,NM_015120.4:c.1432+6984C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.137,0.001,1KG_EUR_AF,ALMS1
443492,2:73666449:C>T,NM_015120.4:c.1432+7030C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.473,0.001,1KG_EAS_AF,ALMS1
443493,2:73666469:C>T,NM_015120.4:c.1432+7050C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,7.22,\N,\N,ALMS1
443494,2:73666473:C>A,NM_015120.4:c.1432+7054C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.242,0.001,1KG_EUR_AF,ALMS1
443495,2:73666502:C>A,NM_015120.4:c.1432+7083C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.635,\N,\N,ALMS1
443496,2:73666509:A>G,NM_015120.4:c.1432+7090A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.341,0.001,1KG_SAS_AF,ALMS1
443497,2:73666517:A>C,NM_015120.4:c.1432+7098A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.044,0.002,1KG_SAS_AF,ALMS1
443498,2:73666543:C>T,NM_015120.4:c.1432+7124C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.062,\N,\N,ALMS1
443499,2:73666544:G>A,NM_015120.4:c.1432+7125G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.067,0.0015,1KG_AFR_AF,ALMS1
443500,2:73666556:T>C,NM_015120.4:c.1432+7137T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.287,\N,\N,ALMS1
443501,2:73666566:T>C,NM_015120.4:c.1432+7147T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.018,0.002,1KG_SAS_AF,ALMS1
443502,2:73666580:T>G,NM_015120.4:c.1432+7161T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.448,0.001,1KG_EAS_AF,ALMS1
443503,2:73666621:A>G,NM_015120.4:c.1432+7202A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.701,0.001,1KG_EAS_AF,ALMS1
443504,2:73666635:A>G,NM_015120.4:c.1432+7216A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.586,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ALMS1
443505,2:73666645:G>C,NM_015120.4:c.1432+7226G>C,\N,\N,7/22,Benign,\N,intron_variant,0.033,0.8775,1KG_AFR_AF,ALMS1
443506,2:73666666:A>T,NM_015120.4:c.1432+7247A>T,\N,\N,7/22,Benign,\N,intron_variant,2.68,0.0719,1KG_AFR_AF,ALMS1
443507,2:73666723:C>T,NM_015120.4:c.1432+7304C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.186,\N,\N,ALMS1
443508,2:73666723:CG>GA,NM_015120.4:c.1432+7304_1432+7305delinsGA,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443509,2:73666724:G>A,NM_015120.4:c.1432+7305G>A,\N,\N,7/22,Benign,\N,intron_variant,1.679,0.8563,1KG_AFR_AF,ALMS1
443510,2:73666727:G>A,NM_015120.4:c.1432+7308G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.057,0.0008,1KG_AFR_AF,ALMS1
443511,2:73666729:T>C,NM_015120.4:c.1432+7310T>C,\N,\N,7/22,Benign,\N,intron_variant,0.271,0.8767,1KG_AFR_AF,ALMS1
443512,2:73666752:T>TC,NM_015120.4:c.1432+7335dup,\N,\N,7/22,Benign,\N,intron_variant,\N,0.0092,1KG_SAS_AF,ALMS1
443513,2:73666761:C>T,NM_015120.4:c.1432+7342C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.103,0.0029,1KG_AMR_AF,ALMS1
443514,2:73666771:C>T,NM_015120.4:c.1432+7352C>T,\N,\N,7/22,Benign,\N,intron_variant,1.352,0.0061,1KG_AFR_AF,ALMS1
443515,2:73666817:C>A,NM_015120.4:c.1432+7398C>A,\N,\N,7/22,Benign,\N,intron_variant,1.862,0.0651,1KG_AFR_AF,ALMS1
443516,2:73666820:C>T,NM_015120.4:c.1432+7401C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.654,\N,\N,ALMS1
443517,2:73666843:A>AT,NM_015120.4:c.1432+7429dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443518,2:73666876:C>T,NM_015120.4:c.1432+7457C>T,\N,\N,7/22,Benign,\N,intron_variant,3.134,0.0199,1KG_EUR_AF,ALMS1
443519,2:73666890:A>G,NM_015120.4:c.1432+7471A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.324,0.002,1KG_EUR_AF,ALMS1
443520,2:73666913:C>T,NM_015120.4:c.1432+7494C>T,\N,\N,7/22,Benign,\N,intron_variant,1.98,0.0432,1KG_AMR_AF,ALMS1
443521,2:73666997:A>G,NM_015120.4:c.1432+7578A>G,\N,\N,7/22,Benign,\N,intron_variant,1.718,0.1297,1KG_AMR_AF,ALMS1
443522,2:73667000:C>T,NM_015120.4:c.1432+7581C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.796,\N,\N,ALMS1
443523,2:73667013:A>G,NM_015120.4:c.1432+7594A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.492,\N,\N,ALMS1
443524,2:73667046:C>G,NM_015120.4:c.1432+7627C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.588,\N,\N,ALMS1
443525,2:73667063:T>C,NM_015120.4:c.1432+7644T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.351,\N,\N,ALMS1
443526,2:73667064:A>G,NM_015120.4:c.1432+7645A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.609,0.001,1KG_SAS_AF,ALMS1
443527,2:73667106:A>T,NM_015120.4:c.1432+7687A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.919,0.0029,1KG_AMR_AF,ALMS1
443528,2:73667139:C>T,NM_015120.4:c.1432+7720C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.712,\N,\N,ALMS1
443529,2:73667140:G>A,NM_015120.4:c.1432+7721G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.232,0.001,1KG_SAS_AF,ALMS1
443530,2:73667147:C>T,NM_015120.4:c.1432+7728C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.934,0.0008,1KG_AFR_AF,ALMS1
443531,2:73667148:G>A,NM_015120.4:c.1432+7729G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.314,\N,\N,ALMS1
443532,2:73667185:T>G,NM_015120.4:c.1432+7766T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.285,0.0008,1KG_AFR_AF,ALMS1
443533,2:73667202:G>A,NM_015120.4:c.1432+7783G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.684,0.0015,1KG_AFR_AF,ALMS1
443534,2:73667242:G>C,NM_015120.4:c.1432+7823G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.28,0.0008,1KG_AFR_AF,ALMS1
443535,2:73667265:C>G,NM_015120.4:c.1433-7825C>G,\N,\N,7/22,Benign,\N,intron_variant,0.004,0.1311,1KG_AMR_AF,ALMS1
443536,2:73667265:C>T,NM_015120.4:c.1433-7825C>T,\N,\N,7/22,Benign,\N,intron_variant,0.008,0.0123,1KG_SAS_AF,ALMS1
443537,2:73667292:G>T,NM_015120.4:c.1433-7798G>T,\N,\N,7/22,Benign,\N,intron_variant,0.335,0.1326,1KG_AMR_AF,ALMS1
443538,2:73667309:C>T,NM_015120.4:c.1433-7781C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.429,\N,\N,ALMS1
443539,2:73667311:A>T,NM_015120.4:c.1433-7779A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.841,\N,\N,ALMS1
443540,2:73667330:C>T,NM_015120.4:c.1433-7760C>T,\N,\N,7/22,Benign,\N,intron_variant,0.141,0.0772,1KG_AFR_AF,ALMS1
443541,2:73667342:C>T,NM_015120.4:c.1433-7748C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.25,0.0014,1KG_AMR_AF,ALMS1
443542,2:73667374:G>T,NM_015120.4:c.1433-7716G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.58,\N,\N,ALMS1
443543,2:73667379:C>T,NM_015120.4:c.1433-7711C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.005,0.001,1KG_EAS_AF,ALMS1
443544,2:73667380:G>A,NM_015120.4:c.1433-7710G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.634,\N,\N,ALMS1
443545,2:73667406:C>T,NM_015120.4:c.1433-7684C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.436,\N,\N,ALMS1
443546,2:73667408:G>A,NM_015120.4:c.1433-7682G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2,0.0041,1KG_SAS_AF,ALMS1
443547,2:73667417:G>A,NM_015120.4:c.1433-7673G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.006,0.0008,1KG_AFR_AF,ALMS1
443548,2:73667430:G>A,NM_015120.4:c.1433-7660G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.752,0.003,1KG_EUR_AF,ALMS1
443549,2:73667550:C>T,NM_015120.4:c.1433-7540C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.292,\N,\N,ALMS1
443550,2:73667560:C>G,NM_015120.4:c.1433-7530C>G,\N,\N,7/22,Benign,\N,intron_variant,2.444,0.0245,1KG_AMR_AF,ALMS1
443551,2:73667569:G>A,NM_015120.4:c.1433-7521G>A,\N,\N,7/22,Benign,\N,intron_variant,1.463,0.0068,1KG_AFR_AF,ALMS1
443552,2:73667572:T>A,NM_015120.4:c.1433-7518T>A,\N,\N,7/22,Benign,\N,intron_variant,3.091,0.0635,1KG_AFR_AF,ALMS1
443553,2:73667575:G>A,NM_015120.4:c.1433-7515G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.27,0.0008,1KG_AFR_AF,ALMS1
443554,2:73667580:C>G,NM_015120.4:c.1433-7510C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.603,0.001,1KG_EUR_AF,ALMS1
443555,2:73667582:T>TTC,NM_015120.4:c.1433-7492_1433-7491dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443556,2:73667582:TTC>T,NM_015120.4:c.1433-7492_1433-7491del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443557,2:73667588:C>G,NM_015120.4:c.1433-7502C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.31,\N,\N,ALMS1
443558,2:73667596:C>A,NM_015120.4:c.1433-7494C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.196,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
443559,2:73667601:G>T,NM_015120.4:c.1433-7489G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.118,\N,\N,ALMS1
443560,2:73667610:TTCTC>T,NM_015120.4:c.1433-7473_1433-7470del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443561,2:73667644:G>C,NM_015120.4:c.1433-7446G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.009,\N,\N,ALMS1
443562,2:73667645:G>A,NM_015120.4:c.1433-7445G>A,\N,\N,7/22,Benign,\N,intron_variant,1.812,0.0219,1KG_AFR_AF,ALMS1
443563,2:73667682:G>C,NM_015120.4:c.1433-7408G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.207,0.001,1KG_EUR_AF,ALMS1
443564,2:73667696:C>T,NM_015120.4:c.1433-7394C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.281,0.0014,1KG_AMR_AF,ALMS1
443565,2:73667741:C>T,NM_015120.4:c.1433-7349C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.317,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
443566,2:73667767:G>T,NM_015120.4:c.1433-7323G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.688,0.0008,1KG_AFR_AF,ALMS1
443567,2:73667791:G>C,NM_015120.4:c.1433-7299G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.832,0.001,1KG_EAS_AF,ALMS1
443568,2:73667795:C>T,NM_015120.4:c.1433-7295C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,8.207,\N,\N,ALMS1
443569,2:73667832:C>T,NM_015120.4:c.1433-7258C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.35,0.0008,1KG_AFR_AF,ALMS1
443570,2:73667864:T>C,NM_015120.4:c.1433-7226T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.487,\N,\N,ALMS1
443571,2:73667892:A>G,NM_015120.4:c.1433-7198A>G,\N,\N,7/22,Benign,\N,intron_variant,1.689,0.0454,1KG_AFR_AF,ALMS1
443572,2:73667942:T>C,NM_015120.4:c.1433-7148T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,9.402,0.0008,1KG_AFR_AF,ALMS1
443573,2:73667967:A>G,NM_015120.4:c.1433-7123A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,10.44,0.001,1KG_EAS_AF,ALMS1
443574,2:73667986:G>A,NM_015120.4:c.1433-7104G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.919,0.0014,1KG_AMR_AF,ALMS1
443575,2:73668025:T>G,NM_015120.4:c.1433-7065T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.479,\N,\N,ALMS1
443576,2:73668037:G>T,NM_015120.4:c.1433-7053G>T,\N,\N,7/22,Benign,\N,intron_variant,3.77,0.1225,1KG_AMR_AF,ALMS1
443577,2:73668082:A>G,NM_015120.4:c.1433-7008A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.395,0.001,1KG_EAS_AF,ALMS1
443578,2:73668111:C>A,NM_015120.4:c.1433-6979C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.775,\N,\N,ALMS1
443579,2:73668129:C>T,NM_015120.4:c.1433-6961C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.771,0.0008,1KG_AFR_AF,ALMS1
443580,2:73668186:G>C,NM_015120.4:c.1433-6904G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.626,0.0023,1KG_AFR_AF,ALMS1
443581,2:73668199:A>G,NM_015120.4:c.1433-6891A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.827,0.001,1KG_SAS_AF,ALMS1
443582,2:73668228:C>G,NM_015120.4:c.1433-6862C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.635,\N,\N,ALMS1
443583,2:73668230:T>C,NM_015120.4:c.1433-6860T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.077,0.0014,1KG_AMR_AF,ALMS1
443584,2:73668252:T>A,NM_015120.4:c.1433-6838T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.814,0.0008,1KG_AFR_AF,ALMS1
443585,2:73668269:G>A,NM_015120.4:c.1433-6821G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.009,0.0008,1KG_AFR_AF,ALMS1
443586,2:73668284:G>A,NM_015120.4:c.1433-6806G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.176,\N,\N,ALMS1
443587,2:73668307:G>A,NM_015120.4:c.1433-6783G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,15.39,0.001,1KG_EUR_AF,ALMS1
443588,2:73668314:G>A,NM_015120.4:c.1433-6776G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,14.95,\N,\N,ALMS1
443589,2:73668376:G>A,NM_015120.4:c.1433-6714G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,6.655,\N,\N,ALMS1
443590,2:73668416:C>T,NM_015120.4:c.1433-6674C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.828,0.0008,1KG_AFR_AF,ALMS1
443591,2:73668450:C>G,NM_015120.4:c.1433-6640C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.661,\N,\N,ALMS1
443592,2:73668463:C>T,NM_015120.4:c.1433-6627C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,5.413,\N,\N,ALMS1
443593,2:73668475:G>T,NM_015120.4:c.1433-6615G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,8.547,\N,\N,ALMS1
443594,2:73668550:C>T,NM_015120.4:c.1433-6540C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.285,\N,\N,ALMS1
443595,2:73668616:G>A,NM_015120.4:c.1433-6474G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.711,0.001,1KG_SAS_AF,ALMS1
443596,2:73668669:C>G,NM_015120.4:c.1433-6421C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.391,\N,\N,ALMS1
443597,2:73668672:T>C,NM_015120.4:c.1433-6418T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.652,0.001,1KG_EAS_AF,ALMS1
443598,2:73668723:C>G,NM_015120.4:c.1433-6367C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.037,0.0008,1KG_AFR_AF,ALMS1
443599,2:73668738:A>ACTATTC,NM_015120.4:c.1433-6334_1433-6329dup,\N,\N,7/22,Benign,\N,intron_variant,0.511,0.177,1KG_AFR_AF,ALMS1
443600,2:73668738:A>ACTATTCCTATTC,NM_015120.4:c.1433-6340_1433-6329dup,\N,\N,7/22,Benign,\N,intron_variant,0.296,0.528,1KG_AFR_AF,ALMS1
443601,2:73668738:A>ACTATTCCTATTCCTATTC,NM_015120.4:c.1433-6346_1433-6329dup,\N,\N,7/22,Benign,\N,intron_variant,0.171,0.0726,1KG_AFR_AF,ALMS1
443602,2:73668750:C>CCCTATTCCTATT,NM_015120.4:c.1433-6339_1433-6338insCTATTCCTATTC,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443603,2:73668762:T>C,NM_015120.4:c.1433-6328T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.801,\N,\N,ALMS1
443604,2:73668768:C>T,NM_015120.4:c.1433-6322C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.92,0.0023,1KG_AFR_AF,ALMS1
443605,2:73668777:A>G,NM_015120.4:c.1433-6313A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.329,\N,\N,ALMS1
443606,2:73668783:C>T,NM_015120.4:c.1433-6307C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.254,\N,\N,ALMS1
443607,2:73668817:G>C,NM_015120.4:c.1433-6273G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.015,0.003,1KG_AFR_AF,ALMS1
443608,2:73668818:A>G,NM_015120.4:c.1433-6272A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.174,0.001,1KG_EUR_AF,ALMS1
443609,2:73668846:G>A,NM_015120.4:c.1433-6244G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.584,0.002,1KG_EAS_AF,ALMS1
443610,2:73668863:T>G,NM_015120.4:c.1433-6227T>G,\N,\N,7/22,Benign,\N,intron_variant,3.396,0.0234,1KG_AFR_AF,ALMS1
443611,2:73668907:G>GT,NM_015120.4:c.1433-6173dup,\N,\N,7/22,Benign,\N,intron_variant,3.69,0.1744,1KG_AMR_AF,ALMS1
443612,2:73668910:T>C,NM_015120.4:c.1433-6180T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.958,0.0014,1KG_AMR_AF,ALMS1
443613,2:73668939:T>A,NM_015120.4:c.1433-6151T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.116,0.001,1KG_EUR_AF,ALMS1
443614,2:73668980:A>G,NM_015120.4:c.1433-6110A>G,\N,\N,7/22,Benign,\N,intron_variant,2.696,0.0109,1KG_EAS_AF,ALMS1
443615,2:73669012:A>G,NM_015120.4:c.1433-6078A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.744,0.001,1KG_EAS_AF,ALMS1
443616,2:73669019:A>G,NM_015120.4:c.1433-6071A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.177,0.0008,1KG_AFR_AF,ALMS1
443617,2:73669045:A>G,NM_015120.4:c.1433-6045A>G,\N,\N,7/22,Benign,\N,intron_variant,4.299,0.0068,1KG_AFR_AF,ALMS1
443618,2:73669063:G>A,NM_015120.4:c.1433-6027G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.683,0.0014,1KG_AMR_AF,ALMS1
443619,2:73669064:G>A,NM_015120.4:c.1433-6026G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.929,\N,\N,ALMS1
443620,2:73669072:C>A,NM_015120.4:c.1433-6018C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,9.975,\N,\N,ALMS1
443621,2:73669098:C>T,NM_015120.4:c.1433-5992C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,15.7,\N,\N,ALMS1
443622,2:73669135:C>A,NM_015120.4:c.1433-5955C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.649,0.0008,1KG_AFR_AF,ALMS1
443623,2:73669150:A>G,NM_015120.4:c.1433-5940A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.565,0.001,1KG_SAS_AF,ALMS1
443624,2:73669155:T>C,NM_015120.4:c.1433-5935T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.504,\N,\N,ALMS1
443625,2:73669172:C>T,NM_015120.4:c.1433-5918C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.862,0.0008,1KG_AFR_AF,ALMS1
443626,2:73669186:T>C,NM_015120.4:c.1433-5904T>C,\N,\N,7/22,Benign,\N,intron_variant,1.618,0.7937,1KG_EAS_AF,ALMS1
443627,2:73669208:G>A,NM_015120.4:c.1433-5882G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,9.477,0.0038,1KG_AFR_AF,ALMS1
443628,2:73669209:C>T,NM_015120.4:c.1433-5881C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,10.07,\N,\N,ALMS1
443629,2:73669235:G>A,NM_015120.4:c.1433-5855G>A,\N,\N,7/22,Benign,\N,intron_variant,1.029,0.4216,1KG_EAS_AF,ALMS1
443630,2:73669256:T>C,NM_015120.4:c.1433-5834T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.477,\N,\N,ALMS1
443631,2:73669262:A>G,NM_015120.4:c.1433-5828A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.304,\N,\N,ALMS1
443632,2:73669288:A>G,NM_015120.4:c.1433-5802A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.587,\N,\N,ALMS1
443633,2:73669367:G>A,NM_015120.4:c.1433-5723G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.579,0.0023,1KG_AFR_AF,ALMS1
443634,2:73669398:A>G,NM_015120.4:c.1433-5692A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.472,\N,\N,ALMS1
443635,2:73669417:A>G,NM_015120.4:c.1433-5673A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.705,\N,\N,ALMS1
443636,2:73669430:T>TA,NM_015120.4:c.1433-5659dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,0.0015,1KG_AFR_AF,ALMS1
443637,2:73669462:C>T,NM_015120.4:c.1433-5628C>T,\N,\N,7/22,Benign,\N,intron_variant,0.5,0.7847,1KG_EAS_AF,ALMS1
443638,2:73669466:G>C,NM_015120.4:c.1433-5624G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.26,0.002,1KG_SAS_AF,ALMS1
443639,2:73669467:A>G,NM_015120.4:c.1433-5623A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.257,\N,\N,ALMS1
443640,2:73669486:T>C,NM_015120.4:c.1433-5604T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.35,\N,\N,ALMS1
443641,2:73669509:T>A,NM_015120.4:c.1433-5581T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,12.28,0.0015,1KG_AFR_AF,ALMS1
443642,2:73669527:G>C,NM_015120.4:c.1433-5563G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,11.33,\N,\N,ALMS1
443643,2:73669530:C>T,NM_015120.4:c.1433-5560C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,14.26,\N,\N,ALMS1
443644,2:73669591:C>T,NM_015120.4:c.1433-5499C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.156,0.0008,1KG_AFR_AF,ALMS1
443645,2:73669618:T>C,NM_015120.4:c.1433-5472T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.791,\N,\N,ALMS1
443646,2:73669635:A>AC,NM_015120.4:c.1433-5453dup,\N,\N,7/22,Unknown significance,\N,intron_variant,0.435,0.0023,1KG_AFR_AF,ALMS1
443647,2:73669638:A>G,NM_015120.4:c.1433-5452A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.476,0.001,1KG_SAS_AF,ALMS1
443648,2:73669686:A>G,NM_015120.4:c.1433-5404A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.199,\N,\N,ALMS1
443649,2:73669699:C>T,NM_015120.4:c.1433-5391C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.337,\N,\N,ALMS1
443650,2:73669737:C>T,NM_015120.4:c.1433-5353C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.333,0.003,1KG_AFR_AF,ALMS1
443651,2:73669752:A>G,NM_015120.4:c.1433-5338A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.277,\N,\N,ALMS1
443652,2:73669755:T>G,NM_015120.4:c.1433-5335T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,7.425,\N,\N,ALMS1
443653,2:73669764:C>T,NM_015120.4:c.1433-5326C>T,\N,\N,7/22,Benign,\N,intron_variant,1.886,0.0189,1KG_AFR_AF,ALMS1
443654,2:73669776:G>A,NM_015120.4:c.1433-5314G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.278,0.0008,1KG_AFR_AF,ALMS1
443655,2:73669779:C>T,NM_015120.4:c.1433-5311C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.032,0.0015,1KG_AFR_AF,ALMS1
443656,2:73669805:C>T,NM_015120.4:c.1433-5285C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,5.159,0.0008,1KG_AFR_AF,ALMS1
443657,2:73669824:A>G,NM_015120.4:c.1433-5266A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.544,\N,\N,ALMS1
443658,2:73669848:G>C,NM_015120.4:c.1433-5242G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.304,0.0015,1KG_AFR_AF,ALMS1
443659,2:73669864:C>T,NM_015120.4:c.1433-5226C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,6.736,\N,\N,ALMS1
443660,2:73669874:A>C,NM_015120.4:c.1433-5216A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.994,0.002,1KG_EAS_AF,ALMS1
443661,2:73669875:A>G,NM_015120.4:c.1433-5215A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.18,\N,\N,ALMS1
443662,2:73669895:A>T,NM_015120.4:c.1433-5195A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.092,\N,\N,ALMS1
443663,2:73669896:G>A,NM_015120.4:c.1433-5194G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.639,\N,\N,ALMS1
443664,2:73669911:T>C,NM_015120.4:c.1433-5179T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.604,\N,\N,ALMS1
443665,2:73669941:G>A,NM_015120.4:c.1433-5149G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.728,\N,\N,ALMS1
443666,2:73669954:C>T,NM_015120.4:c.1433-5136C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.657,0.0008,1KG_AFR_AF,ALMS1
443667,2:73669959:A>G,NM_015120.4:c.1433-5131A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.718,\N,\N,ALMS1
443668,2:73670060:A>C,NM_015120.4:c.1433-5030A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.944,0.0008,1KG_AFR_AF,ALMS1
443669,2:73670087:G>A,NM_015120.4:c.1433-5003G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.863,0.002,1KG_EUR_AF,ALMS1
443670,2:73670105:T>C,NM_015120.4:c.1433-4985T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,7.711,0.0008,1KG_AFR_AF,ALMS1
443671,2:73670128:C>T,NM_015120.4:c.1433-4962C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.582,\N,\N,ALMS1
443672,2:73670142:A>G,NM_015120.4:c.1433-4948A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.127,0.002,1KG_EAS_AF,ALMS1
443673,2:73670144:C>G,NM_015120.4:c.1433-4946C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.428,0.0008,1KG_AFR_AF,ALMS1
443674,2:73670150:C>G,NM_015120.4:c.1433-4940C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.17,0.0015,1KG_AFR_AF,ALMS1
443675,2:73670166:G>A,NM_015120.4:c.1433-4924G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.37,\N,\N,ALMS1
443676,2:73670179:G>C,NM_015120.4:c.1433-4911G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.399,0.001,1KG_SAS_AF,ALMS1
443677,2:73670239:C>T,NM_015120.4:c.1433-4851C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.405,0.002,1KG_EUR_AF,ALMS1
443678,2:73670251:A>G,NM_015120.4:c.1433-4839A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.427,0.002,1KG_EAS_AF,ALMS1
443679,2:73670270:C>G,NM_015120.4:c.1433-4820C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.033,0.001,1KG_EAS_AF,ALMS1
443680,2:73670296:T>C,NM_015120.4:c.1433-4794T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,8.872,\N,\N,ALMS1
443681,2:73670317:T>C,NM_015120.4:c.1433-4773T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.794,0.0045,1KG_AFR_AF,ALMS1
443682,2:73670364:A>G,NM_015120.4:c.1433-4726A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.863,\N,\N,ALMS1
443683,2:73670408:C>G,NM_015120.4:c.1433-4682C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.636,0.001,1KG_EUR_AF,ALMS1
443684,2:73670424:C>T,NM_015120.4:c.1433-4666C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.853,\N,\N,ALMS1
443685,2:73670426:A>G,NM_015120.4:c.1433-4664A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.239,\N,\N,ALMS1
443686,2:73670456:T>G,NM_015120.4:c.1433-4634T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,15.42,\N,\N,ALMS1
443687,2:73670481:A>G,NM_015120.4:c.1433-4609A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,14.19,0.001,1KG_EAS_AF,ALMS1
443688,2:73670562:C>T,NM_015120.4:c.1433-4528C>T,\N,\N,7/22,Benign,\N,intron_variant,3.296,0.0109,1KG_EAS_AF,ALMS1
443689,2:73670586:TTC>T,NM_015120.4:c.1433-4502_1433-4501del,\N,\N,7/22,Unknown significance,\N,intron_variant,1.455,0.003,1KG_AFR_AF,ALMS1
443690,2:73670625:G>A,NM_015120.4:c.1433-4465G>A,\N,\N,7/22,Benign,\N,intron_variant,4.394,0.0303,1KG_AFR_AF,ALMS1
443691,2:73670668:G>C,NM_015120.4:c.1433-4422G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.052,0.0014,1KG_AMR_AF,ALMS1
443692,2:73670683:G>C,NM_015120.4:c.1433-4407G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.967,0.001,1KG_EUR_AF,ALMS1
443693,2:73670695:A>G,NM_015120.4:c.1433-4395A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.773,0.0008,1KG_AFR_AF,ALMS1
443694,2:73670708:C>CT,NM_015120.4:c.1433-4374dup,\N,\N,7/22,Benign,\N,intron_variant,3.424,0.0363,1KG_AFR_AF,ALMS1
443695,2:73670708:CT>C,NM_015120.4:c.1433-4374del,\N,\N,7/22,Benign,\N,intron_variant,3.09,0.2557,1KG_AFR_AF,ALMS1
443696,2:73670753:G>A,NM_015120.4:c.1433-4337G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.546,\N,\N,ALMS1
443697,2:73670756:G>A,NM_015120.4:c.1433-4334G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.012,0.0014,1KG_AMR_AF,ALMS1
443698,2:73670765:C>G,NM_015120.4:c.1433-4325C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.044,0.0014,1KG_AMR_AF,ALMS1
443699,2:73670766:G>A,NM_015120.4:c.1433-4324G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.892,0.0031,1KG_SAS_AF,ALMS1
443700,2:73670885:G>A,NM_015120.4:c.1433-4205G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,0.361,0.001,1KG_EAS_AF,ALMS1
443701,2:73670923:A>G,NM_015120.4:c.1433-4167A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.531,\N,\N,ALMS1
443702,2:73670999:A>G,NM_015120.4:c.1433-4091A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.008,\N,\N,ALMS1
443703,2:73671005:A>G,NM_015120.4:c.1433-4085A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.292,0.001,1KG_SAS_AF,ALMS1
443704,2:73671064:G>A,NM_015120.4:c.1433-4026G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.588,0.003,1KG_AFR_AF,ALMS1
443705,2:73671078:A>G,NM_015120.4:c.1433-4012A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.167,0.001,1KG_EUR_AF,ALMS1
443706,2:73671098:T>C,NM_015120.4:c.1433-3992T>C,\N,\N,7/22,Benign,\N,intron_variant,7.881,0.005,1KG_EUR_AF,ALMS1
443707,2:73671120:G>A,NM_015120.4:c.1433-3970G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,11.26,0.002,1KG_EAS_AF,ALMS1
443708,2:73671150:C>T,NM_015120.4:c.1433-3940C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.46,\N,\N,ALMS1
443709,2:73671160:T>TCC,NM_015120.4:c.1433-3929_1433-3928dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443710,2:73671181:C>T,NM_015120.4:c.1433-3909C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.904,0.001,1KG_SAS_AF,ALMS1
443711,2:73671201:C>G,NM_015120.4:c.1433-3889C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.328,\N,\N,ALMS1
443712,2:73671223:T>G,NM_015120.4:c.1433-3867T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,13.07,0.0031,1KG_SAS_AF,ALMS1
443713,2:73671229:A>G,NM_015120.4:c.1433-3861A>G,\N,\N,7/22,Benign,\N,intron_variant,0.997,0.9438,1KG_AMR_AF,ALMS1
443714,2:73671231:A>G,NM_015120.4:c.1433-3859A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.089,\N,\N,ALMS1
443715,2:73671280:G>A,NM_015120.4:c.1433-3810G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.634,\N,\N,ALMS1
443716,2:73671358:C>G,NM_015120.4:c.1433-3732C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.508,0.003,1KG_AFR_AF,ALMS1
443717,2:73671377:T>A,NM_015120.4:c.1433-3713T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.977,\N,\N,ALMS1
443718,2:73671379:C>G,NM_015120.4:c.1433-3711C>G,\N,\N,7/22,Benign,\N,intron_variant,2.55,0.0083,1KG_AFR_AF,ALMS1
443719,2:73671403:T>G,NM_015120.4:c.1433-3687T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,12.8,\N,\N,ALMS1
443720,2:73671415:C>T,NM_015120.4:c.1433-3675C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,12.45,0.001,1KG_SAS_AF,ALMS1
443721,2:73671420:A>G,NM_015120.4:c.1433-3670A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.25,0.0014,1KG_AMR_AF,ALMS1
443722,2:73671440:G>A,NM_015120.4:c.1433-3650G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.795,0.0008,1KG_AFR_AF,ALMS1
443723,2:73671458:G>T,NM_015120.4:c.1433-3632G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.328,\N,\N,ALMS1
443724,2:73671469:C>A,NM_015120.4:c.1433-3621C>A,\N,\N,7/22,Benign,\N,intron_variant,5.051,0.0109,1KG_EUR_AF,ALMS1
443725,2:73671470:C>A,NM_015120.4:c.1433-3620C>A,\N,\N,7/22,Benign,\N,intron_variant,5.012,0.0109,1KG_EUR_AF,ALMS1
443726,2:73671470:C>CCAGTTATAACTGAATTCTTCTTTAA,NM_015120.4:c.1433-3617_1433-3616insTTATAACTGAATTCTTCTTTAACAG,\N,\N,7/22,Unknown significance,\N,intron_variant,1.416,\N,\N,ALMS1
443727,2:73671510:G>A,NM_015120.4:c.1433-3580G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.624,0.002,1KG_EUR_AF,ALMS1
443728,2:73671527:A>G,NM_015120.4:c.1433-3563A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.167,\N,\N,ALMS1
443729,2:73671582:A>G,NM_015120.4:c.1433-3508A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.569,\N,\N,ALMS1
443730,2:73671627:C>T,NM_015120.4:c.1433-3463C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.58,0.001,1KG_EUR_AF,ALMS1
443731,2:73671631:C>T,NM_015120.4:c.1433-3459C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,6.905,0.001,1KG_EUR_AF,ALMS1
443732,2:73671644:A>G,NM_015120.4:c.1433-3446A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.177,0.0008,1KG_AFR_AF,ALMS1
443733,2:73671689:A>G,NM_015120.4:c.1433-3401A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.015,0.0008,1KG_AFR_AF,ALMS1
443734,2:73671701:C>T,NM_015120.4:c.1433-3389C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.641,0.0008,1KG_AFR_AF,ALMS1
443735,2:73671711:AT>A,NM_015120.4:c.1433-3374del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443736,2:73671767:C>T,NM_015120.4:c.1433-3323C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,10.81,0.0008,1KG_AFR_AF,ALMS1
443737,2:73671791:A>G,NM_015120.4:c.1433-3299A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,9.929,\N,\N,ALMS1
443738,2:73671889:T>C,NM_015120.4:c.1433-3201T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.037,\N,\N,ALMS1
443739,2:73671900:A>G,NM_015120.4:c.1433-3190A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.337,\N,\N,ALMS1
443740,2:73671911:T>G,NM_015120.4:c.1433-3179T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.517,\N,\N,ALMS1
443741,2:73671987:A>G,NM_015120.4:c.1433-3103A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.843,0.0008,1KG_AFR_AF,ALMS1
443742,2:73671996:C>T,NM_015120.4:c.1433-3094C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.495,\N,\N,ALMS1
443743,2:73672018:C>G,NM_015120.4:c.1433-3072C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.769,0.0008,1KG_AFR_AF,ALMS1
443744,2:73672028:ATTAT>A,NM_015120.4:c.1433-3058_1433-3055del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443745,2:73672032:T>G,NM_015120.4:c.1433-3058T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.666,\N,\N,ALMS1
443746,2:73672046:A>G,NM_015120.4:c.1433-3044A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.232,0.001,1KG_EUR_AF,ALMS1
443747,2:73672108:A>G,NM_015120.4:c.1433-2982A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.804,0.0014,1KG_AMR_AF,ALMS1
443748,2:73672158:A>G,NM_015120.4:c.1433-2932A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.484,0.001,1KG_EUR_AF,ALMS1
443749,2:73672168:G>GT,NM_015120.4:c.1433-2919dup,\N,\N,7/22,Benign,\N,intron_variant,1.56,0.7847,1KG_EAS_AF,ALMS1
443750,2:73672171:T>TG,NM_015120.4:c.1433-2919_1433-2918insG,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443751,2:73672176:C>G,NM_015120.4:c.1433-2914C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.316,\N,\N,ALMS1
443752,2:73672186:A>T,NM_015120.4:c.1433-2904A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.076,0.002,1KG_EAS_AF,ALMS1
443753,2:73672207:C>CT,NM_015120.4:c.1433-2878dup,\N,\N,7/22,Unknown significance,\N,intron_variant,4.521,\N,\N,ALMS1
443754,2:73672212:TA>T,NM_015120.4:c.1433-2869del,\N,\N,7/22,Unknown significance,\N,intron_variant,2.342,\N,\N,ALMS1
443755,2:73672213:A>T,NM_015120.4:c.1433-2877A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.516,0.002,1KG_EAS_AF|1KG_SAS_AF,ALMS1
443756,2:73672247:G>C,NM_015120.4:c.1433-2843G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.331,\N,\N,ALMS1
443757,2:73672253:A>G,NM_015120.4:c.1433-2837A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,7.179,\N,\N,ALMS1
443758,2:73672304:G>A,NM_015120.4:c.1433-2786G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.255,0.001,1KG_EAS_AF,ALMS1
443759,2:73672339:C>G,NM_015120.4:c.1433-2751C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.685,\N,\N,ALMS1
443760,2:73672356:C>T,NM_015120.4:c.1433-2734C>T,\N,\N,7/22,Benign,\N,intron_variant,6.837,0.1369,1KG_AFR_AF,ALMS1
443761,2:73672357:A>G,NM_015120.4:c.1433-2733A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.421,\N,\N,ALMS1
443762,2:73672389:T>C,NM_015120.4:c.1433-2701T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.308,0.001,1KG_SAS_AF,ALMS1
443763,2:73672410:G>A,NM_015120.4:c.1433-2680G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.359,0.001,1KG_EUR_AF,ALMS1
443764,2:73672416:A>G,NM_015120.4:c.1433-2674A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.115,\N,\N,ALMS1
443765,2:73672430:G>A,NM_015120.4:c.1433-2660G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.097,\N,\N,ALMS1
443766,2:73672437:C>G,NM_015120.4:c.1433-2653C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.494,\N,\N,ALMS1
443767,2:73672458:T>TG,NM_015120.4:c.1433-2632_1433-2631insG,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443768,2:73672500:C>G,NM_015120.4:c.1433-2590C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,9.896,0.001,1KG_SAS_AF,ALMS1
443769,2:73672501:C>A,NM_015120.4:c.1433-2589C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,10.82,0.0014,1KG_AMR_AF,ALMS1
443770,2:73672511:A>C,NM_015120.4:c.1433-2579A>C,\N,\N,7/22,Benign,\N,intron_variant,0.778,0.0371,1KG_AFR_AF,ALMS1
443771,2:73672536:C>T,NM_015120.4:c.1433-2554C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,5.709,\N,\N,ALMS1
443772,2:73672540:T>C,NM_015120.4:c.1433-2550T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,2.667,\N,\N,ALMS1
443773,2:73672562:C>G,NM_015120.4:c.1433-2528C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.94,\N,\N,ALMS1
443774,2:73672629:C>T,NM_015120.4:c.1433-2461C>T,\N,\N,7/22,Benign,\N,intron_variant,0.346,0.1994,1KG_EAS_AF,ALMS1
443775,2:73672630:G>A,NM_015120.4:c.1433-2460G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.582,0.0008,1KG_AFR_AF,ALMS1
443776,2:73672767:C>T,NM_015120.4:c.1433-2323C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.353,0.001,1KG_SAS_AF,ALMS1
443777,2:73672774:T>TA,NM_015120.4:c.1433-2315dup,\N,\N,7/22,Benign,\N,intron_variant,1.35,0.9438,1KG_AMR_AF,ALMS1
443778,2:73672776:G>A,NM_015120.4:c.1433-2314G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.76,\N,\N,ALMS1
443779,2:73672777:G>A,NM_015120.4:c.1433-2313G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.893,\N,\N,ALMS1
443780,2:73672785:C>A,NM_015120.4:c.1433-2305C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,4.274,\N,\N,ALMS1
443781,2:73672789:G>T,NM_015120.4:c.1433-2301G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.112,0.0014,1KG_AMR_AF,ALMS1
443782,2:73672808:T>G,NM_015120.4:c.1433-2282T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,14.18,\N,\N,ALMS1
443783,2:73672826:T>C,NM_015120.4:c.1433-2264T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.995,0.001,1KG_SAS_AF,ALMS1
443784,2:73672826:TAAA>T,NM_015120.4:c.1433-2263_1433-2261del,\N,\N,7/22,Benign,\N,intron_variant,6.163,0.0227,1KG_AFR_AF,ALMS1
443785,2:73672849:C>A,NM_015120.4:c.1433-2241C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,5.017,\N,\N,ALMS1
443786,2:73672879:C>T,NM_015120.4:c.1433-2211C>T,\N,\N,7/22,Benign,\N,intron_variant,1.945,0.0086,1KG_AMR_AF,ALMS1
443787,2:73672912:C>CT,NM_015120.4:c.1433-2174dup,\N,\N,7/22,Benign,\N,intron_variant,7.143,0.9438,1KG_AMR_AF,ALMS1
443788,2:73672917:C>T,NM_015120.4:c.1433-2173C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,6.978,\N,\N,ALMS1
443789,2:73672963:C>T,NM_015120.4:c.1433-2127C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.714,\N,\N,ALMS1
443790,2:73672986:C>T,NM_015120.4:c.1433-2104C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.792,0.0008,1KG_AFR_AF,ALMS1
443791,2:73673031:C>T,NM_015120.4:c.1433-2059C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.925,0.0031,1KG_SAS_AF,ALMS1
443792,2:73673068:TAAG>T,NM_015120.4:c.1433-2021_1433-2019del,\N,\N,7/22,Benign,\N,intron_variant,7.367,0.0371,1KG_AFR_AF,ALMS1
443793,2:73673082:A>G,NM_015120.4:c.1433-2008A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.949,0.001,1KG_EAS_AF,ALMS1
443794,2:73673096:A>G,NM_015120.4:c.1433-1994A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.22,\N,\N,ALMS1
443795,2:73673123:C>T,NM_015120.4:c.1433-1967C>T,\N,\N,7/22,Benign,\N,intron_variant,2.961,0.8593,1KG_AFR_AF,ALMS1
443796,2:73673123:CAT>TAC,NM_015120.4:c.1433-1967_1433-1965delinsTAC,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443797,2:73673125:T>C,NM_015120.4:c.1433-1965T>C,\N,\N,7/22,Benign,\N,intron_variant,1.38,0.0628,1KG_AFR_AF,ALMS1
443798,2:73673129:A>G,NM_015120.4:c.1433-1961A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.54,\N,\N,ALMS1
443799,2:73673138:A>T,NM_015120.4:c.1433-1952A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.72,\N,\N,ALMS1
443800,2:73673208:A>G,NM_015120.4:c.1433-1882A>G,\N,\N,7/22,Benign,\N,intron_variant,2.909,0.0234,1KG_AFR_AF,ALMS1
443801,2:73673209:C>G,NM_015120.4:c.1433-1881C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.876,\N,\N,ALMS1
443802,2:73673214:A>T,NM_015120.4:c.1433-1876A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.764,0.0015,1KG_AFR_AF,ALMS1
443803,2:73673220:C>T,NM_015120.4:c.1433-1870C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,3.575,\N,\N,ALMS1
443804,2:73673223:T>G,NM_015120.4:c.1433-1867T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.532,0.001,1KG_SAS_AF,ALMS1
443805,2:73673231:T>G,NM_015120.4:c.1433-1859T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.807,\N,\N,ALMS1
443806,2:73673245:C>T,NM_015120.4:c.1433-1845C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.105,0.001,1KG_EAS_AF,ALMS1
443807,2:73673265:A>G,NM_015120.4:c.1433-1825A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.703,\N,\N,ALMS1
443808,2:73673266:T>C,NM_015120.4:c.1433-1824T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.807,0.001,1KG_EUR_AF,ALMS1
443809,2:73673271:G>A,NM_015120.4:c.1433-1819G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.662,0.004,1KG_EAS_AF,ALMS1
443810,2:73673277:C>G,NM_015120.4:c.1433-1813C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,9.82,0.0008,1KG_AFR_AF,ALMS1
443811,2:73673325:C>A,NM_015120.4:c.1433-1765C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,3.125,\N,\N,ALMS1
443812,2:73673343:G>T,NM_015120.4:c.1433-1747G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.364,0.0023,1KG_AFR_AF,ALMS1
443813,2:73673374:ACT>A,NM_015120.4:c.1433-1714_1433-1713del,\N,\N,7/22,Benign,\N,intron_variant,4.984,0.0182,1KG_AFR_AF,ALMS1
443814,2:73673377:C>G,NM_015120.4:c.1433-1713C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.359,0.001,1KG_SAS_AF,ALMS1
443815,2:73673551:CTT>C,NM_015120.4:c.1433-1536_1433-1535del,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443816,2:73673603:A>C,NM_015120.4:c.1433-1487A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.195,0.0014,1KG_AMR_AF,ALMS1
443817,2:73673616:C>T,NM_015120.4:c.1433-1474C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,4.993,0.0015,1KG_AFR_AF,ALMS1
443818,2:73673640:T>G,NM_015120.4:c.1433-1450T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,6.357,\N,\N,ALMS1
443819,2:73673705:C>A,NM_015120.4:c.1433-1385C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.973,\N,\N,ALMS1
443820,2:73673713:A>C,NM_015120.4:c.1433-1377A>C,\N,\N,7/22,Benign,\N,intron_variant,0.149,0.0143,1KG_SAS_AF,ALMS1
443821,2:73673718:AT>A,NM_015120.4:c.1433-1369del,\N,\N,7/22,Unknown significance,\N,intron_variant,3.563,\N,\N,ALMS1
443822,2:73673729:T>C,NM_015120.4:c.1433-1361T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,5.554,0.002,1KG_EUR_AF,ALMS1
443823,2:73673749:C>T,NM_015120.4:c.1433-1341C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.713,0.001,1KG_SAS_AF,ALMS1
443824,2:73673753:A>G,NM_015120.4:c.1433-1337A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.875,\N,\N,ALMS1
443825,2:73673760:A>G,NM_015120.4:c.1433-1330A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.641,\N,\N,ALMS1
443826,2:73673761:T>G,NM_015120.4:c.1433-1329T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.913,\N,\N,ALMS1
443827,2:73673782:T>C,NM_015120.4:c.1433-1308T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.769,0.0023,1KG_AFR_AF,ALMS1
443828,2:73673798:C>T,NM_015120.4:c.1433-1292C>T,\N,\N,7/22,Benign,\N,intron_variant,4.826,0.8593,1KG_AFR_AF,ALMS1
443829,2:73673828:C>T,NM_015120.4:c.1433-1262C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.763,\N,\N,ALMS1
443830,2:73673872:A>G,NM_015120.4:c.1433-1218A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.747,\N,\N,ALMS1
443831,2:73673878:G>T,NM_015120.4:c.1433-1212G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.56,0.0041,1KG_SAS_AF,ALMS1
443832,2:73673925:G>A,NM_015120.4:c.1433-1165G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.518,0.001,1KG_EUR_AF,ALMS1
443833,2:73673944:A>C,NM_015120.4:c.1433-1146A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,0.857,\N,\N,ALMS1
443834,2:73673997:C>T,NM_015120.4:c.1433-1093C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.746,0.0008,1KG_AFR_AF,ALMS1
443835,2:73674021:A>G,NM_015120.4:c.1433-1069A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,0.206,\N,\N,ALMS1
443836,2:73674053:G>T,NM_015120.4:c.1433-1037G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.024,\N,\N,ALMS1
443837,2:73674080:A>G,NM_015120.4:c.1433-1010A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.018,\N,\N,ALMS1
443838,2:73674089:A>G,NM_015120.4:c.1433-1001A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.696,\N,\N,ALMS1
443839,2:73674132:G>T,NM_015120.4:c.1433-958G>T,\N,\N,7/22,Unknown significance,\N,intron_variant,2.304,\N,\N,ALMS1
443840,2:73674186:C>CTGTT,NM_015120.4:c.1433-902_1433-899dup,\N,\N,7/22,Benign,\N,intron_variant,5.833,0.9438,1KG_AMR_AF,ALMS1
443841,2:73674186:C>CTTGT,NM_015120.4:c.1433-903_1433-902insTGTT,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443842,2:73674186:C>T,NM_015120.4:c.1433-904C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,5.5,\N,\N,ALMS1
443843,2:73674188:G>GGTTT,NM_015120.4:c.1433-902_1433-901insGTTT,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443844,2:73674234:A>T,NM_015120.4:c.1433-856A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.609,0.001,1KG_EAS_AF,ALMS1
443845,2:73674256:A>G,NM_015120.4:c.1433-834A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,3.669,\N,\N,ALMS1
443846,2:73674261:G>T,NM_015120.4:c.1433-829G>T,\N,\N,7/22,Benign,\N,intron_variant,1.334,0.928,1KG_AMR_AF,ALMS1
443847,2:73674308:A>T,NM_015120.4:c.1433-782A>T,\N,\N,7/22,Unknown significance,\N,intron_variant,11.88,0.0008,1KG_AFR_AF,ALMS1
443848,2:73674313:G>A,NM_015120.4:c.1433-777G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,10.28,0.001,1KG_EUR_AF,ALMS1
443849,2:73674345:G>C,NM_015120.4:c.1433-745G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,3.753,\N,\N,ALMS1
443850,2:73674395:C>A,NM_015120.4:c.1433-695C>A,\N,\N,7/22,Benign,\N,intron_variant,2.316,0.0061,1KG_AFR_AF,ALMS1
443851,2:73674460:A>G,NM_015120.4:c.1433-630A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.544,\N,\N,ALMS1
443852,2:73674470:G>A,NM_015120.4:c.1433-620G>A,\N,\N,7/22,Benign,\N,intron_variant,1.724,0.0149,1KG_EUR_AF,ALMS1
443853,2:73674485:T>G,NM_015120.4:c.1433-605T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.358,\N,\N,ALMS1
443854,2:73674488:T>G,NM_015120.4:c.1433-602T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,4.684,\N,\N,ALMS1
443855,2:73674489:C>A,NM_015120.4:c.1433-601C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.958,\N,\N,ALMS1
443856,2:73674512:C>T,NM_015120.4:c.1433-578C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,1.244,\N,\N,ALMS1
443857,2:73674528:A>AAT,NM_015120.4:c.1433-551_1433-550dup,\N,\N,7/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
443858,2:73674585:C>T,NM_015120.4:c.1433-505C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,0.229,0.001,1KG_EAS_AF,ALMS1
443859,2:73674611:G>C,NM_015120.4:c.1433-479G>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.849,\N,\N,ALMS1
443860,2:73674648:G>A,NM_015120.4:c.1433-442G>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.92,\N,\N,ALMS1
443861,2:73674659:C>G,NM_015120.4:c.1433-431C>G,\N,\N,7/22,Unknown significance,\N,intron_variant,11.7,0.002,1KG_SAS_AF,ALMS1
443862,2:73674714:C>T,NM_015120.4:c.1433-376C>T,\N,\N,7/22,Unknown significance,\N,intron_variant,4.186,\N,\N,ALMS1
443863,2:73674745:A>G,NM_015120.4:c.1433-345A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,8.564,0.0008,1KG_AFR_AF,ALMS1
443864,2:73674765:T>G,NM_015120.4:c.1433-325T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,18.79,\N,\N,ALMS1
443865,2:73674827:A>G,NM_015120.4:c.1433-263A>G,\N,\N,7/22,Benign,\N,intron_variant,4.154,0.0068,1KG_AFR_AF,ALMS1
443866,2:73674852:C>A,NM_015120.4:c.1433-238C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,2.274,\N,\N,ALMS1
443867,2:73674888:CTGT>C,NM_015120.4:c.1433-196_1433-194del,\N,\N,7/22,Benign,\N,intron_variant,3.628,0.0129,1KG_EAS_AF,ALMS1
443868,2:73674900:AT>A,NM_015120.4:c.1433-187del,\N,\N,7/22,Benign,\N,intron_variant,5.291,0.7817,1KG_EAS_AF,ALMS1
443869,2:73674901:T>A,NM_015120.4:c.1433-189T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.366,\N,\N,ALMS1
443870,2:73674903:T>A,NM_015120.4:c.1433-187T>A,\N,\N,7/22,Unknown significance,\N,intron_variant,7.525,\N,\N,ALMS1
443871,2:73674903:TA>T,NM_015120.4:c.1433-183del,\N,\N,7/22,Unknown significance,\N,intron_variant,7.992,\N,\N,ALMS1
443872,2:73674946:C>A,NM_015120.4:c.1433-144C>A,\N,\N,7/22,Benign,\N,intron_variant,3.283,0.0719,1KG_AFR_AF,ALMS1
443873,2:73674966:T>C,NM_015120.4:c.1433-124T>C,\N,\N,7/22,Benign,\N,intron_variant,8.166,0.0741,1KG_AFR_AF,ALMS1
443874,2:73674974:T>G,NM_015120.4:c.1433-116T>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.223,\N,\N,ALMS1
443875,2:73675019:CT>C,NM_015120.4:c.1433-64del,\N,\N,7/22,Benign,\N,intron_variant,0.798,0.7857,1KG_EAS_AF,ALMS1
443876,2:73675026:T>C,NM_015120.4:c.1433-64T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.531,0.001,1KG_EAS_AF,ALMS1
443877,2:73675026:TC>T,NM_015120.4:c.1433-62del,\N,\N,7/22,Unknown significance,\N,intron_variant,0.669,\N,\N,ALMS1
443878,2:73675028:C>A,NM_015120.4:c.1433-62C>A,\N,\N,7/22,Unknown significance,\N,intron_variant,1.928,\N,\N,ALMS1
443879,2:73675032:A>G,NM_015120.4:c.1433-58A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,2.735,\N,\N,ALMS1
443880,2:73675051:A>C,NM_015120.4:c.1433-39A>C,\N,\N,7/22,Unknown significance,\N,intron_variant,4.572,0.0000228592,EXAC_NFE_AF,ALMS1
443881,2:73675056:T>C,NM_015120.4:c.1433-34T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,1.469,0.000248633,EXAC_EAS_AF,ALMS1
443882,2:73675063:A>G,NM_015120.4:c.1433-27A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,5.67,0.0000373706,EXAC_NFE_AF,ALMS1
443883,2:73675067:T>C,NM_015120.4:c.1433-23T>C,\N,\N,7/22,Unknown significance,\N,intron_variant,7.04,\N,\N,ALMS1
443884,2:73675072:A>G,NM_015120.4:c.1433-18A>G,\N,\N,7/22,Unknown significance,\N,intron_variant,1.125,0.001,1KG_EUR_AF,ALMS1
443885,2:73675087:T>C,NM_015120.4:c.1433-3T>C,\N,\N,7/22,Unknown significance,\N,splice_region_variant&intron_variant,6.85,0.000276549,EVS_AA_AF,ALMS1
443886,2:73675089:G>A,NM_015120.4:c.1433-1G>A,\N,\N,7/22,Unknown significance,\N,splice_acceptor_variant,23.1,0.0000150848,EXAC_NFE_AF,ALMS1
443887,2:73675094:C>T,NM_015120.4:c.1437C>T,NP_055935.4:p.Asp480=,8/23,\N,Unknown significance,\N,synonymous_variant,1.422,0.000122339,EVS_EA_AF,ALMS1
443888,2:73675096:C>G,NM_015120.4:c.1439C>G,NP_055935.4:p.Thr481Ser,8/23,\N,Likely benign,\N,missense_variant,0.039,0.0000451508,EXAC_NFE_AF,ALMS1
443889,2:73675106:A>G,NM_015120.4:c.1449A>G,NP_055935.4:p.Gly484=,8/23,\N,Unknown significance,\N,synonymous_variant,2.398,0.0000870928,EXAC_AMR_AF,ALMS1
443890,2:73675108:G>A,NM_015120.4:c.1451G>A,NP_055935.4:p.Gly485Asp,8/23,\N,Likely benign,\N,missense_variant,11.94,0.00134409,EVS_AA_AF,ALMS1
443891,2:73675108:G>C,NM_015120.4:c.1451G>C,NP_055935.4:p.Gly485Ala,8/23,\N,Likely benign,\N,missense_variant,0.124,0.000122085,EXAC_SAS_AF,ALMS1
443892,2:73675108:G>T,NM_015120.4:c.1451G>T,NP_055935.4:p.Gly485Val,8/23,\N,Likely benign,\N,missense_variant,11.31,0.0000150267,EXAC_NFE_AF,ALMS1
443893,2:73675109:C>T,NM_015120.4:c.1452C>T,NP_055935.4:p.Gly485=,8/23,\N,Unknown significance,\N,synonymous_variant,8.308,0.000102062,EXAC_AFR_AF,ALMS1
443894,2:73675110:A>G,NM_015120.4:c.1453A>G,NP_055935.4:p.Ile486Val,8/23,\N,Unknown significance,\N,missense_variant,8.224,0.0043,1KG_AMR_AF,ALMS1
443895,2:73675114:C>G,NM_015120.4:c.1457C>G,NP_055935.4:p.Ala487Gly,8/23,\N,Likely benign,\N,missense_variant,20.6,0.001,1KG_SAS_AF,ALMS1
443896,2:73675127:A>G,NM_015120.4:c.1470A>G,NP_055935.4:p.Gln491=,8/23,\N,Unknown significance,\N,synonymous_variant,0.51,0.0000869565,EXAC_AMR_AF,ALMS1
443897,2:73675132:A>C,NM_015120.4:c.1475A>C,NP_055935.4:p.Asn493Thr,8/23,\N,Likely benign,\N,missense_variant,0.004,0.0000150105,EXAC_NFE_AF,ALMS1
443898,2:73675141:C>T,NM_015120.4:c.1484C>T,NP_055935.4:p.Ser496Leu,8/23,\N,Likely benign,\N,missense_variant,17.76,0.000102062,EXAC_AFR_AF,ALMS1
443899,2:73675151:T>C,NM_015120.4:c.1494T>C,NP_055935.4:p.Thr499=,8/23,\N,Unknown significance,\N,synonymous_variant,6.626,0.000015011,EXAC_NFE_AF,ALMS1
443900,2:73675156:C>T,NM_015120.4:c.1499C>T,NP_055935.4:p.Thr501Ile,8/23,\N,Likely benign,\N,missense_variant,23.2,0.0000150092,EXAC_NFE_AF,ALMS1
443901,2:73675159:C>G,NM_015120.4:c.1502C>G,NP_055935.4:p.Pro502Arg,8/23,\N,Unknown significance,\N,missense_variant,14.59,0.000173822,EXAC_AMR_AF,ALMS1
443902,2:73675164:G>A,NM_015120.4:c.1507G>A,NP_055935.4:p.Asp504Asn,8/23,\N,Unknown significance,\N,missense_variant,26.9,0.0000150096,EXAC_NFE_AF,ALMS1
443903,2:73675165:A>G,NM_015120.4:c.1508A>G,NP_055935.4:p.Asp504Gly,8/23,\N,Unknown significance,\N,missense_variant,25.5,0.000173792,EXAC_AMR_AF,ALMS1
443904,2:73675173:A>T,NM_015120.4:c.1516A>T,NP_055935.4:p.Ile507Phe,8/23,\N,Likely benign,\N,missense_variant,10.54,0.003,1KG_AFR_AF,ALMS1
443905,2:73675178:A>G,NM_015120.4:c.1521A>G,NP_055935.4:p.Gly508=,8/23,\N,Unknown significance,\N,synonymous_variant,6.562,0.0000869565,EXAC_AMR_AF,ALMS1
443906,2:73675181:T>C,NM_015120.4:c.1524T>C,NP_055935.4:p.Ser509=,8/23,\N,Unknown significance,\N,synonymous_variant,0.793,0.0000607312,EXAC_SAS_AF,ALMS1
443907,2:73675190:C>T,NM_015120.4:c.1533C>T,NP_055935.4:p.Ser512=,8/23,\N,Unknown significance,\N,synonymous_variant,14.16,0.0000606502,EXAC_SAS_AF,ALMS1
443908,2:73675205:C>G,NM_015120.4:c.1548C>G,NP_055935.4:p.Asp517Glu,8/23,\N,Likely benign,\N,missense_variant,13.37,0.000165086,EXAC_NFE_AF,ALMS1
443909,2:73675214:G>A,NM_015120.4:c.1557G>A,NP_055935.4:p.Gln520=,8/23,\N,Unknown significance,\N,synonymous_variant,5.116,0.000204165,EXAC_AFR_AF,ALMS1
443910,2:73675224:A>ATTC,NM_015120.4:c.1567_1568insTTC,NP_055935.4:p.Ser524delinsIleArg,8/23,\N,Unknown significance,\N,protein_altering_variant,\N,\N,\N,ALMS1
443911,2:73675225:G>GTTC,NM_015120.4:c.1570_1572dup,NP_055935.4:p.Ser525dup,8/23,\N,Unknown significance,\N,inframe_insertion,\N,\N,\N,ALMS1
443912,2:73675226:T>TTC,NM_015120.4:c.1573_1574dup,NP_055935.4:p.Glu528Ter,8/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
443913,2:73675226:T>TTCC,NM_015120.4:c.1571_1572insCTC,NP_055935.4:p.Ser525dup,8/23,\N,Unknown significance,\N,inframe_insertion,\N,\N,\N,ALMS1
443914,2:73675227:T>TCTC,NM_015120.4:c.1571_1573dup,NP_055935.4:p.Pro526_Leu526insPro,8/23,\N,Benign,\N,inframe_insertion,1.608,0.7847,1KG_EAS_AF,ALMS1
443915,2:73675227:TCTC>T,NM_015120.4:c.1571_1573del,NP_055935.4:p.Pro526del,8/23,\N,Likely benign,Alstrom syndrome,inframe_deletion,\N,\N,\N,ALMS1
443916,2:73675227:T>C,NM_015120.4:c.1570T>C,NP_055935.4:p.Ser525Pro,8/23,\N,Unknown significance,\N,missense_variant,11.7,\N,\N,ALMS1
443917,2:73675229:T>TCTC,NM_015120.4:c.1574_1575insCCT,NP_055935.4:p.Leu527dup,8/23,\N,Unknown significance,\N,inframe_insertion,\N,\N,\N,ALMS1
443918,2:73675232:A>G,NM_015120.4:c.1575A>G,NP_055935.4:p.Leu527=,8/23,\N,Unknown significance,\N,synonymous_variant,0.102,0.0000163999,EXAC_NFE_AF,ALMS1
443919,2:73675233:G>C,NM_015120.4:c.1576G>C,NP_055935.4:p.Glu528Gln,8/23,\N,Likely benign,\N,missense_variant,0.079,0.0000630835,EXAC_SAS_AF,ALMS1
443920,2:73675242:A>G,NM_015120.4:c.1585A>G,NP_055935.4:p.Thr531Ala,8/23,\N,Likely benign,\N,missense_variant,0.004,0.0000149961,EXAC_NFE_AF,ALMS1
443921,2:73675244:T>C,NM_015120.4:c.1587T>C,NP_055935.4:p.Thr531=,8/23,\N,Unknown significance,\N,synonymous_variant,0.539,0.0000149966,EXAC_NFE_AF,ALMS1
443922,2:73675256:T>G,NM_015120.4:c.1599T>G,NP_055935.4:p.Thr535=,8/23,\N,Unknown significance,\N,synonymous_variant,0.099,0.0000149957,EXAC_NFE_AF,ALMS1
443923,2:73675261:C>G,NM_015120.4:c.1604C>G,NP_055935.4:p.Thr537Ser,8/23,\N,Likely benign,\N,missense_variant,1.123,0.0000749693,EXAC_NFE_AF,ALMS1
443924,2:73675263:C>G,NM_015120.4:c.1606C>G,NP_055935.4:p.Leu538Val,8/23,\N,Likely benign,\N,missense_variant,0.004,0.000729217,EVS_EA_AF,ALMS1
443925,2:73675276:C>A,NM_015120.4:c.1619C>A,NP_055935.4:p.Thr542Lys,8/23,\N,Likely benign,\N,missense_variant,0.516,0.0008,1KG_AFR_AF,ALMS1
443926,2:73675281:G>A,NM_015120.4:c.1624G>A,NP_055935.4:p.Ala544Thr,8/23,\N,Likely benign,\N,missense_variant,2.595,0.000060584,EXAC_SAS_AF,ALMS1
443927,2:73675287:A>G,NM_015120.4:c.1630A>G,NP_055935.4:p.Thr546Ala,8/23,\N,Unknown significance,\N,missense_variant,0.76,0.0014,1KG_AMR_AF,ALMS1
443928,2:73675288:C>T,NM_015120.4:c.1631C>T,NP_055935.4:p.Thr546Ile,8/23,\N,Unknown significance,\N,missense_variant,15.56,0.0000605767,EXAC_SAS_AF,ALMS1
443929,2:73675289:T>A,NM_015120.4:c.1632T>A,NP_055935.4:p.Thr546=,8/23,\N,Unknown significance,\N,synonymous_variant,6.798,0.0000149925,EXAC_NFE_AF,ALMS1
443930,2:73675323:AT>A,NM_015120.4:c.1668del,NP_055935.4:p.Pro559LeufsTer37,8/23,\N,Likely pathogenic,\N,frameshift_variant,\N,\N,\N,ALMS1
443931,2:73675323:A>G,NM_015120.4:c.1666A>G,NP_055935.4:p.Ile558Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000149912,EXAC_NFE_AF,ALMS1
443932,2:73675326:C>G,NM_015120.4:c.1669C>G,NP_055935.4:p.Pro559Ala,8/23,\N,Likely benign,\N,missense_variant,0.268,\N,\N,ALMS1
443933,2:73675334:A>C,NM_015120.4:c.1677A>C,NP_055935.4:p.Pro561=,8/23,\N,Unknown significance,\N,synonymous_variant,0.031,0.0000149889,EXAC_NFE_AF,ALMS1
443934,2:73675335:G>A,NM_015120.4:c.1678G>A,NP_055935.4:p.Ala562Thr,8/23,\N,Likely benign,\N,missense_variant,3.264,0.000116117,EXAC_EAS_AF,ALMS1
443935,2:73675345:A>G,NM_015120.4:c.1688A>G,NP_055935.4:p.Lys565Arg,8/23,\N,Unknown significance,\N,missense_variant,24.6,0.000523286,EVS_AA_AF,ALMS1
443936,2:73675349:T>C,NM_015120.4:c.1692T>C,NP_055935.4:p.Thr566=,8/23,\N,Unknown significance,\N,synonymous_variant,0.293,0.000522739,EVS_AA_AF,ALMS1
443937,2:73675354:C>T,NM_015120.4:c.1697C>T,NP_055935.4:p.Thr568Ile,8/23,\N,Likely benign,\N,missense_variant,0.891,0.0000149885,EXAC_NFE_AF,ALMS1
443938,2:73675355:A>G,NM_015120.4:c.1698A>G,NP_055935.4:p.Thr568=,8/23,\N,Unknown significance,\N,synonymous_variant,0.056,0.0008,1KG_AFR_AF,ALMS1
443939,2:73675356:C>T,NM_015120.4:c.1699C>T,NP_055935.4:p.Pro569Ser,8/23,\N,Likely benign,\N,missense_variant,0.633,0.0000149898,EXAC_NFE_AF,ALMS1
443940,2:73675361:A>G,NM_015120.4:c.1704A>G,NP_055935.4:p.Thr570=,8/23,\N,Unknown significance,\N,synonymous_variant,0.008,0.0000605694,EXAC_SAS_AF,ALMS1
443941,2:73675364:A>C,NM_015120.4:c.1707A>C,NP_055935.4:p.Val571=,8/23,\N,Unknown significance,\N,synonymous_variant,0.041,0.0008,1KG_AFR_AF,ALMS1
443942,2:73675371:A>G,NM_015120.4:c.1714A>G,NP_055935.4:p.Ser574Gly,8/23,\N,Likely benign,\N,missense_variant,6.135,0.001,1KG_EAS_AF,ALMS1
443943,2:73675375:C>G,NM_015120.4:c.1718C>G,NP_055935.4:p.Ser575Cys,8/23,\N,Unknown significance,\N,missense_variant,23,0.0000149925,EXAC_NFE_AF,ALMS1
443944,2:73675380:TC>T,NM_015120.4:c.1724del,NP_055935.4:p.Ser577TyrfsTer19,8/23,\N,Unknown significance,\N,frameshift_variant,23.2,\N,\N,ALMS1
443945,2:73675381:C>G,NM_015120.4:c.1724C>G,NP_055935.4:p.Ser577Ter,8/23,\N,Unknown significance,\N,stop_gained,33,0.0000867905,EXAC_AMR_AF,ALMS1
443946,2:73675385:T>C,NM_015120.4:c.1728T>C,NP_055935.4:p.His578=,8/23,\N,Unknown significance,\N,synonymous_variant,0.006,0.000060562,EXAC_SAS_AF,ALMS1
443947,2:73675385:TA>T,NM_015120.4:c.1729del,NP_055935.4:p.Arg579GlyfsTer17,8/23,\N,Unknown significance,\N,frameshift_variant,23.2,0.0000149903,EXAC_NFE_AF,ALMS1
443948,2:73675393:A>C,NM_015120.4:c.1736A>C,NP_055935.4:p.Lys581Thr,8/23,\N,Likely benign,\N,missense_variant,22.5,0.0000868659,EXAC_AMR_AF,ALMS1
443949,2:73675408:A>G,NM_015120.4:c.1751A>G,NP_055935.4:p.Tyr586Cys,8/23,\N,Likely benign,\N,missense_variant,13.12,0.0000605694,EXAC_SAS_AF,ALMS1
443950,2:73675412:G>A,NM_015120.4:c.1755G>A,NP_055935.4:p.Gln587=,8/23,\N,Unknown significance,\N,synonymous_variant,0.804,0.000121418,EVS_EA_AF,ALMS1
443951,2:73675426:A>T,NM_015120.4:c.1769A>T,NP_055935.4:p.Asp592Val,8/23,\N,Likely benign,\N,missense_variant,22,\N,\N,ALMS1
443952,2:73675427:C>T,NM_015120.4:c.1770C>T,NP_055935.4:p.Asp592=,8/23,\N,Unknown significance,\N,synonymous_variant,6.564,0.000464037,EXAC_EAS_AF,ALMS1
443953,2:73675430:T>C,NM_015120.4:c.1773T>C,NP_055935.4:p.Ser593=,8/23,\N,Unknown significance,\N,synonymous_variant,4.885,0.0000605767,EXAC_SAS_AF,ALMS1
443954,2:73675431:C>T,NM_015120.4:c.1774C>T,NP_055935.4:p.His594Tyr,8/23,\N,Likely benign,\N,missense_variant,9.357,0.0008,1KG_AFR_AF,ALMS1
443955,2:73675442:A>AGAGGCTTT,NM_015120.4:c.1788_1795dup,NP_055935.4:p.Lys601ArgfsTer3,8/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
443956,2:73675446:G>A,NM_015120.4:c.1789G>A,NP_055935.4:p.Ala599Thr,8/23,\N,Likely benign,\N,missense_variant,18.41,0.0000149894,EXAC_NFE_AF,ALMS1
443957,2:73675461:G>A,NM_015120.4:c.1804G>A,NP_055935.4:p.Ala604Thr,8/23,\N,Likely benign,\N,missense_variant,21.1,0.000121139,EXAC_SAS_AF,ALMS1
443958,2:73675472:A>G,NM_015120.4:c.1815A>G,NP_055935.4:p.Gly607=,8/23,\N,Unknown significance,\N,synonymous_variant,2.153,0.0000149898,EXAC_NFE_AF,ALMS1
443959,2:73675488:A>C,NM_015120.4:c.1831A>C,NP_055935.4:p.Thr613Pro,8/23,\N,Likely benign,\N,missense_variant,7.602,0.000102041,EXAC_AFR_AF,ALMS1
443960,2:73675489:C>T,NM_015120.4:c.1832C>T,NP_055935.4:p.Thr613Ile,8/23,\N,Likely benign,\N,missense_variant,23.1,0.000116009,EXAC_EAS_AF,ALMS1
443961,2:73675492:G>A,NM_015120.4:c.1835G>A,NP_055935.4:p.Gly614Asp,8/23,\N,Benign,\N,missense_variant,12.88,0.00642857,EXAC_AFR_AF,ALMS1
443962,2:73675506:A>G,NM_015120.4:c.1849A>G,NP_055935.4:p.Thr619Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
443963,2:73675510:C>T,NM_015120.4:c.1853C>T,NP_055935.4:p.Ser620Phe,8/23,\N,Unknown significance,\N,missense_variant,17.3,0.0008,1KG_AFR_AF,ALMS1
443964,2:73675512:A>G,NM_015120.4:c.1855A>G,NP_055935.4:p.Thr621Ala,8/23,\N,Likely benign,\N,missense_variant,0.574,0.0000149903,EXAC_NFE_AF,ALMS1
443965,2:73675516:C>A,NM_015120.4:c.1859C>A,NP_055935.4:p.Ser622Tyr,8/23,\N,Unknown significance,\N,missense_variant,13.62,0.0000605694,EXAC_SAS_AF,ALMS1
443966,2:73675519:A>G,NM_015120.4:c.1862A>G,NP_055935.4:p.Tyr623Cys,8/23,\N,Likely pathogenic,Cardiomyopathy,missense_variant,12.83,\N,\N,ALMS1
443967,2:73675521:T>C,NM_015120.4:c.1864T>C,NP_055935.4:p.Ser624Pro,8/23,\N,Unknown significance,\N,missense_variant,19.02,0.0000899388,EXAC_NFE_AF,ALMS1
443968,2:73675525:A>G,NM_015120.4:c.1868A>G,NP_055935.4:p.His625Arg,8/23,\N,Benign,\N,missense_variant,0.002,0.0287937,EXAC_NFE_AF,ALMS1
443969,2:73675527:A>G,NM_015120.4:c.1870A>G,NP_055935.4:p.Arg626Gly,8/23,\N,Likely benign,\N,missense_variant,0.044,0.000060562,EXAC_SAS_AF,ALMS1
443970,2:73675538:T>C,NM_015120.4:c.1881T>C,NP_055935.4:p.Pro629=,8/23,\N,Unknown significance,\N,synonymous_variant,0.119,0.000134912,EXAC_NFE_AF,ALMS1
443971,2:73675540:G>A,NM_015120.4:c.1883G>A,NP_055935.4:p.Gly630Asp,8/23,\N,Likely benign,\N,missense_variant,0.207,0.0008,1KG_AFR_AF,ALMS1
443972,2:73675546:T>C,NM_015120.4:c.1889T>C,NP_055935.4:p.Phe632Ser,8/23,\N,Likely benign,\N,missense_variant,22.3,0.0000149898,EXAC_NFE_AF,ALMS1
443973,2:73675551:C>T,NM_015120.4:c.1894C>T,NP_055935.4:p.Gln634Ter,8/23,\N,Unknown significance,\N,stop_gained,26.2,0.0000605694,EXAC_SAS_AF,ALMS1
443974,2:73675553:A>G,NM_015120.4:c.1896A>G,NP_055935.4:p.Gln634=,8/23,\N,Benign,\N,synonymous_variant,0.677,0.0545,1KG_AFR_AF,ALMS1
443975,2:73675554:C>T,NM_015120.4:c.1897C>T,NP_055935.4:p.Gln635Ter,8/23,\N,Unknown significance,\N,stop_gained,34,0.0000149925,EXAC_NFE_AF,ALMS1
443976,2:73675559:G>C,NM_015120.4:c.1902G>C,NP_055935.4:p.Glu636Asp,8/23,\N,Likely benign,\N,missense_variant,0.002,\N,\N,ALMS1
443977,2:73675580:C>T,NM_015120.4:c.1923C>T,NP_055935.4:p.Thr643=,8/23,\N,Unknown significance,\N,synonymous_variant,11.91,0.0000449856,EXAC_NFE_AF,ALMS1
443978,2:73675581:G>A,NM_015120.4:c.1924G>A,NP_055935.4:p.Glu644Lys,8/23,\N,Unknown significance,\N,missense_variant,23.5,0.000232072,EXAC_EAS_AF,ALMS1
443979,2:73675587:C>G,NM_015120.4:c.1930C>G,NP_055935.4:p.Pro646Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0008,1KG_AFR_AF,ALMS1
443980,2:73675587:C>T,NM_015120.4:c.1930C>T,NP_055935.4:p.Pro646Ser,8/23,\N,Likely benign,\N,missense_variant,0.029,0.000060584,EXAC_SAS_AF,ALMS1
443981,2:73675595:A>G,NM_015120.4:c.1938A>G,NP_055935.4:p.Glu648=,8/23,\N,Unknown significance,\N,synonymous_variant,0.314,0.000102082,EXAC_AFR_AF,ALMS1
443982,2:73675620:G>A,NM_015120.4:c.1963G>A,NP_055935.4:p.Glu657Lys,8/23,\N,Unknown significance,\N,missense_variant,19.95,0.000102124,EXAC_AFR_AF,ALMS1
443983,2:73675625:G>T,NM_015120.4:c.1968G>T,NP_055935.4:p.Gln658His,8/23,\N,Unknown significance,\N,missense_variant,23.6,0.000074985,EXAC_NFE_AF,ALMS1
443984,2:73675630:C>G,NM_015120.4:c.1973C>G,NP_055935.4:p.Thr660Arg,8/23,\N,Unknown significance,\N,missense_variant,24.6,0.001,1KG_EUR_AF,ALMS1
443985,2:73675630:C>T,NM_015120.4:c.1973C>T,NP_055935.4:p.Thr660Met,8/23,\N,Unknown significance,\N,missense_variant,25.4,0.00111111,EXAC_OTH_AF,ALMS1
443986,2:73675631:G>A,NM_015120.4:c.1974G>A,NP_055935.4:p.Thr660=,8/23,\N,Unknown significance,\N,synonymous_variant,9.414,0.0015,1KG_AFR_AF,ALMS1
443987,2:73675644:G>A,NM_015120.4:c.1987G>A,NP_055935.4:p.Val665Ile,8/23,\N,Likely benign,\N,missense_variant,10.09,\N,\N,ALMS1
443988,2:73675650:T>C,NM_015120.4:c.1993T>C,NP_055935.4:p.Ser667Pro,8/23,\N,Likely benign,\N,missense_variant,0.601,0.0000605694,EXAC_SAS_AF,ALMS1
443989,2:73675653:A>G,NM_015120.4:c.1996A>G,NP_055935.4:p.Thr668Ala,8/23,\N,Likely benign,\N,missense_variant,0.277,0.001,1KG_EUR_AF,ALMS1
443990,2:73675657:C>A,NM_015120.4:c.2000C>A,NP_055935.4:p.Ser669Tyr,8/23,\N,Unknown significance,\N,missense_variant,22.7,0.0000149907,EXAC_NFE_AF,ALMS1
443991,2:73675659:C>A,NM_015120.4:c.2002C>A,NP_055935.4:p.His670Asn,8/23,\N,Likely benign,\N,missense_variant,10.71,0.000102103,EXAC_AFR_AF,ALMS1
443992,2:73675662:T>A,NM_015120.4:c.2005T>A,NP_055935.4:p.Ser671Thr,8/23,\N,Likely benign,\N,missense_variant,22.2,0.000269825,EXAC_NFE_AF,ALMS1
443993,2:73675666:AT>A,NM_015120.4:c.2010del,NP_055935.4:p.His672GlnfsTer2,8/23,\N,Unknown significance,\N,frameshift_variant,15.59,\N,\N,ALMS1
443994,2:73675669:T>G,NM_015120.4:c.2012T>G,NP_055935.4:p.Val673Gly,8/23,\N,Benign,\N,missense_variant,0.662,0.948769,EXAC_AMR_AF,ALMS1
443995,2:73675675:A>G,NM_015120.4:c.2018A>G,NP_055935.4:p.Asp675Gly,8/23,\N,Likely benign,\N,missense_variant,1.095,0.000116036,EXAC_EAS_AF,ALMS1
443996,2:73675676:C>T,NM_015120.4:c.2019C>T,NP_055935.4:p.Asp675=,8/23,\N,Unknown significance,\N,synonymous_variant,5.201,0.000121183,EVS_EA_AF,ALMS1
443997,2:73675690:A>G,NM_015120.4:c.2033A>G,NP_055935.4:p.Tyr680Cys,8/23,\N,Unknown significance,\N,missense_variant,10.95,0.0029,1KG_AMR_AF,ALMS1
443998,2:73675691:TCG>T,NM_015120.4:c.2035_2036del,NP_055935.4:p.Arg681ThrfsTer10,8/23,\N,Unknown significance,\N,frameshift_variant,24.2,\N,\N,ALMS1
443999,2:73675692:C>G,NM_015120.4:c.2035C>G,NP_055935.4:p.Arg681Gly,8/23,\N,Unknown significance,\N,missense_variant,18.7,0.0045,1KG_AFR_AF,ALMS1
444000,2:73675695:C>T,NM_015120.4:c.2038C>T,NP_055935.4:p.Gln682Ter,8/23,\N,Unknown significance,\N,stop_gained,34,0.001,1KG_EAS_AF,ALMS1
444001,2:73675696:A>T,NM_015120.4:c.2039A>T,NP_055935.4:p.Gln682Leu,8/23,\N,Unknown significance,\N,missense_variant,22.6,0.0000149925,EXAC_NFE_AF,ALMS1
444002,2:73675697:G>C,NM_015120.4:c.2040G>C,NP_055935.4:p.Gln682His,8/23,\N,Likely benign,\N,missense_variant,17.04,\N,\N,ALMS1
444003,2:73675698:A>AC,NM_015120.4:c.2043dup,NP_055935.4:p.Pro685AlafsTer7,8/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
444004,2:73675700:C>T,NM_015120.4:c.2043C>T,NP_055935.4:p.Thr683=,8/23,\N,Unknown significance,\N,synonymous_variant,6.957,0.001,1KG_SAS_AF,ALMS1
444005,2:73675701:T>G,NM_015120.4:c.2044T>G,NP_055935.4:p.Leu684Val,8/23,\N,Likely benign,\N,missense_variant,8.049,0.0000605694,EXAC_SAS_AF,ALMS1
444006,2:73675706:A>C,NM_015120.4:c.2049A>C,NP_055935.4:p.Pro685=,8/23,\N,Unknown significance,\N,synonymous_variant,0.015,0.000116036,EXAC_EAS_AF,ALMS1
444007,2:73675708:A>G,NM_015120.4:c.2051A>G,NP_055935.4:p.Asp686Gly,8/23,\N,Likely benign,\N,missense_variant,0.543,0.0000605694,EXAC_SAS_AF,ALMS1
444008,2:73675711:G>A,NM_015120.4:c.2054G>A,NP_055935.4:p.Gly687Asp,8/23,\N,Likely benign,\N,missense_variant,12.14,0.000116009,EXAC_EAS_AF,ALMS1
444009,2:73675713:C>T,NM_015120.4:c.2056C>T,NP_055935.4:p.His688Tyr,8/23,\N,Likely benign,\N,missense_variant,10.88,0.0000149925,EXAC_NFE_AF,ALMS1
444010,2:73675717:T>C,NM_015120.4:c.2060T>C,NP_055935.4:p.Leu689Pro,8/23,\N,Likely benign,\N,missense_variant,13.08,0.0000605694,EXAC_SAS_AF,ALMS1
444011,2:73675719:A>G,NM_015120.4:c.2062A>G,NP_055935.4:p.Thr690Ala,8/23,\N,Likely benign,\N,missense_variant,5.549,0.00060562,EVS_EA_AF,ALMS1
444012,2:73675720:C>T,NM_015120.4:c.2063C>T,NP_055935.4:p.Thr690Ile,8/23,\N,Likely benign,\N,missense_variant,15.23,\N,\N,ALMS1
444013,2:73675725:C>G,NM_015120.4:c.2068C>G,NP_055935.4:p.Gln692Glu,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000605694,EXAC_SAS_AF,ALMS1
444014,2:73675740:TC>T,NM_015120.4:c.2084del,NP_055935.4:p.Ser697Ter,8/23,\N,Unknown significance,\N,frameshift_variant,23,0.0000149921,EXAC_NFE_AF,ALMS1
444015,2:73675748:G>A,NM_015120.4:c.2091G>A,NP_055935.4:p.Val699=,8/23,\N,Unknown significance,\N,synonymous_variant,5.401,0.0000149934,EXAC_NFE_AF,ALMS1
444016,2:73675753:G>A,NM_015120.4:c.2096G>A,NP_055935.4:p.Gly701Glu,8/23,\N,Likely benign,\N,missense_variant,13.2,0.0000299868,EXAC_NFE_AF,ALMS1
444017,2:73675757:A>C,NM_015120.4:c.2100A>C,NP_055935.4:p.Pro702=,8/23,\N,Unknown significance,\N,synonymous_variant,0.009,0.000695572,EXAC_EAS_AF,ALMS1
444018,2:73675761:G>C,NM_015120.4:c.2104G>C,NP_055935.4:p.Asp704His,8/23,\N,Unknown significance,\N,missense_variant,22.9,0.0000865202,EXAC_AMR_AF,ALMS1
444019,2:73675769:G>A,NM_015120.4:c.2112G>A,NP_055935.4:p.Lys706=,8/23,\N,Unknown significance,\N,synonymous_variant,9.039,\N,\N,ALMS1
444020,2:73675776:A>G,NM_015120.4:c.2119A>G,NP_055935.4:p.Thr709Ala,8/23,\N,Likely benign,\N,missense_variant,9.91,0.00230164,EXAC_SAS_AF,ALMS1
444021,2:73675777:C>T,NM_015120.4:c.2120C>T,NP_055935.4:p.Thr709Ile,8/23,\N,Likely benign,\N,missense_variant,0.136,0.0008,1KG_AFR_AF,ALMS1
444022,2:73675779:G>A,NM_015120.4:c.2122G>A,NP_055935.4:p.Ala710Thr,8/23,\N,Likely benign,\N,missense_variant,0.601,0.0000605694,EXAC_SAS_AF,ALMS1
444023,2:73675782:A>G,NM_015120.4:c.2125A>G,NP_055935.4:p.Thr711Ala,8/23,\N,Likely benign,\N,missense_variant,0.011,0.001,1KG_EUR_AF,ALMS1
444024,2:73675785:G>C,NM_015120.4:c.2128G>C,NP_055935.4:p.Val712Leu,8/23,\N,Likely benign,\N,missense_variant,1.508,\N,\N,ALMS1
444025,2:73675787:ACT>A,NM_015120.4:c.2135_2136del,NP_055935.4:p.Ser714TyrfsTer6,8/23,\N,Pathogenic,Alstrom syndrome; ALSTROM SYNDROME,frameshift_variant,20.1,\N,\N,ALMS1
444026,2:73675788:C>G,NM_015120.4:c.2131C>G,NP_055935.4:p.Leu713Val,8/23,\N,Likely benign,\N,missense_variant,0.021,0.000121566,EVS_EA_AF,ALMS1
444027,2:73675788:C>T,NM_015120.4:c.2131C>T,NP_055935.4:p.Leu713Phe,8/23,\N,Likely benign,\N,missense_variant,14.17,0.000232019,EXAC_EAS_AF,ALMS1
444028,2:73675790:C>T,NM_015120.4:c.2133C>T,NP_055935.4:p.Leu713=,8/23,\N,Unknown significance,\N,synonymous_variant,8.01,0.0000299886,EXAC_NFE_AF,ALMS1
444029,2:73675792:C>G,NM_015120.4:c.2135C>G,NP_055935.4:p.Ser714Cys,8/23,\N,Unknown significance,\N,missense_variant,23.1,0.0000605694,EXAC_SAS_AF,ALMS1
444030,2:73675795:C>T,NM_015120.4:c.2138C>T,NP_055935.4:p.Thr715Ile,8/23,\N,Likely benign,\N,missense_variant,22.9,0.0000605694,EXAC_SAS_AF,ALMS1
444031,2:73675806:C>G,NM_015120.4:c.2149C>G,NP_055935.4:p.His719Asp,8/23,\N,Likely benign,\N,missense_variant,12.52,0.000181708,EXAC_SAS_AF,ALMS1
444032,2:73675806:C>T,NM_015120.4:c.2149C>T,NP_055935.4:p.His719Tyr,8/23,\N,Likely benign,\N,missense_variant,0.284,0.000121951,EVS_EA_AF,ALMS1
444033,2:73675808:T>G,NM_015120.4:c.2151T>G,NP_055935.4:p.His719Gln,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000149948,EXAC_NFE_AF,ALMS1
444034,2:73675813:A>G,NM_015120.4:c.2156A>G,NP_055935.4:p.Glu721Gly,8/23,\N,Likely benign,\N,missense_variant,23.6,0.000116009,EXAC_EAS_AF,ALMS1
444035,2:73675816:A>C,NM_015120.4:c.2159A>C,NP_055935.4:p.Lys722Thr,8/23,\N,Likely benign,\N,missense_variant,21.6,0.000172921,EXAC_AMR_AF,ALMS1
444036,2:73675817:G>A,NM_015120.4:c.2160G>A,NP_055935.4:p.Lys722=,8/23,\N,Unknown significance,\N,synonymous_variant,9.594,\N,\N,ALMS1
444037,2:73675824:AT>A,NM_015120.4:c.2173del,NP_055935.4:p.Tyr727ThrfsTer53,8/23,\N,Unknown significance,\N,frameshift_variant,18.06,0.0000864603,EXAC_AMR_AF,ALMS1
444038,2:73675838:A>G,NM_015120.4:c.2181A>G,NP_055935.4:p.Gln729=,8/23,\N,Unknown significance,\N,synonymous_variant,0.257,0.001,1KG_SAS_AF,ALMS1
444039,2:73675841:G>A,NM_015120.4:c.2184G>A,NP_055935.4:p.Glu730=,8/23,\N,Unknown significance,\N,synonymous_variant,3.664,0.002,1KG_EAS_AF,ALMS1
444040,2:73675841:GT>G,NM_015120.4:c.2186del,NP_055935.4:p.Phe731SerfsTer49,8/23,\N,Unknown significance,\N,frameshift_variant,12.46,0.0000605694,EXAC_SAS_AF,ALMS1
444041,2:73675841:G>T,NM_015120.4:c.2184G>T,NP_055935.4:p.Glu730Asp,8/23,\N,Likely benign,\N,missense_variant,0.003,0.0000149943,EXAC_NFE_AF,ALMS1
444042,2:73675844:C>T,NM_015120.4:c.2187C>T,NP_055935.4:p.Phe731=,8/23,\N,Benign,\N,synonymous_variant,11.47,0.7798,1KG_EAS_AF,ALMS1
444043,2:73675844:CGCAGACAG>C,NM_015120.4:c.2188_2195del,NP_055935.4:p.Ala732SerfsTer4,8/23,\N,Unknown significance,\N,frameshift_variant,25.1,0.000060562,EXAC_SAS_AF,ALMS1
444044,2:73675848:G>A,NM_015120.4:c.2191G>A,NP_055935.4:p.Asp733Asn,8/23,\N,Likely benign,\N,missense_variant,10.11,0.0000606722,EXAC_SAS_AF,ALMS1
444045,2:73675850:C>G,NM_015120.4:c.2193C>G,NP_055935.4:p.Asp733Glu,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000150128,EXAC_NFE_AF,ALMS1
444046,2:73675850:C>T,NM_015120.4:c.2193C>T,NP_055935.4:p.Asp733=,8/23,\N,Unknown significance,\N,synonymous_variant,1.67,0.0001731,EXAC_AMR_AF,ALMS1
444047,2:73675857:C>G,NM_015120.4:c.2200C>G,NP_055935.4:p.Gln736Glu,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444048,2:73675872:C>T,NM_015120.4:c.2215C>T,NP_055935.4:p.Leu741Phe,8/23,\N,Unknown significance,\N,missense_variant,23.4,0.000060562,EXAC_SAS_AF,ALMS1
444049,2:73675874:T>TA,NM_015120.4:c.2218dup,NP_055935.4:p.Thr742AsnfsTer2,8/23,\N,Unknown significance,\N,frameshift_variant,20.7,0.000060562,EXAC_SAS_AF,ALMS1
444050,2:73675876:C>G,NM_015120.4:c.2219C>G,NP_055935.4:p.Thr742Ser,8/23,\N,Likely benign,\N,missense_variant,0.037,0.0000149979,EXAC_NFE_AF,ALMS1
444051,2:73675876:C>T,NM_015120.4:c.2219C>T,NP_055935.4:p.Thr742Ile,8/23,\N,Likely benign,\N,missense_variant,1.695,0.000348189,EXAC_EAS_AF,ALMS1
444052,2:73675880:A>G,NM_015120.4:c.2223A>G,NP_055935.4:p.Lys743=,8/23,\N,Unknown significance,\N,synonymous_variant,0.04,\N,\N,ALMS1
444053,2:73675882:T>TTTCAGC,NM_015120.4:c.2226_2231dup,NP_055935.4:p.Ser745_Ala746dup,8/23,\N,Unknown significance,\N,inframe_insertion,3.14,\N,\N,ALMS1
444054,2:73675892:T>A,NM_015120.4:c.2235T>A,NP_055935.4:p.Thr747=,8/23,\N,Unknown significance,\N,synonymous_variant,6.697,\N,\N,ALMS1
444055,2:73675894:C>T,NM_015120.4:c.2237C>T,NP_055935.4:p.Pro748Leu,8/23,\N,Likely benign,\N,missense_variant,8.857,\N,\N,ALMS1
444056,2:73675897:G>T,NM_015120.4:c.2240G>T,NP_055935.4:p.Gly749Val,8/23,\N,Likely benign,\N,missense_variant,12.26,0.000172891,EXAC_AMR_AF,ALMS1
444057,2:73675899:C>A,NM_015120.4:c.2242C>A,NP_055935.4:p.Pro750Thr,8/23,\N,Likely benign,\N,missense_variant,11.75,0.001,1KG_SAS_AF,ALMS1
444058,2:73675914:A>C,NM_015120.4:c.2257A>C,NP_055935.4:p.Thr755Pro,8/23,\N,Likely benign,\N,missense_variant,11.04,0.00030281,EXAC_SAS_AF,ALMS1
444059,2:73675923:C>T,NM_015120.4:c.2266C>T,NP_055935.4:p.Pro758Ser,8/23,\N,Likely benign,\N,missense_variant,20.6,0.000075021,EXAC_NFE_AF,ALMS1
444060,2:73675925:A>G,NM_015120.4:c.2268A>G,NP_055935.4:p.Pro758=,8/23,\N,Unknown significance,\N,synonymous_variant,0.199,0.0000864454,EXAC_AMR_AF,ALMS1
444061,2:73675937:T>C,NM_015120.4:c.2280T>C,NP_055935.4:p.Ser762=,8/23,\N,Unknown significance,\N,synonymous_variant,1.711,0.001,1KG_EUR_AF,ALMS1
444062,2:73675938:A>G,NM_015120.4:c.2281A>G,NP_055935.4:p.Ser763Gly,8/23,\N,Likely benign,\N,missense_variant,0.015,0.000231965,EXAC_EAS_AF,ALMS1
444063,2:73675939:G>C,NM_015120.4:c.2282G>C,NP_055935.4:p.Ser763Thr,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000463929,EXAC_EAS_AF,ALMS1
444064,2:73675946:C>T,NM_015120.4:c.2289C>T,NP_055935.4:p.Tyr765=,8/23,\N,Unknown significance,\N,synonymous_variant,3.664,0.000060562,EXAC_SAS_AF,ALMS1
444065,2:73675947:T>C,NM_015120.4:c.2290T>C,NP_055935.4:p.Ser766Pro,8/23,\N,Likely benign,\N,missense_variant,11.16,0.000121566,EVS_EA_AF,ALMS1
444066,2:73675949:A>G,NM_015120.4:c.2292A>G,NP_055935.4:p.Ser766=,8/23,\N,Unknown significance,\N,synonymous_variant,0.621,0.001,1KG_EAS_AF,ALMS1
444067,2:73675950:C>A,NM_015120.4:c.2293C>A,NP_055935.4:p.Gln767Lys,8/23,\N,Likely benign,\N,missense_variant,8.769,0.000121625,EVS_EA_AF,ALMS1
444068,2:73675960:A>G,NM_015120.4:c.2303A>G,NP_055935.4:p.Lys770Arg,8/23,\N,Likely benign,\N,missense_variant,9.575,0.00015124,EXAC_FIN_AF,ALMS1
444069,2:73675963:C>G,NM_015120.4:c.2306C>G,NP_055935.4:p.Pro771Arg,8/23,\N,Likely benign,\N,missense_variant,7.059,0.000115955,EXAC_EAS_AF,ALMS1
444070,2:73675963:C>T,NM_015120.4:c.2306C>T,NP_055935.4:p.Pro771Leu,8/23,\N,Likely benign,\N,missense_variant,20.2,0.0015,1KG_AFR_AF,ALMS1
444071,2:73675973:G>A,NM_015120.4:c.2316G>A,NP_055935.4:p.Leu774=,8/23,\N,Benign,\N,synonymous_variant,2.909,0.0565684,EVS_AA_AF,ALMS1
444072,2:73675976:C>T,NM_015120.4:c.2319C>T,NP_055935.4:p.Tyr775=,8/23,\N,Unknown significance,\N,synonymous_variant,4.292,0.0000150074,EXAC_NFE_AF,ALMS1
444073,2:73675980:C>T,NM_015120.4:c.2323C>T,NP_055935.4:p.Gln777Ter,8/23,\N,Unknown significance,\N,stop_gained,35,0.0000150092,EXAC_NFE_AF,ALMS1
444074,2:73675985:C>A,NM_015120.4:c.2328C>A,NP_055935.4:p.Asp778Glu,8/23,\N,Likely benign,\N,missense_variant,0.001,0.000121124,EXAC_SAS_AF,ALMS1
444075,2:73675986:T>G,NM_015120.4:c.2329T>G,NP_055935.4:p.Leu779Val,8/23,\N,Likely benign,\N,missense_variant,17.94,0.000060562,EXAC_SAS_AF,ALMS1
444076,2:73675993:A>G,NM_015120.4:c.2336A>G,NP_055935.4:p.Asp781Gly,8/23,\N,Likely benign,\N,missense_variant,0.243,0.0000300156,EXAC_NFE_AF,ALMS1
444077,2:73675996:G>A,NM_015120.4:c.2339G>A,NP_055935.4:p.Ser782Asn,8/23,\N,Likely benign,\N,missense_variant,12.65,0.0000150078,EXAC_NFE_AF,ALMS1
444078,2:73675999:A>G,NM_015120.4:c.2342A>G,NP_055935.4:p.His783Arg,8/23,\N,Likely benign,\N,missense_variant,0.004,\N,\N,ALMS1
444079,2:73676001:C>G,NM_015120.4:c.2344C>G,NP_055935.4:p.Leu784Val,8/23,\N,Likely benign,\N,missense_variant,17.14,0.0000150078,EXAC_NFE_AF,ALMS1
444080,2:73676008:A>G,NM_015120.4:c.2351A>G,NP_055935.4:p.Glu786Gly,8/23,\N,Benign,\N,missense_variant,18.81,0.0337,1KG_EAS_AF,ALMS1
444081,2:73676024:T>G,NM_015120.4:c.2367T>G,NP_055935.4:p.Val791=,8/23,\N,Unknown significance,\N,synonymous_variant,4.962,0.00026469,EVS_AA_AF,ALMS1
444082,2:73676043:G>GTCTT,NM_015120.4:c.2386_2387insTCTT,NP_055935.4:p.Ala798ValfsTer3,8/23,\N,Unknown significance,\N,frameshift_variant,23,\N,\N,ALMS1
444083,2:73676045:T>C,NM_015120.4:c.2388T>C,NP_055935.4:p.Ala798=,8/23,\N,Unknown significance,\N,synonymous_variant,1.446,\N,\N,ALMS1
444084,2:73676048:C>T,NM_015120.4:c.2391C>T,NP_055935.4:p.Asp799=,8/23,\N,Unknown significance,\N,synonymous_variant,8.58,0.000102249,EXAC_AFR_AF,ALMS1
444085,2:73676050:A>G,NM_015120.4:c.2393A>G,NP_055935.4:p.Gln800Arg,8/23,\N,Likely benign,\N,missense_variant,21.4,0.001,1KG_EAS_AF,ALMS1
444086,2:73676053:A>C,NM_015120.4:c.2396A>C,NP_055935.4:p.Lys801Thr,8/23,\N,Unknown significance,\N,missense_variant,22.7,0.0000149975,EXAC_NFE_AF,ALMS1
444087,2:73676054:G>A,NM_015120.4:c.2397G>A,NP_055935.4:p.Lys801=,8/23,\N,Unknown significance,\N,synonymous_variant,8.339,0.0000149975,EXAC_NFE_AF,ALMS1
444088,2:73676057:T>C,NM_015120.4:c.2400T>C,NP_055935.4:p.Thr802=,8/23,\N,Unknown significance,\N,synonymous_variant,0.649,\N,\N,ALMS1
444089,2:73676067:A>G,NM_015120.4:c.2410A>G,NP_055935.4:p.Thr806Ala,8/23,\N,Likely benign,\N,missense_variant,0.006,0.000692881,EXAC_AMR_AF,ALMS1
444090,2:73676070:G>C,NM_015120.4:c.2413G>C,NP_055935.4:p.Val807Leu,8/23,\N,Benign,\N,missense_variant,14.61,0.023909,EXAC_EAS_AF,ALMS1
444091,2:73676074:C>G,NM_015120.4:c.2417C>G,NP_055935.4:p.Pro808Arg,8/23,\N,Unknown significance,\N,missense_variant,18.24,0.00017328,EXAC_AMR_AF,ALMS1
444092,2:73676088:T>G,NM_015120.4:c.2431T>G,NP_055935.4:p.Ser813Ala,8/23,\N,Likely benign,\N,missense_variant,19.81,0.000262605,EVS_AA_AF,ALMS1
444093,2:73676092:A>T,NM_015120.4:c.2435A>T,NP_055935.4:p.His814Leu,8/23,\N,Likely benign,\N,missense_variant,0.15,0.000232126,EXAC_EAS_AF,ALMS1
444094,2:73676093:CAG>C,NM_015120.4:c.2442_2443del,NP_055935.4:p.Lys817AlafsTer29,8/23,\N,Unknown significance,\N,frameshift_variant,24.1,0.0000149948,EXAC_NFE_AF,ALMS1
444095,2:73676093:C>G,NM_015120.4:c.2436C>G,NP_055935.4:p.His814Gln,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000149948,EXAC_NFE_AF,ALMS1
444096,2:73676096:A>G,NM_015120.4:c.2439A>G,NP_055935.4:p.Arg815=,8/23,\N,Unknown significance,\N,synonymous_variant,0.248,0.000151194,EXAC_FIN_AF,ALMS1
444097,2:73676097:G>C,NM_015120.4:c.2440G>C,NP_055935.4:p.Glu816Gln,8/23,\N,Likely benign,\N,missense_variant,16,0.000121536,EVS_EA_AF,ALMS1
444098,2:73676104:T>C,NM_015120.4:c.2447T>C,NP_055935.4:p.Leu818Pro,8/23,\N,Likely benign,\N,missense_variant,0.564,0.0000149934,EXAC_NFE_AF,ALMS1
444099,2:73676114:C>G,NM_015120.4:c.2457C>G,NP_055935.4:p.Phe821Leu,8/23,\N,Likely benign,\N,missense_variant,9.178,0.0000149952,EXAC_NFE_AF,ALMS1
444100,2:73676118:C>T,NM_015120.4:c.2461C>T,NP_055935.4:p.Gln823Ter,8/23,\N,Unknown significance,\N,stop_gained,33,0.0000149912,EXAC_NFE_AF,ALMS1
444101,2:73676119:A>C,NM_015120.4:c.2462A>C,NP_055935.4:p.Gln823Pro,8/23,\N,Likely benign,\N,missense_variant,0.527,0.0000149912,EXAC_NFE_AF,ALMS1
444102,2:73676120:A>G,NM_015120.4:c.2463A>G,NP_055935.4:p.Gln823=,8/23,\N,Unknown significance,\N,synonymous_variant,0.358,0.000060562,EXAC_SAS_AF,ALMS1
444103,2:73676121:C>T,NM_015120.4:c.2464C>T,NP_055935.4:p.Gln824Ter,8/23,\N,Unknown significance,\N,stop_gained,32,0.000121477,EVS_EA_AF,ALMS1
444104,2:73676125:C>A,NM_015120.4:c.2468C>A,NP_055935.4:p.Ala825Asp,8/23,\N,Likely benign,\N,missense_variant,0.516,0.0000149925,EXAC_NFE_AF,ALMS1
444105,2:73676125:C>T,NM_015120.4:c.2468C>T,NP_055935.4:p.Ala825Val,8/23,\N,Likely benign,\N,missense_variant,7.639,0.000102062,EXAC_AFR_AF,ALMS1
444106,2:73676126:C>G,NM_015120.4:c.2469C>G,NP_055935.4:p.Ala825=,8/23,\N,Unknown significance,\N,synonymous_variant,8.106,0.000121389,EVS_EA_AF,ALMS1
444107,2:73676133:GACAGCCA>G,NM_015120.4:c.2477_2483del,NP_055935.4:p.Asp828ValfsTer7,8/23,\N,Unknown significance,\N,frameshift_variant,24.7,0.000102082,EXAC_AFR_AF,ALMS1
444108,2:73676135:C>T,NM_015120.4:c.2478C>T,NP_055935.4:p.Asp828=,8/23,\N,Unknown significance,\N,synonymous_variant,9.021,0.000121124,EXAC_SAS_AF,ALMS1
444109,2:73676139:C>T,NM_015120.4:c.2482C>T,NP_055935.4:p.His830Tyr,8/23,\N,Likely benign,\N,missense_variant,22.8,0.0000867754,EXAC_AMR_AF,ALMS1
444110,2:73676140:A>G,NM_015120.4:c.2483A>G,NP_055935.4:p.His830Arg,8/23,\N,Likely benign,\N,missense_variant,10.51,0.000121418,EVS_EA_AF,ALMS1
444111,2:73676141:T>C,NM_015120.4:c.2484T>C,NP_055935.4:p.His830=,8/23,\N,Unknown significance,\N,synonymous_variant,0.002,0.0000867604,EXAC_AMR_AF,ALMS1
444112,2:73676142:C>G,NM_015120.4:c.2485C>G,NP_055935.4:p.Leu831Val,8/23,\N,Likely benign,\N,missense_variant,11.86,0.000102103,EXAC_AFR_AF,ALMS1
444113,2:73676146:C>G,NM_015120.4:c.2489C>G,NP_055935.4:p.Pro832Arg,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.000060562,EXAC_SAS_AF,ALMS1
444114,2:73676147:C>T,NM_015120.4:c.2490C>T,NP_055935.4:p.Pro832=,8/23,\N,Unknown significance,\N,synonymous_variant,11.79,0.001,1KG_SAS_AF,ALMS1
444115,2:73676148:G>A,NM_015120.4:c.2491G>A,NP_055935.4:p.Glu833Lys,8/23,\N,Likely benign,\N,missense_variant,5.865,0.00026441,EVS_AA_AF,ALMS1
444116,2:73676152:A>G,NM_015120.4:c.2495A>G,NP_055935.4:p.Glu834Gly,8/23,\N,Unknown significance,\N,missense_variant,24,0.000029985,EXAC_NFE_AF,ALMS1
444117,2:73676156:T>C,NM_015120.4:c.2499T>C,NP_055935.4:p.Ala835=,8/23,\N,Unknown significance,\N,synonymous_variant,0.059,0.000102103,EXAC_AFR_AF,ALMS1
444118,2:73676159:G>A,NM_015120.4:c.2502G>A,NP_055935.4:p.Leu836=,8/23,\N,Unknown significance,\N,synonymous_variant,5.935,0.000014993,EXAC_NFE_AF,ALMS1
444119,2:73676163:G>A,NM_015120.4:c.2506G>A,NP_055935.4:p.Val838Ile,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000060562,EXAC_SAS_AF,ALMS1
444120,2:73676166:T>G,NM_015120.4:c.2509T>G,NP_055935.4:p.Ser839Ala,8/23,\N,Unknown significance,\N,missense_variant,21.8,0.0000149943,EXAC_NFE_AF,ALMS1
444121,2:73676171:T>G,NM_015120.4:c.2514T>G,NP_055935.4:p.Ala840=,8/23,\N,Unknown significance,\N,synonymous_variant,6.096,0.000173883,EXAC_AMR_AF,ALMS1
444122,2:73676185:C>T,NM_015120.4:c.2528C>T,NP_055935.4:p.Ala845Val,8/23,\N,Likely benign,\N,missense_variant,18.97,0.0000149943,EXAC_NFE_AF,ALMS1
444123,2:73676189:C>G,NM_015120.4:c.2532C>G,NP_055935.4:p.Asp846Glu,8/23,\N,Likely benign,\N,missense_variant,0.179,0.003,1KG_AFR_AF,ALMS1
444124,2:73676189:C>T,NM_015120.4:c.2532C>T,NP_055935.4:p.Asp846=,8/23,\N,Benign,\N,synonymous_variant,10.25,0.1324,1KG_AFR_AF,ALMS1
444125,2:73676190:G>A,NM_015120.4:c.2533G>A,NP_055935.4:p.Gly847Arg,8/23,\N,Likely benign,\N,missense_variant,0.062,0.0015,1KG_AFR_AF,ALMS1
444126,2:73676194:A>G,NM_015120.4:c.2537A>G,NP_055935.4:p.Lys848Arg,8/23,\N,Unknown significance,\N,missense_variant,7.311,0.000121566,EVS_EA_AF,ALMS1
444127,2:73676196:A>G,NM_015120.4:c.2539A>G,NP_055935.4:p.Thr849Ala,8/23,\N,Likely benign,\N,missense_variant,9.961,0.0000149934,EXAC_NFE_AF,ALMS1
444128,2:73676208:G>A,NM_015120.4:c.2551G>A,NP_055935.4:p.Ala853Thr,8/23,\N,Likely benign,\N,missense_variant,0.004,0.0000149943,EXAC_NFE_AF,ALMS1
444129,2:73676209:C>T,NM_015120.4:c.2552C>T,NP_055935.4:p.Ala853Val,8/23,\N,Likely benign,\N,missense_variant,17.11,0.000116171,EXAC_EAS_AF,ALMS1
444130,2:73676224:C>T,NM_015120.4:c.2567C>T,NP_055935.4:p.Ser858Phe,8/23,\N,Likely benign,\N,missense_variant,13.21,0.0008,1KG_AFR_AF,ALMS1
444131,2:73676230:C>T,NM_015120.4:c.2573C>T,NP_055935.4:p.Ala860Val,8/23,\N,Likely benign,\N,missense_variant,0.948,0.0000149952,EXAC_NFE_AF,ALMS1
444132,2:73676231:G>A,NM_015120.4:c.2574G>A,NP_055935.4:p.Ala860=,8/23,\N,Unknown significance,\N,synonymous_variant,9.117,0.0000605694,EXAC_SAS_AF,ALMS1
444133,2:73676231:G>C,NM_015120.4:c.2574G>C,NP_055935.4:p.Ala860=,8/23,\N,Unknown significance,\N,synonymous_variant,6.801,0.001,1KG_SAS_AF,ALMS1
444134,2:73676240:A>G,NM_015120.4:c.2583A>G,NP_055935.4:p.Ser863=,8/23,\N,Unknown significance,\N,synonymous_variant,1.275,0.0000871232,EXAC_AMR_AF,ALMS1
444135,2:73676241:C>T,NM_015120.4:c.2584C>T,NP_055935.4:p.Leu864Phe,8/23,\N,Likely benign,\N,missense_variant,22.9,0.0000149943,EXAC_NFE_AF,ALMS1
444136,2:73676242:T>C,NM_015120.4:c.2585T>C,NP_055935.4:p.Leu864Pro,8/23,\N,Likely benign,\N,missense_variant,0.113,0.000060584,EXAC_SAS_AF,ALMS1
444137,2:73676251:A>T,NM_015120.4:c.2594A>T,NP_055935.4:p.Lys867Met,8/23,\N,Likely benign,\N,missense_variant,22,\N,\N,ALMS1
444138,2:73676252:G>A,NM_015120.4:c.2595G>A,NP_055935.4:p.Lys867=,8/23,\N,Unknown significance,\N,synonymous_variant,7.961,0.000174155,EXAC_AMR_AF,ALMS1
444139,2:73676264:C>G,NM_015120.4:c.2607C>G,NP_055935.4:p.Phe871Leu,8/23,\N,Likely benign,\N,missense_variant,0.063,0.0000870171,EXAC_AMR_AF,ALMS1
444140,2:73676283:A>G,NM_015120.4:c.2626A>G,NP_055935.4:p.Asn878Asp,8/23,\N,Likely benign,\N,missense_variant,0.007,0.0000149957,EXAC_NFE_AF,ALMS1
444141,2:73676284:A>G,NM_015120.4:c.2627A>G,NP_055935.4:p.Asn878Ser,8/23,\N,Likely benign,\N,missense_variant,0.004,0.000060562,EXAC_SAS_AF,ALMS1
444142,2:73676311:A>C,NM_015120.4:c.2654A>C,NP_055935.4:p.Lys887Thr,8/23,\N,Likely benign,\N,missense_variant,14.27,0.0000899793,EXAC_NFE_AF,ALMS1
444143,2:73676312:A>G,NM_015120.4:c.2655A>G,NP_055935.4:p.Lys887=,8/23,\N,Benign,\N,synonymous_variant,0.028,0.0113,1KG_AFR_AF,ALMS1
444144,2:73676315:A>G,NM_015120.4:c.2658A>G,NP_055935.4:p.Val888=,8/23,\N,Benign,\N,synonymous_variant,2.492,0.028,1KG_AFR_AF,ALMS1
444145,2:73676317:C>A,NM_015120.4:c.2660C>A,NP_055935.4:p.Ser889Ter,8/23,\N,Unknown significance,\N,stop_gained,33,0.000116036,EXAC_EAS_AF,ALMS1
444146,2:73676319:A>G,NM_015120.4:c.2662A>G,NP_055935.4:p.Ile890Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0008,1KG_AFR_AF,ALMS1
444147,2:73676325:C>T,NM_015120.4:c.2668C>T,NP_055935.4:p.Pro892Ser,8/23,\N,Likely benign,\N,missense_variant,3.093,0.000121832,EVS_EA_AF,ALMS1
444148,2:73676326:C>T,NM_015120.4:c.2669C>T,NP_055935.4:p.Pro892Leu,8/23,\N,Likely benign,\N,missense_variant,24.4,0.0000867604,EXAC_AMR_AF,ALMS1
444149,2:73676330:A>G,NM_015120.4:c.2673A>G,NP_055935.4:p.Gly893=,8/23,\N,Unknown significance,\N,synonymous_variant,2.266,0.000030012,EXAC_NFE_AF,ALMS1
444150,2:73676333:A>G,NM_015120.4:c.2676A>G,NP_055935.4:p.Pro894=,8/23,\N,Unknown significance,\N,synonymous_variant,0.033,\N,\N,ALMS1
444151,2:73676334:G>T,NM_015120.4:c.2677G>T,NP_055935.4:p.Gly895Cys,8/23,\N,Likely benign,\N,missense_variant,22.9,0.000121951,EVS_EA_AF,ALMS1
444152,2:73676335:GTGA>G,NM_015120.4:c.2680_2682del,NP_055935.4:p.Asp896del,8/23,\N,Unknown significance,\N,inframe_deletion,8.446,0.000102522,EXAC_AFR_AF,ALMS1
444153,2:73676337:G>A,NM_015120.4:c.2680G>A,NP_055935.4:p.Asp896Asn,8/23,\N,Likely benign,\N,missense_variant,19.77,0.0000450329,EXAC_NFE_AF,ALMS1
444154,2:73676340:C>G,NM_015120.4:c.2683C>G,NP_055935.4:p.Gln897Glu,8/23,\N,Likely benign,\N,missense_variant,7.401,0.00026738,EVS_AA_AF,ALMS1
444155,2:73676352:A>G,NM_015120.4:c.2695A>G,NP_055935.4:p.Ile901Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000150272,EXAC_NFE_AF,ALMS1
444156,2:73676354:A>C,NM_015120.4:c.2697A>C,NP_055935.4:p.Ile901=,8/23,\N,Unknown significance,\N,synonymous_variant,0.029,0.0000150304,EXAC_NFE_AF,ALMS1
444157,2:73676368:C>G,NM_015120.4:c.2711C>G,NP_055935.4:p.Ser906Cys,8/23,\N,Unknown significance,\N,missense_variant,23.2,\N,\N,ALMS1
444158,2:73676378:C>T,NM_015120.4:c.2721C>T,NP_055935.4:p.Tyr909=,8/23,\N,Unknown significance,\N,synonymous_variant,4.7,\N,\N,ALMS1
444159,2:73676379:T>C,NM_015120.4:c.2722T>C,NP_055935.4:p.Ser910Pro,8/23,\N,Likely benign,\N,missense_variant,12.38,0.000015053,EXAC_NFE_AF,ALMS1
444160,2:73676380:C>G,NM_015120.4:c.2723C>G,NP_055935.4:p.Ser910Ter,8/23,\N,Likely pathogenic,\N,stop_gained,32,\N,\N,ALMS1
444161,2:73676380:C>T,NM_015120.4:c.2723C>T,NP_055935.4:p.Ser910Leu,8/23,\N,Likely benign,\N,missense_variant,17.71,0.000303361,EXAC_SAS_AF,ALMS1
444162,2:73676382:C>A,NM_015120.4:c.2725C>A,NP_055935.4:p.His911Asn,8/23,\N,Likely benign,\N,missense_variant,4.261,0.0000150566,EXAC_NFE_AF,ALMS1
444163,2:73676383:A>G,NM_015120.4:c.2726A>G,NP_055935.4:p.His911Arg,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000150562,EXAC_NFE_AF,ALMS1
444164,2:73676384:C>T,NM_015120.4:c.2727C>T,NP_055935.4:p.His911=,8/23,\N,Benign,\N,synonymous_variant,3.292,0.0113,1KG_AFR_AF,ALMS1
444165,2:73676393:G>C,NM_015120.4:c.2736G>C,NP_055935.4:p.Lys914Asn,8/23,\N,Likely benign,\N,missense_variant,10.51,0.000271444,EVS_AA_AF,ALMS1
444166,2:73676395:C>A,NM_015120.4:c.2738C>A,NP_055935.4:p.Pro915His,8/23,\N,Unknown significance,\N,missense_variant,23.2,0.000122519,EVS_EA_AF,ALMS1
444167,2:73676397:A>G,NM_015120.4:c.2740A>G,NP_055935.4:p.Ile916Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0008,1KG_AFR_AF,ALMS1
444168,2:73676407:C>G,NM_015120.4:c.2750C>G,NP_055935.4:p.Ser919Cys,8/23,\N,Unknown significance,\N,missense_variant,13.44,0.000272331,EVS_AA_AF,ALMS1
444169,2:73676410:A>C,NM_015120.4:c.2753A>C,NP_055935.4:p.Gln920Pro,8/23,\N,Likely benign,\N,missense_variant,1.067,0.0000150775,EXAC_NFE_AF,ALMS1
444170,2:73676412:C>T,NM_015120.4:c.2755C>T,NP_055935.4:p.Gln921Ter,8/23,\N,Likely benign,Cardiomyopathy,stop_gained,34,\N,\N,ALMS1
444171,2:73676418:C>G,NM_015120.4:c.2761C>G,NP_055935.4:p.Leu923Val,8/23,\N,Likely benign,\N,missense_variant,16.58,0.0000606943,EXAC_SAS_AF,ALMS1
444172,2:73676418:C>T,NM_015120.4:c.2761C>T,NP_055935.4:p.Leu923=,8/23,\N,Benign,\N,synonymous_variant,7.642,0.0212,1KG_AFR_AF,ALMS1
444173,2:73676453:G>A,NM_015120.4:c.2796G>A,NP_055935.4:p.Lys934=,8/23,\N,Unknown significance,\N,synonymous_variant,8.192,0.0000150843,EXAC_NFE_AF,ALMS1
444174,2:73676463:G>C,NM_015120.4:c.2806G>C,NP_055935.4:p.Val938Leu,8/23,\N,Likely benign,\N,missense_variant,4.735,0.0000606575,EXAC_SAS_AF,ALMS1
444175,2:73676466:T>G,NM_015120.4:c.2809T>G,NP_055935.4:p.Ser939Ala,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000869716,EXAC_AMR_AF,ALMS1
444176,2:73676471:A>G,NM_015120.4:c.2814A>G,NP_055935.4:p.Val940=,8/23,\N,Unknown significance,\N,synonymous_variant,6.933,0.000121832,EVS_EA_AF,ALMS1
444177,2:73676473:T>A,NM_015120.4:c.2816T>A,NP_055935.4:p.Leu941Ter,8/23,\N,Unknown significance,\N,stop_gained,24.8,0.0000606575,EXAC_SAS_AF,ALMS1
444178,2:73676483:G>C,NM_015120.4:c.2826G>C,NP_055935.4:p.Gln944His,8/23,\N,Unknown significance,\N,missense_variant,14.34,0.0000150648,EXAC_NFE_AF,ALMS1
444179,2:73676494:C>T,NM_015120.4:c.2837C>T,NP_055935.4:p.Thr948Ile,8/23,\N,Likely benign,\N,missense_variant,0.003,0.001,1KG_EAS_AF,ALMS1
444180,2:73676496:C>A,NM_015120.4:c.2839C>A,NP_055935.4:p.Pro949Thr,8/23,\N,Likely benign,\N,missense_variant,18.33,0.0000150607,EXAC_NFE_AF,ALMS1
444181,2:73676501:A>G,NM_015120.4:c.2844A>G,NP_055935.4:p.Thr950=,8/23,\N,Unknown significance,\N,synonymous_variant,0.009,\N,\N,ALMS1
444182,2:73676502:G>A,NM_015120.4:c.2845G>A,NP_055935.4:p.Val951Met,8/23,\N,Unknown significance,\N,missense_variant,22.8,0.000103178,EXAC_AFR_AF,ALMS1
444183,2:73676502:G>T,NM_015120.4:c.2845G>T,NP_055935.4:p.Val951Leu,8/23,\N,Unknown significance,\N,missense_variant,7.078,0.000270124,EVS_AA_AF,ALMS1
444184,2:73676503:T>C,NM_015120.4:c.2846T>C,NP_055935.4:p.Val951Ala,8/23,\N,Likely benign,\N,missense_variant,3.281,0.000121862,EVS_EA_AF,ALMS1
444185,2:73676504:G>A,NM_015120.4:c.2847G>A,NP_055935.4:p.Val951=,8/23,\N,Unknown significance,\N,synonymous_variant,5.238,0.0000752989,EXAC_NFE_AF,ALMS1
444186,2:73676515:C>G,NM_015120.4:c.2858C>G,NP_055935.4:p.Ser955Cys,8/23,\N,Likely benign,\N,missense_variant,21.9,0.000151378,EXAC_FIN_AF,ALMS1
444187,2:73676517:C>G,NM_015120.4:c.2860C>G,NP_055935.4:p.His956Asp,8/23,\N,Likely benign,\N,missense_variant,0.006,\N,\N,ALMS1
444188,2:73676523:C>T,NM_015120.4:c.2866C>T,NP_055935.4:p.His958Tyr,8/23,\N,Likely benign,\N,missense_variant,0.108,\N,\N,ALMS1
444189,2:73676528:C>T,NM_015120.4:c.2871C>T,NP_055935.4:p.Ser959=,8/23,\N,Unknown significance,\N,synonymous_variant,11.65,0.0008,1KG_AFR_AF,ALMS1
444190,2:73676529:G>A,NM_015120.4:c.2872G>A,NP_055935.4:p.Glu960Lys,8/23,\N,Unknown significance,\N,missense_variant,22,0.0000150639,EXAC_NFE_AF,ALMS1
444191,2:73676535:T>A,NM_015120.4:c.2878T>A,NP_055935.4:p.Ser962Thr,8/23,\N,Likely benign,\N,missense_variant,8.977,0.0000301296,EXAC_NFE_AF,ALMS1
444192,2:73676538:A>T,NM_015120.4:c.2881A>T,NP_055935.4:p.Ser963Cys,8/23,\N,Likely benign,\N,missense_variant,18.21,\N,\N,ALMS1
444193,2:73676539:G>T,NM_015120.4:c.2882G>T,NP_055935.4:p.Ser963Ile,8/23,\N,Likely benign,\N,missense_variant,10.94,\N,\N,ALMS1
444194,2:73676541:G>T,NM_015120.4:c.2884G>T,NP_055935.4:p.Val964Phe,8/23,\N,Likely benign,\N,missense_variant,11.19,0.0000607165,EXAC_SAS_AF,ALMS1
444195,2:73676547:T>C,NM_015120.4:c.2890T>C,NP_055935.4:p.Tyr966His,8/23,\N,Likely benign,\N,missense_variant,3.956,0.000242895,EVS_EA_AF,ALMS1
444196,2:73676550:C>G,NM_015120.4:c.2893C>G,NP_055935.4:p.Gln967Glu,8/23,\N,Likely benign,\N,missense_variant,0.711,0.0000150639,EXAC_NFE_AF,ALMS1
444197,2:73676556:G>C,NM_015120.4:c.2899G>C,NP_055935.4:p.Glu969Gln,8/23,\N,Likely benign,\N,missense_variant,12.31,0.0000150648,EXAC_NFE_AF,ALMS1
444198,2:73676576:A>G,NM_015120.4:c.2919A>G,NP_055935.4:p.Leu975=,8/23,\N,Unknown significance,\N,synonymous_variant,11.34,0.0000607238,EXAC_SAS_AF,ALMS1
444199,2:73676576:A>T,NM_015120.4:c.2919A>T,NP_055935.4:p.Leu975=,8/23,\N,Unknown significance,\N,synonymous_variant,7.326,0.0014,1KG_AMR_AF,ALMS1
444200,2:73676579:T>C,NM_015120.4:c.2922T>C,NP_055935.4:p.Pro976=,8/23,\N,Unknown significance,\N,synonymous_variant,0.691,0.000425118,EXAC_SAS_AF,ALMS1
444201,2:73676597:G>A,NM_015120.4:c.2940G>A,NP_055935.4:p.Met982Ile,8/23,\N,Likely benign,\N,missense_variant,0.007,0.0000150739,EXAC_NFE_AF,ALMS1
444202,2:73676604:A>G,NM_015120.4:c.2947A>G,NP_055935.4:p.Ile985Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000869263,EXAC_AMR_AF,ALMS1
444203,2:73676615:G>A,NM_015120.4:c.2958G>A,NP_055935.4:p.Leu988=,8/23,\N,Unknown significance,\N,synonymous_variant,5.796,0.000434556,EXAC_AMR_AF,ALMS1
444204,2:73676617:C>G,NM_015120.4:c.2960C>G,NP_055935.4:p.Thr989Ser,8/23,\N,Likely benign,\N,missense_variant,4.261,0.0000607386,EXAC_SAS_AF,ALMS1
444205,2:73676623:A>G,NM_015120.4:c.2966A>G,NP_055935.4:p.Gln991Arg,8/23,\N,Likely benign,\N,missense_variant,9.634,0.000135636,EXAC_NFE_AF,ALMS1
444206,2:73676629:C>G,NM_015120.4:c.2972C>G,NP_055935.4:p.Thr993Ser,8/23,\N,Likely benign,\N,missense_variant,4.664,0.0000150693,EXAC_NFE_AF,ALMS1
444207,2:73676634:C>T,NM_015120.4:c.2977C>T,NP_055935.4:p.Pro995Ser,8/23,\N,Likely benign,\N,missense_variant,0.094,0.0000607238,EXAC_SAS_AF,ALMS1
444208,2:73676637:A>G,NM_015120.4:c.2980A>G,NP_055935.4:p.Thr996Ala,8/23,\N,Likely benign,\N,missense_variant,1.212,\N,\N,ALMS1
444209,2:73676645:A>G,NM_015120.4:c.2988A>G,NP_055935.4:p.Thr998=,8/23,\N,Unknown significance,\N,synonymous_variant,0.008,0.0000150702,EXAC_NFE_AF,ALMS1
444210,2:73676646:G>A,NM_015120.4:c.2989G>A,NP_055935.4:p.Val999Ile,8/23,\N,Likely benign,\N,missense_variant,0.588,0.000121892,EVS_EA_AF,ALMS1
444211,2:73676646:GTACC>G,NM_015120.4:c.2991_2994del,NP_055935.4:p.Pro1000GlnfsTer28,8/23,\N,Unknown significance,\N,frameshift_variant,24.4,0.000182127,EXAC_SAS_AF,ALMS1
444212,2:73676655:G>A,NM_015120.4:c.2998G>A,NP_055935.4:p.Gly1002Ser,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000174155,EXAC_AMR_AF,ALMS1
444213,2:73676656:G>T,NM_015120.4:c.2999G>T,NP_055935.4:p.Gly1002Val,8/23,\N,Likely benign,\N,missense_variant,8.796,0.0000150657,EXAC_NFE_AF,ALMS1
444214,2:73676669:T>TA,NM_015120.4:c.3013dup,NP_055935.4:p.Arg1007LysfsTer15,8/23,\N,Unknown significance,\N,frameshift_variant,18.44,0.000103135,EXAC_AFR_AF,ALMS1
444215,2:73676671:G>T,NM_015120.4:c.3014G>T,NP_055935.4:p.Arg1007Ile,8/23,\N,Likely benign,\N,missense_variant,22.9,0.000121892,EVS_EA_AF,ALMS1
444216,2:73676679:C>T,NM_015120.4:c.3022C>T,NP_055935.4:p.Pro1010Ser,8/23,\N,Likely benign,\N,missense_variant,16.43,0.0000150516,EXAC_NFE_AF,ALMS1
444217,2:73676685:A>G,NM_015120.4:c.3028A>G,NP_055935.4:p.Ile1012Val,8/23,\N,Likely benign,\N,missense_variant,0.007,0.0000870474,EXAC_AMR_AF,ALMS1
444218,2:73676692:A>G,NM_015120.4:c.3035A>G,NP_055935.4:p.Tyr1014Cys,8/23,\N,Likely benign,\N,missense_variant,10.74,0.000542888,EVS_AA_AF,ALMS1
444219,2:73676702:G>A,NM_015120.4:c.3045G>A,NP_055935.4:p.Glu1017=,8/23,\N,Unknown significance,\N,synonymous_variant,0.096,\N,\N,ALMS1
444220,2:73676706:C>G,NM_015120.4:c.3049C>G,NP_055935.4:p.Pro1019Ala,8/23,\N,Unknown significance,\N,missense_variant,17.38,0.00011636,EXAC_EAS_AF,ALMS1
444221,2:73676716:A>T,NM_015120.4:c.3059A>T,NP_055935.4:p.Tyr1022Phe,8/23,\N,Likely benign,\N,missense_variant,0.237,0.0008,1KG_AFR_AF,ALMS1
444222,2:73676717:T>C,NM_015120.4:c.3060T>C,NP_055935.4:p.Tyr1022=,8/23,\N,Unknown significance,\N,synonymous_variant,0.003,0.0008,1KG_AFR_AF,ALMS1
444223,2:73676730:G>C,NM_015120.4:c.3073G>C,NP_055935.4:p.Ala1027Pro,8/23,\N,Likely benign,\N,missense_variant,12.23,0.0000750458,EXAC_NFE_AF,ALMS1
444224,2:73676732:T>C,NM_015120.4:c.3075T>C,NP_055935.4:p.Ala1027=,8/23,\N,Unknown significance,\N,synonymous_variant,0.156,0.0000606134,EXAC_SAS_AF,ALMS1
444225,2:73676745:A>G,NM_015120.4:c.3088A>G,NP_055935.4:p.Thr1032Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.001,1KG_EUR_AF,ALMS1
444226,2:73676746:C>G,NM_015120.4:c.3089C>G,NP_055935.4:p.Thr1032Ser,8/23,\N,Unknown significance,\N,missense_variant,0.15,0.000852204,EVS_EA_AF,ALMS1
444227,2:73676750:C>A,NM_015120.4:c.3093C>A,NP_055935.4:p.Gly1033=,8/23,\N,Unknown significance,\N,synonymous_variant,11.17,0.000269833,EVS_AA_AF,ALMS1
444228,2:73676757:C>T,NM_015120.4:c.3100C>T,NP_055935.4:p.Pro1036Ser,8/23,\N,Likely benign,\N,missense_variant,8.46,0.0014,1KG_AMR_AF,ALMS1
444229,2:73676769:A>G,NM_015120.4:c.3112A>G,NP_055935.4:p.Lys1040Glu,8/23,\N,Unknown significance,\N,missense_variant,24.5,0.000102208,EXAC_AFR_AF,ALMS1
444230,2:73676771:G>A,NM_015120.4:c.3114G>A,NP_055935.4:p.Lys1040=,8/23,\N,Unknown significance,\N,synonymous_variant,10.36,0.000060584,EXAC_SAS_AF,ALMS1
444231,2:73676774:T>A,NM_015120.4:c.3117T>A,NP_055935.4:p.Thr1041=,8/23,\N,Unknown significance,\N,synonymous_variant,10.05,0.000267953,EVS_AA_AF,ALMS1
444232,2:73676781:C>A,NM_015120.4:c.3124C>A,NP_055935.4:p.Pro1044Thr,8/23,\N,Likely benign,\N,missense_variant,19.75,0.0000299868,EXAC_NFE_AF,ALMS1
444233,2:73676781:C>T,NM_015120.4:c.3124C>T,NP_055935.4:p.Pro1044Ser,8/23,\N,Likely benign,\N,missense_variant,4.878,0.000532765,EVS_AA_AF,ALMS1
444234,2:73676782:C>T,NM_015120.4:c.3125C>T,NP_055935.4:p.Pro1044Leu,8/23,\N,Likely benign,\N,missense_variant,23.4,0.000014993,EXAC_NFE_AF,ALMS1
444235,2:73676788:T>A,NM_015120.4:c.3131T>A,NP_055935.4:p.Val1046Glu,8/23,\N,Likely benign,\N,missense_variant,17.21,\N,\N,ALMS1
444236,2:73676791:A>T,NM_015120.4:c.3134A>T,NP_055935.4:p.Gln1047Leu,8/23,\N,Likely benign,\N,missense_variant,0.011,0.0000149912,EXAC_NFE_AF,ALMS1
444237,2:73676797:G>A,NM_015120.4:c.3140G>A,NP_055935.4:p.Ser1049Asn,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000149921,EXAC_NFE_AF,ALMS1
444238,2:73676797:G>T,NM_015120.4:c.3140G>T,NP_055935.4:p.Ser1049Ile,8/23,\N,Likely benign,\N,missense_variant,0.005,0.0031,1KG_SAS_AF,ALMS1
444239,2:73676802:T>A,NM_015120.4:c.3145T>A,NP_055935.4:p.Tyr1051Asn,8/23,\N,Likely benign,\N,missense_variant,23.1,0.0000149907,EXAC_NFE_AF,ALMS1
444240,2:73676805:C>G,NM_015120.4:c.3148C>G,NP_055935.4:p.Pro1052Ala,8/23,\N,Likely benign,\N,missense_variant,0.035,\N,\N,ALMS1
444241,2:73676817:A>G,NM_015120.4:c.3160A>G,NP_055935.4:p.Lys1056Glu,8/23,\N,Unknown significance,\N,missense_variant,16.1,0.000060584,EXAC_SAS_AF,ALMS1
444242,2:73676823:A>G,NM_015120.4:c.3166A>G,NP_055935.4:p.Ser1058Gly,8/23,\N,Likely benign,\N,missense_variant,0.019,0.0000149912,EXAC_NFE_AF,ALMS1
444243,2:73676824:G>C,NM_015120.4:c.3167G>C,NP_055935.4:p.Ser1058Thr,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000115955,EXAC_EAS_AF,ALMS1
444244,2:73676831:G>A,NM_015120.4:c.3174G>A,NP_055935.4:p.Leu1060=,8/23,\N,Unknown significance,\N,synonymous_variant,0.374,0.0000299814,EXAC_NFE_AF,ALMS1
444245,2:73676831:G>C,NM_015120.4:c.3174G>C,NP_055935.4:p.Leu1060Phe,8/23,\N,Likely benign,\N,missense_variant,0.001,0.000060584,EXAC_SAS_AF,ALMS1
444246,2:73676833:A>G,NM_015120.4:c.3176A>G,NP_055935.4:p.Tyr1061Cys,8/23,\N,Unknown significance,\N,missense_variant,22.5,\N,\N,ALMS1
444247,2:73676835:C>T,NM_015120.4:c.3178C>T,NP_055935.4:p.Pro1062Ser,8/23,\N,Likely benign,\N,missense_variant,6.797,0.0000149912,EXAC_NFE_AF,ALMS1
444248,2:73676839:A>C,NM_015120.4:c.3182A>C,NP_055935.4:p.Gln1063Pro,8/23,\N,Unknown significance,\N,missense_variant,10.49,\N,\N,ALMS1
444249,2:73676839:A>G,NM_015120.4:c.3182A>G,NP_055935.4:p.Gln1063Arg,8/23,\N,Unknown significance,\N,missense_variant,22,0.0000149903,EXAC_NFE_AF,ALMS1
444250,2:73676847:T>C,NM_015120.4:c.3190T>C,NP_055935.4:p.Ser1066Pro,8/23,\N,Benign,\N,missense_variant,0.002,0.0182,1KG_AFR_AF,ALMS1
444251,2:73676856:C>T,NM_015120.4:c.3199C>T,NP_055935.4:p.His1069Tyr,8/23,\N,Likely benign,\N,missense_variant,21.6,0.0000299805,EXAC_NFE_AF,ALMS1
444252,2:73676870:G>C,NM_015120.4:c.3213G>C,NP_055935.4:p.Glu1073Asp,8/23,\N,Likely benign,\N,missense_variant,13.11,0.0000149912,EXAC_NFE_AF,ALMS1
444253,2:73676880:G>A,NM_015120.4:c.3223G>A,NP_055935.4:p.Val1077Ile,8/23,\N,Likely benign,\N,missense_variant,2.623,0.000116009,EXAC_EAS_AF,ALMS1
444254,2:73676888:C>G,NM_015120.4:c.3231C>G,NP_055935.4:p.Ala1079=,8/23,\N,Unknown significance,\N,synonymous_variant,8.252,0.0000150002,EXAC_NFE_AF,ALMS1
444255,2:73676891:C>T,NM_015120.4:c.3234C>T,NP_055935.4:p.Phe1080=,8/23,\N,Unknown significance,\N,synonymous_variant,9.651,0.0000866251,EXAC_AMR_AF,ALMS1
444256,2:73676895:GGACCAGCT>G,NM_015120.4:c.3245_3252del,NP_055935.4:p.Ala1084AspfsTer3,8/23,\N,Unknown significance,\N,frameshift_variant,25.2,\N,\N,ALMS1
444257,2:73676900:A>G,NM_015120.4:c.3243A>G,NP_055935.4:p.Pro1083=,8/23,\N,Unknown significance,\N,synonymous_variant,0.826,0.002,1KG_SAS_AF,ALMS1
444258,2:73676907:C>T,NM_015120.4:c.3250C>T,NP_055935.4:p.Gln1086Ter,8/23,\N,Unknown significance,\N,stop_gained,35,0.000115982,EXAC_EAS_AF,ALMS1
444259,2:73676909:G>C,NM_015120.4:c.3252G>C,NP_055935.4:p.Gln1086His,8/23,\N,Likely benign,\N,missense_variant,22.9,0.000121065,EVS_EA_AF,ALMS1
444260,2:73676909:G>T,NM_015120.4:c.3252G>T,NP_055935.4:p.Gln1086His,8/23,\N,Likely benign,\N,missense_variant,23,0.002,1KG_EAS_AF,ALMS1
444261,2:73676920:C>G,NM_015120.4:c.3263C>G,NP_055935.4:p.Thr1090Arg,8/23,\N,Likely benign,\N,missense_variant,19.2,0.00296934,EXAC_SAS_AF,ALMS1
444262,2:73676921:A>G,NM_015120.4:c.3264A>G,NP_055935.4:p.Thr1090=,8/23,\N,Unknown significance,\N,synonymous_variant,0.057,0.0000300336,EXAC_NFE_AF,ALMS1
444263,2:73676922:C>G,NM_015120.4:c.3265C>G,NP_055935.4:p.Pro1091Ala,8/23,\N,Likely benign,\N,missense_variant,5.603,0.000121183,EVS_EA_AF,ALMS1
444264,2:73676932:C>T,NM_015120.4:c.3275C>T,NP_055935.4:p.Pro1094Leu,8/23,\N,Likely benign,\N,missense_variant,12.93,0.00155925,EXAC_AMR_AF,ALMS1
444265,2:73676933:G>A,NM_015120.4:c.3276G>A,NP_055935.4:p.Pro1094=,8/23,\N,Unknown significance,\N,synonymous_variant,6.644,\N,\N,ALMS1
444266,2:73676941:T>C,NM_015120.4:c.3284T>C,NP_055935.4:p.Phe1097Ser,8/23,\N,Likely benign,\N,missense_variant,0.012,0.00011609,EXAC_EAS_AF,ALMS1
444267,2:73676944:A>G,NM_015120.4:c.3287A>G,NP_055935.4:p.Tyr1098Cys,8/23,\N,Likely benign,\N,missense_variant,22.3,0.0045,1KG_AFR_AF,ALMS1
444268,2:73676949:C>A,NM_015120.4:c.3292C>A,NP_055935.4:p.Gln1100Lys,8/23,\N,Likely benign,\N,missense_variant,7.305,0.0010303,EXAC_SAS_AF,ALMS1
444269,2:73676951:A>G,NM_015120.4:c.3294A>G,NP_055935.4:p.Gln1100=,8/23,\N,Unknown significance,\N,synonymous_variant,0.018,0.000103327,EXAC_AFR_AF,ALMS1
444270,2:73676955:G>C,NM_015120.4:c.3298G>C,NP_055935.4:p.Glu1102Gln,8/23,\N,Unknown significance,\N,missense_variant,17.72,0.0000865801,EXAC_AMR_AF,ALMS1
444271,2:73676959:A>C,NM_015120.4:c.3302A>C,NP_055935.4:p.Lys1103Thr,8/23,\N,Likely benign,\N,missense_variant,22.7,0.0029,1KG_AMR_AF,ALMS1
444272,2:73676959:A>G,NM_015120.4:c.3302A>G,NP_055935.4:p.Lys1103Arg,8/23,\N,Likely benign,\N,missense_variant,13.34,\N,\N,ALMS1
444273,2:73676961:C>G,NM_015120.4:c.3304C>G,NP_055935.4:p.Pro1104Ala,8/23,\N,Likely benign,\N,missense_variant,20.5,0.00111111,EXAC_OTH_AF,ALMS1
444274,2:73676963:T>A,NM_015120.4:c.3306T>A,NP_055935.4:p.Pro1104=,8/23,\N,Unknown significance,\N,synonymous_variant,6.383,0.0000867754,EXAC_AMR_AF,ALMS1
444275,2:73676965:G>A,NM_015120.4:c.3308G>A,NP_055935.4:p.Gly1105Asp,8/23,\N,Likely benign,\N,missense_variant,0.001,0.00362867,EXAC_FIN_AF,ALMS1
444276,2:73676973:T>C,NM_015120.4:c.3316T>C,NP_055935.4:p.Tyr1108His,8/23,\N,Likely benign,\N,missense_variant,9.119,0.0000300598,EXAC_NFE_AF,ALMS1
444277,2:73676977:A>C,NM_015120.4:c.3320A>C,NP_055935.4:p.Gln1109Pro,8/23,\N,Likely benign,\N,missense_variant,0.009,0.0014,1KG_AMR_AF,ALMS1
444278,2:73676978:A>G,NM_015120.4:c.3321A>G,NP_055935.4:p.Gln1109=,8/23,\N,Unknown significance,\N,synonymous_variant,0.142,0.000116009,EXAC_EAS_AF,ALMS1
444279,2:73676984:C>T,NM_015120.4:c.3327C>T,NP_055935.4:p.Thr1111=,8/23,\N,Unknown significance,\N,synonymous_variant,10.16,0.0000605987,EXAC_SAS_AF,ALMS1
444280,2:73676989:C>T,NM_015120.4:c.3332C>T,NP_055935.4:p.Pro1113Leu,8/23,\N,Likely benign,\N,missense_variant,19.59,0.0000150245,EXAC_NFE_AF,ALMS1
444281,2:73676990:A>G,NM_015120.4:c.3333A>G,NP_055935.4:p.Pro1113=,8/23,\N,Unknown significance,\N,synonymous_variant,1.06,0.000206313,EXAC_AFR_AF,ALMS1
444282,2:73676996:T>G,NM_015120.4:c.3339T>G,NP_055935.4:p.Ser1115Arg,8/23,\N,Likely benign,\N,missense_variant,23.1,0.0000605914,EXAC_SAS_AF,ALMS1
444283,2:73677006:A>G,NM_015120.4:c.3349A>G,NP_055935.4:p.Lys1119Glu,8/23,\N,Likely benign,\N,missense_variant,0.004,0.0000150182,EXAC_NFE_AF,ALMS1
444284,2:73677009:G>T,NM_015120.4:c.3352G>T,NP_055935.4:p.Glu1120Ter,8/23,\N,Unknown significance,\N,stop_gained,35,0.000015015,EXAC_NFE_AF,ALMS1
444285,2:73677012:G>T,NM_015120.4:c.3355G>T,NP_055935.4:p.Ala1121Ser,8/23,\N,Likely benign,\N,missense_variant,22.9,0.0000605914,EXAC_SAS_AF,ALMS1
444286,2:73677025:C>T,NM_015120.4:c.3368C>T,NP_055935.4:p.Ser1125Leu,8/23,\N,Likely benign,\N,missense_variant,8.887,\N,\N,ALMS1
444287,2:73677029:A>G,NM_015120.4:c.3372A>G,NP_055935.4:p.Val1126=,8/23,\N,Unknown significance,\N,synonymous_variant,1.297,0.0023,1KG_AFR_AF,ALMS1
444288,2:73677033:C>T,NM_015120.4:c.3376C>T,NP_055935.4:p.Pro1128Ser,8/23,\N,Likely benign,\N,missense_variant,4.022,0.0015,1KG_AFR_AF,ALMS1
444289,2:73677044:A>G,NM_015120.4:c.3387A>G,NP_055935.4:p.Ala1131=,8/23,\N,Unknown significance,\N,synonymous_variant,0.794,\N,\N,ALMS1
444290,2:73677049:A>G,NM_015120.4:c.3392A>G,NP_055935.4:p.Gln1133Arg,8/23,\N,Likely benign,\N,missense_variant,0.078,0.000485673,EVS_EA_AF,ALMS1
444291,2:73677053:G>A,NM_015120.4:c.3396G>A,NP_055935.4:p.Lys1134=,8/23,\N,Unknown significance,\N,synonymous_variant,8.001,0.00111111,EXAC_OTH_AF,ALMS1
444292,2:73677055:C>A,NM_015120.4:c.3398C>A,NP_055935.4:p.Thr1135Asn,8/23,\N,Unknown significance,\N,missense_variant,13.84,0.00012133,EVS_EA_AF,ALMS1
444293,2:73677061:C>T,NM_015120.4:c.3404C>T,NP_055935.4:p.Thr1137Ile,8/23,\N,Likely benign,\N,missense_variant,2.997,0.0000899631,EXAC_NFE_AF,ALMS1
444294,2:73677062:A>G,NM_015120.4:c.3405A>G,NP_055935.4:p.Thr1137=,8/23,\N,Unknown significance,\N,synonymous_variant,0.076,0.0000299886,EXAC_NFE_AF,ALMS1
444295,2:73677066:A>G,NM_015120.4:c.3409A>G,NP_055935.4:p.Thr1139Ala,8/23,\N,Likely benign,\N,missense_variant,0.077,0.000119947,EXAC_NFE_AF,ALMS1
444296,2:73677073:C>T,NM_015120.4:c.3416C>T,NP_055935.4:p.Thr1141Ile,8/23,\N,Likely benign,\N,missense_variant,12.61,0.0000149939,EXAC_NFE_AF,ALMS1
444297,2:73677076:C>G,NM_015120.4:c.3419C>G,NP_055935.4:p.Ser1142Ter,8/23,\N,Unknown significance,\N,stop_gained,35,0.000014993,EXAC_NFE_AF,ALMS1
444298,2:73677079:C>T,NM_015120.4:c.3422C>T,NP_055935.4:p.Thr1143Ile,8/23,\N,Unknown significance,\N,missense_variant,16.47,0.001,1KG_EAS_AF,ALMS1
444299,2:73677085:A>T,NM_015120.4:c.3428A>T,NP_055935.4:p.Tyr1145Phe,8/23,\N,Likely benign,\N,missense_variant,0.031,0.000181774,EXAC_SAS_AF,ALMS1
444300,2:73677086:C>T,NM_015120.4:c.3429C>T,NP_055935.4:p.Tyr1145=,8/23,\N,Unknown significance,\N,synonymous_variant,3.381,0.000102229,EXAC_AFR_AF,ALMS1
444301,2:73677088:C>T,NM_015120.4:c.3431C>T,NP_055935.4:p.Ser1146Leu,8/23,\N,Unknown significance,\N,missense_variant,20.2,0.0000149925,EXAC_NFE_AF,ALMS1
444302,2:73677098:A>G,NM_015120.4:c.3441A>G,NP_055935.4:p.Arg1149=,8/23,\N,Unknown significance,\N,synonymous_variant,0.142,0.0008,1KG_AFR_AF,ALMS1
444303,2:73677104:G>A,NM_015120.4:c.3447G>A,NP_055935.4:p.Lys1151=,8/23,\N,Unknown significance,\N,synonymous_variant,9.297,0.000121773,EVS_EA_AF,ALMS1
444304,2:73677109:G>A,NM_015120.4:c.3452G>A,NP_055935.4:p.Ser1153Asn,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000149907,EXAC_NFE_AF,ALMS1
444305,2:73677118:A>C,NM_015120.4:c.3461A>C,NP_055935.4:p.His1156Pro,8/23,\N,Likely benign,\N,missense_variant,12.77,0.0008,1KG_AFR_AF,ALMS1
444306,2:73677122:G>A,NM_015120.4:c.3465G>A,NP_055935.4:p.Gln1157=,8/23,\N,Unknown significance,\N,synonymous_variant,0.106,0.000122041,EVS_EA_AF,ALMS1
444307,2:73677126:G>C,NM_015120.4:c.3469G>C,NP_055935.4:p.Ala1159Pro,8/23,\N,Likely benign,\N,missense_variant,17.61,\N,\N,ALMS1
444308,2:73677127:C>G,NM_015120.4:c.3470C>G,NP_055935.4:p.Ala1159Gly,8/23,\N,Likely benign,\N,missense_variant,5.403,0.000231857,EXAC_EAS_AF,ALMS1
444309,2:73677131:G>T,NM_015120.4:c.3474G>T,NP_055935.4:p.Leu1160Phe,8/23,\N,Likely benign,\N,missense_variant,19.13,0.000787592,EXAC_SAS_AF,ALMS1
444310,2:73677138:A>G,NM_015120.4:c.3481A>G,NP_055935.4:p.Thr1163Ala,8/23,\N,Unknown significance,\N,missense_variant,0.87,0.000102187,EXAC_AFR_AF,ALMS1
444311,2:73677142:A>T,NM_015120.4:c.3485A>T,NP_055935.4:p.His1164Leu,8/23,\N,Likely benign,\N,missense_variant,10.2,0.0000149903,EXAC_NFE_AF,ALMS1
444312,2:73677144:A>G,NM_015120.4:c.3487A>G,NP_055935.4:p.Ile1165Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.000927644,EXAC_EAS_AF,ALMS1
444313,2:73677147:C>T,NM_015120.4:c.3490C>T,NP_055935.4:p.Pro1166Ser,8/23,\N,Likely benign,\N,missense_variant,0.274,0.00164303,EXAC_AMR_AF,ALMS1
444314,2:73677162:A>G,NM_015120.4:c.3505A>G,NP_055935.4:p.Lys1171Glu,8/23,\N,Likely benign,\N,missense_variant,2.835,0.000242277,EXAC_SAS_AF,ALMS1
444315,2:73677168:T>A,NM_015120.4:c.3511T>A,NP_055935.4:p.Ser1173Thr,8/23,\N,Likely benign,\N,missense_variant,19.69,0.000102103,EXAC_AFR_AF,ALMS1
444316,2:73677171:G>C,NM_015120.4:c.3514G>C,NP_055935.4:p.Ala1174Pro,8/23,\N,Likely benign,\N,missense_variant,20.3,0.0000149916,EXAC_NFE_AF,ALMS1
444317,2:73677182:A>C,NM_015120.4:c.3525A>C,NP_055935.4:p.Gly1177=,8/23,\N,Unknown significance,\N,synonymous_variant,0.096,0.000115929,EXAC_EAS_AF,ALMS1
444318,2:73677190:A>G,NM_015120.4:c.3533A>G,NP_055935.4:p.Asn1180Ser,8/23,\N,Likely benign,\N,missense_variant,0.35,0.0000149907,EXAC_NFE_AF,ALMS1
444319,2:73677199:C>T,NM_015120.4:c.3542C>T,NP_055935.4:p.Thr1183Ile,8/23,\N,Likely benign,\N,missense_variant,14.02,0.0000605694,EXAC_SAS_AF,ALMS1
444320,2:73677204:A>T,NM_015120.4:c.3547A>T,NP_055935.4:p.Ile1185Leu,8/23,\N,Likely benign,\N,missense_variant,0.79,0.001,1KG_SAS_AF,ALMS1
444321,2:73677213:G>A,NM_015120.4:c.3556G>A,NP_055935.4:p.Val1188Ile,8/23,\N,Likely benign,\N,missense_variant,4.713,0.000102082,EXAC_AFR_AF,ALMS1
444322,2:73677215:A>G,NM_015120.4:c.3558A>G,NP_055935.4:p.Val1188=,8/23,\N,Unknown significance,\N,synonymous_variant,1.31,0.0000605694,EXAC_SAS_AF,ALMS1
444323,2:73677217:T>C,NM_015120.4:c.3560T>C,NP_055935.4:p.Leu1189Pro,8/23,\N,Likely benign,\N,missense_variant,0.179,0.0000865501,EXAC_AMR_AF,ALMS1
444324,2:73677220:C>T,NM_015120.4:c.3563C>T,NP_055935.4:p.Ser1190Phe,8/23,\N,Unknown significance,\N,missense_variant,18.93,0.0000149916,EXAC_NFE_AF,ALMS1
444325,2:73677222:A>G,NM_015120.4:c.3565A>G,NP_055935.4:p.Thr1191Ala,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000074958,EXAC_NFE_AF,ALMS1
444326,2:73677232:C>T,NM_015120.4:c.3575C>T,NP_055935.4:p.Ser1194Leu,8/23,\N,Likely benign,\N,missense_variant,16.93,0.000270856,EVS_AA_AF,ALMS1
444327,2:73677236:A>G,NM_015120.4:c.3579A>G,NP_055935.4:p.Gln1195=,8/23,\N,Unknown significance,\N,synonymous_variant,0.011,0.0000149912,EXAC_NFE_AF,ALMS1
444328,2:73677245:A>G,NM_015120.4:c.3588A>G,NP_055935.4:p.Lys1198=,8/23,\N,Unknown significance,\N,synonymous_variant,0.762,0.000102124,EXAC_AFR_AF,ALMS1
444329,2:73677254:T>C,NM_015120.4:c.3597T>C,NP_055935.4:p.Ile1201=,8/23,\N,Unknown significance,\N,synonymous_variant,3.117,0.0000605694,EXAC_SAS_AF,ALMS1
444330,2:73677258:T>C,NM_015120.4:c.3601T>C,NP_055935.4:p.Tyr1203His,8/23,\N,Likely benign,\N,missense_variant,7.061,0.000181708,EXAC_SAS_AF,ALMS1
444331,2:73677259:A>G,NM_015120.4:c.3602A>G,NP_055935.4:p.Tyr1203Cys,8/23,\N,Unknown significance,\N,missense_variant,13.39,0.000691922,EXAC_AMR_AF,ALMS1
444332,2:73677263:A>G,NM_015120.4:c.3606A>G,NP_055935.4:p.Gln1204=,8/23,\N,Unknown significance,\N,synonymous_variant,0.636,0.000181708,EXAC_SAS_AF,ALMS1
444333,2:73677265:A>G,NM_015120.4:c.3608A>G,NP_055935.4:p.Gln1205Arg,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.0008,1KG_AFR_AF,ALMS1
444334,2:73677271:T>C,NM_015120.4:c.3614T>C,NP_055935.4:p.Leu1207Ser,8/23,\N,Unknown significance,\N,missense_variant,23.3,0.0008,1KG_AFR_AF,ALMS1
444335,2:73677272:G>T,NM_015120.4:c.3615G>T,NP_055935.4:p.Leu1207Phe,8/23,\N,Likely benign,\N,missense_variant,18.66,0.000115982,EXAC_EAS_AF,ALMS1
444336,2:73677277:G>A,NM_015120.4:c.3620G>A,NP_055935.4:p.Gly1209Asp,8/23,\N,Likely benign,\N,missense_variant,0.003,0.0000605694,EXAC_SAS_AF,ALMS1
444337,2:73677278:T>A,NM_015120.4:c.3621T>A,NP_055935.4:p.Gly1209=,8/23,\N,Unknown significance,\N,synonymous_variant,3.963,0.0000149921,EXAC_NFE_AF,ALMS1
444338,2:73677285:A>G,NM_015120.4:c.3628A>G,NP_055935.4:p.Ile1212Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000149912,EXAC_NFE_AF,ALMS1
444339,2:73677287:A>C,NM_015120.4:c.3630A>C,NP_055935.4:p.Ile1212=,8/23,\N,Unknown significance,\N,synonymous_variant,0.04,\N,\N,ALMS1
444340,2:73677287:A>T,NM_015120.4:c.3630A>T,NP_055935.4:p.Ile1212=,8/23,\N,Unknown significance,\N,synonymous_variant,0.032,\N,\N,ALMS1
444341,2:73677288:C>G,NM_015120.4:c.3631C>G,NP_055935.4:p.Pro1213Ala,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000060562,EXAC_SAS_AF,ALMS1
444342,2:73677289:C>G,NM_015120.4:c.3632C>G,NP_055935.4:p.Pro1213Arg,8/23,\N,Likely benign,\N,missense_variant,22.2,0.000102145,EXAC_AFR_AF,ALMS1
444343,2:73677291:G>C,NM_015120.4:c.3634G>C,NP_055935.4:p.Glu1214Gln,8/23,\N,Likely benign,\N,missense_variant,0.789,0.00015124,EXAC_FIN_AF,ALMS1
444344,2:73677303:A>T,NM_015120.4:c.3646A>T,NP_055935.4:p.Lys1218Ter,8/23,\N,Unknown significance,\N,stop_gained,35,0.0000149903,EXAC_NFE_AF,ALMS1
444345,2:73677304:A>G,NM_015120.4:c.3647A>G,NP_055935.4:p.Lys1218Arg,8/23,\N,Likely benign,\N,missense_variant,0.734,0.000060562,EXAC_SAS_AF,ALMS1
444346,2:73677312:C>T,NM_015120.4:c.3655C>T,NP_055935.4:p.Pro1221Ser,8/23,\N,Likely benign,\N,missense_variant,0.001,0.000060562,EXAC_SAS_AF,ALMS1
444347,2:73677315:G>A,NM_015120.4:c.3658G>A,NP_055935.4:p.Val1222Ile,8/23,\N,Likely benign,\N,missense_variant,3.339,0.000116036,EXAC_EAS_AF,ALMS1
444348,2:73677319:T>G,NM_015120.4:c.3662T>G,NP_055935.4:p.Leu1223Arg,8/23,\N,Likely benign,\N,missense_variant,5.539,0.000121625,EVS_EA_AF,ALMS1
444349,2:73677334:A>G,NM_015120.4:c.3677A>G,NP_055935.4:p.Gln1228Arg,8/23,\N,Unknown significance,\N,missense_variant,23.3,0.000116009,EXAC_EAS_AF,ALMS1
444350,2:73677337:A>G,NM_015120.4:c.3680A>G,NP_055935.4:p.Lys1229Arg,8/23,\N,Likely benign,\N,missense_variant,24.9,0.0008,1KG_AFR_AF,ALMS1
444351,2:73677343:G>A,NM_015120.4:c.3686G>A,NP_055935.4:p.Gly1231Glu,8/23,\N,Likely benign,\N,missense_variant,16.69,0.0029,1KG_AMR_AF,ALMS1
444352,2:73677350:A>G,NM_015120.4:c.3693A>G,NP_055935.4:p.Pro1233=,8/23,\N,Unknown significance,\N,synonymous_variant,0.646,0.0000449775,EXAC_NFE_AF,ALMS1
444353,2:73677354:C>T,NM_015120.4:c.3697C>T,NP_055935.4:p.Pro1235Ser,8/23,\N,Likely benign,\N,missense_variant,0.014,0.000116198,EXAC_EAS_AF,ALMS1
444354,2:73677355:C>T,NM_015120.4:c.3698C>T,NP_055935.4:p.Pro1235Leu,8/23,\N,Likely benign,\N,missense_variant,4.86,0.0008,1KG_AFR_AF,ALMS1
444355,2:73677357:A>G,NM_015120.4:c.3700A>G,NP_055935.4:p.Thr1236Ala,8/23,\N,Likely benign,\N,missense_variant,0.184,0.00023218,EXAC_EAS_AF,ALMS1
444356,2:73677358:C>T,NM_015120.4:c.3701C>T,NP_055935.4:p.Thr1236Ile,8/23,\N,Likely benign,\N,missense_variant,10.52,0.0000149925,EXAC_NFE_AF,ALMS1
444357,2:73677368:T>G,NM_015120.4:c.3711T>G,NP_055935.4:p.Ser1239=,8/23,\N,Unknown significance,\N,synonymous_variant,0.258,0.000116171,EXAC_EAS_AF,ALMS1
444358,2:73677370:A>G,NM_015120.4:c.3713A>G,NP_055935.4:p.Tyr1240Cys,8/23,\N,Likely benign,\N,missense_variant,21.6,0.001,1KG_SAS_AF,ALMS1
444359,2:73677381:G>C,NM_015120.4:c.3724G>C,NP_055935.4:p.Glu1244Gln,8/23,\N,Benign,\N,missense_variant,20.7,0.005,1KG_EAS_AF,ALMS1
444360,2:73677384:A>G,NM_015120.4:c.3727A>G,NP_055935.4:p.Lys1245Glu,8/23,\N,Unknown significance,\N,missense_variant,22.6,0.0000149907,EXAC_NFE_AF,ALMS1
444361,2:73677386:G>A,NM_015120.4:c.3729G>A,NP_055935.4:p.Lys1245=,8/23,\N,Likely benign,\N,synonymous_variant,8.746,0.00449346,EXAC_AFR_AF,ALMS1
444362,2:73677392:T>C,NM_015120.4:c.3735T>C,NP_055935.4:p.Gly1247=,8/23,\N,Unknown significance,\N,synonymous_variant,0.169,0.000102124,EXAC_AFR_AF,ALMS1
444363,2:73677393:A>G,NM_015120.4:c.3736A>G,NP_055935.4:p.Ile1248Val,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444364,2:73677405:C>T,NM_015120.4:c.3748C>T,NP_055935.4:p.Gln1252Ter,8/23,\N,Unknown significance,\N,stop_gained,34,0.0000299877,EXAC_NFE_AF,ALMS1
444365,2:73677407:G>C,NM_015120.4:c.3750G>C,NP_055935.4:p.Gln1252His,8/23,\N,Likely benign,\N,missense_variant,12.47,0.0000605694,EXAC_SAS_AF,ALMS1
444366,2:73677416:A>G,NM_015120.4:c.3759A>G,NP_055935.4:p.Pro1255=,8/23,\N,Unknown significance,\N,synonymous_variant,1.465,0.000060562,EXAC_SAS_AF,ALMS1
444367,2:73677417:G>C,NM_015120.4:c.3760G>C,NP_055935.4:p.Asp1256His,8/23,\N,Unknown significance,\N,missense_variant,17.76,0.00011609,EXAC_EAS_AF,ALMS1
444368,2:73677418:A>G,NM_015120.4:c.3761A>G,NP_055935.4:p.Asp1256Gly,8/23,\N,Likely benign,\N,missense_variant,1.671,\N,\N,ALMS1
444369,2:73677421:A>G,NM_015120.4:c.3764A>G,NP_055935.4:p.Asn1257Ser,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444370,2:73677424:A>G,NM_015120.4:c.3767A>G,NP_055935.4:p.His1258Arg,8/23,\N,Likely benign,\N,missense_variant,0.025,0.0000605694,EXAC_SAS_AF,ALMS1
444371,2:73677429:A>G,NM_015120.4:c.3772A>G,NP_055935.4:p.Thr1260Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.00011609,EXAC_EAS_AF,ALMS1
444372,2:73677441:C>G,NM_015120.4:c.3784C>G,NP_055935.4:p.Leu1264Val,8/23,\N,Likely benign,\N,missense_variant,8.047,0.000121124,EXAC_SAS_AF,ALMS1
444373,2:73677453:G>C,NM_015120.4:c.3796G>C,NP_055935.4:p.Val1268Leu,8/23,\N,Likely benign,\N,missense_variant,5.838,0.000060562,EXAC_SAS_AF,ALMS1
444374,2:73677463:A>G,NM_015120.4:c.3806A>G,NP_055935.4:p.Glu1271Gly,8/23,\N,Likely benign,\N,missense_variant,2.196,0.000121139,EXAC_SAS_AF,ALMS1
444375,2:73677464:A>G,NM_015120.4:c.3807A>G,NP_055935.4:p.Glu1271=,8/23,\N,Unknown significance,\N,synonymous_variant,1.667,0.000060562,EXAC_SAS_AF,ALMS1
444376,2:73677466:C>A,NM_015120.4:c.3809C>A,NP_055935.4:p.Pro1272Gln,8/23,\N,Likely benign,\N,missense_variant,11.74,0.000367557,EVS_EA_AF,ALMS1
444377,2:73677466:C>T,NM_015120.4:c.3809C>T,NP_055935.4:p.Pro1272Leu,8/23,\N,Likely benign,\N,missense_variant,1.145,\N,\N,ALMS1
444378,2:73677485:C>A,NM_015120.4:c.3828C>A,NP_055935.4:p.Gly1278=,8/23,\N,Unknown significance,\N,synonymous_variant,8.994,0.0000605694,EXAC_SAS_AF,ALMS1
444379,2:73677490:C>T,NM_015120.4:c.3833C>T,NP_055935.4:p.Pro1280Leu,8/23,\N,Likely benign,\N,missense_variant,7.325,0.0000149948,EXAC_NFE_AF,ALMS1
444380,2:73677492:G>A,NM_015120.4:c.3835G>A,NP_055935.4:p.Ala1281Thr,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444381,2:73677499:C>T,NM_015120.4:c.3842C>T,NP_055935.4:p.Thr1283Ile,8/23,\N,Likely benign,\N,missense_variant,9.709,0.00111111,EXAC_OTH_AF,ALMS1
444382,2:73677514:C>T,NM_015120.4:c.3857C>T,NP_055935.4:p.Ser1288Leu,8/23,\N,Likely benign,\N,missense_variant,12.19,0.00012207,EVS_EA_AF,ALMS1
444383,2:73677520:A>G,NM_015120.4:c.3863A>G,NP_055935.4:p.Tyr1290Cys,8/23,\N,Likely benign,\N,missense_variant,10.03,0.000060562,EXAC_SAS_AF,ALMS1
444384,2:73677521:T>C,NM_015120.4:c.3864T>C,NP_055935.4:p.Tyr1290=,8/23,\N,Unknown significance,\N,synonymous_variant,0.026,0.00109349,EVS_AA_AF,ALMS1
444385,2:73677533:C>G,NM_015120.4:c.3876C>G,NP_055935.4:p.Pro1294=,8/23,\N,Unknown significance,\N,synonymous_variant,5.608,\N,\N,ALMS1
444386,2:73677535:G>A,NM_015120.4:c.3878G>A,NP_055935.4:p.Ser1295Asn,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444387,2:73677535:G>C,NM_015120.4:c.3878G>C,NP_055935.4:p.Ser1295Thr,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000865951,EXAC_AMR_AF,ALMS1
444388,2:73677536:C>T,NM_015120.4:c.3879C>T,NP_055935.4:p.Ser1295=,8/23,\N,Unknown significance,\N,synonymous_variant,8.557,0.00017328,EXAC_AMR_AF,ALMS1
444389,2:73677546:C>A,NM_015120.4:c.3889C>A,NP_055935.4:p.Gln1299Lys,8/23,\N,Unknown significance,\N,missense_variant,14.8,0.000102187,EXAC_AFR_AF,ALMS1
444390,2:73677548:A>G,NM_015120.4:c.3891A>G,NP_055935.4:p.Gln1299=,8/23,\N,Benign,\N,synonymous_variant,0.681,0.0832,1KG_AFR_AF,ALMS1
444391,2:73677551:G>A,NM_015120.4:c.3894G>A,NP_055935.4:p.Gln1300=,8/23,\N,Unknown significance,\N,synonymous_variant,1.152,0.0000299832,EXAC_NFE_AF,ALMS1
444392,2:73677553:C>A,NM_015120.4:c.3896C>A,NP_055935.4:p.Ser1301Ter,8/23,\N,Unknown significance,\N,stop_gained,21.8,0.000115982,EXAC_EAS_AF,ALMS1
444393,2:73677553:C>T,NM_015120.4:c.3896C>T,NP_055935.4:p.Ser1301Leu,8/23,\N,Likely benign,\N,missense_variant,0.025,0.0000149912,EXAC_NFE_AF,ALMS1
444394,2:73677560:AAGT>A,NM_015120.4:c.3907_3909del,NP_055935.4:p.Ser1305del,8/23,\N,Unknown significance,\N,inframe_deletion,3.938,0.0000149894,EXAC_NFE_AF,ALMS1
444395,2:73677561:A>G,NM_015120.4:c.3904A>G,NP_055935.4:p.Ser1304Gly,8/23,\N,Likely benign,\N,missense_variant,0.846,0.0000865351,EXAC_AMR_AF,ALMS1
444396,2:73677573:A>G,NM_015120.4:c.3916A>G,NP_055935.4:p.Thr1308Ala,8/23,\N,Likely benign,\N,missense_variant,2.322,\N,\N,ALMS1
444397,2:73677585:A>G,NM_015120.4:c.3928A>G,NP_055935.4:p.Lys1312Glu,8/23,\N,Likely benign,\N,missense_variant,0.332,0.000014988,EXAC_NFE_AF,ALMS1
444398,2:73677590:T>C,NM_015120.4:c.3933T>C,NP_055935.4:p.Asn1313=,8/23,\N,Unknown significance,\N,synonymous_variant,0.012,0.0000149876,EXAC_NFE_AF,ALMS1
444399,2:73677596:A>C,NM_015120.4:c.3939A>C,NP_055935.4:p.Ser1315=,8/23,\N,Unknown significance,\N,synonymous_variant,0.056,0.004,1KG_EUR_AF,ALMS1
444400,2:73677597:G>A,NM_015120.4:c.3940G>A,NP_055935.4:p.Ala1316Thr,8/23,\N,Likely benign,\N,missense_variant,2.047,0.0000149871,EXAC_NFE_AF,ALMS1
444401,2:73677598:C>T,NM_015120.4:c.3941C>T,NP_055935.4:p.Ala1316Val,8/23,\N,Likely benign,\N,missense_variant,0.836,0.0000865351,EXAC_AMR_AF,ALMS1
444402,2:73677599:G>A,NM_015120.4:c.3942G>A,NP_055935.4:p.Ala1316=,8/23,\N,Unknown significance,\N,synonymous_variant,9.153,0.0015,1KG_AFR_AF,ALMS1
444403,2:73677617:C>G,NM_015120.4:c.3960C>G,NP_055935.4:p.Asp1322Glu,8/23,\N,Likely benign,\N,missense_variant,7.356,0.000115929,EXAC_EAS_AF,ALMS1
444404,2:73677617:C>T,NM_015120.4:c.3960C>T,NP_055935.4:p.Asp1322=,8/23,\N,Unknown significance,\N,synonymous_variant,8.254,0.0000149844,EXAC_NFE_AF,ALMS1
444405,2:73677633:C>T,NM_015120.4:c.3976C>T,NP_055935.4:p.Pro1328Ser,8/23,\N,Likely benign,\N,missense_variant,14.19,0.0000149853,EXAC_NFE_AF,ALMS1
444406,2:73677634:C>T,NM_015120.4:c.3977C>T,NP_055935.4:p.Pro1328Leu,8/23,\N,Likely benign,\N,missense_variant,19.14,0.0000149858,EXAC_NFE_AF,ALMS1
444407,2:73677678:G>A,NM_015120.4:c.4021G>A,NP_055935.4:p.Val1343Ile,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444408,2:73677685:ACCAACAGGTCTTG>A,NM_015120.4:c.4032_4044del,NP_055935.4:p.Gln1346HisfsTer10,8/23,\N,Unknown significance,\N,frameshift_variant,25.7,\N,\N,ALMS1
444409,2:73677690:C>G,NM_015120.4:c.4033C>G,NP_055935.4:p.Gln1347Glu,8/23,\N,Unknown significance,\N,missense_variant,15.45,0.0000599556,EXAC_NFE_AF,ALMS1
444410,2:73677694:T>C,NM_015120.4:c.4037T>C,NP_055935.4:p.Val1348Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000865651,EXAC_AMR_AF,ALMS1
444411,2:73677703:A>G,NM_015120.4:c.4046A>G,NP_055935.4:p.His1351Arg,8/23,\N,Likely benign,\N,missense_variant,0.005,0.0008,1KG_AFR_AF,ALMS1
444412,2:73677704:T>G,NM_015120.4:c.4047T>G,NP_055935.4:p.His1351Gln,8/23,\N,Likely benign,\N,missense_variant,0.033,0.000060562,EXAC_SAS_AF,ALMS1
444413,2:73677705:A>T,NM_015120.4:c.4048A>T,NP_055935.4:p.Ser1352Cys,8/23,\N,Unknown significance,\N,missense_variant,19.72,0.0000149871,EXAC_NFE_AF,ALMS1
444414,2:73677706:G>A,NM_015120.4:c.4049G>A,NP_055935.4:p.Ser1352Asn,8/23,\N,Likely benign,\N,missense_variant,6.186,0.00157461,EXAC_SAS_AF,ALMS1
444415,2:73677722:G>C,NM_015120.4:c.4065G>C,NP_055935.4:p.Glu1357Asp,8/23,\N,Likely benign,\N,missense_variant,0.443,0.00012219,EVS_EA_AF,ALMS1
444416,2:73677738:G>A,NM_015120.4:c.4081G>A,NP_055935.4:p.Val1363Ile,8/23,\N,Likely benign,\N,missense_variant,1.881,0.0008,1KG_AFR_AF,ALMS1
444417,2:73677738:G>T,NM_015120.4:c.4081G>T,NP_055935.4:p.Val1363Phe,8/23,\N,Likely benign,\N,missense_variant,15.03,0.000060562,EXAC_SAS_AF,ALMS1
444418,2:73677739:T>G,NM_015120.4:c.4082T>G,NP_055935.4:p.Val1363Gly,8/23,\N,Likely benign,\N,missense_variant,1.016,0.000270124,EVS_AA_AF,ALMS1
444419,2:73677752:A>G,NM_015120.4:c.4095A>G,NP_055935.4:p.Pro1367=,8/23,\N,Unknown significance,\N,synonymous_variant,1.55,0.00015124,EXAC_FIN_AF,ALMS1
444420,2:73677761:G>C,NM_015120.4:c.4104G>C,NP_055935.4:p.Gln1370His,8/23,\N,Unknown significance,\N,missense_variant,22.8,0.000060562,EXAC_SAS_AF,ALMS1
444421,2:73677777:A>G,NM_015120.4:c.4120A>G,NP_055935.4:p.Thr1376Ala,8/23,\N,Likely benign,\N,missense_variant,3.85,0.000348028,EXAC_EAS_AF,ALMS1
444422,2:73677778:C>G,NM_015120.4:c.4121C>G,NP_055935.4:p.Thr1376Ser,8/23,\N,Likely benign,\N,missense_variant,2.66,0.0000149907,EXAC_NFE_AF,ALMS1
444423,2:73677778:C>T,NM_015120.4:c.4121C>T,NP_055935.4:p.Thr1376Ile,8/23,\N,Likely benign,\N,missense_variant,14.52,0.0000149907,EXAC_NFE_AF,ALMS1
444424,2:73677785:C>T,NM_015120.4:c.4128C>T,NP_055935.4:p.Thr1378=,8/23,\N,Unknown significance,\N,synonymous_variant,11.62,0.0000449721,EXAC_NFE_AF,ALMS1
444425,2:73677788:T>C,NM_015120.4:c.4131T>C,NP_055935.4:p.Ser1379=,8/23,\N,Unknown significance,\N,synonymous_variant,1.654,0.00348339,EVS_AA_AF,ALMS1
444426,2:73677789:A>G,NM_015120.4:c.4132A>G,NP_055935.4:p.Thr1380Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.000102082,EXAC_AFR_AF,ALMS1
444427,2:73677798:T>C,NM_015120.4:c.4141T>C,NP_055935.4:p.Ser1383Pro,8/23,\N,Likely benign,\N,missense_variant,7.834,0.0000149907,EXAC_NFE_AF,ALMS1
444428,2:73677799:C>G,NM_015120.4:c.4142C>G,NP_055935.4:p.Ser1383Ter,8/23,\N,Unknown significance,\N,stop_gained,35,\N,\N,ALMS1
444429,2:73677800:A>C,NM_015120.4:c.4143A>C,NP_055935.4:p.Ser1383=,8/23,\N,Unknown significance,\N,synonymous_variant,0.077,0.000269107,EVS_AA_AF,ALMS1
444430,2:73677803:A>G,NM_015120.4:c.4146A>G,NP_055935.4:p.Gln1384=,8/23,\N,Unknown significance,\N,synonymous_variant,1.288,0.001,1KG_EUR_AF,ALMS1
444431,2:73677805:A>G,NM_015120.4:c.4148A>G,NP_055935.4:p.His1385Arg,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000242248,EXAC_SAS_AF,ALMS1
444432,2:73677806:T>TA,NM_015120.4:c.4150dup,NP_055935.4:p.Thr1386AsnfsTer15,8/23,\N,Pathogenic,Alstrom syndrome,frameshift_variant,23.6,0.0000149916,EXAC_NFE_AF,ALMS1
444433,2:73677808:C>G,NM_015120.4:c.4151C>G,NP_055935.4:p.Thr1386Arg,8/23,\N,Benign,\N,missense_variant,0.041,0.0719,1KG_AFR_AF,ALMS1
444434,2:73677817:C>T,NM_015120.4:c.4160C>T,NP_055935.4:p.Pro1389Leu,8/23,\N,Unknown significance,\N,missense_variant,24,0.000181686,EXAC_SAS_AF,ALMS1
444435,2:73677820:G>A,NM_015120.4:c.4163G>A,NP_055935.4:p.Ser1390Asn,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444436,2:73677825:T>A,NM_015120.4:c.4168T>A,NP_055935.4:p.Phe1392Ile,8/23,\N,Likely benign,\N,missense_variant,16.25,0.000060562,EXAC_SAS_AF,ALMS1
444437,2:73677826:T>C,NM_015120.4:c.4169T>C,NP_055935.4:p.Phe1392Ser,8/23,\N,Likely benign,\N,missense_variant,15.74,0.0000865951,EXAC_AMR_AF,ALMS1
444438,2:73677827:C>A,NM_015120.4:c.4170C>A,NP_055935.4:p.Phe1392Leu,8/23,\N,Likely benign,\N,missense_variant,13.37,0.000121803,EVS_EA_AF,ALMS1
444439,2:73677830:C>T,NM_015120.4:c.4173C>T,NP_055935.4:p.Tyr1393=,8/23,\N,Unknown significance,\N,synonymous_variant,6.216,0.0000149907,EXAC_NFE_AF,ALMS1
444440,2:73677833:A>G,NM_015120.4:c.4176A>G,NP_055935.4:p.Gln1394=,8/23,\N,Benign,\N,synonymous_variant,1.775,0.7859,1KG_AFR_AF,ALMS1
444441,2:73677835:A>G,NM_015120.4:c.4178A>G,NP_055935.4:p.Gln1395Arg,8/23,\N,Likely benign,\N,missense_variant,22.8,0.000268384,EVS_AA_AF,ALMS1
444442,2:73677839:G>A,NM_015120.4:c.4182G>A,NP_055935.4:p.Ser1396=,8/23,\N,Unknown significance,\N,synonymous_variant,10.24,0.000363416,EXAC_SAS_AF,ALMS1
444443,2:73677852:C>T,NM_015120.4:c.4195C>T,NP_055935.4:p.His1401Tyr,8/23,\N,Likely benign,\N,missense_variant,11.98,0.0000299778,EXAC_NFE_AF,ALMS1
444444,2:73677853:A>G,NM_015120.4:c.4196A>G,NP_055935.4:p.His1401Arg,8/23,\N,Likely benign,\N,missense_variant,0.056,0.000121507,EVS_EA_AF,ALMS1
444445,2:73677855:C>T,NM_015120.4:c.4198C>T,NP_055935.4:p.Leu1402=,8/23,\N,Unknown significance,\N,synonymous_variant,10.77,0.0000149889,EXAC_NFE_AF,ALMS1
444446,2:73677858:A>G,NM_015120.4:c.4201A>G,NP_055935.4:p.Thr1403Ala,8/23,\N,Likely benign,\N,missense_variant,5.184,0.0014,1KG_AMR_AF,ALMS1
444447,2:73677875:C>T,NM_015120.4:c.4218C>T,NP_055935.4:p.Asn1408=,8/23,\N,Unknown significance,\N,synonymous_variant,10.09,0.000115982,EXAC_EAS_AF,ALMS1
444448,2:73677876:G>A,NM_015120.4:c.4219G>A,NP_055935.4:p.Val1409Ile,8/23,\N,Likely benign,\N,missense_variant,6.489,0.00111111,EXAC_OTH_AF,ALMS1
444449,2:73677877:T>C,NM_015120.4:c.4220T>C,NP_055935.4:p.Val1409Ala,8/23,\N,Likely benign,\N,missense_variant,10.89,\N,\N,ALMS1
444450,2:73677882:G>C,NM_015120.4:c.4225G>C,NP_055935.4:p.Ala1411Pro,8/23,\N,Likely benign,\N,missense_variant,2.63,0.00111111,EXAC_OTH_AF,ALMS1
444451,2:73677882:G>T,NM_015120.4:c.4225G>T,NP_055935.4:p.Ala1411Ser,8/23,\N,Likely benign,\N,missense_variant,0.064,0.0000299751,EXAC_NFE_AF,ALMS1
444452,2:73677883:C>T,NM_015120.4:c.4226C>T,NP_055935.4:p.Ala1411Val,8/23,\N,Likely benign,\N,missense_variant,8.973,0.000029976,EXAC_NFE_AF,ALMS1
444453,2:73677884:G>A,NM_015120.4:c.4227G>A,NP_055935.4:p.Ala1411=,8/23,\N,Unknown significance,\N,synonymous_variant,9.342,0.0008,1KG_AFR_AF,ALMS1
444454,2:73677888:C>T,NM_015120.4:c.4231C>T,NP_055935.4:p.Pro1413Ser,8/23,\N,Likely benign,\N,missense_variant,8.537,0.0000864603,EXAC_AMR_AF,ALMS1
444455,2:73677894:C>T,NM_015120.4:c.4237C>T,NP_055935.4:p.Pro1415Ser,8/23,\N,Likely benign,\N,missense_variant,0.552,0.000014988,EXAC_NFE_AF,ALMS1
444456,2:73677895:C>G,NM_015120.4:c.4238C>G,NP_055935.4:p.Pro1415Arg,8/23,\N,Likely benign,\N,missense_variant,10.59,0.00111111,EXAC_OTH_AF,ALMS1
444457,2:73677898:G>C,NM_015120.4:c.4241G>C,NP_055935.4:p.Gly1416Ala,8/23,\N,Benign,\N,missense_variant,0.002,0.8782,1KG_AFR_AF,ALMS1
444458,2:73677903:C>T,NM_015120.4:c.4246C>T,NP_055935.4:p.Arg1418Trp,8/23,\N,Unknown significance,\N,missense_variant,23.1,0.00185529,EXAC_EAS_AF,ALMS1
444459,2:73677904:G>A,NM_015120.4:c.4247G>A,NP_055935.4:p.Arg1418Gln,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000518941,EXAC_AMR_AF,ALMS1
444460,2:73677915:A>T,NM_015120.4:c.4258A>T,NP_055935.4:p.Ile1422Leu,8/23,\N,Likely benign,\N,missense_variant,0.064,0.0000149889,EXAC_NFE_AF,ALMS1
444461,2:73677921:A>T,NM_015120.4:c.4264A>T,NP_055935.4:p.Thr1424Ser,8/23,\N,Likely benign,\N,missense_variant,0.034,0.000951392,EXAC_AMR_AF,ALMS1
444462,2:73677922:C>T,NM_015120.4:c.4265C>T,NP_055935.4:p.Thr1424Ile,8/23,\N,Likely benign,\N,missense_variant,17.91,0.0000866251,EXAC_AMR_AF,ALMS1
444463,2:73677929:C>T,NM_015120.4:c.4272C>T,NP_055935.4:p.Pro1426=,8/23,\N,Unknown significance,\N,synonymous_variant,9.285,0.0000149898,EXAC_NFE_AF,ALMS1
444464,2:73677940:A>G,NM_015120.4:c.4283A>G,NP_055935.4:p.Tyr1430Cys,8/23,\N,Likely benign,\N,missense_variant,15.1,0.000242336,EXAC_SAS_AF,ALMS1
444465,2:73677942:TCACA>T,NM_015120.4:c.4290_4293del,NP_055935.4:p.His1432GlnfsTer40,8/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
444466,2:73677945:C>T,NM_015120.4:c.4288C>T,NP_055935.4:p.His1432Tyr,8/23,\N,Likely benign,\N,missense_variant,0.075,0.000060584,EXAC_SAS_AF,ALMS1
444467,2:73677951:G>C,NM_015120.4:c.4294G>C,NP_055935.4:p.Glu1434Gln,8/23,\N,Unknown significance,\N,missense_variant,18.55,0.001,1KG_EAS_AF,ALMS1
444468,2:73677955:A>C,NM_015120.4:c.4298A>C,NP_055935.4:p.Lys1435Thr,8/23,\N,Unknown significance,\N,missense_variant,12.53,0.0000449613,EXAC_NFE_AF,ALMS1
444469,2:73677955:A>G,NM_015120.4:c.4298A>G,NP_055935.4:p.Lys1435Arg,8/23,\N,Likely benign,\N,missense_variant,13.49,0.000060584,EXAC_SAS_AF,ALMS1
444470,2:73677956:G>T,NM_015120.4:c.4299G>T,NP_055935.4:p.Lys1435Asn,8/23,\N,Unknown significance,\N,missense_variant,23.2,0.000044964,EXAC_NFE_AF,ALMS1
444471,2:73677960:G>A,NM_015120.4:c.4303G>A,NP_055935.4:p.Gly1437Ser,8/23,\N,Likely benign,\N,missense_variant,0.081,0.000115982,EXAC_EAS_AF,ALMS1
444472,2:73677963:A>G,NM_015120.4:c.4306A>G,NP_055935.4:p.Ser1438Gly,8/23,\N,Likely benign,\N,missense_variant,0.004,\N,\N,ALMS1
444473,2:73677964:G>T,NM_015120.4:c.4307G>T,NP_055935.4:p.Ser1438Ile,8/23,\N,Likely benign,\N,missense_variant,0.004,0.000232019,EXAC_EAS_AF,ALMS1
444474,2:73677968:C>T,NM_015120.4:c.4311C>T,NP_055935.4:p.Phe1439=,8/23,\N,Unknown significance,\N,synonymous_variant,10.83,0.001,1KG_SAS_AF,ALMS1
444475,2:73677970:A>C,NM_015120.4:c.4313A>C,NP_055935.4:p.Tyr1440Ser,8/23,\N,Likely benign,\N,missense_variant,6.961,0.0015,1KG_AFR_AF,ALMS1
444476,2:73677974:A>G,NM_015120.4:c.4317A>G,NP_055935.4:p.Gln1441=,8/23,\N,Unknown significance,\N,synonymous_variant,0.233,0.000044964,EXAC_NFE_AF,ALMS1
444477,2:73677978:G>T,NM_015120.4:c.4321G>T,NP_055935.4:p.Val1443Phe,8/23,\N,Unknown significance,\N,missense_variant,22.9,0.000121714,EVS_EA_AF,ALMS1
444478,2:73677983:G>T,NM_015120.4:c.4326G>T,NP_055935.4:p.Leu1444Phe,8/23,\N,Benign,\N,missense_variant,10.2,0.0099,1KG_EAS_AF,ALMS1
444479,2:73677987:C>T,NM_015120.4:c.4330C>T,NP_055935.4:p.His1446Tyr,8/23,\N,Likely benign,\N,missense_variant,20.2,0.0000149898,EXAC_NFE_AF,ALMS1
444480,2:73677992:T>G,NM_015120.4:c.4335T>G,NP_055935.4:p.Ser1447Arg,8/23,\N,Likely benign,\N,missense_variant,13.89,\N,\N,ALMS1
444481,2:73677995:T>C,NM_015120.4:c.4338T>C,NP_055935.4:p.His1448=,8/23,\N,Unknown significance,\N,synonymous_variant,0.024,0.0000864753,EXAC_AMR_AF,ALMS1
444482,2:73677998:A>G,NM_015120.4:c.4341A>G,NP_055935.4:p.Leu1449=,8/23,\N,Unknown significance,\N,synonymous_variant,11.71,0.00190344,EXAC_AMR_AF,ALMS1
444483,2:73678000:C>CT,NM_015120.4:c.4344dup,NP_055935.4:p.Glu1451Ter,8/23,\N,Unknown significance,\N,frameshift_variant,25.9,0.0000149903,EXAC_NFE_AF,ALMS1
444484,2:73678008:G>A,NM_015120.4:c.4351G>A,NP_055935.4:p.Ala1453Thr,8/23,\N,Likely benign,\N,missense_variant,2.347,0.000119933,EXAC_NFE_AF,ALMS1
444485,2:73678014:G>C,NM_015120.4:c.4357G>C,NP_055935.4:p.Glu1455Gln,8/23,\N,Likely benign,\N,missense_variant,9.53,0.00017307,EXAC_AMR_AF,ALMS1
444486,2:73678020:T>G,NM_015120.4:c.4363T>G,NP_055935.4:p.Ser1457Ala,8/23,\N,Likely benign,\N,missense_variant,3.304,0.00017298,EXAC_AMR_AF,ALMS1
444487,2:73678023:G>A,NM_015120.4:c.4366G>A,NP_055935.4:p.Val1458Ile,8/23,\N,Likely benign,\N,missense_variant,5.002,0.000115955,EXAC_EAS_AF,ALMS1
444488,2:73678023:G>T,NM_015120.4:c.4366G>T,NP_055935.4:p.Val1458Phe,8/23,\N,Likely benign,\N,missense_variant,14.02,0.000264131,EVS_AA_AF,ALMS1
444489,2:73678033:G>A,NM_015120.4:c.4376G>A,NP_055935.4:p.Gly1461Glu,8/23,\N,Likely benign,\N,missense_variant,13.38,0.0000299859,EXAC_NFE_AF,ALMS1
444490,2:73678038:G>C,NM_015120.4:c.4381G>C,NP_055935.4:p.Val1463Leu,8/23,\N,Likely benign,\N,missense_variant,5.253,0.0000606281,EXAC_SAS_AF,ALMS1
444491,2:73678048:C>T,NM_015120.4:c.4391C>T,NP_055935.4:p.Thr1466Met,8/23,\N,Likely benign,\N,missense_variant,23.3,0.001,1KG_SAS_AF,ALMS1
444492,2:73678049:G>A,NM_015120.4:c.4392G>A,NP_055935.4:p.Thr1466=,8/23,\N,Unknown significance,\N,synonymous_variant,11.42,0.001,1KG_SAS_AF,ALMS1
444493,2:73678052:T>A,NM_015120.4:c.4395T>A,NP_055935.4:p.Ile1467=,8/23,\N,Unknown significance,\N,synonymous_variant,10.27,0.0000149943,EXAC_NFE_AF,ALMS1
444494,2:73678054:G>T,NM_015120.4:c.4397G>T,NP_055935.4:p.Gly1468Val,8/23,\N,Unknown significance,\N,missense_variant,22.9,0.0034701,EXAC_AFR_AF,ALMS1
444495,2:73678059:C>A,NM_015120.4:c.4402C>A,NP_055935.4:p.Pro1470Thr,8/23,\N,Likely benign,\N,missense_variant,12.62,0.000265111,EVS_AA_AF,ALMS1
444496,2:73678065:G>A,NM_015120.4:c.4408G>A,NP_055935.4:p.Val1472Ile,8/23,\N,Likely benign,\N,missense_variant,0.152,0.0000606208,EXAC_SAS_AF,ALMS1
444497,2:73678076:T>A,NM_015120.4:c.4419T>A,NP_055935.4:p.Pro1475=,8/23,\N,Unknown significance,\N,synonymous_variant,3.597,0.0000149943,EXAC_NFE_AF,ALMS1
444498,2:73678084:C>T,NM_015120.4:c.4427C>T,NP_055935.4:p.Ser1478Leu,8/23,\N,Unknown significance,\N,missense_variant,20.3,\N,\N,ALMS1
444499,2:73678089:G>A,NM_015120.4:c.4432G>A,NP_055935.4:p.Gly1480Arg,8/23,\N,Likely benign,\N,missense_variant,4.716,0.000102082,EXAC_AFR_AF,ALMS1
444500,2:73678090:G>A,NM_015120.4:c.4433G>A,NP_055935.4:p.Gly1480Glu,8/23,\N,Likely benign,\N,missense_variant,16.75,0.00111111,EXAC_OTH_AF,ALMS1
444501,2:73678099:C>T,NM_015120.4:c.4442C>T,NP_055935.4:p.Pro1483Leu,8/23,\N,Unknown significance,\N,missense_variant,20.2,0.000121743,EVS_EA_AF,ALMS1
444502,2:73678101:A>G,NM_015120.4:c.4444A>G,NP_055935.4:p.Ile1484Val,8/23,\N,Likely benign,\N,missense_variant,0.057,0.00025983,EXAC_AMR_AF,ALMS1
444503,2:73678102:T>C,NM_015120.4:c.4445T>C,NP_055935.4:p.Ile1484Thr,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000121892,EVS_EA_AF,ALMS1
444504,2:73678104:G>A,NM_015120.4:c.4447G>A,NP_055935.4:p.Val1485Ile,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000121153,EXAC_SAS_AF,ALMS1
444505,2:73678108:T>C,NM_015120.4:c.4451T>C,NP_055935.4:p.Ile1486Thr,8/23,\N,Likely benign,\N,missense_variant,1.876,0.001,1KG_SAS_AF,ALMS1
444506,2:73678118:G>A,NM_015120.4:c.4461G>A,NP_055935.4:p.Gln1489=,8/23,\N,Unknown significance,\N,synonymous_variant,3.398,0.0000149916,EXAC_NFE_AF,ALMS1
444507,2:73678124:T>C,NM_015120.4:c.4467T>C,NP_055935.4:p.Phe1491=,8/23,\N,Unknown significance,\N,synonymous_variant,0.172,0.0000149939,EXAC_NFE_AF,ALMS1
444508,2:73678130:G>T,NM_015120.4:c.4473G>T,NP_055935.4:p.Glu1493Asp,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000605767,EXAC_SAS_AF,ALMS1
444509,2:73678137:C>G,NM_015120.4:c.4480C>G,NP_055935.4:p.Leu1496Val,8/23,\N,Likely benign,\N,missense_variant,0.102,0.00027027,EVS_AA_AF,ALMS1
444510,2:73678138:T>G,NM_015120.4:c.4481T>G,NP_055935.4:p.Leu1496Arg,8/23,\N,Likely benign,\N,missense_variant,15.25,0.0000299841,EXAC_NFE_AF,ALMS1
444511,2:73678152:C>T,NM_015120.4:c.4495C>T,NP_055935.4:p.Leu1501=,8/23,\N,Unknown significance,\N,synonymous_variant,11.99,\N,\N,ALMS1
444512,2:73678191:A>G,NM_015120.4:c.4534A>G,NP_055935.4:p.Thr1514Ala,8/23,\N,Likely benign,\N,missense_variant,0.214,0.000268528,EVS_AA_AF,ALMS1
444513,2:73678196:C>T,NM_015120.4:c.4539C>T,NP_055935.4:p.Gly1515=,8/23,\N,Unknown significance,\N,synonymous_variant,13.05,0.0000149948,EXAC_NFE_AF,ALMS1
444514,2:73678197:G>A,NM_015120.4:c.4540G>A,NP_055935.4:p.Ala1516Thr,8/23,\N,Likely benign,\N,missense_variant,0.002,0.00175758,EXAC_SAS_AF,ALMS1
444515,2:73678197:GC>G,NM_015120.4:c.4541del,NP_055935.4:p.Ala1516AspfsTer4,8/23,\N,Unknown significance,\N,frameshift_variant,21.1,0.000121212,EXAC_SAS_AF,ALMS1
444516,2:73678212:T>G,NM_015120.4:c.4555T>G,NP_055935.4:p.Ser1521Ala,8/23,\N,Likely benign,\N,missense_variant,9.367,0.0000299823,EXAC_NFE_AF,ALMS1
444517,2:73678228:A>C,NM_015120.4:c.4571A>C,NP_055935.4:p.Gln1526Pro,8/23,\N,Likely benign,\N,missense_variant,0.012,0.000102103,EXAC_AFR_AF,ALMS1
444518,2:73678241:G>C,NM_015120.4:c.4584G>C,NP_055935.4:p.Lys1530Asn,8/23,\N,Likely benign,\N,missense_variant,10.86,0.0000149916,EXAC_NFE_AF,ALMS1
444519,2:73678255:A>G,NM_015120.4:c.4598A>G,NP_055935.4:p.Tyr1535Cys,8/23,\N,Likely benign,\N,missense_variant,22.4,0.0000149907,EXAC_NFE_AF,ALMS1
444520,2:73678259:A>G,NM_015120.4:c.4602A>G,NP_055935.4:p.Gln1536=,8/23,\N,Benign,\N,synonymous_variant,0.034,0.0189,1KG_AFR_AF,ALMS1
444521,2:73678264:C>A,NM_015120.4:c.4607C>A,NP_055935.4:p.Ala1538Glu,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000865202,EXAC_AMR_AF,ALMS1
444522,2:73678269:C>T,NM_015120.4:c.4612C>T,NP_055935.4:p.Leu1540=,8/23,\N,Unknown significance,\N,synonymous_variant,8.275,0.000463714,EXAC_EAS_AF,ALMS1
444523,2:73678270:T>C,NM_015120.4:c.4613T>C,NP_055935.4:p.Leu1540Pro,8/23,\N,Likely benign,\N,missense_variant,6.329,0.000121981,EVS_EA_AF,ALMS1
444524,2:73678275:A>G,NM_015120.4:c.4618A>G,NP_055935.4:p.Ser1542Gly,8/23,\N,Likely benign,\N,missense_variant,0.02,0.000102082,EXAC_AFR_AF,ALMS1
444525,2:73678280:A>C,NM_015120.4:c.4623A>C,NP_055935.4:p.Gln1543His,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000265534,EVS_AA_AF,ALMS1
444526,2:73678280:A>G,NM_015120.4:c.4623A>G,NP_055935.4:p.Gln1543=,8/23,\N,Unknown significance,\N,synonymous_variant,0.019,0.000231857,EXAC_EAS_AF,ALMS1
444527,2:73678289:A>G,NM_015120.4:c.4632A>G,NP_055935.4:p.Glu1546=,8/23,\N,Unknown significance,\N,synonymous_variant,5.63,0.000115955,EXAC_EAS_AF,ALMS1
444528,2:73678297:T>C,NM_015120.4:c.4640T>C,NP_055935.4:p.Leu1549Pro,8/23,\N,Likely benign,\N,missense_variant,22.1,0.000231857,EXAC_EAS_AF,ALMS1
444529,2:73678300:G>T,NM_015120.4:c.4643G>T,NP_055935.4:p.Arg1550Ile,8/23,\N,Likely benign,\N,missense_variant,15.01,0.0000149921,EXAC_NFE_AF,ALMS1
444530,2:73678301:A>C,NM_015120.4:c.4644A>C,NP_055935.4:p.Arg1550Ser,8/23,\N,Unknown significance,\N,missense_variant,15.06,\N,\N,ALMS1
444531,2:73678303:T>G,NM_015120.4:c.4646T>G,NP_055935.4:p.Val1551Gly,8/23,\N,Likely benign,\N,missense_variant,13.77,0.0000149907,EXAC_NFE_AF,ALMS1
444532,2:73678316:T>A,NM_015120.4:c.4659T>A,NP_055935.4:p.Pro1555=,8/23,\N,Unknown significance,\N,synonymous_variant,10.67,\N,\N,ALMS1
444533,2:73678317:G>C,NM_015120.4:c.4660G>C,NP_055935.4:p.Gly1556Arg,8/23,\N,Likely benign,\N,missense_variant,14.61,0.001,1KG_SAS_AF,ALMS1
444534,2:73678317:G>T,NM_015120.4:c.4660G>T,NP_055935.4:p.Gly1556Ter,8/23,\N,Unknown significance,\N,stop_gained,35,\N,\N,ALMS1
444535,2:73678325:T>C,NM_015120.4:c.4668T>C,NP_055935.4:p.Ala1558=,8/23,\N,Unknown significance,\N,synonymous_variant,7.651,0.0000149912,EXAC_NFE_AF,ALMS1
444536,2:73678328:C>G,NM_015120.4:c.4671C>G,NP_055935.4:p.Asp1559Glu,8/23,\N,Likely benign,\N,missense_variant,14.31,0.000151194,EXAC_FIN_AF,ALMS1
444537,2:73678333:C>A,NM_015120.4:c.4676C>A,NP_055935.4:p.Thr1561Lys,8/23,\N,Likely benign,\N,missense_variant,3.83,0.0008,1KG_AFR_AF,ALMS1
444538,2:73678342:T>C,NM_015120.4:c.4685T>C,NP_055935.4:p.Ile1564Thr,8/23,\N,Likely benign,\N,missense_variant,6.793,0.0000605767,EXAC_SAS_AF,ALMS1
444539,2:73678345:C>G,NM_015120.4:c.4688C>G,NP_055935.4:p.Pro1565Arg,8/23,\N,Unknown significance,\N,missense_variant,23.7,0.0000865351,EXAC_AMR_AF,ALMS1
444540,2:73678350:A>G,NM_015120.4:c.4693A>G,NP_055935.4:p.Ile1567Val,8/23,\N,Likely benign,\N,missense_variant,0.003,0.0000149952,EXAC_NFE_AF,ALMS1
444541,2:73678353:A>G,NM_015120.4:c.4696A>G,NP_055935.4:p.Thr1568Ala,8/23,\N,Likely benign,\N,missense_variant,1.837,0.0000605767,EXAC_SAS_AF,ALMS1
444542,2:73678354:C>A,NM_015120.4:c.4697C>A,NP_055935.4:p.Thr1568Asn,8/23,\N,Unknown significance,\N,missense_variant,18.74,0.0000866101,EXAC_AMR_AF,ALMS1
444543,2:73678357:C>A,NM_015120.4:c.4700C>A,NP_055935.4:p.Ser1569Tyr,8/23,\N,Unknown significance,\N,missense_variant,23.8,0.0000149988,EXAC_NFE_AF,ALMS1
444544,2:73678363:C>T,NM_015120.4:c.4706C>T,NP_055935.4:p.Ser1571Phe,8/23,\N,Likely benign,\N,missense_variant,19.6,0.0000865801,EXAC_AMR_AF,ALMS1
444545,2:73678370:A>G,NM_015120.4:c.4713A>G,NP_055935.4:p.Ser1573=,8/23,\N,Unknown significance,\N,synonymous_variant,5.895,\N,\N,ALMS1
444546,2:73678374:G>A,NM_015120.4:c.4717G>A,NP_055935.4:p.Gly1575Arg,8/23,\N,Likely benign,\N,missense_variant,0.134,0.0000150033,EXAC_NFE_AF,ALMS1
444547,2:73678384:C>A,NM_015120.4:c.4727C>A,NP_055935.4:p.Pro1578Gln,8/23,\N,Unknown significance,\N,missense_variant,23.8,\N,\N,ALMS1
444548,2:73678384:C>T,NM_015120.4:c.4727C>T,NP_055935.4:p.Pro1578Leu,8/23,\N,Unknown significance,\N,missense_variant,22.2,0.000116036,EXAC_EAS_AF,ALMS1
444549,2:73678385:G>A,NM_015120.4:c.4728G>A,NP_055935.4:p.Pro1578=,8/23,\N,Unknown significance,\N,synonymous_variant,5.535,0.0000450099,EXAC_NFE_AF,ALMS1
444550,2:73678388:T>G,NM_015120.4:c.4731T>G,NP_055935.4:p.Ile1579Met,8/23,\N,Unknown significance,\N,missense_variant,0.18,0.000015002,EXAC_NFE_AF,ALMS1
444551,2:73678396:A>G,NM_015120.4:c.4739A>G,NP_055935.4:p.Tyr1582Cys,8/23,\N,Unknown significance,\N,missense_variant,12.57,0.00017331,EXAC_AMR_AF,ALMS1
444552,2:73678398:A>C,NM_015120.4:c.4741A>C,NP_055935.4:p.Lys1583Gln,8/23,\N,Likely benign,\N,missense_variant,0.001,0.00015124,EXAC_FIN_AF,ALMS1
444553,2:73678403:G>T,NM_015120.4:c.4746G>T,NP_055935.4:p.Gln1584His,8/23,\N,Likely benign,\N,missense_variant,16.58,0.0000605767,EXAC_SAS_AF,ALMS1
444554,2:73678410:C>G,NM_015120.4:c.4753C>G,NP_055935.4:p.Pro1587Ala,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000150047,EXAC_NFE_AF,ALMS1
444555,2:73678412:A>G,NM_015120.4:c.4755A>G,NP_055935.4:p.Pro1587=,8/23,\N,Unknown significance,\N,synonymous_variant,0.459,0.000102103,EXAC_AFR_AF,ALMS1
444556,2:73678415:T>C,NM_015120.4:c.4758T>C,NP_055935.4:p.Asp1588=,8/23,\N,Unknown significance,\N,synonymous_variant,0.072,0.000102103,EXAC_AFR_AF,ALMS1
444557,2:73678419:C>A,NM_015120.4:c.4762C>A,NP_055935.4:p.His1590Asn,8/23,\N,Likely benign,\N,missense_variant,0.632,0.0000150038,EXAC_NFE_AF,ALMS1
444558,2:73678424:A>G,NM_015120.4:c.4767A>G,NP_055935.4:p.Leu1591=,8/23,\N,Unknown significance,\N,synonymous_variant,10.69,0.0000150033,EXAC_NFE_AF,ALMS1
444559,2:73678428:G>A,NM_015120.4:c.4771G>A,NP_055935.4:p.Glu1593Lys,8/23,\N,Likely benign,\N,missense_variant,22,0.0000605767,EXAC_SAS_AF,ALMS1
444560,2:73678432:A>G,NM_015120.4:c.4775A>G,NP_055935.4:p.Glu1594Gly,8/23,\N,Likely benign,\N,missense_variant,19.7,0.0000605694,EXAC_SAS_AF,ALMS1
444561,2:73678433:G>C,NM_015120.4:c.4776G>C,NP_055935.4:p.Glu1594Asp,8/23,\N,Likely benign,\N,missense_variant,21.7,0.0000150033,EXAC_NFE_AF,ALMS1
444562,2:73678443:G>A,NM_015120.4:c.4786G>A,NP_055935.4:p.Val1598Ile,8/23,\N,Likely benign,\N,missense_variant,4.647,0.0000150074,EXAC_NFE_AF,ALMS1
444563,2:73678449:A>G,NM_015120.4:c.4792A>G,NP_055935.4:p.Ile1600Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.00023218,EXAC_EAS_AF,ALMS1
444564,2:73678450:T>C,NM_015120.4:c.4793T>C,NP_055935.4:p.Ile1600Thr,8/23,\N,Likely benign,\N,missense_variant,0.011,0.000121153,EXAC_SAS_AF,ALMS1
444565,2:73678458:G>A,NM_015120.4:c.4801G>A,NP_055935.4:p.Gly1603Arg,8/23,\N,Unknown significance,\N,missense_variant,8.761,0.000122011,EVS_EA_AF,ALMS1
444566,2:73678467:GA>G,NM_015120.4:c.4817del,NP_055935.4:p.Lys1608ArgfsTer9,8/23,\N,Unknown significance,\N,frameshift_variant,23.3,0.0000150177,EXAC_NFE_AF,ALMS1
444567,2:73678478:T>G,NM_015120.4:c.4821T>G,NP_055935.4:p.Thr1609=,8/23,\N,Unknown significance,\N,synonymous_variant,3.096,0.0008,1KG_AFR_AF,ALMS1
444568,2:73678481:C>T,NM_015120.4:c.4824C>T,NP_055935.4:p.Asp1610=,8/23,\N,Unknown significance,\N,synonymous_variant,7.094,0.000121892,EVS_EA_AF,ALMS1
444569,2:73678483:T>C,NM_015120.4:c.4826T>C,NP_055935.4:p.Ile1611Thr,8/23,\N,Likely benign,\N,missense_variant,0.224,0.0000867002,EXAC_AMR_AF,ALMS1
444570,2:73678492:G>A,NM_015120.4:c.4835G>A,NP_055935.4:p.Gly1614Glu,8/23,\N,Likely benign,\N,missense_variant,0.671,0.0000150322,EXAC_NFE_AF,ALMS1
444571,2:73678497:T>A,NM_015120.4:c.4840T>A,NP_055935.4:p.Leu1616Ile,8/23,\N,Unknown significance,\N,missense_variant,9.904,0.000121921,EVS_EA_AF,ALMS1
444572,2:73678497:T>G,NM_015120.4:c.4840T>G,NP_055935.4:p.Leu1616Val,8/23,\N,Unknown significance,\N,missense_variant,4.293,0.000102501,EXAC_AFR_AF,ALMS1
444573,2:73678501:G>A,NM_015120.4:c.4844G>A,NP_055935.4:p.Gly1617Asp,8/23,\N,Likely benign,\N,missense_variant,0.07,0.000424345,EXAC_SAS_AF,ALMS1
444574,2:73678511:A>G,NM_015120.4:c.4854A>G,NP_055935.4:p.Ala1620=,8/23,\N,Unknown significance,\N,synonymous_variant,1.907,0.000121921,EVS_EA_AF,ALMS1
444575,2:73678516:G>T,NM_015120.4:c.4859G>T,NP_055935.4:p.Gly1622Val,8/23,\N,Unknown significance,\N,missense_variant,19.32,0.0000606134,EXAC_SAS_AF,ALMS1
444576,2:73678518:G>C,NM_015120.4:c.4861G>C,NP_055935.4:p.Glu1623Gln,8/23,\N,Unknown significance,\N,missense_variant,23.5,0.000102881,EXAC_AFR_AF,ALMS1
444577,2:73678526:C>T,NM_015120.4:c.4869C>T,NP_055935.4:p.Pro1625=,8/23,\N,Unknown significance,\N,synonymous_variant,9.118,0.00026738,EVS_AA_AF,ALMS1
444578,2:73678537:A>G,NM_015120.4:c.4880A>G,NP_055935.4:p.Tyr1629Cys,8/23,\N,Unknown significance,\N,missense_variant,22.8,0.000268817,EVS_AA_AF,ALMS1
444579,2:73678538:C>A,NM_015120.4:c.4881C>A,NP_055935.4:p.Tyr1629Ter,8/23,\N,Unknown significance,\N,stop_gained,35,\N,\N,ALMS1
444580,2:73678539:C>T,NM_015120.4:c.4882C>T,NP_055935.4:p.Arg1630Trp,8/23,\N,Unknown significance,\N,missense_variant,23.5,0.003,1KG_EAS_AF,ALMS1
444581,2:73678540:G>A,NM_015120.4:c.4883G>A,NP_055935.4:p.Arg1630Gln,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0015,1KG_AFR_AF,ALMS1
444582,2:73678561:C>T,NM_015120.4:c.4904C>T,NP_055935.4:p.Pro1637Leu,8/23,\N,Likely benign,\N,missense_variant,0.071,0.000208768,EXAC_AFR_AF,ALMS1
444583,2:73678563:CTAAA>C,NM_015120.4:c.4911_4914del,NP_055935.4:p.Asn1639LysfsTer4,8/23,\N,Unknown significance,\N,frameshift_variant,25.6,\N,\N,ALMS1
444584,2:73678574:GGTT>G,NM_015120.4:c.4920_4922del,NP_055935.4:p.Val1643del,8/23,\N,Unknown significance,\N,inframe_deletion,5.021,0.00111359,EXAC_OTH_AF,ALMS1
444585,2:73678578:G>A,NM_015120.4:c.4921G>A,NP_055935.4:p.Val1643Met,8/23,\N,Likely benign,\N,missense_variant,12.86,0.0000151529,EXAC_NFE_AF,ALMS1
444586,2:73678587:T>C,NM_015120.4:c.4930T>C,NP_055935.4:p.Ser1646Pro,8/23,\N,Likely benign,\N,missense_variant,5.924,0.001,1KG_EAS_AF,ALMS1
444587,2:73678588:C>A,NM_015120.4:c.4931C>A,NP_055935.4:p.Ser1646Ter,8/23,\N,Unknown significance,\N,stop_gained,34,0.000060584,EXAC_SAS_AF,ALMS1
444588,2:73678589:A>G,NM_015120.4:c.4932A>G,NP_055935.4:p.Ser1646=,8/23,\N,Unknown significance,\N,synonymous_variant,0.452,0.000104406,EXAC_AFR_AF,ALMS1
444589,2:73678592:T>G,NM_015120.4:c.4935T>G,NP_055935.4:p.Ala1647=,8/23,\N,Unknown significance,\N,synonymous_variant,4.238,0.000104341,EXAC_AFR_AF,ALMS1
444590,2:73678595:T>C,NM_015120.4:c.4938T>C,NP_055935.4:p.Ala1648=,8/23,\N,Unknown significance,\N,synonymous_variant,0.089,0.000116117,EXAC_EAS_AF,ALMS1
444591,2:73678596:C>A,NM_015120.4:c.4939C>A,NP_055935.4:p.Pro1649Thr,8/23,\N,Likely benign,\N,missense_variant,17.1,0.000260055,EXAC_AMR_AF,ALMS1
444592,2:73678597:C>G,NM_015120.4:c.4940C>G,NP_055935.4:p.Pro1649Arg,8/23,\N,Unknown significance,\N,missense_variant,23.1,0.000121655,EVS_EA_AF,ALMS1
444593,2:73678601:AC>A,NM_015120.4:c.4946del,NP_055935.4:p.Pro1651GlnfsTer40,8/23,\N,Unknown significance,\N,frameshift_variant,23.6,0.000116063,EXAC_EAS_AF,ALMS1
444594,2:73678602:C>T,NM_015120.4:c.4945C>T,NP_055935.4:p.Pro1651Ser,8/23,\N,Likely benign,\N,missense_variant,22.8,0.000104471,EXAC_AFR_AF,ALMS1
444595,2:73678608:G>C,NM_015120.4:c.4951G>C,NP_055935.4:p.Asp1653His,8/23,\N,Unknown significance,\N,missense_variant,23.1,0.0000151277,EXAC_NFE_AF,ALMS1
444596,2:73678610:C>T,NM_015120.4:c.4953C>T,NP_055935.4:p.Asp1653=,8/23,\N,Unknown significance,\N,synonymous_variant,6.962,0.0000151258,EXAC_NFE_AF,ALMS1
444597,2:73678612:A>G,NM_015120.4:c.4955A>G,NP_055935.4:p.Gln1654Arg,8/23,\N,Unknown significance,\N,missense_variant,22.6,0.000121625,EVS_EA_AF,ALMS1
444598,2:73678613:G>A,NM_015120.4:c.4956G>A,NP_055935.4:p.Gln1654=,8/23,\N,Unknown significance,\N,synonymous_variant,1.528,0.001,1KG_SAS_AF,ALMS1
444599,2:73678616:G>T,NM_015120.4:c.4959G>T,NP_055935.4:p.Lys1655Asn,8/23,\N,Benign,\N,missense_variant,14.09,0.195215,EXAC_AMR_AF,ALMS1
444600,2:73678622:G>A,NM_015120.4:c.4965G>A,NP_055935.4:p.Glu1657=,8/23,\N,Unknown significance,\N,synonymous_variant,1.852,0.0000865801,EXAC_AMR_AF,ALMS1
444601,2:73678625:A>G,NM_015120.4:c.4968A>G,NP_055935.4:p.Thr1658=,8/23,\N,Unknown significance,\N,synonymous_variant,0.117,0.0000151126,EXAC_NFE_AF,ALMS1
444602,2:73678630:C>A,NM_015120.4:c.4973C>A,NP_055935.4:p.Pro1660Gln,8/23,\N,Likely benign,\N,missense_variant,13.64,0.002,1KG_EAS_AF,ALMS1
444603,2:73678635:C>T,NM_015120.4:c.4978C>T,NP_055935.4:p.His1662Tyr,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000151085,EXAC_NFE_AF,ALMS1
444604,2:73678639:C>G,NM_015120.4:c.4982C>G,NP_055935.4:p.Ser1663Cys,8/23,\N,Unknown significance,\N,missense_variant,21.4,0.000181708,EXAC_SAS_AF,ALMS1
444605,2:73678641:A>G,NM_015120.4:c.4984A>G,NP_055935.4:p.Thr1664Ala,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000120817,EXAC_NFE_AF,ALMS1
444606,2:73678642:C>T,NM_015120.4:c.4985C>T,NP_055935.4:p.Thr1664Ile,8/23,\N,Benign,\N,missense_variant,0.055,0.00972973,EVS_AA_AF,ALMS1
444607,2:73678643:T>C,NM_015120.4:c.4986T>C,NP_055935.4:p.Thr1664=,8/23,\N,Unknown significance,\N,synonymous_variant,0.797,0.0000150998,EXAC_NFE_AF,ALMS1
444608,2:73678649:C>T,NM_015120.4:c.4992C>T,NP_055935.4:p.Tyr1666=,8/23,\N,Unknown significance,\N,synonymous_variant,2.119,0.000463929,EXAC_EAS_AF,ALMS1
444609,2:73678651:C>G,NM_015120.4:c.4994C>G,NP_055935.4:p.Ser1667Ter,8/23,\N,Unknown significance,\N,stop_gained,34,0.000116009,EXAC_EAS_AF,ALMS1
444610,2:73678660:G>A,NM_015120.4:c.5003G>A,NP_055935.4:p.Gly1670Glu,8/23,\N,Likely benign,\N,missense_variant,0.002,\N,\N,ALMS1
444611,2:73678671:A>AT,NM_015120.4:c.5018dup,NP_055935.4:p.Tyr1676LeufsTer12,8/23,\N,Unknown significance,\N,frameshift_variant,23.4,0.0000150313,EXAC_NFE_AF,ALMS1
444612,2:73678671:A>G,NM_015120.4:c.5014A>G,NP_055935.4:p.Ile1674Val,8/23,\N,Likely benign,\N,missense_variant,0.013,0.000102543,EXAC_AFR_AF,ALMS1
444613,2:73678689:C>G,NM_015120.4:c.5032C>G,NP_055935.4:p.Leu1680Val,8/23,\N,Likely benign,\N,missense_variant,17.36,0.0000450383,EXAC_NFE_AF,ALMS1
444614,2:73678692:T>G,NM_015120.4:c.5035T>G,NP_055935.4:p.Ser1681Ala,8/23,\N,Likely benign,\N,missense_variant,0.01,\N,\N,ALMS1
444615,2:73678696:A>G,NM_015120.4:c.5039A>G,NP_055935.4:p.Asp1682Gly,8/23,\N,Likely benign,\N,missense_variant,0.511,0.000060562,EXAC_SAS_AF,ALMS1
444616,2:73678698:A>C,NM_015120.4:c.5041A>C,NP_055935.4:p.Ser1683Arg,8/23,\N,Likely benign,\N,missense_variant,11.93,0.000121124,EXAC_SAS_AF,ALMS1
444617,2:73678725:G>A,NM_015120.4:c.5068G>A,NP_055935.4:p.Val1692Ile,8/23,\N,Likely benign,\N,missense_variant,12.03,\N,\N,ALMS1
444618,2:73678728:C>T,NM_015120.4:c.5071C>T,NP_055935.4:p.Pro1693Ser,8/23,\N,Likely benign,\N,missense_variant,0.002,0.000242307,EXAC_SAS_AF,ALMS1
444619,2:73678732:C>T,NM_015120.4:c.5075C>T,NP_055935.4:p.Pro1694Leu,8/23,\N,Likely benign,\N,missense_variant,6.674,\N,\N,ALMS1
444620,2:73678733:T>C,NM_015120.4:c.5076T>C,NP_055935.4:p.Pro1694=,8/23,\N,Unknown significance,\N,synonymous_variant,0.189,0.0000899523,EXAC_NFE_AF,ALMS1
444621,2:73678738:C>T,NM_015120.4:c.5081C>T,NP_055935.4:p.Pro1696Leu,8/23,\N,Likely benign,\N,missense_variant,12.06,0.0000149916,EXAC_NFE_AF,ALMS1
444622,2:73678741:G>A,NM_015120.4:c.5084G>A,NP_055935.4:p.Gly1697Glu,8/23,\N,Likely benign,\N,missense_variant,0.464,0.000029985,EXAC_NFE_AF,ALMS1
444623,2:73678750:C>G,NM_015120.4:c.5093C>G,NP_055935.4:p.Ala1700Gly,8/23,\N,Unknown significance,\N,missense_variant,2.078,0.0000605767,EXAC_SAS_AF,ALMS1
444624,2:73678761:G>A,NM_015120.4:c.5104G>A,NP_055935.4:p.Glu1704Lys,8/23,\N,Likely benign,\N,missense_variant,3.497,0.000265111,EVS_AA_AF,ALMS1
444625,2:73678765:C>T,NM_015120.4:c.5108C>T,NP_055935.4:p.Thr1705Ile,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000605694,EXAC_SAS_AF,ALMS1
444626,2:73678772:A>G,NM_015120.4:c.5115A>G,NP_055935.4:p.Ser1707=,8/23,\N,Unknown significance,\N,synonymous_variant,0.106,0.0000149912,EXAC_NFE_AF,ALMS1
444627,2:73678779:T>G,NM_015120.4:c.5122T>G,NP_055935.4:p.Ser1710Ala,8/23,\N,Likely benign,\N,missense_variant,12.96,0.0000605694,EXAC_SAS_AF,ALMS1
444628,2:73678786:T>G,NM_015120.4:c.5129T>G,NP_055935.4:p.Leu1712Ter,8/23,\N,Unknown significance,\N,stop_gained,32,0.0000149925,EXAC_NFE_AF,ALMS1
444629,2:73678790:C>T,NM_015120.4:c.5133C>T,NP_055935.4:p.Tyr1713=,8/23,\N,Unknown significance,\N,synonymous_variant,4.474,0.000116009,EXAC_EAS_AF,ALMS1
444630,2:73678795:A>G,NM_015120.4:c.5138A>G,NP_055935.4:p.Tyr1715Cys,8/23,\N,Likely benign,\N,missense_variant,9.403,0.00015124,EXAC_FIN_AF,ALMS1
444631,2:73678796:T>G,NM_015120.4:c.5139T>G,NP_055935.4:p.Tyr1715Ter,8/23,\N,Likely pathogenic,Alstrom syndrome,stop_gained,24.1,0.0000299823,EXAC_NFE_AF,ALMS1
444632,2:73678797:A>G,NM_015120.4:c.5140A>G,NP_055935.4:p.Arg1716Gly,8/23,\N,Likely benign,\N,missense_variant,0.013,0.000116009,EXAC_EAS_AF,ALMS1
444633,2:73678801:A>G,NM_015120.4:c.5144A>G,NP_055935.4:p.Glu1717Gly,8/23,\N,Likely benign,\N,missense_variant,5.484,0.0000299823,EXAC_NFE_AF,ALMS1
444634,2:73678805:G>C,NM_015120.4:c.5148G>C,NP_055935.4:p.Lys1718Asn,8/23,\N,Likely benign,\N,missense_variant,22.6,\N,\N,ALMS1
444635,2:73678820:C>T,NM_015120.4:c.5163C>T,NP_055935.4:p.Tyr1723=,8/23,\N,Unknown significance,\N,synonymous_variant,2.588,0.000242277,EXAC_SAS_AF,ALMS1
444636,2:73678821:C>CA,NM_015120.4:c.5166dup,NP_055935.4:p.Gln1725ThrfsTer7,8/23,\N,Unknown significance,\N,frameshift_variant,24.6,0.000102208,EXAC_AFR_AF,ALMS1
444637,2:73678823:A>G,NM_015120.4:c.5166A>G,NP_055935.4:p.Gln1724=,8/23,\N,Benign,\N,synonymous_variant,0.244,0.0719,1KG_AFR_AF,ALMS1
444638,2:73678827:G>T,NM_015120.4:c.5170G>T,NP_055935.4:p.Ala1726Ser,8/23,\N,Likely benign,\N,missense_variant,10.92,0.0000149952,EXAC_NFE_AF,ALMS1
444639,2:73678828:C>A,NM_015120.4:c.5171C>A,NP_055935.4:p.Ala1726Asp,8/23,\N,Likely benign,\N,missense_variant,4.011,0.0000149952,EXAC_NFE_AF,ALMS1
444640,2:73678830:C>T,NM_015120.4:c.5173C>T,NP_055935.4:p.Leu1727=,8/23,\N,Unknown significance,\N,synonymous_variant,8.18,0.000122011,EVS_EA_AF,ALMS1
444641,2:73678843:A>G,NM_015120.4:c.5186A>G,NP_055935.4:p.Glu1731Gly,8/23,\N,Likely benign,\N,missense_variant,4.155,0.004,1KG_EUR_AF,ALMS1
444642,2:73678848:A>T,NM_015120.4:c.5191A>T,NP_055935.4:p.Thr1733Ser,8/23,\N,Likely benign,\N,missense_variant,9.613,0.000121862,EVS_EA_AF,ALMS1
444643,2:73678851:C>G,NM_015120.4:c.5194C>G,NP_055935.4:p.Gln1734Glu,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000866701,EXAC_AMR_AF,ALMS1
444644,2:73678853:A>G,NM_015120.4:c.5196A>G,NP_055935.4:p.Gln1734=,8/23,\N,Unknown significance,\N,synonymous_variant,0.049,0.000121773,EVS_EA_AF,ALMS1
444645,2:73678857:G>A,NM_015120.4:c.5200G>A,NP_055935.4:p.Ala1736Thr,8/23,\N,Likely benign,\N,missense_variant,0.056,0.0000149943,EXAC_NFE_AF,ALMS1
444646,2:73678858:C>T,NM_015120.4:c.5201C>T,NP_055935.4:p.Ala1736Val,8/23,\N,Likely benign,\N,missense_variant,7.199,0.0000866101,EXAC_AMR_AF,ALMS1
444647,2:73678862:G>C,NM_015120.4:c.5205G>C,NP_055935.4:p.Leu1737=,8/23,\N,Unknown significance,\N,synonymous_variant,2.159,0.000102333,EXAC_AFR_AF,ALMS1
444648,2:73678866:G>A,NM_015120.4:c.5209G>A,NP_055935.4:p.Val1739Ile,8/23,\N,Unknown significance,\N,missense_variant,15.2,0.000121124,EXAC_SAS_AF,ALMS1
444649,2:73678870:C>T,NM_015120.4:c.5213C>T,NP_055935.4:p.Ser1740Leu,8/23,\N,Likely benign,\N,missense_variant,8.447,0.0000866701,EXAC_AMR_AF,ALMS1
444650,2:73678883:A>G,NM_015120.4:c.5226A>G,NP_055935.4:p.Gln1744=,8/23,\N,Unknown significance,\N,synonymous_variant,8.079,0.000060562,EXAC_SAS_AF,ALMS1
444651,2:73678889:T>C,NM_015120.4:c.5232T>C,NP_055935.4:p.Ala1746=,8/23,\N,Unknown significance,\N,synonymous_variant,1.718,0.0000300012,EXAC_NFE_AF,ALMS1
444652,2:73678899:A>G,NM_015120.4:c.5242A>G,NP_055935.4:p.Thr1750Ala,8/23,\N,Benign,\N,missense_variant,15.69,0.0174,1KG_SAS_AF,ALMS1
444653,2:73678903:G>A,NM_015120.4:c.5246G>A,NP_055935.4:p.Gly1751Glu,8/23,\N,Unknown significance,\N,missense_variant,23.6,0.0000605767,EXAC_SAS_AF,ALMS1
444654,2:73678903:G>C,NM_015120.4:c.5246G>C,NP_055935.4:p.Gly1751Ala,8/23,\N,Unknown significance,\N,missense_variant,22.6,0.00015124,EXAC_FIN_AF,ALMS1
444655,2:73678903:G>T,NM_015120.4:c.5246G>T,NP_055935.4:p.Gly1751Val,8/23,\N,Unknown significance,\N,missense_variant,23.7,0.0000605767,EXAC_SAS_AF,ALMS1
444656,2:73678911:A>T,NM_015120.4:c.5254A>T,NP_055935.4:p.Thr1754Ser,8/23,\N,Likely benign,\N,missense_variant,0.068,0.000116009,EXAC_EAS_AF,ALMS1
444657,2:73678914:G>A,NM_015120.4:c.5257G>A,NP_055935.4:p.Val1755Ile,8/23,\N,Likely benign,\N,missense_variant,0.647,0.0000150096,EXAC_NFE_AF,ALMS1
444658,2:73678921:C>G,NM_015120.4:c.5264C>G,NP_055935.4:p.Ser1757Cys,8/23,\N,Unknown significance,\N,missense_variant,22.7,0.000693361,EXAC_AMR_AF,ALMS1
444659,2:73678930:A>G,NM_015120.4:c.5273A>G,NP_055935.4:p.Tyr1760Cys,8/23,\N,Unknown significance,\N,missense_variant,23.1,0.00111359,EXAC_OTH_AF,ALMS1
444660,2:73678933:C>T,NM_015120.4:c.5276C>T,NP_055935.4:p.Ser1761Leu,8/23,\N,Likely benign,\N,missense_variant,24.3,0.0000866852,EXAC_AMR_AF,ALMS1
444661,2:73678936:A>G,NM_015120.4:c.5279A>G,NP_055935.4:p.His1762Arg,8/23,\N,Likely benign,\N,missense_variant,0.005,0.000060562,EXAC_SAS_AF,ALMS1
444662,2:73678936:A>T,NM_015120.4:c.5279A>T,NP_055935.4:p.His1762Leu,8/23,\N,Likely benign,\N,missense_variant,0.01,0.0000150164,EXAC_NFE_AF,ALMS1
444663,2:73678938:A>G,NM_015120.4:c.5281A>G,NP_055935.4:p.Thr1763Ala,8/23,\N,Likely benign,\N,missense_variant,0.369,0.001,1KG_EAS_AF,ALMS1
444664,2:73678947:C>G,NM_015120.4:c.5290C>G,NP_055935.4:p.Pro1766Ala,8/23,\N,Unknown significance,\N,missense_variant,19.82,0.000060562,EXAC_SAS_AF,ALMS1
444665,2:73678951:A>G,NM_015120.4:c.5294A>G,NP_055935.4:p.Asn1767Ser,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0014,1KG_AMR_AF,ALMS1
444666,2:73678955:T>G,NM_015120.4:c.5298T>G,NP_055935.4:p.Ile1768Met,8/23,\N,Unknown significance,\N,missense_variant,19.91,\N,\N,ALMS1
444667,2:73678958:T>C,NM_015120.4:c.5301T>C,NP_055935.4:p.Ser1769=,8/23,\N,Unknown significance,\N,synonymous_variant,0.025,0.0000605694,EXAC_SAS_AF,ALMS1
444668,2:73678961:C>T,NM_015120.4:c.5304C>T,NP_055935.4:p.Tyr1770=,8/23,\N,Unknown significance,\N,synonymous_variant,3.186,0.0000150304,EXAC_NFE_AF,ALMS1
444669,2:73678964:G>A,NM_015120.4:c.5307G>A,NP_055935.4:p.Gln1771=,8/23,\N,Unknown significance,\N,synonymous_variant,0.333,\N,\N,ALMS1
444670,2:73678977:G>C,NM_015120.4:c.5320G>C,NP_055935.4:p.Asp1776His,8/23,\N,Unknown significance,\N,missense_variant,23.4,0.00017325,EXAC_AMR_AF,ALMS1
444671,2:73678979:T>A,NM_015120.4:c.5322T>A,NP_055935.4:p.Asp1776Glu,8/23,\N,Likely benign,\N,missense_variant,22.9,0.000103541,EXAC_AFR_AF,ALMS1
444672,2:73678981:G>A,NM_015120.4:c.5324G>A,NP_055935.4:p.Ser1777Asn,8/23,\N,Likely benign,\N,missense_variant,0.294,0.001,1KG_EAS_AF,ALMS1
444673,2:73678982:T>C,NM_015120.4:c.5325T>C,NP_055935.4:p.Ser1777=,8/23,\N,Unknown significance,\N,synonymous_variant,0.892,0.00017313,EXAC_AMR_AF,ALMS1
444674,2:73678985:T>C,NM_015120.4:c.5328T>C,NP_055935.4:p.His1778=,8/23,\N,Unknown significance,\N,synonymous_variant,0.031,0.0000150326,EXAC_NFE_AF,ALMS1
444675,2:73678986:C>G,NM_015120.4:c.5329C>G,NP_055935.4:p.Leu1779Val,8/23,\N,Likely benign,\N,missense_variant,20.2,0.000115982,EXAC_EAS_AF,ALMS1
444676,2:73678986:C>T,NM_015120.4:c.5329C>T,NP_055935.4:p.Leu1779=,8/23,\N,Unknown significance,\N,synonymous_variant,8.259,0.0008,1KG_AFR_AF,ALMS1
444677,2:73678999:C>T,NM_015120.4:c.5342C>T,NP_055935.4:p.Ala1783Val,8/23,\N,Likely benign,\N,missense_variant,11.12,\N,\N,ALMS1
444678,2:73679001:C>T,NM_015120.4:c.5344C>T,NP_055935.4:p.Leu1784=,8/23,\N,Unknown significance,\N,synonymous_variant,8.33,0.0014,1KG_AMR_AF,ALMS1
444679,2:73679013:A>G,NM_015120.4:c.5356A>G,NP_055935.4:p.Asn1788Asp,8/23,\N,Benign,\N,missense_variant,0.001,0.0353795,EXAC_FIN_AF,ALMS1
444680,2:73679025:C>T,NM_015120.4:c.5368C>T,NP_055935.4:p.Pro1792Ser,8/23,\N,Likely benign,\N,missense_variant,0.28,0.000060562,EXAC_SAS_AF,ALMS1
444681,2:73679028:G>A,NM_015120.4:c.5371G>A,NP_055935.4:p.Ala1793Thr,8/23,\N,Likely benign,\N,missense_variant,2.671,0.0015,1KG_AFR_AF,ALMS1
444682,2:73679029:C>T,NM_015120.4:c.5372C>T,NP_055935.4:p.Ala1793Val,8/23,\N,Likely benign,\N,missense_variant,13.89,0.0015,1KG_AFR_AF,ALMS1
444683,2:73679034:C>T,NM_015120.4:c.5377C>T,NP_055935.4:p.Gln1795Ter,8/23,\N,Unknown significance,\N,stop_gained,34,0.000103756,EXAC_AFR_AF,ALMS1
444684,2:73679055:G>C,NM_015120.4:c.5398G>C,NP_055935.4:p.Val1802Leu,8/23,\N,Likely benign,\N,missense_variant,8.828,0.0000150494,EXAC_NFE_AF,ALMS1
444685,2:73679062:C>T,NM_015120.4:c.5405C>T,NP_055935.4:p.Ser1804Phe,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.000115955,EXAC_EAS_AF,ALMS1
444686,2:73679071:A>C,NM_015120.4:c.5414A>C,NP_055935.4:p.Tyr1807Ser,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.000121655,EVS_EA_AF,ALMS1
444687,2:73679071:A>G,NM_015120.4:c.5414A>G,NP_055935.4:p.Tyr1807Cys,8/23,\N,Unknown significance,\N,missense_variant,13.52,0.001,1KG_EAS_AF,ALMS1
444688,2:73679072:C>T,NM_015120.4:c.5415C>T,NP_055935.4:p.Tyr1807=,8/23,\N,Unknown significance,\N,synonymous_variant,5.602,0.000060562,EXAC_SAS_AF,ALMS1
444689,2:73679082:G>A,NM_015120.4:c.5425G>A,NP_055935.4:p.Glu1811Lys,8/23,\N,Unknown significance,\N,missense_variant,23.9,0.0000864753,EXAC_AMR_AF,ALMS1
444690,2:73679084:G>A,NM_015120.4:c.5427G>A,NP_055935.4:p.Glu1811=,8/23,\N,Unknown significance,\N,synonymous_variant,5.716,\N,\N,ALMS1
444691,2:73679085:A>G,NM_015120.4:c.5428A>G,NP_055935.4:p.Lys1812Glu,8/23,\N,Likely benign,\N,missense_variant,11.39,0.000060562,EXAC_SAS_AF,ALMS1
444692,2:73679087:G>C,NM_015120.4:c.5430G>C,NP_055935.4:p.Lys1812Asn,8/23,\N,Benign,\N,missense_variant,11.82,0.0386,1KG_AFR_AF,ALMS1
444693,2:73679098:C>T,NM_015120.4:c.5441C>T,NP_055935.4:p.Ser1816Phe,8/23,\N,Likely benign,\N,missense_variant,4.982,\N,\N,ALMS1
444694,2:73679100:T>C,NM_015120.4:c.5443T>C,NP_055935.4:p.Tyr1817His,8/23,\N,Unknown significance,\N,missense_variant,14.06,\N,\N,ALMS1
444695,2:73679101:A>G,NM_015120.4:c.5444A>G,NP_055935.4:p.Tyr1817Cys,8/23,\N,Unknown significance,\N,missense_variant,23.5,0.000259426,EXAC_AMR_AF,ALMS1
444696,2:73679106:C>T,NM_015120.4:c.5449C>T,NP_055935.4:p.Arg1819Ter,8/23,\N,Unknown significance,\N,stop_gained,35,0.0000865202,EXAC_AMR_AF,ALMS1
444697,2:73679107:G>A,NM_015120.4:c.5450G>A,NP_055935.4:p.Arg1819Gln,8/23,\N,Likely benign,\N,missense_variant,0.451,0.000060562,EXAC_SAS_AF,ALMS1
444698,2:73679107:G>T,NM_015120.4:c.5450G>T,NP_055935.4:p.Arg1819Leu,8/23,\N,Likely benign,\N,missense_variant,18.37,0.000271076,EXAC_NFE_AF,ALMS1
444699,2:73679108:A>C,NM_015120.4:c.5451A>C,NP_055935.4:p.Arg1819=,8/23,\N,Unknown significance,\N,synonymous_variant,0.063,0.000103029,EXAC_AFR_AF,ALMS1
444700,2:73679114:GC>G,NM_015120.4:c.5459del,NP_055935.4:p.Pro1822ArgfsTer8,8/23,\N,Unknown significance,\N,frameshift_variant,23.7,\N,\N,ALMS1
444701,2:73679116:C>T,NM_015120.4:c.5459C>T,NP_055935.4:p.Pro1822Leu,8/23,\N,Likely benign,\N,missense_variant,24.5,0.0043,1KG_AMR_AF,ALMS1
444702,2:73679117:G>A,NM_015120.4:c.5460G>A,NP_055935.4:p.Pro1822=,8/23,\N,Benign,\N,synonymous_variant,6.469,0.0293317,EXAC_FIN_AF,ALMS1
444703,2:73679120:T>A,NM_015120.4:c.5463T>A,NP_055935.4:p.His1823Gln,8/23,\N,Likely benign,\N,missense_variant,0.457,0.001,1KG_EUR_AF,ALMS1
444704,2:73679131:C>T,NM_015120.4:c.5474C>T,NP_055935.4:p.Ala1827Val,8/23,\N,Likely benign,\N,missense_variant,1.144,0.0000150657,EXAC_NFE_AF,ALMS1
444705,2:73679133:G>A,NM_015120.4:c.5476G>A,NP_055935.4:p.Gly1828Ser,8/23,\N,Likely benign,\N,missense_variant,3.383,0.0000605694,EXAC_SAS_AF,ALMS1
444706,2:73679138:G>T,NM_015120.4:c.5481G>T,NP_055935.4:p.Leu1829Phe,8/23,\N,Unknown significance,\N,missense_variant,20.3,0.00012222,EVS_EA_AF,ALMS1
444707,2:73679145:T>G,NM_015120.4:c.5488T>G,NP_055935.4:p.Leu1832Val,8/23,\N,Likely benign,\N,missense_variant,0.045,\N,\N,ALMS1
444708,2:73679174:G>A,NM_015120.4:c.5517G>A,NP_055935.4:p.Lys1841=,8/23,\N,Unknown significance,\N,synonymous_variant,9.214,0.000116036,EXAC_EAS_AF,ALMS1
444709,2:73679175:A>C,NM_015120.4:c.5518A>C,NP_055935.4:p.Thr1842Pro,8/23,\N,Unknown significance,\N,missense_variant,15.95,0.000116036,EXAC_EAS_AF,ALMS1
444710,2:73679176:C>G,NM_015120.4:c.5519C>G,NP_055935.4:p.Thr1842Ser,8/23,\N,Unknown significance,\N,missense_variant,23,0.0000150435,EXAC_NFE_AF,ALMS1
444711,2:73679186:C>T,NM_015120.4:c.5529C>T,NP_055935.4:p.Asn1845=,8/23,\N,Unknown significance,\N,synonymous_variant,5.686,0.000269833,EVS_AA_AF,ALMS1
444712,2:73679192:G>T,NM_015120.4:c.5535G>T,NP_055935.4:p.Leu1847=,8/23,\N,Unknown significance,\N,synonymous_variant,0.682,0.000173671,EXAC_AMR_AF,ALMS1
444713,2:73679193:C>A,NM_015120.4:c.5536C>A,NP_055935.4:p.Pro1848Thr,8/23,\N,Likely benign,\N,missense_variant,0.001,\N,\N,ALMS1
444714,2:73679196:T>A,NM_015120.4:c.5539T>A,NP_055935.4:p.Ser1849Thr,8/23,\N,Likely benign,\N,missense_variant,21.5,0.0000150304,EXAC_NFE_AF,ALMS1
444715,2:73679206:A>G,NM_015120.4:c.5549A>G,NP_055935.4:p.Tyr1852Cys,8/23,\N,Unknown significance,\N,missense_variant,23.8,0.0000150258,EXAC_NFE_AF,ALMS1
444716,2:73679210:A>G,NM_015120.4:c.5553A>G,NP_055935.4:p.Pro1853=,8/23,\N,Unknown significance,\N,synonymous_variant,0.226,0.00012219,EVS_EA_AF,ALMS1
444717,2:73679212:A>G,NM_015120.4:c.5555A>G,NP_055935.4:p.Gln1854Arg,8/23,\N,Likely benign,\N,missense_variant,0.594,0.001,1KG_SAS_AF,ALMS1
444718,2:73679219:G>A,NM_015120.4:c.5562G>A,NP_055935.4:p.Glu1856=,8/23,\N,Unknown significance,\N,synonymous_variant,2.326,0.001,1KG_SAS_AF,ALMS1
444719,2:73679220:C>G,NM_015120.4:c.5563C>G,NP_055935.4:p.His1857Asp,8/23,\N,Likely benign,\N,missense_variant,11.6,0.000173762,EXAC_AMR_AF,ALMS1
444720,2:73679224:C>CT,NM_015120.4:c.5568dup,NP_055935.4:p.Val1859CysfsTer5,8/23,\N,Unknown significance,\N,frameshift_variant,26.1,0.0000300084,EXAC_NFE_AF,ALMS1
444721,2:73679224:C>G,NM_015120.4:c.5567C>G,NP_055935.4:p.Ser1858Cys,8/23,\N,Unknown significance,\N,missense_variant,23.4,0.00012219,EVS_EA_AF,ALMS1
444722,2:73679224:C>T,NM_015120.4:c.5567C>T,NP_055935.4:p.Ser1858Phe,8/23,\N,Unknown significance,\N,missense_variant,24.1,0.0000605767,EXAC_SAS_AF,ALMS1
444723,2:73679228:C>G,NM_015120.4:c.5571C>G,NP_055935.4:p.Val1859=,8/23,\N,Unknown significance,\N,synonymous_variant,5.006,0.0000150047,EXAC_NFE_AF,ALMS1
444724,2:73679232:T>C,NM_015120.4:c.5575T>C,NP_055935.4:p.Ser1861Pro,8/23,\N,Unknown significance,\N,missense_variant,20.3,0.00012216,EVS_EA_AF,ALMS1
444725,2:73679233:C>T,NM_015120.4:c.5576C>T,NP_055935.4:p.Ser1861Phe,8/23,\N,Likely benign,\N,missense_variant,8.217,\N,\N,ALMS1
444726,2:73679236:A>G,NM_015120.4:c.5579A>G,NP_055935.4:p.Tyr1862Cys,8/23,\N,Unknown significance,\N,missense_variant,22.9,0.001,1KG_EAS_AF,ALMS1
444727,2:73679237:T>G,NM_015120.4:c.5580T>G,NP_055935.4:p.Tyr1862Ter,8/23,\N,Unknown significance,\N,stop_gained,33,0.0000605767,EXAC_SAS_AF,ALMS1
444728,2:73679241:C>T,NM_015120.4:c.5584C>T,NP_055935.4:p.Gln1864Ter,8/23,\N,Unknown significance,\N,stop_gained,28.7,0.0000150002,EXAC_NFE_AF,ALMS1
444729,2:73679247:T>G,NM_015120.4:c.5590T>G,NP_055935.4:p.Leu1866Val,8/23,\N,Unknown significance,\N,missense_variant,18.37,0.0000149988,EXAC_NFE_AF,ALMS1
444730,2:73679254:A>G,NM_015120.4:c.5597A>G,NP_055935.4:p.Asp1868Gly,8/23,\N,Likely benign,\N,missense_variant,13.86,0.0000149988,EXAC_NFE_AF,ALMS1
444731,2:73679262:G>A,NM_015120.4:c.5605G>A,NP_055935.4:p.Glu1871Lys,8/23,\N,Likely benign,\N,missense_variant,25.5,0.00012213,EVS_EA_AF,ALMS1
444732,2:73679266:T>G,NM_015120.4:c.5609T>G,NP_055935.4:p.Val1872Gly,8/23,\N,Likely benign,\N,missense_variant,9.738,0.000173974,EXAC_AMR_AF,ALMS1
444733,2:73679269:C>T,NM_015120.4:c.5612C>T,NP_055935.4:p.Thr1873Ile,8/23,\N,Likely benign,\N,missense_variant,15.72,0.000102103,EXAC_AFR_AF,ALMS1
444734,2:73679277:G>A,NM_015120.4:c.5620G>A,NP_055935.4:p.Ala1876Thr,8/23,\N,Likely benign,\N,missense_variant,0.174,0.000102103,EXAC_AFR_AF,ALMS1
444735,2:73679280:A>G,NM_015120.4:c.5623A>G,NP_055935.4:p.Ile1877Val,8/23,\N,Benign,\N,missense_variant,0.001,0.8585,1KG_AFR_AF,ALMS1
444736,2:73679281:T>G,NM_015120.4:c.5624T>G,NP_055935.4:p.Ile1877Arg,8/23,\N,Likely benign,\N,missense_variant,0.03,0.0000605694,EXAC_SAS_AF,ALMS1
444737,2:73679289:C>T,NM_015120.4:c.5632C>T,NP_055935.4:p.Pro1880Ser,8/23,\N,Likely benign,\N,missense_variant,11.75,0.00012216,EVS_EA_AF,ALMS1
444738,2:73679300:T>C,NM_015120.4:c.5643T>C,NP_055935.4:p.Ala1883=,8/23,\N,Unknown significance,\N,synonymous_variant,3.556,0.0000150015,EXAC_NFE_AF,ALMS1
444739,2:73679305:A>G,NM_015120.4:c.5648A>G,NP_055935.4:p.Gln1885Arg,8/23,\N,Likely benign,\N,missense_variant,13.25,0.0000872296,EXAC_AMR_AF,ALMS1
444740,2:73679330:C>A,NM_015120.4:c.5673C>A,NP_055935.4:p.Ser1893=,8/23,\N,Unknown significance,\N,synonymous_variant,14.91,0.0000150128,EXAC_NFE_AF,ALMS1
444741,2:73679335:G>T,NM_015120.4:c.5678G>T,NP_055935.4:p.Ser1895Ile,8/23,\N,Likely benign,\N,missense_variant,22.3,0.0000150137,EXAC_NFE_AF,ALMS1
444742,2:73679344:C>T,NM_015120.4:c.5687C>T,NP_055935.4:p.Ser1898Leu,8/23,\N,Likely benign,\N,missense_variant,22.4,0.000060584,EXAC_SAS_AF,ALMS1
444743,2:73679361:A>G,NM_015120.4:c.5704A>G,NP_055935.4:p.Ser1904Gly,8/23,\N,Likely benign,\N,missense_variant,8.377,0.0000150159,EXAC_NFE_AF,ALMS1
444744,2:73679362:G>A,NM_015120.4:c.5705G>A,NP_055935.4:p.Ser1904Asn,8/23,\N,Likely benign,\N,missense_variant,20.2,0.0002331,EXAC_EAS_AF,ALMS1
444745,2:73679375:G>A,NM_015120.4:c.5718G>A,NP_055935.4:p.Gln1908=,8/23,\N,Unknown significance,\N,synonymous_variant,9.799,\N,\N,ALMS1
444746,2:73679377:A>C,NM_015120.4:c.5720A>C,NP_055935.4:p.Gln1909Pro,8/23,\N,Unknown significance,\N,missense_variant,24,0.000015015,EXAC_NFE_AF,ALMS1
444747,2:73679378:G>C,NM_015120.4:c.5721G>C,NP_055935.4:p.Gln1909His,8/23,\N,Unknown significance,\N,missense_variant,23.8,0.000174368,EXAC_AMR_AF,ALMS1
444748,2:73679381:G>A,NM_015120.4:c.5724G>A,NP_055935.4:p.Glu1910=,8/23,\N,Unknown significance,\N,synonymous_variant,10.93,0.0000300291,EXAC_NFE_AF,ALMS1
444749,2:73679384:GC>G,NM_015120.4:c.5729del,NP_055935.4:p.Pro1912GlnfsTer8,8/23,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,ALMS1
444750,2:73679387:A>G,NM_015120.4:c.5730A>G,NP_055935.4:p.Pro1912=,8/23,\N,Unknown significance,\N,synonymous_variant,6.825,\N,\N,ALMS1
444751,2:73679388:G>T,NM_015120.4:c.5731G>T,NP_055935.4:p.Asp1913Tyr,8/23,\N,Likely benign,\N,missense_variant,24,0.000116659,EXAC_EAS_AF,ALMS1
444752,2:73679406:T>C,NM_015120.4:c.5749T>C,NP_055935.4:p.Leu1919=,8/23,\N,Unknown significance,\N,synonymous_variant,0.014,0.0000150141,EXAC_NFE_AF,ALMS1
444753,2:73679412:G>A,NM_015120.4:c.5755G>A,NP_055935.4:p.Val1921Ile,8/23,\N,Likely benign,\N,missense_variant,3.155,0.000121921,EVS_EA_AF,ALMS1
444754,2:73679415:T>C,NM_015120.4:c.5758T>C,NP_055935.4:p.Phe1922Leu,8/23,\N,Likely benign,\N,missense_variant,0.004,0.001,1KG_EAS_AF,ALMS1
444755,2:73679419:T>C,NM_015120.4:c.5762T>C,NP_055935.4:p.Val1923Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.000465875,EXAC_EAS_AF,ALMS1
444756,2:73679421:G>C,NM_015120.4:c.5764G>C,NP_055935.4:p.Val1924Leu,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000150114,EXAC_NFE_AF,ALMS1
444757,2:73679423:T>A,NM_015120.4:c.5766T>A,NP_055935.4:p.Val1924=,8/23,\N,Unknown significance,\N,synonymous_variant,4.103,0.000181752,EXAC_SAS_AF,ALMS1
444758,2:73679425:C>T,NM_015120.4:c.5768C>T,NP_055935.4:p.Pro1925Leu,8/23,\N,Unknown significance,\N,missense_variant,19.32,0.0000869716,EXAC_AMR_AF,ALMS1
444759,2:73679429:A>G,NM_015120.4:c.5772A>G,NP_055935.4:p.Gly1926=,8/23,\N,Unknown significance,\N,synonymous_variant,2.324,0.0000150114,EXAC_NFE_AF,ALMS1
444760,2:73679431:A>G,NM_015120.4:c.5774A>G,NP_055935.4:p.Gln1927Arg,8/23,\N,Unknown significance,\N,missense_variant,0.194,0.000265111,EVS_AA_AF,ALMS1
444761,2:73679440:G>A,NM_015120.4:c.5783G>A,NP_055935.4:p.Arg1930Gln,8/23,\N,Benign,\N,missense_variant,0.717,0.193217,EXAC_AMR_AF,ALMS1
444762,2:73679453:A>G,NM_015120.4:c.5796A>G,NP_055935.4:p.Ile1934Met,8/23,\N,Unknown significance,\N,missense_variant,22.9,0.0000150087,EXAC_NFE_AF,ALMS1
444763,2:73679454:C>T,NM_015120.4:c.5797C>T,NP_055935.4:p.Pro1935Ser,8/23,\N,Likely benign,\N,missense_variant,8.763,0.0008,1KG_AFR_AF,ALMS1
444764,2:73679460:G>A,NM_015120.4:c.5803G>A,NP_055935.4:p.Val1937Ile,8/23,\N,Likely benign,\N,missense_variant,0.01,0.0000606134,EXAC_SAS_AF,ALMS1
444765,2:73679463:C>G,NM_015120.4:c.5806C>G,NP_055935.4:p.Pro1938Ala,8/23,\N,Unknown significance,\N,missense_variant,11.5,0.000173853,EXAC_AMR_AF,ALMS1
444766,2:73679465:T>C,NM_015120.4:c.5808T>C,NP_055935.4:p.Pro1938=,8/23,\N,Unknown significance,\N,synonymous_variant,0.007,0.0000150105,EXAC_NFE_AF,ALMS1
444767,2:73679476:A>G,NM_015120.4:c.5819A>G,NP_055935.4:p.Tyr1942Cys,8/23,\N,Likely benign,\N,missense_variant,11.7,0.000533333,EVS_AA_AF,ALMS1
444768,2:73679479:C>T,NM_015120.4:c.5822C>T,NP_055935.4:p.Ser1943Leu,8/23,\N,Likely benign,\N,missense_variant,19.41,0.0000300246,EXAC_NFE_AF,ALMS1
444769,2:73679481:C>T,NM_015120.4:c.5824C>T,NP_055935.4:p.Arg1944Cys,8/23,\N,Likely benign,\N,missense_variant,23.9,0.0014,1KG_AMR_AF,ALMS1
444770,2:73679482:G>A,NM_015120.4:c.5825G>A,NP_055935.4:p.Arg1944His,8/23,\N,Likely benign,\N,missense_variant,0.121,0.003727,EXAC_EAS_AF,ALMS1
444771,2:73679482:G>T,NM_015120.4:c.5825G>T,NP_055935.4:p.Arg1944Leu,8/23,\N,Likely benign,\N,missense_variant,15.75,0.0015,1KG_AFR_AF,ALMS1
444772,2:73679489:G>A,NM_015120.4:c.5832G>A,NP_055935.4:p.Glu1946=,8/23,\N,Unknown significance,\N,synonymous_variant,4.414,0.001,1KG_SAS_AF,ALMS1
444773,2:73679496:A>G,NM_015120.4:c.5839A>G,NP_055935.4:p.Ser1949Gly,8/23,\N,Likely benign,\N,missense_variant,0.569,0.000347887,EXAC_AMR_AF,ALMS1
444774,2:73679502:A>G,NM_015120.4:c.5845A>G,NP_055935.4:p.Ile1951Val,8/23,\N,Likely benign,\N,missense_variant,0.003,0.001,1KG_EAS_AF,ALMS1
444775,2:73679503:T>C,NM_015120.4:c.5846T>C,NP_055935.4:p.Ile1951Thr,8/23,\N,Likely benign,\N,missense_variant,0.046,0.0000606061,EXAC_SAS_AF,ALMS1
444776,2:73679525:C>T,NM_015120.4:c.5868C>T,NP_055935.4:p.Asp1958=,8/23,\N,Unknown significance,\N,synonymous_variant,6.249,0.0000606134,EXAC_SAS_AF,ALMS1
444777,2:73679531:T>A,NM_015120.4:c.5874T>A,NP_055935.4:p.His1960Gln,8/23,\N,Unknown significance,\N,missense_variant,12.54,\N,\N,ALMS1
444778,2:73679541:G>A,NM_015120.4:c.5884G>A,NP_055935.4:p.Glu1964Lys,8/23,\N,Likely benign,\N,missense_variant,16.82,0.0000150335,EXAC_NFE_AF,ALMS1
444779,2:73679559:C>G,NM_015120.4:c.5902C>G,NP_055935.4:p.Pro1970Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.00017449,EXAC_AMR_AF,ALMS1
444780,2:73679562:G>T,NM_015120.4:c.5905G>T,NP_055935.4:p.Val1971Phe,8/23,\N,Likely benign,\N,missense_variant,12.92,0.0000300734,EXAC_NFE_AF,ALMS1
444781,2:73679563:T>C,NM_015120.4:c.5906T>C,NP_055935.4:p.Val1971Ala,8/23,\N,Likely benign,\N,missense_variant,0.079,0.0000150358,EXAC_NFE_AF,ALMS1
444782,2:73679571:C>A,NM_015120.4:c.5914C>A,NP_055935.4:p.Pro1974Thr,8/23,\N,Likely benign,\N,missense_variant,1.826,0.0000606134,EXAC_SAS_AF,ALMS1
444783,2:73679571:C>T,NM_015120.4:c.5914C>T,NP_055935.4:p.Pro1974Ser,8/23,\N,Likely benign,\N,missense_variant,3.605,0.000116713,EXAC_EAS_AF,ALMS1
444784,2:73679572:C>A,NM_015120.4:c.5915C>A,NP_055935.4:p.Pro1974Gln,8/23,\N,Likely benign,\N,missense_variant,22.8,0.00048852,EVS_EA_AF,ALMS1
444785,2:73679573:A>G,NM_015120.4:c.5916A>G,NP_055935.4:p.Pro1974=,8/23,\N,Unknown significance,\N,synonymous_variant,0.807,\N,\N,ALMS1
444786,2:73679575:C>G,NM_015120.4:c.5918C>G,NP_055935.4:p.Ala1975Gly,8/23,\N,Likely benign,\N,missense_variant,11.86,0.0014,1KG_AMR_AF,ALMS1
444787,2:73679576:AG>A,NM_015120.4:c.5920del,NP_055935.4:p.Glu1976SerfsTer8,8/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
444788,2:73679578:A>G,NM_015120.4:c.5921A>G,NP_055935.4:p.Glu1976Gly,8/23,\N,Unknown significance,\N,missense_variant,16.26,0.000151332,EXAC_FIN_AF,ALMS1
444789,2:73679580:C>G,NM_015120.4:c.5923C>G,NP_055935.4:p.Gln1977Glu,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.001,1KG_SAS_AF,ALMS1
444790,2:73679581:A>G,NM_015120.4:c.5924A>G,NP_055935.4:p.Gln1977Arg,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.001,1KG_EUR_AF,ALMS1
444791,2:73679591:G>C,NM_015120.4:c.5934G>C,NP_055935.4:p.Gly1980=,8/23,\N,Unknown significance,\N,synonymous_variant,0.663,0.0000300743,EXAC_NFE_AF,ALMS1
444792,2:73679592:A>G,NM_015120.4:c.5935A>G,NP_055935.4:p.Ile1981Val,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000150353,EXAC_NFE_AF,ALMS1
444793,2:73679610:A>G,NM_015120.4:c.5953A>G,NP_055935.4:p.Ser1987Gly,8/23,\N,Likely benign,\N,missense_variant,0.311,0.0000150299,EXAC_NFE_AF,ALMS1
444794,2:73679611:G>T,NM_015120.4:c.5954G>T,NP_055935.4:p.Ser1987Ile,8/23,\N,Unknown significance,\N,missense_variant,16.08,0.0000150317,EXAC_NFE_AF,ALMS1
444795,2:73679617:A>G,NM_015120.4:c.5960A>G,NP_055935.4:p.Tyr1989Cys,8/23,\N,Likely benign,\N,missense_variant,10.49,0.000015029,EXAC_NFE_AF,ALMS1
444796,2:73679620:C>T,NM_015120.4:c.5963C>T,NP_055935.4:p.Ser1990Leu,8/23,\N,Likely benign,\N,missense_variant,19.42,0.0000606061,EXAC_SAS_AF,ALMS1
444797,2:73679622:C>T,NM_015120.4:c.5965C>T,NP_055935.4:p.His1991Tyr,8/23,\N,Likely benign,\N,missense_variant,13.91,0.0000150286,EXAC_NFE_AF,ALMS1
444798,2:73679623:A>G,NM_015120.4:c.5966A>G,NP_055935.4:p.His1991Arg,8/23,\N,Likely benign,\N,missense_variant,11.92,0.0000606061,EXAC_SAS_AF,ALMS1
444799,2:73679625:T>G,NM_015120.4:c.5968T>G,NP_055935.4:p.Ser1992Ala,8/23,\N,Likely benign,\N,missense_variant,1.018,0.0000606134,EXAC_SAS_AF,ALMS1
444800,2:73679627:A>G,NM_015120.4:c.5970A>G,NP_055935.4:p.Ser1992=,8/23,\N,Unknown significance,\N,synonymous_variant,0.033,0.000121951,EVS_EA_AF,ALMS1
444801,2:73679629:A>C,NM_015120.4:c.5972A>C,NP_055935.4:p.His1993Pro,8/23,\N,Likely benign,\N,missense_variant,0.028,0.000015024,EXAC_NFE_AF,ALMS1
444802,2:73679632:A>C,NM_015120.4:c.5975A>C,NP_055935.4:p.Lys1994Thr,8/23,\N,Likely benign,\N,missense_variant,0.663,0.0000606061,EXAC_SAS_AF,ALMS1
444803,2:73679632:A>G,NM_015120.4:c.5975A>G,NP_055935.4:p.Lys1994Arg,8/23,\N,Likely benign,\N,missense_variant,9.951,0.0000600943,EXAC_NFE_AF,ALMS1
444804,2:73679636:G>A,NM_015120.4:c.5979G>A,NP_055935.4:p.Glu1995=,8/23,\N,Unknown significance,\N,synonymous_variant,6.031,0.0014,1KG_AMR_AF,ALMS1
444805,2:73679644:A>G,NM_015120.4:c.5987A>G,NP_055935.4:p.Lys1998Arg,8/23,\N,Likely benign,\N,missense_variant,22.9,0.0008,1KG_AFR_AF,ALMS1
444806,2:73679648:T>A,NM_015120.4:c.5991T>A,NP_055935.4:p.Ile1999=,8/23,\N,Unknown significance,\N,synonymous_variant,10.14,0.0000866401,EXAC_AMR_AF,ALMS1
444807,2:73679648:T>G,NM_015120.4:c.5991T>G,NP_055935.4:p.Ile1999Met,8/23,\N,Unknown significance,\N,missense_variant,22.9,0.000232666,EXAC_EAS_AF,ALMS1
444808,2:73679652:A>G,NM_015120.4:c.5995A>G,NP_055935.4:p.Thr2001Ala,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000150177,EXAC_NFE_AF,ALMS1
444809,2:73679655:G>A,NM_015120.4:c.5998G>A,NP_055935.4:p.Val2002Met,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.0000150182,EXAC_NFE_AF,ALMS1
444810,2:73679655:G>T,NM_015120.4:c.5998G>T,NP_055935.4:p.Val2002Leu,8/23,\N,Likely benign,\N,missense_variant,12.19,0.000302572,EXAC_FIN_AF,ALMS1
444811,2:73679657:G>C,NM_015120.4:c.6000G>C,NP_055935.4:p.Val2002=,8/23,\N,Unknown significance,\N,synonymous_variant,0.168,0.000116279,EXAC_EAS_AF,ALMS1
444812,2:73679658:C>CATAT,NM_015120.4:c.6003_6006dup,NP_055935.4:p.Pro2005TyrfsTer4,8/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
444813,2:73679661:A>G,NM_015120.4:c.6004A>G,NP_055935.4:p.Ile2004Val,8/23,\N,Benign,\N,missense_variant,0.001,0.0126971,EXAC_AFR_AF,ALMS1
444814,2:73679685:T>C,NM_015120.4:c.6028T>C,NP_055935.4:p.Phe2012Leu,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000150168,EXAC_NFE_AF,ALMS1
444815,2:73679686:T>G,NM_015120.4:c.6029T>G,NP_055935.4:p.Phe2012Cys,8/23,\N,Unknown significance,\N,missense_variant,22.9,0.0000150159,EXAC_NFE_AF,ALMS1
444816,2:73679689:C>T,NM_015120.4:c.6032C>T,NP_055935.4:p.Pro2013Leu,8/23,\N,Likely benign,\N,missense_variant,0.235,0.0000865202,EXAC_AMR_AF,ALMS1
444817,2:73679693:A>G,NM_015120.4:c.6036A>G,NP_055935.4:p.Ala2014=,8/23,\N,Unknown significance,\N,synonymous_variant,1.496,0.0000150177,EXAC_NFE_AF,ALMS1
444818,2:73679701:T>TTA,NM_015120.4:c.6045_6046dup,NP_055935.4:p.Ser2018IlefsTer7,8/23,\N,Unknown significance,\N,frameshift_variant,23.7,\N,\N,ALMS1
444819,2:73679704:G>C,NM_015120.4:c.6047G>C,NP_055935.4:p.Ser2018Thr,8/23,\N,Unknown significance,\N,missense_variant,20.3,\N,\N,ALMS1
444820,2:73679707:C>CT,NM_015120.4:c.6050_6051insT,NP_055935.4:p.Tyr2020LeufsTer17,8/23,\N,Unknown significance,\N,frameshift_variant,25,\N,\N,ALMS1
444821,2:73679713:C>T,NM_015120.4:c.6056C>T,NP_055935.4:p.Ser2021Leu,8/23,\N,Likely benign,\N,missense_variant,3.651,0.00012222,EVS_EA_AF,ALMS1
444822,2:73679719:T>C,NM_015120.4:c.6062T>C,NP_055935.4:p.Ile2023Thr,8/23,\N,Likely benign,\N,missense_variant,0.002,0.00001502,EXAC_NFE_AF,ALMS1
444823,2:73679720:A>G,NM_015120.4:c.6063A>G,NP_055935.4:p.Ile2023Met,8/23,\N,Unknown significance,\N,missense_variant,16.22,0.0000606061,EXAC_SAS_AF,ALMS1
444824,2:73679722:A>G,NM_015120.4:c.6065A>G,NP_055935.4:p.Glu2024Gly,8/23,\N,Unknown significance,\N,missense_variant,22.7,0.000270416,EVS_AA_AF,ALMS1
444825,2:73679725:A>C,NM_015120.4:c.6068A>C,NP_055935.4:p.Lys2025Thr,8/23,\N,Unknown significance,\N,missense_variant,22.5,0.001,1KG_SAS_AF,ALMS1
444826,2:73679725:A>G,NM_015120.4:c.6068A>G,NP_055935.4:p.Lys2025Arg,8/23,\N,Unknown significance,\N,missense_variant,16.4,\N,\N,ALMS1
444827,2:73679730:A>G,NM_015120.4:c.6073A>G,NP_055935.4:p.Lys2027Glu,8/23,\N,Unknown significance,\N,missense_variant,16.79,0.0014,1KG_AMR_AF,ALMS1
444828,2:73679731:A>G,NM_015120.4:c.6074A>G,NP_055935.4:p.Lys2027Arg,8/23,\N,Likely benign,\N,missense_variant,1.544,0.000122399,EVS_EA_AF,ALMS1
444829,2:73679736:T>C,NM_015120.4:c.6079T>C,NP_055935.4:p.Ser2029Pro,8/23,\N,Benign,\N,missense_variant,24.5,0.0106,1KG_AFR_AF,ALMS1
444830,2:73679738:A>G,NM_015120.4:c.6081A>G,NP_055935.4:p.Ser2029=,8/23,\N,Unknown significance,\N,synonymous_variant,7.279,0.0000300634,EXAC_NFE_AF,ALMS1
444831,2:73679739:A>G,NM_015120.4:c.6082A>G,NP_055935.4:p.Thr2030Ala,8/23,\N,Likely benign,\N,missense_variant,18.5,0.000116306,EXAC_EAS_AF,ALMS1
444832,2:73679739:A>T,NM_015120.4:c.6082A>T,NP_055935.4:p.Thr2030Ser,8/23,\N,Likely benign,\N,missense_variant,12.35,0.0000865951,EXAC_AMR_AF,ALMS1
444833,2:73679741:T>C,NM_015120.4:c.6084T>C,NP_055935.4:p.Thr2030=,8/23,\N,Unknown significance,\N,synonymous_variant,6.956,0.0000601287,EXAC_NFE_AF,ALMS1
444834,2:73679745:A>G,NM_015120.4:c.6088A>G,NP_055935.4:p.Ile2032Val,8/23,\N,Likely benign,\N,missense_variant,21.4,0.0000451074,EXAC_NFE_AF,ALMS1
444835,2:73679746:T>C,NM_015120.4:c.6089T>C,NP_055935.4:p.Ile2032Thr,8/23,\N,Likely benign,\N,missense_variant,12.26,0.000268817,EVS_AA_AF,ALMS1
444836,2:73679761:A>G,NM_015120.4:c.6104A>G,NP_055935.4:p.Gln2037Arg,8/23,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,ALMS1
444837,2:73679766:A>T,NM_015120.4:c.6109A>T,NP_055935.4:p.Thr2039Ser,8/23,\N,Likely benign,\N,missense_variant,14.28,0.000269107,EVS_AA_AF,ALMS1
444838,2:73679774:C>G,NM_015120.4:c.6117C>G,NP_055935.4:p.Ser2041=,8/23,\N,Unknown significance,\N,synonymous_variant,7.146,0.0000150789,EXAC_NFE_AF,ALMS1
444839,2:73679775:C>G,NM_015120.4:c.6118C>G,NP_055935.4:p.Gln2042Glu,8/23,\N,Likely benign,\N,missense_variant,0.159,0.0000150793,EXAC_NFE_AF,ALMS1
444840,2:73679776:A>C,NM_015120.4:c.6119A>C,NP_055935.4:p.Gln2042Pro,8/23,\N,Likely benign,\N,missense_variant,0.016,0.00112108,EXAC_OTH_AF,ALMS1
444841,2:73679779:C>T,NM_015120.4:c.6122C>T,NP_055935.4:p.Thr2043Ile,8/23,\N,Unknown significance,\N,missense_variant,21.9,0.000181884,EXAC_SAS_AF,ALMS1
444842,2:73679791:G>C,NM_015120.4:c.6134G>C,NP_055935.4:p.Ser2047Thr,8/23,\N,Likely benign,\N,missense_variant,11.08,\N,\N,ALMS1
444843,2:73679792:T>G,NM_015120.4:c.6135T>G,NP_055935.4:p.Ser2047Arg,8/23,\N,Likely benign,\N,missense_variant,20.8,0.000104734,EXAC_AFR_AF,ALMS1
444844,2:73679794:C>T,NM_015120.4:c.6137C>T,NP_055935.4:p.Ser2048Phe,8/23,\N,Likely benign,\N,missense_variant,15.91,0.0000868056,EXAC_AMR_AF,ALMS1
444845,2:73679797:A>C,NM_015120.4:c.6140A>C,NP_055935.4:p.Tyr2049Ser,8/23,\N,Likely benign,\N,missense_variant,4.857,0.000105086,EXAC_AFR_AF,ALMS1
444846,2:73679797:A>G,NM_015120.4:c.6140A>G,NP_055935.4:p.Tyr2049Cys,8/23,\N,Likely benign,\N,missense_variant,4.249,0.000272331,EVS_AA_AF,ALMS1
444847,2:73679799:T>A,NM_015120.4:c.6142T>A,NP_055935.4:p.Ser2050Thr,8/23,\N,Unknown significance,\N,missense_variant,23.3,0.00186176,EXAC_EAS_AF,ALMS1
444848,2:73679817:A>AAT,NM_015120.4:c.6163_6164dup,NP_055935.4:p.Leu2058PhefsTer17,8/23,\N,Unknown significance,\N,frameshift_variant,22.1,\N,\N,ALMS1
444849,2:73679818:A>G,NM_015120.4:c.6161A>G,NP_055935.4:p.Asn2056Ser,8/23,\N,Likely benign,\N,missense_variant,0.001,0.000116632,EXAC_EAS_AF,ALMS1
444850,2:73679818:A>T,NM_015120.4:c.6161A>T,NP_055935.4:p.Asn2056Ile,8/23,\N,Likely benign,\N,missense_variant,0.556,0.000121256,EXAC_SAS_AF,ALMS1
444851,2:73679820:A>G,NM_015120.4:c.6163A>G,NP_055935.4:p.Ile2057Val,8/23,\N,Likely benign,\N,missense_variant,0.011,0.00017343,EXAC_AMR_AF,ALMS1
444852,2:73679821:T>C,NM_015120.4:c.6164T>C,NP_055935.4:p.Ile2057Thr,8/23,\N,Unknown significance,\N,missense_variant,21.9,0.001,1KG_SAS_AF,ALMS1
444853,2:73679822:T>G,NM_015120.4:c.6165T>G,NP_055935.4:p.Ile2057Met,8/23,\N,Unknown significance,\N,missense_variant,23,0.0000867152,EXAC_AMR_AF,ALMS1
444854,2:73679824:T>C,NM_015120.4:c.6167T>C,NP_055935.4:p.Leu2058Ser,8/23,\N,Likely benign,\N,missense_variant,15.56,0.0000606281,EXAC_SAS_AF,ALMS1
444855,2:73679831:A>G,NM_015120.4:c.6174A>G,NP_055935.4:p.Gln2060=,8/23,\N,Unknown significance,\N,synonymous_variant,0.162,0.0000153233,EXAC_NFE_AF,ALMS1
444856,2:73679837:G>C,NM_015120.4:c.6180G>C,NP_055935.4:p.Gln2062His,8/23,\N,Likely benign,\N,missense_variant,13.16,0.000752411,EXAC_NFE_AF,ALMS1
444857,2:73679840:G>A,NM_015120.4:c.6183G>A,NP_055935.4:p.Leu2063=,8/23,\N,Unknown significance,\N,synonymous_variant,6.461,0.0000153695,EXAC_NFE_AF,ALMS1
444858,2:73679844:G>A,NM_015120.4:c.6187G>A,NP_055935.4:p.Asp2065Asn,8/23,\N,Unknown significance,\N,missense_variant,23.9,0.0014,1KG_AMR_AF,ALMS1
444859,2:73679857:G>A,NM_015120.4:c.6200G>A,NP_055935.4:p.Ser2069Asn,8/23,\N,Likely benign,\N,missense_variant,20.1,0.0000154116,EXAC_NFE_AF,ALMS1
444860,2:73679857:G>C,NM_015120.4:c.6200G>C,NP_055935.4:p.Ser2069Thr,8/23,\N,Likely benign,\N,missense_variant,16.22,0.000109577,EXAC_AFR_AF,ALMS1
444861,2:73679866:T>C,NM_015120.4:c.6209T>C,NP_055935.4:p.Ile2072Thr,8/23,\N,Benign,\N,missense_variant,0.002,0.1772,1KG_AMR_AF,ALMS1
444862,2:73679870:A>G,NM_015120.4:c.6213A>G,NP_055935.4:p.Leu2073=,8/23,\N,Unknown significance,\N,synonymous_variant,0.533,0.0000154212,EXAC_NFE_AF,ALMS1
444863,2:73679871:A>G,NM_015120.4:c.6214A>G,NP_055935.4:p.Lys2074Glu,8/23,\N,Unknown significance,\N,missense_variant,23.7,0.001,1KG_EAS_AF,ALMS1
444864,2:73679878:C>T,NM_015120.4:c.6221C>T,NP_055935.4:p.Ser2076Leu,8/23,\N,Likely benign,\N,missense_variant,24.3,0.0000154307,EXAC_NFE_AF,ALMS1
444865,2:73679883:G>A,NM_015120.4:c.6226G>A,NP_055935.4:p.Val2078Ile,8/23,\N,Likely benign,\N,missense_variant,13.28,\N,\N,ALMS1
444866,2:73679885:C>A,NM_015120.4:c.6228C>A,NP_055935.4:p.Val2078=,8/23,\N,Unknown significance,\N,synonymous_variant,10.77,0.000110035,EXAC_AFR_AF,ALMS1
444867,2:73679889:G>A,NM_015120.4:c.6232G>A,NP_055935.4:p.Glu2080Lys,8/23,\N,Likely benign,\N,missense_variant,20.1,0.0000154335,EXAC_NFE_AF,ALMS1
444868,2:73679894:A>C,NM_015120.4:c.6237A>C,NP_055935.4:p.Leu2081=,8/23,\N,Unknown significance,\N,synonymous_variant,0.01,0.0000606281,EXAC_SAS_AF,ALMS1
444869,2:73679904:A>G,NM_015120.4:c.6247A>G,NP_055935.4:p.Asn2085Asp,8/23,\N,Unknown significance,\N,missense_variant,13.6,0.0000308747,EXAC_NFE_AF,ALMS1
444870,2:73679905:A>G,NM_015120.4:c.6248A>G,NP_055935.4:p.Asn2085Ser,8/23,\N,Unknown significance,\N,missense_variant,14.32,0.000015435,EXAC_NFE_AF,ALMS1
444871,2:73679917:C>G,NM_015120.4:c.6260C>G,NP_055935.4:p.Pro2089Arg,8/23,\N,Unknown significance,\N,missense_variant,22.5,0.0000606502,EXAC_SAS_AF,ALMS1
444872,2:73679929:C>G,NM_015120.4:c.6272C>G,NP_055935.4:p.Ser2093Cys,8/23,\N,Unknown significance,\N,missense_variant,23.6,0.0000154354,EXAC_NFE_AF,ALMS1
444873,2:73679944:A>G,NM_015120.4:c.6287A>G,NP_055935.4:p.His2098Arg,8/23,\N,Unknown significance,\N,missense_variant,23,0.0000606575,EXAC_SAS_AF,ALMS1
444874,2:73679946:A>G,NM_015120.4:c.6289A>G,NP_055935.4:p.Arg2099Gly,8/23,\N,Unknown significance,\N,missense_variant,20.7,0.000087535,EXAC_AMR_AF,ALMS1
444875,2:73679953:A>T,NM_015120.4:c.6296A>T,NP_055935.4:p.Lys2101Ile,8/23,\N,Unknown significance,\N,missense_variant,23.6,0.000244978,EVS_EA_AF,ALMS1
444876,2:73679956:C>A,NM_015120.4:c.6299C>A,NP_055935.4:p.Ser2102Ter,8/23,\N,Unknown significance,\N,stop_gained,35,0.00021777,EXAC_AFR_AF,ALMS1
444877,2:73679956:C>G,NM_015120.4:c.6299C>G,NP_055935.4:p.Ser2102Trp,8/23,\N,Unknown significance,\N,missense_variant,24.4,0.000537866,EXAC_NFE_AF,ALMS1
444878,2:73679956:C>T,NM_015120.4:c.6299C>T,NP_055935.4:p.Ser2102Leu,8/23,\N,Benign,\N,missense_variant,22.8,0.0497,1KG_EUR_AF,ALMS1
444879,2:73679957:G>A,NM_015120.4:c.6300G>A,NP_055935.4:p.Ser2102=,8/23,\N,Unknown significance,\N,synonymous_variant,6.156,0.001,1KG_EAS_AF,ALMS1
444880,2:73679959:A>G,NM_015120.4:c.6302A>G,NP_055935.4:p.Asn2103Ser,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000153412,EXAC_NFE_AF,ALMS1
444881,2:73679967:A>C,NM_015120.4:c.6310A>C,NP_055935.4:p.Ser2106Arg,8/23,\N,Unknown significance,\N,missense_variant,1.256,0.001,1KG_SAS_AF,ALMS1
444882,2:73679971:C>T,NM_015120.4:c.6314C>T,NP_055935.4:p.Pro2107Leu,8/23,\N,Likely benign,\N,missense_variant,11.42,0.0000153083,EXAC_NFE_AF,ALMS1
444883,2:73679974:A>G,NM_015120.4:c.6317A>G,NP_055935.4:p.Gln2108Arg,8/23,\N,Unknown significance,\N,missense_variant,18.15,\N,\N,ALMS1
444884,2:73679983:C>T,NM_015120.4:c.6326C>T,NP_055935.4:p.Pro2111Leu,8/23,\N,Unknown significance,\N,missense_variant,25.4,0.000174795,EXAC_AMR_AF,ALMS1
444885,2:73679990:T>A,NM_015120.4:c.6333T>A,NP_055935.4:p.Ser2113Arg,8/23,\N,Benign,\N,missense_variant,0.005,0.8775,1KG_AFR_AF,ALMS1
444886,2:73679996:A>C,NM_015120.4:c.6339A>C,NP_055935.4:p.Val2115=,8/23,\N,Unknown significance,\N,synonymous_variant,0.568,0.0000606502,EXAC_SAS_AF,ALMS1
444887,2:73679998:C>T,NM_015120.4:c.6341C>T,NP_055935.4:p.Thr2116Ile,8/23,\N,Likely benign,\N,missense_variant,18.5,0.000106167,EXAC_NFE_AF,ALMS1
444888,2:73680003:G>A,NM_015120.4:c.6346G>A,NP_055935.4:p.Asp2118Asn,8/23,\N,Likely benign,\N,missense_variant,11.25,0.0000151635,EXAC_NFE_AF,ALMS1
444889,2:73680008:G>C,NM_015120.4:c.6351G>C,NP_055935.4:p.Val2119=,8/23,\N,Unknown significance,\N,synonymous_variant,0.217,0.0000151607,EXAC_NFE_AF,ALMS1
444890,2:73680013:A>G,NM_015120.4:c.6356A>G,NP_055935.4:p.Lys2121Arg,8/23,\N,Unknown significance,\N,missense_variant,22.6,0.0000151442,EXAC_NFE_AF,ALMS1
444891,2:73680015:G>C,NM_015120.4:c.6358G>C,NP_055935.4:p.Val2122Leu,8/23,\N,Likely benign,\N,missense_variant,2.519,0.000104297,EXAC_AFR_AF,ALMS1
444892,2:73680022:C>A,NM_015120.4:c.6365C>A,NP_055935.4:p.Thr2124Lys,8/23,\N,Unknown significance,\N,missense_variant,23.2,0.0000151423,EXAC_NFE_AF,ALMS1
444893,2:73680026:T>C,NM_015120.4:c.6369T>C,NP_055935.4:p.Ile2125=,8/23,\N,Unknown significance,\N,synonymous_variant,0.628,0.0000302792,EXAC_NFE_AF,ALMS1
444894,2:73680033:C>T,NM_015120.4:c.6376C>T,NP_055935.4:p.Pro2128Ser,8/23,\N,Likely benign,\N,missense_variant,20.5,0.0000151304,EXAC_NFE_AF,ALMS1
444895,2:73680053:A>T,NM_015120.4:c.6396A>T,NP_055935.4:p.Val2134=,8/23,\N,Unknown significance,\N,synonymous_variant,0.047,0.000539374,EVS_AA_AF,ALMS1
444896,2:73680069:C>T,NM_015120.4:c.6412C>T,NP_055935.4:p.Pro2140Ser,8/23,\N,Likely benign,\N,missense_variant,0.028,0.0000150871,EXAC_NFE_AF,ALMS1
444897,2:73680080:T>C,NM_015120.4:c.6423T>C,NP_055935.4:p.Phe2143=,8/23,\N,Unknown significance,\N,synonymous_variant,0.01,0.000015082,EXAC_NFE_AF,ALMS1
444898,2:73680087:C>T,NM_015120.4:c.6430C>T,NP_055935.4:p.Arg2146Ter,8/23,\N,Pathogenic,Alstrom syndrome,stop_gained,34,0.0000150784,EXAC_NFE_AF,ALMS1
444899,2:73680088:G>A,NM_015120.4:c.6431G>A,NP_055935.4:p.Arg2146Gln,8/23,\N,Likely benign,\N,missense_variant,9.385,\N,\N,ALMS1
444900,2:73680095:A>G,NM_015120.4:c.6438A>G,NP_055935.4:p.Lys2148=,8/23,\N,Unknown significance,\N,synonymous_variant,0.545,0.000304173,EXAC_SAS_AF,ALMS1
444901,2:73680096:C>A,NM_015120.4:c.6439C>A,NP_055935.4:p.Pro2149Thr,8/23,\N,Likely benign,\N,missense_variant,12.98,0.0008,1KG_AFR_AF,ALMS1
444902,2:73680101:T>C,NM_015120.4:c.6444T>C,NP_055935.4:p.Asp2150=,8/23,\N,Unknown significance,\N,synonymous_variant,0.132,0.0000608421,EXAC_SAS_AF,ALMS1
444903,2:73680102:A>G,NM_015120.4:c.6445A>G,NP_055935.4:p.Ile2151Val,8/23,\N,Likely benign,\N,missense_variant,0.233,0.000121669,EXAC_SAS_AF,ALMS1
444904,2:73680108:T>C,NM_015120.4:c.6451T>C,NP_055935.4:p.Tyr2153His,8/23,\N,Unknown significance,\N,missense_variant,7.964,0.0000150616,EXAC_NFE_AF,ALMS1
444905,2:73680112:A>G,NM_015120.4:c.6455A>G,NP_055935.4:p.Gln2154Arg,8/23,\N,Likely benign,\N,missense_variant,0.031,\N,\N,ALMS1
444906,2:73680118:A>G,NM_015120.4:c.6461A>G,NP_055935.4:p.Asp2156Gly,8/23,\N,Benign,\N,missense_variant,13.12,0.0189,1KG_AFR_AF,ALMS1
444907,2:73680126:G>C,NM_015120.4:c.6469G>C,NP_055935.4:p.Asp2159His,8/23,\N,Unknown significance,\N,missense_variant,24.6,0.0008,1KG_AFR_AF,ALMS1
444908,2:73680131:A>T,NM_015120.4:c.6474A>T,NP_055935.4:p.Arg2160Ser,8/23,\N,Likely benign,\N,missense_variant,21.8,0.0000150494,EXAC_NFE_AF,ALMS1
444909,2:73680133:A>G,NM_015120.4:c.6476A>G,NP_055935.4:p.His2161Arg,8/23,\N,Likely benign,\N,missense_variant,0.538,0.0000870777,EXAC_AMR_AF,ALMS1
444910,2:73680137:A>G,NM_015120.4:c.6480A>G,NP_055935.4:p.Leu2162=,8/23,\N,Unknown significance,\N,synonymous_variant,3.501,0.0000300978,EXAC_NFE_AF,ALMS1
444911,2:73680148:C>T,NM_015120.4:c.6491C>T,NP_055935.4:p.Ala2166Val,8/23,\N,Likely benign,\N,missense_variant,10.61,\N,\N,ALMS1
444912,2:73680149:T>C,NM_015120.4:c.6492T>C,NP_055935.4:p.Ala2166=,8/23,\N,Unknown significance,\N,synonymous_variant,0.599,0.0015,1KG_AFR_AF,ALMS1
444913,2:73680152:A>G,NM_015120.4:c.6495A>G,NP_055935.4:p.Leu2167=,8/23,\N,Unknown significance,\N,synonymous_variant,2.218,0.0000150462,EXAC_NFE_AF,ALMS1
444914,2:73680160:C>T,NM_015120.4:c.6503C>T,NP_055935.4:p.Ser2170Leu,8/23,\N,Unknown significance,\N,missense_variant,25.2,0.001,1KG_SAS_AF,ALMS1
444915,2:73680162:A>G,NM_015120.4:c.6505A>G,NP_055935.4:p.Ser2171Gly,8/23,\N,Likely benign,\N,missense_variant,1.72,0.0000300842,EXAC_NFE_AF,ALMS1
444916,2:73680166:C>G,NM_015120.4:c.6509C>G,NP_055935.4:p.Ala2172Gly,8/23,\N,Likely benign,\N,missense_variant,0.035,0.000015043,EXAC_NFE_AF,ALMS1
444917,2:73680178:C>T,NM_015120.4:c.6521C>T,NP_055935.4:p.Ala2176Val,8/23,\N,Likely benign,\N,missense_variant,21.9,0.0014,1KG_AMR_AF,ALMS1
444918,2:73680179:T>A,NM_015120.4:c.6522T>A,NP_055935.4:p.Ala2176=,8/23,\N,Unknown significance,\N,synonymous_variant,12.44,0.000242895,EXAC_SAS_AF,ALMS1
444919,2:73680183:C>G,NM_015120.4:c.6526C>G,NP_055935.4:p.Gln2178Glu,8/23,\N,Unknown significance,\N,missense_variant,24.3,0.0000150362,EXAC_NFE_AF,ALMS1
444920,2:73680191:C>T,NM_015120.4:c.6534C>T,NP_055935.4:p.Thr2180=,8/23,\N,Unknown significance,\N,synonymous_variant,12.3,0.000365854,EVS_EA_AF,ALMS1
444921,2:73680192:G>A,NM_015120.4:c.6535G>A,NP_055935.4:p.Gly2181Arg,8/23,\N,Likely benign,\N,missense_variant,1.298,0.001,1KG_EAS_AF,ALMS1
444922,2:73680205:T>C,NM_015120.4:c.6548T>C,NP_055935.4:p.Val2185Ala,8/23,\N,Likely benign,\N,missense_variant,4.862,0.0000606575,EXAC_SAS_AF,ALMS1
444923,2:73680207:C>T,NM_015120.4:c.6550C>T,NP_055935.4:p.Pro2186Ser,8/23,\N,Benign,\N,missense_variant,0.299,0.0386,1KG_AFR_AF,ALMS1
444924,2:73680214:G>A,NM_015120.4:c.6557G>A,NP_055935.4:p.Gly2188Asp,8/23,\N,Likely benign,\N,missense_variant,12.33,0.0001213,EXAC_SAS_AF,ALMS1
444925,2:73680217:C>G,NM_015120.4:c.6560C>G,NP_055935.4:p.Thr2189Ser,8/23,\N,Likely benign,\N,missense_variant,14.04,0.0000450708,EXAC_NFE_AF,ALMS1
444926,2:73680221:C>T,NM_015120.4:c.6564C>T,NP_055935.4:p.Tyr2190=,8/23,\N,Unknown significance,\N,synonymous_variant,1.759,0.000268962,EVS_AA_AF,ALMS1
444927,2:73680226:A>G,NM_015120.4:c.6569A>G,NP_055935.4:p.His2192Arg,8/23,\N,Likely benign,\N,missense_variant,2.848,0.001,1KG_SAS_AF,ALMS1
444928,2:73680229:G>A,NM_015120.4:c.6572G>A,NP_055935.4:p.Gly2193Asp,8/23,\N,Likely benign,\N,missense_variant,6.456,0.001,1KG_EAS_AF,ALMS1
444929,2:73680234:A>G,NM_015120.4:c.6577A>G,NP_055935.4:p.Asn2195Asp,8/23,\N,Likely benign,\N,missense_variant,22.7,0.0000150245,EXAC_NFE_AF,ALMS1
444930,2:73680254:A>G,NM_015120.4:c.6597A>G,NP_055935.4:p.Glu2201=,8/23,\N,Unknown significance,\N,synonymous_variant,2.099,0.001,1KG_SAS_AF,ALMS1
444931,2:73680256:A>G,NM_015120.4:c.6599A>G,NP_055935.4:p.His2202Arg,8/23,\N,Likely benign,\N,missense_variant,13.1,0.0000606134,EXAC_SAS_AF,ALMS1
444932,2:73680258:G>A,NM_015120.4:c.6601G>A,NP_055935.4:p.Val2203Ile,8/23,\N,Unknown significance,\N,missense_variant,23,0.000267666,EVS_AA_AF,ALMS1
444933,2:73680266:G>C,NM_015120.4:c.6609G>C,NP_055935.4:p.Arg2205Ser,8/23,\N,Unknown significance,\N,missense_variant,22.6,0.0000300544,EXAC_NFE_AF,ALMS1
444934,2:73680269:A>T,NM_015120.4:c.6612A>T,NP_055935.4:p.Leu2206=,8/23,\N,Unknown significance,\N,synonymous_variant,0.003,0.000804721,EVS_AA_AF,ALMS1
444935,2:73680270:A>G,NM_015120.4:c.6613A>G,NP_055935.4:p.Ile2207Val,8/23,\N,Likely benign,\N,missense_variant,0.017,0.0000150286,EXAC_NFE_AF,ALMS1
444936,2:73680274:A>G,NM_015120.4:c.6617A>G,NP_055935.4:p.Asp2208Gly,8/23,\N,Unknown significance,\N,missense_variant,23.3,0.0000150299,EXAC_NFE_AF,ALMS1
444937,2:73680282:A>G,NM_015120.4:c.6625A>G,NP_055935.4:p.Asn2211Asp,8/23,\N,Likely benign,\N,missense_variant,0.081,0.000121242,EXAC_SAS_AF,ALMS1
444938,2:73680287:T>G,NM_015120.4:c.6630T>G,NP_055935.4:p.Ser2212=,8/23,\N,Unknown significance,\N,synonymous_variant,2.104,0.000102775,EXAC_AFR_AF,ALMS1
444939,2:73680289:C>T,NM_015120.4:c.6632C>T,NP_055935.4:p.Ser2213Phe,8/23,\N,Unknown significance,\N,missense_variant,25.1,0.000121242,EXAC_SAS_AF,ALMS1
444940,2:73680291:G>T,NM_015120.4:c.6634G>T,NP_055935.4:p.Asp2214Tyr,8/23,\N,Unknown significance,\N,missense_variant,23.6,0.000308261,EXAC_AFR_AF,ALMS1
444941,2:73680292:A>G,NM_015120.4:c.6635A>G,NP_055935.4:p.Asp2214Gly,8/23,\N,Likely benign,\N,missense_variant,8.448,0.000116523,EXAC_EAS_AF,ALMS1
444942,2:73680293:C>G,NM_015120.4:c.6636C>G,NP_055935.4:p.Asp2214Glu,8/23,\N,Likely benign,\N,missense_variant,8.833,0.0000869716,EXAC_AMR_AF,ALMS1
444943,2:73680299:T>G,NM_015120.4:c.6642T>G,NP_055935.4:p.Ser2216Arg,8/23,\N,Likely benign,\N,missense_variant,22.1,\N,\N,ALMS1
444944,2:73680303:A>T,NM_015120.4:c.6646A>T,NP_055935.4:p.Ser2218Cys,8/23,\N,Unknown significance,\N,missense_variant,14.88,0.0000150376,EXAC_NFE_AF,ALMS1
444945,2:73680305:C>A,NM_015120.4:c.6648C>A,NP_055935.4:p.Ser2218Arg,8/23,\N,Likely benign,\N,missense_variant,10.21,0.0000870019,EXAC_AMR_AF,ALMS1
444946,2:73680306:T>C,NM_015120.4:c.6649T>C,NP_055935.4:p.Ser2219Pro,8/23,\N,Likely benign,\N,missense_variant,1.978,0.0000150399,EXAC_NFE_AF,ALMS1
444947,2:73680315:G>T,NM_015120.4:c.6658G>T,NP_055935.4:p.Val2222Leu,8/23,\N,Likely benign,\N,missense_variant,11.53,0.000181884,EXAC_SAS_AF,ALMS1
444948,2:73680324:A>C,NM_015120.4:c.6667A>C,NP_055935.4:p.Asn2225His,8/23,\N,Likely benign,\N,missense_variant,16.56,0.0000150471,EXAC_NFE_AF,ALMS1
444949,2:73680330:C>T,NM_015120.4:c.6673C>T,NP_055935.4:p.Gln2227Ter,8/23,\N,Unknown significance,\N,stop_gained,37,0.000103348,EXAC_AFR_AF,ALMS1
444950,2:73680345:G>C,NM_015120.4:c.6688G>C,NP_055935.4:p.Val2232Leu,8/23,\N,Unknown significance,\N,missense_variant,20.9,0.000015063,EXAC_NFE_AF,ALMS1
444951,2:73680351:A>G,NM_015120.4:c.6694A>G,NP_055935.4:p.Ile2234Val,8/23,\N,Unknown significance,\N,missense_variant,23,0.0000870322,EXAC_AMR_AF,ALMS1
444952,2:73680352:T>A,NM_015120.4:c.6695T>A,NP_055935.4:p.Ile2234Lys,8/23,\N,Unknown significance,\N,missense_variant,23.9,0.0000150648,EXAC_NFE_AF,ALMS1
444953,2:73680359:AC>A,NM_015120.4:c.6704del,NP_055935.4:p.Pro2237GlnfsTer31,8/23,\N,Unknown significance,\N,frameshift_variant,32,\N,\N,ALMS1
444954,2:73680360:C>A,NM_015120.4:c.6703C>A,NP_055935.4:p.Pro2237Thr,8/23,\N,Likely benign,\N,missense_variant,15.73,0.000545256,EVS_AA_AF,ALMS1
444955,2:73680361:C>T,NM_015120.4:c.6704C>T,NP_055935.4:p.Pro2237Leu,8/23,\N,Likely benign,\N,missense_variant,25,0.00012219,EVS_EA_AF,ALMS1
444956,2:73680363:G>A,NM_015120.4:c.6706G>A,NP_055935.4:p.Glu2238Lys,8/23,\N,Unknown significance,\N,missense_variant,27.9,0.000103885,EXAC_AFR_AF,ALMS1
444957,2:73680383:T>C,NM_015120.4:c.6726T>C,NP_055935.4:p.Asp2244=,8/23,\N,Unknown significance,\N,synonymous_variant,0.489,0.000233155,EXAC_EAS_AF,ALMS1
444958,2:73680403:A>T,NM_015120.4:c.6746A>T,NP_055935.4:p.Gln2251Leu,8/23,\N,Likely benign,\N,missense_variant,22.7,0.001,1KG_EAS_AF,ALMS1
444959,2:73680406:A>G,NM_015120.4:c.6749A>G,NP_055935.4:p.Asp2252Gly,8/23,\N,Benign,\N,missense_variant,13.01,0.0170478,EXAC_AFR_AF,ALMS1
444960,2:73680416:T>A,NM_015120.4:c.6759T>A,NP_055935.4:p.Asn2255Lys,8/23,\N,Unknown significance,\N,missense_variant,23,\N,\N,ALMS1
444961,2:73680429:C>G,NM_015120.4:c.6772C>G,NP_055935.4:p.Leu2260Val,8/23,\N,Unknown significance,\N,missense_variant,25.6,0.0000150643,EXAC_NFE_AF,ALMS1
444962,2:73680430:T>C,NM_015120.4:c.6773T>C,NP_055935.4:p.Leu2260Pro,8/23,\N,Unknown significance,\N,missense_variant,25.5,0.000116686,EXAC_EAS_AF,ALMS1
444963,2:73680441:C>T,NM_015120.4:c.6784C>T,NP_055935.4:p.Arg2264Trp,8/23,\N,Unknown significance,\N,missense_variant,34,0.000087108,EXAC_AMR_AF,ALMS1
444964,2:73680442:G>A,NM_015120.4:c.6785G>A,NP_055935.4:p.Arg2264Gln,8/23,\N,Likely benign,\N,missense_variant,10.93,0.0000606281,EXAC_SAS_AF,ALMS1
444965,2:73680444:A>G,NM_015120.4:c.6787A>G,NP_055935.4:p.Thr2265Ala,8/23,\N,Unknown significance,\N,missense_variant,17.23,0.0000870928,EXAC_AMR_AF,ALMS1
444966,2:73680447:CTT>C,NM_015120.4:c.6793_6794del,NP_055935.4:p.Leu2267AspfsTer24,8/23,\N,Unknown significance,\N,frameshift_variant,34,0.0000150494,EXAC_NFE_AF,ALMS1
444967,2:73680450:T>G,NM_015120.4:c.6793T>G,NP_055935.4:p.Leu2267Val,8/23,\N,Unknown significance,\N,missense_variant,24.2,0.000015048,EXAC_NFE_AF,ALMS1
444968,2:73680451:T>A,NM_015120.4:c.6794T>A,NP_055935.4:p.Leu2267Ter,8/23,\N,Unknown significance,\N,stop_gained,40,0.0000150462,EXAC_NFE_AF,ALMS1
444969,2:73680453:A>G,NM_015120.4:c.6796A>G,NP_055935.4:p.Met2268Val,8/23,\N,Unknown significance,\N,missense_variant,24.3,0.001,1KG_EAS_AF,ALMS1
444970,2:73680453:A>T,NM_015120.4:c.6796A>T,NP_055935.4:p.Met2268Leu,8/23,\N,Unknown significance,\N,missense_variant,25.4,0.0000606281,EXAC_SAS_AF,ALMS1
444971,2:73680466:A>G,NM_015120.4:c.6809A>G,NP_055935.4:p.Asn2272Ser,8/23,\N,Unknown significance,\N,missense_variant,24.7,0.000810811,EVS_AA_AF,ALMS1
444972,2:73680470:G>A,NM_015120.4:c.6813G>A,NP_055935.4:p.Met2273Ile,8/23,\N,Likely benign,\N,missense_variant,1.32,0.000116713,EXAC_EAS_AF,ALMS1
444973,2:73680481:G>A,NM_015120.4:c.6824G>A,NP_055935.4:p.Arg2277Gln,8/23,\N,Unknown significance,\N,missense_variant,33,0.00183118,EXAC_AMR_AF,ALMS1
444974,2:73680485:C>A,NM_015120.4:c.6828C>A,NP_055935.4:p.Cys2278Ter,8/23,\N,Unknown significance,\N,stop_gained,36,0.0000871536,EXAC_AMR_AF,ALMS1
444975,2:73680487:A>G,NM_015120.4:c.6830A>G,NP_055935.4:p.Asn2279Ser,8/23,\N,Unknown significance,\N,missense_variant,19.76,0.000410931,EXAC_AFR_AF,ALMS1
444976,2:73680494:T>C,NM_015120.4:c.6837T>C,NP_055935.4:p.Pro2281=,8/23,\N,Unknown significance,\N,synonymous_variant,4.049,\N,\N,ALMS1
444977,2:73680494:T>G,NM_015120.4:c.6837T>G,NP_055935.4:p.Pro2281=,8/23,\N,Unknown significance,\N,synonymous_variant,7.762,0.0000150394,EXAC_NFE_AF,ALMS1
444978,2:73680496:C>G,NM_015120.4:c.6839C>G,NP_055935.4:p.Ala2282Gly,8/23,\N,Unknown significance,\N,missense_variant,14.35,0.00011655,EXAC_EAS_AF,ALMS1
444979,2:73680498:C>T,NM_015120.4:c.6841C>T,NP_055935.4:p.Pro2283Ser,8/23,\N,Likely benign,\N,missense_variant,26.1,0.000015039,EXAC_NFE_AF,ALMS1
444980,2:73680504:G>A,NM_015120.4:c.6847G>A,NP_055935.4:p.Ala2285Thr,8/23,\N,Unknown significance,\N,missense_variant,23,0.0000150394,EXAC_NFE_AF,ALMS1
444981,2:73680507:C>T,NM_015120.4:c.6850C>T,NP_055935.4:p.Arg2286Cys,8/23,\N,Likely benign,\N,missense_variant,26.5,0.000245158,EVS_EA_AF,ALMS1
444982,2:73680508:G>A,NM_015120.4:c.6851G>A,NP_055935.4:p.Arg2286His,8/23,\N,Likely benign,\N,missense_variant,24.9,0.0000150358,EXAC_NFE_AF,ALMS1
444983,2:73680508:G>C,NM_015120.4:c.6851G>C,NP_055935.4:p.Arg2286Pro,8/23,\N,Benign,\N,missense_variant,17.18,0.8782,1KG_AFR_AF,ALMS1
444984,2:73680519:A>T,NM_015120.4:c.6862A>T,NP_055935.4:p.Ile2290Phe,8/23,\N,Unknown significance,\N,missense_variant,23.7,0.001,1KG_EAS_AF,ALMS1
444985,2:73680528:A>G,NM_015120.4:c.6871A>G,NP_055935.4:p.Ile2293Val,8/23,\N,Likely benign,\N,missense_variant,0.076,\N,\N,ALMS1
444986,2:73680540:C>G,NM_015120.4:c.6883C>G,NP_055935.4:p.Gln2297Glu,8/23,\N,Unknown significance,\N,missense_variant,24.1,0.0000150182,EXAC_NFE_AF,ALMS1
444987,2:73680543:T>A,NM_015120.4:c.6886T>A,NP_055935.4:p.Ser2298Thr,8/23,\N,Unknown significance,\N,missense_variant,24.4,0.0000150168,EXAC_NFE_AF,ALMS1
444988,2:73680544:C>CT,NM_015120.4:c.6888dup,NP_055935.4:p.Lys2299Ter,8/23,\N,Unknown significance,\N,frameshift_variant,35,0.00010227,EXAC_AFR_AF,ALMS1
444989,2:73680548:G>A,NM_015120.4:c.6891G>A,NP_055935.4:p.Lys2299=,8/23,\N,Unknown significance,\N,synonymous_variant,11.95,0.0000300345,EXAC_NFE_AF,ALMS1
444990,2:73680556:T>C,NM_015120.4:c.6899T>C,NP_055935.4:p.Val2302Ala,8/23,\N,Unknown significance,\N,missense_variant,25.1,0.000116387,EXAC_EAS_AF,ALMS1
444991,2:73680570:C>T,NM_015120.4:c.6913C>T,NP_055935.4:p.Pro2307Ser,8/23,\N,Unknown significance,\N,missense_variant,23.4,0.000349081,EXAC_EAS_AF,ALMS1
444992,2:73680577:C>T,NM_015120.4:c.6920C>T,NP_055935.4:p.Ser2309Phe,8/23,\N,Likely benign,\N,missense_variant,18.25,0.0000150173,EXAC_NFE_AF,ALMS1
444993,2:73680580:C>T,NM_015120.4:c.6923C>T,NP_055935.4:p.Thr2310Met,8/23,\N,Unknown significance,\N,missense_variant,23.5,0.000174155,EXAC_AMR_AF,ALMS1
444994,2:73680581:G>A,NM_015120.4:c.6924G>A,NP_055935.4:p.Thr2310=,8/23,\N,Unknown significance,\N,synonymous_variant,3.759,0.0000150186,EXAC_NFE_AF,ALMS1
444995,2:73680585:G>A,NM_015120.4:c.6928G>A,NP_055935.4:p.Val2312Ile,8/23,\N,Likely benign,\N,missense_variant,0.002,0.0000150159,EXAC_NFE_AF,ALMS1
444996,2:73680587:A>G,NM_015120.4:c.6930A>G,NP_055935.4:p.Val2312=,8/23,\N,Unknown significance,\N,synonymous_variant,0.245,0.0000300282,EXAC_NFE_AF,ALMS1
444997,2:73680591:A>C,NM_015120.4:c.6934A>C,NP_055935.4:p.Asn2314His,8/23,\N,Likely benign,\N,missense_variant,2.204,0.0000150146,EXAC_NFE_AF,ALMS1
444998,2:73680591:A>G,NM_015120.4:c.6934A>G,NP_055935.4:p.Asn2314Asp,8/23,\N,Likely benign,\N,missense_variant,0.114,0.0000150146,EXAC_NFE_AF,ALMS1
444999,2:73680602:G>A,NM_015120.4:c.6945G>A,NP_055935.4:p.Leu2317=,8/23,\N,Unknown significance,\N,synonymous_variant,0.482,0.0000150155,EXAC_NFE_AF,ALMS1
445000,2:73680604:T>C,NM_015120.4:c.6947T>C,NP_055935.4:p.Leu2318Pro,8/23,\N,Likely benign,\N,missense_variant,0.137,0.00102354,EXAC_AFR_AF,ALMS1
445001,2:73680611:A>G,NM_015120.4:c.6954A>G,NP_055935.4:p.Arg2320=,8/23,\N,Unknown significance,\N,synonymous_variant,0.122,0.00018184,EXAC_SAS_AF,ALMS1
445002,2:73680614:G>A,NM_015120.4:c.6957G>A,NP_055935.4:p.Gln2321=,8/23,\N,Unknown significance,\N,synonymous_variant,0.253,\N,\N,ALMS1
445003,2:73680620:C>T,NM_015120.4:c.6963C>T,NP_055935.4:p.Phe2323=,8/23,\N,Unknown significance,\N,synonymous_variant,6.26,0.00026469,EVS_AA_AF,ALMS1
445004,2:73680630:A>G,NM_015120.4:c.6973A>G,NP_055935.4:p.Ser2327Gly,8/23,\N,Likely benign,\N,missense_variant,11.92,0.001,1KG_SAS_AF,ALMS1
445005,2:73680652:A>G,NM_015120.4:c.6995A>G,NP_055935.4:p.Gln2334Arg,8/23,\N,Unknown significance,\N,missense_variant,23.6,0.0000150137,EXAC_NFE_AF,ALMS1
445006,2:73680658:A>T,NM_015120.4:c.7001A>T,NP_055935.4:p.Asp2336Val,8/23,\N,Unknown significance,\N,missense_variant,25.2,0.0000150182,EXAC_NFE_AF,ALMS1
445007,2:73680659:T>C,NM_015120.4:c.7002T>C,NP_055935.4:p.Asp2336=,8/23,\N,Unknown significance,\N,synonymous_variant,1.16,0.0000150182,EXAC_NFE_AF,ALMS1
445008,2:73680661:T>G,NM_015120.4:c.7004T>G,NP_055935.4:p.Ile2337Ser,8/23,\N,Unknown significance,\N,missense_variant,25,0.0000150186,EXAC_NFE_AF,ALMS1
445009,2:73680666:A>C,NM_015120.4:c.7009A>C,NP_055935.4:p.Thr2339Pro,8/23,\N,Unknown significance,\N,missense_variant,24.7,0.000349081,EXAC_EAS_AF,ALMS1
445010,2:73680667:C>A,NM_015120.4:c.7010C>A,NP_055935.4:p.Thr2339Lys,8/23,\N,Unknown significance,\N,missense_variant,31,0.000265675,EVS_AA_AF,ALMS1
445011,2:73680667:C>T,NM_015120.4:c.7010C>T,NP_055935.4:p.Thr2339Ile,8/23,\N,Unknown significance,\N,missense_variant,28.1,0.00111359,EXAC_OTH_AF,ALMS1
445012,2:73680671:G>A,NM_015120.4:c.7014G>A,NP_055935.4:p.Gln2340=,8/23,\N,Unknown significance,\N,synonymous_variant,6.695,0.0008,1KG_AFR_AF,ALMS1
445013,2:73680673:C>T,NM_015120.4:c.7016C>T,NP_055935.4:p.Thr2341Met,8/23,\N,Unknown significance,\N,missense_variant,28.7,0.000121183,EXAC_SAS_AF,ALMS1
445014,2:73680674:G>A,NM_015120.4:c.7017G>A,NP_055935.4:p.Thr2341=,8/23,\N,Unknown significance,\N,synonymous_variant,10.79,0.000121168,EXAC_SAS_AF,ALMS1
445015,2:73680685:G>C,NM_015120.4:c.7028G>C,NP_055935.4:p.Cys2345Ser,8/23,\N,Likely benign,\N,missense_variant,22.7,0.001,1KG_EUR_AF,ALMS1
445016,2:73680686:C>G,NM_015120.4:c.7029C>G,NP_055935.4:p.Cys2345Trp,8/23,\N,Unknown significance,\N,missense_variant,27.3,0.000116279,EXAC_EAS_AF,ALMS1
445017,2:73680687:C>T,NM_015120.4:c.7030C>T,NP_055935.4:p.Arg2346Trp,8/23,\N,Unknown significance,\N,missense_variant,33,0.000116333,EXAC_EAS_AF,ALMS1
445018,2:73680688:G>A,NM_015120.4:c.7031G>A,NP_055935.4:p.Arg2346Gln,8/23,\N,Likely benign,\N,missense_variant,12.97,0.0000870171,EXAC_AMR_AF,ALMS1
445019,2:73680691:G>A,NM_015120.4:c.7034G>A,NP_055935.4:p.Arg2347Lys,8/23,\N,Likely benign,\N,missense_variant,23.1,0.0000870171,EXAC_AMR_AF,ALMS1
445020,2:73680694:G>T,NM_015120.4:c.7037G>T,NP_055935.4:p.Gly2348Val,8/23,\N,Unknown significance,\N,missense_variant,25.6,0.000302755,EXAC_FIN_AF,ALMS1
445021,2:73680721:C>T,NM_015120.4:c.7064C>T,NP_055935.4:p.Ser2357Leu,8/23,\N,Unknown significance,\N,missense_variant,27.6,0.0000300851,EXAC_NFE_AF,ALMS1
445022,2:73680727:C>T,NM_015120.4:c.7070C>T,NP_055935.4:p.Thr2359Ile,8/23,\N,Unknown significance,\N,missense_variant,26.3,0.000116442,EXAC_EAS_AF,ALMS1
445023,2:73680743:A>G,NM_015120.4:c.7086A>G,NP_055935.4:p.Leu2364=,8/23,\N,Unknown significance,\N,synonymous_variant,0.748,0.000015048,EXAC_NFE_AF,ALMS1
445024,2:73680745:A>C,NM_015120.4:c.7088A>C,NP_055935.4:p.Gln2365Pro,8/23,\N,Unknown significance,\N,missense_variant,17.18,0.000121389,EVS_EA_AF,ALMS1
445025,2:73680757:G>A,NM_015120.4:c.7100G>A,NP_055935.4:p.Ser2369Asn,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000150448,EXAC_NFE_AF,ALMS1
445026,2:73680762:G>C,NM_015120.4:c.7105G>C,NP_055935.4:p.Val2371Leu,8/23,\N,Unknown significance,\N,missense_variant,14.85,\N,\N,ALMS1
445027,2:73680768:A>G,NM_015120.4:c.7111A>G,NP_055935.4:p.Met2373Val,8/23,\N,Likely benign,\N,missense_variant,0.001,0.0000150408,EXAC_NFE_AF,ALMS1
445028,2:73680770:G>A,NM_015120.4:c.7113G>A,NP_055935.4:p.Met2373Ile,8/23,\N,Unknown significance,\N,missense_variant,11.11,0.0000150421,EXAC_NFE_AF,ALMS1
445029,2:73680776:A>G,NM_015120.4:c.7119A>G,NP_055935.4:p.Leu2375=,8/23,\N,Unknown significance,\N,synonymous_variant,1.536,0.000103455,EXAC_AFR_AF,ALMS1
445030,2:73680777:G>T,NM_015120.4:c.7120G>T,NP_055935.4:p.Glu2376Ter,8/23,\N,Unknown significance,\N,stop_gained,39,\N,\N,ALMS1
445031,2:73680780:G>C,NM_015120.4:c.7123G>C,NP_055935.4:p.Glu2377Gln,8/23,\N,Unknown significance,\N,missense_variant,25.2,0.0008,1KG_AFR_AF,ALMS1
445032,2:73680786:C>G,NM_015120.4:c.7129C>G,NP_055935.4:p.Leu2379Val,8/23,\N,Unknown significance,\N,missense_variant,12.42,0.0000450816,EXAC_NFE_AF,ALMS1
445033,2:73680787:T>C,NM_015120.4:c.7130T>C,NP_055935.4:p.Leu2379Pro,8/23,\N,Unknown significance,\N,missense_variant,21.8,0.0000605767,EXAC_SAS_AF,ALMS1
445034,2:73680787:T>G,NM_015120.4:c.7130T>G,NP_055935.4:p.Leu2379Arg,8/23,\N,Unknown significance,\N,missense_variant,22.4,0.0000865801,EXAC_AMR_AF,ALMS1
445035,2:73680794:A>G,NM_015120.4:c.7137A>G,NP_055935.4:p.Gln2381=,8/23,\N,Unknown significance,\N,synonymous_variant,0.031,0.000265252,EVS_AA_AF,ALMS1
445036,2:73680799:A>G,NM_015120.4:c.7142A>G,NP_055935.4:p.Gln2383Arg,8/23,\N,Likely benign,\N,missense_variant,0.334,0.0000150092,EXAC_NFE_AF,ALMS1
445037,2:73680801:G>A,NM_015120.4:c.7144G>A,NP_055935.4:p.Ala2384Thr,8/23,\N,Likely benign,\N,missense_variant,12.1,0.000116279,EXAC_EAS_AF,ALMS1
445038,2:73680819:A>C,NM_015120.4:c.7162A>C,NP_055935.4:p.Arg2390=,8/23,\N,Unknown significance,\N,synonymous_variant,0.675,0.000121139,EXAC_SAS_AF,ALMS1
445039,2:73680826:A>T,NM_015120.4:c.7169A>T,NP_055935.4:p.Glu2392Val,8/23,\N,Unknown significance,\N,missense_variant,28.3,0.000121448,EVS_EA_AF,ALMS1
445040,2:73680838:G>A,NM_015120.4:c.7181G>A,NP_055935.4:p.Cys2396Tyr,8/23,\N,Likely benign,\N,missense_variant,0.027,0.000102041,EXAC_AFR_AF,ALMS1
445041,2:73680847:C>A,NM_015120.4:c.7190C>A,NP_055935.4:p.Thr2399Asn,8/23,\N,Unknown significance,\N,missense_variant,24.5,0.000121389,EVS_EA_AF,ALMS1
445042,2:73680847:C>T,NM_015120.4:c.7190C>T,NP_055935.4:p.Thr2399Ile,8/23,\N,Unknown significance,\N,missense_variant,24.7,0.000464792,EXAC_EAS_AF,ALMS1
445043,2:73680853:G>A,NM_015120.4:c.7196G>A,NP_055935.4:p.Gly2401Glu,8/23,\N,Unknown significance,\N,missense_variant,25.9,0.00034656,EXAC_AMR_AF,ALMS1
445044,2:73680881:T>C,NM_015120.4:c.7224T>C,NP_055935.4:p.Thr2410=,8/23,\N,Unknown significance,\N,synonymous_variant,0.937,0.0000149867,EXAC_NFE_AF,ALMS1
445045,2:73680885:A>AT,NM_015120.4:c.7229dup,NP_055935.4:p.Ser2414LysfsTer2,8/23,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ALMS1
445046,2:73680890:A>C,NM_015120.4:c.7233A>C,NP_055935.4:p.Lys2413Asn,8/23,\N,Unknown significance,\N,missense_variant,24.9,0.000060562,EXAC_SAS_AF,ALMS1
445047,2:73680899:A>G,NM_015120.4:c.7242A>G,NP_055935.4:p.Ser2416=,8/23,\N,Unknown significance,\N,synonymous_variant,8.167,0.0000605694,EXAC_SAS_AF,ALMS1
445048,2:73680904:G>T,NM_015120.4:c.7247G>T,NP_055935.4:p.Ser2418Ile,8/23,\N,Unknown significance,\N,missense_variant,28.3,0.0000865202,EXAC_AMR_AF,ALMS1
445049,2:73680905:T>C,NM_015120.4:c.7248T>C,NP_055935.4:p.Ser2418=,8/23,\N,Unknown significance,\N,synonymous_variant,6.683,0.0000149871,EXAC_NFE_AF,ALMS1
445050,2:73680912:A>C,NM_015120.4:c.7255A>C,NP_055935.4:p.Ser2421Arg,8/23,\N,Unknown significance,\N,missense_variant,26.2,0.0000149867,EXAC_NFE_AF,ALMS1
445051,2:73680922:A>G,NM_015120.4:c.7265A>G,NP_055935.4:p.Asn2424Ser,8/23,\N,Benign,\N,missense_variant,19.83,0.0182,1KG_AFR_AF,ALMS1
445052,2:73680929:C>G,NM_015120.4:c.7272C>G,NP_055935.4:p.Ser2426=,8/23,\N,Unknown significance,\N,synonymous_variant,13.88,0.0000149876,EXAC_NFE_AF,ALMS1
445053,2:73680929:C>T,NM_015120.4:c.7272C>T,NP_055935.4:p.Ser2426=,8/23,\N,Unknown significance,\N,synonymous_variant,15.34,0.000060562,EXAC_SAS_AF,ALMS1
445054,2:73680930:T>G,NM_015120.4:c.7273T>G,NP_055935.4:p.Cys2427Gly,8/23,\N,Unknown significance,\N,missense_variant,23.3,0.0008,1KG_AFR_AF,ALMS1
445055,2:73680931:G>C,NM_015120.4:c.7274G>C,NP_055935.4:p.Cys2427Ser,8/23,\N,Likely benign,\N,missense_variant,20.3,0.000060562,EXAC_SAS_AF,ALMS1
445056,2:73680931:G>T,NM_015120.4:c.7274G>T,NP_055935.4:p.Cys2427Phe,8/23,\N,Unknown significance,\N,missense_variant,24.9,0.0031,1KG_SAS_AF,ALMS1
445057,2:73680934:C>T,NM_015120.4:c.7277C>T,NP_055935.4:p.Ser2428Leu,8/23,\N,Unknown significance,\N,missense_variant,34,0.000242248,EXAC_SAS_AF,ALMS1
445058,2:73680935:G>A,NM_015120.4:c.7278G>A,NP_055935.4:p.Ser2428=,8/23,\N,Unknown significance,\N,synonymous_variant,12.92,0.0000865202,EXAC_AMR_AF,ALMS1
445059,2:73680942:A>C,NM_015120.4:c.7285A>C,NP_055935.4:p.Ser2431Arg,8/23,\N,Unknown significance,\N,missense_variant,25.1,0.0000899227,EXAC_NFE_AF,ALMS1
445060,2:73680949:T>C,NM_015120.4:c.7292T>C,NP_055935.4:p.Leu2433Ser,8/23,\N,Unknown significance,\N,missense_variant,23.7,0.000116063,EXAC_EAS_AF,ALMS1
445061,2:73680972:T>C,NM_015120.4:c.7315T>C,NP_055935.4:p.Ser2441Pro,8/23,\N,Unknown significance,\N,missense_variant,26.6,0.0000865951,EXAC_AMR_AF,ALMS1
445062,2:73680982:T>G,NM_015120.4:c.7325T>G,NP_055935.4:p.Leu2444Arg,8/23,\N,Unknown significance,\N,missense_variant,27.3,0.000102082,EXAC_AFR_AF,ALMS1
445063,2:73680998:A>G,NM_015120.4:c.7341A>G,NP_055935.4:p.Pro2449=,8/23,\N,Unknown significance,\N,synonymous_variant,5.817,0.001,1KG_SAS_AF,ALMS1
445064,2:73680999:T>C,NM_015120.4:c.7342T>C,NP_055935.4:p.Tyr2450His,8/23,\N,Likely benign,\N,missense_variant,15.28,0.000116171,EXAC_EAS_AF,ALMS1
445065,2:73681000:A>C,NM_015120.4:c.7343A>C,NP_055935.4:p.Tyr2450Ser,8/23,\N,Likely benign,\N,missense_variant,15.94,0.000116144,EXAC_EAS_AF,ALMS1
445066,2:73681000:A>G,NM_015120.4:c.7343A>G,NP_055935.4:p.Tyr2450Cys,8/23,\N,Likely benign,\N,missense_variant,13.42,0.0000599628,EXAC_NFE_AF,ALMS1
445067,2:73681001:T>C,NM_015120.4:c.7344T>C,NP_055935.4:p.Tyr2450=,8/23,\N,Unknown significance,\N,synonymous_variant,0.022,0.0000149907,EXAC_NFE_AF,ALMS1
445068,2:73681009:CCAAGA>C,NM_015120.4:c.7357_7361del,NP_055935.4:p.Thr2455TyrfsTer4,8/23,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,ALMS1
445069,2:73681015:C>T,NM_015120.4:c.7358C>T,NP_055935.4:p.Thr2455Ile,8/23,\N,Unknown significance,\N,missense_variant,22.8,0.0000149939,EXAC_NFE_AF,ALMS1
445070,2:73681015:CAAGTAT>C,NM_015120.4:c.7361_7366del,NP_055935.4:p.Ser2456_Ile2457del,8/23,\N,Unknown significance,\N,inframe_deletion,\N,\N,\N,ALMS1
445071,2:73681023:A>C,NM_015120.4:c.7366A>C,NP_055935.4:p.Thr2458Pro,8/23,\N,Likely benign,\N,missense_variant,23.3,0.0000605767,EXAC_SAS_AF,ALMS1
445072,2:73681024:C>T,NM_015120.4:c.7367C>T,NP_055935.4:p.Thr2458Ile,8/23,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,ALMS1
445073,2:73681028:T>G,NM_015120.4:c.7371T>G,NP_055935.4:p.Asp2459Glu,8/23,\N,Unknown significance,\N,missense_variant,25.9,0.000121197,EXAC_SAS_AF,ALMS1
445074,2:73681030:G>C,NM_015120.4:c.7373G>C,NP_055935.4:p.Ser2460Thr,8/23,\N,Unknown significance,\N,missense_variant,25.6,0.0000149961,EXAC_NFE_AF,ALMS1
445075,2:73681032:A>G,NM_015120.4:c.7375A>G,NP_055935.4:p.Arg2461Gly,8/23,\N,Unknown significance,\N,missense_variant,25.7,0.000014997,EXAC_NFE_AF,ALMS1
445076,2:73681042:A>G,NM_015120.4:c.7385A>G,NP_055935.4:p.Glu2464Gly,8/23,\N,Unknown significance,\N,missense_variant,28.1,0.000257732,EVS_AA_AF,ALMS1
445077,2:73681045:G>A,NM_015120.4:c.7388G>A,NP_055935.4:p.Gly2465Asp,8/23,\N,Unknown significance,\N,missense_variant,24.2,0.000102354,EXAC_AFR_AF,ALMS1
445078,2:73681058:T>A,NM_015120.4:c.7401T>A,NP_055935.4:p.Ser2469Arg,8/23,\N,Unknown significance,\N,missense_variant,26.7,0.000102438,EXAC_AFR_AF,ALMS1
445079,2:73681059:G>A,NM_015120.4:c.7402G>A,NP_055935.4:p.Glu2470Lys,8/23,\N,Unknown significance,\N,missense_variant,25.5,0.000120656,EVS_EA_AF,ALMS1
445080,2:73681060:A>G,NM_015120.4:c.7403A>G,NP_055935.4:p.Glu2470Gly,8/23,\N,Unknown significance,\N,missense_variant,24.6,0.0000150137,EXAC_NFE_AF,ALMS1
445081,2:73681062:G>A,NM_015120.4:c.7405G>A,NP_055935.4:p.Asp2471Asn,8/23,\N,Unknown significance,\N,missense_variant,29.7,0.0000871384,EXAC_AMR_AF,ALMS1
445082,2:73681069:G>A,NM_015120.4:c.7412G>A,NP_055935.4:p.Gly2473Asp,8/23,\N,Likely benign,\N,missense_variant,22.9,0.000015039,EXAC_NFE_AF,ALMS1
445083,2:73681080:G>A,NM_015120.4:c.7423G>A,NP_055935.4:p.Val2477Ile,8/23,\N,Likely benign,\N,missense_variant,11.86,\N,\N,ALMS1
445084,2:73681095:G>A,NM_015120.4:c.7438G>A,NP_055935.4:p.Ala2482Thr,8/23,\N,Unknown significance,\N,missense_variant,26,0.000103627,EXAC_AFR_AF,ALMS1
445085,2:73681099:A>G,NM_015120.4:c.7442A>G,NP_055935.4:p.His2483Arg,8/23,\N,Unknown significance,\N,missense_variant,22.8,0.000103756,EXAC_AFR_AF,ALMS1
445086,2:73681101:G>A,NM_015120.4:c.7444G>A,NP_055935.4:p.Val2484Met,8/23,\N,Unknown significance,\N,missense_variant,27.8,0.0000885269,EXAC_AMR_AF,ALMS1
445087,2:73681102:T>A,NM_015120.4:c.7445T>A,NP_055935.4:p.Val2484Glu,8/23,\N,Unknown significance,\N,missense_variant,29.8,0.0000459095,EXAC_NFE_AF,ALMS1
445088,2:73681109:CCTT>C,NM_015120.4:c.7455_7457del,NP_055935.4:p.Leu2488del,8/23,\N,Unknown significance,\N,inframe_deletion,19.31,0.000118991,EXAC_EAS_AF,ALMS1
445089,2:73681118:A>G,NM_015120.4:c.7461A>G,NP_055935.4:p.Gln2489=,8/23,\N,Unknown significance,\N,synonymous_variant,4.683,0.00107469,EXAC_AMR_AF,ALMS1
445090,2:73681126:C>T,NM_015120.4:c.7469C>T,NP_055935.4:p.Ser2492Phe,8/23,\N,Unknown significance,\N,missense_variant,29.9,0.00012219,EXAC_EAS_AF,ALMS1
445091,2:73681141:C>T,NM_015120.4:c.7484C>T,NP_055935.4:p.Ala2497Val,8/23,\N,Unknown significance,\N,missense_variant,32,0.0000654365,EXAC_SAS_AF,ALMS1
445092,2:73681142:T>C,NM_015120.4:c.7485T>C,NP_055935.4:p.Ala2497=,8/23,\N,Unknown significance,\N,synonymous_variant,6.769,0.0000162602,EXAC_NFE_AF,ALMS1
445093,2:73681149:A>G,NM_015120.4:c.7492A>G,NP_055935.4:p.Ile2500Val,8/23,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,ALMS1
445094,2:73681154:C>T,NM_015120.4:c.7497C>T,NP_055935.4:p.Leu2501=,8/23,\N,Unknown significance,\N,synonymous_variant,12.71,0.000135612,EXAC_EAS_AF,ALMS1
445095,2:73681161:G>A,NM_015120.4:c.7504G>A,NP_055935.4:p.Ala2504Thr,8/23,\N,Unknown significance,\N,missense_variant,29.7,0.00036523,EVS_EA_AF,ALMS1
445096,2:73681161:G>T,NM_015120.4:c.7504G>T,NP_055935.4:p.Ala2504Ser,8/23,\N,Unknown significance,\N,missense_variant,27.3,0.000296677,EXAC_AMR_AF,ALMS1
445097,2:73681164:G>T,NM_015120.4:c.7507G>T,NP_055935.4:p.Glu2505Ter,8/23,\N,Unknown significance,\N,stop_gained,48,0.0000176841,EXAC_NFE_AF,ALMS1
445098,2:73681168:A>G,NM_015120.4:c.7511A>G,NP_055935.4:p.Glu2506Gly,8/23,\N,Unknown significance,\N,missense_variant,29.3,0.000146028,EXAC_EAS_AF,ALMS1
445099,2:73681175:A>T,NM_015120.4:c.7518A>T,NP_055935.4:p.Glu2508Asp,8/23,\N,Unknown significance,\N,missense_variant,25.9,0.0000186658,EXAC_NFE_AF,ALMS1
445100,2:73681178:C>T,NM_015120.4:c.7521C>T,NP_055935.4:p.Ser2509=,8/23,\N,Unknown significance,\N,synonymous_variant,12.34,\N,\N,ALMS1
445101,2:73681179:C>T,NM_015120.4:c.7522C>T,NP_055935.4:p.Arg2510Trp,8/23,\N,Unknown significance,\N,missense_variant,35,0.000394529,EXAC_AFR_AF,ALMS1
445102,2:73681180:G>A,NM_015120.4:c.7523G>A,NP_055935.4:p.Arg2510Gln,8/23,\N,Unknown significance,\N,missense_variant,25.9,0.001,1KG_SAS_AF,ALMS1
445103,2:73681186:G>A,NM_015120.4:c.7529G>A,NP_055935.4:p.Arg2512Gln,8/23,\N,Unknown significance,\N,missense_variant,34,0.000122971,EXAC_AMR_AF,ALMS1
445104,2:73681191:C>CATA,NM_015120.4:c.7536_7537insAAT,NP_055935.4:p.His2514_Ala2515insAsn,8/23,\N,Unknown significance,\N,inframe_insertion,15.35,0.000021795,EXAC_NFE_AF,ALMS1
445105,2:73681195:G>T,NM_015120.4:c.7537+1G>T,\N,\N,8/22,Unknown significance,\N,splice_donor_variant,24.2,0.000022685,EXAC_NFE_AF,ALMS1
445106,2:73681197:A>G,NM_015120.4:c.7537+3A>G,\N,\N,8/22,Benign,\N,splice_region_variant&intron_variant,12.83,0.0051,1KG_SAS_AF,ALMS1
445107,2:73681208:T>G,NM_015120.4:c.7537+14T>G,\N,\N,8/22,Unknown significance,\N,intron_variant,9.367,0.001,1KG_SAS_AF,ALMS1
445108,2:73681211:A>G,NM_015120.4:c.7537+17A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,8.328,\N,\N,ALMS1
445109,2:73681213:G>A,NM_015120.4:c.7537+19G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,7.438,0.001,1KG_EUR_AF,ALMS1
445110,2:73681216:T>G,NM_015120.4:c.7537+22T>G,\N,\N,8/22,Unknown significance,\N,intron_variant,8.206,0.000234302,EXAC_AFR_AF,ALMS1
445111,2:73681218:T>C,NM_015120.4:c.7537+24T>C,\N,\N,8/22,Unknown significance,\N,intron_variant,7.559,\N,\N,ALMS1
445112,2:73681222:C>T,NM_015120.4:c.7537+28C>T,\N,\N,8/22,Unknown significance,\N,intron_variant,5.946,0.0000385119,EXAC_NFE_AF,ALMS1
445113,2:73681223:G>A,NM_015120.4:c.7537+29G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,3.276,0.001,1KG_EAS_AF,ALMS1
445114,2:73681231:TTAA>T,NM_015120.4:c.7537+42_7537+44del,\N,\N,8/22,Unknown significance,\N,intron_variant,8.495,\N,\N,ALMS1
445115,2:73681303:A>G,NM_015120.4:c.7537+109A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,0.153,\N,\N,ALMS1
445116,2:73681304:GA>G,NM_015120.4:c.7537+118del,\N,\N,8/22,Benign,\N,intron_variant,0.19,0.0419,1KG_SAS_AF,ALMS1
445117,2:73681329:G>C,NM_015120.4:c.7537+135G>C,\N,\N,8/22,Unknown significance,\N,intron_variant,0.756,0.0041,1KG_SAS_AF,ALMS1
445118,2:73681392:A>G,NM_015120.4:c.7537+198A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,3.539,0.002,1KG_EAS_AF,ALMS1
445119,2:73681430:A>G,NM_015120.4:c.7537+236A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,7.423,0.001,1KG_EUR_AF,ALMS1
445120,2:73681503:G>T,NM_015120.4:c.7537+309G>T,\N,\N,8/22,Unknown significance,\N,intron_variant,2.484,0.003,1KG_AFR_AF,ALMS1
445121,2:73681533:C>A,NM_015120.4:c.7537+339C>A,\N,\N,8/22,Unknown significance,\N,intron_variant,7.815,\N,\N,ALMS1
445122,2:73681548:A>G,NM_015120.4:c.7537+354A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,0.873,\N,\N,ALMS1
445123,2:73681563:G>A,NM_015120.4:c.7537+369G>A,\N,\N,8/22,Benign,\N,intron_variant,2.238,0.0082,1KG_SAS_AF,ALMS1
445124,2:73681580:G>A,NM_015120.4:c.7537+386G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,8.142,0.0014,1KG_AMR_AF,ALMS1
445125,2:73681591:C>T,NM_015120.4:c.7537+397C>T,\N,\N,8/22,Benign,\N,intron_variant,7.6,0.0711,1KG_AFR_AF,ALMS1
445126,2:73681601:C>G,NM_015120.4:c.7537+407C>G,\N,\N,8/22,Unknown significance,\N,intron_variant,9.855,\N,\N,ALMS1
445127,2:73681617:T>C,NM_015120.4:c.7537+423T>C,\N,\N,8/22,Unknown significance,\N,intron_variant,5.061,\N,\N,ALMS1
445128,2:73681637:AT>A,NM_015120.4:c.7537+444del,\N,\N,8/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445129,2:73681639:A>G,NM_015120.4:c.7537+445A>G,\N,\N,8/22,Benign,\N,intron_variant,16.29,0.6051,1KG_AFR_AF,ALMS1
445130,2:73681691:G>GA,NM_015120.4:c.7537+506dup,\N,\N,8/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445131,2:73681700:AT>A,NM_015120.4:c.7537+507del,\N,\N,8/22,Unknown significance,\N,intron_variant,1.34,\N,\N,ALMS1
445132,2:73681701:T>A,NM_015120.4:c.7537+507T>A,\N,\N,8/22,Benign,\N,intron_variant,5.864,0.1384,1KG_AFR_AF,ALMS1
445133,2:73681704:A>G,NM_015120.4:c.7537+510A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,6.434,0.0008,1KG_AFR_AF,ALMS1
445134,2:73681718:A>C,NM_015120.4:c.7537+524A>C,\N,\N,8/22,Unknown significance,\N,intron_variant,0.829,\N,\N,ALMS1
445135,2:73681799:G>C,NM_015120.4:c.7538-490G>C,\N,\N,8/22,Unknown significance,\N,intron_variant,0.637,\N,\N,ALMS1
445136,2:73681859:G>GA,NM_015120.4:c.7538-427dup,\N,\N,8/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445137,2:73681868:C>T,NM_015120.4:c.7538-421C>T,\N,\N,8/22,Unknown significance,\N,intron_variant,11.39,\N,\N,ALMS1
445138,2:73681874:G>A,NM_015120.4:c.7538-415G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,13.15,\N,\N,ALMS1
445139,2:73681887:C>G,NM_015120.4:c.7538-402C>G,\N,\N,8/22,Benign,\N,intron_variant,1.736,0.0099,1KG_EUR_AF,ALMS1
445140,2:73681887:C>T,NM_015120.4:c.7538-402C>T,\N,\N,8/22,Unknown significance,\N,intron_variant,3.442,\N,\N,ALMS1
445141,2:73681900:A>G,NM_015120.4:c.7538-389A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,2.719,\N,\N,ALMS1
445142,2:73681904:T>A,NM_015120.4:c.7538-385T>A,\N,\N,8/22,Unknown significance,\N,intron_variant,8.856,\N,\N,ALMS1
445143,2:73681914:C>CA,NM_015120.4:c.7538-368dup,\N,\N,8/22,Benign,\N,intron_variant,4.073,0.0082,1KG_SAS_AF,ALMS1
445144,2:73681937:T>A,NM_015120.4:c.7538-352T>A,\N,\N,8/22,Unknown significance,\N,intron_variant,5.394,\N,\N,ALMS1
445145,2:73681965:A>G,NM_015120.4:c.7538-324A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,1.852,0.0014,1KG_AMR_AF,ALMS1
445146,2:73681998:G>A,NM_015120.4:c.7538-291G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,3.253,0.0015,1KG_AFR_AF,ALMS1
445147,2:73682005:A>G,NM_015120.4:c.7538-284A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,2.251,0.0008,1KG_AFR_AF,ALMS1
445148,2:73682027:G>A,NM_015120.4:c.7538-262G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,1.796,\N,\N,ALMS1
445149,2:73682033:G>A,NM_015120.4:c.7538-256G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,5.181,0.0008,1KG_AFR_AF,ALMS1
445150,2:73682038:A>C,NM_015120.4:c.7538-251A>C,\N,\N,8/22,Unknown significance,\N,intron_variant,1.118,\N,\N,ALMS1
445151,2:73682053:C>T,NM_015120.4:c.7538-236C>T,\N,\N,8/22,Unknown significance,\N,intron_variant,2.621,0.0008,1KG_AFR_AF,ALMS1
445152,2:73682102:A>G,NM_015120.4:c.7538-187A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,10.79,\N,\N,ALMS1
445153,2:73682109:G>C,NM_015120.4:c.7538-180G>C,\N,\N,8/22,Benign,\N,intron_variant,10.93,0.1326,1KG_AMR_AF,ALMS1
445154,2:73682126:A>G,NM_015120.4:c.7538-163A>G,\N,\N,8/22,Benign,\N,intron_variant,10.37,0.0719,1KG_AFR_AF,ALMS1
445155,2:73682126:A>T,NM_015120.4:c.7538-163A>T,\N,\N,8/22,Unknown significance,\N,intron_variant,9.296,\N,\N,ALMS1
445156,2:73682177:T>G,NM_015120.4:c.7538-112T>G,\N,\N,8/22,Unknown significance,\N,intron_variant,3.467,0.002,1KG_SAS_AF,ALMS1
445157,2:73682178:A>G,NM_015120.4:c.7538-111A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,1.934,\N,\N,ALMS1
445158,2:73682199:A>T,NM_015120.4:c.7538-90A>T,\N,\N,8/22,Unknown significance,\N,intron_variant,0.173,0.001,1KG_EAS_AF,ALMS1
445159,2:73682201:T>A,NM_015120.4:c.7538-88T>A,\N,\N,8/22,Unknown significance,\N,intron_variant,7.189,\N,\N,ALMS1
445160,2:73682204:A>G,NM_015120.4:c.7538-85A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,2.351,0.001,1KG_SAS_AF,ALMS1
445161,2:73682208:A>G,NM_015120.4:c.7538-81A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,2.068,\N,\N,ALMS1
445162,2:73682238:C>A,NM_015120.4:c.7538-51C>A,\N,\N,8/22,Unknown significance,\N,intron_variant,5.432,0.000348513,EXAC_EAS_AF,ALMS1
445163,2:73682247:A>T,NM_015120.4:c.7538-42A>T,\N,\N,8/22,Unknown significance,\N,intron_variant,6.717,0.0038,1KG_AFR_AF,ALMS1
445164,2:73682253:G>A,NM_015120.4:c.7538-36G>A,\N,\N,8/22,Unknown significance,\N,intron_variant,5.324,0.0000606134,EXAC_SAS_AF,ALMS1
445165,2:73682255:A>G,NM_015120.4:c.7538-34A>G,\N,\N,8/22,Unknown significance,\N,intron_variant,6.993,0.0000606649,EXAC_SAS_AF,ALMS1
445166,2:73682255:A>T,NM_015120.4:c.7538-34A>T,\N,\N,8/22,Benign,\N,intron_variant,5.48,0.006,1KG_EUR_AF,ALMS1
445167,2:73682256:T>C,NM_015120.4:c.7538-33T>C,\N,\N,8/22,Benign,\N,intron_variant,3.59,0.0109654,EXAC_AFR_AF,ALMS1
445168,2:73682272:G>C,NM_015120.4:c.7538-17G>C,\N,\N,8/22,Unknown significance,\N,intron_variant,9.162,0.0000150087,EXAC_NFE_AF,ALMS1
445169,2:73682275:T>C,NM_015120.4:c.7538-14T>C,\N,\N,8/22,Unknown significance,\N,intron_variant,13.76,0.0015,1KG_AFR_AF,ALMS1
445170,2:73682277:C>T,NM_015120.4:c.7538-12C>T,\N,\N,8/22,Unknown significance,\N,intron_variant,17.34,0.0000150083,EXAC_NFE_AF,ALMS1
445171,2:73682293:G>A,NM_015120.4:c.7542G>A,NP_055935.4:p.Trp2516Ter,9/23,\N,Unknown significance,\N,stop_gained,45,\N,\N,ALMS1
445172,2:73682294:A>T,NM_015120.4:c.7543A>T,NP_055935.4:p.Asn2517Tyr,9/23,\N,Unknown significance,\N,missense_variant,28,0.000116117,EXAC_EAS_AF,ALMS1
445173,2:73682295:A>G,NM_015120.4:c.7544A>G,NP_055935.4:p.Asn2517Ser,9/23,\N,Unknown significance,\N,missense_variant,25.8,0.000116117,EXAC_EAS_AF,ALMS1
445174,2:73682299:G>A,NM_015120.4:c.7548G>A,NP_055935.4:p.Met2518Ile,9/23,\N,Likely benign,\N,missense_variant,23.6,\N,\N,ALMS1
445175,2:73682306:A>C,NM_015120.4:c.7555A>C,NP_055935.4:p.Asn2521His,9/23,\N,Unknown significance,\N,missense_variant,26.1,0.000102501,EXAC_AFR_AF,ALMS1
445176,2:73682307:A>G,NM_015120.4:c.7556A>G,NP_055935.4:p.Asn2521Ser,9/23,\N,Unknown significance,\N,missense_variant,26.3,0.000121981,EVS_EA_AF,ALMS1
445177,2:73682310:T>C,NM_015120.4:c.7559T>C,NP_055935.4:p.Leu2522Ser,9/23,\N,Unknown significance,\N,missense_variant,27.7,0.0000606134,EXAC_SAS_AF,ALMS1
445178,2:73682316:A>G,NM_015120.4:c.7565A>G,NP_055935.4:p.His2524Arg,9/23,\N,Likely benign,\N,missense_variant,1.385,0.0000865202,EXAC_AMR_AF,ALMS1
445179,2:73682325:G>A,NM_015120.4:c.7574G>A,NP_055935.4:p.Gly2527Glu,9/23,\N,Unknown significance,\N,missense_variant,28.9,0.000121892,EVS_EA_AF,ALMS1
445180,2:73682325:G>C,NM_015120.4:c.7574G>C,NP_055935.4:p.Gly2527Ala,9/23,\N,Unknown significance,\N,missense_variant,26.3,0.001,1KG_EUR_AF,ALMS1
445181,2:73682329:C>A,NM_015120.4:c.7578C>A,NP_055935.4:p.Tyr2528Ter,9/23,\N,Unknown significance,\N,stop_gained,44,\N,\N,ALMS1
445182,2:73682331:C>T,NM_015120.4:c.7580C>T,NP_055935.4:p.Ser2529Phe,9/23,\N,Unknown significance,\N,missense_variant,31,0.0008,1KG_AFR_AF,ALMS1
445183,2:73682344:A>G,NM_015120.4:c.7593A>G,NP_055935.4:p.Leu2533=,9/23,\N,Unknown significance,\N,synonymous_variant,10.07,0.0000606061,EXAC_SAS_AF,ALMS1
445184,2:73682352:A>G,NM_015120.4:c.7601A>G,NP_055935.4:p.Asp2536Gly,9/23,\N,Unknown significance,\N,missense_variant,27.4,0.0000150114,EXAC_NFE_AF,ALMS1
445185,2:73682377:C>G,NM_015120.4:c.7626C>G,NP_055935.4:p.Ile2544Met,9/23,\N,Unknown significance,\N,missense_variant,25.3,0.000116442,EXAC_EAS_AF,ALMS1
445186,2:73682378:A>C,NM_015120.4:c.7627A>C,NP_055935.4:p.Lys2545Gln,9/23,\N,Unknown significance,\N,missense_variant,26.9,0.00012216,EVS_EA_AF,ALMS1
445187,2:73682383:A>G,NM_015120.4:c.7632A>G,NP_055935.4:p.Ala2546=,9/23,\N,Unknown significance,\N,synonymous_variant,10.44,0.0000150227,EXAC_NFE_AF,ALMS1
445188,2:73682387:T>C,NM_015120.4:c.7636T>C,NP_055935.4:p.Leu2548=,9/23,\N,Unknown significance,\N,synonymous_variant,8.16,0.0000606208,EXAC_SAS_AF,ALMS1
445189,2:73682387:T>G,NM_015120.4:c.7636T>G,NP_055935.4:p.Leu2548Val,9/23,\N,Unknown significance,\N,missense_variant,25.5,0.0008,1KG_AFR_AF,ALMS1
445190,2:73682390:T>C,NM_015120.4:c.7639T>C,NP_055935.4:p.Phe2549Leu,9/23,\N,Unknown significance,\N,missense_variant,26.9,0.0000300634,EXAC_NFE_AF,ALMS1
445191,2:73682398:T>C,NM_015120.4:c.7647T>C,NP_055935.4:p.His2551=,9/23,\N,Unknown significance,\N,synonymous_variant,5.538,0.0000606575,EXAC_SAS_AF,ALMS1
445192,2:73682406:C>T,NM_015120.4:c.7655C>T,NP_055935.4:p.Thr2554Ile,9/23,\N,Unknown significance,\N,missense_variant,32,0.000117069,EXAC_EAS_AF,ALMS1
445193,2:73682412:A>T,NM_015120.4:c.7661A>T,NP_055935.4:p.Asp2556Val,9/23,\N,Unknown significance,\N,missense_variant,29,0.000242807,EXAC_SAS_AF,ALMS1
445194,2:73682416:G>C,NM_015120.4:c.7665G>C,NP_055935.4:p.Leu2557Phe,9/23,\N,Unknown significance,\N,missense_variant,25.3,0.000103327,EXAC_AFR_AF,ALMS1
445195,2:73682416:G>T,NM_015120.4:c.7665G>T,NP_055935.4:p.Leu2557Phe,9/23,\N,Unknown significance,\N,missense_variant,25.5,0.0000150953,EXAC_NFE_AF,ALMS1
445196,2:73682419:C>G,NM_015120.4:c.7668C>G,NP_055935.4:p.Ser2558=,9/23,\N,Unknown significance,\N,synonymous_variant,13.4,0.000117619,EXAC_EAS_AF,ALMS1
445197,2:73682419:C>T,NM_015120.4:c.7668C>T,NP_055935.4:p.Ser2558=,9/23,\N,Unknown significance,\N,synonymous_variant,15.04,0.00112108,EXAC_OTH_AF,ALMS1
445198,2:73682422:G>T,NM_015120.4:c.7671G>T,NP_055935.4:p.Lys2559Asn,9/23,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.4,0.000151699,EXAC_FIN_AF,ALMS1
445199,2:73682427:A>G,NM_015120.4:c.7671+5A>G,\N,\N,9/22,Unknown significance,\N,splice_region_variant&intron_variant,11.22,\N,\N,ALMS1
445200,2:73682435:T>C,NM_015120.4:c.7671+13T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,14.11,0.0000152504,EXAC_NFE_AF,ALMS1
445201,2:73682436:C>T,NM_015120.4:c.7671+14C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,14.24,0.000274273,EVS_AA_AF,ALMS1
445202,2:73682443:T>G,NM_015120.4:c.7671+21T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.29,0.0000459629,EXAC_NFE_AF,ALMS1
445203,2:73682452:T>TG,NM_015120.4:c.7671+30_7671+31insG,\N,\N,9/22,Unknown significance,\N,intron_variant,4.8,\N,\N,ALMS1
445204,2:73682454:A>G,NM_015120.4:c.7671+32A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.277,0.0000154045,EXAC_NFE_AF,ALMS1
445205,2:73682456:T>TA,NM_015120.4:c.7671+35dup,\N,\N,9/22,Unknown significance,\N,intron_variant,6.455,0.0000885897,EXAC_AMR_AF,ALMS1
445206,2:73682460:A>G,NM_015120.4:c.7671+38A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.536,0.0000615157,EXAC_SAS_AF,ALMS1
445207,2:73682470:T>G,NM_015120.4:c.7671+48T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.9,0.000106247,EXAC_AFR_AF,ALMS1
445208,2:73682472:A>G,NM_015120.4:c.7671+50A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.5,0.0000156333,EXAC_NFE_AF,ALMS1
445209,2:73682514:A>C,NM_015120.4:c.7671+92A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.108,\N,\N,ALMS1
445210,2:73682550:T>G,NM_015120.4:c.7671+128T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.2,\N,\N,ALMS1
445211,2:73682552:A>G,NM_015120.4:c.7671+130A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.135,0.004,1KG_EAS_AF,ALMS1
445212,2:73682557:G>T,NM_015120.4:c.7671+135G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.885,0.001,1KG_EAS_AF,ALMS1
445213,2:73682602:G>A,NM_015120.4:c.7671+180G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.006,0.001,1KG_SAS_AF,ALMS1
445214,2:73682612:C>T,NM_015120.4:c.7671+190C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.728,0.0008,1KG_AFR_AF,ALMS1
445215,2:73682629:C>T,NM_015120.4:c.7671+207C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.349,0.001,1KG_EAS_AF,ALMS1
445216,2:73682645:C>T,NM_015120.4:c.7671+223C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.441,0.0008,1KG_AFR_AF,ALMS1
445217,2:73682648:A>G,NM_015120.4:c.7671+226A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.361,\N,\N,ALMS1
445218,2:73682658:G>A,NM_015120.4:c.7671+236G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.288,\N,\N,ALMS1
445219,2:73682664:G>A,NM_015120.4:c.7671+242G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.534,0.0008,1KG_AFR_AF,ALMS1
445220,2:73682683:G>A,NM_015120.4:c.7671+261G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.057,0.002,1KG_SAS_AF,ALMS1
445221,2:73682692:G>A,NM_015120.4:c.7671+270G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.234,0.001,1KG_EAS_AF,ALMS1
445222,2:73682696:A>G,NM_015120.4:c.7671+274A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.57,\N,\N,ALMS1
445223,2:73682752:C>T,NM_015120.4:c.7671+330C>T,\N,\N,9/22,Benign,\N,intron_variant,3.373,0.0061,1KG_SAS_AF,ALMS1
445224,2:73682753:G>A,NM_015120.4:c.7671+331G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.934,\N,\N,ALMS1
445225,2:73682765:G>A,NM_015120.4:c.7671+343G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,7.794,0.001,1KG_EAS_AF,ALMS1
445226,2:73682766:C>T,NM_015120.4:c.7671+344C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.556,\N,\N,ALMS1
445227,2:73682767:G>A,NM_015120.4:c.7671+345G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.62,0.001,1KG_SAS_AF,ALMS1
445228,2:73682773:C>T,NM_015120.4:c.7671+351C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,14.34,\N,\N,ALMS1
445229,2:73682829:A>C,NM_015120.4:c.7671+407A>C,\N,\N,9/22,Benign,\N,intron_variant,0.117,0.0083,1KG_AFR_AF,ALMS1
445230,2:73682858:A>G,NM_015120.4:c.7671+436A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.392,0.0014,1KG_AMR_AF,ALMS1
445231,2:73682862:G>A,NM_015120.4:c.7671+440G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.899,\N,\N,ALMS1
445232,2:73682883:GAT>G,NM_015120.4:c.7671+464_7671+465del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445233,2:73682895:T>G,NM_015120.4:c.7671+473T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.772,\N,\N,ALMS1
445234,2:73682905:C>G,NM_015120.4:c.7671+483C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.085,0.002,1KG_EAS_AF,ALMS1
445235,2:73682928:A>G,NM_015120.4:c.7671+506A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.467,\N,\N,ALMS1
445236,2:73682960:G>C,NM_015120.4:c.7671+538G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.871,\N,\N,ALMS1
445237,2:73682969:A>AT,NM_015120.4:c.7671+557dup,\N,\N,9/22,Benign,\N,intron_variant,0.294,0.1124,1KG_AMR_AF,ALMS1
445238,2:73682969:AT>A,NM_015120.4:c.7671+557del,\N,\N,9/22,Benign,\N,intron_variant,0.384,0.0825,1KG_AFR_AF,ALMS1
445239,2:73683006:C>G,NM_015120.4:c.7671+584C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.006,\N,\N,ALMS1
445240,2:73683023:G>A,NM_015120.4:c.7671+601G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.464,0.0008,1KG_AFR_AF,ALMS1
445241,2:73683050:A>C,NM_015120.4:c.7671+628A>C,\N,\N,9/22,Benign,\N,intron_variant,3.868,0.0182,1KG_AFR_AF,ALMS1
445242,2:73683054:G>T,NM_015120.4:c.7671+632G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.081,\N,\N,ALMS1
445243,2:73683083:A>G,NM_015120.4:c.7671+661A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.797,0.0008,1KG_AFR_AF,ALMS1
445244,2:73683123:A>G,NM_015120.4:c.7671+701A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.418,0.001,1KG_EUR_AF,ALMS1
445245,2:73683125:A>G,NM_015120.4:c.7671+703A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.458,\N,\N,ALMS1
445246,2:73683162:G>A,NM_015120.4:c.7671+740G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.707,0.001,1KG_SAS_AF,ALMS1
445247,2:73683180:T>G,NM_015120.4:c.7671+758T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.511,\N,\N,ALMS1
445248,2:73683292:T>C,NM_015120.4:c.7671+870T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.416,0.0008,1KG_AFR_AF,ALMS1
445249,2:73683344:G>A,NM_015120.4:c.7671+922G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,13.01,0.001,1KG_SAS_AF,ALMS1
445250,2:73683373:A>G,NM_015120.4:c.7671+951A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.459,\N,\N,ALMS1
445251,2:73683415:G>A,NM_015120.4:c.7671+993G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,7.162,\N,\N,ALMS1
445252,2:73683432:A>G,NM_015120.4:c.7671+1010A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.962,\N,\N,ALMS1
445253,2:73683441:T>G,NM_015120.4:c.7671+1019T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.426,\N,\N,ALMS1
445254,2:73683460:C>G,NM_015120.4:c.7671+1038C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.085,0.0008,1KG_AFR_AF,ALMS1
445255,2:73683515:C>A,NM_015120.4:c.7671+1093C>A,\N,\N,9/22,Benign,\N,intron_variant,4.014,0.1744,1KG_AMR_AF,ALMS1
445256,2:73683555:A>G,NM_015120.4:c.7671+1133A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.799,0.001,1KG_EUR_AF,ALMS1
445257,2:73683574:C>T,NM_015120.4:c.7671+1152C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.232,0.0008,1KG_AFR_AF,ALMS1
445258,2:73683601:G>A,NM_015120.4:c.7671+1179G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,18.98,0.0008,1KG_AFR_AF,ALMS1
445259,2:73683607:A>C,NM_015120.4:c.7671+1185A>C,\N,\N,9/22,Benign,\N,intron_variant,19.23,0.0219,1KG_AFR_AF,ALMS1
445260,2:73683631:C>T,NM_015120.4:c.7671+1209C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.572,0.0043,1KG_AMR_AF,ALMS1
445261,2:73683632:G>A,NM_015120.4:c.7671+1210G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.332,\N,\N,ALMS1
445262,2:73683655:G>A,NM_015120.4:c.7671+1233G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.427,0.001,1KG_SAS_AF,ALMS1
445263,2:73683688:T>C,NM_015120.4:c.7671+1266T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.87,\N,\N,ALMS1
445264,2:73683702:T>C,NM_015120.4:c.7671+1280T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.596,\N,\N,ALMS1
445265,2:73683705:C>G,NM_015120.4:c.7671+1283C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.748,0.001,1KG_EAS_AF,ALMS1
445266,2:73683716:G>A,NM_015120.4:c.7671+1294G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,7.729,\N,\N,ALMS1
445267,2:73683740:A>C,NM_015120.4:c.7671+1318A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.629,\N,\N,ALMS1
445268,2:73683751:A>G,NM_015120.4:c.7671+1329A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.751,\N,\N,ALMS1
445269,2:73683771:T>C,NM_015120.4:c.7671+1349T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.312,\N,\N,ALMS1
445270,2:73683772:A>G,NM_015120.4:c.7671+1350A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.78,0.001,1KG_EUR_AF,ALMS1
445271,2:73683841:C>T,NM_015120.4:c.7671+1419C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.68,\N,\N,ALMS1
445272,2:73683842:G>A,NM_015120.4:c.7671+1420G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.991,0.001,1KG_EAS_AF,ALMS1
445273,2:73683894:G>A,NM_015120.4:c.7671+1472G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.822,0.001,1KG_SAS_AF,ALMS1
445274,2:73683904:G>T,NM_015120.4:c.7671+1482G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.117,0.001,1KG_EUR_AF,ALMS1
445275,2:73683945:A>G,NM_015120.4:c.7671+1523A>G,\N,\N,9/22,Benign,\N,intron_variant,0.737,0.1241,1KG_AFR_AF,ALMS1
445276,2:73683973:T>C,NM_015120.4:c.7671+1551T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.355,0.0014,1KG_AMR_AF,ALMS1
445277,2:73683997:C>T,NM_015120.4:c.7671+1575C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.325,0.0008,1KG_AFR_AF,ALMS1
445278,2:73684024:G>A,NM_015120.4:c.7671+1602G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.578,0.001,1KG_EUR_AF,ALMS1
445279,2:73684038:ATCCCTCAGCAAGCAAGTTGCCT>A,NM_015120.4:c.7671+1620_7671+1641del,\N,\N,9/22,Unknown significance,\N,intron_variant,7.14,\N,\N,ALMS1
445280,2:73684120:A>T,NM_015120.4:c.7671+1698A>T,\N,\N,9/22,Benign,\N,intron_variant,11.4,0.0102,1KG_SAS_AF,ALMS1
445281,2:73684130:A>G,NM_015120.4:c.7671+1708A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.571,0.001,1KG_SAS_AF,ALMS1
445282,2:73684211:C>G,NM_015120.4:c.7671+1789C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.305,\N,\N,ALMS1
445283,2:73684219:T>C,NM_015120.4:c.7671+1797T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.533,\N,\N,ALMS1
445284,2:73684252:A>G,NM_015120.4:c.7671+1830A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.436,0.0008,1KG_AFR_AF,ALMS1
445285,2:73684268:G>A,NM_015120.4:c.7671+1846G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.458,\N,\N,ALMS1
445286,2:73684295:C>CA,NM_015120.4:c.7671+1878dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445287,2:73684330:C>A,NM_015120.4:c.7671+1908C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.518,\N,\N,ALMS1
445288,2:73684337:T>G,NM_015120.4:c.7671+1915T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.012,\N,\N,ALMS1
445289,2:73684340:A>G,NM_015120.4:c.7671+1918A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.267,0.0014,1KG_AMR_AF,ALMS1
445290,2:73684358:T>A,NM_015120.4:c.7671+1936T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.069,0.0008,1KG_AFR_AF,ALMS1
445291,2:73684359:A>T,NM_015120.4:c.7671+1937A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.023,0.0014,1KG_AMR_AF,ALMS1
445292,2:73684363:ATCT>A,NM_015120.4:c.7671+1946_7671+1948del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445293,2:73684448:T>A,NM_015120.4:c.7671+2026T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.327,0.0008,1KG_AFR_AF,ALMS1
445294,2:73684483:C>T,NM_015120.4:c.7671+2061C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.277,\N,\N,ALMS1
445295,2:73684484:G>A,NM_015120.4:c.7671+2062G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.625,\N,\N,ALMS1
445296,2:73684541:T>C,NM_015120.4:c.7671+2119T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.128,\N,\N,ALMS1
445297,2:73684577:C>A,NM_015120.4:c.7671+2155C>A,\N,\N,9/22,Benign,\N,intron_variant,4.537,0.0779,1KG_AFR_AF,ALMS1
445298,2:73684589:T>C,NM_015120.4:c.7671+2167T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.466,\N,\N,ALMS1
445299,2:73684592:A>G,NM_015120.4:c.7671+2170A>G,\N,\N,9/22,Benign,\N,intron_variant,4.083,0.0873,1KG_EAS_AF,ALMS1
445300,2:73684597:T>C,NM_015120.4:c.7671+2175T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.638,0.0014,1KG_AMR_AF,ALMS1
445301,2:73684600:C>A,NM_015120.4:c.7671+2178C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.534,0.0008,1KG_AFR_AF,ALMS1
445302,2:73684612:C>T,NM_015120.4:c.7671+2190C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.416,\N,\N,ALMS1
445303,2:73684622:G>A,NM_015120.4:c.7671+2200G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.106,0.001,1KG_SAS_AF,ALMS1
445304,2:73684625:C>T,NM_015120.4:c.7671+2203C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.183,0.001,1KG_EAS_AF,ALMS1
445305,2:73684655:C>T,NM_015120.4:c.7671+2233C>T,\N,\N,9/22,Benign,\N,intron_variant,2.259,0.0184,1KG_SAS_AF,ALMS1
445306,2:73684661:G>A,NM_015120.4:c.7671+2239G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.569,0.0008,1KG_AFR_AF,ALMS1
445307,2:73684695:C>A,NM_015120.4:c.7671+2273C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.327,0.0008,1KG_AFR_AF,ALMS1
445308,2:73684698:T>C,NM_015120.4:c.7671+2276T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.264,\N,\N,ALMS1
445309,2:73684715:A>G,NM_015120.4:c.7671+2293A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.946,0.001,1KG_EUR_AF,ALMS1
445310,2:73684719:T>C,NM_015120.4:c.7671+2297T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.925,\N,\N,ALMS1
445311,2:73684728:A>G,NM_015120.4:c.7671+2306A>G,\N,\N,9/22,Benign,\N,intron_variant,5.313,0.013,1KG_AMR_AF,ALMS1
445312,2:73684729:T>C,NM_015120.4:c.7671+2307T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.45,\N,\N,ALMS1
445313,2:73684754:A>T,NM_015120.4:c.7671+2332A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.621,0.0008,1KG_AFR_AF,ALMS1
445314,2:73684825:A>G,NM_015120.4:c.7671+2403A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.963,0.0008,1KG_AFR_AF,ALMS1
445315,2:73684876:T>C,NM_015120.4:c.7671+2454T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.667,0.001,1KG_EAS_AF,ALMS1
445316,2:73684885:C>T,NM_015120.4:c.7671+2463C>T,\N,\N,9/22,Benign,\N,intron_variant,0.456,0.006,1KG_EAS_AF,ALMS1
445317,2:73684887:C>T,NM_015120.4:c.7671+2465C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.032,\N,\N,ALMS1
445318,2:73684932:G>C,NM_015120.4:c.7671+2510G>C,\N,\N,9/22,Benign,\N,intron_variant,0.396,0.1384,1KG_AFR_AF,ALMS1
445319,2:73684937:A>T,NM_015120.4:c.7671+2515A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.189,0.002,1KG_EAS_AF,ALMS1
445320,2:73684957:C>T,NM_015120.4:c.7671+2535C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.446,0.004,1KG_EUR_AF,ALMS1
445321,2:73684965:G>T,NM_015120.4:c.7671+2543G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.216,0.001,1KG_SAS_AF,ALMS1
445322,2:73684989:G>A,NM_015120.4:c.7671+2567G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.398,0.0008,1KG_AFR_AF,ALMS1
445323,2:73684990:T>A,NM_015120.4:c.7671+2568T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.009,0.002,1KG_EAS_AF,ALMS1
445324,2:73685010:A>G,NM_015120.4:c.7671+2588A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.224,0.001,1KG_EUR_AF,ALMS1
445325,2:73685033:G>T,NM_015120.4:c.7671+2611G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.143,\N,\N,ALMS1
445326,2:73685047:C>G,NM_015120.4:c.7671+2625C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.516,\N,\N,ALMS1
445327,2:73685099:G>T,NM_015120.4:c.7671+2677G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.384,0.001,1KG_EAS_AF,ALMS1
445328,2:73685108:C>T,NM_015120.4:c.7671+2686C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.511,\N,\N,ALMS1
445329,2:73685160:C>CAAAAA,NM_015120.4:c.7671+2754_7671+2758dup,\N,\N,9/22,Unknown significance,\N,intron_variant,4.637,\N,\N,ALMS1
445330,2:73685180:A>AAAAAG,NM_015120.4:c.7671+2758_7671+2759insAAAAG,\N,\N,9/22,Unknown significance,\N,intron_variant,0.08,\N,\N,ALMS1
445331,2:73685183:T>G,NM_015120.4:c.7671+2761T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.483,\N,\N,ALMS1
445332,2:73685277:A>C,NM_015120.4:c.7671+2855A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.082,\N,\N,ALMS1
445333,2:73685277:A>G,NM_015120.4:c.7671+2855A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.36,0.0008,1KG_AFR_AF,ALMS1
445334,2:73685307:C>T,NM_015120.4:c.7671+2885C>T,\N,\N,9/22,Benign,\N,intron_variant,7.522,0.0197,1KG_AFR_AF,ALMS1
445335,2:73685320:G>C,NM_015120.4:c.7671+2898G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.343,\N,\N,ALMS1
445336,2:73685326:A>G,NM_015120.4:c.7671+2904A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.187,\N,\N,ALMS1
445337,2:73685353:T>C,NM_015120.4:c.7671+2931T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.33,0.0014,1KG_AMR_AF,ALMS1
445338,2:73685393:A>G,NM_015120.4:c.7671+2971A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.512,0.004,1KG_EUR_AF,ALMS1
445339,2:73685397:T>G,NM_015120.4:c.7671+2975T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.835,0.003,1KG_EAS_AF,ALMS1
445340,2:73685452:T>C,NM_015120.4:c.7671+3030T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.07,\N,\N,ALMS1
445341,2:73685459:T>C,NM_015120.4:c.7671+3037T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.239,0.001,1KG_SAS_AF,ALMS1
445342,2:73685464:T>C,NM_015120.4:c.7671+3042T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.346,0.002,1KG_SAS_AF,ALMS1
445343,2:73685474:A>G,NM_015120.4:c.7671+3052A>G,\N,\N,9/22,Benign,\N,intron_variant,1.319,0.0092,1KG_SAS_AF,ALMS1
445344,2:73685487:C>T,NM_015120.4:c.7671+3065C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.712,0.0023,1KG_AFR_AF,ALMS1
445345,2:73685550:C>T,NM_015120.4:c.7671+3128C>T,\N,\N,9/22,Benign,\N,intron_variant,2.67,0.0109,1KG_EAS_AF,ALMS1
445346,2:73685560:A>G,NM_015120.4:c.7671+3138A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.776,0.002,1KG_SAS_AF,ALMS1
445347,2:73685582:A>G,NM_015120.4:c.7671+3160A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.066,0.0014,1KG_AMR_AF,ALMS1
445348,2:73685593:T>C,NM_015120.4:c.7671+3171T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,11.19,\N,\N,ALMS1
445349,2:73685707:T>A,NM_015120.4:c.7671+3285T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.839,\N,\N,ALMS1
445350,2:73685721:C>T,NM_015120.4:c.7671+3299C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.719,\N,\N,ALMS1
445351,2:73685735:A>G,NM_015120.4:c.7671+3313A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.536,0.0008,1KG_AFR_AF,ALMS1
445352,2:73685750:T>A,NM_015120.4:c.7671+3328T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.826,0.001,1KG_SAS_AF,ALMS1
445353,2:73685785:CAA>C,NM_015120.4:c.7671+3364_7671+3365del,\N,\N,9/22,Unknown significance,\N,intron_variant,9.789,0.0023,1KG_AFR_AF,ALMS1
445354,2:73685800:C>T,NM_015120.4:c.7671+3378C>T,\N,\N,9/22,Benign,\N,intron_variant,10.41,0.0298,1KG_EUR_AF,ALMS1
445355,2:73685810:A>G,NM_015120.4:c.7671+3388A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.25,\N,\N,ALMS1
445356,2:73685824:T>C,NM_015120.4:c.7671+3402T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.158,\N,\N,ALMS1
445357,2:73685834:T>A,NM_015120.4:c.7671+3412T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.52,0.001,1KG_EAS_AF,ALMS1
445358,2:73685835:G>A,NM_015120.4:c.7671+3413G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.828,\N,\N,ALMS1
445359,2:73685835:G>T,NM_015120.4:c.7671+3413G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.425,0.0008,1KG_AFR_AF,ALMS1
445360,2:73685837:G>A,NM_015120.4:c.7671+3415G>A,\N,\N,9/22,Benign,\N,intron_variant,8.901,0.1339,1KG_AFR_AF,ALMS1
445361,2:73685839:G>A,NM_015120.4:c.7671+3417G>A,\N,\N,9/22,Benign,\N,intron_variant,9.353,0.0068,1KG_AFR_AF,ALMS1
445362,2:73685852:G>A,NM_015120.4:c.7671+3430G>A,\N,\N,9/22,Benign,\N,intron_variant,9.658,0.7847,1KG_EAS_AF,ALMS1
445363,2:73685887:A>T,NM_015120.4:c.7671+3465A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.159,0.0015,1KG_AFR_AF,ALMS1
445364,2:73685894:G>C,NM_015120.4:c.7671+3472G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,5.376,0.001,1KG_EAS_AF,ALMS1
445365,2:73685905:A>G,NM_015120.4:c.7671+3483A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.396,0.002,1KG_EUR_AF,ALMS1
445366,2:73685916:T>C,NM_015120.4:c.7671+3494T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.671,0.0008,1KG_AFR_AF,ALMS1
445367,2:73685939:C>T,NM_015120.4:c.7671+3517C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.801,0.0008,1KG_AFR_AF,ALMS1
445368,2:73685940:G>A,NM_015120.4:c.7671+3518G>A,\N,\N,9/22,Benign,\N,intron_variant,8.169,0.0166,1KG_AFR_AF,ALMS1
445369,2:73685953:C>T,NM_015120.4:c.7671+3531C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.735,\N,\N,ALMS1
445370,2:73685965:T>G,NM_015120.4:c.7671+3543T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.65,\N,\N,ALMS1
445371,2:73685999:T>C,NM_015120.4:c.7671+3577T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.055,\N,\N,ALMS1
445372,2:73686008:T>C,NM_015120.4:c.7671+3586T>C,\N,\N,9/22,Benign,\N,intron_variant,10.14,0.1354,1KG_AMR_AF,ALMS1
445373,2:73686100:C>G,NM_015120.4:c.7671+3678C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.37,\N,\N,ALMS1
445374,2:73686194:A>T,NM_015120.4:c.7671+3772A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.77,\N,\N,ALMS1
445375,2:73686194:AT>A,NM_015120.4:c.7671+3782del,\N,\N,9/22,Unknown significance,\N,intron_variant,5.104,0.0038,1KG_AFR_AF,ALMS1
445376,2:73686227:TTTTC>T,NM_015120.4:c.7671+3814_7671+3817del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445377,2:73686241:T>C,NM_015120.4:c.7671+3819T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.695,0.0008,1KG_AFR_AF,ALMS1
445378,2:73686248:C>G,NM_015120.4:c.7671+3826C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.826,\N,\N,ALMS1
445379,2:73686272:T>G,NM_015120.4:c.7671+3850T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.935,0.0008,1KG_AFR_AF,ALMS1
445380,2:73686396:A>T,NM_015120.4:c.7671+3974A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.786,\N,\N,ALMS1
445381,2:73686423:G>A,NM_015120.4:c.7671+4001G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.04,\N,\N,ALMS1
445382,2:73686427:A>C,NM_015120.4:c.7671+4005A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.941,0.001,1KG_SAS_AF,ALMS1
445383,2:73686435:C>T,NM_015120.4:c.7671+4013C>T,\N,\N,9/22,Benign,\N,intron_variant,9.987,0.028,1KG_AFR_AF,ALMS1
445384,2:73686456:G>C,NM_015120.4:c.7671+4034G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.482,0.0008,1KG_AFR_AF,ALMS1
445385,2:73686475:A>C,NM_015120.4:c.7671+4053A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.561,0.001,1KG_EAS_AF,ALMS1
445386,2:73686482:T>A,NM_015120.4:c.7671+4060T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,12.48,0.001,1KG_EAS_AF,ALMS1
445387,2:73686521:C>T,NM_015120.4:c.7671+4099C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.055,0.0008,1KG_AFR_AF,ALMS1
445388,2:73686532:T>C,NM_015120.4:c.7671+4110T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.971,\N,\N,ALMS1
445389,2:73686542:G>T,NM_015120.4:c.7671+4120G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.801,\N,\N,ALMS1
445390,2:73686567:T>C,NM_015120.4:c.7671+4145T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.955,0.0008,1KG_AFR_AF,ALMS1
445391,2:73686583:T>A,NM_015120.4:c.7671+4161T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.64,\N,\N,ALMS1
445392,2:73686599:A>G,NM_015120.4:c.7671+4177A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.436,0.001,1KG_EUR_AF,ALMS1
445393,2:73686600:T>C,NM_015120.4:c.7671+4178T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.683,\N,\N,ALMS1
445394,2:73686617:A>G,NM_015120.4:c.7671+4195A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.171,\N,\N,ALMS1
445395,2:73686627:C>T,NM_015120.4:c.7671+4205C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.531,0.002,1KG_EAS_AF,ALMS1
445396,2:73686633:A>G,NM_015120.4:c.7671+4211A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.263,0.0014,1KG_AMR_AF,ALMS1
445397,2:73686634:T>A,NM_015120.4:c.7671+4212T>A,\N,\N,9/22,Benign,\N,intron_variant,7.706,0.0711,1KG_AFR_AF,ALMS1
445398,2:73686710:G>A,NM_015120.4:c.7671+4288G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.35,0.001,1KG_SAS_AF,ALMS1
445399,2:73686717:C>T,NM_015120.4:c.7671+4295C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.09,0.0008,1KG_AFR_AF,ALMS1
445400,2:73686730:C>A,NM_015120.4:c.7671+4308C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.356,0.0015,1KG_AFR_AF,ALMS1
445401,2:73686761:A>G,NM_015120.4:c.7671+4339A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.47,\N,\N,ALMS1
445402,2:73686774:C>T,NM_015120.4:c.7671+4352C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.944,0.0008,1KG_AFR_AF,ALMS1
445403,2:73686798:C>A,NM_015120.4:c.7671+4376C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.587,\N,\N,ALMS1
445404,2:73686851:T>C,NM_015120.4:c.7671+4429T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.612,0.0008,1KG_AFR_AF,ALMS1
445405,2:73686901:C>T,NM_015120.4:c.7671+4479C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.072,\N,\N,ALMS1
445406,2:73686930:G>A,NM_015120.4:c.7671+4508G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.346,\N,\N,ALMS1
445407,2:73686950:A>G,NM_015120.4:c.7671+4528A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.126,0.001,1KG_SAS_AF,ALMS1
445408,2:73686951:G>A,NM_015120.4:c.7671+4529G>A,\N,\N,9/22,Benign,\N,intron_variant,0.195,0.0666,1KG_AFR_AF,ALMS1
445409,2:73686958:G>A,NM_015120.4:c.7671+4536G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.023,0.0014,1KG_AMR_AF,ALMS1
445410,2:73687025:T>C,NM_015120.4:c.7671+4603T>C,\N,\N,9/22,Benign,\N,intron_variant,2.815,0.0703,1KG_AFR_AF,ALMS1
445411,2:73687034:A>T,NM_015120.4:c.7671+4612A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.052,0.001,1KG_EAS_AF,ALMS1
445412,2:73687041:G>T,NM_015120.4:c.7671+4619G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.049,0.001,1KG_EAS_AF,ALMS1
445413,2:73687053:A>G,NM_015120.4:c.7671+4631A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.255,0.001,1KG_SAS_AF,ALMS1
445414,2:73687054:C>T,NM_015120.4:c.7671+4632C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.897,\N,\N,ALMS1
445415,2:73687056:C>T,NM_015120.4:c.7671+4634C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.4,\N,\N,ALMS1
445416,2:73687064:C>T,NM_015120.4:c.7671+4642C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.341,\N,\N,ALMS1
445417,2:73687077:G>T,NM_015120.4:c.7671+4655G>T,\N,\N,9/22,Benign,\N,intron_variant,1.8,0.8767,1KG_AFR_AF,ALMS1
445418,2:73687082:G>A,NM_015120.4:c.7671+4660G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.088,0.002,1KG_EAS_AF,ALMS1
445419,2:73687094:A>G,NM_015120.4:c.7671+4672A>G,\N,\N,9/22,Benign,\N,intron_variant,5.415,0.0182,1KG_AFR_AF,ALMS1
445420,2:73687120:G>C,NM_015120.4:c.7671+4698G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.26,0.0015,1KG_AFR_AF,ALMS1
445421,2:73687125:T>G,NM_015120.4:c.7671+4703T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.051,0.0008,1KG_AFR_AF,ALMS1
445422,2:73687144:C>G,NM_015120.4:c.7671+4722C>G,\N,\N,9/22,Benign,\N,intron_variant,3.66,0.0666,1KG_AFR_AF,ALMS1
445423,2:73687147:T>C,NM_015120.4:c.7671+4725T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.712,0.0023,1KG_AFR_AF,ALMS1
445424,2:73687149:C>T,NM_015120.4:c.7671+4727C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.481,0.0008,1KG_AFR_AF,ALMS1
445425,2:73687153:T>C,NM_015120.4:c.7671+4731T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.795,\N,\N,ALMS1
445426,2:73687162:G>T,NM_015120.4:c.7671+4740G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.842,\N,\N,ALMS1
445427,2:73687199:C>G,NM_015120.4:c.7671+4777C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.197,0.0015,1KG_AFR_AF,ALMS1
445428,2:73687232:T>C,NM_015120.4:c.7671+4810T>C,\N,\N,9/22,Benign,\N,intron_variant,8.156,0.0109,1KG_EAS_AF,ALMS1
445429,2:73687261:C>T,NM_015120.4:c.7671+4839C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.783,0.001,1KG_SAS_AF,ALMS1
445430,2:73687268:A>G,NM_015120.4:c.7671+4846A>G,\N,\N,9/22,Benign,\N,intron_variant,3.208,0.0673,1KG_AFR_AF,ALMS1
445431,2:73687292:T>C,NM_015120.4:c.7671+4870T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.847,0.001,1KG_EAS_AF|1KG_EUR_AF,ALMS1
445432,2:73687313:G>A,NM_015120.4:c.7671+4891G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.546,\N,\N,ALMS1
445433,2:73687325:C>T,NM_015120.4:c.7671+4903C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,13.74,0.002,1KG_SAS_AF,ALMS1
445434,2:73687329:C>G,NM_015120.4:c.7671+4907C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.37,0.001,1KG_SAS_AF,ALMS1
445435,2:73687331:C>G,NM_015120.4:c.7671+4909C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,11.36,\N,\N,ALMS1
445436,2:73687340:C>T,NM_015120.4:c.7671+4918C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.66,\N,\N,ALMS1
445437,2:73687400:T>C,NM_015120.4:c.7671+4978T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.625,0.0015,1KG_AFR_AF,ALMS1
445438,2:73687404:A>G,NM_015120.4:c.7671+4982A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.271,\N,\N,ALMS1
445439,2:73687409:G>A,NM_015120.4:c.7671+4987G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.87,\N,\N,ALMS1
445440,2:73687459:G>T,NM_015120.4:c.7671+5037G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.166,\N,\N,ALMS1
445441,2:73687497:G>T,NM_015120.4:c.7671+5075G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.641,\N,\N,ALMS1
445442,2:73687514:TT>AG,NM_015120.4:c.7671+5092_7671+5093delinsAG,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445443,2:73687523:T>G,NM_015120.4:c.7671+5101T>G,\N,\N,9/22,Benign,\N,intron_variant,0.212,0.0363,1KG_AFR_AF,ALMS1
445444,2:73687543:T>C,NM_015120.4:c.7671+5121T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.288,\N,\N,ALMS1
445445,2:73687581:C>A,NM_015120.4:c.7671+5159C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.443,\N,\N,ALMS1
445446,2:73687582:G>C,NM_015120.4:c.7671+5160G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.2,\N,\N,ALMS1
445447,2:73687592:A>C,NM_015120.4:c.7671+5170A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.372,\N,\N,ALMS1
445448,2:73687592:A>T,NM_015120.4:c.7671+5170A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.684,\N,\N,ALMS1
445449,2:73687609:A>G,NM_015120.4:c.7671+5187A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.51,\N,\N,ALMS1
445450,2:73687610:C>G,NM_015120.4:c.7671+5188C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.058,\N,\N,ALMS1
445451,2:73687617:G>A,NM_015120.4:c.7671+5195G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.175,0.002,1KG_SAS_AF,ALMS1
445452,2:73687633:T>C,NM_015120.4:c.7671+5211T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.74,0.001,1KG_EAS_AF,ALMS1
445453,2:73687642:C>T,NM_015120.4:c.7671+5220C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.397,0.0008,1KG_AFR_AF,ALMS1
445454,2:73687643:G>A,NM_015120.4:c.7671+5221G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.235,0.001,1KG_SAS_AF,ALMS1
445455,2:73687682:C>T,NM_015120.4:c.7671+5260C>T,\N,\N,9/22,Benign,\N,intron_variant,1.56,0.0076,1KG_AFR_AF,ALMS1
445456,2:73687683:G>A,NM_015120.4:c.7671+5261G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.115,0.0015,1KG_AFR_AF,ALMS1
445457,2:73687685:G>C,NM_015120.4:c.7671+5263G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.177,0.002,1KG_SAS_AF,ALMS1
445458,2:73687686:T>A,NM_015120.4:c.7671+5264T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.536,0.001,1KG_EAS_AF,ALMS1
445459,2:73687689:A>T,NM_015120.4:c.7671+5267A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.679,0.0008,1KG_AFR_AF,ALMS1
445460,2:73687708:G>C,NM_015120.4:c.7671+5286G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.263,0.0014,1KG_AMR_AF,ALMS1
445461,2:73687736:C>T,NM_015120.4:c.7671+5314C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.459,0.002,1KG_EAS_AF,ALMS1
445462,2:73687752:C>T,NM_015120.4:c.7671+5330C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.788,0.0043,1KG_AMR_AF,ALMS1
445463,2:73687762:C>T,NM_015120.4:c.7671+5340C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.813,0.0014,1KG_AMR_AF,ALMS1
445464,2:73687794:G>T,NM_015120.4:c.7671+5372G>T,\N,\N,9/22,Benign,\N,intron_variant,0.356,0.7847,1KG_EAS_AF,ALMS1
445465,2:73687837:G>A,NM_015120.4:c.7671+5415G>A,\N,\N,9/22,Benign,\N,intron_variant,1.324,0.008,1KG_EUR_AF,ALMS1
445466,2:73687865:A>G,NM_015120.4:c.7671+5443A>G,\N,\N,9/22,Benign,\N,intron_variant,0.805,0.7867,1KG_EAS_AF,ALMS1
445467,2:73687908:A>G,NM_015120.4:c.7671+5486A>G,\N,\N,9/22,Benign,\N,intron_variant,0.691,0.0249,1KG_EUR_AF,ALMS1
445468,2:73687921:C>A,NM_015120.4:c.7671+5499C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.996,0.003,1KG_EUR_AF,ALMS1
445469,2:73687922:C>G,NM_015120.4:c.7671+5500C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.853,0.002,1KG_SAS_AF,ALMS1
445470,2:73687928:T>G,NM_015120.4:c.7671+5506T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.364,\N,\N,ALMS1
445471,2:73687933:C>T,NM_015120.4:c.7671+5511C>T,\N,\N,9/22,Benign,\N,intron_variant,2.993,0.0061,1KG_SAS_AF,ALMS1
445472,2:73687934:G>A,NM_015120.4:c.7671+5512G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.473,0.0015,1KG_AFR_AF,ALMS1
445473,2:73687944:A>G,NM_015120.4:c.7671+5522A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.092,0.0008,1KG_AFR_AF,ALMS1
445474,2:73687945:C>T,NM_015120.4:c.7671+5523C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.117,0.001,1KG_SAS_AF,ALMS1
445475,2:73687959:C>T,NM_015120.4:c.7671+5537C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.508,0.0008,1KG_AFR_AF,ALMS1
445476,2:73687978:A>T,NM_015120.4:c.7671+5556A>T,\N,\N,9/22,Benign,\N,intron_variant,0.444,0.006,1KG_EUR_AF,ALMS1
445477,2:73688014:G>A,NM_015120.4:c.7671+5592G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.855,0.0023,1KG_AFR_AF,ALMS1
445478,2:73688018:A>G,NM_015120.4:c.7671+5596A>G,\N,\N,9/22,Benign,\N,intron_variant,1.033,0.0877,1KG_AFR_AF,ALMS1
445479,2:73688020:G>C,NM_015120.4:c.7671+5598G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.179,0.001,1KG_EAS_AF,ALMS1
445480,2:73688024:G>A,NM_015120.4:c.7671+5602G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.912,0.001,1KG_EUR_AF,ALMS1
445481,2:73688030:C>T,NM_015120.4:c.7671+5608C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.998,\N,\N,ALMS1
445482,2:73688073:C>G,NM_015120.4:c.7671+5651C>G,\N,\N,9/22,Benign,\N,intron_variant,1.307,0.0393,1KG_AFR_AF,ALMS1
445483,2:73688074:G>A,NM_015120.4:c.7671+5652G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.578,0.002,1KG_EAS_AF,ALMS1
445484,2:73688092:T>C,NM_015120.4:c.7671+5670T>C,\N,\N,9/22,Benign,\N,intron_variant,0.491,0.999,1KG_EAS_AF,ALMS1
445485,2:73688111:C>T,NM_015120.4:c.7671+5689C>T,\N,\N,9/22,Benign,\N,intron_variant,1.989,0.0688,1KG_AFR_AF,ALMS1
445486,2:73688145:C>T,NM_015120.4:c.7671+5723C>T,\N,\N,9/22,Benign,\N,intron_variant,1.604,0.0139,1KG_EUR_AF,ALMS1
445487,2:73688177:T>C,NM_015120.4:c.7671+5755T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.573,0.0014,1KG_AMR_AF,ALMS1
445488,2:73688191:C>T,NM_015120.4:c.7671+5769C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.355,0.001,1KG_SAS_AF,ALMS1
445489,2:73688213:A>G,NM_015120.4:c.7671+5791A>G,\N,\N,9/22,Benign,\N,intron_variant,0.23,0.0072,1KG_SAS_AF,ALMS1
445490,2:73688214:G>A,NM_015120.4:c.7671+5792G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.62,0.001,1KG_EUR_AF,ALMS1
445491,2:73688217:G>C,NM_015120.4:c.7671+5795G>C,\N,\N,9/22,Benign,\N,intron_variant,0.115,0.0545,1KG_AFR_AF,ALMS1
445492,2:73688233:G>A,NM_015120.4:c.7671+5811G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.903,0.0014,1KG_AMR_AF,ALMS1
445493,2:73688255:G>A,NM_015120.4:c.7671+5833G>A,\N,\N,9/22,Benign,\N,intron_variant,0.655,0.0051,1KG_SAS_AF,ALMS1
445494,2:73688278:C>T,NM_015120.4:c.7671+5856C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.516,0.001,1KG_EUR_AF,ALMS1
445495,2:73688280:C>G,NM_015120.4:c.7671+5858C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.545,0.0008,1KG_AFR_AF,ALMS1
445496,2:73688284:C>A,NM_015120.4:c.7671+5862C>A,\N,\N,9/22,Benign,\N,intron_variant,1.607,0.0439,1KG_AFR_AF,ALMS1
445497,2:73688292:C>T,NM_015120.4:c.7671+5870C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.228,0.001,1KG_EUR_AF,ALMS1
445498,2:73688301:T>A,NM_015120.4:c.7671+5879T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.173,0.0008,1KG_AFR_AF,ALMS1
445499,2:73688310:C>A,NM_015120.4:c.7671+5888C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.291,0.001,1KG_EAS_AF,ALMS1
445500,2:73688318:G>C,NM_015120.4:c.7671+5896G>C,\N,\N,9/22,Benign,\N,intron_variant,0.123,0.7867,1KG_EAS_AF,ALMS1
445501,2:73688343:A>G,NM_015120.4:c.7671+5921A>G,\N,\N,9/22,Benign,\N,intron_variant,2.544,0.9294,1KG_AMR_AF,ALMS1
445502,2:73688346:G>A,NM_015120.4:c.7671+5924G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.774,\N,\N,ALMS1
445503,2:73688350:A>G,NM_015120.4:c.7671+5928A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.077,\N,\N,ALMS1
445504,2:73688372:A>G,NM_015120.4:c.7671+5950A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.126,0.0014,1KG_AMR_AF,ALMS1
445505,2:73688384:A>C,NM_015120.4:c.7671+5962A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.429,\N,\N,ALMS1
445506,2:73688384:A>G,NM_015120.4:c.7671+5962A>G,\N,\N,9/22,Benign,\N,intron_variant,1.076,0.6044,1KG_AFR_AF,ALMS1
445507,2:73688409:A>G,NM_015120.4:c.7671+5987A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.07,0.0041,1KG_SAS_AF,ALMS1
445508,2:73688415:G>A,NM_015120.4:c.7671+5993G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.842,0.001,1KG_SAS_AF,ALMS1
445509,2:73688443:G>A,NM_015120.4:c.7671+6021G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.011,\N,\N,ALMS1
445510,2:73688447:C>T,NM_015120.4:c.7671+6025C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.629,0.0015,1KG_AFR_AF,ALMS1
445511,2:73688448:C>T,NM_015120.4:c.7671+6026C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.292,0.0014,1KG_AMR_AF,ALMS1
445512,2:73688449:G>A,NM_015120.4:c.7671+6027G>A,\N,\N,9/22,Benign,\N,intron_variant,0.843,0.0371,1KG_AFR_AF,ALMS1
445513,2:73688460:C>A,NM_015120.4:c.7671+6038C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.084,0.001,1KG_SAS_AF,ALMS1
445514,2:73688482:G>A,NM_015120.4:c.7671+6060G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.037,0.001,1KG_SAS_AF,ALMS1
445515,2:73688508:C>G,NM_015120.4:c.7671+6086C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.55,0.0014,1KG_AMR_AF,ALMS1
445516,2:73688510:G>A,NM_015120.4:c.7671+6088G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.858,\N,\N,ALMS1
445517,2:73688519:G>A,NM_015120.4:c.7671+6097G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.359,\N,\N,ALMS1
445518,2:73688526:T>C,NM_015120.4:c.7671+6104T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.458,\N,\N,ALMS1
445519,2:73688565:C>T,NM_015120.4:c.7671+6143C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.113,\N,\N,ALMS1
445520,2:73688585:G>A,NM_015120.4:c.7671+6163G>A,\N,\N,9/22,Benign,\N,intron_variant,0.969,0.0069,1KG_EAS_AF,ALMS1
445521,2:73688593:C>A,NM_015120.4:c.7671+6171C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.263,\N,\N,ALMS1
445522,2:73688594:A>T,NM_015120.4:c.7671+6172A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.454,0.0015,1KG_AFR_AF,ALMS1
445523,2:73688607:G>A,NM_015120.4:c.7671+6185G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.47,\N,\N,ALMS1
445524,2:73688621:C>T,NM_015120.4:c.7671+6199C>T,\N,\N,9/22,Benign,\N,intron_variant,1.2,0.0461,1KG_AFR_AF,ALMS1
445525,2:73688629:C>G,NM_015120.4:c.7671+6207C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.542,\N,\N,ALMS1
445526,2:73688630:A>G,NM_015120.4:c.7671+6208A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.183,\N,\N,ALMS1
445527,2:73688643:C>T,NM_015120.4:c.7671+6221C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.276,\N,\N,ALMS1
445528,2:73688657:A>C,NM_015120.4:c.7671+6235A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.181,\N,\N,ALMS1
445529,2:73688673:C>T,NM_015120.4:c.7671+6251C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.117,\N,\N,ALMS1
445530,2:73688674:G>A,NM_015120.4:c.7671+6252G>A,\N,\N,9/22,Benign,\N,intron_variant,0.803,0.0099,1KG_EAS_AF,ALMS1
445531,2:73688695:C>T,NM_015120.4:c.7671+6273C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.999,0.002,1KG_EAS_AF,ALMS1
445532,2:73688696:G>A,NM_015120.4:c.7671+6274G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.946,0.003,1KG_EUR_AF,ALMS1
445533,2:73688710:G>A,NM_015120.4:c.7671+6288G>A,\N,\N,9/22,Benign,\N,intron_variant,0.814,0.0219,1KG_AFR_AF,ALMS1
445534,2:73688714:C>T,NM_015120.4:c.7671+6292C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.152,0.0015,1KG_AFR_AF,ALMS1
445535,2:73688715:G>A,NM_015120.4:c.7671+6293G>A,\N,\N,9/22,Benign,\N,intron_variant,1.137,0.0053,1KG_AFR_AF,ALMS1
445536,2:73688716:G>A,NM_015120.4:c.7671+6294G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.7,0.001,1KG_SAS_AF,ALMS1
445537,2:73688746:G>C,NM_015120.4:c.7671+6324G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.129,\N,\N,ALMS1
445538,2:73688747:A>C,NM_015120.4:c.7671+6325A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.073,0.001,1KG_EAS_AF,ALMS1
445539,2:73688750:T>G,NM_015120.4:c.7671+6328T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.415,0.001,1KG_EAS_AF,ALMS1
445540,2:73688762:G>C,NM_015120.4:c.7671+6340G>C,\N,\N,9/22,Benign,\N,intron_variant,0.101,0.0711,1KG_AFR_AF,ALMS1
445541,2:73688784:C>T,NM_015120.4:c.7671+6362C>T,\N,\N,9/22,Benign,\N,intron_variant,0.978,0.7837,1KG_EAS_AF,ALMS1
445542,2:73688785:G>A,NM_015120.4:c.7671+6363G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.697,0.001,1KG_EUR_AF,ALMS1
445543,2:73688796:G>A,NM_015120.4:c.7671+6374G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.872,\N,\N,ALMS1
445544,2:73688847:G>T,NM_015120.4:c.7671+6425G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.249,\N,\N,ALMS1
445545,2:73688851:G>A,NM_015120.4:c.7671+6429G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.466,\N,\N,ALMS1
445546,2:73688865:A>G,NM_015120.4:c.7671+6443A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.174,\N,\N,ALMS1
445547,2:73688870:T>C,NM_015120.4:c.7671+6448T>C,\N,\N,9/22,Benign,\N,intron_variant,0.525,0.0461,1KG_AFR_AF,ALMS1
445548,2:73688907:G>A,NM_015120.4:c.7671+6485G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.124,0.0014,1KG_AMR_AF,ALMS1
445549,2:73688915:G>A,NM_015120.4:c.7671+6493G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.698,\N,\N,ALMS1
445550,2:73688916:C>G,NM_015120.4:c.7671+6494C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.483,0.0015,1KG_AFR_AF,ALMS1
445551,2:73688916:C>T,NM_015120.4:c.7671+6494C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.197,\N,\N,ALMS1
445552,2:73688926:G>A,NM_015120.4:c.7671+6504G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.906,0.001,1KG_SAS_AF,ALMS1
445553,2:73688945:C>G,NM_015120.4:c.7671+6523C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.624,0.001,1KG_EAS_AF,ALMS1
445554,2:73688958:G>A,NM_015120.4:c.7671+6536G>A,\N,\N,9/22,Benign,\N,intron_variant,0.949,0.0082,1KG_SAS_AF,ALMS1
445555,2:73689012:C>T,NM_015120.4:c.7671+6590C>T,\N,\N,9/22,Benign,\N,intron_variant,1.089,0.1369,1KG_AFR_AF,ALMS1
445556,2:73689013:G>A,NM_015120.4:c.7671+6591G>A,\N,\N,9/22,Benign,\N,intron_variant,0.645,0.0109,1KG_EAS_AF,ALMS1
445557,2:73689037:G>A,NM_015120.4:c.7671+6615G>A,\N,\N,9/22,Benign,\N,intron_variant,0.806,0.0069,1KG_EAS_AF,ALMS1
445558,2:73689047:A>G,NM_015120.4:c.7671+6625A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.21,0.003,1KG_AFR_AF,ALMS1
445559,2:73689060:C>A,NM_015120.4:c.7671+6638C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.351,0.001,1KG_EAS_AF,ALMS1
445560,2:73689063:C>T,NM_015120.4:c.7671+6641C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.912,0.0008,1KG_AFR_AF,ALMS1
445561,2:73689099:C>CT,NM_015120.4:c.7671+6677_7671+6678insT,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445562,2:73689099:C>T,NM_015120.4:c.7671+6677C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.011,0.0023,1KG_AFR_AF,ALMS1
445563,2:73689100:G>A,NM_015120.4:c.7671+6678G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.953,0.0008,1KG_AFR_AF,ALMS1
445564,2:73689108:G>C,NM_015120.4:c.7671+6686G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.128,0.0038,1KG_AFR_AF,ALMS1
445565,2:73689126:A>G,NM_015120.4:c.7671+6704A>G,\N,\N,9/22,Benign,\N,intron_variant,0.47,0.789,1KG_AFR_AF,ALMS1
445566,2:73689130:A>G,NM_015120.4:c.7671+6708A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.93,0.0038,1KG_AFR_AF,ALMS1
445567,2:73689159:C>T,NM_015120.4:c.7671+6737C>T,\N,\N,9/22,Benign,\N,intron_variant,0.873,0.0461,1KG_AFR_AF,ALMS1
445568,2:73689172:G>A,NM_015120.4:c.7671+6750G>A,\N,\N,9/22,Benign,\N,intron_variant,0.777,0.1089,1KG_AFR_AF,ALMS1
445569,2:73689195:AG>A,NM_015120.4:c.7671+6775del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445570,2:73689233:G>A,NM_015120.4:c.7671+6811G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.234,0.002,1KG_SAS_AF,ALMS1
445571,2:73689420:G>C,NM_015120.4:c.7671+6998G>C,\N,\N,9/22,Benign,\N,intron_variant,0.121,0.0076,1KG_AFR_AF,ALMS1
445572,2:73689423:A>T,NM_015120.4:c.7671+7001A>T,\N,\N,9/22,Benign,\N,intron_variant,0.357,0.0348,1KG_AFR_AF,ALMS1
445573,2:73689476:C>T,NM_015120.4:c.7671+7054C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.014,0.0045,1KG_AFR_AF,ALMS1
445574,2:73689477:G>C,NM_015120.4:c.7671+7055G>C,\N,\N,9/22,Benign,\N,intron_variant,0.084,0.0628,1KG_AFR_AF,ALMS1
445575,2:73689484:A>T,NM_015120.4:c.7671+7062A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.55,0.001,1KG_SAS_AF,ALMS1
445576,2:73689584:C>T,NM_015120.4:c.7671+7162C>T,\N,\N,9/22,Benign,\N,intron_variant,1.014,0.0711,1KG_AFR_AF,ALMS1
445577,2:73689585:G>A,NM_015120.4:c.7671+7163G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.655,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
445578,2:73689618:A>G,NM_015120.4:c.7671+7196A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.96,0.0014,1KG_AMR_AF,ALMS1
445579,2:73689642:A>C,NM_015120.4:c.7671+7220A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.288,0.003,1KG_EUR_AF,ALMS1
445580,2:73689670:A>C,NM_015120.4:c.7671+7248A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.327,0.0014,1KG_AMR_AF,ALMS1
445581,2:73689689:A>C,NM_015120.4:c.7671+7267A>C,\N,\N,9/22,Benign,\N,intron_variant,0.097,0.0719,1KG_AFR_AF,ALMS1
445582,2:73689715:C>T,NM_015120.4:c.7671+7293C>T,\N,\N,9/22,Benign,\N,intron_variant,1.36,0.0159,1KG_AFR_AF,ALMS1
445583,2:73689716:C>G,NM_015120.4:c.7671+7294C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.637,0.001,1KG_SAS_AF,ALMS1
445584,2:73689764:C>T,NM_015120.4:c.7671+7342C>T,\N,\N,9/22,Benign,\N,intron_variant,1.395,0.0129,1KG_EAS_AF,ALMS1
445585,2:73689861:T>C,NM_015120.4:c.7671+7439T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.44,0.0014,1KG_AMR_AF,ALMS1
445586,2:73689897:A>G,NM_015120.4:c.7671+7475A>G,\N,\N,9/22,Benign,\N,intron_variant,0.85,0.0174,1KG_SAS_AF,ALMS1
445587,2:73689916:A>C,NM_015120.4:c.7671+7494A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.086,0.001,1KG_EUR_AF,ALMS1
445588,2:73689952:A>G,NM_015120.4:c.7671+7530A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.908,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
445589,2:73689973:A>G,NM_015120.4:c.7671+7551A>G,\N,\N,9/22,Benign,\N,intron_variant,0.652,0.7867,1KG_AFR_AF,ALMS1
445590,2:73689981:CAAAG>C,NM_015120.4:c.7671+7562_7671+7565del,\N,\N,9/22,Unknown significance,\N,intron_variant,4.53,0.002,1KG_EUR_AF,ALMS1
445591,2:73689998:T>G,NM_015120.4:c.7671+7576T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.777,0.002,1KG_EUR_AF,ALMS1
445592,2:73690029:A>G,NM_015120.4:c.7671+7607A>G,\N,\N,9/22,Benign,\N,intron_variant,0.877,0.0537,1KG_AFR_AF,ALMS1
445593,2:73690032:A>C,NM_015120.4:c.7671+7610A>C,\N,\N,9/22,Benign,\N,intron_variant,0.252,0.0076,1KG_AFR_AF,ALMS1
445594,2:73690034:C>G,NM_015120.4:c.7671+7612C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.45,\N,\N,ALMS1
445595,2:73690035:T>A,NM_015120.4:c.7671+7613T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.352,\N,\N,ALMS1
445596,2:73690039:T>C,NM_015120.4:c.7671+7617T>C,\N,\N,9/22,Benign,\N,intron_variant,0.484,0.9452,1KG_AMR_AF,ALMS1
445597,2:73690041:A>G,NM_015120.4:c.7671+7619A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.58,0.002,1KG_SAS_AF,ALMS1
445598,2:73690092:T>G,NM_015120.4:c.7671+7670T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.899,0.0015,1KG_AFR_AF,ALMS1
445599,2:73690099:C>G,NM_015120.4:c.7671+7677C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.51,0.001,1KG_SAS_AF,ALMS1
445600,2:73690133:T>C,NM_015120.4:c.7671+7711T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.532,0.0008,1KG_AFR_AF,ALMS1
445601,2:73690136:G>C,NM_015120.4:c.7671+7714G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.125,0.001,1KG_SAS_AF,ALMS1
445602,2:73690161:A>G,NM_015120.4:c.7671+7739A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.644,0.0008,1KG_AFR_AF,ALMS1
445603,2:73690175:C>G,NM_015120.4:c.7671+7753C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.465,0.002,1KG_SAS_AF,ALMS1
445604,2:73690175:C>T,NM_015120.4:c.7671+7753C>T,\N,\N,9/22,Benign,\N,intron_variant,1.002,0.0113,1KG_AFR_AF,ALMS1
445605,2:73690188:T>C,NM_015120.4:c.7671+7766T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.524,0.0015,1KG_AFR_AF,ALMS1
445606,2:73690216:G>C,NM_015120.4:c.7671+7794G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.17,0.001,1KG_EAS_AF,ALMS1
445607,2:73690224:C>A,NM_015120.4:c.7671+7802C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.313,\N,\N,ALMS1
445608,2:73690227:A>G,NM_015120.4:c.7671+7805A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.042,0.004,1KG_EAS_AF,ALMS1
445609,2:73690229:C>T,NM_015120.4:c.7671+7807C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.345,0.0008,1KG_AFR_AF,ALMS1
445610,2:73690230:A>G,NM_015120.4:c.7671+7808A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.152,0.0015,1KG_AFR_AF,ALMS1
445611,2:73690249:A>C,NM_015120.4:c.7671+7827A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.197,0.0014,1KG_AMR_AF,ALMS1
445612,2:73690287:C>T,NM_015120.4:c.7671+7865C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.801,\N,\N,ALMS1
445613,2:73690300:C>T,NM_015120.4:c.7671+7878C>T,\N,\N,9/22,Benign,\N,intron_variant,1.321,0.0358,1KG_EUR_AF,ALMS1
445614,2:73690301:G>A,NM_015120.4:c.7671+7879G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.792,0.002,1KG_SAS_AF,ALMS1
445615,2:73690313:A>C,NM_015120.4:c.7671+7891A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.314,0.0008,1KG_AFR_AF,ALMS1
445616,2:73690396:A>T,NM_015120.4:c.7671+7974A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.811,0.0008,1KG_AFR_AF,ALMS1
445617,2:73690398:C>G,NM_015120.4:c.7671+7976C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.813,\N,\N,ALMS1
445618,2:73690400:A>G,NM_015120.4:c.7671+7978A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.61,0.0023,1KG_AFR_AF,ALMS1
445619,2:73690423:C>G,NM_015120.4:c.7671+8001C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.634,0.0015,1KG_AFR_AF,ALMS1
445620,2:73690435:C>T,NM_015120.4:c.7671+8013C>T,\N,\N,9/22,Benign,\N,intron_variant,1.07,0.0061,1KG_AFR_AF,ALMS1
445621,2:73690458:T>C,NM_015120.4:c.7671+8036T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.506,0.002,1KG_SAS_AF,ALMS1
445622,2:73690464:G>C,NM_015120.4:c.7671+8042G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.203,0.002,1KG_SAS_AF,ALMS1
445623,2:73690467:C>A,NM_015120.4:c.7671+8045C>A,\N,\N,9/22,Benign,\N,intron_variant,1.773,0.7827,1KG_EAS_AF,ALMS1
445624,2:73690491:C>A,NM_015120.4:c.7671+8069C>A,\N,\N,9/22,Benign,\N,intron_variant,1.518,0.7837,1KG_EAS_AF,ALMS1
445625,2:73690504:C>G,NM_015120.4:c.7671+8082C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.47,0.0014,1KG_AMR_AF,ALMS1
445626,2:73690505:A>C,NM_015120.4:c.7671+8083A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.088,0.0031,1KG_SAS_AF,ALMS1
445627,2:73690509:A>G,NM_015120.4:c.7671+8087A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.215,0.0015,1KG_AFR_AF,ALMS1
445628,2:73690515:G>T,NM_015120.4:c.7671+8093G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.209,\N,\N,ALMS1
445629,2:73690516:T>G,NM_015120.4:c.7671+8094T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.859,\N,\N,ALMS1
445630,2:73690569:A>C,NM_015120.4:c.7671+8147A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.093,0.001,1KG_SAS_AF,ALMS1
445631,2:73690618:A>G,NM_015120.4:c.7671+8196A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.298,\N,\N,ALMS1
445632,2:73690748:TAG>T,NM_015120.4:c.7671+8330_7671+8331del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445633,2:73690761:A>T,NM_015120.4:c.7671+8339A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.159,0.001,1KG_EUR_AF,ALMS1
445634,2:73690805:G>C,NM_015120.4:c.7671+8383G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.119,0.0038,1KG_AFR_AF,ALMS1
445635,2:73690815:A>AATCGAT,NM_015120.4:c.7671+8394_7671+8395insTCGATA,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445636,2:73690815:A>AATTGAT,NM_015120.4:c.7671+8394_7671+8395insTTGATA,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445637,2:73690819:C>T,NM_015120.4:c.7671+8397C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.376,\N,\N,ALMS1
445638,2:73690820:C>T,NM_015120.4:c.7671+8398C>T,\N,\N,9/22,Benign,\N,intron_variant,0.946,0.9092,1KG_AMR_AF,ALMS1
445639,2:73690826:C>A,NM_015120.4:c.7671+8404C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.575,0.0023,1KG_AFR_AF,ALMS1
445640,2:73690842:A>G,NM_015120.4:c.7671+8420A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.267,\N,\N,ALMS1
445641,2:73690854:G>T,NM_015120.4:c.7671+8432G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.229,0.001,1KG_EAS_AF,ALMS1
445642,2:73690883:A>G,NM_015120.4:c.7671+8461A>G,\N,\N,9/22,Benign,\N,intron_variant,0.839,0.1657,1KG_AMR_AF,ALMS1
445643,2:73690888:G>C,NM_015120.4:c.7671+8466G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.148,\N,\N,ALMS1
445644,2:73690907:C>A,NM_015120.4:c.7671+8485C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.179,0.001,1KG_SAS_AF,ALMS1
445645,2:73690950:T>C,NM_015120.4:c.7671+8528T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.321,0.004,1KG_EAS_AF,ALMS1
445646,2:73690951:G>A,NM_015120.4:c.7671+8529G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.927,0.004,1KG_EAS_AF,ALMS1
445647,2:73690983:C>T,NM_015120.4:c.7671+8561C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.093,\N,\N,ALMS1
445648,2:73690992:T>C,NM_015120.4:c.7671+8570T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.496,\N,\N,ALMS1
445649,2:73691018:A>C,NM_015120.4:c.7671+8596A>C,\N,\N,9/22,Benign,\N,intron_variant,0.168,0.0231,1KG_AMR_AF,ALMS1
445650,2:73691034:C>A,NM_015120.4:c.7671+8612C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.4,0.004,1KG_EAS_AF,ALMS1
445651,2:73691050:A>G,NM_015120.4:c.7671+8628A>G,\N,\N,9/22,Benign,\N,intron_variant,1.02,0.0102,1KG_SAS_AF,ALMS1
445652,2:73691069:A>T,NM_015120.4:c.7671+8647A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.453,0.0038,1KG_AFR_AF,ALMS1
445653,2:73691073:A>G,NM_015120.4:c.7671+8651A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.782,0.001,1KG_EUR_AF,ALMS1
445654,2:73691079:C>T,NM_015120.4:c.7671+8657C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.956,\N,\N,ALMS1
445655,2:73691100:A>G,NM_015120.4:c.7671+8678A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.364,0.001,1KG_SAS_AF,ALMS1
445656,2:73691141:G>A,NM_015120.4:c.7671+8719G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.832,0.001,1KG_SAS_AF,ALMS1
445657,2:73691143:A>C,NM_015120.4:c.7671+8721A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.239,0.003,1KG_AFR_AF,ALMS1
445658,2:73691144:C>A,NM_015120.4:c.7671+8722C>A,\N,\N,9/22,Benign,\N,intron_variant,0.838,0.7847,1KG_EAS_AF,ALMS1
445659,2:73691187:A>G,NM_015120.4:c.7671+8765A>G,\N,\N,9/22,Benign,\N,intron_variant,0.877,0.005,1KG_EAS_AF,ALMS1
445660,2:73691189:A>G,NM_015120.4:c.7671+8767A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.308,0.001,1KG_EAS_AF,ALMS1
445661,2:73691195:A>G,NM_015120.4:c.7671+8773A>G,\N,\N,9/22,Benign,\N,intron_variant,0.3,0.0242,1KG_AFR_AF,ALMS1
445662,2:73691213:C>T,NM_015120.4:c.7671+8791C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.76,0.001,1KG_EAS_AF,ALMS1
445663,2:73691216:A>G,NM_015120.4:c.7671+8794A>G,\N,\N,9/22,Benign,\N,intron_variant,0.968,0.0242,1KG_AFR_AF,ALMS1
445664,2:73691254:G>A,NM_015120.4:c.7671+8832G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.893,0.001,1KG_EAS_AF,ALMS1
445665,2:73691267:C>A,NM_015120.4:c.7671+8845C>A,\N,\N,9/22,Benign,\N,intron_variant,1.459,0.1326,1KG_AMR_AF,ALMS1
445666,2:73691294:C>G,NM_015120.4:c.7671+8872C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.554,0.001,1KG_EAS_AF,ALMS1
445667,2:73691295:C>T,NM_015120.4:c.7671+8873C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.89,0.001,1KG_EAS_AF,ALMS1
445668,2:73691297:G>A,NM_015120.4:c.7671+8875G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.541,0.001,1KG_SAS_AF,ALMS1
445669,2:73691313:A>T,NM_015120.4:c.7671+8891A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.441,0.0008,1KG_AFR_AF,ALMS1
445670,2:73691318:C>T,NM_015120.4:c.7671+8896C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.021,0.0008,1KG_AFR_AF,ALMS1
445671,2:73691356:T>C,NM_015120.4:c.7671+8934T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.453,0.001,1KG_SAS_AF,ALMS1
445672,2:73691358:A>G,NM_015120.4:c.7671+8936A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.641,0.001,1KG_SAS_AF,ALMS1
445673,2:73691387:C>A,NM_015120.4:c.7671+8965C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.869,0.002,1KG_EAS_AF,ALMS1
445674,2:73691424:A>C,NM_015120.4:c.7671+9002A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.23,0.001,1KG_EUR_AF,ALMS1
445675,2:73691435:C>T,NM_015120.4:c.7671+9013C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.018,0.001,1KG_SAS_AF,ALMS1
445676,2:73691436:G>A,NM_015120.4:c.7671+9014G>A,\N,\N,9/22,Benign,\N,intron_variant,0.817,0.0051,1KG_SAS_AF,ALMS1
445677,2:73691442:C>G,NM_015120.4:c.7671+9020C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.428,0.0008,1KG_AFR_AF,ALMS1
445678,2:73691444:G>T,NM_015120.4:c.7671+9022G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.292,0.0008,1KG_AFR_AF,ALMS1
445679,2:73691446:A>C,NM_015120.4:c.7671+9024A>C,\N,\N,9/22,Benign,\N,intron_variant,0.173,0.0298,1KG_EUR_AF,ALMS1
445680,2:73691501:G>A,NM_015120.4:c.7671+9079G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.023,0.002,1KG_SAS_AF,ALMS1
445681,2:73691524:C>G,NM_015120.4:c.7671+9102C>G,\N,\N,9/22,Benign,\N,intron_variant,0.678,0.6006,1KG_AFR_AF,ALMS1
445682,2:73691535:G>A,NM_015120.4:c.7671+9113G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.541,0.001,1KG_SAS_AF,ALMS1
445683,2:73691546:T>G,NM_015120.4:c.7671+9124T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.274,0.0008,1KG_AFR_AF,ALMS1
445684,2:73691548:A>G,NM_015120.4:c.7671+9126A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.733,0.001,1KG_SAS_AF,ALMS1
445685,2:73691551:G>T,NM_015120.4:c.7671+9129G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.216,0.001,1KG_SAS_AF,ALMS1
445686,2:73691621:G>A,NM_015120.4:c.7671+9199G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.454,0.0023,1KG_AFR_AF,ALMS1
445687,2:73691640:G>A,NM_015120.4:c.7671+9218G>A,\N,\N,9/22,Benign,\N,intron_variant,1.045,0.0069,1KG_EAS_AF,ALMS1
445688,2:73691657:A>C,NM_015120.4:c.7671+9235A>C,\N,\N,9/22,Benign,\N,intron_variant,0.177,0.007,1KG_EUR_AF,ALMS1
445689,2:73691667:C>G,NM_015120.4:c.7671+9245C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.585,0.0015,1KG_AFR_AF,ALMS1
445690,2:73691671:G>A,NM_015120.4:c.7671+9249G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.085,0.0015,1KG_AFR_AF,ALMS1
445691,2:73691672:G>A,NM_015120.4:c.7671+9250G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.739,\N,\N,ALMS1
445692,2:73691672:G>T,NM_015120.4:c.7671+9250G>T,\N,\N,9/22,Benign,\N,intron_variant,0.212,0.0119,1KG_EAS_AF,ALMS1
445693,2:73691683:C>A,NM_015120.4:c.7671+9261C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.047,0.001,1KG_EUR_AF,ALMS1
445694,2:73691688:C>A,NM_015120.4:c.7671+9266C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.946,0.001,1KG_EAS_AF,ALMS1
445695,2:73691693:A>G,NM_015120.4:c.7671+9271A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.992,0.0008,1KG_AFR_AF,ALMS1
445696,2:73691702:A>G,NM_015120.4:c.7671+9280A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.326,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
445697,2:73691759:A>G,NM_015120.4:c.7671+9337A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.071,0.0008,1KG_AFR_AF,ALMS1
445698,2:73691775:C>G,NM_015120.4:c.7671+9353C>G,\N,\N,9/22,Benign,\N,intron_variant,0.521,0.7907,1KG_EAS_AF,ALMS1
445699,2:73691776:T>A,NM_015120.4:c.7671+9354T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.006,0.002,1KG_SAS_AF,ALMS1
445700,2:73691821:AC>A,NM_015120.4:c.7671+9403del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445701,2:73691825:C>T,NM_015120.4:c.7671+9403C>T,\N,\N,9/22,Benign,\N,intron_variant,0.785,0.0166,1KG_AFR_AF,ALMS1
445702,2:73691826:G>A,NM_015120.4:c.7671+9404G>A,\N,\N,9/22,Benign,\N,intron_variant,0.475,0.0174,1KG_AFR_AF,ALMS1
445703,2:73691938:G>T,NM_015120.4:c.7671+9516G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.243,\N,\N,ALMS1
445704,2:73691944:G>A,NM_015120.4:c.7671+9522G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1,0.001,1KG_EUR_AF,ALMS1
445705,2:73691946:C>G,NM_015120.4:c.7671+9524C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.868,\N,\N,ALMS1
445706,2:73691972:A>T,NM_015120.4:c.7671+9550A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.534,0.002,1KG_SAS_AF,ALMS1
445707,2:73691983:A>T,NM_015120.4:c.7671+9561A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.448,0.0008,1KG_AFR_AF,ALMS1
445708,2:73691987:AG>A,NM_015120.4:c.7671+9566del,\N,\N,9/22,Benign,\N,intron_variant,0.393,0.0227,1KG_AFR_AF,ALMS1
445709,2:73691988:G>A,NM_015120.4:c.7671+9566G>A,\N,\N,9/22,Benign,\N,intron_variant,1.135,0.0149,1KG_EAS_AF,ALMS1
445710,2:73691990:A>C,NM_015120.4:c.7671+9568A>C,\N,\N,9/22,Benign,\N,intron_variant,0.442,0.0234,1KG_AFR_AF,ALMS1
445711,2:73692005:C>A,NM_015120.4:c.7671+9583C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.496,\N,\N,ALMS1
445712,2:73692015:A>G,NM_015120.4:c.7671+9593A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.024,\N,\N,ALMS1
445713,2:73692019:A>AT,NM_015120.4:c.7671+9598dup,\N,\N,9/22,Unknown significance,\N,intron_variant,0.072,\N,\N,ALMS1
445714,2:73692035:A>G,NM_015120.4:c.7671+9613A>G,\N,\N,9/22,Benign,\N,intron_variant,0.827,0.0303,1KG_AFR_AF,ALMS1
445715,2:73692042:A>G,NM_015120.4:c.7671+9620A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.172,0.001,1KG_SAS_AF,ALMS1
445716,2:73692043:C>G,NM_015120.4:c.7671+9621C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.534,0.003,1KG_EAS_AF,ALMS1
445717,2:73692045:A>G,NM_015120.4:c.7671+9623A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.333,\N,\N,ALMS1
445718,2:73692053:C>G,NM_015120.4:c.7671+9631C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.413,0.001,1KG_SAS_AF,ALMS1
445719,2:73692074:G>T,NM_015120.4:c.7671+9652G>T,\N,\N,9/22,Benign,\N,intron_variant,0.399,0.0545,1KG_AFR_AF,ALMS1
445720,2:73692112:A>G,NM_015120.4:c.7671+9690A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.198,0.0029,1KG_AMR_AF,ALMS1
445721,2:73692114:G>A,NM_015120.4:c.7671+9692G>A,\N,\N,9/22,Benign,\N,intron_variant,0.879,0.049,1KG_AMR_AF,ALMS1
445722,2:73692143:C>G,NM_015120.4:c.7671+9721C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.565,0.004,1KG_EAS_AF,ALMS1
445723,2:73692146:C>T,NM_015120.4:c.7671+9724C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.518,0.0015,1KG_AFR_AF,ALMS1
445724,2:73692168:A>G,NM_015120.4:c.7671+9746A>G,\N,\N,9/22,Benign,\N,intron_variant,1.505,0.1326,1KG_AMR_AF,ALMS1
445725,2:73692187:A>G,NM_015120.4:c.7671+9765A>G,\N,\N,9/22,Benign,\N,intron_variant,2.665,0.0711,1KG_AFR_AF,ALMS1
445726,2:73692210:A>G,NM_015120.4:c.7671+9788A>G,\N,\N,9/22,Benign,\N,intron_variant,1.229,0.0102,1KG_SAS_AF,ALMS1
445727,2:73692218:C>T,NM_015120.4:c.7671+9796C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.289,0.0015,1KG_AFR_AF,ALMS1
445728,2:73692231:C>T,NM_015120.4:c.7671+9809C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.847,0.0014,1KG_AMR_AF,ALMS1
445729,2:73692232:G>A,NM_015120.4:c.7671+9810G>A,\N,\N,9/22,Benign,\N,intron_variant,0.713,0.0424,1KG_AFR_AF,ALMS1
445730,2:73692233:G>A,NM_015120.4:c.7671+9811G>A,\N,\N,9/22,Benign,\N,intron_variant,0.977,0.0068,1KG_AFR_AF,ALMS1
445731,2:73692236:A>C,NM_015120.4:c.7671+9814A>C,\N,\N,9/22,Benign,\N,intron_variant,0.583,0.0068,1KG_AFR_AF,ALMS1
445732,2:73692245:AC>A,NM_015120.4:c.7671+9824del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445733,2:73692257:G>A,NM_015120.4:c.7671+9835G>A,\N,\N,9/22,Benign,\N,intron_variant,1.09,0.0068,1KG_AFR_AF,ALMS1
445734,2:73692264:C>CT,NM_015120.4:c.7671+9845dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445735,2:73692274:C>T,NM_015120.4:c.7671+9852C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.564,0.001,1KG_EAS_AF,ALMS1
445736,2:73692281:A>T,NM_015120.4:c.7671+9859A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.845,0.0014,1KG_AMR_AF,ALMS1
445737,2:73692292:A>T,NM_015120.4:c.7671+9870A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.482,0.001,1KG_SAS_AF,ALMS1
445738,2:73692304:C>G,NM_015120.4:c.7671+9882C>G,\N,\N,9/22,Benign,\N,intron_variant,0.927,0.0068,1KG_AFR_AF,ALMS1
445739,2:73692332:G>C,NM_015120.4:c.7671+9910G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.109,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
445740,2:73692364:A>G,NM_015120.4:c.7671+9942A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.083,0.001,1KG_EAS_AF,ALMS1
445741,2:73692388:A>G,NM_015120.4:c.7671+9966A>G,\N,\N,9/22,Benign,\N,intron_variant,0.69,0.1182,1KG_AMR_AF,ALMS1
445742,2:73692420:T>C,NM_015120.4:c.7671+9998T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.679,0.001,1KG_EUR_AF,ALMS1
445743,2:73692459:C>A,NM_015120.4:c.7671+10037C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.153,0.001,1KG_EUR_AF,ALMS1
445744,2:73692460:A>G,NM_015120.4:c.7671+10038A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.421,0.001,1KG_EUR_AF,ALMS1
445745,2:73692560:A>G,NM_015120.4:c.7671+10138A>G,\N,\N,9/22,Benign,\N,intron_variant,0.956,0.0106,1KG_AFR_AF,ALMS1
445746,2:73692584:C>A,NM_015120.4:c.7671+10162C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.138,\N,\N,ALMS1
445747,2:73692584:C>T,NM_015120.4:c.7671+10162C>T,\N,\N,9/22,Benign,\N,intron_variant,1.318,0.0083,1KG_AFR_AF,ALMS1
445748,2:73692626:A>G,NM_015120.4:c.7671+10204A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.818,0.004,1KG_EAS_AF,ALMS1
445749,2:73692635:C>T,NM_015120.4:c.7671+10213C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.995,0.001,1KG_SAS_AF,ALMS1
445750,2:73692644:C>T,NM_015120.4:c.7671+10222C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.434,\N,\N,ALMS1
445751,2:73692652:T>C,NM_015120.4:c.7671+10230T>C,\N,\N,9/22,Benign,\N,intron_variant,0.657,0.9438,1KG_AMR_AF,ALMS1
445752,2:73692677:G>C,NM_015120.4:c.7671+10255G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.111,0.0015,1KG_AFR_AF,ALMS1
445753,2:73692692:G>A,NM_015120.4:c.7671+10270G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.077,0.0015,1KG_AFR_AF,ALMS1
445754,2:73692701:A>G,NM_015120.4:c.7671+10279A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.959,0.0008,1KG_AFR_AF,ALMS1
445755,2:73692709:A>G,NM_015120.4:c.7671+10287A>G,\N,\N,9/22,Benign,\N,intron_variant,0.565,0.0072,1KG_SAS_AF,ALMS1
445756,2:73692750:C>A,NM_015120.4:c.7671+10328C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.673,0.003,1KG_AFR_AF,ALMS1
445757,2:73692798:C>G,NM_015120.4:c.7671+10376C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.609,0.0008,1KG_AFR_AF,ALMS1
445758,2:73692818:G>A,NM_015120.4:c.7671+10396G>A,\N,\N,9/22,Benign,\N,intron_variant,0.668,0.0072,1KG_AMR_AF,ALMS1
445759,2:73692823:G>C,NM_015120.4:c.7671+10401G>C,\N,\N,9/22,Benign,\N,intron_variant,0.109,0.7907,1KG_EAS_AF,ALMS1
445760,2:73692827:A>C,NM_015120.4:c.7671+10405A>C,\N,\N,9/22,Benign,\N,intron_variant,0.301,0.1167,1KG_AMR_AF,ALMS1
445761,2:73692853:C>T,NM_015120.4:c.7671+10431C>T,\N,\N,9/22,Benign,\N,intron_variant,0.724,0.1167,1KG_AMR_AF,ALMS1
445762,2:73692867:C>A,NM_015120.4:c.7671+10445C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.298,0.004,1KG_EAS_AF,ALMS1
445763,2:73692877:G>A,NM_015120.4:c.7671+10455G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.852,\N,\N,ALMS1
445764,2:73692916:C>T,NM_015120.4:c.7671+10494C>T,\N,\N,9/22,Benign,\N,intron_variant,0.985,0.0159,1KG_EUR_AF,ALMS1
445765,2:73692923:AAAAC>A,NM_015120.4:c.7671+10504_7671+10507del,\N,\N,9/22,Benign,\N,intron_variant,0.529,0.0098,1KG_AFR_AF,ALMS1
445766,2:73692936:C>G,NM_015120.4:c.7671+10514C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.512,0.001,1KG_EUR_AF,ALMS1
445767,2:73692939:A>C,NM_015120.4:c.7671+10517A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.156,0.001,1KG_EUR_AF,ALMS1
445768,2:73692964:C>T,NM_015120.4:c.7671+10542C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.154,0.001,1KG_EAS_AF,ALMS1
445769,2:73692980:A>T,NM_015120.4:c.7671+10558A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.469,0.001,1KG_SAS_AF,ALMS1
445770,2:73692982:A>G,NM_015120.4:c.7671+10560A>G,\N,\N,9/22,Benign,\N,intron_variant,0.388,0.013,1KG_AMR_AF,ALMS1
445771,2:73692992:G>C,NM_015120.4:c.7671+10570G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.159,\N,\N,ALMS1
445772,2:73693013:G>T,NM_015120.4:c.7671+10591G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.333,0.003,1KG_AFR_AF,ALMS1
445773,2:73693026:G>C,NM_015120.4:c.7671+10604G>C,\N,\N,9/22,Benign,\N,intron_variant,0.132,0.0711,1KG_AFR_AF,ALMS1
445774,2:73693028:A>C,NM_015120.4:c.7671+10606A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.284,0.002,1KG_EUR_AF|1KG_SAS_AF,ALMS1
445775,2:73693139:T>C,NM_015120.4:c.7671+10717T>C,\N,\N,9/22,Benign,\N,intron_variant,0.754,0.0058,1KG_AMR_AF,ALMS1
445776,2:73693147:CT>C,NM_015120.4:c.7671+10728del,\N,\N,9/22,Benign,\N,intron_variant,1.442,1,1KG_AFR_AF|1KG_AMR_AF|1KG_SAS_AF,ALMS1
445777,2:73693165:A>T,NM_015120.4:c.7671+10743A>T,\N,\N,9/22,Benign,\N,intron_variant,0.362,0.0348,1KG_AFR_AF,ALMS1
445778,2:73693168:A>G,NM_015120.4:c.7671+10746A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.382,\N,\N,ALMS1
445779,2:73693179:C>G,NM_015120.4:c.7671+10757C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.79,0.0015,1KG_AFR_AF,ALMS1
445780,2:73693179:C>T,NM_015120.4:c.7671+10757C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.319,0.0014,1KG_AMR_AF,ALMS1
445781,2:73693197:G>T,NM_015120.4:c.7671+10775G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.468,0.001,1KG_SAS_AF,ALMS1
445782,2:73693202:T>G,NM_015120.4:c.7671+10780T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.738,\N,\N,ALMS1
445783,2:73693210:T>C,NM_015120.4:c.7671+10788T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.031,0.001,1KG_EAS_AF,ALMS1
445784,2:73693224:C>G,NM_015120.4:c.7671+10802C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.291,0.0008,1KG_AFR_AF,ALMS1
445785,2:73693226:G>A,NM_015120.4:c.7671+10804G>A,\N,\N,9/22,Benign,\N,intron_variant,1.222,0.0098,1KG_AFR_AF,ALMS1
445786,2:73693253:A>C,NM_015120.4:c.7671+10831A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.792,0.001,1KG_EAS_AF,ALMS1
445787,2:73693256:T>A,NM_015120.4:c.7671+10834T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.053,0.0031,1KG_SAS_AF,ALMS1
445788,2:73693270:C>G,NM_015120.4:c.7671+10848C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.631,0.001,1KG_SAS_AF,ALMS1
445789,2:73693282:A>G,NM_015120.4:c.7671+10860A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.672,0.001,1KG_EUR_AF,ALMS1
445790,2:73693285:C>A,NM_015120.4:c.7671+10863C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.923,0.0008,1KG_AFR_AF,ALMS1
445791,2:73693286:G>T,NM_015120.4:c.7671+10864G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.123,\N,\N,ALMS1
445792,2:73693294:A>G,NM_015120.4:c.7671+10872A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.72,0.0014,1KG_AMR_AF,ALMS1
445793,2:73693346:T>G,NM_015120.4:c.7671+10924T>G,\N,\N,9/22,Benign,\N,intron_variant,2.099,0.0109,1KG_EAS_AF,ALMS1
445794,2:73693354:A>T,NM_015120.4:c.7671+10932A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.781,0.0015,1KG_AFR_AF,ALMS1
445795,2:73693359:C>G,NM_015120.4:c.7671+10937C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.008,0.001,1KG_SAS_AF,ALMS1
445796,2:73693404:A>G,NM_015120.4:c.7671+10982A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.502,0.0008,1KG_AFR_AF,ALMS1
445797,2:73693427:A>C,NM_015120.4:c.7671+11005A>C,\N,\N,9/22,Benign,\N,intron_variant,0.589,0.0098,1KG_AFR_AF,ALMS1
445798,2:73693444:A>G,NM_015120.4:c.7671+11022A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.407,0.0008,1KG_AFR_AF,ALMS1
445799,2:73693466:A>G,NM_015120.4:c.7671+11044A>G,\N,\N,9/22,Benign,\N,intron_variant,0.794,0.7867,1KG_EAS_AF,ALMS1
445800,2:73693517:A>C,NM_015120.4:c.7671+11095A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.63,0.001,1KG_SAS_AF,ALMS1
445801,2:73693522:A>T,NM_015120.4:c.7671+11100A>T,\N,\N,9/22,Benign,\N,intron_variant,2.576,0.0083,1KG_AFR_AF,ALMS1
445802,2:73693528:A>G,NM_015120.4:c.7671+11106A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.759,\N,\N,ALMS1
445803,2:73693570:A>T,NM_015120.4:c.7671+11148A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.098,\N,\N,ALMS1
445804,2:73693615:G>A,NM_015120.4:c.7671+11193G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.376,0.0014,1KG_AMR_AF,ALMS1
445805,2:73693619:G>C,NM_015120.4:c.7671+11197G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.677,\N,\N,ALMS1
445806,2:73693626:G>C,NM_015120.4:c.7671+11204G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.642,\N,\N,ALMS1
445807,2:73693639:G>C,NM_015120.4:c.7671+11217G>C,\N,\N,9/22,Benign,\N,intron_variant,0.66,0.0179,1KG_EUR_AF,ALMS1
445808,2:73693779:T>A,NM_015120.4:c.7671+11357T>A,\N,\N,9/22,Benign,\N,intron_variant,3.816,0.0068,1KG_AFR_AF,ALMS1
445809,2:73693789:C>G,NM_015120.4:c.7671+11367C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.716,\N,\N,ALMS1
445810,2:73693812:C>T,NM_015120.4:c.7671+11390C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.575,0.001,1KG_SAS_AF,ALMS1
445811,2:73693880:G>A,NM_015120.4:c.7671+11458G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.956,0.0008,1KG_AFR_AF,ALMS1
445812,2:73693901:C>G,NM_015120.4:c.7671+11479C>G,\N,\N,9/22,Benign,\N,intron_variant,7.454,0.0734,1KG_AFR_AF,ALMS1
445813,2:73693912:GAAAC>G,NM_015120.4:c.7671+11494_7671+11497del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445814,2:73693932:T>A,NM_015120.4:c.7671+11510T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.776,0.001,1KG_EAS_AF,ALMS1
445815,2:73693943:G>T,NM_015120.4:c.7671+11521G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.742,0.0015,1KG_AFR_AF,ALMS1
445816,2:73693963:A>G,NM_015120.4:c.7671+11541A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.955,0.001,1KG_SAS_AF,ALMS1
445817,2:73693984:T>C,NM_015120.4:c.7671+11562T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.534,0.001,1KG_SAS_AF,ALMS1
445818,2:73694043:A>G,NM_015120.4:c.7671+11621A>G,\N,\N,9/22,Benign,\N,intron_variant,2.912,0.7897,1KG_AFR_AF,ALMS1
445819,2:73694053:T>C,NM_015120.4:c.7671+11631T>C,\N,\N,9/22,Benign,\N,intron_variant,2.156,0.0082,1KG_SAS_AF,ALMS1
445820,2:73694111:A>G,NM_015120.4:c.7671+11689A>G,\N,\N,9/22,Benign,\N,intron_variant,7.441,0.0149,1KG_EAS_AF,ALMS1
445821,2:73694120:C>G,NM_015120.4:c.7671+11698C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.803,0.002,1KG_SAS_AF,ALMS1
445822,2:73694122:T>C,NM_015120.4:c.7671+11700T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.83,\N,\N,ALMS1
445823,2:73694127:C>T,NM_015120.4:c.7671+11705C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.856,\N,\N,ALMS1
445824,2:73694149:A>G,NM_015120.4:c.7671+11727A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.73,0.001,1KG_EAS_AF,ALMS1
445825,2:73694158:A>G,NM_015120.4:c.7671+11736A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.443,\N,\N,ALMS1
445826,2:73694159:C>T,NM_015120.4:c.7671+11737C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.894,0.0015,1KG_AFR_AF,ALMS1
445827,2:73694160:T>G,NM_015120.4:c.7671+11738T>G,\N,\N,9/22,Benign,\N,intron_variant,8.702,0.9452,1KG_AMR_AF,ALMS1
445828,2:73694180:T>G,NM_015120.4:c.7671+11758T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.4,0.0008,1KG_AFR_AF,ALMS1
445829,2:73694191:C>G,NM_015120.4:c.7671+11769C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,11.54,\N,\N,ALMS1
445830,2:73694201:T>C,NM_015120.4:c.7671+11779T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,11.4,0.0008,1KG_AFR_AF,ALMS1
445831,2:73694211:G>A,NM_015120.4:c.7671+11789G>A,\N,\N,9/22,Benign,\N,intron_variant,10.85,0.0386,1KG_AFR_AF,ALMS1
445832,2:73694212:G>A,NM_015120.4:c.7671+11790G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.7,\N,\N,ALMS1
445833,2:73694219:T>G,NM_015120.4:c.7671+11797T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.51,\N,\N,ALMS1
445834,2:73694220:T>C,NM_015120.4:c.7671+11798T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.411,0.001,1KG_EAS_AF,ALMS1
445835,2:73694228:CAAG>C,NM_015120.4:c.7671+11809_7671+11811del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445836,2:73694244:C>A,NM_015120.4:c.7671+11822C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.509,\N,\N,ALMS1
445837,2:73694244:C>CAT,NM_015120.4:c.7671+11822_7671+11823insAT,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445838,2:73694244:C>CTA,NM_015120.4:c.7671+11823_7671+11824insAT,\N,\N,9/22,Benign,\N,intron_variant,3.164,0.951,1KG_AMR_AF,ALMS1
445839,2:73694245:T>TTA,NM_015120.4:c.7671+11824_7671+11825insAT,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445840,2:73694274:C>G,NM_015120.4:c.7671+11852C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.027,0.0014,1KG_AMR_AF,ALMS1
445841,2:73694275:T>C,NM_015120.4:c.7671+11853T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.542,0.0008,1KG_AFR_AF,ALMS1
445842,2:73694313:A>G,NM_015120.4:c.7671+11891A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.525,0.002,1KG_SAS_AF,ALMS1
445843,2:73694328:A>G,NM_015120.4:c.7671+11906A>G,\N,\N,9/22,Benign,\N,intron_variant,6.147,0.0764,1KG_AFR_AF,ALMS1
445844,2:73694347:G>T,NM_015120.4:c.7671+11925G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.897,0.004,1KG_EUR_AF,ALMS1
445845,2:73694362:A>G,NM_015120.4:c.7671+11940A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.512,\N,\N,ALMS1
445846,2:73694364:A>T,NM_015120.4:c.7671+11942A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.01,\N,\N,ALMS1
445847,2:73694408:A>C,NM_015120.4:c.7671+11986A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.815,\N,\N,ALMS1
445848,2:73694410:A>G,NM_015120.4:c.7671+11988A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.399,0.001,1KG_EUR_AF,ALMS1
445849,2:73694439:A>G,NM_015120.4:c.7671+12017A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.308,0.0014,1KG_AMR_AF,ALMS1
445850,2:73694447:C>T,NM_015120.4:c.7671+12025C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.227,0.0008,1KG_AFR_AF,ALMS1
445851,2:73694458:A>T,NM_015120.4:c.7671+12036A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.59,0.0014,1KG_AMR_AF,ALMS1
445852,2:73694469:G>A,NM_015120.4:c.7671+12047G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.155,\N,\N,ALMS1
445853,2:73694496:A>G,NM_015120.4:c.7671+12074A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.803,\N,\N,ALMS1
445854,2:73694499:T>C,NM_015120.4:c.7671+12077T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.484,\N,\N,ALMS1
445855,2:73694503:T>A,NM_015120.4:c.7671+12081T>A,\N,\N,9/22,Benign,\N,intron_variant,6.935,0.0719,1KG_AFR_AF,ALMS1
445856,2:73694516:A>G,NM_015120.4:c.7671+12094A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.303,0.001,1KG_SAS_AF,ALMS1
445857,2:73694521:A>G,NM_015120.4:c.7671+12099A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.391,0.003,1KG_EAS_AF,ALMS1
445858,2:73694529:A>G,NM_015120.4:c.7671+12107A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.821,0.001,1KG_EAS_AF,ALMS1
445859,2:73694561:A>G,NM_015120.4:c.7671+12139A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.141,0.001,1KG_EAS_AF,ALMS1
445860,2:73694583:A>G,NM_015120.4:c.7671+12161A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.466,\N,\N,ALMS1
445861,2:73694590:G>C,NM_015120.4:c.7671+12168G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.382,0.003,1KG_EAS_AF,ALMS1
445862,2:73694593:A>C,NM_015120.4:c.7671+12171A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.851,0.0008,1KG_AFR_AF,ALMS1
445863,2:73694614:A>G,NM_015120.4:c.7671+12192A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.955,\N,\N,ALMS1
445864,2:73694637:G>A,NM_015120.4:c.7671+12215G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.868,0.0023,1KG_AFR_AF,ALMS1
445865,2:73694650:C>G,NM_015120.4:c.7671+12228C>G,\N,\N,9/22,Benign,\N,intron_variant,0.112,0.008,1KG_EUR_AF,ALMS1
445866,2:73694652:A>C,NM_015120.4:c.7671+12230A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.772,\N,\N,ALMS1
445867,2:73694653:C>T,NM_015120.4:c.7671+12231C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.509,0.003,1KG_EAS_AF,ALMS1
445868,2:73694725:T>C,NM_015120.4:c.7671+12303T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.446,\N,\N,ALMS1
445869,2:73694739:C>G,NM_015120.4:c.7671+12317C>G,\N,\N,9/22,Benign,\N,intron_variant,2.035,0.0072,1KG_SAS_AF,ALMS1
445870,2:73694755:A>G,NM_015120.4:c.7671+12333A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.03,0.0045,1KG_AFR_AF,ALMS1
445871,2:73694764:G>A,NM_015120.4:c.7671+12342G>A,\N,\N,9/22,Benign,\N,intron_variant,1.206,0.9265,1KG_AMR_AF,ALMS1
445872,2:73694795:C>T,NM_015120.4:c.7671+12373C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.08,0.002,1KG_EUR_AF,ALMS1
445873,2:73694805:A>T,NM_015120.4:c.7671+12383A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.528,0.0015,1KG_AFR_AF,ALMS1
445874,2:73694815:A>G,NM_015120.4:c.7671+12393A>G,\N,\N,9/22,Benign,\N,intron_variant,2.95,0.0072,1KG_SAS_AF,ALMS1
445875,2:73694816:T>A,NM_015120.4:c.7671+12394T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,7.156,0.001,1KG_EUR_AF,ALMS1
445876,2:73694824:A>G,NM_015120.4:c.7671+12402A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.048,0.001,1KG_SAS_AF,ALMS1
445877,2:73694834:T>C,NM_015120.4:c.7671+12412T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.538,\N,\N,ALMS1
445878,2:73694834:T>G,NM_015120.4:c.7671+12412T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.328,\N,\N,ALMS1
445879,2:73694845:A>G,NM_015120.4:c.7671+12423A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.78,\N,\N,ALMS1
445880,2:73694855:A>T,NM_015120.4:c.7671+12433A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.106,0.002,1KG_EAS_AF,ALMS1
445881,2:73694882:A>G,NM_015120.4:c.7671+12460A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.546,0.0014,1KG_AMR_AF,ALMS1
445882,2:73694899:A>G,NM_015120.4:c.7671+12477A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.807,\N,\N,ALMS1
445883,2:73694905:G>T,NM_015120.4:c.7671+12483G>T,\N,\N,9/22,Benign,\N,intron_variant,7.024,0.0358,1KG_EUR_AF,ALMS1
445884,2:73694911:A>T,NM_015120.4:c.7671+12489A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.529,\N,\N,ALMS1
445885,2:73694934:C>T,NM_015120.4:c.7671+12512C>T,\N,\N,9/22,Benign,\N,intron_variant,9.311,0.0239,1KG_EUR_AF,ALMS1
445886,2:73694948:A>G,NM_015120.4:c.7671+12526A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.859,\N,\N,ALMS1
445887,2:73694960:A>T,NM_015120.4:c.7671+12538A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.029,0.0008,1KG_AFR_AF,ALMS1
445888,2:73694962:A>G,NM_015120.4:c.7671+12540A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.112,\N,\N,ALMS1
445889,2:73695027:A>G,NM_015120.4:c.7671+12605A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.35,\N,\N,ALMS1
445890,2:73695040:C>T,NM_015120.4:c.7671+12618C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,10.97,0.0014,1KG_AMR_AF,ALMS1
445891,2:73695041:C>T,NM_015120.4:c.7671+12619C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.824,\N,\N,ALMS1
445892,2:73695049:G>C,NM_015120.4:c.7671+12627G>C,\N,\N,9/22,Benign,\N,intron_variant,6.646,0.0072,1KG_SAS_AF,ALMS1
445893,2:73695056:G>T,NM_015120.4:c.7671+12634G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.93,0.001,1KG_SAS_AF,ALMS1
445894,2:73695077:G>A,NM_015120.4:c.7671+12655G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.983,0.001,1KG_EAS_AF,ALMS1
445895,2:73695099:G>A,NM_015120.4:c.7671+12677G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.133,\N,\N,ALMS1
445896,2:73695128:G>A,NM_015120.4:c.7671+12706G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.15,\N,\N,ALMS1
445897,2:73695131:C>T,NM_015120.4:c.7671+12709C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.073,0.0015,1KG_AFR_AF,ALMS1
445898,2:73695134:C>T,NM_015120.4:c.7671+12712C>T,\N,\N,9/22,Benign,\N,intron_variant,1.628,0.0265,1KG_AFR_AF,ALMS1
445899,2:73695135:A>G,NM_015120.4:c.7671+12713A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.852,\N,\N,ALMS1
445900,2:73695156:T>C,NM_015120.4:c.7671+12734T>C,\N,\N,9/22,Benign,\N,intron_variant,2.249,0.0408,1KG_EUR_AF,ALMS1
445901,2:73695164:A>G,NM_015120.4:c.7671+12742A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.446,\N,\N,ALMS1
445902,2:73695199:A>T,NM_015120.4:c.7671+12777A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.467,0.001,1KG_SAS_AF,ALMS1
445903,2:73695227:A>G,NM_015120.4:c.7671+12805A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.042,0.0029,1KG_AMR_AF,ALMS1
445904,2:73695236:A>C,NM_015120.4:c.7671+12814A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.851,\N,\N,ALMS1
445905,2:73695257:A>C,NM_015120.4:c.7671+12835A>C,\N,\N,9/22,Benign,\N,intron_variant,7.633,0.0092,1KG_SAS_AF,ALMS1
445906,2:73695282:A>G,NM_015120.4:c.7671+12860A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.098,0.001,1KG_EAS_AF,ALMS1
445907,2:73695349:A>G,NM_015120.4:c.7671+12927A>G,\N,\N,9/22,Benign,\N,intron_variant,2.769,0.0102,1KG_SAS_AF,ALMS1
445908,2:73695351:C>G,NM_015120.4:c.7671+12929C>G,\N,\N,9/22,Benign,\N,intron_variant,0.014,0.0265,1KG_AFR_AF,ALMS1
445909,2:73695437:ACT>A,NM_015120.4:c.7671+13018_7671+13019del,\N,\N,9/22,Benign,\N,intron_variant,3.687,0.1354,1KG_AMR_AF,ALMS1
445910,2:73695478:G>A,NM_015120.4:c.7671+13056G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.589,\N,\N,ALMS1
445911,2:73695487:T>C,NM_015120.4:c.7671+13065T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.601,\N,\N,ALMS1
445912,2:73695501:T>C,NM_015120.4:c.7671+13079T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.69,0.0008,1KG_AFR_AF,ALMS1
445913,2:73695511:A>G,NM_015120.4:c.7671+13089A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.517,0.0008,1KG_AFR_AF,ALMS1
445914,2:73695539:C>T,NM_015120.4:c.7671+13117C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.819,0.002,1KG_SAS_AF,ALMS1
445915,2:73695551:G>C,NM_015120.4:c.7671+13129G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.298,0.001,1KG_EUR_AF,ALMS1
445916,2:73695555:A>G,NM_015120.4:c.7671+13133A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.607,0.001,1KG_EUR_AF,ALMS1
445917,2:73695565:T>C,NM_015120.4:c.7671+13143T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.867,\N,\N,ALMS1
445918,2:73695575:A>C,NM_015120.4:c.7671+13153A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.41,\N,\N,ALMS1
445919,2:73695579:A>G,NM_015120.4:c.7671+13157A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.805,0.001,1KG_EAS_AF,ALMS1
445920,2:73695581:ATTG>A,NM_015120.4:c.7671+13164_7671+13166del,\N,\N,9/22,Benign,\N,intron_variant,6.819,0.0139,1KG_EAS_AF,ALMS1
445921,2:73695608:G>A,NM_015120.4:c.7671+13186G>A,\N,\N,9/22,Benign,\N,intron_variant,3.009,0.2519,1KG_AFR_AF,ALMS1
445922,2:73695631:G>A,NM_015120.4:c.7671+13209G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.069,\N,\N,ALMS1
445923,2:73695641:A>G,NM_015120.4:c.7671+13219A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.463,\N,\N,ALMS1
445924,2:73695647:T>C,NM_015120.4:c.7671+13225T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.482,\N,\N,ALMS1
445925,2:73695653:T>C,NM_015120.4:c.7671+13231T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.471,0.001,1KG_EAS_AF,ALMS1
445926,2:73695671:T>G,NM_015120.4:c.7671+13249T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.639,\N,\N,ALMS1
445927,2:73695735:C>T,NM_015120.4:c.7671+13313C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.05,0.0015,1KG_AFR_AF,ALMS1
445928,2:73695744:C>A,NM_015120.4:c.7671+13322C>A,\N,\N,9/22,Benign,\N,intron_variant,12.31,0.0068,1KG_AFR_AF,ALMS1
445929,2:73695773:G>C,NM_015120.4:c.7671+13351G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.843,0.0015,1KG_AFR_AF,ALMS1
445930,2:73695788:G>T,NM_015120.4:c.7671+13366G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.68,\N,\N,ALMS1
445931,2:73695801:A>T,NM_015120.4:c.7671+13379A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.182,0.0014,1KG_AMR_AF,ALMS1
445932,2:73695838:T>C,NM_015120.4:c.7671+13416T>C,\N,\N,9/22,Benign,\N,intron_variant,0.218,0.1861,1KG_AFR_AF,ALMS1
445933,2:73695844:T>G,NM_015120.4:c.7671+13422T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.66,0.001,1KG_EAS_AF,ALMS1
445934,2:73695892:A>G,NM_015120.4:c.7671+13470A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.71,\N,\N,ALMS1
445935,2:73695896:CTATT>C,NM_015120.4:c.7671+13475_7671+13478del,\N,\N,9/22,Benign,\N,intron_variant,2.464,0.0174,1KG_SAS_AF,ALMS1
445936,2:73695898:A>G,NM_015120.4:c.7671+13476A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.253,\N,\N,ALMS1
445937,2:73695899:T>C,NM_015120.4:c.7671+13477T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.443,0.0014,1KG_AMR_AF,ALMS1
445938,2:73695909:T>G,NM_015120.4:c.7671+13487T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.179,0.0008,1KG_AFR_AF,ALMS1
445939,2:73695915:A>G,NM_015120.4:c.7671+13493A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.284,0.001,1KG_EAS_AF,ALMS1
445940,2:73695916:CT>C,NM_015120.4:c.7671+13498del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445941,2:73695945:C>A,NM_015120.4:c.7671+13523C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.477,0.001,1KG_EUR_AF,ALMS1
445942,2:73695949:C>T,NM_015120.4:c.7671+13527C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.485,0.0015,1KG_AFR_AF,ALMS1
445943,2:73695994:T>C,NM_015120.4:c.7671+13572T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.834,\N,\N,ALMS1
445944,2:73696019:C>T,NM_015120.4:c.7671+13597C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.299,0.0015,1KG_AFR_AF,ALMS1
445945,2:73696021:A>G,NM_015120.4:c.7671+13599A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.485,0.0029,1KG_AMR_AF,ALMS1
445946,2:73696082:T>G,NM_015120.4:c.7671+13660T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.505,\N,\N,ALMS1
445947,2:73696100:A>T,NM_015120.4:c.7671+13678A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.64,0.003,1KG_EUR_AF,ALMS1
445948,2:73696121:A>G,NM_015120.4:c.7671+13699A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.552,0.001,1KG_SAS_AF,ALMS1
445949,2:73696164:G>A,NM_015120.4:c.7671+13742G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.268,\N,\N,ALMS1
445950,2:73696188:T>A,NM_015120.4:c.7671+13766T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.808,0.002,1KG_EUR_AF,ALMS1
445951,2:73696190:A>G,NM_015120.4:c.7671+13768A>G,\N,\N,9/22,Benign,\N,intron_variant,2.352,0.0072,1KG_SAS_AF,ALMS1
445952,2:73696194:A>G,NM_015120.4:c.7671+13772A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.394,\N,\N,ALMS1
445953,2:73696200:C>T,NM_015120.4:c.7671+13778C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.146,\N,\N,ALMS1
445954,2:73696243:A>G,NM_015120.4:c.7671+13821A>G,\N,\N,9/22,Benign,\N,intron_variant,3.106,0.1248,1KG_AFR_AF,ALMS1
445955,2:73696277:A>G,NM_015120.4:c.7671+13855A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.626,0.0038,1KG_AFR_AF,ALMS1
445956,2:73696300:TAACTC>T,NM_015120.4:c.7671+13882_7671+13886del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445957,2:73696314:T>C,NM_015120.4:c.7671+13892T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.703,\N,\N,ALMS1
445958,2:73696316:G>GA,NM_015120.4:c.7671+13903dup,\N,\N,9/22,Unknown significance,\N,intron_variant,0.173,\N,\N,ALMS1
445959,2:73696327:C>T,NM_015120.4:c.7671+13905C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.99,0.0014,1KG_AMR_AF,ALMS1
445960,2:73696375:G>A,NM_015120.4:c.7671+13953G>A,\N,\N,9/22,Benign,\N,intron_variant,0.551,0.1369,1KG_AFR_AF,ALMS1
445961,2:73696397:T>C,NM_015120.4:c.7671+13975T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.814,0.0038,1KG_AFR_AF,ALMS1
445962,2:73696459:A>G,NM_015120.4:c.7671+14037A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.426,0.001,1KG_EAS_AF,ALMS1
445963,2:73696464:G>C,NM_015120.4:c.7671+14042G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.658,\N,\N,ALMS1
445964,2:73696472:C>T,NM_015120.4:c.7671+14050C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.044,0.002,1KG_EAS_AF,ALMS1
445965,2:73696489:A>T,NM_015120.4:c.7671+14067A>T,\N,\N,9/22,Benign,\N,intron_variant,1.188,0.0089,1KG_EAS_AF,ALMS1
445966,2:73696511:G>A,NM_015120.4:c.7671+14089G>A,\N,\N,9/22,Benign,\N,intron_variant,1.625,0.0408,1KG_EUR_AF,ALMS1
445967,2:73696530:A>G,NM_015120.4:c.7671+14108A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.905,0.001,1KG_SAS_AF,ALMS1
445968,2:73696534:A>G,NM_015120.4:c.7671+14112A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.693,0.001,1KG_EAS_AF,ALMS1
445969,2:73696536:A>G,NM_015120.4:c.7671+14114A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.762,\N,\N,ALMS1
445970,2:73696549:T>A,NM_015120.4:c.7671+14127T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.534,\N,\N,ALMS1
445971,2:73696555:G>A,NM_015120.4:c.7671+14133G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.641,0.0014,1KG_AMR_AF,ALMS1
445972,2:73696572:C>T,NM_015120.4:c.7671+14150C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.649,\N,\N,ALMS1
445973,2:73696582:A>T,NM_015120.4:c.7671+14160A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.912,\N,\N,ALMS1
445974,2:73696594:TAGG>T,NM_015120.4:c.7671+14175_7671+14177del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
445975,2:73696595:A>G,NM_015120.4:c.7671+14173A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.119,\N,\N,ALMS1
445976,2:73696610:A>G,NM_015120.4:c.7671+14188A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.879,0.0008,1KG_AFR_AF,ALMS1
445977,2:73696617:A>G,NM_015120.4:c.7671+14195A>G,\N,\N,9/22,Benign,\N,intron_variant,0.069,0.1044,1KG_EUR_AF,ALMS1
445978,2:73696655:G>T,NM_015120.4:c.7671+14233G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.32,\N,\N,ALMS1
445979,2:73696657:T>C,NM_015120.4:c.7671+14235T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,11.8,0.001,1KG_EUR_AF,ALMS1
445980,2:73696661:C>A,NM_015120.4:c.7671+14239C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.892,\N,\N,ALMS1
445981,2:73696666:A>G,NM_015120.4:c.7671+14244A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.088,\N,\N,ALMS1
445982,2:73696684:A>G,NM_015120.4:c.7671+14262A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.27,0.0038,1KG_AFR_AF,ALMS1
445983,2:73696687:G>A,NM_015120.4:c.7671+14265G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.678,0.0043,1KG_AMR_AF,ALMS1
445984,2:73696703:A>G,NM_015120.4:c.7671+14281A>G,\N,\N,9/22,Benign,\N,intron_variant,1.461,0.0051,1KG_SAS_AF,ALMS1
445985,2:73696717:A>G,NM_015120.4:c.7671+14295A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.601,\N,\N,ALMS1
445986,2:73696718:A>T,NM_015120.4:c.7671+14296A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.375,\N,\N,ALMS1
445987,2:73696723:T>C,NM_015120.4:c.7671+14301T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.507,\N,\N,ALMS1
445988,2:73696724:A>G,NM_015120.4:c.7671+14302A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.766,0.0045,1KG_AFR_AF,ALMS1
445989,2:73696782:A>G,NM_015120.4:c.7671+14360A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.686,\N,\N,ALMS1
445990,2:73696784:T>G,NM_015120.4:c.7671+14362T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.648,0.001,1KG_EAS_AF,ALMS1
445991,2:73696790:G>A,NM_015120.4:c.7671+14368G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.776,\N,\N,ALMS1
445992,2:73696812:A>G,NM_015120.4:c.7671+14390A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.127,0.001,1KG_EAS_AF,ALMS1
445993,2:73696829:T>C,NM_015120.4:c.7671+14407T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.701,0.003,1KG_AFR_AF,ALMS1
445994,2:73696836:A>G,NM_015120.4:c.7671+14414A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.651,0.001,1KG_SAS_AF,ALMS1
445995,2:73696848:C>T,NM_015120.4:c.7671+14426C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.207,\N,\N,ALMS1
445996,2:73696862:A>G,NM_015120.4:c.7671+14440A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.39,\N,\N,ALMS1
445997,2:73696863:G>T,NM_015120.4:c.7671+14441G>T,\N,\N,9/22,Benign,\N,intron_variant,0.429,0.0347,1KG_EAS_AF,ALMS1
445998,2:73696898:T>C,NM_015120.4:c.7671+14476T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.448,0.001,1KG_EUR_AF,ALMS1
445999,2:73696898:TA>T,NM_015120.4:c.7671+14477del,\N,\N,9/22,Benign,\N,intron_variant,8.62,0.0091,1KG_AFR_AF,ALMS1
446000,2:73696917:A>G,NM_015120.4:c.7671+14495A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.255,0.0014,1KG_AMR_AF,ALMS1
446001,2:73696946:A>G,NM_015120.4:c.7671+14524A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.362,0.0008,1KG_AFR_AF,ALMS1
446002,2:73696967:C>CA,NM_015120.4:c.7671+14547dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446003,2:73696986:TAAC>T,NM_015120.4:c.7671+14567_7671+14569del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446004,2:73697000:A>G,NM_015120.4:c.7671+14578A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.325,\N,\N,ALMS1
446005,2:73697006:T>A,NM_015120.4:c.7671+14584T>A,\N,\N,9/22,Benign,\N,intron_variant,1.131,0.006,1KG_EUR_AF,ALMS1
446006,2:73697077:G>C,NM_015120.4:c.7671+14655G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.565,\N,\N,ALMS1
446007,2:73697087:A>T,NM_015120.4:c.7671+14665A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.057,\N,\N,ALMS1
446008,2:73697092:C>T,NM_015120.4:c.7671+14670C>T,\N,\N,9/22,Benign,\N,intron_variant,2.841,0.2534,1KG_AFR_AF,ALMS1
446009,2:73697097:A>G,NM_015120.4:c.7671+14675A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.207,\N,\N,ALMS1
446010,2:73697160:T>G,NM_015120.4:c.7671+14738T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.99,0.0023,1KG_AFR_AF,ALMS1
446011,2:73697168:C>G,NM_015120.4:c.7671+14746C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.432,0.0015,1KG_AFR_AF,ALMS1
446012,2:73697232:C>T,NM_015120.4:c.7671+14810C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,12.41,0.001,1KG_EAS_AF,ALMS1
446013,2:73697241:T>A,NM_015120.4:c.7671+14819T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,15.56,0.001,1KG_EUR_AF,ALMS1
446014,2:73697250:A>C,NM_015120.4:c.7671+14828A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,10.79,0.001,1KG_SAS_AF,ALMS1
446015,2:73697295:T>TC,NM_015120.4:c.7671+14875dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446016,2:73697340:C>CT,NM_015120.4:c.7671+14924dup,\N,\N,9/22,Unknown significance,\N,intron_variant,7.249,\N,\N,ALMS1
446017,2:73697365:G>C,NM_015120.4:c.7671+14943G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.759,\N,\N,ALMS1
446018,2:73697373:C>G,NM_015120.4:c.7671+14951C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.325,0.0023,1KG_AFR_AF,ALMS1
446019,2:73697387:T>TC,NM_015120.4:c.7671+14967dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446020,2:73697406:A>G,NM_015120.4:c.7671+14984A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.659,0.0014,1KG_AMR_AF,ALMS1
446021,2:73697465:C>T,NM_015120.4:c.7671+15043C>T,\N,\N,9/22,Benign,\N,intron_variant,5.704,0.0227,1KG_AFR_AF,ALMS1
446022,2:73697473:C>T,NM_015120.4:c.7671+15051C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.852,0.0015,1KG_AFR_AF,ALMS1
446023,2:73697544:A>G,NM_015120.4:c.7671+15122A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.124,0.001,1KG_EUR_AF,ALMS1
446024,2:73697569:G>C,NM_015120.4:c.7671+15147G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.116,\N,\N,ALMS1
446025,2:73697583:T>C,NM_015120.4:c.7671+15161T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.358,\N,\N,ALMS1
446026,2:73697593:A>G,NM_015120.4:c.7671+15171A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.93,\N,\N,ALMS1
446027,2:73697623:C>T,NM_015120.4:c.7671+15201C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,10.54,\N,\N,ALMS1
446028,2:73697643:A>G,NM_015120.4:c.7671+15221A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.38,\N,\N,ALMS1
446029,2:73697699:C>G,NM_015120.4:c.7671+15277C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.902,\N,\N,ALMS1
446030,2:73697702:G>C,NM_015120.4:c.7671+15280G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.759,\N,\N,ALMS1
446031,2:73697760:CTG>C,NM_015120.4:c.7671+15342_7671+15343del,\N,\N,9/22,Benign,\N,intron_variant,13.63,0.1354,1KG_AMR_AF,ALMS1
446032,2:73697774:A>G,NM_015120.4:c.7671+15352A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,14.3,\N,\N,ALMS1
446033,2:73697780:A>T,NM_015120.4:c.7671+15358A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,13.47,\N,\N,ALMS1
446034,2:73697798:A>G,NM_015120.4:c.7671+15376A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.82,0.001,1KG_EAS_AF,ALMS1
446035,2:73697800:G>T,NM_015120.4:c.7671+15378G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.92,\N,\N,ALMS1
446036,2:73697828:G>T,NM_015120.4:c.7671+15406G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.795,0.0008,1KG_AFR_AF,ALMS1
446037,2:73697836:ATCT>A,NM_015120.4:c.7671+15418_7671+15420del,\N,\N,9/22,Benign,\N,intron_variant,8.124,0.0061,1KG_SAS_AF,ALMS1
446038,2:73697841:C>G,NM_015120.4:c.7671+15419C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.174,\N,\N,ALMS1
446039,2:73697844:C>T,NM_015120.4:c.7671+15422C>T,\N,\N,9/22,Benign,\N,intron_variant,7.655,0.857,1KG_AFR_AF,ALMS1
446040,2:73697866:T>C,NM_015120.4:c.7671+15444T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.635,\N,\N,ALMS1
446041,2:73697928:T>C,NM_015120.4:c.7671+15506T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.441,\N,\N,ALMS1
446042,2:73697955:G>T,NM_015120.4:c.7671+15533G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.588,\N,\N,ALMS1
446043,2:73698005:T>C,NM_015120.4:c.7671+15583T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.094,\N,\N,ALMS1
446044,2:73698017:A>G,NM_015120.4:c.7671+15595A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.448,\N,\N,ALMS1
446045,2:73698024:C>T,NM_015120.4:c.7671+15602C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.045,\N,\N,ALMS1
446046,2:73698061:A>G,NM_015120.4:c.7671+15639A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.607,\N,\N,ALMS1
446047,2:73698072:A>G,NM_015120.4:c.7671+15650A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.662,\N,\N,ALMS1
446048,2:73698074:A>G,NM_015120.4:c.7671+15652A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.343,0.0045,1KG_AFR_AF,ALMS1
446049,2:73698096:T>A,NM_015120.4:c.7671+15674T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.407,\N,\N,ALMS1
446050,2:73698096:T>C,NM_015120.4:c.7671+15674T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.575,\N,\N,ALMS1
446051,2:73698098:A>G,NM_015120.4:c.7671+15676A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.839,\N,\N,ALMS1
446052,2:73698122:G>A,NM_015120.4:c.7671+15700G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.194,0.0014,1KG_AMR_AF,ALMS1
446053,2:73698181:A>G,NM_015120.4:c.7671+15759A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.025,\N,\N,ALMS1
446054,2:73698192:G>T,NM_015120.4:c.7671+15770G>T,\N,\N,9/22,Benign,\N,intron_variant,2.464,0.0051,1KG_SAS_AF,ALMS1
446055,2:73698249:A>G,NM_015120.4:c.7671+15827A>G,\N,\N,9/22,Benign,\N,intron_variant,11.23,0.007,1KG_EUR_AF,ALMS1
446056,2:73698250:G>T,NM_015120.4:c.7671+15828G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.261,\N,\N,ALMS1
446057,2:73698278:T>C,NM_015120.4:c.7671+15856T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.887,\N,\N,ALMS1
446058,2:73698314:C>T,NM_015120.4:c.7671+15892C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.323,\N,\N,ALMS1
446059,2:73698351:CT>C,NM_015120.4:c.7671+15941del,\N,\N,9/22,Benign,\N,intron_variant,4.751,0.1611,1KG_AFR_AF,ALMS1
446060,2:73698397:G>A,NM_015120.4:c.7671+15975G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.482,\N,\N,ALMS1
446061,2:73698427:A>T,NM_015120.4:c.7671+16005A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.728,0.002,1KG_SAS_AF,ALMS1
446062,2:73698438:G>A,NM_015120.4:c.7671+16016G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.419,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
446063,2:73698471:G>C,NM_015120.4:c.7671+16049G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.55,0.002,1KG_SAS_AF,ALMS1
446064,2:73698476:T>C,NM_015120.4:c.7671+16054T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.3,0.0038,1KG_AFR_AF,ALMS1
446065,2:73698486:G>A,NM_015120.4:c.7671+16064G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.411,\N,\N,ALMS1
446066,2:73698486:G>C,NM_015120.4:c.7671+16064G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.301,0.0008,1KG_AFR_AF,ALMS1
446067,2:73698508:A>G,NM_015120.4:c.7671+16086A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.018,\N,\N,ALMS1
446068,2:73698516:G>C,NM_015120.4:c.7671+16094G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.737,0.001,1KG_EAS_AF,ALMS1
446069,2:73698518:C>A,NM_015120.4:c.7671+16096C>A,\N,\N,9/22,Benign,\N,intron_variant,3.936,0.8759,1KG_AFR_AF,ALMS1
446070,2:73698523:C>T,NM_015120.4:c.7671+16101C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.175,0.0008,1KG_AFR_AF,ALMS1
446071,2:73698533:A>G,NM_015120.4:c.7671+16111A>G,\N,\N,9/22,Benign,\N,intron_variant,6.673,0.0121,1KG_AFR_AF,ALMS1
446072,2:73698540:A>G,NM_015120.4:c.7671+16118A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.338,\N,\N,ALMS1
446073,2:73698561:A>T,NM_015120.4:c.7671+16139A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.928,0.0008,1KG_AFR_AF,ALMS1
446074,2:73698596:A>G,NM_015120.4:c.7671+16174A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.923,0.0014,1KG_AMR_AF,ALMS1
446075,2:73698615:A>C,NM_015120.4:c.7671+16193A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.427,\N,\N,ALMS1
446076,2:73698620:C>A,NM_015120.4:c.7671+16198C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.175,\N,\N,ALMS1
446077,2:73698620:C>CA,NM_015120.4:c.7671+16215dup,\N,\N,9/22,Benign,\N,intron_variant,4.171,0.2748,1KG_EAS_AF,ALMS1
446078,2:73698620:C>CAA,NM_015120.4:c.7671+16214_7671+16215dup,\N,\N,9/22,Unknown significance,\N,intron_variant,3.998,\N,\N,ALMS1
446079,2:73698620:C>CAAAAA,NM_015120.4:c.7671+16211_7671+16215dup,\N,\N,9/22,Unknown significance,\N,intron_variant,3.481,\N,\N,ALMS1
446080,2:73698620:C>CAAAAAA,NM_015120.4:c.7671+16210_7671+16215dup,\N,\N,9/22,Unknown significance,\N,intron_variant,3.311,\N,\N,ALMS1
446081,2:73698637:A>AAAAAAC,NM_015120.4:c.7671+16215_7671+16216insAAAAAC,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446082,2:73698637:A>AAAAC,NM_015120.4:c.7671+16215_7671+16216insAAAC,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446083,2:73698638:T>A,NM_015120.4:c.7671+16216T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.031,\N,\N,ALMS1
446084,2:73698656:A>T,NM_015120.4:c.7671+16234A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.628,0.001,1KG_EUR_AF,ALMS1
446085,2:73698708:A>T,NM_015120.4:c.7671+16286A>T,\N,\N,9/22,Benign,\N,intron_variant,1.52,0.1326,1KG_AMR_AF,ALMS1
446086,2:73698730:AT>A,NM_015120.4:c.7671+16309del,\N,\N,9/22,Benign,\N,intron_variant,2.463,0.0068,1KG_AFR_AF,ALMS1
446087,2:73698747:A>G,NM_015120.4:c.7671+16325A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.251,\N,\N,ALMS1
446088,2:73698752:G>A,NM_015120.4:c.7671+16330G>A,\N,\N,9/22,Benign,\N,intron_variant,0.742,0.062,1KG_AFR_AF,ALMS1
446089,2:73698757:T>C,NM_015120.4:c.7671+16335T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.487,\N,\N,ALMS1
446090,2:73698783:A>G,NM_015120.4:c.7671+16361A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.634,0.0014,1KG_AMR_AF,ALMS1
446091,2:73698786:A>G,NM_015120.4:c.7671+16364A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.062,\N,\N,ALMS1
446092,2:73698823:T>C,NM_015120.4:c.7671+16401T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.706,0.0015,1KG_AFR_AF,ALMS1
446093,2:73698866:G>A,NM_015120.4:c.7671+16444G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.639,\N,\N,ALMS1
446094,2:73698890:G>C,NM_015120.4:c.7671+16468G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.512,0.0014,1KG_AMR_AF,ALMS1
446095,2:73698908:T>G,NM_015120.4:c.7671+16486T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.403,0.001,1KG_EUR_AF,ALMS1
446096,2:73698913:C>G,NM_015120.4:c.7671+16491C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.926,0.001,1KG_EUR_AF,ALMS1
446097,2:73698952:G>T,NM_015120.4:c.7671+16530G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.062,0.0041,1KG_SAS_AF,ALMS1
446098,2:73698958:A>G,NM_015120.4:c.7671+16536A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.591,\N,\N,ALMS1
446099,2:73698967:A>G,NM_015120.4:c.7671+16545A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.421,\N,\N,ALMS1
446100,2:73699023:T>C,NM_015120.4:c.7671+16601T>C,\N,\N,9/22,Benign,\N,intron_variant,10.61,0.0249,1KG_EUR_AF,ALMS1
446101,2:73699027:A>G,NM_015120.4:c.7671+16605A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.77,\N,\N,ALMS1
446102,2:73699036:A>G,NM_015120.4:c.7671+16614A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.45,0.001,1KG_EUR_AF,ALMS1
446103,2:73699049:C>G,NM_015120.4:c.7671+16627C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.863,\N,\N,ALMS1
446104,2:73699064:A>G,NM_015120.4:c.7671+16642A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.815,\N,\N,ALMS1
446105,2:73699093:G>T,NM_015120.4:c.7671+16671G>T,\N,\N,9/22,Benign,\N,intron_variant,0.917,0.0234,1KG_AFR_AF,ALMS1
446106,2:73699109:T>C,NM_015120.4:c.7671+16687T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.254,\N,\N,ALMS1
446107,2:73699110:G>C,NM_015120.4:c.7671+16688G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.584,\N,\N,ALMS1
446108,2:73699117:A>G,NM_015120.4:c.7671+16695A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.507,0.001,1KG_EAS_AF,ALMS1
446109,2:73699126:A>G,NM_015120.4:c.7671+16704A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.58,\N,\N,ALMS1
446110,2:73699160:G>A,NM_015120.4:c.7671+16738G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.804,\N,\N,ALMS1
446111,2:73699168:C>T,NM_015120.4:c.7671+16746C>T,\N,\N,9/22,Benign,\N,intron_variant,8.507,0.0109,1KG_EUR_AF,ALMS1
446112,2:73699171:C>A,NM_015120.4:c.7671+16749C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.876,\N,\N,ALMS1
446113,2:73699185:C>T,NM_015120.4:c.7671+16763C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.783,\N,\N,ALMS1
446114,2:73699191:A>G,NM_015120.4:c.7671+16769A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.042,0.003,1KG_AFR_AF,ALMS1
446115,2:73699207:G>T,NM_015120.4:c.7671+16785G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.863,0.0015,1KG_AFR_AF,ALMS1
446116,2:73699211:C>T,NM_015120.4:c.7671+16789C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.76,0.0015,1KG_AFR_AF,ALMS1
446117,2:73699229:A>G,NM_015120.4:c.7671+16807A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.567,0.001,1KG_EAS_AF,ALMS1
446118,2:73699238:G>T,NM_015120.4:c.7671+16816G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.941,\N,\N,ALMS1
446119,2:73699259:C>G,NM_015120.4:c.7671+16837C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.884,\N,\N,ALMS1
446120,2:73699353:C>T,NM_015120.4:c.7671+16931C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.973,0.0014,1KG_AMR_AF,ALMS1
446121,2:73699366:G>A,NM_015120.4:c.7671+16944G>A,\N,\N,9/22,Benign,\N,intron_variant,6.401,0.0098,1KG_AFR_AF,ALMS1
446122,2:73699382:G>A,NM_015120.4:c.7671+16960G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.41,\N,\N,ALMS1
446123,2:73699387:T>G,NM_015120.4:c.7671+16965T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.427,0.0008,1KG_AFR_AF,ALMS1
446124,2:73699408:A>T,NM_015120.4:c.7671+16986A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.645,\N,\N,ALMS1
446125,2:73699418:A>G,NM_015120.4:c.7671+16996A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.39,0.002,1KG_SAS_AF,ALMS1
446126,2:73699511:C>G,NM_015120.4:c.7671+17089C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.137,0.0014,1KG_AMR_AF,ALMS1
446127,2:73699517:A>G,NM_015120.4:c.7671+17095A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.259,0.002,1KG_EUR_AF,ALMS1
446128,2:73699560:A>G,NM_015120.4:c.7671+17138A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.579,0.001,1KG_SAS_AF,ALMS1
446129,2:73699664:C>T,NM_015120.4:c.7672-17097C>T,\N,\N,9/22,Benign,\N,intron_variant,1.672,0.1846,1KG_AFR_AF,ALMS1
446130,2:73699666:A>C,NM_015120.4:c.7672-17095A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.381,0.0015,1KG_AFR_AF,ALMS1
446131,2:73699673:C>G,NM_015120.4:c.7672-17088C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.352,\N,\N,ALMS1
446132,2:73699687:G>C,NM_015120.4:c.7672-17074G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.413,\N,\N,ALMS1
446133,2:73699736:A>C,NM_015120.4:c.7672-17025A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.701,\N,\N,ALMS1
446134,2:73699750:G>C,NM_015120.4:c.7672-17011G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.097,\N,\N,ALMS1
446135,2:73699758:C>A,NM_015120.4:c.7672-17003C>A,\N,\N,9/22,Benign,\N,intron_variant,2.194,0.006,1KG_EUR_AF,ALMS1
446136,2:73699763:G>A,NM_015120.4:c.7672-16998G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.784,\N,\N,ALMS1
446137,2:73699769:C>T,NM_015120.4:c.7672-16992C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.105,0.0008,1KG_AFR_AF,ALMS1
446138,2:73699790:C>A,NM_015120.4:c.7672-16971C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.51,0.0008,1KG_AFR_AF,ALMS1
446139,2:73699819:G>C,NM_015120.4:c.7672-16942G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.096,\N,\N,ALMS1
446140,2:73699829:A>G,NM_015120.4:c.7672-16932A>G,\N,\N,9/22,Benign,\N,intron_variant,2.633,0.005,1KG_EUR_AF,ALMS1
446141,2:73699846:A>G,NM_015120.4:c.7672-16915A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.156,\N,\N,ALMS1
446142,2:73699847:G>A,NM_015120.4:c.7672-16914G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.992,0.001,1KG_EUR_AF,ALMS1
446143,2:73699860:A>G,NM_015120.4:c.7672-16901A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.104,\N,\N,ALMS1
446144,2:73699879:C>T,NM_015120.4:c.7672-16882C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.789,\N,\N,ALMS1
446145,2:73699882:G>A,NM_015120.4:c.7672-16879G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.462,0.0008,1KG_AFR_AF,ALMS1
446146,2:73699882:G>C,NM_015120.4:c.7672-16879G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.377,\N,\N,ALMS1
446147,2:73699995:T>C,NM_015120.4:c.7672-16766T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.039,\N,\N,ALMS1
446148,2:73700023:C>G,NM_015120.4:c.7672-16738C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.937,0.002,1KG_EAS_AF,ALMS1
446149,2:73700023:C>T,NM_015120.4:c.7672-16738C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.05,\N,\N,ALMS1
446150,2:73700024:G>A,NM_015120.4:c.7672-16737G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.583,0.004,1KG_EUR_AF,ALMS1
446151,2:73700033:G>A,NM_015120.4:c.7672-16728G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.251,0.001,1KG_SAS_AF,ALMS1
446152,2:73700049:G>A,NM_015120.4:c.7672-16712G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.43,0.0014,1KG_AMR_AF,ALMS1
446153,2:73700093:A>G,NM_015120.4:c.7672-16668A>G,\N,\N,9/22,Benign,\N,intron_variant,10.51,0.1861,1KG_AFR_AF,ALMS1
446154,2:73700120:G>A,NM_015120.4:c.7672-16641G>A,\N,\N,9/22,Benign,\N,intron_variant,4.517,0.0164,1KG_SAS_AF,ALMS1
446155,2:73700131:A>C,NM_015120.4:c.7672-16630A>C,\N,\N,9/22,Benign,\N,intron_variant,4.553,0.6051,1KG_AFR_AF,ALMS1
446156,2:73700146:T>A,NM_015120.4:c.7672-16615T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,7.689,0.0014,1KG_AMR_AF,ALMS1
446157,2:73700160:T>C,NM_015120.4:c.7672-16601T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.69,0.0038,1KG_AFR_AF,ALMS1
446158,2:73700170:T>G,NM_015120.4:c.7672-16591T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.305,\N,\N,ALMS1
446159,2:73700206:G>A,NM_015120.4:c.7672-16555G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.293,\N,\N,ALMS1
446160,2:73700274:C>T,NM_015120.4:c.7672-16487C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.064,0.0014,1KG_AMR_AF,ALMS1
446161,2:73700297:A>G,NM_015120.4:c.7672-16464A>G,\N,\N,9/22,Benign,\N,intron_variant,2.339,0.0061,1KG_SAS_AF,ALMS1
446162,2:73700336:G>A,NM_015120.4:c.7672-16425G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.039,\N,\N,ALMS1
446163,2:73700351:C>T,NM_015120.4:c.7672-16410C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.065,0.0014,1KG_AMR_AF,ALMS1
446164,2:73700361:A>G,NM_015120.4:c.7672-16400A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.824,0.001,1KG_EAS_AF,ALMS1
446165,2:73700380:G>GT,NM_015120.4:c.7672-16373dup,\N,\N,9/22,Benign,\N,intron_variant,8.896,0.7887,1KG_EAS_AF,ALMS1
446166,2:73700423:G>A,NM_015120.4:c.7672-16338G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.416,0.003,1KG_AFR_AF,ALMS1
446167,2:73700424:G>C,NM_015120.4:c.7672-16337G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.236,\N,\N,ALMS1
446168,2:73700432:G>A,NM_015120.4:c.7672-16329G>A,\N,\N,9/22,Benign,\N,intron_variant,8.709,0.0079,1KG_EAS_AF,ALMS1
446169,2:73700456:C>T,NM_015120.4:c.7672-16305C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.167,0.003,1KG_AFR_AF,ALMS1
446170,2:73700483:A>G,NM_015120.4:c.7672-16278A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.228,0.0043,1KG_AMR_AF,ALMS1
446171,2:73700526:C>G,NM_015120.4:c.7672-16235C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.066,\N,\N,ALMS1
446172,2:73700526:C>T,NM_015120.4:c.7672-16235C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.108,\N,\N,ALMS1
446173,2:73700548:A>G,NM_015120.4:c.7672-16213A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,13.45,\N,\N,ALMS1
446174,2:73700549:G>C,NM_015120.4:c.7672-16212G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,12.17,0.0008,1KG_AFR_AF,ALMS1
446175,2:73700563:C>T,NM_015120.4:c.7672-16198C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,14.44,\N,\N,ALMS1
446176,2:73700606:A>G,NM_015120.4:c.7672-16155A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.93,\N,\N,ALMS1
446177,2:73700624:T>C,NM_015120.4:c.7672-16137T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.716,0.0008,1KG_AFR_AF,ALMS1
446178,2:73700625:T>C,NM_015120.4:c.7672-16136T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.633,0.0023,1KG_AFR_AF,ALMS1
446179,2:73700684:A>C,NM_015120.4:c.7672-16077A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.408,0.0008,1KG_AFR_AF,ALMS1
446180,2:73700708:G>C,NM_015120.4:c.7672-16053G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.178,\N,\N,ALMS1
446181,2:73700727:G>A,NM_015120.4:c.7672-16034G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.52,0.0008,1KG_AFR_AF,ALMS1
446182,2:73700743:A>G,NM_015120.4:c.7672-16018A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.978,\N,\N,ALMS1
446183,2:73700790:C>A,NM_015120.4:c.7672-15971C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.572,\N,\N,ALMS1
446184,2:73700805:T>A,NM_015120.4:c.7672-15956T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.448,\N,\N,ALMS1
446185,2:73700805:T>C,NM_015120.4:c.7672-15956T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.822,\N,\N,ALMS1
446186,2:73700807:G>A,NM_015120.4:c.7672-15954G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.067,\N,\N,ALMS1
446187,2:73700809:C>T,NM_015120.4:c.7672-15952C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.712,0.002,1KG_EAS_AF,ALMS1
446188,2:73700809:CAA>C,NM_015120.4:c.7672-15950_7672-15949del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446189,2:73700811:AAG>A,NM_015120.4:c.7672-15946_7672-15945del,\N,\N,9/22,Benign,\N,intron_variant,7.819,0.1846,1KG_AFR_AF,ALMS1
446190,2:73700814:AG>A,NM_015120.4:c.7672-15946del,\N,\N,9/22,Unknown significance,\N,intron_variant,8.414,\N,\N,ALMS1
446191,2:73700830:A>G,NM_015120.4:c.7672-15931A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.065,0.001,1KG_EUR_AF,ALMS1
446192,2:73700843:T>A,NM_015120.4:c.7672-15918T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.96,\N,\N,ALMS1
446193,2:73700853:G>A,NM_015120.4:c.7672-15908G>A,\N,\N,9/22,Benign,\N,intron_variant,8.999,0.7857,1KG_EAS_AF,ALMS1
446194,2:73700890:A>G,NM_015120.4:c.7672-15871A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.744,\N,\N,ALMS1
446195,2:73700921:A>G,NM_015120.4:c.7672-15840A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.89,0.001,1KG_EAS_AF,ALMS1
446196,2:73700930:A>G,NM_015120.4:c.7672-15831A>G,\N,\N,9/22,Benign,\N,intron_variant,5.661,0.7857,1KG_EAS_AF,ALMS1
446197,2:73700940:T>C,NM_015120.4:c.7672-15821T>C,\N,\N,9/22,Benign,\N,intron_variant,1.412,0.1846,1KG_AFR_AF,ALMS1
446198,2:73700945:T>C,NM_015120.4:c.7672-15816T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.974,0.002,1KG_EAS_AF,ALMS1
446199,2:73700976:T>G,NM_015120.4:c.7672-15785T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,13.49,\N,\N,ALMS1
446200,2:73700977:A>G,NM_015120.4:c.7672-15784A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,11.12,\N,\N,ALMS1
446201,2:73700996:A>G,NM_015120.4:c.7672-15765A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.988,0.0008,1KG_AFR_AF,ALMS1
446202,2:73701019:A>G,NM_015120.4:c.7672-15742A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.953,0.001,1KG_SAS_AF,ALMS1
446203,2:73701024:T>C,NM_015120.4:c.7672-15737T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.701,\N,\N,ALMS1
446204,2:73701047:AAG>A,NM_015120.4:c.7672-15688_7672-15687del,\N,\N,9/22,Benign,\N,intron_variant,0.707,0.7817,1KG_EAS_AF,ALMS1
446205,2:73701047:AAGAG>A,NM_015120.4:c.7672-15690_7672-15687del,\N,\N,9/22,Benign,\N,intron_variant,3.677,0.1891,1KG_AFR_AF,ALMS1
446206,2:73701063:G>GAC,NM_015120.4:c.7672-15697_7672-15696insCA,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446207,2:73701081:C>T,NM_015120.4:c.7672-15680C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.768,\N,\N,ALMS1
446208,2:73701082:G>A,NM_015120.4:c.7672-15679G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.398,0.0015,1KG_AFR_AF,ALMS1
446209,2:73701092:T>C,NM_015120.4:c.7672-15669T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.127,0.0031,1KG_SAS_AF,ALMS1
446210,2:73701093:T>A,NM_015120.4:c.7672-15668T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.575,0.001,1KG_SAS_AF,ALMS1
446211,2:73701146:A>G,NM_015120.4:c.7672-15615A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.883,\N,\N,ALMS1
446212,2:73701158:CAAAG>C,NM_015120.4:c.7672-15601_7672-15598del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446213,2:73701191:A>G,NM_015120.4:c.7672-15570A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.451,\N,\N,ALMS1
446214,2:73701236:A>G,NM_015120.4:c.7672-15525A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.12,0.0008,1KG_AFR_AF,ALMS1
446215,2:73701237:T>C,NM_015120.4:c.7672-15524T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.655,0.0031,1KG_SAS_AF,ALMS1
446216,2:73701267:A>AT,NM_015120.4:c.7672-15484dup,\N,\N,9/22,Benign,\N,intron_variant,4.528,0.0855,1KG_EUR_AF,ALMS1
446217,2:73701272:T>TG,NM_015120.4:c.7672-15489_7672-15488insG,\N,\N,9/22,Unknown significance,\N,intron_variant,8.162,0.0038,1KG_AFR_AF,ALMS1
446218,2:73701310:T>G,NM_015120.4:c.7672-15451T>G,\N,\N,9/22,Benign,\N,intron_variant,9.821,0.0219,1KG_AFR_AF,ALMS1
446219,2:73701330:A>T,NM_015120.4:c.7672-15431A>T,\N,\N,9/22,Benign,\N,intron_variant,4.002,0.0115,1KG_AMR_AF,ALMS1
446220,2:73701338:C>T,NM_015120.4:c.7672-15423C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.206,\N,\N,ALMS1
446221,2:73701346:C>T,NM_015120.4:c.7672-15415C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.004,0.002,1KG_EAS_AF,ALMS1
446222,2:73701366:A>T,NM_015120.4:c.7672-15395A>T,\N,\N,9/22,Benign,\N,intron_variant,1.333,0.0208,1KG_EAS_AF,ALMS1
446223,2:73701374:G>A,NM_015120.4:c.7672-15387G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.539,0.001,1KG_EUR_AF,ALMS1
446224,2:73701378:A>AT,NM_015120.4:c.7672-15376dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,0.0014,1KG_AMR_AF,ALMS1
446225,2:73701390:C>G,NM_015120.4:c.7672-15371C>G,\N,\N,9/22,Benign,\N,intron_variant,2.269,0.0133,1KG_SAS_AF,ALMS1
446226,2:73701410:T>C,NM_015120.4:c.7672-15351T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.176,0.0045,1KG_AFR_AF,ALMS1
446227,2:73701446:C>T,NM_015120.4:c.7672-15315C>T,\N,\N,9/22,Benign,\N,intron_variant,0.089,0.0461,1KG_AFR_AF,ALMS1
446228,2:73701449:T>A,NM_015120.4:c.7672-15312T>A,\N,\N,9/22,Benign,\N,intron_variant,5.122,0.008,1KG_EUR_AF,ALMS1
446229,2:73701464:A>G,NM_015120.4:c.7672-15297A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.16,0.001,1KG_EUR_AF,ALMS1
446230,2:73701491:G>C,NM_015120.4:c.7672-15270G>C,\N,\N,9/22,Benign,\N,intron_variant,0.62,0.0159,1KG_EAS_AF,ALMS1
446231,2:73701498:C>CTG,NM_015120.4:c.7672-15225_7672-15224dup,\N,\N,9/22,Unknown significance,\N,intron_variant,3.021,\N,\N,ALMS1
446232,2:73701498:C>G,NM_015120.4:c.7672-15263C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.477,\N,\N,ALMS1
446233,2:73701498:CTGTGTGTGTGTGTGTGTGTGTGTG>C,NM_015120.4:c.7672-15247_7672-15224del,\N,\N,9/22,Unknown significance,\N,intron_variant,5.25,\N,\N,ALMS1
446234,2:73701512:G>C,NM_015120.4:c.7672-15249G>C,\N,\N,9/22,Benign,\N,intron_variant,4.283,0.0129,1KG_AFR_AF,ALMS1
446235,2:73701522:G>C,NM_015120.4:c.7672-15239G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.102,\N,\N,ALMS1
446236,2:73701528:G>C,NM_015120.4:c.7672-15233G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.239,\N,\N,ALMS1
446237,2:73701528:G>GTGTC,NM_015120.4:c.7672-15230_7672-15229insCTGT,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446238,2:73701528:G>GTGTGTC,NM_015120.4:c.7672-15228_7672-15227insCTGTGT,\N,\N,9/22,Unknown significance,\N,intron_variant,1.615,\N,\N,ALMS1
446239,2:73701530:G>C,NM_015120.4:c.7672-15231G>C,\N,\N,9/22,Benign,\N,intron_variant,0.649,0.1157,1KG_AFR_AF,ALMS1
446240,2:73701530:G>GTC,NM_015120.4:c.7672-15230_7672-15229insCT,\N,\N,9/22,Unknown significance,\N,intron_variant,1.838,\N,\N,ALMS1
446241,2:73701530:G>GTGTGTC,NM_015120.4:c.7672-15226_7672-15225insCTGTGT,\N,\N,9/22,Unknown significance,\N,intron_variant,1.386,\N,\N,ALMS1
446242,2:73701532:G>C,NM_015120.4:c.7672-15229G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.705,\N,\N,ALMS1
446243,2:73701532:G>GTC,NM_015120.4:c.7672-15228_7672-15227insCT,\N,\N,9/22,Unknown significance,\N,intron_variant,1.29,\N,\N,ALMS1
446244,2:73701532:G>GTGT,NM_015120.4:c.7672-15228_7672-15226dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446245,2:73701532:GTGTGTC>G,NM_015120.4:c.7672-15227_7672-15222del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446246,2:73701534:G>C,NM_015120.4:c.7672-15227G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.318,\N,\N,ALMS1
446247,2:73701538:C>CTGTG,NM_015120.4:c.7672-15222_7672-15221insGTGT,\N,\N,9/22,Unknown significance,\N,intron_variant,2.516,\N,\N,ALMS1
446248,2:73701538:C>CTGTGTCTGTG,NM_015120.4:c.7672-15222_7672-15221insGTGTCTGTGT,\N,\N,9/22,Unknown significance,\N,intron_variant,1.702,\N,\N,ALMS1
446249,2:73701538:C>G,NM_015120.4:c.7672-15223C>G,\N,\N,9/22,Benign,\N,intron_variant,2.471,0.733,1KG_AFR_AF,ALMS1
446250,2:73701550:A>G,NM_015120.4:c.7672-15211A>G,\N,\N,9/22,Benign,\N,intron_variant,0.802,0.0083,1KG_AFR_AF,ALMS1
446251,2:73701570:A>C,NM_015120.4:c.7672-15191A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.978,0.0008,1KG_AFR_AF,ALMS1
446252,2:73701636:C>T,NM_015120.4:c.7672-15125C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.238,\N,\N,ALMS1
446253,2:73701655:G>T,NM_015120.4:c.7672-15106G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.159,\N,\N,ALMS1
446254,2:73701669:T>A,NM_015120.4:c.7672-15092T>A,\N,\N,9/22,Benign,\N,intron_variant,4.15,0.7887,1KG_EAS_AF,ALMS1
446255,2:73701682:A>G,NM_015120.4:c.7672-15079A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.941,0.0015,1KG_AFR_AF,ALMS1
446256,2:73701684:G>A,NM_015120.4:c.7672-15077G>A,\N,\N,9/22,Benign,\N,intron_variant,2.534,0.0219,1KG_EUR_AF,ALMS1
446257,2:73701694:C>T,NM_015120.4:c.7672-15067C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.125,\N,\N,ALMS1
446258,2:73701695:G>A,NM_015120.4:c.7672-15066G>A,\N,\N,9/22,Benign,\N,intron_variant,0.527,0.0356,1KG_AFR_AF,ALMS1
446259,2:73701706:A>G,NM_015120.4:c.7672-15055A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.787,\N,\N,ALMS1
446260,2:73701717:T>A,NM_015120.4:c.7672-15044T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.65,0.001,1KG_EAS_AF,ALMS1
446261,2:73701721:T>C,NM_015120.4:c.7672-15040T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.103,\N,\N,ALMS1
446262,2:73701724:C>G,NM_015120.4:c.7672-15037C>G,\N,\N,9/22,Benign,\N,intron_variant,9.257,0.0129,1KG_EAS_AF,ALMS1
446263,2:73701761:C>G,NM_015120.4:c.7672-15000C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,11.9,0.001,1KG_SAS_AF,ALMS1
446264,2:73701765:C>T,NM_015120.4:c.7672-14996C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,12.76,0.0014,1KG_AMR_AF,ALMS1
446265,2:73701808:G>T,NM_015120.4:c.7672-14953G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,13.99,\N,\N,ALMS1
446266,2:73701857:T>A,NM_015120.4:c.7672-14904T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.6,0.0031,1KG_SAS_AF,ALMS1
446267,2:73701862:T>G,NM_015120.4:c.7672-14899T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.805,\N,\N,ALMS1
446268,2:73701882:A>G,NM_015120.4:c.7672-14879A>G,\N,\N,9/22,Benign,\N,intron_variant,0.104,0.006,1KG_EAS_AF,ALMS1
446269,2:73701911:A>G,NM_015120.4:c.7672-14850A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.831,0.001,1KG_SAS_AF,ALMS1
446270,2:73701922:A>G,NM_015120.4:c.7672-14839A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.381,\N,\N,ALMS1
446271,2:73701944:A>C,NM_015120.4:c.7672-14817A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.651,\N,\N,ALMS1
446272,2:73701975:T>C,NM_015120.4:c.7672-14786T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.186,0.0014,1KG_AMR_AF,ALMS1
446273,2:73702021:G>A,NM_015120.4:c.7672-14740G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.8,0.002,1KG_SAS_AF,ALMS1
446274,2:73702033:C>G,NM_015120.4:c.7672-14728C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.7,0.0015,1KG_AFR_AF,ALMS1
446275,2:73702042:A>G,NM_015120.4:c.7672-14719A>G,\N,\N,9/22,Benign,\N,intron_variant,6.258,0.0113,1KG_AFR_AF,ALMS1
446276,2:73702057:C>G,NM_015120.4:c.7672-14704C>G,\N,\N,9/22,Benign,\N,intron_variant,4.414,0.0072,1KG_AMR_AF,ALMS1
446277,2:73702083:T>C,NM_015120.4:c.7672-14678T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.191,0.001,1KG_SAS_AF,ALMS1
446278,2:73702088:C>T,NM_015120.4:c.7672-14673C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.713,0.002,1KG_EAS_AF,ALMS1
446279,2:73702152:A>T,NM_015120.4:c.7672-14609A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.32,\N,\N,ALMS1
446280,2:73702159:A>T,NM_015120.4:c.7672-14602A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.3,\N,\N,ALMS1
446281,2:73702168:TC>T,NM_015120.4:c.7672-14592del,\N,\N,9/22,Benign,\N,intron_variant,13.78,0.0711,1KG_AFR_AF,ALMS1
446282,2:73702170:A>C,NM_015120.4:c.7672-14591A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,12.95,0.0014,1KG_AMR_AF,ALMS1
446283,2:73702213:C>T,NM_015120.4:c.7672-14548C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.112,0.002,1KG_EUR_AF,ALMS1
446284,2:73702327:T>C,NM_015120.4:c.7672-14434T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,10.38,\N,\N,ALMS1
446285,2:73702344:A>G,NM_015120.4:c.7672-14417A>G,\N,\N,9/22,Benign,\N,intron_variant,2.551,0.789,1KG_AFR_AF,ALMS1
446286,2:73702397:C>T,NM_015120.4:c.7672-14364C>T,\N,\N,9/22,Benign,\N,intron_variant,10.32,0.2526,1KG_AFR_AF,ALMS1
446287,2:73702427:C>G,NM_015120.4:c.7672-14334C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,17.1,0.001,1KG_SAS_AF,ALMS1
446288,2:73702471:T>C,NM_015120.4:c.7672-14290T>C,\N,\N,9/22,Benign,\N,intron_variant,0.068,0.0153,1KG_SAS_AF,ALMS1
446289,2:73702511:C>T,NM_015120.4:c.7672-14250C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.511,0.0008,1KG_AFR_AF,ALMS1
446290,2:73702556:G>A,NM_015120.4:c.7672-14205G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.998,0.0014,1KG_AMR_AF,ALMS1
446291,2:73702583:C>T,NM_015120.4:c.7672-14178C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.42,0.002,1KG_SAS_AF,ALMS1
446292,2:73702599:A>G,NM_015120.4:c.7672-14162A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.13,\N,\N,ALMS1
446293,2:73702600:A>G,NM_015120.4:c.7672-14161A>G,\N,\N,9/22,Benign,\N,intron_variant,10.65,0.0295,1KG_AFR_AF,ALMS1
446294,2:73702610:A>G,NM_015120.4:c.7672-14151A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.48,\N,\N,ALMS1
446295,2:73702612:A>T,NM_015120.4:c.7672-14149A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.094,0.0014,1KG_AMR_AF,ALMS1
446296,2:73702661:T>C,NM_015120.4:c.7672-14100T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,10.12,0.003,1KG_AFR_AF,ALMS1
446297,2:73702664:A>C,NM_015120.4:c.7672-14097A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.55,0.0008,1KG_AFR_AF,ALMS1
446298,2:73702771:A>G,NM_015120.4:c.7672-13990A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.017,0.002,1KG_EAS_AF,ALMS1
446299,2:73702773:A>C,NM_015120.4:c.7672-13988A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.632,\N,\N,ALMS1
446300,2:73702825:C>T,NM_015120.4:c.7672-13936C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.834,0.0015,1KG_AFR_AF,ALMS1
446301,2:73702840:T>C,NM_015120.4:c.7672-13921T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.986,0.001,1KG_SAS_AF,ALMS1
446302,2:73702873:C>A,NM_015120.4:c.7672-13888C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.69,0.0015,1KG_AFR_AF,ALMS1
446303,2:73702894:T>C,NM_015120.4:c.7672-13867T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,14.91,0.0014,1KG_AMR_AF,ALMS1
446304,2:73702933:A>G,NM_015120.4:c.7672-13828A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.41,\N,\N,ALMS1
446305,2:73702935:T>G,NM_015120.4:c.7672-13826T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,11.76,0.001,1KG_SAS_AF,ALMS1
446306,2:73702968:A>G,NM_015120.4:c.7672-13793A>G,\N,\N,9/22,Benign,\N,intron_variant,1.602,0.0673,1KG_AFR_AF,ALMS1
446307,2:73702976:A>G,NM_015120.4:c.7672-13785A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.253,\N,\N,ALMS1
446308,2:73702989:T>G,NM_015120.4:c.7672-13772T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.232,\N,\N,ALMS1
446309,2:73703054:A>G,NM_015120.4:c.7672-13707A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,11.6,0.0008,1KG_AFR_AF,ALMS1
446310,2:73703056:C>T,NM_015120.4:c.7672-13705C>T,\N,\N,9/22,Benign,\N,intron_variant,11.79,0.0072,1KG_AMR_AF,ALMS1
446311,2:73703067:A>ATATG,NM_015120.4:c.7672-13693_7672-13690dup,\N,\N,9/22,Benign,\N,intron_variant,6.147,0.1846,1KG_AFR_AF,ALMS1
446312,2:73703082:G>A,NM_015120.4:c.7672-13679G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.27,0.001,1KG_SAS_AF,ALMS1
446313,2:73703112:A>G,NM_015120.4:c.7672-13649A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.5,0.0008,1KG_AFR_AF,ALMS1
446314,2:73703122:C>T,NM_015120.4:c.7672-13639C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.56,\N,\N,ALMS1
446315,2:73703170:TC>T,NM_015120.4:c.7672-13587del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446316,2:73703202:A>C,NM_015120.4:c.7672-13559A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.133,\N,\N,ALMS1
446317,2:73703220:T>C,NM_015120.4:c.7672-13541T>C,\N,\N,9/22,Benign,\N,intron_variant,3.792,0.0174,1KG_SAS_AF,ALMS1
446318,2:73703224:T>A,NM_015120.4:c.7672-13537T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.696,\N,\N,ALMS1
446319,2:73703263:A>G,NM_015120.4:c.7672-13498A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.655,\N,\N,ALMS1
446320,2:73703345:G>A,NM_015120.4:c.7672-13416G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,12.66,0.0008,1KG_AFR_AF,ALMS1
446321,2:73703346:T>G,NM_015120.4:c.7672-13415T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.95,0.0008,1KG_AFR_AF,ALMS1
446322,2:73703372:A>G,NM_015120.4:c.7672-13389A>G,\N,\N,9/22,Benign,\N,intron_variant,4.991,0.0091,1KG_AFR_AF,ALMS1
446323,2:73703374:A>G,NM_015120.4:c.7672-13387A>G,\N,\N,9/22,Benign,\N,intron_variant,3.92,0.7847,1KG_EAS_AF,ALMS1
446324,2:73703391:G>A,NM_015120.4:c.7672-13370G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.709,\N,\N,ALMS1
446325,2:73703401:A>AT,NM_015120.4:c.7672-13360_7672-13359insT,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446326,2:73703404:A>AC,NM_015120.4:c.7672-13357_7672-13356insC,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446327,2:73703405:A>ATTGT,NM_015120.4:c.7672-13356_7672-13355insTTGT,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446328,2:73703407:A>T,NM_015120.4:c.7672-13354A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.143,\N,\N,ALMS1
446329,2:73703410:T>G,NM_015120.4:c.7672-13351T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.579,\N,\N,ALMS1
446330,2:73703413:T>TG,NM_015120.4:c.7672-13348_7672-13347insG,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446331,2:73703418:T>TG,NM_015120.4:c.7672-13343_7672-13342insG,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446332,2:73703419:C>T,NM_015120.4:c.7672-13342C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.503,\N,\N,ALMS1
446333,2:73703422:C>G,NM_015120.4:c.7672-13339C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.201,\N,\N,ALMS1
446334,2:73703423:T>C,NM_015120.4:c.7672-13338T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.354,\N,\N,ALMS1
446335,2:73703425:TTG>T,NM_015120.4:c.7672-13335_7672-13334del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446336,2:73703429:TA>T,NM_015120.4:c.7672-13331del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446337,2:73703431:G>GCC,NM_015120.4:c.7672-13330_7672-13329insCC,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446338,2:73703447:C>T,NM_015120.4:c.7672-13314C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.28,\N,\N,ALMS1
446339,2:73703457:G>A,NM_015120.4:c.7672-13304G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.817,\N,\N,ALMS1
446340,2:73703460:A>G,NM_015120.4:c.7672-13301A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.631,0.001,1KG_SAS_AF,ALMS1
446341,2:73703494:T>C,NM_015120.4:c.7672-13267T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,5.732,\N,\N,ALMS1
446342,2:73703554:C>T,NM_015120.4:c.7672-13207C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.311,\N,\N,ALMS1
446343,2:73703562:A>G,NM_015120.4:c.7672-13199A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.153,0.0008,1KG_AFR_AF,ALMS1
446344,2:73703565:C>T,NM_015120.4:c.7672-13196C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.444,\N,\N,ALMS1
446345,2:73703570:A>C,NM_015120.4:c.7672-13191A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.752,\N,\N,ALMS1
446346,2:73703576:C>G,NM_015120.4:c.7672-13185C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.32,0.001,1KG_SAS_AF,ALMS1
446347,2:73703599:C>T,NM_015120.4:c.7672-13162C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.559,0.001,1KG_EAS_AF,ALMS1
446348,2:73703622:C>T,NM_015120.4:c.7672-13139C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.455,0.001,1KG_EAS_AF,ALMS1
446349,2:73703637:C>T,NM_015120.4:c.7672-13124C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.379,0.001,1KG_EUR_AF,ALMS1
446350,2:73703650:C>T,NM_015120.4:c.7672-13111C>T,\N,\N,9/22,Benign,\N,intron_variant,0.414,0.0189,1KG_AFR_AF,ALMS1
446351,2:73703697:G>GT,NM_015120.4:c.7672-13055dup,\N,\N,9/22,Unknown significance,\N,intron_variant,0.671,\N,\N,ALMS1
446352,2:73703711:T>G,NM_015120.4:c.7672-13050T>G,\N,\N,9/22,Benign,\N,intron_variant,0.102,0.9931,1KG_EAS_AF,ALMS1
446353,2:73703722:T>C,NM_015120.4:c.7672-13039T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.639,0.002,1KG_EAS_AF,ALMS1
446354,2:73703871:C>T,NM_015120.4:c.7672-12890C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,12.76,0.001,1KG_SAS_AF,ALMS1
446355,2:73703904:C>T,NM_015120.4:c.7672-12857C>T,\N,\N,9/22,Benign,\N,intron_variant,8.933,0.7877,1KG_EAS_AF,ALMS1
446356,2:73703924:A>C,NM_015120.4:c.7672-12837A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.184,0.001,1KG_SAS_AF,ALMS1
446357,2:73703986:G>C,NM_015120.4:c.7672-12775G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.05,\N,\N,ALMS1
446358,2:73703989:C>T,NM_015120.4:c.7672-12772C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.701,\N,\N,ALMS1
446359,2:73704003:T>C,NM_015120.4:c.7672-12758T>C,\N,\N,9/22,Benign,\N,intron_variant,2.092,0.7857,1KG_EAS_AF,ALMS1
446360,2:73704017:C>T,NM_015120.4:c.7672-12744C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.048,0.0008,1KG_AFR_AF,ALMS1
446361,2:73704029:C>G,NM_015120.4:c.7672-12732C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.123,\N,\N,ALMS1
446362,2:73704057:A>G,NM_015120.4:c.7672-12704A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.178,0.001,1KG_SAS_AF,ALMS1
446363,2:73704082:A>G,NM_015120.4:c.7672-12679A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.428,\N,\N,ALMS1
446364,2:73704098:C>A,NM_015120.4:c.7672-12663C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.8,0.0023,1KG_AFR_AF,ALMS1
446365,2:73704126:A>G,NM_015120.4:c.7672-12635A>G,\N,\N,9/22,Benign,\N,intron_variant,10.04,0.0129,1KG_EUR_AF,ALMS1
446366,2:73704128:T>A,NM_015120.4:c.7672-12633T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,12.43,0.0008,1KG_AFR_AF,ALMS1
446367,2:73704150:A>T,NM_015120.4:c.7672-12611A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.763,0.0015,1KG_AFR_AF,ALMS1
446368,2:73704151:T>C,NM_015120.4:c.7672-12610T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.874,\N,\N,ALMS1
446369,2:73704156:C>T,NM_015120.4:c.7672-12605C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.472,\N,\N,ALMS1
446370,2:73704161:T>C,NM_015120.4:c.7672-12600T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.292,\N,\N,ALMS1
446371,2:73704185:C>G,NM_015120.4:c.7672-12576C>G,\N,\N,9/22,Benign,\N,intron_variant,1.516,0.0174,1KG_AFR_AF,ALMS1
446372,2:73704200:A>G,NM_015120.4:c.7672-12561A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.416,0.0014,1KG_AMR_AF,ALMS1
446373,2:73704202:T>G,NM_015120.4:c.7672-12559T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.82,0.0014,1KG_AMR_AF,ALMS1
446374,2:73704220:T>C,NM_015120.4:c.7672-12541T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.193,0.001,1KG_SAS_AF,ALMS1
446375,2:73704272:T>A,NM_015120.4:c.7672-12489T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.893,\N,\N,ALMS1
446376,2:73704274:T>C,NM_015120.4:c.7672-12487T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.914,\N,\N,ALMS1
446377,2:73704308:T>C,NM_015120.4:c.7672-12453T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.226,0.001,1KG_EAS_AF,ALMS1
446378,2:73704322:G>A,NM_015120.4:c.7672-12439G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.241,\N,\N,ALMS1
446379,2:73704329:C>G,NM_015120.4:c.7672-12432C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.397,\N,\N,ALMS1
446380,2:73704339:T>C,NM_015120.4:c.7672-12422T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.378,\N,\N,ALMS1
446381,2:73704380:G>C,NM_015120.4:c.7672-12381G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.229,0.004,1KG_EUR_AF,ALMS1
446382,2:73704415:T>C,NM_015120.4:c.7672-12346T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.534,\N,\N,ALMS1
446383,2:73704441:T>A,NM_015120.4:c.7672-12320T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.931,0.001,1KG_EAS_AF,ALMS1
446384,2:73704460:C>T,NM_015120.4:c.7672-12301C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.387,0.0008,1KG_AFR_AF,ALMS1
446385,2:73704471:A>G,NM_015120.4:c.7672-12290A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.339,\N,\N,ALMS1
446386,2:73704475:C>G,NM_015120.4:c.7672-12286C>G,\N,\N,9/22,Benign,\N,intron_variant,5.487,0.1744,1KG_AMR_AF,ALMS1
446387,2:73704536:C>G,NM_015120.4:c.7672-12225C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.958,\N,\N,ALMS1
446388,2:73704556:A>G,NM_015120.4:c.7672-12205A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,11.02,\N,\N,ALMS1
446389,2:73704557:C>T,NM_015120.4:c.7672-12204C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.804,0.001,1KG_SAS_AF,ALMS1
446390,2:73704594:G>A,NM_015120.4:c.7672-12167G>A,\N,\N,9/22,Benign,\N,intron_variant,7.189,0.0115,1KG_AMR_AF,ALMS1
446391,2:73704611:G>A,NM_015120.4:c.7672-12150G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.19,0.0008,1KG_AFR_AF,ALMS1
446392,2:73704645:A>G,NM_015120.4:c.7672-12116A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.64,\N,\N,ALMS1
446393,2:73704649:G>C,NM_015120.4:c.7672-12112G>C,\N,\N,9/22,Benign,\N,intron_variant,1.59,0.0061,1KG_AFR_AF,ALMS1
446394,2:73704675:A>G,NM_015120.4:c.7672-12086A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.849,0.002,1KG_EAS_AF,ALMS1
446395,2:73704684:A>G,NM_015120.4:c.7672-12077A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.886,\N,\N,ALMS1
446396,2:73704688:C>G,NM_015120.4:c.7672-12073C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.34,0.0008,1KG_AFR_AF,ALMS1
446397,2:73704706:T>A,NM_015120.4:c.7672-12055T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,12.27,\N,\N,ALMS1
446398,2:73704708:G>T,NM_015120.4:c.7672-12053G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.51,\N,\N,ALMS1
446399,2:73704733:C>G,NM_015120.4:c.7672-12028C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.579,0.001,1KG_EUR_AF,ALMS1
446400,2:73704784:C>G,NM_015120.4:c.7672-11977C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.337,\N,\N,ALMS1
446401,2:73704798:A>C,NM_015120.4:c.7672-11963A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.697,\N,\N,ALMS1
446402,2:73704859:G>A,NM_015120.4:c.7672-11902G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.35,\N,\N,ALMS1
446403,2:73704879:T>A,NM_015120.4:c.7672-11882T>A,\N,\N,9/22,Benign,\N,intron_variant,10.47,0.1112,1KG_AFR_AF,ALMS1
446404,2:73704880:A>T,NM_015120.4:c.7672-11881A>T,\N,\N,9/22,Benign,\N,intron_variant,9.573,0.025,1KG_AFR_AF,ALMS1
446405,2:73704896:A>T,NM_015120.4:c.7672-11865A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,13.78,\N,\N,ALMS1
446406,2:73704912:G>A,NM_015120.4:c.7672-11849G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,14.44,\N,\N,ALMS1
446407,2:73704930:T>G,NM_015120.4:c.7672-11831T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,12.37,\N,\N,ALMS1
446408,2:73704935:G>A,NM_015120.4:c.7672-11826G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.896,0.002,1KG_EAS_AF,ALMS1
446409,2:73704949:C>T,NM_015120.4:c.7672-11812C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.8,\N,\N,ALMS1
446410,2:73704959:C>T,NM_015120.4:c.7672-11802C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.09,0.001,1KG_EAS_AF,ALMS1
446411,2:73704973:T>C,NM_015120.4:c.7672-11788T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.642,0.001,1KG_EAS_AF,ALMS1
446412,2:73705016:A>G,NM_015120.4:c.7672-11745A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.123,\N,\N,ALMS1
446413,2:73705025:A>G,NM_015120.4:c.7672-11736A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.415,\N,\N,ALMS1
446414,2:73705041:G>A,NM_015120.4:c.7672-11720G>A,\N,\N,9/22,Benign,\N,intron_variant,7.7,0.006,1KG_EAS_AF,ALMS1
446415,2:73705088:A>T,NM_015120.4:c.7672-11673A>T,\N,\N,9/22,Benign,\N,intron_variant,7.083,0.9452,1KG_AMR_AF,ALMS1
446416,2:73705135:G>A,NM_015120.4:c.7672-11626G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.6,\N,\N,ALMS1
446417,2:73705140:G>A,NM_015120.4:c.7672-11621G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,13,0.0014,1KG_AMR_AF,ALMS1
446418,2:73705199:A>G,NM_015120.4:c.7672-11562A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.336,0.001,1KG_SAS_AF,ALMS1
446419,2:73705209:A>G,NM_015120.4:c.7672-11552A>G,\N,\N,9/22,Benign,\N,intron_variant,3.1,0.0083,1KG_AFR_AF,ALMS1
446420,2:73705257:A>G,NM_015120.4:c.7672-11504A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.092,\N,\N,ALMS1
446421,2:73705303:G>A,NM_015120.4:c.7672-11458G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.346,\N,\N,ALMS1
446422,2:73705303:G>T,NM_015120.4:c.7672-11458G>T,\N,\N,9/22,Benign,\N,intron_variant,0.049,0.0371,1KG_AFR_AF,ALMS1
446423,2:73705349:C>T,NM_015120.4:c.7672-11412C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.925,0.001,1KG_EUR_AF,ALMS1
446424,2:73705399:T>A,NM_015120.4:c.7672-11362T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.1,0.001,1KG_EAS_AF,ALMS1
446425,2:73705409:T>C,NM_015120.4:c.7672-11352T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,14.61,\N,\N,ALMS1
446426,2:73705418:T>G,NM_015120.4:c.7672-11343T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,16.71,\N,\N,ALMS1
446427,2:73705489:A>G,NM_015120.4:c.7672-11272A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.333,0.001,1KG_SAS_AF,ALMS1
446428,2:73705490:T>G,NM_015120.4:c.7672-11271T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.971,\N,\N,ALMS1
446429,2:73705512:T>C,NM_015120.4:c.7672-11249T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.371,0.001,1KG_SAS_AF,ALMS1
446430,2:73705529:G>A,NM_015120.4:c.7672-11232G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.293,\N,\N,ALMS1
446431,2:73705535:A>G,NM_015120.4:c.7672-11226A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.762,\N,\N,ALMS1
446432,2:73705547:G>C,NM_015120.4:c.7672-11214G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.198,0.001,1KG_SAS_AF,ALMS1
446433,2:73705574:G>T,NM_015120.4:c.7672-11187G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.36,0.0014,1KG_AMR_AF,ALMS1
446434,2:73705625:C>G,NM_015120.4:c.7672-11136C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.207,0.0015,1KG_AFR_AF,ALMS1
446435,2:73705656:T>A,NM_015120.4:c.7672-11105T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.643,0.002,1KG_EAS_AF,ALMS1
446436,2:73705684:C>G,NM_015120.4:c.7672-11077C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.501,0.0008,1KG_AFR_AF,ALMS1
446437,2:73705702:AT>A,NM_015120.4:c.7672-11051del,\N,\N,9/22,Unknown significance,\N,intron_variant,1.519,\N,\N,ALMS1
446438,2:73705714:C>G,NM_015120.4:c.7672-11047C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.242,0.002,1KG_EAS_AF,ALMS1
446439,2:73705723:T>A,NM_015120.4:c.7672-11038T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,12.95,0.001,1KG_EUR_AF,ALMS1
446440,2:73705752:C>CA,NM_015120.4:c.7672-11009_7672-11008insA,\N,\N,9/22,Benign,\N,intron_variant,11.46,0.7887,1KG_EAS_AF,ALMS1
446441,2:73705753:G>A,NM_015120.4:c.7672-11008G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.06,0.0014,1KG_AMR_AF,ALMS1
446442,2:73705783:G>GTTTA,NM_015120.4:c.7672-10950_7672-10947dup,\N,\N,9/22,Benign,\N,intron_variant,0.273,0.0098,1KG_AFR_AF,ALMS1
446443,2:73705783:GTTTA>G,NM_015120.4:c.7672-10950_7672-10947del,\N,\N,9/22,Benign,\N,intron_variant,4.4,0.7917,1KG_EAS_AF,ALMS1
446444,2:73705783:GTTTATTTA>G,NM_015120.4:c.7672-10954_7672-10947del,\N,\N,9/22,Unknown significance,\N,intron_variant,3.724,\N,\N,ALMS1
446445,2:73705783:GTTTATTTATTTA>G,NM_015120.4:c.7672-10958_7672-10947del,\N,\N,9/22,Benign,\N,intron_variant,3.048,0.0106,1KG_AFR_AF,ALMS1
446446,2:73705787:A>G,NM_015120.4:c.7672-10974A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.817,\N,\N,ALMS1
446447,2:73705836:T>C,NM_015120.4:c.7672-10925T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,11.35,\N,\N,ALMS1
446448,2:73705845:C>T,NM_015120.4:c.7672-10916C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,12.62,0.0008,1KG_AFR_AF,ALMS1
446449,2:73705861:A>G,NM_015120.4:c.7672-10900A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,13,\N,\N,ALMS1
446450,2:73705862:C>T,NM_015120.4:c.7672-10899C>T,\N,\N,9/22,Benign,\N,intron_variant,11.17,0.005,1KG_EAS_AF,ALMS1
446451,2:73705866:T>C,NM_015120.4:c.7672-10895T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,13.06,0.0029,1KG_AMR_AF,ALMS1
446452,2:73705909:T>C,NM_015120.4:c.7672-10852T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,10.7,\N,\N,ALMS1
446453,2:73705986:G>A,NM_015120.4:c.7672-10775G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.038,0.001,1KG_EAS_AF,ALMS1
446454,2:73705990:C>T,NM_015120.4:c.7672-10771C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.71,\N,\N,ALMS1
446455,2:73706006:C>G,NM_015120.4:c.7672-10755C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.344,0.0008,1KG_AFR_AF,ALMS1
446456,2:73706040:C>T,NM_015120.4:c.7672-10721C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.01,0.0008,1KG_AFR_AF,ALMS1
446457,2:73706061:G>A,NM_015120.4:c.7672-10700G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.841,\N,\N,ALMS1
446458,2:73706093:T>A,NM_015120.4:c.7672-10668T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,13.04,\N,\N,ALMS1
446459,2:73706123:A>G,NM_015120.4:c.7672-10638A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.347,0.0008,1KG_AFR_AF,ALMS1
446460,2:73706126:T>A,NM_015120.4:c.7672-10635T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,7.502,\N,\N,ALMS1
446461,2:73706138:A>G,NM_015120.4:c.7672-10623A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.741,\N,\N,ALMS1
446462,2:73706170:T>C,NM_015120.4:c.7672-10591T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,9.175,\N,\N,ALMS1
446463,2:73706179:G>A,NM_015120.4:c.7672-10582G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.869,\N,\N,ALMS1
446464,2:73706182:T>G,NM_015120.4:c.7672-10579T>G,\N,\N,9/22,Benign,\N,intron_variant,9.91,0.1853,1KG_AFR_AF,ALMS1
446465,2:73706226:A>G,NM_015120.4:c.7672-10535A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.839,0.001,1KG_EAS_AF,ALMS1
446466,2:73706227:A>C,NM_015120.4:c.7672-10534A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.999,0.0041,1KG_SAS_AF,ALMS1
446467,2:73706238:T>C,NM_015120.4:c.7672-10523T>C,\N,\N,9/22,Benign,\N,intron_variant,1.862,0.008,1KG_EUR_AF,ALMS1
446468,2:73706245:TGTTA>T,NM_015120.4:c.7672-10512_7672-10509del,\N,\N,9/22,Unknown significance,\N,intron_variant,6.621,0.0023,1KG_AFR_AF,ALMS1
446469,2:73706257:C>A,NM_015120.4:c.7672-10504C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.878,\N,\N,ALMS1
446470,2:73706262:G>A,NM_015120.4:c.7672-10499G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.21,\N,\N,ALMS1
446471,2:73706263:G>A,NM_015120.4:c.7672-10498G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.282,\N,\N,ALMS1
446472,2:73706263:G>GT,NM_015120.4:c.7672-10497dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446473,2:73706272:T>A,NM_015120.4:c.7672-10489T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.22,0.001,1KG_SAS_AF,ALMS1
446474,2:73706278:T>A,NM_015120.4:c.7672-10483T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.74,0.001,1KG_EAS_AF,ALMS1
446475,2:73706281:G>C,NM_015120.4:c.7672-10480G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.477,\N,\N,ALMS1
446476,2:73706316:A>G,NM_015120.4:c.7672-10445A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.339,0.0008,1KG_AFR_AF,ALMS1
446477,2:73706335:G>T,NM_015120.4:c.7672-10426G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.767,\N,\N,ALMS1
446478,2:73706339:T>C,NM_015120.4:c.7672-10422T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.926,0.003,1KG_EAS_AF,ALMS1
446479,2:73706351:T>G,NM_015120.4:c.7672-10410T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.933,0.001,1KG_EUR_AF,ALMS1
446480,2:73706363:C>T,NM_015120.4:c.7672-10398C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.469,\N,\N,ALMS1
446481,2:73706364:C>A,NM_015120.4:c.7672-10397C>A,\N,\N,9/22,Benign,\N,intron_variant,2.339,0.0051,1KG_SAS_AF,ALMS1
446482,2:73706389:T>C,NM_015120.4:c.7672-10372T>C,\N,\N,9/22,Benign,\N,intron_variant,1.756,0.0149,1KG_EAS_AF,ALMS1
446483,2:73706414:G>A,NM_015120.4:c.7672-10347G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.515,\N,\N,ALMS1
446484,2:73706415:T>G,NM_015120.4:c.7672-10346T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.791,0.001,1KG_EAS_AF,ALMS1
446485,2:73706421:T>C,NM_015120.4:c.7672-10340T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.726,0.0041,1KG_SAS_AF,ALMS1
446486,2:73706425:T>C,NM_015120.4:c.7672-10336T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,5.494,\N,\N,ALMS1
446487,2:73706432:A>G,NM_015120.4:c.7672-10329A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.832,0.001,1KG_EUR_AF,ALMS1
446488,2:73706435:A>G,NM_015120.4:c.7672-10326A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.784,0.0014,1KG_AMR_AF,ALMS1
446489,2:73706468:C>A,NM_015120.4:c.7672-10293C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.871,\N,\N,ALMS1
446490,2:73706484:A>G,NM_015120.4:c.7672-10277A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.134,0.0008,1KG_AFR_AF,ALMS1
446491,2:73706504:T>G,NM_015120.4:c.7672-10257T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.296,\N,\N,ALMS1
446492,2:73706529:G>A,NM_015120.4:c.7672-10232G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.074,\N,\N,ALMS1
446493,2:73706529:G>C,NM_015120.4:c.7672-10232G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,5.146,0.001,1KG_EUR_AF,ALMS1
446494,2:73706543:G>T,NM_015120.4:c.7672-10218G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.888,0.001,1KG_EAS_AF,ALMS1
446495,2:73706567:A>G,NM_015120.4:c.7672-10194A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.228,0.001,1KG_EUR_AF,ALMS1
446496,2:73706574:A>C,NM_015120.4:c.7672-10187A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.501,\N,\N,ALMS1
446497,2:73706604:T>C,NM_015120.4:c.7672-10157T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.206,\N,\N,ALMS1
446498,2:73706608:A>G,NM_015120.4:c.7672-10153A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.499,\N,\N,ALMS1
446499,2:73706636:C>T,NM_015120.4:c.7672-10125C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.548,\N,\N,ALMS1
446500,2:73706647:T>C,NM_015120.4:c.7672-10114T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.38,0.001,1KG_SAS_AF,ALMS1
446501,2:73706663:G>C,NM_015120.4:c.7672-10098G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.764,\N,\N,ALMS1
446502,2:73706674:G>A,NM_015120.4:c.7672-10087G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.272,\N,\N,ALMS1
446503,2:73706695:T>C,NM_015120.4:c.7672-10066T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.403,0.002,1KG_SAS_AF,ALMS1
446504,2:73706714:A>G,NM_015120.4:c.7672-10047A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.811,\N,\N,ALMS1
446505,2:73706732:A>G,NM_015120.4:c.7672-10029A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.71,0.001,1KG_EUR_AF,ALMS1
446506,2:73706742:T>C,NM_015120.4:c.7672-10019T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,13.57,\N,\N,ALMS1
446507,2:73706748:A>G,NM_015120.4:c.7672-10013A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,14.33,0.001,1KG_EUR_AF,ALMS1
446508,2:73706755:G>C,NM_015120.4:c.7672-10006G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,11.55,\N,\N,ALMS1
446509,2:73706758:A>G,NM_015120.4:c.7672-10003A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,13.33,\N,\N,ALMS1
446510,2:73706759:T>C,NM_015120.4:c.7672-10002T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,12.62,\N,\N,ALMS1
446511,2:73706778:T>A,NM_015120.4:c.7672-9983T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.4,0.001,1KG_SAS_AF,ALMS1
446512,2:73706795:A>G,NM_015120.4:c.7672-9966A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.607,\N,\N,ALMS1
446513,2:73706797:C>A,NM_015120.4:c.7672-9964C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.239,0.0014,1KG_AMR_AF,ALMS1
446514,2:73706807:C>T,NM_015120.4:c.7672-9954C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,10.3,\N,\N,ALMS1
446515,2:73706814:A>G,NM_015120.4:c.7672-9947A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.639,\N,\N,ALMS1
446516,2:73706817:C>T,NM_015120.4:c.7672-9944C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.523,0.001,1KG_SAS_AF,ALMS1
446517,2:73706859:G>T,NM_015120.4:c.7672-9902G>T,\N,\N,9/22,Benign,\N,intron_variant,4.493,0.1301,1KG_AFR_AF,ALMS1
446518,2:73706869:G>A,NM_015120.4:c.7672-9892G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,8.388,0.001,1KG_EUR_AF,ALMS1
446519,2:73706885:G>A,NM_015120.4:c.7672-9876G>A,\N,\N,9/22,Benign,\N,intron_variant,5.03,0.998,1KG_EAS_AF,ALMS1
446520,2:73706892:T>A,NM_015120.4:c.7672-9869T>A,\N,\N,9/22,Benign,\N,intron_variant,12.71,0.0393,1KG_AFR_AF,ALMS1
446521,2:73706904:T>G,NM_015120.4:c.7672-9857T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,14.3,0.0008,1KG_AFR_AF,ALMS1
446522,2:73706982:G>A,NM_015120.4:c.7672-9779G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.953,0.001,1KG_SAS_AF,ALMS1
446523,2:73706983:T>C,NM_015120.4:c.7672-9778T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.771,\N,\N,ALMS1
446524,2:73707003:G>T,NM_015120.4:c.7672-9758G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.171,0.0014,1KG_AMR_AF,ALMS1
446525,2:73707071:T>C,NM_015120.4:c.7672-9690T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.944,0.002,1KG_SAS_AF,ALMS1
446526,2:73707078:T>C,NM_015120.4:c.7672-9683T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.129,0.0008,1KG_AFR_AF,ALMS1
446527,2:73707081:A>G,NM_015120.4:c.7672-9680A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.194,0.001,1KG_SAS_AF,ALMS1
446528,2:73707098:T>C,NM_015120.4:c.7672-9663T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.946,\N,\N,ALMS1
446529,2:73707142:C>T,NM_015120.4:c.7672-9619C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.57,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ALMS1
446530,2:73707199:A>T,NM_015120.4:c.7672-9562A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.178,0.001,1KG_EAS_AF,ALMS1
446531,2:73707317:A>G,NM_015120.4:c.7672-9444A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.746,0.0038,1KG_AFR_AF,ALMS1
446532,2:73707335:T>C,NM_015120.4:c.7672-9426T>C,\N,\N,9/22,Benign,\N,intron_variant,2.34,0.7887,1KG_EAS_AF,ALMS1
446533,2:73707337:A>G,NM_015120.4:c.7672-9424A>G,\N,\N,9/22,Benign,\N,intron_variant,3.529,0.0082,1KG_SAS_AF,ALMS1
446534,2:73707344:C>T,NM_015120.4:c.7672-9417C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.151,0.0015,1KG_AFR_AF,ALMS1
446535,2:73707379:G>T,NM_015120.4:c.7672-9382G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.524,0.0015,1KG_AFR_AF,ALMS1
446536,2:73707397:C>T,NM_015120.4:c.7672-9364C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.127,\N,\N,ALMS1
446537,2:73707424:A>G,NM_015120.4:c.7672-9337A>G,\N,\N,9/22,Benign,\N,intron_variant,3.596,0.0061,1KG_SAS_AF,ALMS1
446538,2:73707552:A>G,NM_015120.4:c.7672-9209A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.387,0.002,1KG_EAS_AF,ALMS1
446539,2:73707571:A>G,NM_015120.4:c.7672-9190A>G,\N,\N,9/22,Benign,\N,intron_variant,2.285,0.0121,1KG_AFR_AF,ALMS1
446540,2:73707576:C>G,NM_015120.4:c.7672-9185C>G,\N,\N,9/22,Benign,\N,intron_variant,2.174,0.0461,1KG_AFR_AF,ALMS1
446541,2:73707596:C>G,NM_015120.4:c.7672-9165C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.655,\N,\N,ALMS1
446542,2:73707600:A>C,NM_015120.4:c.7672-9161A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.855,\N,\N,ALMS1
446543,2:73707664:C>T,NM_015120.4:c.7672-9097C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.356,0.002,1KG_SAS_AF,ALMS1
446544,2:73707693:T>C,NM_015120.4:c.7672-9068T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.683,\N,\N,ALMS1
446545,2:73707863:T>C,NM_015120.4:c.7672-8898T>C,\N,\N,9/22,Benign,\N,intron_variant,2.328,0.0099,1KG_EUR_AF,ALMS1
446546,2:73707902:G>A,NM_015120.4:c.7672-8859G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.35,0.003,1KG_AFR_AF,ALMS1
446547,2:73707951:C>G,NM_015120.4:c.7672-8810C>G,\N,\N,9/22,Benign,\N,intron_variant,1.826,0.0098,1KG_AFR_AF,ALMS1
446548,2:73707978:T>C,NM_015120.4:c.7672-8783T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.627,\N,\N,ALMS1
446549,2:73707985:T>C,NM_015120.4:c.7672-8776T>C,\N,\N,9/22,Benign,\N,intron_variant,2.267,0.9409,1KG_AMR_AF,ALMS1
446550,2:73707995:T>C,NM_015120.4:c.7672-8766T>C,\N,\N,9/22,Benign,\N,intron_variant,2.166,0.7748,1KG_EAS_AF,ALMS1
446551,2:73708023:G>A,NM_015120.4:c.7672-8738G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.391,0.0008,1KG_AFR_AF,ALMS1
446552,2:73708029:C>T,NM_015120.4:c.7672-8732C>T,\N,\N,9/22,Benign,\N,intron_variant,2.724,0.0092,1KG_SAS_AF,ALMS1
446553,2:73708030:G>A,NM_015120.4:c.7672-8731G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.382,0.002,1KG_EAS_AF,ALMS1
446554,2:73708127:C>T,NM_015120.4:c.7672-8634C>T,\N,\N,9/22,Benign,\N,intron_variant,2.156,0.0557,1KG_EUR_AF,ALMS1
446555,2:73708269:G>C,NM_015120.4:c.7672-8492G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.471,0.0014,1KG_AMR_AF,ALMS1
446556,2:73708301:TG>T,NM_015120.4:c.7672-8459del,\N,\N,9/22,Benign,\N,intron_variant,4.672,0.0268,1KG_EUR_AF,ALMS1
446557,2:73708333:T>G,NM_015120.4:c.7672-8428T>G,\N,\N,9/22,Benign,\N,intron_variant,3.069,0.6097,1KG_AFR_AF,ALMS1
446558,2:73708336:A>G,NM_015120.4:c.7672-8425A>G,\N,\N,9/22,Benign,\N,intron_variant,3.127,0.1785,1KG_AFR_AF,ALMS1
446559,2:73708361:A>G,NM_015120.4:c.7672-8400A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.483,0.001,1KG_SAS_AF,ALMS1
446560,2:73708371:A>G,NM_015120.4:c.7672-8390A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.954,0.0015,1KG_AFR_AF,ALMS1
446561,2:73708384:G>A,NM_015120.4:c.7672-8377G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.939,0.001,1KG_EUR_AF,ALMS1
446562,2:73708424:C>G,NM_015120.4:c.7672-8337C>G,\N,\N,9/22,Benign,\N,intron_variant,2.7,0.085,1KG_AMR_AF,ALMS1
446563,2:73708522:T>G,NM_015120.4:c.7672-8239T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.161,0.001,1KG_SAS_AF,ALMS1
446564,2:73708523:G>A,NM_015120.4:c.7672-8238G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.856,\N,\N,ALMS1
446565,2:73708675:T>G,NM_015120.4:c.7672-8086T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.572,\N,\N,ALMS1
446566,2:73708745:G>T,NM_015120.4:c.7672-8016G>T,\N,\N,9/22,Benign,\N,intron_variant,1.213,0.0484,1KG_AFR_AF,ALMS1
446567,2:73708783:G>A,NM_015120.4:c.7672-7978G>A,\N,\N,9/22,Benign,\N,intron_variant,3.531,0.8555,1KG_AFR_AF,ALMS1
446568,2:73708812:G>A,NM_015120.4:c.7672-7949G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.195,\N,\N,ALMS1
446569,2:73708884:T>C,NM_015120.4:c.7672-7877T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.29,\N,\N,ALMS1
446570,2:73708897:T>A,NM_015120.4:c.7672-7864T>A,\N,\N,9/22,Benign,\N,intron_variant,6.17,0.7877,1KG_EAS_AF,ALMS1
446571,2:73708943:G>A,NM_015120.4:c.7672-7818G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.031,\N,\N,ALMS1
446572,2:73708954:C>T,NM_015120.4:c.7672-7807C>T,\N,\N,9/22,Benign,\N,intron_variant,3.883,0.0092,1KG_SAS_AF,ALMS1
446573,2:73708961:A>G,NM_015120.4:c.7672-7800A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.777,\N,\N,ALMS1
446574,2:73708996:CTCTCTGTT>C,NM_015120.4:c.7672-7763_7672-7756del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446575,2:73709004:T>C,NM_015120.4:c.7672-7757T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.486,0.001,1KG_EAS_AF,ALMS1
446576,2:73709026:G>A,NM_015120.4:c.7672-7735G>A,\N,\N,9/22,Benign,\N,intron_variant,4.054,0.1838,1KG_AFR_AF,ALMS1
446577,2:73709026:G>C,NM_015120.4:c.7672-7735G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.579,0.0015,1KG_AFR_AF,ALMS1
446578,2:73709113:G>A,NM_015120.4:c.7672-7648G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.587,\N,\N,ALMS1
446579,2:73709124:T>C,NM_015120.4:c.7672-7637T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.422,0.001,1KG_SAS_AF,ALMS1
446580,2:73709126:G>A,NM_015120.4:c.7672-7635G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.995,\N,\N,ALMS1
446581,2:73709165:C>G,NM_015120.4:c.7672-7596C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.869,\N,\N,ALMS1
446582,2:73709216:C>T,NM_015120.4:c.7672-7545C>T,\N,\N,9/22,Benign,\N,intron_variant,4.292,0.0239,1KG_EUR_AF,ALMS1
446583,2:73709220:G>C,NM_015120.4:c.7672-7541G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.976,0.002,1KG_EAS_AF,ALMS1
446584,2:73709234:A>G,NM_015120.4:c.7672-7527A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.919,\N,\N,ALMS1
446585,2:73709238:C>T,NM_015120.4:c.7672-7523C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.559,\N,\N,ALMS1
446586,2:73709282:C>A,NM_015120.4:c.7672-7479C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.031,0.001,1KG_SAS_AF,ALMS1
446587,2:73709283:G>A,NM_015120.4:c.7672-7478G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.538,\N,\N,ALMS1
446588,2:73709283:G>T,NM_015120.4:c.7672-7478G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.055,0.0014,1KG_AMR_AF,ALMS1
446589,2:73709289:C>T,NM_015120.4:c.7672-7472C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.157,\N,\N,ALMS1
446590,2:73709294:G>A,NM_015120.4:c.7672-7467G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.965,0.001,1KG_EAS_AF,ALMS1
446591,2:73709297:A>G,NM_015120.4:c.7672-7464A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.161,0.0008,1KG_AFR_AF,ALMS1
446592,2:73709314:G>A,NM_015120.4:c.7672-7447G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.903,0.001,1KG_EUR_AF,ALMS1
446593,2:73709353:A>G,NM_015120.4:c.7672-7408A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.848,0.0031,1KG_SAS_AF,ALMS1
446594,2:73709358:T>C,NM_015120.4:c.7672-7403T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.782,0.001,1KG_SAS_AF,ALMS1
446595,2:73709361:T>G,NM_015120.4:c.7672-7400T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.375,\N,\N,ALMS1
446596,2:73709376:C>T,NM_015120.4:c.7672-7385C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.562,\N,\N,ALMS1
446597,2:73709387:C>G,NM_015120.4:c.7672-7374C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.201,0.001,1KG_EUR_AF,ALMS1
446598,2:73709392:C>T,NM_015120.4:c.7672-7369C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.723,\N,\N,ALMS1
446599,2:73709404:T>A,NM_015120.4:c.7672-7357T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.572,0.0008,1KG_AFR_AF,ALMS1
446600,2:73709416:T>A,NM_015120.4:c.7672-7345T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,7.069,\N,\N,ALMS1
446601,2:73709439:T>C,NM_015120.4:c.7672-7322T>C,\N,\N,9/22,Benign,\N,intron_variant,2.703,0.1225,1KG_AFR_AF,ALMS1
446602,2:73709449:T>C,NM_015120.4:c.7672-7312T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.799,0.0014,1KG_AMR_AF,ALMS1
446603,2:73709452:A>G,NM_015120.4:c.7672-7309A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.107,\N,\N,ALMS1
446604,2:73709459:A>T,NM_015120.4:c.7672-7302A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.805,\N,\N,ALMS1
446605,2:73709477:C>G,NM_015120.4:c.7672-7284C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.012,0.002,1KG_EUR_AF,ALMS1
446606,2:73709483:C>T,NM_015120.4:c.7672-7278C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.626,\N,\N,ALMS1
446607,2:73709510:T>G,NM_015120.4:c.7672-7251T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.02,\N,\N,ALMS1
446608,2:73709519:A>G,NM_015120.4:c.7672-7242A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.313,\N,\N,ALMS1
446609,2:73709529:C>G,NM_015120.4:c.7672-7232C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.948,0.002,1KG_SAS_AF,ALMS1
446610,2:73709565:A>ATGGTGGATAAGCTTTTCGGTGTGC,NM_015120.4:c.7672-7193_7672-7170dup,\N,\N,9/22,Unknown significance,\N,intron_variant,0.053,\N,\N,ALMS1
446611,2:73709585:T>C,NM_015120.4:c.7672-7176T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.751,0.0008,1KG_AFR_AF,ALMS1
446612,2:73709592:C>G,NM_015120.4:c.7672-7169C>G,\N,\N,9/22,Benign,\N,intron_variant,2.326,0.005,1KG_EUR_AF,ALMS1
446613,2:73709608:A>C,NM_015120.4:c.7672-7153A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.799,0.0029,1KG_AMR_AF,ALMS1
446614,2:73709608:A>G,NM_015120.4:c.7672-7153A>G,\N,\N,9/22,Benign,\N,intron_variant,3.215,0.0194,1KG_SAS_AF,ALMS1
446615,2:73709653:G>A,NM_015120.4:c.7672-7108G>A,\N,\N,9/22,Benign,\N,intron_variant,3.212,0.0666,1KG_AFR_AF,ALMS1
446616,2:73709667:T>G,NM_015120.4:c.7672-7094T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.114,0.001,1KG_EUR_AF,ALMS1
446617,2:73709671:T>G,NM_015120.4:c.7672-7090T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.881,0.001,1KG_SAS_AF,ALMS1
446618,2:73709673:T>G,NM_015120.4:c.7672-7088T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.831,\N,\N,ALMS1
446619,2:73709683:C>T,NM_015120.4:c.7672-7078C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.067,0.001,1KG_EAS_AF,ALMS1
446620,2:73709688:T>C,NM_015120.4:c.7672-7073T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.474,\N,\N,ALMS1
446621,2:73709724:A>T,NM_015120.4:c.7672-7037A>T,\N,\N,9/22,Benign,\N,intron_variant,1.284,0.0072,1KG_AMR_AF,ALMS1
446622,2:73709733:G>A,NM_015120.4:c.7672-7028G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.914,0.0041,1KG_SAS_AF,ALMS1
446623,2:73709751:C>T,NM_015120.4:c.7672-7010C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.505,\N,\N,ALMS1
446624,2:73709753:T>C,NM_015120.4:c.7672-7008T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.2,0.0008,1KG_AFR_AF,ALMS1
446625,2:73709759:G>C,NM_015120.4:c.7672-7002G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.694,0.001,1KG_EUR_AF,ALMS1
446626,2:73709764:A>C,NM_015120.4:c.7672-6997A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.5,\N,\N,ALMS1
446627,2:73709774:G>A,NM_015120.4:c.7672-6987G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.932,\N,\N,ALMS1
446628,2:73709792:T>C,NM_015120.4:c.7672-6969T>C,\N,\N,9/22,Benign,\N,intron_variant,2.225,0.0109,1KG_EUR_AF,ALMS1
446629,2:73709805:G>A,NM_015120.4:c.7672-6956G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.695,0.001,1KG_EUR_AF,ALMS1
446630,2:73709820:T>G,NM_015120.4:c.7672-6941T>G,\N,\N,9/22,Benign,\N,intron_variant,4.733,0.0099,1KG_EUR_AF,ALMS1
446631,2:73709831:G>A,NM_015120.4:c.7672-6930G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.621,0.0014,1KG_AMR_AF,ALMS1
446632,2:73709861:T>C,NM_015120.4:c.7672-6900T>C,\N,\N,9/22,Benign,\N,intron_variant,2.873,0.0068,1KG_AFR_AF,ALMS1
446633,2:73709882:A>C,NM_015120.4:c.7672-6879A>C,\N,\N,9/22,Benign,\N,intron_variant,1.265,0.0083,1KG_AFR_AF,ALMS1
446634,2:73709901:C>A,NM_015120.4:c.7672-6860C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.729,0.0014,1KG_AMR_AF,ALMS1
446635,2:73709937:A>G,NM_015120.4:c.7672-6824A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.416,\N,\N,ALMS1
446636,2:73709951:G>A,NM_015120.4:c.7672-6810G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.193,\N,\N,ALMS1
446637,2:73709969:C>A,NM_015120.4:c.7672-6792C>A,\N,\N,9/22,Benign,\N,intron_variant,3.324,0.134,1KG_AMR_AF,ALMS1
446638,2:73710058:T>C,NM_015120.4:c.7672-6703T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.476,\N,\N,ALMS1
446639,2:73710094:CT>C,NM_015120.4:c.7672-6660del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446640,2:73710096:T>C,NM_015120.4:c.7672-6665T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.909,0.0014,1KG_AMR_AF,ALMS1
446641,2:73710106:A>G,NM_015120.4:c.7672-6655A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.615,0.001,1KG_SAS_AF,ALMS1
446642,2:73710133:A>T,NM_015120.4:c.7672-6628A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.121,0.0008,1KG_AFR_AF,ALMS1
446643,2:73710136:C>G,NM_015120.4:c.7672-6625C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.245,0.001,1KG_EUR_AF,ALMS1
446644,2:73710138:T>G,NM_015120.4:c.7672-6623T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.726,0.0008,1KG_AFR_AF,ALMS1
446645,2:73710267:T>C,NM_015120.4:c.7672-6494T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.454,\N,\N,ALMS1
446646,2:73710327:G>T,NM_015120.4:c.7672-6434G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.272,\N,\N,ALMS1
446647,2:73710433:A>G,NM_015120.4:c.7672-6328A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.202,\N,\N,ALMS1
446648,2:73710477:C>G,NM_015120.4:c.7672-6284C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.858,\N,\N,ALMS1
446649,2:73710565:T>G,NM_015120.4:c.7672-6196T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.69,0.001,1KG_EAS_AF,ALMS1
446650,2:73711119:A>T,NM_015120.4:c.7672-5642A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.455,\N,\N,ALMS1
446651,2:73711131:T>G,NM_015120.4:c.7672-5630T>G,\N,\N,9/22,Benign,\N,intron_variant,1.21,0.0058,1KG_AMR_AF,ALMS1
446652,2:73711166:T>G,NM_015120.4:c.7672-5595T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.341,\N,\N,ALMS1
446653,2:73711362:T>C,NM_015120.4:c.7672-5399T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.436,\N,\N,ALMS1
446654,2:73711395:A>G,NM_015120.4:c.7672-5366A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.681,\N,\N,ALMS1
446655,2:73711470:G>C,NM_015120.4:c.7672-5291G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.115,\N,\N,ALMS1
446656,2:73711533:C>G,NM_015120.4:c.7672-5228C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.512,\N,\N,ALMS1
446657,2:73711560:C>T,NM_015120.4:c.7672-5201C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.264,\N,\N,ALMS1
446658,2:73711597:T>A,NM_015120.4:c.7672-5164T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.401,\N,\N,ALMS1
446659,2:73711604:T>C,NM_015120.4:c.7672-5157T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.536,0.0008,1KG_AFR_AF,ALMS1
446660,2:73711609:C>T,NM_015120.4:c.7672-5152C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.417,\N,\N,ALMS1
446661,2:73711625:T>C,NM_015120.4:c.7672-5136T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.409,0.001,1KG_EAS_AF,ALMS1
446662,2:73711722:G>A,NM_015120.4:c.7672-5039G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.622,\N,\N,ALMS1
446663,2:73711775:T>C,NM_015120.4:c.7672-4986T>C,\N,\N,9/22,Benign,\N,intron_variant,0.51,0.6112,1KG_AFR_AF,ALMS1
446664,2:73711821:C>T,NM_015120.4:c.7672-4940C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.149,0.004,1KG_EUR_AF,ALMS1
446665,2:73711822:A>G,NM_015120.4:c.7672-4939A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.913,0.0043,1KG_AMR_AF,ALMS1
446666,2:73711911:T>C,NM_015120.4:c.7672-4850T>C,\N,\N,9/22,Benign,\N,intron_variant,0.202,0.7857,1KG_EAS_AF,ALMS1
446667,2:73711911:T>G,NM_015120.4:c.7672-4850T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.343,\N,\N,ALMS1
446668,2:73711917:C>G,NM_015120.4:c.7672-4844C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.585,0.0008,1KG_AFR_AF,ALMS1
446669,2:73711934:C>T,NM_015120.4:c.7672-4827C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.244,0.0045,1KG_AFR_AF,ALMS1
446670,2:73711953:C>T,NM_015120.4:c.7672-4808C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1,0.002,1KG_EAS_AF,ALMS1
446671,2:73711964:G>A,NM_015120.4:c.7672-4797G>A,\N,\N,9/22,Benign,\N,intron_variant,0.546,0.6036,1KG_AFR_AF,ALMS1
446672,2:73711984:T>G,NM_015120.4:c.7672-4777T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.111,\N,\N,ALMS1
446673,2:73711991:C>T,NM_015120.4:c.7672-4770C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.362,0.001,1KG_EAS_AF,ALMS1
446674,2:73711995:G>A,NM_015120.4:c.7672-4766G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.669,\N,\N,ALMS1
446675,2:73711997:C>T,NM_015120.4:c.7672-4764C>T,\N,\N,9/22,Benign,\N,intron_variant,1.318,0.1369,1KG_AMR_AF,ALMS1
446676,2:73712021:C>T,NM_015120.4:c.7672-4740C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.309,0.001,1KG_EUR_AF,ALMS1
446677,2:73712024:A>G,NM_015120.4:c.7672-4737A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.237,0.0008,1KG_AFR_AF,ALMS1
446678,2:73712033:G>C,NM_015120.4:c.7672-4728G>C,\N,\N,9/22,Benign,\N,intron_variant,0.116,0.128,1KG_EAS_AF,ALMS1
446679,2:73712050:C>T,NM_015120.4:c.7672-4711C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.168,\N,\N,ALMS1
446680,2:73712074:T>C,NM_015120.4:c.7672-4687T>C,\N,\N,9/22,Benign,\N,intron_variant,0.373,0.0051,1KG_SAS_AF,ALMS1
446681,2:73712128:T>A,NM_015120.4:c.7672-4633T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.394,0.001,1KG_EAS_AF,ALMS1
446682,2:73712156:C>G,NM_015120.4:c.7672-4605C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.418,0.001,1KG_SAS_AF,ALMS1
446683,2:73712177:C>T,NM_015120.4:c.7672-4584C>T,\N,\N,9/22,Benign,\N,intron_variant,1.083,0.0102,1KG_SAS_AF,ALMS1
446684,2:73712178:G>A,NM_015120.4:c.7672-4583G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.526,0.003,1KG_AFR_AF,ALMS1
446685,2:73712255:T>G,NM_015120.4:c.7672-4506T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.167,\N,\N,ALMS1
446686,2:73712256:C>A,NM_015120.4:c.7672-4505C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.532,\N,\N,ALMS1
446687,2:73712273:G>A,NM_015120.4:c.7672-4488G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.761,\N,\N,ALMS1
446688,2:73712274:T>C,NM_015120.4:c.7672-4487T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.462,\N,\N,ALMS1
446689,2:73712295:C>T,NM_015120.4:c.7672-4466C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.708,0.0031,1KG_SAS_AF,ALMS1
446690,2:73712300:T>A,NM_015120.4:c.7672-4461T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.214,\N,\N,ALMS1
446691,2:73712306:C>T,NM_015120.4:c.7672-4455C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.335,0.0015,1KG_AFR_AF,ALMS1
446692,2:73712312:T>G,NM_015120.4:c.7672-4449T>G,\N,\N,9/22,Benign,\N,intron_variant,1.159,0.0514,1KG_AFR_AF,ALMS1
446693,2:73712316:T>C,NM_015120.4:c.7672-4445T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.342,\N,\N,ALMS1
446694,2:73712387:A>T,NM_015120.4:c.7672-4374A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.37,\N,\N,ALMS1
446695,2:73712408:T>A,NM_015120.4:c.7672-4353T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.05,0.001,1KG_EUR_AF,ALMS1
446696,2:73712433:C>T,NM_015120.4:c.7672-4328C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.196,0.001,1KG_EAS_AF,ALMS1
446697,2:73712434:G>A,NM_015120.4:c.7672-4327G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.883,0.001,1KG_EUR_AF,ALMS1
446698,2:73712448:G>A,NM_015120.4:c.7672-4313G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.972,\N,\N,ALMS1
446699,2:73712448:G>T,NM_015120.4:c.7672-4313G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.302,0.0029,1KG_AMR_AF,ALMS1
446700,2:73712474:G>A,NM_015120.4:c.7672-4287G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.773,0.0008,1KG_AFR_AF,ALMS1
446701,2:73712540:G>C,NM_015120.4:c.7672-4221G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.111,\N,\N,ALMS1
446702,2:73712557:G>A,NM_015120.4:c.7672-4204G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.561,\N,\N,ALMS1
446703,2:73712586:G>A,NM_015120.4:c.7672-4175G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.652,\N,\N,ALMS1
446704,2:73712597:C>G,NM_015120.4:c.7672-4164C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.562,0.0029,1KG_AMR_AF,ALMS1
446705,2:73712642:C>G,NM_015120.4:c.7672-4119C>G,\N,\N,9/22,Benign,\N,intron_variant,0.61,0.7857,1KG_EAS_AF,ALMS1
446706,2:73712670:C>G,NM_015120.4:c.7672-4091C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.478,\N,\N,ALMS1
446707,2:73712673:C>G,NM_015120.4:c.7672-4088C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.447,0.001,1KG_SAS_AF,ALMS1
446708,2:73712682:T>G,NM_015120.4:c.7672-4079T>G,\N,\N,9/22,Benign,\N,intron_variant,0.757,0.951,1KG_AMR_AF,ALMS1
446709,2:73712717:G>T,NM_015120.4:c.7672-4044G>T,\N,\N,9/22,Benign,\N,intron_variant,0.283,0.0083,1KG_AFR_AF,ALMS1
446710,2:73712735:C>G,NM_015120.4:c.7672-4026C>G,\N,\N,9/22,Benign,\N,intron_variant,0.927,0.0058,1KG_AMR_AF,ALMS1
446711,2:73712736:G>A,NM_015120.4:c.7672-4025G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.047,0.001,1KG_SAS_AF,ALMS1
446712,2:73712741:T>A,NM_015120.4:c.7672-4020T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.345,0.001,1KG_EAS_AF,ALMS1
446713,2:73712777:A>T,NM_015120.4:c.7672-3984A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.343,0.0008,1KG_AFR_AF,ALMS1
446714,2:73712783:G>A,NM_015120.4:c.7672-3978G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.638,0.0023,1KG_AFR_AF,ALMS1
446715,2:73712786:G>A,NM_015120.4:c.7672-3975G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.484,0.0015,1KG_AFR_AF,ALMS1
446716,2:73712789:C>A,NM_015120.4:c.7672-3972C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.681,\N,\N,ALMS1
446717,2:73712826:C>G,NM_015120.4:c.7672-3935C>G,\N,\N,9/22,Benign,\N,intron_variant,0.497,0.0666,1KG_AFR_AF,ALMS1
446718,2:73712837:G>A,NM_015120.4:c.7672-3924G>A,\N,\N,9/22,Benign,\N,intron_variant,0.813,0.0227,1KG_AFR_AF,ALMS1
446719,2:73712850:G>A,NM_015120.4:c.7672-3911G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.787,0.0008,1KG_AFR_AF,ALMS1
446720,2:73712866:A>G,NM_015120.4:c.7672-3895A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.414,0.0045,1KG_AFR_AF,ALMS1
446721,2:73712870:C>T,NM_015120.4:c.7672-3891C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.658,\N,\N,ALMS1
446722,2:73712879:C>T,NM_015120.4:c.7672-3882C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.576,0.001,1KG_EAS_AF,ALMS1
446723,2:73712883:G>A,NM_015120.4:c.7672-3878G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.249,0.0014,1KG_AMR_AF,ALMS1
446724,2:73712900:G>A,NM_015120.4:c.7672-3861G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.89,0.002,1KG_EAS_AF,ALMS1
446725,2:73712902:G>C,NM_015120.4:c.7672-3859G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.265,\N,\N,ALMS1
446726,2:73712909:C>T,NM_015120.4:c.7672-3852C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.859,0.0023,1KG_AFR_AF,ALMS1
446727,2:73712910:G>A,NM_015120.4:c.7672-3851G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.963,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
446728,2:73712942:C>T,NM_015120.4:c.7672-3819C>T,\N,\N,9/22,Benign,\N,intron_variant,1.893,0.0295,1KG_AFR_AF,ALMS1
446729,2:73712947:G>C,NM_015120.4:c.7672-3814G>C,\N,\N,9/22,Benign,\N,intron_variant,0.262,0.0102,1KG_SAS_AF,ALMS1
446730,2:73712950:A>G,NM_015120.4:c.7672-3811A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.282,0.0014,1KG_AMR_AF,ALMS1
446731,2:73712951:G>A,NM_015120.4:c.7672-3810G>A,\N,\N,9/22,Benign,\N,intron_variant,1.045,0.9438,1KG_AMR_AF,ALMS1
446732,2:73712962:T>C,NM_015120.4:c.7672-3799T>C,\N,\N,9/22,Benign,\N,intron_variant,0.602,0.9452,1KG_AMR_AF,ALMS1
446733,2:73712971:C>A,NM_015120.4:c.7672-3790C>A,\N,\N,9/22,Benign,\N,intron_variant,1.62,0.0106,1KG_AFR_AF,ALMS1
446734,2:73712972:G>A,NM_015120.4:c.7672-3789G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.845,0.001,1KG_SAS_AF,ALMS1
446735,2:73712976:G>A,NM_015120.4:c.7672-3785G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.706,0.001,1KG_EUR_AF,ALMS1
446736,2:73712991:G>C,NM_015120.4:c.7672-3770G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.164,\N,\N,ALMS1
446737,2:73712995:A>C,NM_015120.4:c.7672-3766A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.479,0.002,1KG_EUR_AF,ALMS1
446738,2:73713021:C>G,NM_015120.4:c.7672-3740C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.516,0.0008,1KG_AFR_AF,ALMS1
446739,2:73713023:C>G,NM_015120.4:c.7672-3738C>G,\N,\N,9/22,Benign,\N,intron_variant,0.859,0.062,1KG_AMR_AF,ALMS1
446740,2:73713029:A>G,NM_015120.4:c.7672-3732A>G,\N,\N,9/22,Benign,\N,intron_variant,1.053,0.7201,1KG_AFR_AF,ALMS1
446741,2:73713029:AA>GG,NM_015120.4:c.7672-3732_7672-3731delinsGG,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446742,2:73713030:A>G,NM_015120.4:c.7672-3731A>G,\N,\N,9/22,Benign,\N,intron_variant,1.116,0.7201,1KG_AFR_AF,ALMS1
446743,2:73713036:G>A,NM_015120.4:c.7672-3725G>A,\N,\N,9/22,Benign,\N,intron_variant,1.352,0.0153,1KG_SAS_AF,ALMS1
446744,2:73713045:T>C,NM_015120.4:c.7672-3716T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.81,0.001,1KG_EUR_AF,ALMS1
446745,2:73713056:G>A,NM_015120.4:c.7672-3705G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.592,\N,\N,ALMS1
446746,2:73713066:C>T,NM_015120.4:c.7672-3695C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.182,\N,\N,ALMS1
446747,2:73713072:G>A,NM_015120.4:c.7672-3689G>A,\N,\N,9/22,Benign,\N,intron_variant,0.949,0.4418,1KG_AFR_AF,ALMS1
446748,2:73713073:C>CT,NM_015120.4:c.7672-3688_7672-3687insT,\N,\N,9/22,Unknown significance,\N,intron_variant,1.764,\N,\N,ALMS1
446749,2:73713073:C>T,NM_015120.4:c.7672-3688C>T,\N,\N,9/22,Benign,\N,intron_variant,1.658,0.0208,1KG_EAS_AF,ALMS1
446750,2:73713092:C>T,NM_015120.4:c.7672-3669C>T,\N,\N,9/22,Benign,\N,intron_variant,2.181,0.1311,1KG_AMR_AF,ALMS1
446751,2:73713093:C>T,NM_015120.4:c.7672-3668C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.708,\N,\N,ALMS1
446752,2:73713103:C>G,NM_015120.4:c.7672-3658C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.865,0.001,1KG_EAS_AF,ALMS1
446753,2:73713108:C>T,NM_015120.4:c.7672-3653C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.925,0.001,1KG_EAS_AF,ALMS1
446754,2:73713112:G>T,NM_015120.4:c.7672-3649G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.388,\N,\N,ALMS1
446755,2:73713113:T>G,NM_015120.4:c.7672-3648T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.991,0.0008,1KG_AFR_AF,ALMS1
446756,2:73713144:C>T,NM_015120.4:c.7672-3617C>T,\N,\N,9/22,Benign,\N,intron_variant,1.164,0.0099,1KG_EAS_AF,ALMS1
446757,2:73713155:G>A,NM_015120.4:c.7672-3606G>A,\N,\N,9/22,Benign,\N,intron_variant,0.621,0.0051,1KG_SAS_AF,ALMS1
446758,2:73713163:C>T,NM_015120.4:c.7672-3598C>T,\N,\N,9/22,Benign,\N,intron_variant,1.271,0.0143,1KG_SAS_AF,ALMS1
446759,2:73713173:G>T,NM_015120.4:c.7672-3588G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.214,0.001,1KG_SAS_AF,ALMS1
446760,2:73713175:T>TG,NM_015120.4:c.7672-3583dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446761,2:73713180:G>A,NM_015120.4:c.7672-3581G>A,\N,\N,9/22,Benign,\N,intron_variant,0.913,0.0461,1KG_AFR_AF,ALMS1
446762,2:73713206:G>T,NM_015120.4:c.7672-3555G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.358,0.0008,1KG_AFR_AF,ALMS1
446763,2:73713208:C>T,NM_015120.4:c.7672-3553C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.564,\N,\N,ALMS1
446764,2:73713225:C>T,NM_015120.4:c.7672-3536C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.639,\N,\N,ALMS1
446765,2:73713227:T>G,NM_015120.4:c.7672-3534T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.247,0.001,1KG_EAS_AF,ALMS1
446766,2:73713276:T>A,NM_015120.4:c.7672-3485T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.533,0.001,1KG_SAS_AF,ALMS1
446767,2:73713289:A>T,NM_015120.4:c.7672-3472A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.042,0.0014,1KG_AMR_AF,ALMS1
446768,2:73713311:G>A,NM_015120.4:c.7672-3450G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.546,0.002,1KG_SAS_AF,ALMS1
446769,2:73713324:C>T,NM_015120.4:c.7672-3437C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.01,0.0014,1KG_AMR_AF,ALMS1
446770,2:73713334:A>T,NM_015120.4:c.7672-3427A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.418,\N,\N,ALMS1
446771,2:73713357:C>A,NM_015120.4:c.7672-3404C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.091,0.0014,1KG_AMR_AF,ALMS1
446772,2:73713370:G>A,NM_015120.4:c.7672-3391G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.127,0.0008,1KG_AFR_AF,ALMS1
446773,2:73713374:C>G,NM_015120.4:c.7672-3387C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.317,0.001,1KG_EAS_AF,ALMS1
446774,2:73713391:GA>G,NM_015120.4:c.7672-3369del,\N,\N,9/22,Unknown significance,\N,intron_variant,0.038,0.0029,1KG_AMR_AF,ALMS1
446775,2:73713416:G>C,NM_015120.4:c.7672-3345G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.824,\N,\N,ALMS1
446776,2:73713427:C>G,NM_015120.4:c.7672-3334C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.731,0.001,1KG_SAS_AF,ALMS1
446777,2:73713429:T>C,NM_015120.4:c.7672-3332T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.021,\N,\N,ALMS1
446778,2:73713430:C>T,NM_015120.4:c.7672-3331C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.395,0.004,1KG_EAS_AF,ALMS1
446779,2:73713431:G>A,NM_015120.4:c.7672-3330G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.976,0.001,1KG_EUR_AF,ALMS1
446780,2:73713431:G>C,NM_015120.4:c.7672-3330G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.087,\N,\N,ALMS1
446781,2:73713441:C>G,NM_015120.4:c.7672-3320C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.803,0.002,1KG_EAS_AF,ALMS1
446782,2:73713447:C>T,NM_015120.4:c.7672-3314C>T,\N,\N,9/22,Benign,\N,intron_variant,2.412,0.0197,1KG_AFR_AF,ALMS1
446783,2:73713459:G>C,NM_015120.4:c.7672-3302G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.187,\N,\N,ALMS1
446784,2:73713461:G>T,NM_015120.4:c.7672-3300G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.282,0.002,1KG_EAS_AF,ALMS1
446785,2:73713463:T>C,NM_015120.4:c.7672-3298T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,7.409,\N,\N,ALMS1
446786,2:73713500:T>C,NM_015120.4:c.7672-3261T>C,\N,\N,9/22,Benign,\N,intron_variant,5.105,0.4448,1KG_AFR_AF,ALMS1
446787,2:73713502:G>A,NM_015120.4:c.7672-3259G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,9.59,0.0029,1KG_AMR_AF,ALMS1
446788,2:73713545:A>G,NM_015120.4:c.7672-3216A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.617,0.0008,1KG_AFR_AF,ALMS1
446789,2:73713548:T>G,NM_015120.4:c.7672-3213T>G,\N,\N,9/22,Benign,\N,intron_variant,7.4,0.0787,1KG_AFR_AF,ALMS1
446790,2:73713560:G>C,NM_015120.4:c.7672-3201G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.594,0.0008,1KG_AFR_AF,ALMS1
446791,2:73713575:A>G,NM_015120.4:c.7672-3186A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.426,0.001,1KG_EAS_AF,ALMS1
446792,2:73713613:T>C,NM_015120.4:c.7672-3148T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.973,\N,\N,ALMS1
446793,2:73713621:A>G,NM_015120.4:c.7672-3140A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.53,0.0031,1KG_SAS_AF,ALMS1
446794,2:73713628:T>G,NM_015120.4:c.7672-3133T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.613,\N,\N,ALMS1
446795,2:73713668:T>C,NM_015120.4:c.7672-3093T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,8.336,0.0008,1KG_AFR_AF,ALMS1
446796,2:73713726:A>T,NM_015120.4:c.7672-3035A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.054,0.001,1KG_EAS_AF,ALMS1
446797,2:73713741:T>G,NM_015120.4:c.7672-3020T>G,\N,\N,9/22,Benign,\N,intron_variant,4.015,0.7905,1KG_AFR_AF,ALMS1
446798,2:73713763:C>G,NM_015120.4:c.7672-2998C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.864,0.001,1KG_EAS_AF,ALMS1
446799,2:73713782:A>G,NM_015120.4:c.7672-2979A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.728,\N,\N,ALMS1
446800,2:73713792:C>T,NM_015120.4:c.7672-2969C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.237,0.004,1KG_EAS_AF,ALMS1
446801,2:73713799:C>G,NM_015120.4:c.7672-2962C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.873,\N,\N,ALMS1
446802,2:73713835:T>C,NM_015120.4:c.7672-2926T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.629,0.0023,1KG_AFR_AF,ALMS1
446803,2:73713836:A>T,NM_015120.4:c.7672-2925A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.102,0.0014,1KG_AMR_AF,ALMS1
446804,2:73713851:G>A,NM_015120.4:c.7672-2910G>A,\N,\N,9/22,Benign,\N,intron_variant,2.052,0.005,1KG_EAS_AF,ALMS1
446805,2:73713863:C>G,NM_015120.4:c.7672-2898C>G,\N,\N,9/22,Benign,\N,intron_variant,1.714,0.7867,1KG_EAS_AF,ALMS1
446806,2:73713869:A>G,NM_015120.4:c.7672-2892A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.656,0.001,1KG_EAS_AF,ALMS1
446807,2:73713879:G>C,NM_015120.4:c.7672-2882G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.65,\N,\N,ALMS1
446808,2:73713901:C>T,NM_015120.4:c.7672-2860C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.552,\N,\N,ALMS1
446809,2:73713902:G>A,NM_015120.4:c.7672-2859G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.974,\N,\N,ALMS1
446810,2:73713918:G>A,NM_015120.4:c.7672-2843G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,11.93,0.0015,1KG_AFR_AF,ALMS1
446811,2:73713929:A>C,NM_015120.4:c.7672-2832A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,13.27,\N,\N,ALMS1
446812,2:73713962:A>T,NM_015120.4:c.7672-2799A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,14.33,0.0014,1KG_AMR_AF,ALMS1
446813,2:73713970:A>C,NM_015120.4:c.7672-2791A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,14.06,0.0015,1KG_AFR_AF,ALMS1
446814,2:73713999:A>T,NM_015120.4:c.7672-2762A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,11.77,\N,\N,ALMS1
446815,2:73714039:C>T,NM_015120.4:c.7672-2722C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,8.777,\N,\N,ALMS1
446816,2:73714040:G>A,NM_015120.4:c.7672-2721G>A,\N,\N,9/22,Benign,\N,intron_variant,8.683,0.0454,1KG_AFR_AF,ALMS1
446817,2:73714080:G>A,NM_015120.4:c.7672-2681G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,5.819,0.001,1KG_EUR_AF,ALMS1
446818,2:73714097:G>A,NM_015120.4:c.7672-2664G>A,\N,\N,9/22,Benign,\N,intron_variant,0.123,0.7897,1KG_AFR_AF,ALMS1
446819,2:73714112:G>T,NM_015120.4:c.7672-2649G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.486,\N,\N,ALMS1
446820,2:73714115:G>A,NM_015120.4:c.7672-2646G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.099,\N,\N,ALMS1
446821,2:73714122:C>T,NM_015120.4:c.7672-2639C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.46,\N,\N,ALMS1
446822,2:73714124:G>A,NM_015120.4:c.7672-2637G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.314,\N,\N,ALMS1
446823,2:73714129:AGT>A,NM_015120.4:c.7672-2630_7672-2629del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446824,2:73714138:G>T,NM_015120.4:c.7672-2623G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.929,0.0008,1KG_AFR_AF,ALMS1
446825,2:73714160:G>C,NM_015120.4:c.7672-2601G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.539,\N,\N,ALMS1
446826,2:73714174:TAAAC>T,NM_015120.4:c.7672-2583_7672-2580del,\N,\N,9/22,Unknown significance,\N,intron_variant,7.235,\N,\N,ALMS1
446827,2:73714252:G>C,NM_015120.4:c.7672-2509G>C,\N,\N,9/22,Benign,\N,intron_variant,3.198,0.0189,1KG_AFR_AF,ALMS1
446828,2:73714262:A>G,NM_015120.4:c.7672-2499A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.366,0.002,1KG_EAS_AF,ALMS1
446829,2:73714284:A>G,NM_015120.4:c.7672-2477A>G,\N,\N,9/22,Benign,\N,intron_variant,6.785,0.0061,1KG_AFR_AF,ALMS1
446830,2:73714294:G>A,NM_015120.4:c.7672-2467G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.431,0.001,1KG_EUR_AF,ALMS1
446831,2:73714298:A>G,NM_015120.4:c.7672-2463A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.173,0.0014,1KG_AMR_AF,ALMS1
446832,2:73714331:G>A,NM_015120.4:c.7672-2430G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.737,0.002,1KG_EUR_AF,ALMS1
446833,2:73714340:A>C,NM_015120.4:c.7672-2421A>C,\N,\N,9/22,Benign,\N,intron_variant,1.171,0.0219,1KG_EUR_AF,ALMS1
446834,2:73714341:C>G,NM_015120.4:c.7672-2420C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.946,\N,\N,ALMS1
446835,2:73714343:A>G,NM_015120.4:c.7672-2418A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.39,0.0029,1KG_AMR_AF,ALMS1
446836,2:73714346:C>G,NM_015120.4:c.7672-2415C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.579,\N,\N,ALMS1
446837,2:73714352:C>T,NM_015120.4:c.7672-2409C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.075,0.004,1KG_EUR_AF,ALMS1
446838,2:73714364:A>G,NM_015120.4:c.7672-2397A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.928,0.001,1KG_EAS_AF,ALMS1
446839,2:73714368:A>G,NM_015120.4:c.7672-2393A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.272,0.0008,1KG_AFR_AF,ALMS1
446840,2:73714376:G>C,NM_015120.4:c.7672-2385G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.623,\N,\N,ALMS1
446841,2:73714408:A>G,NM_015120.4:c.7672-2353A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.021,0.001,1KG_SAS_AF,ALMS1
446842,2:73714413:T>G,NM_015120.4:c.7672-2348T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.73,0.0023,1KG_AFR_AF,ALMS1
446843,2:73714421:A>G,NM_015120.4:c.7672-2340A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.296,0.0015,1KG_AFR_AF,ALMS1
446844,2:73714433:C>T,NM_015120.4:c.7672-2328C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.182,0.001,1KG_SAS_AF,ALMS1
446845,2:73714445:C>G,NM_015120.4:c.7672-2316C>G,\N,\N,9/22,Benign,\N,intron_variant,7.386,0.0242,1KG_AFR_AF,ALMS1
446846,2:73714446:T>C,NM_015120.4:c.7672-2315T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.85,\N,\N,ALMS1
446847,2:73714449:C>T,NM_015120.4:c.7672-2312C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.467,\N,\N,ALMS1
446848,2:73714450:G>T,NM_015120.4:c.7672-2311G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.119,0.001,1KG_SAS_AF,ALMS1
446849,2:73714469:G>C,NM_015120.4:c.7672-2292G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.245,0.001,1KG_EAS_AF,ALMS1
446850,2:73714472:C>G,NM_015120.4:c.7672-2289C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.945,0.001,1KG_EUR_AF,ALMS1
446851,2:73714475:G>A,NM_015120.4:c.7672-2286G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.162,\N,\N,ALMS1
446852,2:73714493:G>A,NM_015120.4:c.7672-2268G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.186,0.001,1KG_SAS_AF,ALMS1
446853,2:73714494:C>A,NM_015120.4:c.7672-2267C>A,\N,\N,9/22,Benign,\N,intron_variant,0.445,0.0204,1KG_AFR_AF,ALMS1
446854,2:73714494:C>T,NM_015120.4:c.7672-2267C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.424,0.0043,1KG_AMR_AF,ALMS1
446855,2:73714511:G>C,NM_015120.4:c.7672-2250G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.922,0.0023,1KG_AFR_AF,ALMS1
446856,2:73714528:G>C,NM_015120.4:c.7672-2233G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.035,0.0015,1KG_AFR_AF,ALMS1
446857,2:73714531:C>T,NM_015120.4:c.7672-2230C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.439,0.002,1KG_EUR_AF,ALMS1
446858,2:73714532:G>A,NM_015120.4:c.7672-2229G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.265,0.001,1KG_EAS_AF,ALMS1
446859,2:73714548:G>A,NM_015120.4:c.7672-2213G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.135,\N,\N,ALMS1
446860,2:73714556:A>G,NM_015120.4:c.7672-2205A>G,\N,\N,9/22,Benign,\N,intron_variant,2.886,0.4463,1KG_AFR_AF,ALMS1
446861,2:73714557:T>C,NM_015120.4:c.7672-2204T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.925,\N,\N,ALMS1
446862,2:73714586:C>G,NM_015120.4:c.7672-2175C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.53,\N,\N,ALMS1
446863,2:73714647:C>T,NM_015120.4:c.7672-2114C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.775,0.001,1KG_SAS_AF,ALMS1
446864,2:73714648:A>G,NM_015120.4:c.7672-2113A>G,\N,\N,9/22,Benign,\N,intron_variant,3.473,0.9438,1KG_AMR_AF,ALMS1
446865,2:73714673:C>T,NM_015120.4:c.7672-2088C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.331,\N,\N,ALMS1
446866,2:73714674:G>A,NM_015120.4:c.7672-2087G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.157,0.0014,1KG_AMR_AF,ALMS1
446867,2:73714682:A>C,NM_015120.4:c.7672-2079A>C,\N,\N,9/22,Benign,\N,intron_variant,0.007,0.0159,1KG_EUR_AF,ALMS1
446868,2:73714706:C>A,NM_015120.4:c.7672-2055C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,6.138,0.002,1KG_EAS_AF,ALMS1
446869,2:73714729:G>A,NM_015120.4:c.7672-2032G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.779,0.002,1KG_EUR_AF,ALMS1
446870,2:73714734:A>G,NM_015120.4:c.7672-2027A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.452,\N,\N,ALMS1
446871,2:73714748:T>G,NM_015120.4:c.7672-2013T>G,\N,\N,9/22,Benign,\N,intron_variant,1.657,0.0113,1KG_AFR_AF,ALMS1
446872,2:73714765:T>C,NM_015120.4:c.7672-1996T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.088,0.0015,1KG_AFR_AF,ALMS1
446873,2:73714795:C>G,NM_015120.4:c.7672-1966C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.89,0.003,1KG_AFR_AF,ALMS1
446874,2:73714805:A>G,NM_015120.4:c.7672-1956A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.781,\N,\N,ALMS1
446875,2:73714852:G>T,NM_015120.4:c.7672-1909G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.138,0.0008,1KG_AFR_AF,ALMS1
446876,2:73714856:G>A,NM_015120.4:c.7672-1905G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,10.24,\N,\N,ALMS1
446877,2:73714866:C>T,NM_015120.4:c.7672-1895C>T,\N,\N,9/22,Benign,\N,intron_variant,10.09,0.1097,1KG_AFR_AF,ALMS1
446878,2:73714933:T>C,NM_015120.4:c.7672-1828T>C,\N,\N,9/22,Benign,\N,intron_variant,0.965,0.9438,1KG_AMR_AF,ALMS1
446879,2:73714950:G>A,NM_015120.4:c.7672-1811G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.87,0.0008,1KG_AFR_AF,ALMS1
446880,2:73714952:G>A,NM_015120.4:c.7672-1809G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.436,\N,\N,ALMS1
446881,2:73714982:A>C,NM_015120.4:c.7672-1779A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,3.588,0.0008,1KG_AFR_AF,ALMS1
446882,2:73714983:C>G,NM_015120.4:c.7672-1778C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.353,\N,\N,ALMS1
446883,2:73715028:A>T,NM_015120.4:c.7672-1733A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.531,0.002,1KG_EAS_AF,ALMS1
446884,2:73715031:C>G,NM_015120.4:c.7672-1730C>G,\N,\N,9/22,Benign,\N,intron_variant,1.455,0.0051,1KG_SAS_AF,ALMS1
446885,2:73715033:C>T,NM_015120.4:c.7672-1728C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.739,\N,\N,ALMS1
446886,2:73715089:C>T,NM_015120.4:c.7672-1672C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,7.179,\N,\N,ALMS1
446887,2:73715096:C>T,NM_015120.4:c.7672-1665C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.663,0.001,1KG_EUR_AF,ALMS1
446888,2:73715116:A>G,NM_015120.4:c.7672-1645A>G,\N,\N,9/22,Benign,\N,intron_variant,2.012,0.2054,1KG_EAS_AF,ALMS1
446889,2:73715119:G>A,NM_015120.4:c.7672-1642G>A,\N,\N,9/22,Benign,\N,intron_variant,2.82,0.0189,1KG_AFR_AF,ALMS1
446890,2:73715137:A>G,NM_015120.4:c.7672-1624A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.433,\N,\N,ALMS1
446891,2:73715157:G>A,NM_015120.4:c.7672-1604G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.237,0.001,1KG_SAS_AF,ALMS1
446892,2:73715179:C>T,NM_015120.4:c.7672-1582C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.325,0.001,1KG_SAS_AF,ALMS1
446893,2:73715179:CTTTCTGCGAA>C,NM_015120.4:c.7672-1581_7672-1572del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446894,2:73715186:C>T,NM_015120.4:c.7672-1575C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.409,\N,\N,ALMS1
446895,2:73715187:G>A,NM_015120.4:c.7672-1574G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.769,\N,\N,ALMS1
446896,2:73715258:C>G,NM_015120.4:c.7672-1503C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.642,0.0008,1KG_AFR_AF,ALMS1
446897,2:73715267:GTCTGCCATC>G,NM_015120.4:c.7672-1483_7672-1475del,\N,\N,9/22,Benign,\N,intron_variant,7.468,0.0189,1KG_AFR_AF,ALMS1
446898,2:73715272:C>G,NM_015120.4:c.7672-1489C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.18,0.0008,1KG_AFR_AF,ALMS1
446899,2:73715293:C>T,NM_015120.4:c.7672-1468C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.762,0.0015,1KG_AFR_AF,ALMS1
446900,2:73715296:A>G,NM_015120.4:c.7672-1465A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.526,0.002,1KG_EUR_AF,ALMS1
446901,2:73715299:G>A,NM_015120.4:c.7672-1462G>A,\N,\N,9/22,Benign,\N,intron_variant,2.111,0.2034,1KG_EAS_AF,ALMS1
446902,2:73715301:A>G,NM_015120.4:c.7672-1460A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.308,0.0015,1KG_AFR_AF,ALMS1
446903,2:73715327:C>T,NM_015120.4:c.7672-1434C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.241,0.001,1KG_SAS_AF,ALMS1
446904,2:73715381:C>CT,NM_015120.4:c.7672-1379dup,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446905,2:73715382:T>C,NM_015120.4:c.7672-1379T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.18,0.0014,1KG_AMR_AF,ALMS1
446906,2:73715401:C>T,NM_015120.4:c.7672-1360C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.763,\N,\N,ALMS1
446907,2:73715416:C>T,NM_015120.4:c.7672-1345C>T,\N,\N,9/22,Benign,\N,intron_variant,0.095,0.0144,1KG_AMR_AF,ALMS1
446908,2:73715454:C>T,NM_015120.4:c.7672-1307C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.581,0.001,1KG_SAS_AF,ALMS1
446909,2:73715471:C>T,NM_015120.4:c.7672-1290C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.132,\N,\N,ALMS1
446910,2:73715473:C>T,NM_015120.4:c.7672-1288C>T,\N,\N,9/22,Benign,\N,intron_variant,3.546,0.2044,1KG_EAS_AF,ALMS1
446911,2:73715485:G>A,NM_015120.4:c.7672-1276G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.654,0.001,1KG_EUR_AF,ALMS1
446912,2:73715507:G>A,NM_015120.4:c.7672-1254G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.604,\N,\N,ALMS1
446913,2:73715518:G>A,NM_015120.4:c.7672-1243G>A,\N,\N,9/22,Benign,\N,intron_variant,0.482,0.0109,1KG_EUR_AF,ALMS1
446914,2:73715530:T>G,NM_015120.4:c.7672-1231T>G,\N,\N,9/22,Benign,\N,intron_variant,4.708,0.0166,1KG_AFR_AF,ALMS1
446915,2:73715531:G>T,NM_015120.4:c.7672-1230G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.96,0.001,1KG_EUR_AF,ALMS1
446916,2:73715554:C>T,NM_015120.4:c.7672-1207C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.098,0.001,1KG_SAS_AF,ALMS1
446917,2:73715584:G>A,NM_015120.4:c.7672-1177G>A,\N,\N,9/22,Benign,\N,intron_variant,3.108,0.1369,1KG_AMR_AF,ALMS1
446918,2:73715593:G>T,NM_015120.4:c.7672-1168G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.169,0.0008,1KG_AFR_AF,ALMS1
446919,2:73715597:C>T,NM_015120.4:c.7672-1164C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.776,\N,\N,ALMS1
446920,2:73715600:G>A,NM_015120.4:c.7672-1161G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.051,\N,\N,ALMS1
446921,2:73715635:T>C,NM_015120.4:c.7672-1126T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.542,0.0008,1KG_AFR_AF,ALMS1
446922,2:73715636:G>A,NM_015120.4:c.7672-1125G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,3.426,0.002,1KG_SAS_AF,ALMS1
446923,2:73715639:C>T,NM_015120.4:c.7672-1122C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.446,0.0008,1KG_AFR_AF,ALMS1
446924,2:73715647:G>C,NM_015120.4:c.7672-1114G>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.181,0.002,1KG_EAS_AF,ALMS1
446925,2:73715666:G>A,NM_015120.4:c.7672-1095G>A,\N,\N,9/22,Benign,\N,intron_variant,4.212,0.0726,1KG_AFR_AF,ALMS1
446926,2:73715685:C>T,NM_015120.4:c.7672-1076C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.243,0.001,1KG_EUR_AF,ALMS1
446927,2:73715729:C>G,NM_015120.4:c.7672-1032C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.509,0.001,1KG_SAS_AF,ALMS1
446928,2:73715737:C>T,NM_015120.4:c.7672-1024C>T,\N,\N,9/22,Benign,\N,intron_variant,0.369,0.0696,1KG_AFR_AF,ALMS1
446929,2:73715741:T>C,NM_015120.4:c.7672-1020T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.195,\N,\N,ALMS1
446930,2:73715755:C>T,NM_015120.4:c.7672-1006C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.18,\N,\N,ALMS1
446931,2:73715775:A>G,NM_015120.4:c.7672-986A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.585,\N,\N,ALMS1
446932,2:73715778:A>G,NM_015120.4:c.7672-983A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.522,0.0014,1KG_AMR_AF,ALMS1
446933,2:73715778:A>T,NM_015120.4:c.7672-983A>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.185,\N,\N,ALMS1
446934,2:73715799:G>A,NM_015120.4:c.7672-962G>A,\N,\N,9/22,Benign,\N,intron_variant,0.306,0.0576,1KG_AMR_AF,ALMS1
446935,2:73715800:G>A,NM_015120.4:c.7672-961G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.297,\N,\N,ALMS1
446936,2:73715806:C>T,NM_015120.4:c.7672-955C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,0.037,\N,\N,ALMS1
446937,2:73715807:G>A,NM_015120.4:c.7672-954G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,0.191,0.002,1KG_EUR_AF,ALMS1
446938,2:73715815:C>A,NM_015120.4:c.7672-946C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.371,0.0031,1KG_SAS_AF,ALMS1
446939,2:73715817:A>G,NM_015120.4:c.7672-944A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.178,0.0008,1KG_AFR_AF,ALMS1
446940,2:73715904:G>T,NM_015120.4:c.7672-857G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,6.631,\N,\N,ALMS1
446941,2:73715919:A>G,NM_015120.4:c.7672-842A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,6.818,0.001,1KG_EAS_AF,ALMS1
446942,2:73715930:G>A,NM_015120.4:c.7672-831G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.061,0.0008,1KG_AFR_AF,ALMS1
446943,2:73715955:A>C,NM_015120.4:c.7672-806A>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.307,0.001,1KG_EAS_AF,ALMS1
446944,2:73715958:T>C,NM_015120.4:c.7672-803T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,4.121,\N,\N,ALMS1
446945,2:73715960:A>G,NM_015120.4:c.7672-801A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.733,\N,\N,ALMS1
446946,2:73715990:A>G,NM_015120.4:c.7672-771A>G,\N,\N,9/22,Benign,\N,intron_variant,0.4,0.005,1KG_EUR_AF,ALMS1
446947,2:73715994:G>A,NM_015120.4:c.7672-767G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.058,0.003,1KG_EAS_AF,ALMS1
446948,2:73716012:G>A,NM_015120.4:c.7672-749G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.152,0.001,1KG_EAS_AF,ALMS1
446949,2:73716013:GT>G,NM_015120.4:c.7672-742del,\N,\N,9/22,Unknown significance,\N,intron_variant,1.322,\N,\N,ALMS1
446950,2:73716026:A>G,NM_015120.4:c.7672-735A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.59,0.001,1KG_EUR_AF,ALMS1
446951,2:73716033:G>T,NM_015120.4:c.7672-728G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.341,0.0041,1KG_SAS_AF,ALMS1
446952,2:73716045:T>C,NM_015120.4:c.7672-716T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,6.278,\N,\N,ALMS1
446953,2:73716054:G>T,NM_015120.4:c.7672-707G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.232,\N,\N,ALMS1
446954,2:73716116:AC>A,NM_015120.4:c.7672-644del,\N,\N,9/22,Unknown significance,\N,intron_variant,1.053,\N,\N,ALMS1
446955,2:73716118:G>A,NM_015120.4:c.7672-643G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.571,\N,\N,ALMS1
446956,2:73716121:A>G,NM_015120.4:c.7672-640A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.645,\N,\N,ALMS1
446957,2:73716123:T>C,NM_015120.4:c.7672-638T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,0.561,\N,\N,ALMS1
446958,2:73716153:T>G,NM_015120.4:c.7672-608T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.173,0.001,1KG_EUR_AF,ALMS1
446959,2:73716162:T>C,NM_015120.4:c.7672-599T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.211,0.002,1KG_EAS_AF,ALMS1
446960,2:73716169:A>G,NM_015120.4:c.7672-592A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.115,0.001,1KG_SAS_AF,ALMS1
446961,2:73716175:G>A,NM_015120.4:c.7672-586G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,2.323,0.0008,1KG_AFR_AF,ALMS1
446962,2:73716182:G>A,NM_015120.4:c.7672-579G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.808,\N,\N,ALMS1
446963,2:73716187:A>G,NM_015120.4:c.7672-574A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,4.127,0.001,1KG_EAS_AF,ALMS1
446964,2:73716192:G>A,NM_015120.4:c.7672-569G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.357,\N,\N,ALMS1
446965,2:73716273:T>G,NM_015120.4:c.7672-488T>G,\N,\N,9/22,Unknown significance,\N,intron_variant,3.547,\N,\N,ALMS1
446966,2:73716350:A>G,NM_015120.4:c.7672-411A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,2.32,\N,\N,ALMS1
446967,2:73716355:C>A,NM_015120.4:c.7672-406C>A,\N,\N,9/22,Unknown significance,\N,intron_variant,1.71,0.001,1KG_EAS_AF,ALMS1
446968,2:73716358:T>C,NM_015120.4:c.7672-403T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.449,\N,\N,ALMS1
446969,2:73716367:G>T,NM_015120.4:c.7672-394G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,2.606,\N,\N,ALMS1
446970,2:73716387:C>G,NM_015120.4:c.7672-374C>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.934,\N,\N,ALMS1
446971,2:73716433:G>T,NM_015120.4:c.7672-328G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,5.385,\N,\N,ALMS1
446972,2:73716524:T>C,NM_015120.4:c.7672-237T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,1.348,\N,\N,ALMS1
446973,2:73716525:A>C,NM_015120.4:c.7672-236A>C,\N,\N,9/22,Benign,\N,intron_variant,1.883,0.0129,1KG_AFR_AF,ALMS1
446974,2:73716526:G>T,NM_015120.4:c.7672-235G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,1.134,0.001,1KG_SAS_AF,ALMS1
446975,2:73716545:ACT>A,NM_015120.4:c.7672-211_7672-210del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446976,2:73716565:C>T,NM_015120.4:c.7672-196C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,4.455,\N,\N,ALMS1
446977,2:73716573:G>A,NM_015120.4:c.7672-188G>A,\N,\N,9/22,Unknown significance,\N,intron_variant,4.298,0.0008,1KG_AFR_AF,ALMS1
446978,2:73716613:T>C,NM_015120.4:c.7672-148T>C,\N,\N,9/22,Unknown significance,\N,intron_variant,2.725,\N,\N,ALMS1
446979,2:73716615:C>T,NM_015120.4:c.7672-146C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.915,0.0014,1KG_AMR_AF,ALMS1
446980,2:73716617:C>G,NM_015120.4:c.7672-144C>G,\N,\N,9/22,Benign,\N,intron_variant,6.426,0.0586,1KG_EUR_AF,ALMS1
446981,2:73716624:C>T,NM_015120.4:c.7672-137C>T,\N,\N,9/22,Benign,\N,intron_variant,4.777,0.0113,1KG_AFR_AF,ALMS1
446982,2:73716671:C>T,NM_015120.4:c.7672-90C>T,\N,\N,9/22,Unknown significance,\N,intron_variant,3.405,0.001,1KG_SAS_AF,ALMS1
446983,2:73716675:GGTATAAAACTGATTT>G,NM_015120.4:c.7672-68_7672-54del,\N,\N,9/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
446984,2:73716683:A>G,NM_015120.4:c.7672-78A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,5.193,0.0008,1KG_AFR_AF,ALMS1
446985,2:73716693:A>G,NM_015120.4:c.7672-68A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,1.197,\N,\N,ALMS1
446986,2:73716695:A>T,NM_015120.4:c.7672-66A>T,\N,\N,9/22,Benign,\N,intron_variant,0.16,0.0454,1KG_AFR_AF,ALMS1
446987,2:73716697:A>T,NM_015120.4:c.7672-64A>T,\N,\N,9/22,Benign,\N,intron_variant,0.359,0.0454,1KG_AFR_AF,ALMS1
446988,2:73716710:A>G,NM_015120.4:c.7672-51A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,0.314,0.000272035,EVS_AA_AF,ALMS1
446989,2:73716712:A>G,NM_015120.4:c.7672-49A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,7.507,0.000116171,EXAC_EAS_AF,ALMS1
446990,2:73716716:A>G,NM_015120.4:c.7672-45A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,8.685,0.0000150277,EXAC_NFE_AF,ALMS1
446991,2:73716719:T>A,NM_015120.4:c.7672-42T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,12.3,0.000696864,EXAC_EAS_AF,ALMS1
446992,2:73716721:G>T,NM_015120.4:c.7672-40G>T,\N,\N,9/22,Unknown significance,\N,intron_variant,9.295,0.0000150286,EXAC_NFE_AF,ALMS1
446993,2:73716722:A>G,NM_015120.4:c.7672-39A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,9.881,0.0000150277,EXAC_NFE_AF,ALMS1
446994,2:73716725:A>G,NM_015120.4:c.7672-36A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,10.69,0.000015024,EXAC_NFE_AF,ALMS1
446995,2:73716733:T>A,NM_015120.4:c.7672-28T>A,\N,\N,9/22,Unknown significance,\N,intron_variant,19.49,0.00015124,EXAC_FIN_AF,ALMS1
446996,2:73716734:A>G,NM_015120.4:c.7672-27A>G,\N,\N,9/22,Unknown significance,\N,intron_variant,17.77,0.00011609,EXAC_EAS_AF,ALMS1
446997,2:73716740:CTGTT>C,NM_015120.4:c.7672-13_7672-10del,\N,\N,9/22,Unknown significance,\N,intron_variant,18.15,0.000172801,EXAC_AMR_AF,ALMS1
446998,2:73716755:T>C,NM_015120.4:c.7672-6T>C,\N,\N,9/22,Unknown significance,\N,splice_region_variant&intron_variant,11.99,0.0000605694,EXAC_SAS_AF,ALMS1
446999,2:73716759:A>G,NM_015120.4:c.7672-2A>G,\N,\N,9/22,Unknown significance,\N,splice_acceptor_variant,23.2,0.0000150002,EXAC_NFE_AF,ALMS1
447000,2:73716770:A>G,NM_015120.4:c.7681A>G,NP_055935.4:p.Ser2563Gly,10/23,\N,Unknown significance,\N,missense_variant,25.6,0.0000449802,EXAC_NFE_AF,ALMS1
447001,2:73716772:T>G,NM_015120.4:c.7683T>G,NP_055935.4:p.Ser2563Arg,10/23,\N,Unknown significance,\N,missense_variant,25.3,0.000014993,EXAC_NFE_AF,ALMS1
447002,2:73716774:C>G,NM_015120.4:c.7685C>G,NP_055935.4:p.Pro2564Arg,10/23,\N,Unknown significance,\N,missense_variant,26.6,0.000116036,EXAC_EAS_AF,ALMS1
447003,2:73716774:C>T,NM_015120.4:c.7685C>T,NP_055935.4:p.Pro2564Leu,10/23,\N,Unknown significance,\N,missense_variant,29.6,0.000014993,EXAC_NFE_AF,ALMS1
447004,2:73716776:C>T,NM_015120.4:c.7687C>T,NP_055935.4:p.Arg2565Trp,10/23,\N,Likely benign,\N,missense_variant,25.7,0.0008,1KG_AFR_AF,ALMS1
447005,2:73716777:G>A,NM_015120.4:c.7688G>A,NP_055935.4:p.Arg2565Gln,10/23,\N,Likely benign,\N,missense_variant,19.74,0.0000605694,EXAC_SAS_AF,ALMS1
447006,2:73716778:G>C,NM_015120.4:c.7689G>C,NP_055935.4:p.Arg2565=,10/23,\N,Unknown significance,\N,synonymous_variant,3.396,0.000348109,EXAC_EAS_AF,ALMS1
447007,2:73716780:G>A,NM_015120.4:c.7691G>A,NP_055935.4:p.Gly2566Glu,10/23,\N,Likely benign,\N,missense_variant,25,\N,\N,ALMS1
447008,2:73716783:T>C,NM_015120.4:c.7694T>C,NP_055935.4:p.Met2567Thr,10/23,\N,Unknown significance,\N,missense_variant,19.85,0.000121595,EVS_EA_AF,ALMS1
447009,2:73716786:G>T,NM_015120.4:c.7697G>T,NP_055935.4:p.Gly2568Val,10/23,\N,Unknown significance,\N,missense_variant,24.5,0.001,1KG_EAS_AF,ALMS1
447010,2:73716787:A>T,NM_015120.4:c.7698A>T,NP_055935.4:p.Gly2568=,10/23,\N,Unknown significance,\N,synonymous_variant,0.627,0.000121124,EXAC_SAS_AF,ALMS1
447011,2:73716796:A>C,NM_015120.4:c.7707A>C,NP_055935.4:p.Pro2571=,10/23,\N,Unknown significance,\N,synonymous_variant,0.802,0.0000299751,EXAC_NFE_AF,ALMS1
447012,2:73716801:C>G,NM_015120.4:c.7712C>G,NP_055935.4:p.Ala2573Gly,10/23,\N,Unknown significance,\N,missense_variant,27.9,0.001,1KG_EAS_AF,ALMS1
447013,2:73716805:A>G,NM_015120.4:c.7716A>G,NP_055935.4:p.Val2574=,10/23,\N,Unknown significance,\N,synonymous_variant,9.828,0.002,1KG_EAS_AF,ALMS1
447014,2:73716807:G>A,NM_015120.4:c.7718G>A,NP_055935.4:p.Cys2575Tyr,10/23,\N,Unknown significance,\N,missense_variant,27.3,0.0000149867,EXAC_NFE_AF,ALMS1
447015,2:73716810:G>A,NM_015120.4:c.7721G>A,NP_055935.4:p.Ser2576Asn,10/23,\N,Benign,\N,missense_variant,26.6,0.216423,EXAC_EAS_AF,ALMS1
447016,2:73716814:C>T,NM_015120.4:c.7725C>T,NP_055935.4:p.His2577=,10/23,\N,Unknown significance,\N,synonymous_variant,10.93,0.000231911,EXAC_EAS_AF,ALMS1
447017,2:73716821:A>T,NM_015120.4:c.7732A>T,NP_055935.4:p.Ile2580Phe,10/23,\N,Unknown significance,\N,missense_variant,24.8,0.0000149844,EXAC_NFE_AF,ALMS1
447018,2:73716826:G>A,NM_015120.4:c.7737G>A,NP_055935.4:p.Glu2581=,10/23,\N,Unknown significance,\N,synonymous_variant,10.36,0.000115982,EXAC_EAS_AF,ALMS1
447019,2:73716826:G>C,NM_015120.4:c.7737G>C,NP_055935.4:p.Glu2581Asp,10/23,\N,Unknown significance,\N,missense_variant,26.1,0.0041,1KG_SAS_AF,ALMS1
447020,2:73716829:C>T,NM_015120.4:c.7740C>T,NP_055935.4:p.Ser2582=,10/23,\N,Unknown significance,\N,synonymous_variant,13.42,0.000260824,EVS_AA_AF,ALMS1
447021,2:73716834:A>G,NM_015120.4:c.7745A>G,NP_055935.4:p.Glu2584Gly,10/23,\N,Unknown significance,\N,missense_variant,28.5,0.000014984,EXAC_NFE_AF,ALMS1
447022,2:73716836:A>G,NM_015120.4:c.7747A>G,NP_055935.4:p.Lys2585Glu,10/23,\N,Unknown significance,\N,missense_variant,26.5,0.000060562,EXAC_SAS_AF,ALMS1
447023,2:73716838:G>A,NM_015120.4:c.7749G>A,NP_055935.4:p.Lys2585=,10/23,\N,Unknown significance,\N,synonymous_variant,9.632,0.000121124,EXAC_SAS_AF,ALMS1
447024,2:73716838:G>C,NM_015120.4:c.7749G>C,NP_055935.4:p.Lys2585Asn,10/23,\N,Unknown significance,\N,missense_variant,24.7,0.000014984,EXAC_NFE_AF,ALMS1
447025,2:73716840:G>C,NM_015120.4:c.7751G>C,NP_055935.4:p.Gly2586Ala,10/23,\N,Unknown significance,\N,missense_variant,25.3,0.000014984,EXAC_NFE_AF,ALMS1
447026,2:73716846:T>A,NM_015120.4:c.7757T>A,NP_055935.4:p.Phe2588Tyr,10/23,\N,Likely benign,\N,missense_variant,16.03,0.0000863856,EXAC_AMR_AF,ALMS1
447027,2:73716848:C>T,NM_015120.4:c.7759C>T,NP_055935.4:p.Arg2589Trp,10/23,\N,Unknown significance,\N,missense_variant,28,0.000121124,EXAC_SAS_AF,ALMS1
447028,2:73716849:G>A,NM_015120.4:c.7760G>A,NP_055935.4:p.Arg2589Gln,10/23,\N,Unknown significance,\N,missense_variant,23.8,0.000121124,EXAC_SAS_AF,ALMS1
447029,2:73716850:G>A,NM_015120.4:c.7761G>A,NP_055935.4:p.Arg2589=,10/23,\N,Unknown significance,\N,synonymous_variant,4.426,0.0008,1KG_AFR_AF,ALMS1
447030,2:73716854:C>G,NM_015120.4:c.7765C>G,NP_055935.4:p.Leu2591Val,10/23,\N,Unknown significance,\N,missense_variant,22.9,0.000115955,EXAC_EAS_AF,ALMS1
447031,2:73716856:A>G,NM_015120.4:c.7767A>G,NP_055935.4:p.Leu2591=,10/23,\N,Unknown significance,\N,synonymous_variant,0.89,0.000014984,EXAC_NFE_AF,ALMS1
447032,2:73716866:C>T,NM_015120.4:c.7777C>T,NP_055935.4:p.His2595Tyr,10/23,\N,Likely benign,\N,missense_variant,7.228,0.000345543,EXAC_AMR_AF,ALMS1
447033,2:73716871:A>G,NM_015120.4:c.7782A>G,NP_055935.4:p.Pro2596=,10/23,\N,Unknown significance,\N,synonymous_variant,0.016,0.000014984,EXAC_NFE_AF,ALMS1
447034,2:73716874:A>C,NM_015120.4:c.7785A>C,NP_055935.4:p.Gln2597His,10/23,\N,Likely benign,\N,missense_variant,17.68,0.0000299679,EXAC_NFE_AF,ALMS1
447035,2:73716877:A>C,NM_015120.4:c.7788A>C,NP_055935.4:p.Leu2598=,10/23,\N,Unknown significance,\N,synonymous_variant,0.002,\N,\N,ALMS1
447036,2:73716877:A>G,NM_015120.4:c.7788A>G,NP_055935.4:p.Leu2598=,10/23,\N,Unknown significance,\N,synonymous_variant,0.011,0.0000605694,EXAC_SAS_AF,ALMS1
447037,2:73716878:G>T,NM_015120.4:c.7789G>T,NP_055935.4:p.Asp2599Tyr,10/23,\N,Unknown significance,\N,missense_variant,23.3,0.0000449519,EXAC_NFE_AF,ALMS1
447038,2:73716893:G>C,NM_015120.4:c.7804G>C,NP_055935.4:p.Ala2604Pro,10/23,\N,Unknown significance,\N,missense_variant,23.8,\N,\N,ALMS1
447039,2:73716898:C>G,NM_015120.4:c.7809C>G,NP_055935.4:p.Phe2605Leu,10/23,\N,Unknown significance,\N,missense_variant,23.2,0.000242248,EVS_EA_AF,ALMS1
447040,2:73716902:T>C,NM_015120.4:c.7813T>C,NP_055935.4:p.Ser2607Pro,10/23,\N,Likely benign,\N,missense_variant,21.5,0.001,1KG_EAS_AF,ALMS1
447041,2:73716903:C>T,NM_015120.4:c.7814C>T,NP_055935.4:p.Ser2607Phe,10/23,\N,Unknown significance,\N,missense_variant,25.6,\N,\N,ALMS1
447042,2:73716906:C>G,NM_015120.4:c.7817C>G,NP_055935.4:p.Ala2608Gly,10/23,\N,Unknown significance,\N,missense_variant,23.2,0.00222222,EXAC_OTH_AF,ALMS1
447043,2:73716925:C>T,NM_015120.4:c.7836C>T,NP_055935.4:p.Thr2614=,10/23,\N,Unknown significance,\N,synonymous_variant,9.178,0.000463929,EXAC_EAS_AF,ALMS1
447044,2:73716926:A>G,NM_015120.4:c.7837A>G,NP_055935.4:p.Arg2615Gly,10/23,\N,Unknown significance,\N,missense_variant,24.8,0.0000149862,EXAC_NFE_AF,ALMS1
447045,2:73716932:C>T,NM_015120.4:c.7843C>T,NP_055935.4:p.Arg2617Trp,10/23,\N,Likely benign,\N,missense_variant,23.6,0.0008,1KG_AFR_AF,ALMS1
447046,2:73716936:A>G,NM_015120.4:c.7847A>G,NP_055935.4:p.Gln2618Arg,10/23,\N,Likely benign,\N,missense_variant,0.001,0.0000863856,EXAC_AMR_AF,ALMS1
447047,2:73716952:C>T,NM_015120.4:c.7863C>T,NP_055935.4:p.Cys2623=,10/23,\N,Unknown significance,\N,synonymous_variant,0.027,0.0000605914,EXAC_SAS_AF,ALMS1
447048,2:73716956:G>A,NM_015120.4:c.7867G>A,NP_055935.4:p.Ala2625Thr,10/23,\N,Likely benign,\N,missense_variant,0.006,0.000115955,EXAC_EAS_AF,ALMS1
447049,2:73716956:G>C,NM_015120.4:c.7867G>C,NP_055935.4:p.Ala2625Pro,10/23,\N,Likely benign,\N,missense_variant,13.7,\N,\N,ALMS1
447050,2:73716958:C>G,NM_015120.4:c.7869C>G,NP_055935.4:p.Ala2625=,10/23,\N,Unknown significance,\N,synonymous_variant,0.251,0.0000605767,EXAC_SAS_AF,ALMS1
447051,2:73716963:A>G,NM_015120.4:c.7874A>G,NP_055935.4:p.His2627Arg,10/23,\N,Unknown significance,\N,missense_variant,22.9,0.000115982,EXAC_EAS_AF,ALMS1
447052,2:73716968:A>C,NM_015120.4:c.7879A>C,NP_055935.4:p.Asn2629His,10/23,\N,Unknown significance,\N,missense_variant,21.7,\N,\N,ALMS1
447053,2:73716969:A>G,NM_015120.4:c.7880A>G,NP_055935.4:p.Asn2629Ser,10/23,\N,Likely benign,\N,missense_variant,0.266,0.000102333,EXAC_AFR_AF,ALMS1
447054,2:73716975:C>G,NM_015120.4:c.7886C>G,NP_055935.4:p.Ser2631Cys,10/23,\N,Likely benign,\N,missense_variant,15.14,0.0000149934,EXAC_NFE_AF,ALMS1
447055,2:73716986:G>T,NM_015120.4:c.7897G>T,NP_055935.4:p.Asp2635Tyr,10/23,\N,Unknown significance,\N,missense_variant,26.7,0.0008,1KG_AFR_AF,ALMS1
447056,2:73716988:C>G,NM_015120.4:c.7899C>G,NP_055935.4:p.Asp2635Glu,10/23,\N,Likely benign,\N,missense_variant,22.7,0.000060584,EXAC_SAS_AF,ALMS1
447057,2:73716988:C>T,NM_015120.4:c.7899C>T,NP_055935.4:p.Asp2635=,10/23,\N,Unknown significance,\N,synonymous_variant,10.84,0.0008,1KG_AFR_AF,ALMS1
447058,2:73716993:A>C,NM_015120.4:c.7904A>C,NP_055935.4:p.Asn2637Thr,10/23,\N,Likely benign,\N,missense_variant,16.41,0.0000149979,EXAC_NFE_AF,ALMS1
447059,2:73716997:C>G,NM_015120.4:c.7908C>G,NP_055935.4:p.Asn2638Lys,10/23,\N,Likely benign,\N,missense_variant,23.9,0.000060584,EXAC_SAS_AF,ALMS1
447060,2:73716997:C>T,NM_015120.4:c.7908C>T,NP_055935.4:p.Asn2638=,10/23,\N,Unknown significance,\N,synonymous_variant,8.578,0.0000149984,EXAC_NFE_AF,ALMS1
447061,2:73716998:T>A,NM_015120.4:c.7909T>A,NP_055935.4:p.Ser2639Thr,10/23,\N,Likely benign,\N,missense_variant,9.275,0.001,1KG_EAS_AF,ALMS1
447062,2:73716999:C>A,NM_015120.4:c.7910C>A,NP_055935.4:p.Ser2639Tyr,10/23,\N,Unknown significance,\N,missense_variant,26.4,0.0000149984,EXAC_NFE_AF,ALMS1
447063,2:73717009:A>C,NM_015120.4:c.7920A>C,NP_055935.4:p.Lys2642Asn,10/23,\N,Unknown significance,\N,missense_variant,24.2,0.000060584,EXAC_SAS_AF,ALMS1
447064,2:73717010:G>A,NM_015120.4:c.7921G>A,NP_055935.4:p.Val2643Ile,10/23,\N,Unknown significance,\N,missense_variant,23.8,0.0000864006,EXAC_AMR_AF,ALMS1
447065,2:73717012:T>C,NM_015120.4:c.7923T>C,NP_055935.4:p.Val2643=,10/23,\N,Unknown significance,\N,synonymous_variant,2.231,0.0000149997,EXAC_NFE_AF,ALMS1
447066,2:73717016:A>C,NM_015120.4:c.7927A>C,NP_055935.4:p.Asn2645His,10/23,\N,Unknown significance,\N,missense_variant,25,0.0000150011,EXAC_NFE_AF,ALMS1
447067,2:73717029:T>G,NM_015120.4:c.7940T>G,NP_055935.4:p.Leu2649Ter,10/23,\N,Unknown significance,\N,stop_gained,39,0.000102606,EXAC_AFR_AF,ALMS1
447068,2:73717034:A>G,NM_015120.4:c.7945A>G,NP_055935.4:p.Ser2651Gly,10/23,\N,Unknown significance,\N,missense_variant,24.5,0.0015,1KG_AFR_AF,ALMS1
447069,2:73717038:A>C,NM_015120.4:c.7949A>C,NP_055935.4:p.His2652Pro,10/23,\N,Likely benign,\N,missense_variant,18.98,0.000015002,EXAC_NFE_AF,ALMS1
447070,2:73717041:C>G,NM_015120.4:c.7952C>G,NP_055935.4:p.Ser2653Cys,10/23,\N,Unknown significance,\N,missense_variant,25.9,0.0000605987,EXAC_SAS_AF,ALMS1
447071,2:73717045:A>G,NM_015120.4:c.7956A>G,NP_055935.4:p.Pro2654=,10/23,\N,Unknown significance,\N,synonymous_variant,0.063,0.0000150024,EXAC_NFE_AF,ALMS1
447072,2:73717054:C>G,NM_015120.4:c.7965C>G,NP_055935.4:p.Asn2657Lys,10/23,\N,Likely benign,\N,missense_variant,8.991,0.000116009,EXAC_EAS_AF,ALMS1
447073,2:73717062:C>G,NM_015120.4:c.7973C>G,NP_055935.4:p.Pro2660Arg,10/23,\N,Unknown significance,\N,missense_variant,23.2,0.00220418,EXAC_EAS_AF,ALMS1
447074,2:73717067:G>A,NM_015120.4:c.7978G>A,NP_055935.4:p.Glu2662Lys,10/23,\N,Unknown significance,\N,missense_variant,23.3,0.000302957,EXAC_SAS_AF,ALMS1
447075,2:73717075:A>T,NM_015120.4:c.7986A>T,NP_055935.4:p.Lys2664Asn,10/23,\N,Unknown significance,\N,missense_variant,14.42,0.000116009,EXAC_EAS_AF,ALMS1
447076,2:73717091:C>G,NM_015120.4:c.8002C>G,NP_055935.4:p.Arg2670Gly,10/23,\N,Likely benign,\N,missense_variant,16.46,0.001,1KG_EAS_AF,ALMS1
447077,2:73717092:G>A,NM_015120.4:c.8003G>A,NP_055935.4:p.Arg2670Gln,10/23,\N,Likely benign,\N,missense_variant,11.96,\N,\N,ALMS1
447078,2:73717100:T>C,NM_015120.4:c.8011T>C,NP_055935.4:p.Phe2673Leu,10/23,\N,Likely benign,\N,missense_variant,24.5,\N,\N,ALMS1
447079,2:73717102:C>T,NM_015120.4:c.8013C>T,NP_055935.4:p.Phe2673=,10/23,\N,Unknown significance,\N,synonymous_variant,14.24,0.0000449789,EXAC_NFE_AF,ALMS1
447080,2:73717103:G>A,NM_015120.4:c.8014G>A,NP_055935.4:p.Asp2674Asn,10/23,\N,Likely benign,\N,missense_variant,17.86,0.000231857,EXAC_EAS_AF,ALMS1
447081,2:73717103:G>C,NM_015120.4:c.8014G>C,NP_055935.4:p.Asp2674His,10/23,\N,Benign,\N,missense_variant,3.135,0.218409,EXAC_EAS_AF,ALMS1
447082,2:73717104:A>G,NM_015120.4:c.8015A>G,NP_055935.4:p.Asp2674Gly,10/23,\N,Likely benign,\N,missense_variant,16.06,0.0000605694,EXAC_SAS_AF,ALMS1
447083,2:73717112:A>G,NM_015120.4:c.8023A>G,NP_055935.4:p.Met2677Val,10/23,\N,Likely benign,\N,missense_variant,10.75,0.000102166,EXAC_AFR_AF,ALMS1
447084,2:73717114:G>A,NM_015120.4:c.8025G>A,NP_055935.4:p.Met2677Ile,10/23,\N,Likely benign,\N,missense_variant,11.57,\N,\N,ALMS1
447085,2:73717116:A>C,NM_015120.4:c.8027A>C,NP_055935.4:p.Asp2678Ala,10/23,\N,Likely benign,\N,missense_variant,22.1,\N,\N,ALMS1
447086,2:73717116:A>G,NM_015120.4:c.8027A>G,NP_055935.4:p.Asp2678Gly,10/23,\N,Likely benign,\N,missense_variant,22.8,\N,\N,ALMS1
447087,2:73717116:A>T,NM_015120.4:c.8027A>T,NP_055935.4:p.Asp2678Val,10/23,\N,Likely benign,\N,missense_variant,21.3,\N,\N,ALMS1
447088,2:73717117:C>A,NM_015120.4:c.8028C>A,NP_055935.4:p.Asp2678Glu,10/23,\N,Likely benign,\N,missense_variant,22.9,0.0000864006,EXAC_AMR_AF,ALMS1
447089,2:73717124:C>A,NM_015120.4:c.8035C>A,NP_055935.4:p.Leu2681Met,10/23,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,ALMS1
447090,2:73717124:C>T,NM_015120.4:c.8035C>T,NP_055935.4:p.Leu2681=,10/23,\N,Unknown significance,\N,synonymous_variant,12.3,\N,\N,ALMS1
447091,2:73717126:G>T,NM_015120.4:c.8037G>T,NP_055935.4:p.Leu2681=,10/23,\N,Unknown significance,\N,synonymous_variant,5.94,0.0000149867,EXAC_NFE_AF,ALMS1
447092,2:73717130:G>T,NM_015120.4:c.8041G>T,NP_055935.4:p.Glu2683Ter,10/23,\N,Unknown significance,\N,stop_gained,46,0.000231857,EXAC_EAS_AF,ALMS1
447093,2:73717158:C>A,NM_015120.4:c.8069C>A,NP_055935.4:p.Pro2692His,10/23,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,ALMS1
447094,2:73717160:A>G,NM_015120.4:c.8071A>G,NP_055935.4:p.Lys2693Glu,10/23,\N,Likely benign,\N,missense_variant,14.08,0.000244081,EVS_EA_AF,ALMS1
447095,2:73717164:A>C,NM_015120.4:c.8075A>C,NP_055935.4:p.Glu2694Ala,10/23,\N,Unknown significance,\N,missense_variant,22.5,\N,\N,ALMS1
447096,2:73717167:T>G,NM_015120.4:c.8078T>G,NP_055935.4:p.Val2695Gly,10/23,\N,Unknown significance,\N,missense_variant,24.5,0.000115929,EXAC_EAS_AF,ALMS1
447097,2:73717176:A>C,NM_015120.4:c.8087A>C,NP_055935.4:p.His2698Pro,10/23,\N,Likely benign,\N,missense_variant,12.05,0.0000149849,EXAC_NFE_AF,ALMS1
447098,2:73717182:C>T,NM_015120.4:c.8093C>T,NP_055935.4:p.Ser2700Leu,10/23,\N,Likely benign,\N,missense_variant,23.9,0.000172771,EXAC_AMR_AF,ALMS1
447099,2:73717188:A>C,NM_015120.4:c.8099A>C,NP_055935.4:p.Gln2702Pro,10/23,\N,Unknown significance,\N,missense_variant,23.6,0.000060562,EXAC_SAS_AF,ALMS1
447100,2:73717194:C>T,NM_015120.4:c.8105C>T,NP_055935.4:p.Pro2704Leu,10/23,\N,Likely benign,\N,missense_variant,0.636,0.000536193,EVS_AA_AF,ALMS1
447101,2:73717195:G>A,NM_015120.4:c.8106G>A,NP_055935.4:p.Pro2704=,10/23,\N,Unknown significance,\N,synonymous_variant,6.259,0.0000449532,EXAC_NFE_AF,ALMS1
447102,2:73717195:G>T,NM_015120.4:c.8106G>T,NP_055935.4:p.Pro2704=,10/23,\N,Unknown significance,\N,synonymous_variant,4.507,0.0000149844,EXAC_NFE_AF,ALMS1
447103,2:73717197:C>T,NM_015120.4:c.8108C>T,NP_055935.4:p.Ser2705Phe,10/23,\N,Unknown significance,\N,missense_variant,24.2,0.000347786,EXAC_EAS_AF,ALMS1
447104,2:73717203:A>G,NM_015120.4:c.8114A>G,NP_055935.4:p.Glu2707Gly,10/23,\N,Unknown significance,\N,missense_variant,24.3,0.000115929,EXAC_EAS_AF,ALMS1
447105,2:73717208:A>C,NM_015120.4:c.8119A>C,NP_055935.4:p.Met2709Leu,10/23,\N,Likely benign,\N,missense_variant,5.876,0.000269542,EVS_AA_AF,ALMS1
447106,2:73717212:A>G,NM_015120.4:c.8123A>G,NP_055935.4:p.Lys2710Arg,10/23,\N,Likely benign,\N,missense_variant,5.352,0.0000605694,EXAC_SAS_AF,ALMS1
447107,2:73717213:A>G,NM_015120.4:c.8124A>G,NP_055935.4:p.Lys2710=,10/23,\N,Unknown significance,\N,synonymous_variant,0.011,0.000014984,EXAC_NFE_AF,ALMS1
447108,2:73717215:A>G,NM_015120.4:c.8126A>G,NP_055935.4:p.Lys2711Arg,10/23,\N,Unknown significance,\N,missense_variant,21.5,0.000121139,EXAC_SAS_AF,ALMS1
447109,2:73717216:G>A,NM_015120.4:c.8127G>A,NP_055935.4:p.Lys2711=,10/23,\N,Unknown significance,\N,synonymous_variant,7.603,0.000172771,EXAC_AMR_AF,ALMS1
447110,2:73717217:T>C,NM_015120.4:c.8128T>C,NP_055935.4:p.Phe2712Leu,10/23,\N,Likely benign,\N,missense_variant,18.7,0.000269542,EVS_AA_AF,ALMS1
447111,2:73717220:A>G,NM_015120.4:c.8131A>G,NP_055935.4:p.Thr2713Ala,10/23,\N,Unknown significance,\N,missense_variant,24.2,0.00010202,EXAC_AFR_AF,ALMS1
447112,2:73717223:A>G,NM_015120.4:c.8134A>G,NP_055935.4:p.Thr2714Ala,10/23,\N,Unknown significance,\N,missense_variant,27,0.000014984,EXAC_NFE_AF,ALMS1
447113,2:73717229:A>G,NM_015120.4:c.8140A>G,NP_055935.4:p.Ile2716Val,10/23,\N,Unknown significance,\N,missense_variant,24,0.000121124,EXAC_SAS_AF,ALMS1
447114,2:73717247:C>T,NM_015120.4:c.8158C>T,NP_055935.4:p.Arg2722Ter,10/23,\N,Pathogenic,Alstrom syndrome; ALSTROM SYNDROME,stop_gained,43,0.000121139,EXAC_SAS_AF,ALMS1
447115,2:73717248:G>A,NM_015120.4:c.8159G>A,NP_055935.4:p.Arg2722Gln,10/23,\N,Likely benign,\N,missense_variant,22.9,0.000121124,EXAC_SAS_AF,ALMS1
447116,2:73717249:A>G,NM_015120.4:c.8160A>G,NP_055935.4:p.Arg2722=,10/23,\N,Unknown significance,\N,synonymous_variant,9.09,0.0000863856,EXAC_AMR_AF,ALMS1
447117,2:73717254:C>A,NM_015120.4:c.8165C>A,NP_055935.4:p.Ser2724Tyr,10/23,\N,Unknown significance,\N,missense_variant,28,0.000269397,EVS_AA_AF,ALMS1
447118,2:73717256:A>G,NM_015120.4:c.8167A>G,NP_055935.4:p.Lys2725Glu,10/23,\N,Unknown significance,\N,missense_variant,23.5,0.0000149858,EXAC_NFE_AF,ALMS1
447119,2:73717261:C>T,NM_015120.4:c.8172C>T,NP_055935.4:p.Cys2726=,10/23,\N,Unknown significance,\N,synonymous_variant,11.28,0.0000149858,EXAC_NFE_AF,ALMS1
447120,2:73717264:T>C,NM_015120.4:c.8175T>C,NP_055935.4:p.Ile2727=,10/23,\N,Unknown significance,\N,synonymous_variant,6.041,0.0000149867,EXAC_NFE_AF,ALMS1
447121,2:73717267:C>G,NM_015120.4:c.8178C>G,NP_055935.4:p.Ser2728=,10/23,\N,Unknown significance,\N,synonymous_variant,9.242,0.000242248,EXAC_SAS_AF,ALMS1
447122,2:73717272:C>A,NM_015120.4:c.8183C>A,NP_055935.4:p.Ser2730Tyr,10/23,\N,Unknown significance,\N,missense_variant,27.4,0.0000299751,EXAC_NFE_AF,ALMS1
447123,2:73717281:T>C,NM_015120.4:c.8192T>C,NP_055935.4:p.Val2733Ala,10/23,\N,Unknown significance,\N,missense_variant,20.8,0.001,1KG_EAS_AF,ALMS1
447124,2:73717289:G>A,NM_015120.4:c.8200G>A,NP_055935.4:p.Gly2736Ser,10/23,\N,Likely benign,\N,missense_variant,26.7,0.0000299868,EXAC_NFE_AF,ALMS1
447125,2:73717292:G>A,NM_015120.4:c.8203G>A,NP_055935.4:p.Val2737Ile,10/23,\N,Unknown significance,\N,missense_variant,25.8,0.000306748,EXAC_AFR_AF,ALMS1
447126,2:73717296:C>T,NM_015120.4:c.8207C>T,NP_055935.4:p.Thr2738Ile,10/23,\N,Unknown significance,\N,missense_variant,27.9,0.000121153,EXAC_SAS_AF,ALMS1
447127,2:73717297:T>G,NM_015120.4:c.8208T>G,NP_055935.4:p.Thr2738=,10/23,\N,Unknown significance,\N,synonymous_variant,7.594,0.0000864304,EXAC_AMR_AF,ALMS1
447128,2:73717300:A>C,NM_015120.4:c.8211A>C,NP_055935.4:p.Glu2739Asp,10/23,\N,Unknown significance,\N,missense_variant,24,0.001,1KG_SAS_AF,ALMS1
447129,2:73717310:T>C,NM_015120.4:c.8221T>C,NP_055935.4:p.Cys2743Arg,10/23,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,ALMS1
447130,2:73717321:A>G,NM_015120.4:c.8232A>G,NP_055935.4:p.Ala2746=,10/23,\N,Unknown significance,\N,synonymous_variant,9.463,0.0000150245,EXAC_NFE_AF,ALMS1
447131,2:73717326:T>G,NM_015120.4:c.8237T>G,NP_055935.4:p.Val2748Gly,10/23,\N,Unknown significance,\N,missense_variant,24.9,0.0029,1KG_AMR_AF,ALMS1
447132,2:73717326:T>TG,NM_015120.4:c.8242dup,NP_055935.4:p.Val2750GlyfsTer3,10/23,\N,Unknown significance,\N,frameshift_variant,35,0.0000865501,EXAC_AMR_AF,ALMS1
447133,2:73717343:C>A,NM_015120.4:c.8254C>A,NP_055935.4:p.His2754Asn,10/23,\N,Likely benign,\N,missense_variant,18.82,0.000550358,EVS_AA_AF,ALMS1
447134,2:73717343:C>T,NM_015120.4:c.8254C>T,NP_055935.4:p.His2754Tyr,10/23,\N,Unknown significance,\N,missense_variant,25.3,0.0000150466,EXAC_NFE_AF,ALMS1
447135,2:73717350:C>T,NM_015120.4:c.8261C>T,NP_055935.4:p.Thr2756Ile,10/23,\N,Unknown significance,\N,missense_variant,25.9,\N,\N,ALMS1
447136,2:73717358:C>T,NM_015120.4:c.8269C>T,NP_055935.4:p.Gln2759Ter,10/23,\N,Unknown significance,\N,stop_gained,42,0.000151194,EXAC_FIN_AF,ALMS1
447137,2:73717360:A>G,NM_015120.4:c.8271A>G,NP_055935.4:p.Gln2759=,10/23,\N,Unknown significance,\N,synonymous_variant,0.432,0.00423029,EXAC_AFR_AF,ALMS1
447138,2:73717364:C>T,NM_015120.4:c.8275C>T,NP_055935.4:p.Pro2761Ser,10/23,\N,Likely benign,\N,missense_variant,12.65,0.0008,1KG_AFR_AF,ALMS1
447139,2:73717365:C>A,NM_015120.4:c.8276C>A,NP_055935.4:p.Pro2761His,10/23,\N,Unknown significance,\N,missense_variant,25.1,0.0000150611,EXAC_NFE_AF,ALMS1
447140,2:73717365:C>G,NM_015120.4:c.8276C>G,NP_055935.4:p.Pro2761Arg,10/23,\N,Unknown significance,\N,missense_variant,24.4,0.0000150611,EXAC_NFE_AF,ALMS1
447141,2:73717367:C>G,NM_015120.4:c.8278C>G,NP_055935.4:p.Pro2762Ala,10/23,\N,Unknown significance,\N,missense_variant,16.19,0.000516422,EXAC_AFR_AF,ALMS1
447142,2:73717367:C>T,NM_015120.4:c.8278C>T,NP_055935.4:p.Pro2762Ser,10/23,\N,Likely benign,\N,missense_variant,13.28,0.0000150621,EXAC_NFE_AF,ALMS1
447143,2:73717385:A>G,NM_015120.4:c.8296A>G,NP_055935.4:p.Lys2768Glu,10/23,\N,Likely benign,\N,missense_variant,7.731,0.0000150775,EXAC_NFE_AF,ALMS1
447144,2:73717386:A>G,NM_015120.4:c.8297A>G,NP_055935.4:p.Lys2768Arg,10/23,\N,Likely benign,\N,missense_variant,0.005,0.0000150784,EXAC_NFE_AF,ALMS1
447145,2:73717395:C>A,NM_015120.4:c.8306C>A,NP_055935.4:p.Ser2771Tyr,10/23,\N,Unknown significance,\N,missense_variant,25.3,0.00111607,EXAC_OTH_AF,ALMS1
447146,2:73717399:TTCA>T,NM_015120.4:c.8315_8317del,NP_055935.4:p.Ser2774del,10/23,\N,Unknown significance,\N,inframe_deletion,14.84,0.000232937,EXAC_EAS_AF,ALMS1
447147,2:73717402:A>T,NM_015120.4:c.8313A>T,NP_055935.4:p.Ser2773=,10/23,\N,Unknown significance,\N,synonymous_variant,0.381,0.0000151003,EXAC_NFE_AF,ALMS1
447148,2:73717405:A>G,NM_015120.4:c.8316A>G,NP_055935.4:p.Ser2774=,10/23,\N,Unknown significance,\N,synonymous_variant,7.574,0.000060746,EXAC_SAS_AF,ALMS1
447149,2:73717407:T>G,NM_015120.4:c.8318T>G,NP_055935.4:p.Phe2775Cys,10/23,\N,Unknown significance,\N,missense_variant,24.4,0.001,1KG_SAS_AF,ALMS1
447150,2:73717414:G>A,NM_015120.4:c.8325G>A,NP_055935.4:p.Met2777Ile,10/23,\N,Likely benign,\N,missense_variant,0.004,0.0000151108,EXAC_NFE_AF,ALMS1
447151,2:73717416:A>C,NM_015120.4:c.8327A>C,NP_055935.4:p.His2778Pro,10/23,\N,Likely benign,\N,missense_variant,0.003,0.00011655,EXAC_EAS_AF,ALMS1
447152,2:73717416:A>T,NM_015120.4:c.8327A>T,NP_055935.4:p.His2778Leu,10/23,\N,Likely benign,\N,missense_variant,0.002,0.0000151108,EXAC_NFE_AF,ALMS1
447153,2:73717422:A>T,NM_015120.4:c.8333A>T,NP_055935.4:p.Asn2780Ile,10/23,\N,Unknown significance,\N,missense_variant,23.3,0.0000151172,EXAC_NFE_AF,ALMS1
447154,2:73717425:C>T,NM_015120.4:c.8336C>T,NP_055935.4:p.Ser2781Leu,10/23,\N,Unknown significance,\N,missense_variant,22.9,0.0000151185,EXAC_NFE_AF,ALMS1
447155,2:73717435:A>G,NM_015120.4:c.8346A>G,NP_055935.4:p.Lys2784=,10/23,\N,Unknown significance,\N,synonymous_variant,0.143,0.0008,1KG_AFR_AF,ALMS1
447156,2:73717438:A>G,NM_015120.4:c.8349A>G,NP_055935.4:p.Glu2785=,10/23,\N,Unknown significance,\N,synonymous_variant,0.65,0.0000151291,EXAC_NFE_AF,ALMS1
447157,2:73717443:C>G,NM_015120.4:c.8354C>G,NP_055935.4:p.Thr2787Ser,10/23,\N,Unknown significance,\N,missense_variant,25.5,0.0008,1KG_AFR_AF,ALMS1
447158,2:73717445:A>G,NM_015120.4:c.8356A>G,NP_055935.4:p.Ile2788Val,10/23,\N,Likely benign,\N,missense_variant,12.24,0.0023,1KG_AFR_AF,ALMS1
447159,2:73717450:A>G,NM_015120.4:c.8361A>G,NP_055935.4:p.Leu2789=,10/23,\N,Unknown significance,\N,synonymous_variant,2.934,0.0008,1KG_AFR_AF,ALMS1
447160,2:73717465:G>A,NM_015120.4:c.8376G>A,NP_055935.4:p.Arg2794=,10/23,\N,Unknown significance,\N,synonymous_variant,10.86,0.001,1KG_SAS_AF,ALMS1
447161,2:73717466:C>T,NM_015120.4:c.8377C>T,NP_055935.4:p.Gln2795Ter,10/23,\N,Pathogenic,Alstrom syndrome; ALSTROM SYNDROME,stop_gained,39,\N,\N,ALMS1
447162,2:73717469:A>G,NM_015120.4:c.8380A>G,NP_055935.4:p.Ser2796Gly,10/23,\N,Likely benign,\N,missense_variant,12.37,0.0000607903,EXAC_SAS_AF,ALMS1
447163,2:73717470:G>A,NM_015120.4:c.8381G>A,NP_055935.4:p.Ser2796Asn,10/23,\N,Likely benign,\N,missense_variant,10.24,0.0000151368,EXAC_NFE_AF,ALMS1
447164,2:73717471:C>T,NM_015120.4:c.8382C>T,NP_055935.4:p.Ser2796=,10/23,\N,Unknown significance,\N,synonymous_variant,11.38,0.0000607977,EXAC_SAS_AF,ALMS1
447165,2:73717474:A>T,NM_015120.4:c.8385A>T,NP_055935.4:p.Gln2797His,10/23,\N,Unknown significance,\N,missense_variant,23.7,0.000260915,EXAC_AMR_AF,ALMS1
447166,2:73717487:G>A,NM_015120.4:c.8398G>A,NP_055935.4:p.Asp2802Asn,10/23,\N,Likely benign,\N,missense_variant,22.1,0.0000607386,EXAC_SAS_AF,ALMS1
447167,2:73717496:C>T,NM_015120.4:c.8407C>T,NP_055935.4:p.Arg2805Cys,10/23,\N,Likely benign,\N,missense_variant,25,0.000546647,EXAC_SAS_AF,ALMS1
447168,2:73717497:G>A,NM_015120.4:c.8408G>A,NP_055935.4:p.Arg2805His,10/23,\N,Likely benign,\N,missense_variant,12.57,0.00222222,EXAC_OTH_AF,ALMS1
447169,2:73717497:G>T,NM_015120.4:c.8408G>T,NP_055935.4:p.Arg2805Leu,10/23,\N,Likely benign,\N,missense_variant,23.7,0.0000607386,EXAC_SAS_AF,ALMS1
447170,2:73717502:T>G,NM_015120.4:c.8413T>G,NP_055935.4:p.Phe2807Val,10/23,\N,Likely benign,\N,missense_variant,9.025,0.0000302847,EXAC_NFE_AF,ALMS1
447171,2:73717506:A>C,NM_015120.4:c.8417A>C,NP_055935.4:p.Gln2808Pro,10/23,\N,Unknown significance,\N,missense_variant,23.8,0.00010469,EXAC_AFR_AF,ALMS1
447172,2:73717507:A>G,NM_015120.4:c.8418A>G,NP_055935.4:p.Gln2808=,10/23,\N,Unknown significance,\N,synonymous_variant,0.094,0.0000868961,EXAC_AMR_AF,ALMS1
447173,2:73717518:C>A,NM_015120.4:c.8429C>A,NP_055935.4:p.Pro2812His,10/23,\N,Unknown significance,\N,missense_variant,22.6,\N,\N,ALMS1
447174,2:73717531:A>G,NM_015120.4:c.8442A>G,NP_055935.4:p.Ser2816=,10/23,\N,Benign,\N,synonymous_variant,6.569,0.0051,1KG_SAS_AF,ALMS1
447175,2:73717539:C>T,NM_015120.4:c.8450C>T,NP_055935.4:p.Thr2819Ile,10/23,\N,Unknown significance,\N,missense_variant,23.2,0.00124948,EXAC_AFR_AF,ALMS1
447176,2:73717541:G>A,NM_015120.4:c.8452G>A,NP_055935.4:p.Gly2820Ser,10/23,\N,Likely benign,\N,missense_variant,9.438,0.000116496,EXAC_EAS_AF,ALMS1
447177,2:73717557:C>T,NM_015120.4:c.8468C>T,NP_055935.4:p.Pro2825Leu,10/23,\N,Unknown significance,\N,missense_variant,31,0.0000606722,EXAC_SAS_AF,ALMS1
447178,2:73717559:A>C,NM_015120.4:c.8470A>C,NP_055935.4:p.Ser2826Arg,10/23,\N,Unknown significance,\N,missense_variant,19.6,0.0000867905,EXAC_AMR_AF,ALMS1
447179,2:73717559:A>G,NM_015120.4:c.8470A>G,NP_055935.4:p.Ser2826Gly,10/23,\N,Unknown significance,\N,missense_variant,16.46,0.0000151062,EXAC_NFE_AF,ALMS1
447180,2:73717563:C>G,NM_015120.4:c.8474C>G,NP_055935.4:p.Thr2827Ser,10/23,\N,Likely benign,\N,missense_variant,8.316,0.000121359,EXAC_SAS_AF,ALMS1
447181,2:73717567:G>T,NM_015120.4:c.8478G>T,NP_055935.4:p.Arg2828Ser,10/23,\N,Benign,\N,missense_variant,0.291,0.8578,1KG_AFR_AF,ALMS1
447182,2:73717569:C>A,NM_015120.4:c.8480C>A,NP_055935.4:p.Ala2829Glu,10/23,\N,Unknown significance,\N,missense_variant,22.4,0.000060687,EXAC_SAS_AF,ALMS1
447183,2:73717572:A>C,NM_015120.4:c.8483A>C,NP_055935.4:p.Asn2830Thr,10/23,\N,Unknown significance,\N,missense_variant,15.35,\N,\N,ALMS1
447184,2:73717573:T>C,NM_015120.4:c.8484T>C,NP_055935.4:p.Asn2830=,10/23,\N,Unknown significance,\N,synonymous_variant,0.243,0.000970874,EXAC_SAS_AF,ALMS1
447185,2:73717575:G>A,NM_015120.4:c.8486G>A,NP_055935.4:p.Cys2831Tyr,10/23,\N,Likely benign,\N,missense_variant,0.002,0.000122399,EVS_EA_AF,ALMS1
447186,2:73717576:T>C,NM_015120.4:c.8487T>C,NP_055935.4:p.Cys2831=,10/23,\N,Unknown significance,\N,synonymous_variant,0.265,0.000102965,EXAC_AFR_AF,ALMS1
447187,2:73717582:T>A,NM_015120.4:c.8493T>A,NP_055935.4:p.Asn2833Lys,10/23,\N,Likely benign,\N,missense_variant,20.7,0.000755972,EXAC_FIN_AF,ALMS1
447188,2:73717598:A>G,NM_015120.4:c.8509A>G,NP_055935.4:p.Ile2839Val,10/23,\N,Likely benign,\N,missense_variant,13.72,0.000173521,EXAC_AMR_AF,ALMS1
447189,2:73717605:A>G,NM_015120.4:c.8516A>G,NP_055935.4:p.Asp2841Gly,10/23,\N,Likely benign,\N,missense_variant,18.24,0.000060687,EXAC_SAS_AF,ALMS1
447190,2:73717611:A>G,NM_015120.4:c.8522A>G,NP_055935.4:p.His2843Arg,10/23,\N,Unknown significance,\N,missense_variant,17.59,0.00012222,EVS_EA_AF,ALMS1
447191,2:73717615:C>T,NM_015120.4:c.8526C>T,NP_055935.4:p.Thr2844=,10/23,\N,Unknown significance,\N,synonymous_variant,13.89,0.000151194,EXAC_FIN_AF,ALMS1
447192,2:73717620:T>C,NM_015120.4:c.8531T>C,NP_055935.4:p.Ile2846Thr,10/23,\N,Unknown significance,\N,missense_variant,24.2,0.0000150739,EXAC_NFE_AF,ALMS1
447193,2:73717625:A>G,NM_015120.4:c.8536A>G,NP_055935.4:p.Met2848Val,10/23,\N,Likely benign,\N,missense_variant,14.78,0.0000607017,EXAC_SAS_AF,ALMS1
447194,2:73717632:G>A,NM_015120.4:c.8543G>A,NP_055935.4:p.Arg2850Lys,10/23,\N,Benign,\N,missense_variant,19.99,0.0102812,EXAC_FIN_AF,ALMS1
447195,2:73717635:C>T,NM_015120.4:c.8546C>T,NP_055935.4:p.Pro2851Leu,10/23,\N,Likely benign,\N,missense_variant,18.81,0.0008,1KG_AFR_AF,ALMS1
447196,2:73717642:C>T,NM_015120.4:c.8553C>T,NP_055935.4:p.Ser2853=,10/23,\N,Unknown significance,\N,synonymous_variant,13.07,\N,\N,ALMS1
447197,2:73717646:C>G,NM_015120.4:c.8557C>G,NP_055935.4:p.Leu2855Val,10/23,\N,Likely benign,\N,missense_variant,22,0.0000301259,EXAC_NFE_AF,ALMS1
447198,2:73717651:A>C,NM_015120.4:c.8562A>C,NP_055935.4:p.Gly2856=,10/23,\N,Unknown significance,\N,synonymous_variant,4.252,0.000103029,EXAC_AFR_AF,ALMS1
447199,2:73717652:G>T,NM_015120.4:c.8563G>T,NP_055935.4:p.Val2857Leu,10/23,\N,Unknown significance,\N,missense_variant,21.5,0.000060687,EXAC_SAS_AF,ALMS1
447200,2:73717656:A>G,NM_015120.4:c.8567A>G,NP_055935.4:p.Asn2858Ser,10/23,\N,Benign,\N,missense_variant,0.009,0.8578,1KG_AFR_AF,ALMS1
447201,2:73717662:C>A,NM_015120.4:c.8573C>A,NP_055935.4:p.Ser2860Ter,10/23,\N,Unknown significance,\N,stop_gained,37,0.000453583,EXAC_FIN_AF,ALMS1
447202,2:73717662:C>G,NM_015120.4:c.8573C>G,NP_055935.4:p.Ser2860Trp,10/23,\N,Unknown significance,\N,missense_variant,25.7,0.0000150507,EXAC_NFE_AF,ALMS1
447203,2:73717662:C>T,NM_015120.4:c.8573C>T,NP_055935.4:p.Ser2860Leu,10/23,\N,Likely benign,\N,missense_variant,23.3,0.001,1KG_SAS_AF,ALMS1
447204,2:73717663:G>A,NM_015120.4:c.8574G>A,NP_055935.4:p.Ser2860=,10/23,\N,Unknown significance,\N,synonymous_variant,13.31,0.0014,1KG_AMR_AF,ALMS1
447205,2:73717675:A>G,NM_015120.4:c.8586A>G,NP_055935.4:p.Leu2864=,10/23,\N,Unknown significance,\N,synonymous_variant,6.606,0.0000300879,EXAC_NFE_AF,ALMS1
447206,2:73717679:G>A,NM_015120.4:c.8590G>A,NP_055935.4:p.Val2866Ile,10/23,\N,Likely benign,\N,missense_variant,21.3,0.0000150444,EXAC_NFE_AF,ALMS1
447207,2:73717686:A>C,NM_015120.4:c.8597A>C,NP_055935.4:p.Glu2868Ala,10/23,\N,Unknown significance,\N,missense_variant,24.7,0.000102859,EXAC_AFR_AF,ALMS1
447208,2:73717689:A>G,NM_015120.4:c.8600A>G,NP_055935.4:p.Lys2869Arg,10/23,\N,Unknown significance,\N,missense_variant,25.5,0.000060687,EXAC_SAS_AF,ALMS1
447209,2:73717698:C>G,NM_015120.4:c.8609C>G,NP_055935.4:p.Thr2872Ser,10/23,\N,Unknown significance,\N,missense_variant,24.7,0.0000150367,EXAC_NFE_AF,ALMS1
447210,2:73717708:A>G,NM_015120.4:c.8619A>G,NP_055935.4:p.Pro2875=,10/23,\N,Unknown significance,\N,synonymous_variant,5.52,0.0000150322,EXAC_NFE_AF,ALMS1
447211,2:73717710:A>T,NM_015120.4:c.8621A>T,NP_055935.4:p.Asp2876Val,10/23,\N,Unknown significance,\N,missense_variant,25.4,0.0000150308,EXAC_NFE_AF,ALMS1
447212,2:73717721:T>C,NM_015120.4:c.8632T>C,NP_055935.4:p.Cys2880Arg,10/23,\N,Likely benign,\N,missense_variant,10.07,0.001,1KG_EAS_AF,ALMS1
447213,2:73717722:G>A,NM_015120.4:c.8633G>A,NP_055935.4:p.Cys2880Tyr,10/23,\N,Likely benign,\N,missense_variant,8.182,0.0000150182,EXAC_NFE_AF,ALMS1
447214,2:73717724:A>G,NM_015120.4:c.8635A>G,NP_055935.4:p.Ile2881Val,10/23,\N,Unknown significance,\N,missense_variant,22,\N,\N,ALMS1
447215,2:73717730:C>T,NM_015120.4:c.8641C>T,NP_055935.4:p.Leu2883Phe,10/23,\N,Unknown significance,\N,missense_variant,28.1,0.00036452,EVS_EA_AF,ALMS1
447216,2:73717733:GAAC>G,NM_015120.4:c.8648_8650del,NP_055935.4:p.Gln2885del,10/23,\N,Unknown significance,\N,inframe_deletion,15.26,\N,\N,ALMS1
447217,2:73717739:C>T,NM_015120.4:c.8650C>T,NP_055935.4:p.Arg2886Ter,10/23,\N,Unknown significance,\N,stop_gained,40,0.000102522,EXAC_AFR_AF,ALMS1
447218,2:73717740:G>A,NM_015120.4:c.8651G>A,NP_055935.4:p.Arg2886Gln,10/23,\N,Likely benign,\N,missense_variant,23.3,0.0014,1KG_AMR_AF,ALMS1
447219,2:73717741:A>C,NM_015120.4:c.8652A>C,NP_055935.4:p.Arg2886=,10/23,\N,Unknown significance,\N,synonymous_variant,0.26,0.0000300219,EXAC_NFE_AF,ALMS1
447220,2:73717741:A>G,NM_015120.4:c.8652A>G,NP_055935.4:p.Arg2886=,10/23,\N,Unknown significance,\N,synonymous_variant,4.867,0.000260281,EVS_AA_AF,ALMS1
447221,2:73717744:G>A,NM_015120.4:c.8655G>A,NP_055935.4:p.Glu2887=,10/23,\N,Unknown significance,\N,synonymous_variant,6.496,0.0008,1KG_AFR_AF,ALMS1
447222,2:73717745:C>A,NM_015120.4:c.8656C>A,NP_055935.4:p.Leu2888Ile,10/23,\N,Unknown significance,\N,missense_variant,25.6,0.000116063,EXAC_EAS_AF,ALMS1
447223,2:73717751:G>T,NM_015120.4:c.8662G>T,NP_055935.4:p.Glu2890Ter,10/23,\N,Unknown significance,\N,stop_gained,50,0.0000606061,EXAC_SAS_AF,ALMS1
447224,2:73717752:A>C,NM_015120.4:c.8663A>C,NP_055935.4:p.Glu2890Ala,10/23,\N,Unknown significance,\N,missense_variant,25.8,0.000015006,EXAC_NFE_AF,ALMS1
447225,2:73717756:A>G,NM_015120.4:c.8667A>G,NP_055935.4:p.Gln2891=,10/23,\N,Unknown significance,\N,synonymous_variant,0.19,0.0008,1KG_AFR_AF,ALMS1
447226,2:73717758:G>A,NM_015120.4:c.8669G>A,NP_055935.4:p.Ser2892Asn,10/23,\N,Likely benign,\N,missense_variant,19.94,0.0000150056,EXAC_NFE_AF,ALMS1
447227,2:73717759:C>G,NM_015120.4:c.8670C>G,NP_055935.4:p.Ser2892Arg,10/23,\N,Unknown significance,\N,missense_variant,24.2,0.000116009,EXAC_EAS_AF,ALMS1
447228,2:73717769:C>A,NM_015120.4:c.8680C>A,NP_055935.4:p.Arg2896Ser,10/23,\N,Likely benign,\N,missense_variant,21.7,0.00017304,EXAC_AMR_AF,ALMS1
447229,2:73717769:C>T,NM_015120.4:c.8680C>T,NP_055935.4:p.Arg2896Cys,10/23,\N,Unknown significance,\N,missense_variant,24.9,0.00111359,EXAC_OTH_AF,ALMS1
447230,2:73717770:G>A,NM_015120.4:c.8681G>A,NP_055935.4:p.Arg2896His,10/23,\N,Likely benign,\N,missense_variant,0.016,0.0000865052,EXAC_AMR_AF,ALMS1
447231,2:73717772:G>A,NM_015120.4:c.8683G>A,NP_055935.4:p.Ala2897Thr,10/23,\N,Likely benign,\N,missense_variant,0.022,0.0000865052,EXAC_AMR_AF,ALMS1
447232,2:73717778:G>A,NM_015120.4:c.8689G>A,NP_055935.4:p.Asp2899Asn,10/23,\N,Likely benign,\N,missense_variant,8.555,0.0000149939,EXAC_NFE_AF,ALMS1
447233,2:73717796:C>G,NM_015120.4:c.8707C>G,NP_055935.4:p.His2905Asp,10/23,\N,Unknown significance,\N,missense_variant,17.1,\N,\N,ALMS1
447234,2:73717796:C>T,NM_015120.4:c.8707C>T,NP_055935.4:p.His2905Tyr,10/23,\N,Unknown significance,\N,missense_variant,18.26,0.000231911,EXAC_EAS_AF,ALMS1
447235,2:73717797:A>C,NM_015120.4:c.8708A>C,NP_055935.4:p.His2905Pro,10/23,\N,Likely benign,\N,missense_variant,7.061,0.000255363,EVS_AA_AF,ALMS1
447236,2:73717802:C>CCCTCT,NM_015120.4:c.8718_8722dup,NP_055935.4:p.Gln2910LeufsTer8,10/23,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,ALMS1
447237,2:73717806:C>G,NM_015120.4:c.8717C>G,NP_055935.4:p.Ser2908Cys,10/23,\N,Unknown significance,\N,missense_variant,18.7,0.000181752,EXAC_SAS_AF,ALMS1
447238,2:73717809:C>T,NM_015120.4:c.8720C>T,NP_055935.4:p.Pro2909Leu,10/23,\N,Likely benign,\N,missense_variant,23.3,0.001,1KG_EAS_AF,ALMS1
447239,2:73717815:A>G,NM_015120.4:c.8726A>G,NP_055935.4:p.His2911Arg,10/23,\N,Likely benign,\N,missense_variant,0.005,0.0000149885,EXAC_NFE_AF,ALMS1
447240,2:73717816:T>C,NM_015120.4:c.8727T>C,NP_055935.4:p.His2911=,10/23,\N,Unknown significance,\N,synonymous_variant,0.03,0.000120685,EVS_EA_AF,ALMS1
447241,2:73717820:G>A,NM_015120.4:c.8731G>A,NP_055935.4:p.Asp2913Asn,10/23,\N,Likely benign,\N,missense_variant,23.9,0.000060584,EXAC_SAS_AF,ALMS1
447242,2:73717822:T>C,NM_015120.4:c.8733T>C,NP_055935.4:p.Asp2913=,10/23,\N,Unknown significance,\N,synonymous_variant,0.018,\N,\N,ALMS1
447243,2:73717828:A>G,NM_015120.4:c.8739A>G,NP_055935.4:p.Val2915=,10/23,\N,Benign,\N,synonymous_variant,1.994,0.0204,1KG_AFR_AF,ALMS1
447244,2:73717830:C>T,NM_015120.4:c.8741C>T,NP_055935.4:p.Ala2916Val,10/23,\N,Likely benign,\N,missense_variant,14.86,0.0000864155,EXAC_AMR_AF,ALMS1
447245,2:73717837:C>T,NM_015120.4:c.8748C>T,NP_055935.4:p.Asp2918=,10/23,\N,Unknown significance,\N,synonymous_variant,10.68,0.0008,1KG_AFR_AF,ALMS1
447246,2:73717839:T>G,NM_015120.4:c.8750T>G,NP_055935.4:p.Leu2919Arg,10/23,\N,Unknown significance,\N,missense_variant,25.4,0.0000149849,EXAC_NFE_AF,ALMS1
447247,2:73717840:T>A,NM_015120.4:c.8751T>A,NP_055935.4:p.Leu2919=,10/23,\N,Unknown significance,\N,synonymous_variant,5.544,0.0000605694,EXAC_SAS_AF,ALMS1
447248,2:73717843:T>C,NM_015120.4:c.8754T>C,NP_055935.4:p.Pro2920=,10/23,\N,Unknown significance,\N,synonymous_variant,0.44,0.0000149849,EXAC_NFE_AF,ALMS1
447249,2:73717849:C>G,NM_015120.4:c.8760C>G,NP_055935.4:p.Cys2922Trp,10/23,\N,Likely benign,\N,missense_variant,23.4,0.000115929,EXAC_EAS_AF,ALMS1
447250,2:73717851:T>C,NM_015120.4:c.8762T>C,NP_055935.4:p.Ile2923Thr,10/23,\N,Unknown significance,\N,missense_variant,24.2,0.000783699,EVS_AA_AF,ALMS1
447251,2:73717857:T>C,NM_015120.4:c.8768T>C,NP_055935.4:p.Leu2925Pro,10/23,\N,Unknown significance,\N,missense_variant,24.3,0.0000899065,EXAC_NFE_AF,ALMS1
447252,2:73717862:C>A,NM_015120.4:c.8773C>A,NP_055935.4:p.Gln2927Lys,10/23,\N,Likely benign,\N,missense_variant,18.14,0.0000149844,EXAC_NFE_AF,ALMS1
447253,2:73717865:C>A,NM_015120.4:c.8776C>A,NP_055935.4:p.Arg2928=,10/23,\N,Unknown significance,\N,synonymous_variant,20.5,0.000329647,EXAC_NFE_AF,ALMS1
447254,2:73717865:C>T,NM_015120.4:c.8776C>T,NP_055935.4:p.Arg2928Ter,10/23,\N,Unknown significance,\N,stop_gained,40,0.000151194,EXAC_FIN_AF,ALMS1
447255,2:73717866:G>A,NM_015120.4:c.8777G>A,NP_055935.4:p.Arg2928Gln,10/23,\N,Likely benign,\N,missense_variant,14.53,0.000121124,EXAC_SAS_AF,ALMS1
447256,2:73717874:T>C,NM_015120.4:c.8785T>C,NP_055935.4:p.Phe2931Leu,10/23,\N,Likely benign,\N,missense_variant,22.7,0.000101999,EXAC_AFR_AF,ALMS1
447257,2:73717880:C>G,NM_015120.4:c.8791C>G,NP_055935.4:p.Gln2933Glu,10/23,\N,Unknown significance,\N,missense_variant,23.6,0.000115929,EXAC_EAS_AF,ALMS1
447258,2:73717891:C>A,NM_015120.4:c.8802C>A,NP_055935.4:p.Ala2936=,10/23,\N,Unknown significance,\N,synonymous_variant,8.762,0.000231857,EXAC_EAS_AF,ALMS1
447259,2:73717894:A>G,NM_015120.4:c.8805A>G,NP_055935.4:p.Pro2937=,10/23,\N,Unknown significance,\N,synonymous_variant,0.222,\N,\N,ALMS1
447260,2:73717896:A>T,NM_015120.4:c.8807A>T,NP_055935.4:p.Tyr2938Phe,10/23,\N,Likely benign,\N,missense_variant,8.523,0.0000149835,EXAC_NFE_AF,ALMS1
447261,2:73717897:T>C,NM_015120.4:c.8808T>C,NP_055935.4:p.Tyr2938=,10/23,\N,Unknown significance,\N,synonymous_variant,0.001,0.003,1KG_EAS_AF,ALMS1
447262,2:73717898:G>A,NM_015120.4:c.8809G>A,NP_055935.4:p.Val2939Ile,10/23,\N,Likely benign,\N,missense_variant,2.391,0.0000863856,EXAC_AMR_AF,ALMS1
447263,2:73717907:C>G,NM_015120.4:c.8818C>G,NP_055935.4:p.Gln2942Glu,10/23,\N,Likely benign,\N,missense_variant,0.008,0.000259157,EXAC_AMR_AF,ALMS1
447264,2:73717908:A>G,NM_015120.4:c.8819A>G,NP_055935.4:p.Gln2942Arg,10/23,\N,Unknown significance,\N,missense_variant,20.7,0.00173893,EXAC_EAS_AF,ALMS1
447265,2:73717914:G>C,NM_015120.4:c.8825G>C,NP_055935.4:p.Arg2944Thr,10/23,\N,Unknown significance,\N,missense_variant,23.5,0.0000863856,EXAC_AMR_AF,ALMS1
447266,2:73717914:G>T,NM_015120.4:c.8825G>T,NP_055935.4:p.Arg2944Ile,10/23,\N,Unknown significance,\N,missense_variant,24.4,0.00010202,EXAC_AFR_AF,ALMS1
447267,2:73717921:C>G,NM_015120.4:c.8832C>G,NP_055935.4:p.Asn2946Lys,10/23,\N,Benign,\N,missense_variant,0.085,0.0143657,EVS_EA_AF,ALMS1
447268,2:73717921:C>T,NM_015120.4:c.8832C>T,NP_055935.4:p.Asn2946=,10/23,\N,Unknown significance,\N,synonymous_variant,0.739,0.0000605694,EXAC_SAS_AF,ALMS1
447269,2:73717923:A>G,NM_015120.4:c.8834A>G,NP_055935.4:p.His2947Arg,10/23,\N,Unknown significance,\N,missense_variant,8.154,0.00139293,EXAC_SAS_AF,ALMS1
447270,2:73717926:C>T,NM_015120.4:c.8837C>T,NP_055935.4:p.Ser2948Phe,10/23,\N,Likely benign,\N,missense_variant,23,0.0000605694,EXAC_SAS_AF,ALMS1
447271,2:73717935:C>A,NM_015120.4:c.8846C>A,NP_055935.4:p.Pro2951His,10/23,\N,Unknown significance,\N,missense_variant,23.4,\N,\N,ALMS1
447272,2:73717935:C>T,NM_015120.4:c.8846C>T,NP_055935.4:p.Pro2951Leu,10/23,\N,Likely benign,\N,missense_variant,11.28,\N,\N,ALMS1
447273,2:73717936:T>G,NM_015120.4:c.8847T>G,NP_055935.4:p.Pro2951=,10/23,\N,Unknown significance,\N,synonymous_variant,0.049,0.0000605694,EXAC_SAS_AF,ALMS1
447274,2:73717942:T>C,NM_015120.4:c.8853T>C,NP_055935.4:p.Gly2953=,10/23,\N,Unknown significance,\N,synonymous_variant,0.066,0.0000863856,EXAC_AMR_AF,ALMS1
447275,2:73717947:A>G,NM_015120.4:c.8858A>G,NP_055935.4:p.Asp2955Gly,10/23,\N,Likely benign,\N,missense_variant,15.78,0.000014984,EXAC_NFE_AF,ALMS1
447276,2:73717948:T>G,NM_015120.4:c.8859T>G,NP_055935.4:p.Asp2955Glu,10/23,\N,Likely benign,\N,missense_variant,5.302,0.000121684,EVS_EA_AF,ALMS1
447277,2:73717961:G>C,NM_015120.4:c.8872G>C,NP_055935.4:p.Asp2960His,10/23,\N,Unknown significance,\N,missense_variant,24.1,0.000121595,EVS_EA_AF,ALMS1
447278,2:73717964:C>T,NM_015120.4:c.8875C>T,NP_055935.4:p.Leu2961Phe,10/23,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,ALMS1
447279,2:73717968:C>T,NM_015120.4:c.8879C>T,NP_055935.4:p.Pro2962Leu,10/23,\N,Unknown significance,\N,missense_variant,23.3,0.0000605694,EXAC_SAS_AF,ALMS1
447280,2:73717969:G>A,NM_015120.4:c.8880G>A,NP_055935.4:p.Pro2962=,10/23,\N,Unknown significance,\N,synonymous_variant,8.318,0.000266241,EVS_AA_AF,ALMS1
447281,2:73717975:C>T,NM_015120.4:c.8886C>T,NP_055935.4:p.Pro2964=,10/23,\N,Unknown significance,\N,synonymous_variant,8.891,\N,\N,ALMS1
447282,2:73717976:A>G,NM_015120.4:c.8887A>G,NP_055935.4:p.Ile2965Val,10/23,\N,Likely benign,\N,missense_variant,2.48,0.00111111,EXAC_OTH_AF,ALMS1
447283,2:73717985:G>C,NM_015120.4:c.8896G>C,NP_055935.4:p.Glu2968Gln,10/23,\N,Unknown significance,\N,missense_variant,23.1,0.001,1KG_SAS_AF,ALMS1
447284,2:73717987:A>G,NM_015120.4:c.8898A>G,NP_055935.4:p.Glu2968=,10/23,\N,Unknown significance,\N,synonymous_variant,0.088,0.000121566,EVS_EA_AF,ALMS1
447285,2:73717988:C>T,NM_015120.4:c.8899C>T,NP_055935.4:p.Gln2969Ter,10/23,\N,Unknown significance,\N,stop_gained,40,0.000115929,EXAC_EAS_AF,ALMS1
447286,2:73717990:A>G,NM_015120.4:c.8901A>G,NP_055935.4:p.Gln2969=,10/23,\N,Unknown significance,\N,synonymous_variant,0.016,0.000172771,EXAC_AMR_AF,ALMS1
447287,2:73717992:G>T,NM_015120.4:c.8903G>T,NP_055935.4:p.Cys2970Phe,10/23,\N,Unknown significance,\N,missense_variant,18.96,\N,\N,ALMS1
447288,2:73717997:A>C,NM_015120.4:c.8908A>C,NP_055935.4:p.Ser2972Arg,10/23,\N,Unknown significance,\N,missense_variant,23.2,0.000060562,EXAC_SAS_AF,ALMS1
447289,2:73718001:A>G,NM_015120.4:c.8912A>G,NP_055935.4:p.Lys2973Arg,10/23,\N,Likely benign,\N,missense_variant,11.69,0.000115929,EXAC_EAS_AF,ALMS1
447290,2:73718004:C>T,NM_015120.4:c.8915C>T,NP_055935.4:p.Ala2974Val,10/23,\N,Likely benign,\N,missense_variant,7.503,0.00313007,EXAC_EAS_AF,ALMS1
447291,2:73718005:G>A,NM_015120.4:c.8916G>A,NP_055935.4:p.Ala2974=,10/23,\N,Benign,\N,synonymous_variant,4.516,0.0144911,EXAC_EAS_AF,ALMS1
447292,2:73718014:A>G,NM_015120.4:c.8925A>G,NP_055935.4:p.Val2977=,10/23,\N,Unknown significance,\N,synonymous_variant,0.234,0.000264971,EVS_AA_AF,ALMS1
447293,2:73718028:A>G,NM_015120.4:c.8939A>G,NP_055935.4:p.Asn2982Ser,10/23,\N,Benign,\N,missense_variant,0.001,0.00665256,EXAC_FIN_AF,ALMS1
447294,2:73718032:A>T,NM_015120.4:c.8943A>T,NP_055935.4:p.Lys2983Asn,10/23,\N,Unknown significance,\N,missense_variant,21.1,0.0000149844,EXAC_NFE_AF,ALMS1
447295,2:73718047:T>A,NM_015120.4:c.8958T>A,NP_055935.4:p.Leu2988=,10/23,\N,Unknown significance,\N,synonymous_variant,1.437,0.001,1KG_SAS_AF,ALMS1
447296,2:73718059:G>T,NM_015120.4:c.8970G>T,NP_055935.4:p.Gln2992His,10/23,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,ALMS1
447297,2:73718066:G>A,NM_015120.4:c.8977G>A,NP_055935.4:p.Val2995Ile,10/23,\N,Benign,\N,missense_variant,9.075,0.0102,1KG_SAS_AF,ALMS1
447298,2:73718066:G>T,NM_015120.4:c.8977G>T,NP_055935.4:p.Val2995Leu,10/23,\N,Unknown significance,\N,missense_variant,10.74,\N,\N,ALMS1
447299,2:73718070:T>G,NM_015120.4:c.8981T>G,NP_055935.4:p.Val2996Gly,10/23,\N,Unknown significance,\N,missense_variant,25.4,\N,\N,ALMS1
447300,2:73718075:A>C,NM_015120.4:c.8986A>C,NP_055935.4:p.Lys2998Gln,10/23,\N,Unknown significance,\N,missense_variant,24,0.000263435,EVS_AA_AF,ALMS1
447301,2:73718076:A>C,NM_015120.4:c.8987A>C,NP_055935.4:p.Lys2998Thr,10/23,\N,Unknown significance,\N,missense_variant,25.5,0.0000864155,EXAC_AMR_AF,ALMS1
447302,2:73718084:C>T,NM_015120.4:c.8995C>T,NP_055935.4:p.Gln3001Ter,10/23,\N,Unknown significance,\N,stop_gained,37,0.000121389,EVS_EA_AF,ALMS1
447303,2:73718085:A>G,NM_015120.4:c.8996A>G,NP_055935.4:p.Gln3001Arg,10/23,\N,Unknown significance,\N,missense_variant,20.9,0.0000605694,EXAC_SAS_AF,ALMS1
447304,2:73718090:A>C,NM_015120.4:c.9001A>C,NP_055935.4:p.Lys3003Gln,10/23,\N,Likely benign,\N,missense_variant,7.422,0.0008,1KG_AFR_AF,ALMS1
447305,2:73718092:G>C,NM_015120.4:c.9003G>C,NP_055935.4:p.Lys3003Asn,10/23,\N,Likely benign,\N,missense_variant,23.6,0.000259246,EXAC_AMR_AF,ALMS1
447306,2:73718094:C>T,NM_015120.4:c.9005C>T,NP_055935.4:p.Pro3004Leu,10/23,\N,Likely benign,\N,missense_variant,15.91,0.000102145,EXAC_AFR_AF,ALMS1
447307,2:73718102:C>T,NM_015120.4:c.9013C>T,NP_055935.4:p.His3007Tyr,10/23,\N,Likely benign,\N,missense_variant,0.025,0.000102145,EXAC_AFR_AF,ALMS1
447308,2:73718104:C>T,NM_015120.4:c.9015C>T,NP_055935.4:p.His3007=,10/23,\N,Unknown significance,\N,synonymous_variant,0.953,0.000121153,EVS_EA_AF,ALMS1
447309,2:73718112:A>G,NM_015120.4:c.9023A>G,NP_055935.4:p.Asn3010Ser,10/23,\N,Likely benign,\N,missense_variant,0.001,0.000121168,EXAC_SAS_AF,ALMS1
447310,2:73718115:T>C,NM_015120.4:c.9026T>C,NP_055935.4:p.Ile3011Thr,10/23,\N,Unknown significance,\N,missense_variant,12.63,0.000115982,EXAC_EAS_AF,ALMS1
447311,2:73718117:A>AC,NM_015120.4:c.9028_9029insC,NP_055935.4:p.Asn3012ThrfsTer3,10/23,\N,Unknown significance,\N,frameshift_variant,29.1,\N,\N,ALMS1
447312,2:73718118:A>AAAGGTGTTTCCTTTTGATCAAGTCCAATTAATTGATTTTTAAATGGATCG,NM_015120.4:c.9029_9030insAAGGTGTTTCCTTTTGATCAAGTCCAATTAATTGATTTTTAAATGGATCG,NP_055935.4:p.Asn3012LysfsTer11,10/23,\N,Unknown significance,\N,stop_gained&frameshift_variant,27.3,\N,\N,ALMS1
447313,2:73718120:G>A,NM_015120.4:c.9031G>A,NP_055935.4:p.Val3013Ile,10/23,\N,Unknown significance,\N,missense_variant,20.4,0.0000149912,EXAC_NFE_AF,ALMS1
447314,2:73718128:C>G,NM_015120.4:c.9039C>G,NP_055935.4:p.Ala3015=,10/23,\N,Unknown significance,\N,synonymous_variant,0.761,0.0000149912,EXAC_NFE_AF,ALMS1
447315,2:73718128:C>T,NM_015120.4:c.9039C>T,NP_055935.4:p.Ala3015=,10/23,\N,Unknown significance,\N,synonymous_variant,4.499,0.0000149912,EXAC_NFE_AF,ALMS1
447316,2:73718130:A>G,NM_015120.4:c.9041A>G,NP_055935.4:p.Lys3016Arg,10/23,\N,Unknown significance,\N,missense_variant,22.8,0.0000605914,EXAC_SAS_AF,ALMS1
447317,2:73718136:A>G,NM_015120.4:c.9047A>G,NP_055935.4:p.Asn3018Ser,10/23,\N,Likely benign,\N,missense_variant,0.002,0.000204457,EXAC_AFR_AF,ALMS1
447318,2:73718141:G>A,NM_015120.4:c.9052G>A,NP_055935.4:p.Val3020Met,10/23,\N,Likely benign,\N,missense_variant,14.16,0.000102229,EXAC_AFR_AF,ALMS1
447319,2:73718149:C>T,NM_015120.4:c.9060C>T,NP_055935.4:p.Ser3022=,10/23,\N,Unknown significance,\N,synonymous_variant,7.576,0.0000299877,EXAC_NFE_AF,ALMS1
447320,2:73718154:C>T,NM_015120.4:c.9065C>T,NP_055935.4:p.Ser3024Leu,10/23,\N,Likely benign,\N,missense_variant,0.623,0.0000605914,EXAC_SAS_AF,ALMS1
447321,2:73718159:C>A,NM_015120.4:c.9070C>A,NP_055935.4:p.Pro3026Thr,10/23,\N,Unknown significance,\N,missense_variant,22.3,0.000121183,EXAC_SAS_AF,ALMS1
447322,2:73718160:C>T,NM_015120.4:c.9071C>T,NP_055935.4:p.Pro3026Leu,10/23,\N,Unknown significance,\N,missense_variant,23.6,0.0000149948,EXAC_NFE_AF,ALMS1
447323,2:73718169:G>A,NM_015120.4:c.9080G>A,NP_055935.4:p.Cys3029Tyr,10/23,\N,Likely benign,\N,missense_variant,0.001,0.0041,1KG_SAS_AF,ALMS1
447324,2:73718174:T>G,NM_015120.4:c.9085T>G,NP_055935.4:p.Leu3031Val,10/23,\N,Likely benign,\N,missense_variant,0.157,0.000232126,EXAC_EAS_AF,ALMS1
447325,2:73718183:T>G,NM_015120.4:c.9094T>G,NP_055935.4:p.Ser3034Ala,10/23,\N,Likely benign,\N,missense_variant,22.8,\N,\N,ALMS1
447326,2:73718186:G>C,NM_015120.4:c.9097G>C,NP_055935.4:p.Ala3035Pro,10/23,\N,Likely benign,\N,missense_variant,18.92,0.002,1KG_SAS_AF,ALMS1
447327,2:73718192:ACTC>A,NM_015120.4:c.9109_9111del,NP_055935.4:p.Pro3039del,10/23,\N,Unknown significance,\N,inframe_deletion,17.08,0.0000449883,EXAC_NFE_AF,ALMS1
447328,2:73718194:T>C,NM_015120.4:c.9105T>C,NP_055935.4:p.Thr3037=,10/23,\N,Unknown significance,\N,synonymous_variant,2.372,0.0000606061,EXAC_SAS_AF,ALMS1
447329,2:73718195:C>T,NM_015120.4:c.9106C>T,NP_055935.4:p.Pro3038Ser,10/23,\N,Likely benign,\N,missense_variant,27.7,0.000014997,EXAC_NFE_AF,ALMS1
447330,2:73718198:C>T,NM_015120.4:c.9109C>T,NP_055935.4:p.Pro3039Ser,10/23,\N,Unknown significance,\N,missense_variant,24.9,0.000257334,EVS_AA_AF,ALMS1
447331,2:73718207:A>G,NM_015120.4:c.9118A>G,NP_055935.4:p.Arg3042Gly,10/23,\N,Unknown significance,\N,missense_variant,26.3,0.0000864454,EXAC_AMR_AF,ALMS1
447332,2:73718212:A>G,NM_015120.4:c.9123A>G,NP_055935.4:p.Lys3043=,10/23,\N,Unknown significance,\N,synonymous_variant,0.981,0.000303104,EXAC_SAS_AF,ALMS1
447333,2:73718213:G>A,NM_015120.4:c.9124G>A,NP_055935.4:p.Ala3044Thr,10/23,\N,Unknown significance,\N,missense_variant,27,0.000120831,EVS_EA_AF,ALMS1
447334,2:73718217:T>C,NM_015120.4:c.9128T>C,NP_055935.4:p.Leu3045Pro,10/23,\N,Unknown significance,\N,missense_variant,26.7,0.0000606134,EXAC_SAS_AF,ALMS1
447335,2:73718224:T>C,NM_015120.4:c.9135T>C,NP_055935.4:p.Cys3047=,10/23,\N,Unknown significance,\N,synonymous_variant,0.482,0.0000149975,EXAC_NFE_AF,ALMS1
447336,2:73718231:A>G,NM_015120.4:c.9142A>G,NP_055935.4:p.Ile3050Val,10/23,\N,Unknown significance,\N,missense_variant,24.7,0.000303067,EXAC_SAS_AF,ALMS1
447337,2:73718244:C>T,NM_015120.4:c.9155C>T,NP_055935.4:p.Pro3054Leu,10/23,\N,Unknown significance,\N,missense_variant,32,0.0000149975,EXAC_NFE_AF,ALMS1
447338,2:73718247:A>G,NM_015120.4:c.9158A>G,NP_055935.4:p.Lys3055Arg,10/23,\N,Unknown significance,\N,missense_variant,26.7,0.0000599862,EXAC_NFE_AF,ALMS1
447339,2:73718259:A>C,NM_015120.4:c.9170A>C,NP_055935.4:p.Lys3059Thr,10/23,\N,Unknown significance,\N,missense_variant,25.3,0.000259336,EXAC_AMR_AF,ALMS1
447340,2:73718259:A>G,NM_015120.4:c.9170A>G,NP_055935.4:p.Lys3059Arg,10/23,\N,Unknown significance,\N,missense_variant,25.7,0.000265393,EVS_AA_AF,ALMS1
447341,2:73718260:G>A,NM_015120.4:c.9171G>A,NP_055935.4:p.Lys3059=,10/23,\N,Unknown significance,\N,synonymous_variant,11.48,0.00010227,EXAC_AFR_AF,ALMS1
447342,2:73718262:T>C,NM_015120.4:c.9173T>C,NP_055935.4:p.Leu3060Ser,10/23,\N,Unknown significance,\N,missense_variant,26.4,\N,\N,ALMS1
447343,2:73718264:G>T,NM_015120.4:c.9175G>T,NP_055935.4:p.Asp3061Tyr,10/23,\N,Unknown significance,\N,missense_variant,27.8,0.001,1KG_SAS_AF,ALMS1
447344,2:73718271:G>A,NM_015120.4:c.9182G>A,NP_055935.4:p.Gly3063Glu,10/23,\N,Unknown significance,\N,missense_variant,26.4,0.0000149912,EXAC_NFE_AF,ALMS1
447345,2:73718273:A>T,NM_015120.4:c.9184A>T,NP_055935.4:p.Thr3064Ser,10/23,\N,Unknown significance,\N,missense_variant,24.5,0.0000606281,EXAC_SAS_AF,ALMS1
447346,2:73718291:C>T,NM_015120.4:c.9202C>T,NP_055935.4:p.His3070Tyr,10/23,\N,Likely benign,\N,missense_variant,0.033,\N,\N,ALMS1
447347,2:73718293:T>C,NM_015120.4:c.9204T>C,NP_055935.4:p.His3070=,10/23,\N,Unknown significance,\N,synonymous_variant,0.012,0.0000149889,EXAC_NFE_AF,ALMS1
447348,2:73718296:A>G,NM_015120.4:c.9207A>G,NP_055935.4:p.Ser3071=,10/23,\N,Unknown significance,\N,synonymous_variant,7.903,\N,\N,ALMS1
447349,2:73718298:T>G,NM_015120.4:c.9209T>G,NP_055935.4:p.Leu3072Trp,10/23,\N,Unknown significance,\N,missense_variant,25.1,0.001,1KG_EUR_AF,ALMS1
447350,2:73718314:A>G,NM_015120.4:c.9225A>G,NP_055935.4:p.Lys3077=,10/23,\N,Unknown significance,\N,synonymous_variant,1.614,0.000014988,EXAC_NFE_AF,ALMS1
447351,2:73718321:A>G,NM_015120.4:c.9232A>G,NP_055935.4:p.Met3080Val,10/23,\N,Likely benign,\N,missense_variant,17.5,0.000115929,EXAC_EAS_AF,ALMS1
447352,2:73718328:G>A,NM_015120.4:c.9239G>A,NP_055935.4:p.Ser3082Asn,10/23,\N,Unknown significance,\N,missense_variant,25,0.0000606061,EXAC_SAS_AF,ALMS1
447353,2:73718348:C>CAT,NM_015120.4:c.9261_9262dup,NP_055935.4:p.Thr3090IlefsTer15,10/23,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,ALMS1
447354,2:73718349:A>G,NM_015120.4:c.9260A>G,NP_055935.4:p.His3089Arg,10/23,\N,Likely benign,\N,missense_variant,0.503,0.000121359,EVS_EA_AF,ALMS1
447355,2:73718356:A>G,NM_015120.4:c.9267A>G,NP_055935.4:p.Val3091=,10/23,\N,Unknown significance,\N,synonymous_variant,5.924,0.0000899254,EXAC_NFE_AF,ALMS1
447356,2:73718365:A>G,NM_015120.4:c.9276A>G,NP_055935.4:p.Arg3094=,10/23,\N,Unknown significance,\N,synonymous_variant,4.167,0.0000449627,EXAC_NFE_AF,ALMS1
447357,2:73718367:C>T,NM_015120.4:c.9278C>T,NP_055935.4:p.Ser3095Leu,10/23,\N,Unknown significance,\N,missense_variant,29.4,0.000121183,EVS_EA_AF,ALMS1
447358,2:73718390:T>C,NM_015120.4:c.9301T>C,NP_055935.4:p.Leu3103=,10/23,\N,Unknown significance,\N,synonymous_variant,0.747,0.0008,1KG_AFR_AF,ALMS1
447359,2:73718392:G>A,NM_015120.4:c.9303G>A,NP_055935.4:p.Leu3103=,10/23,\N,Unknown significance,\N,synonymous_variant,9.384,0.000115955,EXAC_EAS_AF,ALMS1
447360,2:73718397:G>T,NM_015120.4:c.9308G>T,NP_055935.4:p.Ser3105Ile,10/23,\N,Unknown significance,\N,missense_variant,26.7,\N,\N,ALMS1
447361,2:73718404:T>G,NM_015120.4:c.9315T>G,NP_055935.4:p.Pro3107=,10/23,\N,Unknown significance,\N,synonymous_variant,7.687,0.0000149898,EXAC_NFE_AF,ALMS1
447362,2:73718407:A>G,NM_015120.4:c.9318A>G,NP_055935.4:p.Val3108=,10/23,\N,Unknown significance,\N,synonymous_variant,7.286,0.000243427,EVS_EA_AF,ALMS1
447363,2:73718410:A>G,NM_015120.4:c.9321A>G,NP_055935.4:p.Ala3109=,10/23,\N,Unknown significance,\N,synonymous_variant,5.555,0.000231911,EXAC_EAS_AF,ALMS1
447364,2:73718415:A>T,NM_015120.4:c.9326A>T,NP_055935.4:p.Asp3111Val,10/23,\N,Unknown significance,\N,missense_variant,25.4,0.0000149894,EXAC_NFE_AF,ALMS1
447365,2:73718427:T>C,NM_015120.4:c.9338T>C,NP_055935.4:p.Leu3115Ser,10/23,\N,Unknown significance,\N,missense_variant,26,0.0000149894,EXAC_NFE_AF,ALMS1
447366,2:73718428:A>C,NM_015120.4:c.9339A>C,NP_055935.4:p.Leu3115Phe,10/23,\N,Unknown significance,\N,missense_variant,24.5,0.00030631,EXAC_AFR_AF,ALMS1
447367,2:73718431:T>A,NM_015120.4:c.9342T>A,NP_055935.4:p.Gly3116=,10/23,\N,Unknown significance,\N,synonymous_variant,8.091,0.0000149907,EXAC_NFE_AF,ALMS1
447368,2:73718442:C>G,NM_015120.4:c.9353C>G,NP_055935.4:p.Pro3120Arg,10/23,\N,Likely benign,\N,missense_variant,24,0.0000149916,EXAC_NFE_AF,ALMS1
447369,2:73718445:A>C,NM_015120.4:c.9356A>C,NP_055935.4:p.Lys3121Thr,10/23,\N,Unknown significance,\N,missense_variant,24.4,0.000306435,EXAC_AFR_AF,ALMS1
447370,2:73718446:A>G,NM_015120.4:c.9357A>G,NP_055935.4:p.Lys3121=,10/23,\N,Unknown significance,\N,synonymous_variant,5.577,0.000122041,EVS_EA_AF,ALMS1
447371,2:73718453:C>A,NM_015120.4:c.9364C>A,NP_055935.4:p.Leu3124Met,10/23,\N,Likely benign,\N,missense_variant,22.4,0.0000606281,EXAC_SAS_AF,ALMS1
447372,2:73718453:C>T,NM_015120.4:c.9364C>T,NP_055935.4:p.Leu3124=,10/23,\N,Unknown significance,\N,synonymous_variant,9.133,0.0000606281,EXAC_SAS_AF,ALMS1
447373,2:73718456:G>A,NM_015120.4:c.9367G>A,NP_055935.4:p.Asp3125Asn,10/23,\N,Unknown significance,\N,missense_variant,25.2,0.001,1KG_EAS_AF,ALMS1
447374,2:73718457:A>G,NM_015120.4:c.9368A>G,NP_055935.4:p.Asp3125Gly,10/23,\N,Unknown significance,\N,missense_variant,25.3,0.0000299976,EXAC_NFE_AF,ALMS1
447375,2:73718461:C>T,NM_015120.4:c.9372C>T,NP_055935.4:p.Phe3126=,10/23,\N,Unknown significance,\N,synonymous_variant,7.317,0.0000300003,EXAC_NFE_AF,ALMS1
447376,2:73718465:G>A,NM_015120.4:c.9376G>A,NP_055935.4:p.Val3128Ile,10/23,\N,Unknown significance,\N,missense_variant,23.3,\N,\N,ALMS1
447377,2:73718467:C>T,NM_015120.4:c.9378C>T,NP_055935.4:p.Val3128=,10/23,\N,Unknown significance,\N,synonymous_variant,9.484,0.00150812,EXAC_EAS_AF,ALMS1
447378,2:73718468:G>A,NM_015120.4:c.9379G>A,NP_055935.4:p.Val3129Ile,10/23,\N,Likely benign,\N,missense_variant,0.009,0.0000606281,EXAC_SAS_AF,ALMS1
447379,2:73718470:A>G,NM_015120.4:c.9381A>G,NP_055935.4:p.Val3129=,10/23,\N,Unknown significance,\N,synonymous_variant,2.008,0.000464037,EXAC_EAS_AF,ALMS1
447380,2:73718472:A>C,NM_015120.4:c.9383A>C,NP_055935.4:p.Gln3130Pro,10/23,\N,Unknown significance,\N,missense_variant,23.8,0.000122011,EVS_EA_AF,ALMS1
447381,2:73718474:C>T,NM_015120.4:c.9385C>T,NP_055935.4:p.Pro3131Ser,10/23,\N,Likely benign,\N,missense_variant,1.431,0.000015006,EXAC_NFE_AF,ALMS1
447382,2:73718475:C>G,NM_015120.4:c.9386C>G,NP_055935.4:p.Pro3131Arg,10/23,\N,Unknown significance,\N,missense_variant,22.4,0.001,1KG_EUR_AF,ALMS1
447383,2:73718478:C>T,NM_015120.4:c.9389C>T,NP_055935.4:p.Ser3132Phe,10/23,\N,Unknown significance,\N,missense_variant,26.7,0.000102438,EXAC_AFR_AF,ALMS1
447384,2:73718483:C>G,NM_015120.4:c.9394C>G,NP_055935.4:p.Pro3134Ala,10/23,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,ALMS1
447385,2:73718484:C>G,NM_015120.4:c.9395C>G,NP_055935.4:p.Pro3134Arg,10/23,\N,Unknown significance,\N,missense_variant,25.2,0.0000150087,EXAC_NFE_AF,ALMS1
447386,2:73718485:A>G,NM_015120.4:c.9396A>G,NP_055935.4:p.Pro3134=,10/23,\N,Unknown significance,\N,synonymous_variant,4.154,0.0000450248,EXAC_NFE_AF,ALMS1
447387,2:73718493:A>G,NM_015120.4:c.9404A>G,NP_055935.4:p.Asn3137Ser,10/23,\N,Likely benign,\N,missense_variant,3.748,0.0008,1KG_AFR_AF,ALMS1
447388,2:73718496:C>G,NM_015120.4:c.9407C>G,NP_055935.4:p.Thr3138Ser,10/23,\N,Likely benign,\N,missense_variant,6.49,0.000116063,EXAC_EAS_AF,ALMS1
447389,2:73718499:T>G,NM_015120.4:c.9410T>G,NP_055935.4:p.Ile3139Ser,10/23,\N,Unknown significance,\N,missense_variant,25.8,0.0000150177,EXAC_NFE_AF,ALMS1
447390,2:73718518:C>T,NM_015120.4:c.9429C>T,NP_055935.4:p.Thr3145=,10/23,\N,Unknown significance,\N,synonymous_variant,9.445,0.0000606796,EXAC_SAS_AF,ALMS1
447391,2:73718519:A>G,NM_015120.4:c.9430A>G,NP_055935.4:p.Ile3146Val,10/23,\N,Likely benign,\N,missense_variant,4.326,\N,\N,ALMS1
447392,2:73718535:G>A,NM_015120.4:c.9446G>A,NP_055935.4:p.Ser3151Asn,10/23,\N,Unknown significance,\N,missense_variant,25.1,0.00010337,EXAC_AFR_AF,ALMS1
447393,2:73718540:A>G,NM_015120.4:c.9451A>G,NP_055935.4:p.Ile3153Val,10/23,\N,Likely benign,\N,missense_variant,23.1,0.000015063,EXAC_NFE_AF,ALMS1
447394,2:73718546:A>T,NM_015120.4:c.9457A>T,NP_055935.4:p.Thr3155Ser,10/23,\N,Unknown significance,\N,missense_variant,25.5,0.00104022,EXAC_AMR_AF,ALMS1
447395,2:73718553:G>A,NM_015120.4:c.9464G>A,NP_055935.4:p.Arg3157Lys,10/23,\N,Likely benign,\N,missense_variant,13.86,0.0000867604,EXAC_AMR_AF,ALMS1
447396,2:73718563:A>G,NM_015120.4:c.9474A>G,NP_055935.4:p.Gln3160=,10/23,\N,Unknown significance,\N,synonymous_variant,3.311,0.000104123,EXAC_AFR_AF,ALMS1
447397,2:73718564:G>A,NM_015120.4:c.9475G>A,NP_055935.4:p.Val3161Met,10/23,\N,Unknown significance,\N,missense_variant,27.3,\N,\N,ALMS1
447398,2:73718565:T>G,NM_015120.4:c.9476T>G,NP_055935.4:p.Val3161Gly,10/23,\N,Unknown significance,\N,missense_variant,26.6,0.000116496,EXAC_EAS_AF,ALMS1
447399,2:73718566:G>A,NM_015120.4:c.9477G>A,NP_055935.4:p.Val3161=,10/23,\N,Unknown significance,\N,synonymous_variant,11.04,0.0000868659,EXAC_AMR_AF,ALMS1
447400,2:73718568:A>T,NM_015120.4:c.9479A>T,NP_055935.4:p.Asn3162Ile,10/23,\N,Unknown significance,\N,missense_variant,25.9,0.000116496,EXAC_EAS_AF,ALMS1
447401,2:73718569:C>G,NM_015120.4:c.9480C>G,NP_055935.4:p.Asn3162Lys,10/23,\N,Unknown significance,\N,missense_variant,27.1,0.000030196,EXAC_NFE_AF,ALMS1
447402,2:73718570:A>G,NM_015120.4:c.9481A>G,NP_055935.4:p.Ile3163Val,10/23,\N,Unknown significance,\N,missense_variant,23.8,0.000015103,EXAC_NFE_AF,ALMS1
447403,2:73718581:C>G,NM_015120.4:c.9492C>G,NP_055935.4:p.Phe3166Leu,10/23,\N,Likely benign,\N,missense_variant,13.17,\N,\N,ALMS1
447404,2:73718581:C>T,NM_015120.4:c.9492C>T,NP_055935.4:p.Phe3166=,10/23,\N,Unknown significance,\N,synonymous_variant,15.23,0.001,1KG_EUR_AF,ALMS1
447405,2:73718582:G>A,NM_015120.4:c.9493G>A,NP_055935.4:p.Glu3167Lys,10/23,\N,Unknown significance,\N,missense_variant,33,0.0008,1KG_AFR_AF,ALMS1
447406,2:73718585:G>A,NM_015120.4:c.9496G>A,NP_055935.4:p.Gly3168Arg,10/23,\N,Unknown significance,\N,missense_variant,25.7,\N,\N,ALMS1
447407,2:73718597:C>G,NM_015120.4:c.9508C>G,NP_055935.4:p.Pro3172Ala,10/23,\N,Unknown significance,\N,missense_variant,23.5,0.000522739,EXAC_AMR_AF,ALMS1
447408,2:73718600:G>A,NM_015120.4:c.9511G>A,NP_055935.4:p.Glu3173Lys,10/23,\N,Unknown significance,\N,missense_variant,32,0.000105042,EXAC_AFR_AF,ALMS1
447409,2:73718606:A>G,NM_015120.4:c.9517A>G,NP_055935.4:p.Thr3175Ala,10/23,\N,Unknown significance,\N,missense_variant,26.6,0.0000151451,EXAC_NFE_AF,ALMS1
447410,2:73718610:C>T,NM_015120.4:c.9521C>T,NP_055935.4:p.Pro3176Leu,10/23,\N,Unknown significance,\N,missense_variant,30,0.0000610501,EXAC_SAS_AF,ALMS1
447411,2:73718613:T>G,NM_015120.4:c.9524T>G,NP_055935.4:p.Val3177Gly,10/23,\N,Unknown significance,\N,missense_variant,26.4,0.0000873668,EXAC_AMR_AF,ALMS1
447412,2:73718624:C>G,NM_015120.4:c.9535C>G,NP_055935.4:p.Arg3181Gly,10/23,\N,Likely benign,\N,missense_variant&splice_region_variant,19.21,0.002,1KG_SAS_AF,ALMS1
447413,2:73718625:G>A,NM_015120.4:c.9536G>A,NP_055935.4:p.Arg3181Gln,10/23,\N,Unknown significance,\N,missense_variant&splice_region_variant,26,0.0000151879,EXAC_NFE_AF,ALMS1
447414,2:73718634:C>CA,NM_015120.4:c.9536+10dup,\N,\N,10/22,Unknown significance,\N,intron_variant,21.8,\N,\N,ALMS1
447415,2:73718634:C>T,NM_015120.4:c.9536+9C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,21.7,\N,\N,ALMS1
447416,2:73718638:G>C,NM_015120.4:c.9536+13G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,18.78,\N,\N,ALMS1
447417,2:73718645:C>T,NM_015120.4:c.9536+20C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,18.56,0.0000152593,EXAC_NFE_AF,ALMS1
447418,2:73718663:T>A,NM_015120.4:c.9536+38T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,16.75,0.00107643,EVS_AA_AF,ALMS1
447419,2:73718675:G>A,NM_015120.4:c.9536+50G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.33,0.0000626881,EXAC_SAS_AF,ALMS1
447420,2:73718675:G>C,NM_015120.4:c.9536+50G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.027,0.000031141,EXAC_NFE_AF,ALMS1
447421,2:73718698:T>C,NM_015120.4:c.9536+73T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.076,\N,\N,ALMS1
447422,2:73718699:C>T,NM_015120.4:c.9536+74C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.061,0.0031,1KG_SAS_AF,ALMS1
447423,2:73718700:G>A,NM_015120.4:c.9536+75G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.104,\N,\N,ALMS1
447424,2:73718708:G>A,NM_015120.4:c.9536+83G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.051,0.001,1KG_EUR_AF,ALMS1
447425,2:73718718:C>T,NM_015120.4:c.9536+93C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.018,\N,\N,ALMS1
447426,2:73718719:G>A,NM_015120.4:c.9536+94G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.261,\N,\N,ALMS1
447427,2:73718730:C>CT,NM_015120.4:c.9536+106dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447428,2:73718820:A>G,NM_015120.4:c.9536+195A>G,\N,\N,10/22,Benign,\N,intron_variant,8.661,0.0068,1KG_AFR_AF,ALMS1
447429,2:73718856:G>A,NM_015120.4:c.9536+231G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,9.765,0.001,1KG_EAS_AF,ALMS1
447430,2:73718869:TTGAA>T,NM_015120.4:c.9536+248_9536+251del,\N,\N,10/22,Unknown significance,\N,intron_variant,4.527,\N,\N,ALMS1
447431,2:73718907:T>C,NM_015120.4:c.9536+282T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.168,0.0008,1KG_AFR_AF,ALMS1
447432,2:73718915:C>T,NM_015120.4:c.9536+290C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.552,0.001,1KG_EAS_AF,ALMS1
447433,2:73718916:G>A,NM_015120.4:c.9536+291G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.046,0.001,1KG_SAS_AF,ALMS1
447434,2:73718941:T>C,NM_015120.4:c.9536+316T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.954,0.0008,1KG_AFR_AF,ALMS1
447435,2:73718976:C>A,NM_015120.4:c.9536+351C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.152,0.0014,1KG_AMR_AF,ALMS1
447436,2:73719001:C>G,NM_015120.4:c.9536+376C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.396,\N,\N,ALMS1
447437,2:73719002:C>T,NM_015120.4:c.9536+377C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.143,0.0015,1KG_AFR_AF,ALMS1
447438,2:73719003:G>C,NM_015120.4:c.9536+378G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.197,\N,\N,ALMS1
447439,2:73719006:C>T,NM_015120.4:c.9536+381C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.317,\N,\N,ALMS1
447440,2:73719009:CCT>C,NM_015120.4:c.9536+397_9536+398del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447441,2:73719009:CCTCT>C,NM_015120.4:c.9536+395_9536+398del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447442,2:73719033:C>T,NM_015120.4:c.9536+408C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.693,0.003,1KG_EAS_AF,ALMS1
447443,2:73719064:A>G,NM_015120.4:c.9536+439A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.86,0.001,1KG_SAS_AF,ALMS1
447444,2:73719068:A>G,NM_015120.4:c.9536+443A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.388,\N,\N,ALMS1
447445,2:73719078:A>G,NM_015120.4:c.9536+453A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.242,0.0045,1KG_AFR_AF,ALMS1
447446,2:73719119:T>G,NM_015120.4:c.9536+494T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.085,\N,\N,ALMS1
447447,2:73719135:A>G,NM_015120.4:c.9536+510A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.68,\N,\N,ALMS1
447448,2:73719160:T>G,NM_015120.4:c.9536+535T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.464,0.0014,1KG_AMR_AF,ALMS1
447449,2:73719180:T>C,NM_015120.4:c.9536+555T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.306,\N,\N,ALMS1
447450,2:73719217:G>A,NM_015120.4:c.9536+592G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.12,0.001,1KG_EUR_AF,ALMS1
447451,2:73719223:C>T,NM_015120.4:c.9536+598C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.979,0.001,1KG_SAS_AF,ALMS1
447452,2:73719241:C>T,NM_015120.4:c.9536+616C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.819,0.0041,1KG_SAS_AF,ALMS1
447453,2:73719242:G>A,NM_015120.4:c.9536+617G>A,\N,\N,10/22,Benign,\N,intron_variant,0.977,0.0227,1KG_AFR_AF,ALMS1
447454,2:73719270:T>C,NM_015120.4:c.9536+645T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.732,0.002,1KG_EUR_AF,ALMS1
447455,2:73719306:C>A,NM_015120.4:c.9536+681C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.82,0.0023,1KG_AFR_AF,ALMS1
447456,2:73719310:TTATGA>T,NM_015120.4:c.9536+690_9536+694del,\N,\N,10/22,Unknown significance,\N,intron_variant,6.937,\N,\N,ALMS1
447457,2:73719321:T>C,NM_015120.4:c.9536+696T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.849,\N,\N,ALMS1
447458,2:73719338:T>C,NM_015120.4:c.9536+713T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.789,\N,\N,ALMS1
447459,2:73719370:G>C,NM_015120.4:c.9536+745G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.09,0.0008,1KG_AFR_AF,ALMS1
447460,2:73719374:C>T,NM_015120.4:c.9536+749C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.106,\N,\N,ALMS1
447461,2:73719375:G>A,NM_015120.4:c.9536+750G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.703,0.001,1KG_EAS_AF,ALMS1
447462,2:73719409:G>T,NM_015120.4:c.9536+784G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.929,\N,\N,ALMS1
447463,2:73719410:GAAGA>G,NM_015120.4:c.9536+792_9536+795del,\N,\N,10/22,Unknown significance,\N,intron_variant,1.058,\N,\N,ALMS1
447464,2:73719446:A>G,NM_015120.4:c.9536+821A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.164,0.0014,1KG_AMR_AF,ALMS1
447465,2:73719461:A>G,NM_015120.4:c.9536+836A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.486,\N,\N,ALMS1
447466,2:73719479:A>G,NM_015120.4:c.9536+854A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.175,0.001,1KG_SAS_AF,ALMS1
447467,2:73719521:A>G,NM_015120.4:c.9536+896A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.301,\N,\N,ALMS1
447468,2:73719524:T>A,NM_015120.4:c.9536+899T>A,\N,\N,10/22,Benign,\N,intron_variant,3.706,0.0083,1KG_AFR_AF,ALMS1
447469,2:73719529:A>G,NM_015120.4:c.9536+904A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.765,\N,\N,ALMS1
447470,2:73719545:A>G,NM_015120.4:c.9536+920A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.595,0.0008,1KG_AFR_AF,ALMS1
447471,2:73719614:A>T,NM_015120.4:c.9536+989A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.484,\N,\N,ALMS1
447472,2:73719655:T>C,NM_015120.4:c.9536+1030T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1,0.0029,1KG_AMR_AF,ALMS1
447473,2:73719681:C>T,NM_015120.4:c.9536+1056C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.583,0.0008,1KG_AFR_AF,ALMS1
447474,2:73719696:A>G,NM_015120.4:c.9536+1071A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.184,0.001,1KG_SAS_AF,ALMS1
447475,2:73719697:C>T,NM_015120.4:c.9536+1072C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.067,\N,\N,ALMS1
447476,2:73719710:C>G,NM_015120.4:c.9536+1085C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.963,\N,\N,ALMS1
447477,2:73719755:C>G,NM_015120.4:c.9536+1130C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.737,0.0014,1KG_AMR_AF,ALMS1
447478,2:73719761:T>C,NM_015120.4:c.9536+1136T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.364,\N,\N,ALMS1
447479,2:73719794:T>G,NM_015120.4:c.9536+1169T>G,\N,\N,10/22,Benign,\N,intron_variant,8.021,0.006,1KG_EAS_AF,ALMS1
447480,2:73719810:G>A,NM_015120.4:c.9536+1185G>A,\N,\N,10/22,Benign,\N,intron_variant,0.79,0.0454,1KG_AFR_AF,ALMS1
447481,2:73719815:A>G,NM_015120.4:c.9536+1190A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.434,0.0008,1KG_AFR_AF,ALMS1
447482,2:73719828:A>C,NM_015120.4:c.9536+1203A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.286,\N,\N,ALMS1
447483,2:73719852:A>G,NM_015120.4:c.9536+1227A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.562,\N,\N,ALMS1
447484,2:73719864:T>G,NM_015120.4:c.9536+1239T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.27,\N,\N,ALMS1
447485,2:73719869:C>G,NM_015120.4:c.9536+1244C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.477,0.001,1KG_SAS_AF,ALMS1
447486,2:73719874:A>G,NM_015120.4:c.9536+1249A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.46,\N,\N,ALMS1
447487,2:73719875:A>C,NM_015120.4:c.9536+1250A>C,\N,\N,10/22,Benign,\N,intron_variant,9.46,0.5794,1KG_AFR_AF,ALMS1
447488,2:73719877:A>G,NM_015120.4:c.9536+1252A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.21,0.001,1KG_SAS_AF,ALMS1
447489,2:73719893:CAG>C,NM_015120.4:c.9536+1271_9536+1272del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447490,2:73719909:C>T,NM_015120.4:c.9536+1284C>T,\N,\N,10/22,Benign,\N,intron_variant,1.919,0.0053,1KG_AFR_AF,ALMS1
447491,2:73719919:A>G,NM_015120.4:c.9536+1294A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.343,\N,\N,ALMS1
447492,2:73719924:A>G,NM_015120.4:c.9536+1299A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.405,\N,\N,ALMS1
447493,2:73719933:T>G,NM_015120.4:c.9536+1308T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.64,0.003,1KG_EUR_AF,ALMS1
447494,2:73719938:T>C,NM_015120.4:c.9536+1313T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.818,0.001,1KG_EAS_AF,ALMS1
447495,2:73719945:A>G,NM_015120.4:c.9536+1320A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.296,0.0008,1KG_AFR_AF,ALMS1
447496,2:73719951:A>G,NM_015120.4:c.9536+1326A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.136,\N,\N,ALMS1
447497,2:73719956:C>T,NM_015120.4:c.9536+1331C>T,\N,\N,10/22,Benign,\N,intron_variant,2.936,0.005,1KG_EAS_AF,ALMS1
447498,2:73719957:G>A,NM_015120.4:c.9536+1332G>A,\N,\N,10/22,Benign,\N,intron_variant,0.218,0.0153,1KG_SAS_AF,ALMS1
447499,2:73719958:C>T,NM_015120.4:c.9536+1333C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.036,0.004,1KG_EAS_AF,ALMS1
447500,2:73719977:G>A,NM_015120.4:c.9536+1352G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.172,0.0008,1KG_AFR_AF,ALMS1
447501,2:73719979:C>T,NM_015120.4:c.9536+1354C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.785,0.001,1KG_SAS_AF,ALMS1
447502,2:73719993:T>C,NM_015120.4:c.9536+1368T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.932,\N,\N,ALMS1
447503,2:73720001:A>G,NM_015120.4:c.9536+1376A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.148,0.0008,1KG_AFR_AF,ALMS1
447504,2:73720009:C>T,NM_015120.4:c.9536+1384C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.724,0.004,1KG_EAS_AF,ALMS1
447505,2:73720095:TA>T,NM_015120.4:c.9536+1486del,\N,\N,10/22,Benign,\N,intron_variant,9.684,0.5915,1KG_AFR_AF,ALMS1
447506,2:73720095:TAA>T,NM_015120.4:c.9536+1485_9536+1486del,\N,\N,10/22,Benign,\N,intron_variant,9.434,0.2564,1KG_AFR_AF,ALMS1
447507,2:73720095:TAAA>T,NM_015120.4:c.9536+1484_9536+1486del,\N,\N,10/22,Unknown significance,\N,intron_variant,9.182,\N,\N,ALMS1
447508,2:73720127:CAT>C,NM_015120.4:c.9536+1503_9536+1504del,\N,\N,10/22,Unknown significance,\N,intron_variant,9.374,0.003,1KG_AFR_AF,ALMS1
447509,2:73720140:A>G,NM_015120.4:c.9536+1515A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.105,\N,\N,ALMS1
447510,2:73720174:C>A,NM_015120.4:c.9536+1549C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.783,0.001,1KG_EAS_AF,ALMS1
447511,2:73720179:G>A,NM_015120.4:c.9536+1554G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.473,\N,\N,ALMS1
447512,2:73720186:A>G,NM_015120.4:c.9536+1561A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.042,\N,\N,ALMS1
447513,2:73720215:A>G,NM_015120.4:c.9536+1590A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.56,\N,\N,ALMS1
447514,2:73720258:C>A,NM_015120.4:c.9536+1633C>A,\N,\N,10/22,Benign,\N,intron_variant,2.516,0.6029,1KG_AFR_AF,ALMS1
447515,2:73720263:A>G,NM_015120.4:c.9536+1638A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.742,\N,\N,ALMS1
447516,2:73720278:G>A,NM_015120.4:c.9536+1653G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.739,\N,\N,ALMS1
447517,2:73720285:G>A,NM_015120.4:c.9536+1660G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.565,0.0008,1KG_AFR_AF,ALMS1
447518,2:73720302:A>G,NM_015120.4:c.9536+1677A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.84,0.002,1KG_SAS_AF,ALMS1
447519,2:73720333:A>G,NM_015120.4:c.9536+1708A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.798,\N,\N,ALMS1
447520,2:73720337:T>C,NM_015120.4:c.9536+1712T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.483,0.0015,1KG_AFR_AF,ALMS1
447521,2:73720397:C>T,NM_015120.4:c.9536+1772C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.451,\N,\N,ALMS1
447522,2:73720435:A>G,NM_015120.4:c.9536+1810A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.742,\N,\N,ALMS1
447523,2:73720444:A>G,NM_015120.4:c.9536+1819A>G,\N,\N,10/22,Benign,\N,intron_variant,0.271,0.8752,1KG_AFR_AF,ALMS1
447524,2:73720462:A>G,NM_015120.4:c.9536+1837A>G,\N,\N,10/22,Benign,\N,intron_variant,1.599,0.0091,1KG_AFR_AF,ALMS1
447525,2:73720466:G>A,NM_015120.4:c.9536+1841G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.076,\N,\N,ALMS1
447526,2:73720466:G>T,NM_015120.4:c.9536+1841G>T,\N,\N,10/22,Benign,\N,intron_variant,1.675,0.2542,1KG_AFR_AF,ALMS1
447527,2:73720473:T>TAC,NM_015120.4:c.9536+1878_9536+1879dup,\N,\N,10/22,Benign,\N,intron_variant,0.688,0.0893,1KG_EAS_AF,ALMS1
447528,2:73720473:TAC>T,NM_015120.4:c.9536+1878_9536+1879del,\N,\N,10/22,Benign,\N,intron_variant,4.956,0.5204,1KG_AFR_AF,ALMS1
447529,2:73720473:TACAC>T,NM_015120.4:c.9536+1876_9536+1879del,\N,\N,10/22,Benign,\N,intron_variant,4.815,0.1573,1KG_AFR_AF,ALMS1
447530,2:73720474:AC>CA,NM_015120.4:c.9536+1849_9536+1850delinsCA,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447531,2:73720508:G>A,NM_015120.4:c.9536+1883G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.756,0.0015,1KG_AFR_AF,ALMS1
447532,2:73720516:C>CAT,NM_015120.4:c.9536+1901_9536+1902dup,\N,\N,10/22,Benign,\N,intron_variant,\N,0.0089,1KG_EAS_AF,ALMS1
447533,2:73720546:A>T,NM_015120.4:c.9536+1921A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.166,0.001,1KG_EAS_AF,ALMS1
447534,2:73720577:C>T,NM_015120.4:c.9536+1952C>T,\N,\N,10/22,Benign,\N,intron_variant,1.817,0.0643,1KG_AFR_AF,ALMS1
447535,2:73720585:C>G,NM_015120.4:c.9536+1960C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.032,0.003,1KG_AFR_AF,ALMS1
447536,2:73720589:C>T,NM_015120.4:c.9536+1964C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.723,0.0008,1KG_AFR_AF,ALMS1
447537,2:73720631:C>T,NM_015120.4:c.9536+2006C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.647,0.001,1KG_EUR_AF,ALMS1
447538,2:73720661:T>C,NM_015120.4:c.9536+2036T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.189,\N,\N,ALMS1
447539,2:73720715:G>A,NM_015120.4:c.9536+2090G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.303,0.001,1KG_SAS_AF,ALMS1
447540,2:73720780:C>T,NM_015120.4:c.9536+2155C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.23,\N,\N,ALMS1
447541,2:73720797:C>A,NM_015120.4:c.9536+2172C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.248,\N,\N,ALMS1
447542,2:73720817:C>T,NM_015120.4:c.9536+2192C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.937,0.001,1KG_EAS_AF,ALMS1
447543,2:73720841:C>G,NM_015120.4:c.9536+2216C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.947,0.0014,1KG_AMR_AF,ALMS1
447544,2:73720860:T>C,NM_015120.4:c.9536+2235T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.787,\N,\N,ALMS1
447545,2:73720876:A>G,NM_015120.4:c.9536+2251A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.226,0.003,1KG_EUR_AF,ALMS1
447546,2:73720898:G>A,NM_015120.4:c.9536+2273G>A,\N,\N,10/22,Benign,\N,intron_variant,0.598,0.2534,1KG_AFR_AF,ALMS1
447547,2:73720902:A>G,NM_015120.4:c.9536+2277A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.694,\N,\N,ALMS1
447548,2:73720961:T>G,NM_015120.4:c.9536+2336T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.491,0.001,1KG_SAS_AF,ALMS1
447549,2:73720966:CAG>C,NM_015120.4:c.9536+2346_9536+2347del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447550,2:73721000:A>G,NM_015120.4:c.9536+2375A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.447,\N,\N,ALMS1
447551,2:73721001:T>C,NM_015120.4:c.9536+2376T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.307,0.0008,1KG_AFR_AF,ALMS1
447552,2:73721016:T>C,NM_015120.4:c.9536+2391T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.652,0.003,1KG_AFR_AF,ALMS1
447553,2:73721061:A>G,NM_015120.4:c.9536+2436A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.35,\N,\N,ALMS1
447554,2:73721067:C>T,NM_015120.4:c.9536+2442C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,11.19,0.001,1KG_SAS_AF,ALMS1
447555,2:73721104:G>T,NM_015120.4:c.9536+2479G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.981,0.004,1KG_EAS_AF,ALMS1
447556,2:73721111:A>AC,NM_015120.4:c.9536+2487dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447557,2:73721123:C>G,NM_015120.4:c.9536+2498C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.65,\N,\N,ALMS1
447558,2:73721134:G>A,NM_015120.4:c.9536+2509G>A,\N,\N,10/22,Benign,\N,intron_variant,6.371,0.0386,1KG_AFR_AF,ALMS1
447559,2:73721146:G>A,NM_015120.4:c.9536+2521G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,8.821,0.001,1KG_SAS_AF,ALMS1
447560,2:73721176:C>T,NM_015120.4:c.9536+2551C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.29,\N,\N,ALMS1
447561,2:73721207:A>G,NM_015120.4:c.9536+2582A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.704,\N,\N,ALMS1
447562,2:73721208:T>C,NM_015120.4:c.9536+2583T>C,\N,\N,10/22,Benign,\N,intron_variant,7.869,0.0051,1KG_SAS_AF,ALMS1
447563,2:73721250:A>C,NM_015120.4:c.9536+2625A>C,\N,\N,10/22,Benign,\N,intron_variant,9.162,0.2769,1KG_AFR_AF,ALMS1
447564,2:73721324:C>T,NM_015120.4:c.9536+2699C>T,\N,\N,10/22,Benign,\N,intron_variant,11.62,0.0102,1KG_SAS_AF,ALMS1
447565,2:73721326:C>G,NM_015120.4:c.9536+2701C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.52,0.001,1KG_EAS_AF,ALMS1
447566,2:73721360:C>T,NM_015120.4:c.9536+2735C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,12.85,\N,\N,ALMS1
447567,2:73721440:A>G,NM_015120.4:c.9536+2815A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.126,0.0015,1KG_AFR_AF,ALMS1
447568,2:73721448:T>C,NM_015120.4:c.9536+2823T>C,\N,\N,10/22,Benign,\N,intron_variant,0.723,0.0102,1KG_SAS_AF,ALMS1
447569,2:73721451:G>A,NM_015120.4:c.9536+2826G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.645,\N,\N,ALMS1
447570,2:73721452:G>A,NM_015120.4:c.9536+2827G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.275,0.0031,1KG_SAS_AF,ALMS1
447571,2:73721462:A>G,NM_015120.4:c.9536+2837A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.771,0.001,1KG_EUR_AF,ALMS1
447572,2:73721469:G>A,NM_015120.4:c.9536+2844G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.722,0.0008,1KG_AFR_AF,ALMS1
447573,2:73721483:TACTGAAG>T,NM_015120.4:c.9536+2859_9536+2865del,\N,\N,10/22,Benign,\N,intron_variant,9.768,0.028,1KG_AFR_AF,ALMS1
447574,2:73721515:C>A,NM_015120.4:c.9536+2890C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,8.871,0.001,1KG_EAS_AF,ALMS1
447575,2:73721516:G>T,NM_015120.4:c.9536+2891G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.734,\N,\N,ALMS1
447576,2:73721568:A>G,NM_015120.4:c.9536+2943A>G,\N,\N,10/22,Benign,\N,intron_variant,2.201,0.0051,1KG_SAS_AF,ALMS1
447577,2:73721572:C>T,NM_015120.4:c.9536+2947C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.401,0.001,1KG_EUR_AF,ALMS1
447578,2:73721587:T>C,NM_015120.4:c.9536+2962T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.139,0.0008,1KG_AFR_AF,ALMS1
447579,2:73721593:T>A,NM_015120.4:c.9536+2968T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,10.36,0.0015,1KG_AFR_AF,ALMS1
447580,2:73721594:C>T,NM_015120.4:c.9536+2969C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,9.632,\N,\N,ALMS1
447581,2:73721648:C>T,NM_015120.4:c.9536+3023C>T,\N,\N,10/22,Benign,\N,intron_variant,7.623,0.0068,1KG_AFR_AF,ALMS1
447582,2:73721649:G>A,NM_015120.4:c.9536+3024G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.741,0.001,1KG_SAS_AF,ALMS1
447583,2:73721706:C>A,NM_015120.4:c.9536+3081C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,9.746,\N,\N,ALMS1
447584,2:73721706:C>CT,NM_015120.4:c.9536+3088dup,\N,\N,10/22,Benign,\N,intron_variant,9.798,0.0557,1KG_EUR_AF,ALMS1
447585,2:73721720:C>G,NM_015120.4:c.9536+3095C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.863,0.001,1KG_EUR_AF,ALMS1
447586,2:73721730:A>C,NM_015120.4:c.9536+3105A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.906,\N,\N,ALMS1
447587,2:73721767:C>T,NM_015120.4:c.9536+3142C>T,\N,\N,10/22,Benign,\N,intron_variant,9.414,0.6044,1KG_AFR_AF,ALMS1
447588,2:73721804:G>A,NM_015120.4:c.9536+3179G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.625,\N,\N,ALMS1
447589,2:73721858:T>C,NM_015120.4:c.9536+3233T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,6.162,0.0008,1KG_AFR_AF,ALMS1
447590,2:73721861:A>G,NM_015120.4:c.9536+3236A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.762,0.0008,1KG_AFR_AF,ALMS1
447591,2:73721909:A>G,NM_015120.4:c.9536+3284A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.878,0.003,1KG_EUR_AF,ALMS1
447592,2:73721920:C>G,NM_015120.4:c.9536+3295C>G,\N,\N,10/22,Benign,\N,intron_variant,3.917,0.0129,1KG_EAS_AF,ALMS1
447593,2:73721934:T>C,NM_015120.4:c.9536+3309T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.803,\N,\N,ALMS1
447594,2:73721967:G>A,NM_015120.4:c.9536+3342G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.285,0.0014,1KG_AMR_AF,ALMS1
447595,2:73722004:A>C,NM_015120.4:c.9536+3379A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.892,0.0008,1KG_AFR_AF,ALMS1
447596,2:73722020:T>A,NM_015120.4:c.9536+3395T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.456,0.001,1KG_SAS_AF,ALMS1
447597,2:73722025:G>A,NM_015120.4:c.9536+3400G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.594,\N,\N,ALMS1
447598,2:73722027:A>G,NM_015120.4:c.9536+3402A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.625,\N,\N,ALMS1
447599,2:73722069:T>G,NM_015120.4:c.9536+3444T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.718,0.001,1KG_EAS_AF,ALMS1
447600,2:73722102:AT>A,NM_015120.4:c.9536+3480del,\N,\N,10/22,Benign,\N,intron_variant,1.772,0.1853,1KG_AFR_AF,ALMS1
447601,2:73722105:TG>T,NM_015120.4:c.9536+3481del,\N,\N,10/22,Unknown significance,\N,intron_variant,3.703,\N,\N,ALMS1
447602,2:73722126:A>G,NM_015120.4:c.9536+3501A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.053,0.0014,1KG_AMR_AF,ALMS1
447603,2:73722132:A>C,NM_015120.4:c.9536+3507A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.296,0.001,1KG_EUR_AF,ALMS1
447604,2:73722155:C>T,NM_015120.4:c.9536+3530C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.305,0.0014,1KG_AMR_AF,ALMS1
447605,2:73722195:T>G,NM_015120.4:c.9536+3570T>G,\N,\N,10/22,Benign,\N,intron_variant,6.065,0.1311,1KG_AMR_AF,ALMS1
447606,2:73722218:T>C,NM_015120.4:c.9536+3593T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.241,0.0029,1KG_AMR_AF,ALMS1
447607,2:73722240:T>G,NM_015120.4:c.9536+3615T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.945,\N,\N,ALMS1
447608,2:73722250:C>G,NM_015120.4:c.9536+3625C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.02,\N,\N,ALMS1
447609,2:73722267:T>G,NM_015120.4:c.9536+3642T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.423,0.001,1KG_EUR_AF,ALMS1
447610,2:73722293:C>T,NM_015120.4:c.9536+3668C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.222,\N,\N,ALMS1
447611,2:73722308:G>A,NM_015120.4:c.9536+3683G>A,\N,\N,10/22,Benign,\N,intron_variant,1.968,0.0711,1KG_AFR_AF,ALMS1
447612,2:73722309:A>G,NM_015120.4:c.9536+3684A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.692,\N,\N,ALMS1
447613,2:73722318:C>A,NM_015120.4:c.9536+3693C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.208,0.001,1KG_EUR_AF,ALMS1
447614,2:73722328:A>G,NM_015120.4:c.9536+3703A>G,\N,\N,10/22,Benign,\N,intron_variant,1.396,0.0053,1KG_AFR_AF,ALMS1
447615,2:73722330:T>TA,NM_015120.4:c.9536+3710dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447616,2:73722347:A>ATTG,NM_015120.4:c.9536+3740_9536+3742dup,\N,\N,10/22,Unknown significance,\N,intron_variant,0.08,\N,\N,ALMS1
447617,2:73722347:ATTG>A,NM_015120.4:c.9536+3740_9536+3742del,\N,\N,10/22,Benign,\N,intron_variant,1.628,0.0143,1KG_SAS_AF,ALMS1
447618,2:73722359:G>T,NM_015120.4:c.9536+3734G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.323,\N,\N,ALMS1
447619,2:73722363:T>C,NM_015120.4:c.9536+3738T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.704,0.001,1KG_EUR_AF,ALMS1
447620,2:73722382:G>A,NM_015120.4:c.9536+3757G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.473,0.001,1KG_EUR_AF,ALMS1
447621,2:73722385:G>A,NM_015120.4:c.9536+3760G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.18,\N,\N,ALMS1
447622,2:73722406:G>A,NM_015120.4:c.9536+3781G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.485,\N,\N,ALMS1
447623,2:73722423:G>A,NM_015120.4:c.9536+3798G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.863,\N,\N,ALMS1
447624,2:73722445:T>C,NM_015120.4:c.9536+3820T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,6.143,\N,\N,ALMS1
447625,2:73722465:A>G,NM_015120.4:c.9536+3840A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.553,0.0014,1KG_AMR_AF,ALMS1
447626,2:73722470:A>C,NM_015120.4:c.9536+3845A>C,\N,\N,10/22,Benign,\N,intron_variant,1.224,0.0173,1KG_AMR_AF,ALMS1
447627,2:73722471:C>G,NM_015120.4:c.9536+3846C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.197,0.0015,1KG_AFR_AF,ALMS1
447628,2:73722480:G>A,NM_015120.4:c.9536+3855G>A,\N,\N,10/22,Benign,\N,intron_variant,1.624,0.0227,1KG_AFR_AF,ALMS1
447629,2:73722519:A>G,NM_015120.4:c.9536+3894A>G,\N,\N,10/22,Benign,\N,intron_variant,1.048,1,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ALMS1
447630,2:73722551:C>G,NM_015120.4:c.9536+3926C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.939,0.0015,1KG_AFR_AF,ALMS1
447631,2:73722565:G>T,NM_015120.4:c.9536+3940G>T,\N,\N,10/22,Benign,\N,intron_variant,6.93,0.0068,1KG_AFR_AF,ALMS1
447632,2:73722572:A>G,NM_015120.4:c.9536+3947A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.03,0.001,1KG_SAS_AF,ALMS1
447633,2:73722578:G>T,NM_015120.4:c.9536+3953G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.683,0.001,1KG_SAS_AF,ALMS1
447634,2:73722607:C>T,NM_015120.4:c.9536+3982C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.845,\N,\N,ALMS1
447635,2:73722662:CA>C,NM_015120.4:c.9536+4043del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447636,2:73722708:G>A,NM_015120.4:c.9536+4083G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.922,\N,\N,ALMS1
447637,2:73722733:T>C,NM_015120.4:c.9536+4108T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.417,0.0043,1KG_AMR_AF,ALMS1
447638,2:73722735:C>T,NM_015120.4:c.9536+4110C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.215,0.0014,1KG_AMR_AF,ALMS1
447639,2:73722739:T>C,NM_015120.4:c.9536+4114T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.074,0.001,1KG_EUR_AF,ALMS1
447640,2:73722814:A>G,NM_015120.4:c.9536+4189A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.771,\N,\N,ALMS1
447641,2:73722824:T>G,NM_015120.4:c.9536+4199T>G,\N,\N,10/22,Benign,\N,intron_variant,5.912,0.134,1KG_AMR_AF,ALMS1
447642,2:73722834:A>G,NM_015120.4:c.9536+4209A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.985,\N,\N,ALMS1
447643,2:73722843:C>T,NM_015120.4:c.9536+4218C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.435,0.001,1KG_EUR_AF,ALMS1
447644,2:73722844:G>T,NM_015120.4:c.9536+4219G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.015,\N,\N,ALMS1
447645,2:73722846:G>T,NM_015120.4:c.9536+4221G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.532,\N,\N,ALMS1
447646,2:73722847:T>A,NM_015120.4:c.9536+4222T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.14,\N,\N,ALMS1
447647,2:73722852:G>A,NM_015120.4:c.9536+4227G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.842,\N,\N,ALMS1
447648,2:73722863:CAT>C,NM_015120.4:c.9536+4239_9536+4240del,\N,\N,10/22,Unknown significance,\N,intron_variant,3.611,0.003,1KG_AFR_AF,ALMS1
447649,2:73722872:A>G,NM_015120.4:c.9536+4247A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.57,\N,\N,ALMS1
447650,2:73722908:G>A,NM_015120.4:c.9536+4283G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.496,\N,\N,ALMS1
447651,2:73722925:C>T,NM_015120.4:c.9536+4300C>T,\N,\N,10/22,Benign,\N,intron_variant,6.646,0.0673,1KG_AFR_AF,ALMS1
447652,2:73722970:G>T,NM_015120.4:c.9536+4345G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.363,\N,\N,ALMS1
447653,2:73722975:CATT>C,NM_015120.4:c.9536+4353_9536+4355del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447654,2:73722980:T>A,NM_015120.4:c.9536+4355T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.225,0.0029,1KG_AMR_AF,ALMS1
447655,2:73722990:A>T,NM_015120.4:c.9536+4365A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.482,0.001,1KG_EAS_AF,ALMS1
447656,2:73723038:A>G,NM_015120.4:c.9536+4413A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.465,0.003,1KG_EAS_AF,ALMS1
447657,2:73723041:A>C,NM_015120.4:c.9536+4416A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.073,0.001,1KG_EUR_AF,ALMS1
447658,2:73723056:A>G,NM_015120.4:c.9536+4431A>G,\N,\N,10/22,Benign,\N,intron_variant,2.27,0.005,1KG_EAS_AF,ALMS1
447659,2:73723060:A>G,NM_015120.4:c.9536+4435A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.231,\N,\N,ALMS1
447660,2:73723076:C>T,NM_015120.4:c.9536+4451C>T,\N,\N,10/22,Benign,\N,intron_variant,1.64,0.005,1KG_EAS_AF,ALMS1
447661,2:73723085:C>G,NM_015120.4:c.9536+4460C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.721,\N,\N,ALMS1
447662,2:73723108:G>A,NM_015120.4:c.9536+4483G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.215,0.0008,1KG_AFR_AF,ALMS1
447663,2:73723130:G>T,NM_015120.4:c.9536+4505G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.543,\N,\N,ALMS1
447664,2:73723177:C>T,NM_015120.4:c.9536+4552C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.547,\N,\N,ALMS1
447665,2:73723185:A>T,NM_015120.4:c.9536+4560A>T,\N,\N,10/22,Benign,\N,intron_variant,1.587,0.6755,1KG_AFR_AF,ALMS1
447666,2:73723208:C>T,NM_015120.4:c.9536+4583C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.461,\N,\N,ALMS1
447667,2:73723253:A>G,NM_015120.4:c.9536+4628A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.336,0.0014,1KG_AMR_AF,ALMS1
447668,2:73723261:C>T,NM_015120.4:c.9536+4636C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.149,\N,\N,ALMS1
447669,2:73723262:G>T,NM_015120.4:c.9536+4637G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.361,0.0029,1KG_AMR_AF,ALMS1
447670,2:73723269:T>C,NM_015120.4:c.9536+4644T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.975,0.002,1KG_EAS_AF,ALMS1
447671,2:73723294:A>G,NM_015120.4:c.9536+4669A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.967,0.0014,1KG_AMR_AF,ALMS1
447672,2:73723299:A>G,NM_015120.4:c.9536+4674A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.38,\N,\N,ALMS1
447673,2:73723309:A>G,NM_015120.4:c.9536+4684A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.979,0.0008,1KG_AFR_AF,ALMS1
447674,2:73723402:C>T,NM_015120.4:c.9536+4777C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.705,\N,\N,ALMS1
447675,2:73723406:G>C,NM_015120.4:c.9536+4781G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.795,\N,\N,ALMS1
447676,2:73723415:TCTTC>T,NM_015120.4:c.9536+4794_9536+4797del,\N,\N,10/22,Benign,\N,intron_variant,4.379,0.0069,1KG_EAS_AF,ALMS1
447677,2:73723416:C>T,NM_015120.4:c.9536+4791C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.53,\N,\N,ALMS1
447678,2:73723433:C>T,NM_015120.4:c.9536+4808C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.553,0.0008,1KG_AFR_AF,ALMS1
447679,2:73723476:G>A,NM_015120.4:c.9536+4851G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.399,0.0008,1KG_AFR_AF,ALMS1
447680,2:73723515:T>C,NM_015120.4:c.9536+4890T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.035,0.0038,1KG_AFR_AF,ALMS1
447681,2:73723521:A>T,NM_015120.4:c.9536+4896A>T,\N,\N,10/22,Benign,\N,intron_variant,1.114,0.0051,1KG_SAS_AF,ALMS1
447682,2:73723543:G>A,NM_015120.4:c.9536+4918G>A,\N,\N,10/22,Benign,\N,intron_variant,1.647,0.0393,1KG_AFR_AF,ALMS1
447683,2:73723569:C>T,NM_015120.4:c.9536+4944C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.889,0.001,1KG_SAS_AF,ALMS1
447684,2:73723607:C>T,NM_015120.4:c.9536+4982C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,9.874,\N,\N,ALMS1
447685,2:73723648:A>G,NM_015120.4:c.9536+5023A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.173,0.0008,1KG_AFR_AF,ALMS1
447686,2:73723654:A>C,NM_015120.4:c.9536+5029A>C,\N,\N,10/22,Benign,\N,intron_variant,9.033,0.0166,1KG_AFR_AF,ALMS1
447687,2:73723665:T>C,NM_015120.4:c.9536+5040T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,10.87,\N,\N,ALMS1
447688,2:73723782:A>C,NM_015120.4:c.9536+5157A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,12.03,0.0008,1KG_AFR_AF,ALMS1
447689,2:73723783:A>G,NM_015120.4:c.9536+5158A>G,\N,\N,10/22,Benign,\N,intron_variant,13.5,0.0079,1KG_EAS_AF,ALMS1
447690,2:73723812:T>G,NM_015120.4:c.9536+5187T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,16.16,\N,\N,ALMS1
447691,2:73723833:G>C,NM_015120.4:c.9536+5208G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.22,\N,\N,ALMS1
447692,2:73723865:G>A,NM_015120.4:c.9536+5240G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.71,0.001,1KG_EUR_AF,ALMS1
447693,2:73723884:T>C,NM_015120.4:c.9536+5259T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,7.844,\N,\N,ALMS1
447694,2:73723896:T>C,NM_015120.4:c.9536+5271T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,9.904,0.001,1KG_EAS_AF,ALMS1
447695,2:73723907:T>G,NM_015120.4:c.9536+5282T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,12.41,0.001,1KG_EAS_AF,ALMS1
447696,2:73723959:A>G,NM_015120.4:c.9536+5334A>G,\N,\N,10/22,Benign,\N,intron_variant,11.42,0.441,1KG_AFR_AF,ALMS1
447697,2:73723962:A>G,NM_015120.4:c.9536+5337A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11,0.0041,1KG_SAS_AF,ALMS1
447698,2:73723969:A>G,NM_015120.4:c.9536+5344A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.855,\N,\N,ALMS1
447699,2:73723999:C>G,NM_015120.4:c.9536+5374C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.688,\N,\N,ALMS1
447700,2:73724020:A>G,NM_015120.4:c.9536+5395A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.08,0.0008,1KG_AFR_AF,ALMS1
447701,2:73724023:G>A,NM_015120.4:c.9536+5398G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.74,\N,\N,ALMS1
447702,2:73724029:T>TC,NM_015120.4:c.9536+5404_9536+5405insC,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447703,2:73724040:A>G,NM_015120.4:c.9536+5415A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,13.66,\N,\N,ALMS1
447704,2:73724041:T>C,NM_015120.4:c.9536+5416T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,12.79,\N,\N,ALMS1
447705,2:73724078:C>T,NM_015120.4:c.9536+5453C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,14.22,\N,\N,ALMS1
447706,2:73724113:C>T,NM_015120.4:c.9536+5488C>T,\N,\N,10/22,Benign,\N,intron_variant,13.38,0.1326,1KG_AMR_AF,ALMS1
447707,2:73724116:C>T,NM_015120.4:c.9536+5491C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,12.96,\N,\N,ALMS1
447708,2:73724122:A>G,NM_015120.4:c.9536+5497A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.46,\N,\N,ALMS1
447709,2:73724148:A>T,NM_015120.4:c.9536+5523A>T,\N,\N,10/22,Benign,\N,intron_variant,6.037,0.0069,1KG_EAS_AF,ALMS1
447710,2:73724171:G>T,NM_015120.4:c.9536+5546G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.469,0.0041,1KG_SAS_AF,ALMS1
447711,2:73724214:A>T,NM_015120.4:c.9536+5589A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.575,0.001,1KG_EAS_AF,ALMS1
447712,2:73724236:ACTTTC>A,NM_015120.4:c.9536+5617_9536+5621del,\N,\N,10/22,Unknown significance,\N,intron_variant,3.592,\N,\N,ALMS1
447713,2:73724269:T>C,NM_015120.4:c.9536+5644T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.821,\N,\N,ALMS1
447714,2:73724270:C>G,NM_015120.4:c.9536+5645C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.749,0.001,1KG_EAS_AF,ALMS1
447715,2:73724311:T>G,NM_015120.4:c.9536+5686T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.698,0.0014,1KG_AMR_AF,ALMS1
447716,2:73724340:A>G,NM_015120.4:c.9536+5715A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.062,0.0023,1KG_AFR_AF,ALMS1
447717,2:73724347:A>T,NM_015120.4:c.9536+5722A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.312,\N,\N,ALMS1
447718,2:73724361:A>G,NM_015120.4:c.9536+5736A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.924,0.0008,1KG_AFR_AF,ALMS1
447719,2:73724394:T>C,NM_015120.4:c.9536+5769T>C,\N,\N,10/22,Benign,\N,intron_variant,3.499,0.0461,1KG_AFR_AF,ALMS1
447720,2:73724398:G>T,NM_015120.4:c.9536+5773G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.909,0.001,1KG_EAS_AF,ALMS1
447721,2:73724402:T>C,NM_015120.4:c.9536+5777T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.034,\N,\N,ALMS1
447722,2:73724420:TA>T,NM_015120.4:c.9536+5797del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447723,2:73724431:T>A,NM_015120.4:c.9536+5806T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.043,0.0015,1KG_AFR_AF,ALMS1
447724,2:73724444:A>T,NM_015120.4:c.9536+5819A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.949,\N,\N,ALMS1
447725,2:73724474:A>G,NM_015120.4:c.9536+5849A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.108,0.0014,1KG_AMR_AF,ALMS1
447726,2:73724475:T>C,NM_015120.4:c.9536+5850T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.122,\N,\N,ALMS1
447727,2:73724540:C>G,NM_015120.4:c.9536+5915C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.862,\N,\N,ALMS1
447728,2:73724601:C>G,NM_015120.4:c.9536+5976C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.988,0.001,1KG_EUR_AF,ALMS1
447729,2:73724625:A>G,NM_015120.4:c.9536+6000A>G,\N,\N,10/22,Benign,\N,intron_variant,4.879,0.0053,1KG_AFR_AF,ALMS1
447730,2:73724632:C>T,NM_015120.4:c.9536+6007C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.086,0.002,1KG_EUR_AF,ALMS1
447731,2:73724675:T>C,NM_015120.4:c.9536+6050T>C,\N,\N,10/22,Benign,\N,intron_variant,3.853,0.6044,1KG_AFR_AF,ALMS1
447732,2:73724679:A>T,NM_015120.4:c.9536+6054A>T,\N,\N,10/22,Benign,\N,intron_variant,3.234,0.8986,1KG_AFR_AF,ALMS1
447733,2:73724713:C>T,NM_015120.4:c.9536+6088C>T,\N,\N,10/22,Benign,\N,intron_variant,0.098,0.0072,1KG_SAS_AF,ALMS1
447734,2:73724714:G>A,NM_015120.4:c.9536+6089G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.074,0.0014,1KG_AMR_AF,ALMS1
447735,2:73724716:T>C,NM_015120.4:c.9536+6091T>C,\N,\N,10/22,Benign,\N,intron_variant,0.059,0.0072,1KG_SAS_AF,ALMS1
447736,2:73724786:A>T,NM_015120.4:c.9536+6161A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.258,0.001,1KG_SAS_AF,ALMS1
447737,2:73724895:A>G,NM_015120.4:c.9536+6270A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.969,0.002,1KG_EUR_AF,ALMS1
447738,2:73724957:T>C,NM_015120.4:c.9536+6332T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,9.858,\N,\N,ALMS1
447739,2:73724972:A>G,NM_015120.4:c.9536+6347A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.28,0.001,1KG_EUR_AF,ALMS1
447740,2:73724982:C>T,NM_015120.4:c.9536+6357C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.68,0.002,1KG_EAS_AF,ALMS1
447741,2:73725014:T>G,NM_015120.4:c.9536+6389T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.378,\N,\N,ALMS1
447742,2:73725021:C>A,NM_015120.4:c.9536+6396C>A,\N,\N,10/22,Benign,\N,intron_variant,0.02,0.0239,1KG_EUR_AF,ALMS1
447743,2:73725065:A>G,NM_015120.4:c.9536+6440A>G,\N,\N,10/22,Benign,\N,intron_variant,6.453,0.0393,1KG_AFR_AF,ALMS1
447744,2:73725092:A>C,NM_015120.4:c.9536+6467A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.095,0.002,1KG_EUR_AF,ALMS1
447745,2:73725108:C>G,NM_015120.4:c.9536+6483C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.459,\N,\N,ALMS1
447746,2:73725127:C>T,NM_015120.4:c.9536+6502C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.595,\N,\N,ALMS1
447747,2:73725128:G>A,NM_015120.4:c.9536+6503G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.744,0.001,1KG_EUR_AF,ALMS1
447748,2:73725168:G>T,NM_015120.4:c.9536+6543G>T,\N,\N,10/22,Benign,\N,intron_variant,0.455,0.8986,1KG_AFR_AF,ALMS1
447749,2:73725192:A>G,NM_015120.4:c.9536+6567A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.704,\N,\N,ALMS1
447750,2:73725216:C>T,NM_015120.4:c.9536+6591C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.304,\N,\N,ALMS1
447751,2:73725290:G>A,NM_015120.4:c.9536+6665G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.64,\N,\N,ALMS1
447752,2:73725311:A>G,NM_015120.4:c.9536+6686A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.54,0.0015,1KG_AFR_AF,ALMS1
447753,2:73725316:T>TA,NM_015120.4:c.9536+6692dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447754,2:73725326:T>C,NM_015120.4:c.9536+6701T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,11.83,0.0008,1KG_AFR_AF,ALMS1
447755,2:73725335:G>A,NM_015120.4:c.9536+6710G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.26,0.0029,1KG_AMR_AF,ALMS1
447756,2:73725337:T>C,NM_015120.4:c.9536+6712T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,11.92,0.0014,1KG_AMR_AF,ALMS1
447757,2:73725387:CT>C,NM_015120.4:c.9536+6773del,\N,\N,10/22,Unknown significance,\N,intron_variant,0.421,\N,\N,ALMS1
447758,2:73725399:C>A,NM_015120.4:c.9536+6774C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.205,\N,\N,ALMS1
447759,2:73725419:C>T,NM_015120.4:c.9536+6794C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.583,0.0023,1KG_AFR_AF,ALMS1
447760,2:73725434:T>C,NM_015120.4:c.9536+6809T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.537,\N,\N,ALMS1
447761,2:73725495:G>T,NM_015120.4:c.9536+6870G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.827,\N,\N,ALMS1
447762,2:73725500:G>A,NM_015120.4:c.9536+6875G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.526,0.0023,1KG_AFR_AF,ALMS1
447763,2:73725544:T>C,NM_015120.4:c.9536+6919T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.241,0.0008,1KG_AFR_AF,ALMS1
447764,2:73725570:T>G,NM_015120.4:c.9536+6945T>G,\N,\N,10/22,Benign,\N,intron_variant,4.915,0.006,1KG_EUR_AF,ALMS1
447765,2:73725574:C>T,NM_015120.4:c.9536+6949C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.654,0.002,1KG_EAS_AF,ALMS1
447766,2:73725627:T>C,NM_015120.4:c.9536+7002T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.878,\N,\N,ALMS1
447767,2:73725638:T>TTG,NM_015120.4:c.9536+7032_9536+7033dup,\N,\N,10/22,Benign,\N,intron_variant,3.126,0.3911,1KG_AFR_AF,ALMS1
447768,2:73725638:TTG>T,NM_015120.4:c.9536+7032_9536+7033del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447769,2:73725644:G>A,NM_015120.4:c.9536+7019G>A,\N,\N,10/22,Benign,\N,intron_variant,1.678,0.0189,1KG_AFR_AF,ALMS1
447770,2:73725655:T>TGC,NM_015120.4:c.9536+7031_9536+7032insCG,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447771,2:73725655:T>TGTGC,NM_015120.4:c.9536+7031_9536+7034dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447772,2:73725655:T>TGTGTGC,NM_015120.4:c.9536+7033_9536+7034insTGCGTG,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447773,2:73725662:A>G,NM_015120.4:c.9536+7037A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.287,\N,\N,ALMS1
447774,2:73725684:C>G,NM_015120.4:c.9536+7059C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.026,0.0014,1KG_AMR_AF,ALMS1
447775,2:73725703:C>T,NM_015120.4:c.9536+7078C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.399,\N,\N,ALMS1
447776,2:73725741:A>G,NM_015120.4:c.9536+7116A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.992,\N,\N,ALMS1
447777,2:73725772:A>G,NM_015120.4:c.9536+7147A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.337,\N,\N,ALMS1
447778,2:73725777:T>G,NM_015120.4:c.9536+7152T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.16,\N,\N,ALMS1
447779,2:73725801:CT>C,NM_015120.4:c.9536+7181del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447780,2:73725805:T>C,NM_015120.4:c.9536+7180T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.892,0.001,1KG_EUR_AF,ALMS1
447781,2:73725824:T>C,NM_015120.4:c.9536+7199T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.369,0.002,1KG_EAS_AF,ALMS1
447782,2:73725838:C>T,NM_015120.4:c.9536+7213C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.826,0.001,1KG_SAS_AF,ALMS1
447783,2:73725855:T>C,NM_015120.4:c.9536+7230T>C,\N,\N,10/22,Benign,\N,intron_variant,8.359,0.0061,1KG_SAS_AF,ALMS1
447784,2:73725874:C>G,NM_015120.4:c.9536+7249C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.233,\N,\N,ALMS1
447785,2:73725887:A>G,NM_015120.4:c.9536+7262A>G,\N,\N,10/22,Benign,\N,intron_variant,5.856,0.0256,1KG_SAS_AF,ALMS1
447786,2:73725916:G>T,NM_015120.4:c.9536+7291G>T,\N,\N,10/22,Benign,\N,intron_variant,9.311,0.1758,1KG_AMR_AF,ALMS1
447787,2:73725935:A>G,NM_015120.4:c.9536+7310A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.55,0.0014,1KG_AMR_AF,ALMS1
447788,2:73725950:C>T,NM_015120.4:c.9536+7325C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.023,0.001,1KG_EAS_AF,ALMS1
447789,2:73725964:G>A,NM_015120.4:c.9536+7339G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.365,0.001,1KG_SAS_AF,ALMS1
447790,2:73726001:T>C,NM_015120.4:c.9536+7376T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.037,\N,\N,ALMS1
447791,2:73726011:T>C,NM_015120.4:c.9536+7386T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.818,\N,\N,ALMS1
447792,2:73726019:G>A,NM_015120.4:c.9536+7394G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.339,\N,\N,ALMS1
447793,2:73726039:A>C,NM_015120.4:c.9536+7414A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.966,0.0015,1KG_AFR_AF,ALMS1
447794,2:73726076:G>T,NM_015120.4:c.9536+7451G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,11.61,\N,\N,ALMS1
447795,2:73726135:A>G,NM_015120.4:c.9536+7510A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.23,\N,\N,ALMS1
447796,2:73726151:A>G,NM_015120.4:c.9536+7526A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.05,\N,\N,ALMS1
447797,2:73726197:C>A,NM_015120.4:c.9536+7572C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,10.08,\N,\N,ALMS1
447798,2:73726202:G>T,NM_015120.4:c.9536+7577G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.761,0.0029,1KG_AMR_AF,ALMS1
447799,2:73726205:C>G,NM_015120.4:c.9536+7580C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.827,0.0008,1KG_AFR_AF,ALMS1
447800,2:73726218:G>A,NM_015120.4:c.9536+7593G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.624,\N,\N,ALMS1
447801,2:73726218:G>T,NM_015120.4:c.9536+7593G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.221,0.001,1KG_SAS_AF,ALMS1
447802,2:73726315:G>T,NM_015120.4:c.9536+7690G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.475,0.001,1KG_EUR_AF,ALMS1
447803,2:73726318:T>C,NM_015120.4:c.9536+7693T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,9.051,0.0015,1KG_AFR_AF,ALMS1
447804,2:73726321:A>G,NM_015120.4:c.9536+7696A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.206,\N,\N,ALMS1
447805,2:73726388:G>A,NM_015120.4:c.9536+7763G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,9.374,\N,\N,ALMS1
447806,2:73726397:T>G,NM_015120.4:c.9536+7772T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.64,0.0031,1KG_SAS_AF,ALMS1
447807,2:73726429:T>C,NM_015120.4:c.9536+7804T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,11.69,0.001,1KG_EAS_AF,ALMS1
447808,2:73726441:T>C,NM_015120.4:c.9536+7816T>C,\N,\N,10/22,Benign,\N,intron_variant,12.76,0.0295,1KG_AFR_AF,ALMS1
447809,2:73726460:T>G,NM_015120.4:c.9536+7835T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.73,0.001,1KG_EAS_AF,ALMS1
447810,2:73726470:C>T,NM_015120.4:c.9536+7845C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,14.79,\N,\N,ALMS1
447811,2:73726530:G>T,NM_015120.4:c.9536+7905G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,12.7,\N,\N,ALMS1
447812,2:73726562:A>T,NM_015120.4:c.9536+7937A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.59,\N,\N,ALMS1
447813,2:73726576:C>T,NM_015120.4:c.9536+7951C>T,\N,\N,10/22,Benign,\N,intron_variant,9.399,0.0439,1KG_AFR_AF,ALMS1
447814,2:73726605:A>G,NM_015120.4:c.9536+7980A>G,\N,\N,10/22,Benign,\N,intron_variant,3.926,0.8782,1KG_AFR_AF,ALMS1
447815,2:73726609:G>T,NM_015120.4:c.9536+7984G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.993,0.0014,1KG_AMR_AF,ALMS1
447816,2:73726662:G>A,NM_015120.4:c.9536+8037G>A,\N,\N,10/22,Benign,\N,intron_variant,3.879,0.2761,1KG_AFR_AF,ALMS1
447817,2:73726670:T>C,NM_015120.4:c.9536+8045T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.113,0.0015,1KG_AFR_AF,ALMS1
447818,2:73726701:G>A,NM_015120.4:c.9536+8076G>A,\N,\N,10/22,Benign,\N,intron_variant,0.526,0.0557,1KG_EUR_AF,ALMS1
447819,2:73726726:T>G,NM_015120.4:c.9536+8101T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.19,0.0043,1KG_AMR_AF,ALMS1
447820,2:73726730:T>C,NM_015120.4:c.9536+8105T>C,\N,\N,10/22,Benign,\N,intron_variant,10.04,0.0133,1KG_SAS_AF,ALMS1
447821,2:73726750:T>C,NM_015120.4:c.9536+8125T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.429,0.002,1KG_EAS_AF,ALMS1
447822,2:73726755:A>G,NM_015120.4:c.9536+8130A>G,\N,\N,10/22,Benign,\N,intron_variant,8.697,0.0119,1KG_EAS_AF,ALMS1
447823,2:73726784:G>C,NM_015120.4:c.9536+8159G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.247,0.0023,1KG_AFR_AF,ALMS1
447824,2:73726806:A>G,NM_015120.4:c.9536+8181A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.23,0.0014,1KG_AMR_AF,ALMS1
447825,2:73726808:A>G,NM_015120.4:c.9536+8183A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.67,\N,\N,ALMS1
447826,2:73726825:C>T,NM_015120.4:c.9536+8200C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.875,0.0014,1KG_AMR_AF,ALMS1
447827,2:73726846:C>T,NM_015120.4:c.9536+8221C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.503,0.0008,1KG_AFR_AF,ALMS1
447828,2:73726890:G>A,NM_015120.4:c.9536+8265G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,9.341,\N,\N,ALMS1
447829,2:73726899:C>T,NM_015120.4:c.9536+8274C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,9.69,\N,\N,ALMS1
447830,2:73726902:A>G,NM_015120.4:c.9536+8277A>G,\N,\N,10/22,Benign,\N,intron_variant,9.471,0.1441,1KG_AMR_AF,ALMS1
447831,2:73726925:G>A,NM_015120.4:c.9536+8300G>A,\N,\N,10/22,Benign,\N,intron_variant,7.924,0.008,1KG_EUR_AF,ALMS1
447832,2:73726930:A>G,NM_015120.4:c.9536+8305A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.288,\N,\N,ALMS1
447833,2:73726957:C>A,NM_015120.4:c.9536+8332C>A,\N,\N,10/22,Benign,\N,intron_variant,1.205,0.0069,1KG_EAS_AF,ALMS1
447834,2:73727032:G>A,NM_015120.4:c.9536+8407G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.849,\N,\N,ALMS1
447835,2:73727043:C>G,NM_015120.4:c.9536+8418C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.509,0.002,1KG_EUR_AF,ALMS1
447836,2:73727044:C>G,NM_015120.4:c.9536+8419C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.441,\N,\N,ALMS1
447837,2:73727085:C>A,NM_015120.4:c.9536+8460C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.376,\N,\N,ALMS1
447838,2:73727125:C>A,NM_015120.4:c.9536+8500C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.8,\N,\N,ALMS1
447839,2:73727216:T>A,NM_015120.4:c.9536+8591T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.609,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
447840,2:73727260:G>A,NM_015120.4:c.9536+8635G>A,\N,\N,10/22,Benign,\N,intron_variant,2.457,0.0182,1KG_AFR_AF,ALMS1
447841,2:73727281:G>A,NM_015120.4:c.9536+8656G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.203,\N,\N,ALMS1
447842,2:73727312:A>G,NM_015120.4:c.9536+8687A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.085,0.001,1KG_EUR_AF,ALMS1
447843,2:73727314:A>G,NM_015120.4:c.9536+8689A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.285,0.002,1KG_SAS_AF,ALMS1
447844,2:73727350:C>T,NM_015120.4:c.9536+8725C>T,\N,\N,10/22,Benign,\N,intron_variant,2.979,0.0272,1KG_AFR_AF,ALMS1
447845,2:73727351:C>G,NM_015120.4:c.9536+8726C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.915,\N,\N,ALMS1
447846,2:73727360:T>C,NM_015120.4:c.9536+8735T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.577,0.001,1KG_SAS_AF,ALMS1
447847,2:73727374:TC>T,NM_015120.4:c.9536+8751del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447848,2:73727383:C>T,NM_015120.4:c.9536+8758C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.303,0.001,1KG_EUR_AF,ALMS1
447849,2:73727396:G>T,NM_015120.4:c.9536+8771G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.421,\N,\N,ALMS1
447850,2:73727399:G>T,NM_015120.4:c.9536+8774G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.939,0.001,1KG_SAS_AF,ALMS1
447851,2:73727432:A>T,NM_015120.4:c.9536+8807A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.929,\N,\N,ALMS1
447852,2:73727455:G>A,NM_015120.4:c.9536+8830G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.146,0.001,1KG_SAS_AF,ALMS1
447853,2:73727481:A>G,NM_015120.4:c.9536+8856A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.191,\N,\N,ALMS1
447854,2:73727483:G>A,NM_015120.4:c.9536+8858G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,8.521,0.003,1KG_AFR_AF,ALMS1
447855,2:73727529:A>G,NM_015120.4:c.9536+8904A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.991,\N,\N,ALMS1
447856,2:73727536:A>T,NM_015120.4:c.9536+8911A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.941,\N,\N,ALMS1
447857,2:73727546:G>A,NM_015120.4:c.9536+8921G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.266,\N,\N,ALMS1
447858,2:73727553:G>A,NM_015120.4:c.9536+8928G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.355,0.0014,1KG_AMR_AF,ALMS1
447859,2:73727580:C>T,NM_015120.4:c.9536+8955C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.192,\N,\N,ALMS1
447860,2:73727633:C>CT,NM_015120.4:c.9536+9011dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447861,2:73727635:T>G,NM_015120.4:c.9536+9010T>G,\N,\N,10/22,Benign,\N,intron_variant,9.166,0.0242,1KG_AFR_AF,ALMS1
447862,2:73727650:C>T,NM_015120.4:c.9536+9025C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,12.58,0.001,1KG_SAS_AF,ALMS1
447863,2:73727657:T>TA,NM_015120.4:c.9536+9033dup,\N,\N,10/22,Unknown significance,\N,intron_variant,12.83,0.003,1KG_AFR_AF,ALMS1
447864,2:73727659:C>G,NM_015120.4:c.9536+9034C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,13.27,\N,\N,ALMS1
447865,2:73727669:C>G,NM_015120.4:c.9536+9044C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.17,0.0023,1KG_AFR_AF,ALMS1
447866,2:73727683:G>A,NM_015120.4:c.9536+9058G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,14.16,\N,\N,ALMS1
447867,2:73727691:G>C,NM_015120.4:c.9536+9066G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,11.43,\N,\N,ALMS1
447868,2:73727763:T>G,NM_015120.4:c.9536+9138T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.02,0.001,1KG_EUR_AF,ALMS1
447869,2:73727797:C>G,NM_015120.4:c.9536+9172C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.014,0.0015,1KG_AFR_AF,ALMS1
447870,2:73727797:C>T,NM_015120.4:c.9536+9172C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.031,\N,\N,ALMS1
447871,2:73727827:T>C,NM_015120.4:c.9536+9202T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.76,0.003,1KG_EAS_AF,ALMS1
447872,2:73727853:G>GA,NM_015120.4:c.9536+9229dup,\N,\N,10/22,Unknown significance,\N,intron_variant,10.09,\N,\N,ALMS1
447873,2:73727855:G>A,NM_015120.4:c.9536+9230G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.8,\N,\N,ALMS1
447874,2:73727856:T>A,NM_015120.4:c.9536+9231T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,13.84,\N,\N,ALMS1
447875,2:73727866:G>A,NM_015120.4:c.9536+9241G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,13.08,0.001,1KG_EAS_AF,ALMS1
447876,2:73727868:A>G,NM_015120.4:c.9536+9243A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,12.84,\N,\N,ALMS1
447877,2:73727873:CAG>C,NM_015120.4:c.9536+9251_9536+9252del,\N,\N,10/22,Benign,\N,intron_variant,14.06,0.0711,1KG_AFR_AF,ALMS1
447878,2:73727875:GA>G,NM_015120.4:c.9536+9251del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447879,2:73727876:AG>A,NM_015120.4:c.9536+9253del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447880,2:73727985:C>T,NM_015120.4:c.9536+9360C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,11.27,0.001,1KG_EAS_AF,ALMS1
447881,2:73727995:A>G,NM_015120.4:c.9536+9370A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.123,0.0008,1KG_AFR_AF,ALMS1
447882,2:73728010:C>A,NM_015120.4:c.9536+9385C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,10.37,\N,\N,ALMS1
447883,2:73728033:C>T,NM_015120.4:c.9536+9408C>T,\N,\N,10/22,Benign,\N,intron_variant,4.064,0.0734,1KG_AFR_AF,ALMS1
447884,2:73728053:C>G,NM_015120.4:c.9536+9428C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.996,0.001,1KG_SAS_AF,ALMS1
447885,2:73728076:A>G,NM_015120.4:c.9536+9451A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.07,\N,\N,ALMS1
447886,2:73728092:A>G,NM_015120.4:c.9536+9467A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,12.59,0.0008,1KG_AFR_AF,ALMS1
447887,2:73728125:G>A,NM_015120.4:c.9536+9500G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.716,\N,\N,ALMS1
447888,2:73728153:C>T,NM_015120.4:c.9536+9528C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.769,\N,\N,ALMS1
447889,2:73728163:G>A,NM_015120.4:c.9536+9538G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.998,0.001,1KG_EAS_AF,ALMS1
447890,2:73728217:A>G,NM_015120.4:c.9536+9592A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.4,\N,\N,ALMS1
447891,2:73728225:T>A,NM_015120.4:c.9536+9600T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,9.739,\N,\N,ALMS1
447892,2:73728249:C>T,NM_015120.4:c.9536+9624C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.545,0.0008,1KG_AFR_AF,ALMS1
447893,2:73728252:A>C,NM_015120.4:c.9536+9627A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.687,\N,\N,ALMS1
447894,2:73728258:A>G,NM_015120.4:c.9536+9633A>G,\N,\N,10/22,Benign,\N,intron_variant,7.253,0.0215,1KG_SAS_AF,ALMS1
447895,2:73728294:C>T,NM_015120.4:c.9536+9669C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.583,0.001,1KG_EAS_AF,ALMS1
447896,2:73728325:T>G,NM_015120.4:c.9536+9700T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.767,0.001,1KG_SAS_AF,ALMS1
447897,2:73728447:A>G,NM_015120.4:c.9536+9822A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.17,0.001,1KG_EAS_AF,ALMS1
447898,2:73728484:T>C,NM_015120.4:c.9536+9859T>C,\N,\N,10/22,Benign,\N,intron_variant,3.049,0.0091,1KG_AFR_AF,ALMS1
447899,2:73728498:TTAAGAAATG>T,NM_015120.4:c.9536+9875_9536+9883del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447900,2:73728507:G>A,NM_015120.4:c.9536+9882G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,9.313,\N,\N,ALMS1
447901,2:73728543:A>G,NM_015120.4:c.9536+9918A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.337,0.001,1KG_EUR_AF,ALMS1
447902,2:73728551:G>C,NM_015120.4:c.9536+9926G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.288,\N,\N,ALMS1
447903,2:73728609:C>A,NM_015120.4:c.9536+9984C>A,\N,\N,10/22,Benign,\N,intron_variant,0.45,0.8979,1KG_AFR_AF,ALMS1
447904,2:73728620:A>G,NM_015120.4:c.9536+9995A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.435,\N,\N,ALMS1
447905,2:73728630:G>A,NM_015120.4:c.9536+10005G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.868,\N,\N,ALMS1
447906,2:73728639:C>T,NM_015120.4:c.9536+10014C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.736,\N,\N,ALMS1
447907,2:73728692:TTA>T,NM_015120.4:c.9536+10069_9536+10070del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447908,2:73728737:A>T,NM_015120.4:c.9536+10112A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.206,\N,\N,ALMS1
447909,2:73728743:A>T,NM_015120.4:c.9536+10118A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.961,\N,\N,ALMS1
447910,2:73728785:A>G,NM_015120.4:c.9536+10160A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,15.34,0.0008,1KG_AFR_AF,ALMS1
447911,2:73728801:C>A,NM_015120.4:c.9536+10176C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,15.05,\N,\N,ALMS1
447912,2:73728824:T>C,NM_015120.4:c.9536+10199T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,11.77,0.0008,1KG_AFR_AF,ALMS1
447913,2:73728827:A>C,NM_015120.4:c.9536+10202A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,11.35,\N,\N,ALMS1
447914,2:73728836:C>T,NM_015120.4:c.9536+10211C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,13.04,\N,\N,ALMS1
447915,2:73728861:C>G,NM_015120.4:c.9536+10236C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.11,\N,\N,ALMS1
447916,2:73728870:T>C,NM_015120.4:c.9536+10245T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.8,0.0014,1KG_AMR_AF,ALMS1
447917,2:73728919:A>C,NM_015120.4:c.9536+10294A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.28,\N,\N,ALMS1
447918,2:73728919:A>G,NM_015120.4:c.9536+10294A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.32,\N,\N,ALMS1
447919,2:73728949:T>G,NM_015120.4:c.9536+10324T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.442,\N,\N,ALMS1
447920,2:73728976:A>G,NM_015120.4:c.9536+10351A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.18,0.001,1KG_SAS_AF,ALMS1
447921,2:73728991:A>G,NM_015120.4:c.9536+10366A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.63,0.0015,1KG_AFR_AF,ALMS1
447922,2:73729012:A>G,NM_015120.4:c.9536+10387A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.26,0.001,1KG_EAS_AF,ALMS1
447923,2:73729016:A>G,NM_015120.4:c.9536+10391A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,13.35,\N,\N,ALMS1
447924,2:73729070:C>G,NM_015120.4:c.9536+10445C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.394,\N,\N,ALMS1
447925,2:73729092:G>A,NM_015120.4:c.9536+10467G>A,\N,\N,10/22,Benign,\N,intron_variant,1.308,0.005,1KG_EAS_AF,ALMS1
447926,2:73729131:G>A,NM_015120.4:c.9536+10506G>A,\N,\N,10/22,Benign,\N,intron_variant,8.23,0.0098,1KG_AFR_AF,ALMS1
447927,2:73729141:T>C,NM_015120.4:c.9536+10516T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,6.428,\N,\N,ALMS1
447928,2:73729145:A>G,NM_015120.4:c.9536+10520A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.91,\N,\N,ALMS1
447929,2:73729167:T>C,NM_015120.4:c.9536+10542T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.759,0.001,1KG_SAS_AF,ALMS1
447930,2:73729221:T>G,NM_015120.4:c.9536+10596T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.562,\N,\N,ALMS1
447931,2:73729231:C>T,NM_015120.4:c.9536+10606C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.472,\N,\N,ALMS1
447932,2:73729308:A>AC,NM_015120.4:c.9536+10683_9536+10684insC,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447933,2:73729310:T>C,NM_015120.4:c.9536+10685T>C,\N,\N,10/22,Benign,\N,intron_variant,7.288,0.0129,1KG_EAS_AF,ALMS1
447934,2:73729325:A>G,NM_015120.4:c.9536+10700A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.39,\N,\N,ALMS1
447935,2:73729357:A>G,NM_015120.4:c.9536+10732A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,12.63,\N,\N,ALMS1
447936,2:73729371:T>A,NM_015120.4:c.9536+10746T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,17.2,0.001,1KG_EAS_AF,ALMS1
447937,2:73729416:T>C,NM_015120.4:c.9536+10791T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.964,0.003,1KG_AFR_AF,ALMS1
447938,2:73729432:G>T,NM_015120.4:c.9536+10807G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.545,0.002,1KG_SAS_AF,ALMS1
447939,2:73729459:C>T,NM_015120.4:c.9536+10834C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.069,\N,\N,ALMS1
447940,2:73729463:C>A,NM_015120.4:c.9536+10838C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.454,\N,\N,ALMS1
447941,2:73729501:T>G,NM_015120.4:c.9536+10876T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.626,0.0014,1KG_AMR_AF,ALMS1
447942,2:73729517:A>G,NM_015120.4:c.9536+10892A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.444,\N,\N,ALMS1
447943,2:73729529:T>C,NM_015120.4:c.9536+10904T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.84,0.001,1KG_SAS_AF,ALMS1
447944,2:73729546:G>A,NM_015120.4:c.9536+10921G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.35,0.001,1KG_EAS_AF,ALMS1
447945,2:73729585:G>C,NM_015120.4:c.9536+10960G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.6,\N,\N,ALMS1
447946,2:73729605:C>T,NM_015120.4:c.9536+10980C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.049,0.0008,1KG_AFR_AF,ALMS1
447947,2:73729618:C>T,NM_015120.4:c.9536+10993C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.533,0.001,1KG_SAS_AF,ALMS1
447948,2:73729642:T>C,NM_015120.4:c.9536+11017T>C,\N,\N,10/22,Benign,\N,intron_variant,1.825,0.0547,1KG_EUR_AF,ALMS1
447949,2:73729659:T>C,NM_015120.4:c.9536+11034T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.675,0.001,1KG_EAS_AF,ALMS1
447950,2:73729737:G>A,NM_015120.4:c.9536+11112G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.084,0.0014,1KG_AMR_AF,ALMS1
447951,2:73729753:A>G,NM_015120.4:c.9536+11128A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.983,0.0023,1KG_AFR_AF,ALMS1
447952,2:73729755:G>A,NM_015120.4:c.9536+11130G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.24,0.0014,1KG_AMR_AF,ALMS1
447953,2:73729769:A>G,NM_015120.4:c.9536+11144A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.815,0.001,1KG_EAS_AF,ALMS1
447954,2:73729773:A>G,NM_015120.4:c.9536+11148A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.426,\N,\N,ALMS1
447955,2:73729783:A>G,NM_015120.4:c.9536+11158A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.459,0.001,1KG_SAS_AF,ALMS1
447956,2:73729811:T>C,NM_015120.4:c.9536+11186T>C,\N,\N,10/22,Benign,\N,intron_variant,12.9,0.0174,1KG_SAS_AF,ALMS1
447957,2:73729826:G>A,NM_015120.4:c.9536+11201G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,14.87,0.001,1KG_SAS_AF,ALMS1
447958,2:73729830:A>G,NM_015120.4:c.9536+11205A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,15.38,0.001,1KG_EUR_AF,ALMS1
447959,2:73729834:G>C,NM_015120.4:c.9536+11209G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,12.98,0.0038,1KG_AFR_AF,ALMS1
447960,2:73729853:A>G,NM_015120.4:c.9536+11228A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.238,0.001,1KG_EAS_AF,ALMS1
447961,2:73729856:G>A,NM_015120.4:c.9536+11231G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.758,0.001,1KG_SAS_AF,ALMS1
447962,2:73729868:G>T,NM_015120.4:c.9536+11243G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.337,\N,\N,ALMS1
447963,2:73729875:T>TA,NM_015120.4:c.9536+11251dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447964,2:73729878:C>G,NM_015120.4:c.9536+11253C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.248,\N,\N,ALMS1
447965,2:73729913:T>A,NM_015120.4:c.9536+11288T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.49,0.0014,1KG_AMR_AF,ALMS1
447966,2:73729923:T>C,NM_015120.4:c.9536+11298T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.198,0.001,1KG_EUR_AF,ALMS1
447967,2:73729924:G>GTT,NM_015120.4:c.9536+11301_9536+11302dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447968,2:73729975:G>A,NM_015120.4:c.9536+11350G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.345,\N,\N,ALMS1
447969,2:73729978:G>A,NM_015120.4:c.9536+11353G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.603,0.001,1KG_SAS_AF,ALMS1
447970,2:73730021:G>A,NM_015120.4:c.9536+11396G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.837,0.003,1KG_EAS_AF,ALMS1
447971,2:73730036:CCTT>C,NM_015120.4:c.9536+11412_9536+11414del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447972,2:73730049:G>T,NM_015120.4:c.9536+11424G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.876,0.0014,1KG_AMR_AF,ALMS1
447973,2:73730055:C>G,NM_015120.4:c.9536+11430C>G,\N,\N,10/22,Benign,\N,intron_variant,0.254,0.0058,1KG_AMR_AF,ALMS1
447974,2:73730074:A>G,NM_015120.4:c.9536+11449A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.165,0.0008,1KG_AFR_AF,ALMS1
447975,2:73730083:C>A,NM_015120.4:c.9536+11458C>A,\N,\N,10/22,Benign,\N,intron_variant,0.642,0.044,1KG_SAS_AF,ALMS1
447976,2:73730098:C>T,NM_015120.4:c.9536+11473C>T,\N,\N,10/22,Benign,\N,intron_variant,5.7,0.0658,1KG_AFR_AF,ALMS1
447977,2:73730100:T>C,NM_015120.4:c.9536+11475T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.63,\N,\N,ALMS1
447978,2:73730119:C>G,NM_015120.4:c.9536+11494C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.268,0.0015,1KG_AFR_AF,ALMS1
447979,2:73730127:G>T,NM_015120.4:c.9536+11502G>T,\N,\N,10/22,Benign,\N,intron_variant,1.261,0.0711,1KG_AFR_AF,ALMS1
447980,2:73730156:A>G,NM_015120.4:c.9536+11531A>G,\N,\N,10/22,Benign,\N,intron_variant,13.27,0.0711,1KG_AFR_AF,ALMS1
447981,2:73730174:A>G,NM_015120.4:c.9536+11549A>G,\N,\N,10/22,Benign,\N,intron_variant,15.33,0.6067,1KG_AFR_AF,ALMS1
447982,2:73730218:T>A,NM_015120.4:c.9536+11593T>A,\N,\N,10/22,Benign,\N,intron_variant,3.095,0.0484,1KG_AFR_AF,ALMS1
447983,2:73730221:T>A,NM_015120.4:c.9536+11596T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.451,0.0015,1KG_AFR_AF,ALMS1
447984,2:73730229:TA>T,NM_015120.4:c.9536+11605del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
447985,2:73730235:T>A,NM_015120.4:c.9536+11610T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.682,0.0029,1KG_AMR_AF,ALMS1
447986,2:73730260:A>T,NM_015120.4:c.9536+11635A>T,\N,\N,10/22,Benign,\N,intron_variant,0.564,0.2034,1KG_EAS_AF,ALMS1
447987,2:73730267:C>T,NM_015120.4:c.9536+11642C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.933,\N,\N,ALMS1
447988,2:73730288:A>G,NM_015120.4:c.9536+11663A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.669,\N,\N,ALMS1
447989,2:73730375:C>G,NM_015120.4:c.9536+11750C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.535,0.0015,1KG_AFR_AF,ALMS1
447990,2:73730384:C>T,NM_015120.4:c.9536+11759C>T,\N,\N,10/22,Benign,\N,intron_variant,1.344,0.0711,1KG_AFR_AF,ALMS1
447991,2:73730401:G>T,NM_015120.4:c.9536+11776G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.32,0.0008,1KG_AFR_AF,ALMS1
447992,2:73730415:C>T,NM_015120.4:c.9536+11790C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.263,0.001,1KG_SAS_AF,ALMS1
447993,2:73730446:A>G,NM_015120.4:c.9536+11821A>G,\N,\N,10/22,Benign,\N,intron_variant,1.183,0.1326,1KG_AMR_AF,ALMS1
447994,2:73730453:C>T,NM_015120.4:c.9536+11828C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.29,0.0008,1KG_AFR_AF,ALMS1
447995,2:73730480:G>A,NM_015120.4:c.9536+11855G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.718,0.001,1KG_SAS_AF,ALMS1
447996,2:73730485:T>C,NM_015120.4:c.9536+11860T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.436,0.002,1KG_SAS_AF,ALMS1
447997,2:73730487:G>C,NM_015120.4:c.9536+11862G>C,\N,\N,10/22,Benign,\N,intron_variant,0.095,0.044,1KG_SAS_AF,ALMS1
447998,2:73730496:A>G,NM_015120.4:c.9536+11871A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.826,0.002,1KG_EAS_AF,ALMS1
447999,2:73730512:G>C,NM_015120.4:c.9536+11887G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.095,0.001,1KG_EAS_AF,ALMS1
448000,2:73730523:A>G,NM_015120.4:c.9536+11898A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.945,0.0014,1KG_AMR_AF,ALMS1
448001,2:73730527:T>C,NM_015120.4:c.9536+11902T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.551,0.001,1KG_EUR_AF,ALMS1
448002,2:73730530:C>T,NM_015120.4:c.9536+11905C>T,\N,\N,10/22,Benign,\N,intron_variant,0.93,0.1715,1KG_AMR_AF,ALMS1
448003,2:73730531:C>T,NM_015120.4:c.9536+11906C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.015,0.0031,1KG_SAS_AF,ALMS1
448004,2:73730535:T>A,NM_015120.4:c.9536+11910T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.89,0.004,1KG_EUR_AF,ALMS1
448005,2:73730588:G>A,NM_015120.4:c.9536+11963G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.55,0.001,1KG_SAS_AF,ALMS1
448006,2:73730623:C>T,NM_015120.4:c.9536+11998C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.878,0.0014,1KG_AMR_AF,ALMS1
448007,2:73730624:G>A,NM_015120.4:c.9536+11999G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.647,0.001,1KG_EUR_AF,ALMS1
448008,2:73730640:G>T,NM_015120.4:c.9536+12015G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.211,0.001,1KG_EUR_AF,ALMS1
448009,2:73730654:T>C,NM_015120.4:c.9536+12029T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.393,\N,\N,ALMS1
448010,2:73730665:G>C,NM_015120.4:c.9536+12040G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.109,0.001,1KG_EAS_AF,ALMS1
448011,2:73730671:T>A,NM_015120.4:c.9536+12046T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.319,\N,\N,ALMS1
448012,2:73730672:G>C,NM_015120.4:c.9536+12047G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.124,0.001,1KG_SAS_AF,ALMS1
448013,2:73730678:A>G,NM_015120.4:c.9536+12053A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.025,0.0045,1KG_AFR_AF,ALMS1
448014,2:73730688:G>A,NM_015120.4:c.9536+12063G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.653,0.0045,1KG_AFR_AF,ALMS1
448015,2:73730690:G>A,NM_015120.4:c.9536+12065G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.746,0.0015,1KG_AFR_AF,ALMS1
448016,2:73730742:G>A,NM_015120.4:c.9536+12117G>A,\N,\N,10/22,Benign,\N,intron_variant,0.791,0.0139,1KG_EAS_AF,ALMS1
448017,2:73730773:T>C,NM_015120.4:c.9536+12148T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.595,0.0014,1KG_AMR_AF,ALMS1
448018,2:73730779:T>C,NM_015120.4:c.9536+12154T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.599,0.0008,1KG_AFR_AF,ALMS1
448019,2:73730796:G>A,NM_015120.4:c.9536+12171G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.537,\N,\N,ALMS1
448020,2:73730829:T>A,NM_015120.4:c.9536+12204T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.217,\N,\N,ALMS1
448021,2:73730830:A>C,NM_015120.4:c.9536+12205A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.459,0.0014,1KG_AMR_AF,ALMS1
448022,2:73730832:A>G,NM_015120.4:c.9536+12207A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.37,0.0008,1KG_AFR_AF,ALMS1
448023,2:73730909:T>TGGGGGGGG,NM_015120.4:c.9536+12285_9536+12286insGGGGGGGG,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448024,2:73730943:G>A,NM_015120.4:c.9536+12318G>A,\N,\N,10/22,Benign,\N,intron_variant,14.44,0.0711,1KG_AFR_AF,ALMS1
448025,2:73730948:T>C,NM_015120.4:c.9536+12323T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.32,\N,\N,ALMS1
448026,2:73730987:A>G,NM_015120.4:c.9536+12362A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,13.11,\N,\N,ALMS1
448027,2:73731083:A>G,NM_015120.4:c.9536+12458A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.832,\N,\N,ALMS1
448028,2:73731111:G>A,NM_015120.4:c.9536+12486G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.312,0.001,1KG_EUR_AF,ALMS1
448029,2:73731125:T>C,NM_015120.4:c.9536+12500T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.68,\N,\N,ALMS1
448030,2:73731156:A>G,NM_015120.4:c.9536+12531A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.175,0.0008,1KG_AFR_AF,ALMS1
448031,2:73731157:A>G,NM_015120.4:c.9536+12532A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.061,0.001,1KG_SAS_AF,ALMS1
448032,2:73731200:A>G,NM_015120.4:c.9536+12575A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.102,\N,\N,ALMS1
448033,2:73731257:G>T,NM_015120.4:c.9536+12632G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.21,\N,\N,ALMS1
448034,2:73731275:C>T,NM_015120.4:c.9536+12650C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.75,0.001,1KG_EUR_AF,ALMS1
448035,2:73731282:A>G,NM_015120.4:c.9536+12657A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.34,\N,\N,ALMS1
448036,2:73731283:A>G,NM_015120.4:c.9536+12658A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.752,0.002,1KG_SAS_AF,ALMS1
448037,2:73731287:C>G,NM_015120.4:c.9536+12662C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.696,0.0023,1KG_AFR_AF,ALMS1
448038,2:73731356:C>G,NM_015120.4:c.9536+12731C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.651,\N,\N,ALMS1
448039,2:73731360:C>T,NM_015120.4:c.9536+12735C>T,\N,\N,10/22,Benign,\N,intron_variant,4.784,0.0257,1KG_AFR_AF,ALMS1
448040,2:73731412:T>C,NM_015120.4:c.9536+12787T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.034,0.002,1KG_EAS_AF,ALMS1
448041,2:73731415:G>T,NM_015120.4:c.9536+12790G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.121,\N,\N,ALMS1
448042,2:73731417:G>A,NM_015120.4:c.9536+12792G>A,\N,\N,10/22,Benign,\N,intron_variant,2.379,0.0734,1KG_AFR_AF,ALMS1
448043,2:73731446:A>G,NM_015120.4:c.9536+12821A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.597,\N,\N,ALMS1
448044,2:73731459:C>T,NM_015120.4:c.9536+12834C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.726,0.0015,1KG_AFR_AF,ALMS1
448045,2:73731460:G>A,NM_015120.4:c.9536+12835G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.906,\N,\N,ALMS1
448046,2:73731465:C>G,NM_015120.4:c.9536+12840C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.803,\N,\N,ALMS1
448047,2:73731471:C>G,NM_015120.4:c.9536+12846C>G,\N,\N,10/22,Benign,\N,intron_variant,3.104,0.1808,1KG_AFR_AF,ALMS1
448048,2:73731478:C>T,NM_015120.4:c.9536+12853C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.032,0.0008,1KG_AFR_AF,ALMS1
448049,2:73731484:T>G,NM_015120.4:c.9536+12859T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.954,0.001,1KG_EUR_AF,ALMS1
448050,2:73731515:C>A,NM_015120.4:c.9536+12890C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.411,\N,\N,ALMS1
448051,2:73731546:C>A,NM_015120.4:c.9536+12921C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.199,0.001,1KG_SAS_AF,ALMS1
448052,2:73731624:T>G,NM_015120.4:c.9536+12999T>G,\N,\N,10/22,Benign,\N,intron_variant,8.288,0.0575,1KG_AFR_AF,ALMS1
448053,2:73731632:A>G,NM_015120.4:c.9536+13007A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.365,0.001,1KG_EAS_AF,ALMS1
448054,2:73731654:A>T,NM_015120.4:c.9536+13029A>T,\N,\N,10/22,Benign,\N,intron_variant,1.316,0.1326,1KG_AMR_AF,ALMS1
448055,2:73731662:A>T,NM_015120.4:c.9536+13037A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.89,\N,\N,ALMS1
448056,2:73731683:C>G,NM_015120.4:c.9536+13058C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.256,0.0014,1KG_AMR_AF,ALMS1
448057,2:73731697:T>C,NM_015120.4:c.9536+13072T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.208,\N,\N,ALMS1
448058,2:73731725:G>A,NM_015120.4:c.9536+13100G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.434,0.0008,1KG_AFR_AF,ALMS1
448059,2:73731748:G>A,NM_015120.4:c.9536+13123G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.611,\N,\N,ALMS1
448060,2:73731779:A>G,NM_015120.4:c.9536+13154A>G,\N,\N,10/22,Benign,\N,intron_variant,3.997,0.0061,1KG_AFR_AF,ALMS1
448061,2:73731792:A>G,NM_015120.4:c.9536+13167A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.533,\N,\N,ALMS1
448062,2:73731863:C>CT,NM_015120.4:c.9536+13248dup,\N,\N,10/22,Benign,\N,intron_variant,5.284,0.1399,1KG_AFR_AF,ALMS1
448063,2:73731874:A>T,NM_015120.4:c.9536+13249A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.027,\N,\N,ALMS1
448064,2:73731877:C>CT,NM_015120.4:c.9536+13255dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448065,2:73731917:T>C,NM_015120.4:c.9536+13292T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.545,0.001,1KG_EUR_AF,ALMS1
448066,2:73731937:C>T,NM_015120.4:c.9536+13312C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.013,0.0008,1KG_AFR_AF,ALMS1
448067,2:73731962:C>G,NM_015120.4:c.9536+13337C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.759,\N,\N,ALMS1
448068,2:73731962:C>T,NM_015120.4:c.9536+13337C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.536,0.004,1KG_EAS_AF,ALMS1
448069,2:73731965:G>A,NM_015120.4:c.9536+13340G>A,\N,\N,10/22,Benign,\N,intron_variant,0.029,0.0982,1KG_EAS_AF,ALMS1
448070,2:73731967:C>T,NM_015120.4:c.9536+13342C>T,\N,\N,10/22,Benign,\N,intron_variant,3.21,0.0711,1KG_AFR_AF,ALMS1
448071,2:73731978:C>T,NM_015120.4:c.9536+13353C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.24,\N,\N,ALMS1
448072,2:73731981:A>G,NM_015120.4:c.9536+13356A>G,\N,\N,10/22,Benign,\N,intron_variant,2.236,0.0711,1KG_AFR_AF,ALMS1
448073,2:73731991:A>G,NM_015120.4:c.9536+13366A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.345,\N,\N,ALMS1
448074,2:73732000:C>A,NM_015120.4:c.9536+13375C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.573,0.0008,1KG_AFR_AF,ALMS1
448075,2:73732007:T>C,NM_015120.4:c.9536+13382T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.896,\N,\N,ALMS1
448076,2:73732028:C>T,NM_015120.4:c.9536+13403C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.333,\N,\N,ALMS1
448077,2:73732096:G>C,NM_015120.4:c.9536+13471G>C,\N,\N,10/22,Benign,\N,intron_variant,0.742,0.8555,1KG_AFR_AF,ALMS1
448078,2:73732099:T>C,NM_015120.4:c.9536+13474T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.107,\N,\N,ALMS1
448079,2:73732113:T>G,NM_015120.4:c.9536+13488T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.564,\N,\N,ALMS1
448080,2:73732125:T>C,NM_015120.4:c.9536+13500T>C,\N,\N,10/22,Benign,\N,intron_variant,4.489,0.0061,1KG_AFR_AF,ALMS1
448081,2:73732154:T>C,NM_015120.4:c.9536+13529T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.988,\N,\N,ALMS1
448082,2:73732210:A>G,NM_015120.4:c.9536+13585A>G,\N,\N,10/22,Benign,\N,intron_variant,5.841,0.005,1KG_EAS_AF,ALMS1
448083,2:73732234:T>C,NM_015120.4:c.9536+13609T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,6.494,0.0045,1KG_AFR_AF,ALMS1
448084,2:73732251:T>A,NM_015120.4:c.9536+13626T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,8.056,\N,\N,ALMS1
448085,2:73732312:C>A,NM_015120.4:c.9536+13687C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.293,0.002,1KG_SAS_AF,ALMS1
448086,2:73732406:T>C,NM_015120.4:c.9536+13781T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.342,\N,\N,ALMS1
448087,2:73732418:C>A,NM_015120.4:c.9536+13793C>A,\N,\N,10/22,Benign,\N,intron_variant,0.451,0.0272,1KG_AFR_AF,ALMS1
448088,2:73732420:C>A,NM_015120.4:c.9536+13795C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.075,\N,\N,ALMS1
448089,2:73732423:C>T,NM_015120.4:c.9536+13798C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.056,0.0038,1KG_AFR_AF,ALMS1
448090,2:73732424:A>G,NM_015120.4:c.9536+13799A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.073,\N,\N,ALMS1
448091,2:73732427:G>C,NM_015120.4:c.9536+13802G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.442,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
448092,2:73732433:C>T,NM_015120.4:c.9536+13808C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.605,\N,\N,ALMS1
448093,2:73732447:T>C,NM_015120.4:c.9536+13822T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.609,0.0038,1KG_AFR_AF,ALMS1
448094,2:73732449:A>G,NM_015120.4:c.9536+13824A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.476,0.0038,1KG_AFR_AF,ALMS1
448095,2:73732455:A>C,NM_015120.4:c.9536+13830A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.001,0.002,1KG_EAS_AF,ALMS1
448096,2:73732482:T>C,NM_015120.4:c.9536+13857T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.135,0.0045,1KG_AFR_AF,ALMS1
448097,2:73732497:C>T,NM_015120.4:c.9536+13872C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.288,\N,\N,ALMS1
448098,2:73732499:C>T,NM_015120.4:c.9536+13874C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.477,0.0008,1KG_AFR_AF,ALMS1
448099,2:73732597:C>G,NM_015120.4:c.9536+13972C>G,\N,\N,10/22,Benign,\N,intron_variant,13.51,0.0149,1KG_EAS_AF,ALMS1
448100,2:73732619:A>G,NM_015120.4:c.9536+13994A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,15.01,0.001,1KG_EAS_AF,ALMS1
448101,2:73732632:G>A,NM_015120.4:c.9536+14007G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,14.48,\N,\N,ALMS1
448102,2:73732673:C>T,NM_015120.4:c.9536+14048C>T,\N,\N,10/22,Benign,\N,intron_variant,1.594,0.0234,1KG_AFR_AF,ALMS1
448103,2:73732674:G>A,NM_015120.4:c.9536+14049G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.16,\N,\N,ALMS1
448104,2:73732691:G>T,NM_015120.4:c.9536+14066G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.675,\N,\N,ALMS1
448105,2:73732694:G>C,NM_015120.4:c.9536+14069G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.33,0.001,1KG_EAS_AF,ALMS1
448106,2:73732721:A>C,NM_015120.4:c.9536+14096A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,7.631,0.001,1KG_SAS_AF,ALMS1
448107,2:73732740:T>C,NM_015120.4:c.9536+14115T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,10.05,0.001,1KG_EAS_AF,ALMS1
448108,2:73732746:A>G,NM_015120.4:c.9536+14121A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.59,0.0008,1KG_AFR_AF,ALMS1
448109,2:73732771:C>A,NM_015120.4:c.9537-14131C>A,\N,\N,10/22,Benign,\N,intron_variant,9.505,0.0051,1KG_SAS_AF,ALMS1
448110,2:73732784:T>A,NM_015120.4:c.9537-14118T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.31,0.003,1KG_EUR_AF,ALMS1
448111,2:73732785:G>A,NM_015120.4:c.9537-14117G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,9.477,0.003,1KG_EUR_AF,ALMS1
448112,2:73732786:A>AACT,NM_015120.4:c.9537-14116_9537-14115insACT,\N,\N,10/22,Unknown significance,\N,intron_variant,6.566,0.003,1KG_EUR_AF,ALMS1
448113,2:73732808:T>C,NM_015120.4:c.9537-14094T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.879,0.001,1KG_EAS_AF,ALMS1
448114,2:73732836:T>C,NM_015120.4:c.9537-14066T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.244,0.003,1KG_EAS_AF,ALMS1
448115,2:73732854:A>G,NM_015120.4:c.9537-14048A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.686,0.0015,1KG_AFR_AF,ALMS1
448116,2:73732875:TTACTC>T,NM_015120.4:c.9537-14024_9537-14020del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448117,2:73732901:G>A,NM_015120.4:c.9537-14001G>A,\N,\N,10/22,Benign,\N,intron_variant,7.184,0.0089,1KG_EAS_AF,ALMS1
448118,2:73732903:G>T,NM_015120.4:c.9537-13999G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.041,\N,\N,ALMS1
448119,2:73732926:G>C,NM_015120.4:c.9537-13976G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.127,0.001,1KG_EUR_AF,ALMS1
448120,2:73732930:T>G,NM_015120.4:c.9537-13972T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.757,\N,\N,ALMS1
448121,2:73733025:T>G,NM_015120.4:c.9537-13877T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.87,\N,\N,ALMS1
448122,2:73733045:G>A,NM_015120.4:c.9537-13857G>A,\N,\N,10/22,Benign,\N,intron_variant,3.83,0.0703,1KG_AFR_AF,ALMS1
448123,2:73733071:A>G,NM_015120.4:c.9537-13831A>G,\N,\N,10/22,Benign,\N,intron_variant,4.362,0.6029,1KG_AFR_AF,ALMS1
448124,2:73733077:T>C,NM_015120.4:c.9537-13825T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.366,0.001,1KG_EAS_AF,ALMS1
448125,2:73733078:C>T,NM_015120.4:c.9537-13824C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.061,0.001,1KG_SAS_AF,ALMS1
448126,2:73733093:G>A,NM_015120.4:c.9537-13809G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.24,\N,\N,ALMS1
448127,2:73733106:G>A,NM_015120.4:c.9537-13796G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.361,\N,\N,ALMS1
448128,2:73733176:ATCCTT>A,NM_015120.4:c.9537-13723_9537-13719del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448129,2:73733181:T>C,NM_015120.4:c.9537-13721T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.544,0.001,1KG_SAS_AF,ALMS1
448130,2:73733191:C>CTTGT,NM_015120.4:c.9537-13709_9537-13708insGTTT,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448131,2:73733226:G>A,NM_015120.4:c.9537-13676G>A,\N,\N,10/22,Benign,\N,intron_variant,8.33,0.0744,1KG_EAS_AF,ALMS1
448132,2:73733232:T>A,NM_015120.4:c.9537-13670T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,8.53,\N,\N,ALMS1
448133,2:73733232:T>C,NM_015120.4:c.9537-13670T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,7.099,\N,\N,ALMS1
448134,2:73733245:G>A,NM_015120.4:c.9537-13657G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.173,\N,\N,ALMS1
448135,2:73733265:T>C,NM_015120.4:c.9537-13637T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,5.889,\N,\N,ALMS1
448136,2:73733275:T>C,NM_015120.4:c.9537-13627T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.638,0.004,1KG_EAS_AF,ALMS1
448137,2:73733295:C>T,NM_015120.4:c.9537-13607C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.012,\N,\N,ALMS1
448138,2:73733305:T>G,NM_015120.4:c.9537-13597T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.893,\N,\N,ALMS1
448139,2:73733308:G>C,NM_015120.4:c.9537-13594G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.486,\N,\N,ALMS1
448140,2:73733313:C>T,NM_015120.4:c.9537-13589C>T,\N,\N,10/22,Benign,\N,intron_variant,1.813,0.8578,1KG_AFR_AF,ALMS1
448141,2:73733316:A>G,NM_015120.4:c.9537-13586A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.988,0.001,1KG_EUR_AF,ALMS1
448142,2:73733327:A>G,NM_015120.4:c.9537-13575A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.719,0.002,1KG_EAS_AF,ALMS1
448143,2:73733359:G>C,NM_015120.4:c.9537-13543G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.463,\N,\N,ALMS1
448144,2:73733372:T>G,NM_015120.4:c.9537-13530T>G,\N,\N,10/22,Benign,\N,intron_variant,3.721,0.0447,1KG_AMR_AF,ALMS1
448145,2:73733383:G>T,NM_015120.4:c.9537-13519G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.046,\N,\N,ALMS1
448146,2:73733386:G>T,NM_015120.4:c.9537-13516G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.031,\N,\N,ALMS1
448147,2:73733388:G>T,NM_015120.4:c.9537-13514G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.963,\N,\N,ALMS1
448148,2:73733395:C>T,NM_015120.4:c.9537-13507C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.914,\N,\N,ALMS1
448149,2:73733396:G>A,NM_015120.4:c.9537-13506G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.086,\N,\N,ALMS1
448150,2:73733406:TTGGTTCCATA>T,NM_015120.4:c.9537-13493_9537-13484del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448151,2:73733422:T>C,NM_015120.4:c.9537-13480T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.262,0.0008,1KG_AFR_AF,ALMS1
448152,2:73733427:A>T,NM_015120.4:c.9537-13475A>T,\N,\N,10/22,Benign,\N,intron_variant,1.267,0.122,1KG_EAS_AF,ALMS1
448153,2:73733431:G>GT,NM_015120.4:c.9537-13465dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448154,2:73733446:G>T,NM_015120.4:c.9537-13456G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.197,\N,\N,ALMS1
448155,2:73733451:G>GA,NM_015120.4:c.9537-13448dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448156,2:73733501:T>TG,NM_015120.4:c.9537-13399dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448157,2:73733502:G>AA,NM_015120.4:c.9537-13400delinsAA,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448158,2:73733507:G>C,NM_015120.4:c.9537-13395G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.47,0.0008,1KG_AFR_AF,ALMS1
448159,2:73733523:A>G,NM_015120.4:c.9537-13379A>G,\N,\N,10/22,Benign,\N,intron_variant,14.42,0.0119,1KG_EUR_AF,ALMS1
448160,2:73733523:A>T,NM_015120.4:c.9537-13379A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,14.16,\N,\N,ALMS1
448161,2:73733526:T>C,NM_015120.4:c.9537-13376T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.31,\N,\N,ALMS1
448162,2:73733527:T>A,NM_015120.4:c.9537-13375T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,16.04,0.001,1KG_EUR_AF,ALMS1
448163,2:73733527:T>C,NM_015120.4:c.9537-13375T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.52,\N,\N,ALMS1
448164,2:73733535:C>T,NM_015120.4:c.9537-13367C>T,\N,\N,10/22,Benign,\N,intron_variant,12.64,0.0666,1KG_AFR_AF,ALMS1
448165,2:73733543:T>C,NM_015120.4:c.9537-13359T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,11.36,\N,\N,ALMS1
448166,2:73733550:G>T,NM_015120.4:c.9537-13352G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.885,\N,\N,ALMS1
448167,2:73733562:C>T,NM_015120.4:c.9537-13340C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,13.26,0.0023,1KG_AFR_AF,ALMS1
448168,2:73733575:C>T,NM_015120.4:c.9537-13327C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,13.8,0.001,1KG_EAS_AF,ALMS1
448169,2:73733577:T>C,NM_015120.4:c.9537-13325T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,12.78,\N,\N,ALMS1
448170,2:73733587:C>A,NM_015120.4:c.9537-13315C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.94,\N,\N,ALMS1
448171,2:73733587:C>G,NM_015120.4:c.9537-13315C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.92,\N,\N,ALMS1
448172,2:73733587:C>T,NM_015120.4:c.9537-13315C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,12.72,\N,\N,ALMS1
448173,2:73733588:C>A,NM_015120.4:c.9537-13314C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.58,\N,\N,ALMS1
448174,2:73733588:C>G,NM_015120.4:c.9537-13314C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.65,\N,\N,ALMS1
448175,2:73733596:G>A,NM_015120.4:c.9537-13306G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,10.5,\N,\N,ALMS1
448176,2:73733599:G>T,NM_015120.4:c.9537-13303G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.043,\N,\N,ALMS1
448177,2:73733603:G>T,NM_015120.4:c.9537-13299G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.08,\N,\N,ALMS1
448178,2:73733613:T>C,NM_015120.4:c.9537-13289T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.378,\N,\N,ALMS1
448179,2:73733633:C>T,NM_015120.4:c.9537-13269C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.91,\N,\N,ALMS1
448180,2:73733639:A>C,NM_015120.4:c.9537-13263A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.635,\N,\N,ALMS1
448181,2:73733642:T>C,NM_015120.4:c.9537-13260T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.283,\N,\N,ALMS1
448182,2:73733657:T>C,NM_015120.4:c.9537-13245T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.877,0.0008,1KG_AFR_AF,ALMS1
448183,2:73733661:A>G,NM_015120.4:c.9537-13241A>G,\N,\N,10/22,Benign,\N,intron_variant,2.301,0.0079,1KG_EAS_AF,ALMS1
448184,2:73733673:G>A,NM_015120.4:c.9537-13229G>A,\N,\N,10/22,Benign,\N,intron_variant,0.261,0.0547,1KG_EUR_AF,ALMS1
448185,2:73733676:A>G,NM_015120.4:c.9537-13226A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.896,\N,\N,ALMS1
448186,2:73733686:G>C,NM_015120.4:c.9537-13216G>C,\N,\N,10/22,Benign,\N,intron_variant,0.054,0.0182,1KG_AFR_AF,ALMS1
448187,2:73733688:A>G,NM_015120.4:c.9537-13214A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.161,0.0029,1KG_AMR_AF,ALMS1
448188,2:73733692:T>C,NM_015120.4:c.9537-13210T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.58,\N,\N,ALMS1
448189,2:73733697:GT>G,NM_015120.4:c.9537-13204del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448190,2:73733706:C>T,NM_015120.4:c.9537-13196C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,6.542,\N,\N,ALMS1
448191,2:73733712:A>G,NM_015120.4:c.9537-13190A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.621,0.0008,1KG_AFR_AF,ALMS1
448192,2:73733723:A>T,NM_015120.4:c.9537-13179A>T,\N,\N,10/22,Benign,\N,intron_variant,4.683,0.0159,1KG_AFR_AF,ALMS1
448193,2:73733726:A>G,NM_015120.4:c.9537-13176A>G,\N,\N,10/22,Benign,\N,intron_variant,2.913,0.0159,1KG_AFR_AF,ALMS1
448194,2:73733749:T>C,NM_015120.4:c.9537-13153T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,13.12,0.0029,1KG_AMR_AF,ALMS1
448195,2:73733777:A>G,NM_015120.4:c.9537-13125A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,14.33,0.0014,1KG_AMR_AF,ALMS1
448196,2:73733782:C>T,NM_015120.4:c.9537-13120C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,13.98,\N,\N,ALMS1
448197,2:73733815:A>T,NM_015120.4:c.9537-13087A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.336,0.0014,1KG_AMR_AF,ALMS1
448198,2:73733817:G>A,NM_015120.4:c.9537-13085G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.043,\N,\N,ALMS1
448199,2:73733837:T>G,NM_015120.4:c.9537-13065T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.421,\N,\N,ALMS1
448200,2:73733838:C>T,NM_015120.4:c.9537-13064C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.334,0.001,1KG_EUR_AF|1KG_SAS_AF,ALMS1
448201,2:73733853:C>T,NM_015120.4:c.9537-13049C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.259,\N,\N,ALMS1
448202,2:73733867:C>T,NM_015120.4:c.9537-13035C>T,\N,\N,10/22,Benign,\N,intron_variant,5.815,0.4266,1KG_AFR_AF,ALMS1
448203,2:73733875:C>T,NM_015120.4:c.9537-13027C>T,\N,\N,10/22,Benign,\N,intron_variant,4.445,0.6029,1KG_AFR_AF,ALMS1
448204,2:73733912:C>G,NM_015120.4:c.9537-12990C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.108,\N,\N,ALMS1
448205,2:73733920:C>T,NM_015120.4:c.9537-12982C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.805,0.001,1KG_SAS_AF,ALMS1
448206,2:73733936:A>G,NM_015120.4:c.9537-12966A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.531,0.0008,1KG_AFR_AF,ALMS1
448207,2:73733959:G>A,NM_015120.4:c.9537-12943G>A,\N,\N,10/22,Benign,\N,intron_variant,2.368,0.1241,1KG_AFR_AF,ALMS1
448208,2:73733976:T>C,NM_015120.4:c.9537-12926T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.016,0.003,1KG_AFR_AF,ALMS1
448209,2:73733982:C>T,NM_015120.4:c.9537-12920C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.222,0.0008,1KG_AFR_AF,ALMS1
448210,2:73733983:G>A,NM_015120.4:c.9537-12919G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.166,\N,\N,ALMS1
448211,2:73733984:G>T,NM_015120.4:c.9537-12918G>T,\N,\N,10/22,Benign,\N,intron_variant,0.588,0.1964,1KG_EAS_AF,ALMS1
448212,2:73733996:A>T,NM_015120.4:c.9537-12906A>T,\N,\N,10/22,Benign,\N,intron_variant,1.774,0.0058,1KG_AMR_AF,ALMS1
448213,2:73734023:A>G,NM_015120.4:c.9537-12879A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,10.23,0.001,1KG_EAS_AF,ALMS1
448214,2:73734031:G>T,NM_015120.4:c.9537-12871G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.12,\N,\N,ALMS1
448215,2:73734072:A>G,NM_015120.4:c.9537-12830A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.592,0.002,1KG_EUR_AF,ALMS1
448216,2:73734081:C>G,NM_015120.4:c.9537-12821C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.022,0.001,1KG_SAS_AF,ALMS1
448217,2:73734116:G>C,NM_015120.4:c.9537-12786G>C,\N,\N,10/22,Benign,\N,intron_variant,6.75,0.0499,1KG_AFR_AF,ALMS1
448218,2:73734130:A>T,NM_015120.4:c.9537-12772A>T,\N,\N,10/22,Benign,\N,intron_variant,0.174,0.5741,1KG_AFR_AF,ALMS1
448219,2:73734133:G>A,NM_015120.4:c.9537-12769G>A,\N,\N,10/22,Benign,\N,intron_variant,0.186,0.5741,1KG_AFR_AF,ALMS1
448220,2:73734186:C>T,NM_015120.4:c.9537-12716C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.978,\N,\N,ALMS1
448221,2:73734235:C>T,NM_015120.4:c.9537-12667C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.671,0.001,1KG_EAS_AF,ALMS1
448222,2:73734261:T>G,NM_015120.4:c.9537-12641T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.237,\N,\N,ALMS1
448223,2:73734340:T>C,NM_015120.4:c.9537-12562T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,7.421,\N,\N,ALMS1
448224,2:73734366:T>G,NM_015120.4:c.9537-12536T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,13.1,0.001,1KG_EAS_AF,ALMS1
448225,2:73734413:G>A,NM_015120.4:c.9537-12489G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.48,0.0008,1KG_AFR_AF,ALMS1
448226,2:73734427:G>A,NM_015120.4:c.9537-12475G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.43,\N,\N,ALMS1
448227,2:73734430:A>T,NM_015120.4:c.9537-12472A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.53,\N,\N,ALMS1
448228,2:73734539:C>A,NM_015120.4:c.9537-12363C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.47,0.002,1KG_EUR_AF,ALMS1
448229,2:73734635:T>A,NM_015120.4:c.9537-12267T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.461,0.001,1KG_SAS_AF,ALMS1
448230,2:73734684:T>C,NM_015120.4:c.9537-12218T>C,\N,\N,10/22,Benign,\N,intron_variant,1.413,0.0068,1KG_AFR_AF,ALMS1
448231,2:73734687:G>A,NM_015120.4:c.9537-12215G>A,\N,\N,10/22,Benign,\N,intron_variant,1.448,0.0068,1KG_AFR_AF,ALMS1
448232,2:73734693:G>A,NM_015120.4:c.9537-12209G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.189,0.001,1KG_EUR_AF,ALMS1
448233,2:73734694:T>C,NM_015120.4:c.9537-12208T>C,\N,\N,10/22,Benign,\N,intron_variant,1.836,0.0164,1KG_SAS_AF,ALMS1
448234,2:73734700:C>T,NM_015120.4:c.9537-12202C>T,\N,\N,10/22,Benign,\N,intron_variant,0.158,0.0068,1KG_AFR_AF,ALMS1
448235,2:73734713:T>C,NM_015120.4:c.9537-12189T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.328,0.0008,1KG_AFR_AF,ALMS1
448236,2:73734722:G>T,NM_015120.4:c.9537-12180G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.261,0.0023,1KG_AFR_AF,ALMS1
448237,2:73734738:A>G,NM_015120.4:c.9537-12164A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.816,\N,\N,ALMS1
448238,2:73734739:G>A,NM_015120.4:c.9537-12163G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.426,\N,\N,ALMS1
448239,2:73734771:G>A,NM_015120.4:c.9537-12131G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.02,\N,\N,ALMS1
448240,2:73734784:TTC>T,NM_015120.4:c.9537-12112_9537-12111del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448241,2:73734788:CTCTTT>C,NM_015120.4:c.9537-12109_9537-12105del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448242,2:73734815:G>A,NM_015120.4:c.9537-12087G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.009,\N,\N,ALMS1
448243,2:73734818:GTCTA>G,NM_015120.4:c.9537-12078_9537-12075del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448244,2:73734822:A>G,NM_015120.4:c.9537-12080A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.116,0.0014,1KG_AMR_AF,ALMS1
448245,2:73734827:T>C,NM_015120.4:c.9537-12075T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.892,0.004,1KG_EUR_AF,ALMS1
448246,2:73734843:G>A,NM_015120.4:c.9537-12059G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.157,0.001,1KG_EAS_AF,ALMS1
448247,2:73734852:G>C,NM_015120.4:c.9537-12050G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.074,0.0045,1KG_AFR_AF,ALMS1
448248,2:73734888:C>T,NM_015120.4:c.9537-12014C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.612,\N,\N,ALMS1
448249,2:73734889:G>A,NM_015120.4:c.9537-12013G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.894,0.001,1KG_EAS_AF,ALMS1
448250,2:73734895:C>G,NM_015120.4:c.9537-12007C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.142,0.001,1KG_SAS_AF,ALMS1
448251,2:73734897:A>G,NM_015120.4:c.9537-12005A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.536,\N,\N,ALMS1
448252,2:73734905:C>G,NM_015120.4:c.9537-11997C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.217,\N,\N,ALMS1
448253,2:73734945:G>C,NM_015120.4:c.9537-11957G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.658,0.0014,1KG_AMR_AF,ALMS1
448254,2:73734959:T>C,NM_015120.4:c.9537-11943T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.486,\N,\N,ALMS1
448255,2:73734967:G>A,NM_015120.4:c.9537-11935G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.119,0.0008,1KG_AFR_AF,ALMS1
448256,2:73734996:A>AG,NM_015120.4:c.9537-11903dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448257,2:73734997:G>CA,NM_015120.4:c.9537-11905delinsCA,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448258,2:73735004:G>A,NM_015120.4:c.9537-11898G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.233,0.0008,1KG_AFR_AF,ALMS1
448259,2:73735019:C>G,NM_015120.4:c.9537-11883C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.94,0.001,1KG_EAS_AF,ALMS1
448260,2:73735036:C>T,NM_015120.4:c.9537-11866C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.401,0.002,1KG_SAS_AF,ALMS1
448261,2:73735037:A>C,NM_015120.4:c.9537-11865A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.676,0.0008,1KG_AFR_AF,ALMS1
448262,2:73735048:T>C,NM_015120.4:c.9537-11854T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.335,0.003,1KG_EUR_AF,ALMS1
448263,2:73735065:A>G,NM_015120.4:c.9537-11837A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.215,0.001,1KG_EUR_AF,ALMS1
448264,2:73735071:T>C,NM_015120.4:c.9537-11831T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.051,\N,\N,ALMS1
448265,2:73735077:G>A,NM_015120.4:c.9537-11825G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.145,\N,\N,ALMS1
448266,2:73735093:G>T,NM_015120.4:c.9537-11809G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.068,\N,\N,ALMS1
448267,2:73735099:T>A,NM_015120.4:c.9537-11803T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.68,\N,\N,ALMS1
448268,2:73735112:C>A,NM_015120.4:c.9537-11790C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.067,\N,\N,ALMS1
448269,2:73735115:A>G,NM_015120.4:c.9537-11787A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.714,0.001,1KG_EAS_AF,ALMS1
448270,2:73735137:C>G,NM_015120.4:c.9537-11765C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.045,\N,\N,ALMS1
448271,2:73735152:T>G,NM_015120.4:c.9537-11750T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.291,0.0014,1KG_AMR_AF,ALMS1
448272,2:73735165:A>G,NM_015120.4:c.9537-11737A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.274,0.004,1KG_EUR_AF,ALMS1
448273,2:73735173:T>C,NM_015120.4:c.9537-11729T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.487,\N,\N,ALMS1
448274,2:73735202:A>G,NM_015120.4:c.9537-11700A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.772,0.002,1KG_EUR_AF,ALMS1
448275,2:73735209:C>T,NM_015120.4:c.9537-11693C>T,\N,\N,10/22,Benign,\N,intron_variant,0.441,0.0575,1KG_AFR_AF,ALMS1
448276,2:73735218:GTTTTC>G,NM_015120.4:c.9537-11677_9537-11673del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448277,2:73735218:GTTTTCTTTTCTC>G,NM_015120.4:c.9537-11661_9537-11650del,\N,\N,10/22,Unknown significance,\N,intron_variant,1.535,\N,\N,ALMS1
448278,2:73735232:T>A,NM_015120.4:c.9537-11670T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.612,\N,\N,ALMS1
448279,2:73735252:C>T,NM_015120.4:c.9537-11650C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.894,\N,\N,ALMS1
448280,2:73735268:C>CCCTTT,NM_015120.4:c.9537-11612_9537-11608dup,\N,\N,10/22,Unknown significance,\N,intron_variant,0.08,\N,\N,ALMS1
448281,2:73735268:CCCTTT>C,NM_015120.4:c.9537-11612_9537-11608del,\N,\N,10/22,Benign,\N,intron_variant,0.826,0.0862,1KG_AFR_AF,ALMS1
448282,2:73735273:T>TC,NM_015120.4:c.9537-11627dup,\N,\N,10/22,Unknown significance,\N,intron_variant,0.271,\N,\N,ALMS1
448283,2:73735273:T>TCCTTC,NM_015120.4:c.9537-11625_9537-11624insCCCTT,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448284,2:73735282:T>C,NM_015120.4:c.9537-11620T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.655,0.0008,1KG_AFR_AF,ALMS1
448285,2:73735300:T>C,NM_015120.4:c.9537-11602T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.03,0.0008,1KG_AFR_AF,ALMS1
448286,2:73735310:A>C,NM_015120.4:c.9537-11592A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.688,\N,\N,ALMS1
448287,2:73735322:TTTC>T,NM_015120.4:c.9537-11568_9537-11566del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448288,2:73735334:C>CT,NM_015120.4:c.9537-11551dup,\N,\N,10/22,Unknown significance,\N,intron_variant,3.241,\N,\N,ALMS1
448289,2:73735334:CT>C,NM_015120.4:c.9537-11551del,\N,\N,10/22,Benign,\N,intron_variant,4.536,0.253,1KG_EAS_AF,ALMS1
448290,2:73735351:T>C,NM_015120.4:c.9537-11551T>C,\N,\N,10/22,Benign,\N,intron_variant,1.711,0.1326,1KG_AMR_AF,ALMS1
448291,2:73735362:C>G,NM_015120.4:c.9537-11540C>G,\N,\N,10/22,Benign,\N,intron_variant,0.957,0.0061,1KG_AFR_AF,ALMS1
448292,2:73735392:C>T,NM_015120.4:c.9537-11510C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.055,0.0015,1KG_AFR_AF,ALMS1
448293,2:73735393:G>A,NM_015120.4:c.9537-11509G>A,\N,\N,10/22,Benign,\N,intron_variant,1.693,0.0102,1KG_SAS_AF,ALMS1
448294,2:73735393:G>T,NM_015120.4:c.9537-11509G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.681,\N,\N,ALMS1
448295,2:73735418:C>T,NM_015120.4:c.9537-11484C>T,\N,\N,10/22,Benign,\N,intron_variant,3.578,0.0287,1KG_AFR_AF,ALMS1
448296,2:73735440:C>T,NM_015120.4:c.9537-11462C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.758,0.001,1KG_EUR_AF,ALMS1
448297,2:73735452:C>T,NM_015120.4:c.9537-11450C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.811,\N,\N,ALMS1
448298,2:73735453:C>T,NM_015120.4:c.9537-11449C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.632,\N,\N,ALMS1
448299,2:73735479:G>A,NM_015120.4:c.9537-11423G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.275,0.0008,1KG_AFR_AF,ALMS1
448300,2:73735534:G>A,NM_015120.4:c.9537-11368G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.143,\N,\N,ALMS1
448301,2:73735549:G>C,NM_015120.4:c.9537-11353G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.593,\N,\N,ALMS1
448302,2:73735553:C>T,NM_015120.4:c.9537-11349C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.288,\N,\N,ALMS1
448303,2:73735570:G>C,NM_015120.4:c.9537-11332G>C,\N,\N,10/22,Benign,\N,intron_variant,0.369,0.0061,1KG_AFR_AF,ALMS1
448304,2:73735573:C>A,NM_015120.4:c.9537-11329C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.158,0.0008,1KG_AFR_AF,ALMS1
448305,2:73735579:G>A,NM_015120.4:c.9537-11323G>A,\N,\N,10/22,Benign,\N,intron_variant,0.16,0.0197,1KG_AFR_AF,ALMS1
448306,2:73735598:C>T,NM_015120.4:c.9537-11304C>T,\N,\N,10/22,Benign,\N,intron_variant,2.566,0.0174,1KG_AFR_AF,ALMS1
448307,2:73735602:G>C,NM_015120.4:c.9537-11300G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.344,\N,\N,ALMS1
448308,2:73735607:C>G,NM_015120.4:c.9537-11295C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.747,0.001,1KG_SAS_AF,ALMS1
448309,2:73735608:A>G,NM_015120.4:c.9537-11294A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.085,0.001,1KG_EAS_AF,ALMS1
448310,2:73735616:G>A,NM_015120.4:c.9537-11286G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.545,0.001,1KG_EUR_AF,ALMS1
448311,2:73735621:C>T,NM_015120.4:c.9537-11281C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.173,0.001,1KG_SAS_AF,ALMS1
448312,2:73735624:A>C,NM_015120.4:c.9537-11278A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.068,0.001,1KG_EAS_AF,ALMS1
448313,2:73735625:C>T,NM_015120.4:c.9537-11277C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.925,\N,\N,ALMS1
448314,2:73735627:C>T,NM_015120.4:c.9537-11275C>T,\N,\N,10/22,Benign,\N,intron_variant,0.13,0.0068,1KG_AFR_AF,ALMS1
448315,2:73735657:T>C,NM_015120.4:c.9537-11245T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,6.517,\N,\N,ALMS1
448316,2:73735670:C>G,NM_015120.4:c.9537-11232C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,5.252,\N,\N,ALMS1
448317,2:73735674:A>G,NM_015120.4:c.9537-11228A>G,\N,\N,10/22,Benign,\N,intron_variant,6.433,0.9652,1KG_AFR_AF,ALMS1
448318,2:73735681:G>A,NM_015120.4:c.9537-11221G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.625,\N,\N,ALMS1
448319,2:73735739:A>T,NM_015120.4:c.9537-11163A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.096,\N,\N,ALMS1
448320,2:73735763:G>C,NM_015120.4:c.9537-11139G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.364,0.002,1KG_SAS_AF,ALMS1
448321,2:73735768:A>G,NM_015120.4:c.9537-11134A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.51,\N,\N,ALMS1
448322,2:73735786:T>C,NM_015120.4:c.9537-11116T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.1,\N,\N,ALMS1
448323,2:73735809:G>A,NM_015120.4:c.9537-11093G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.192,0.0008,1KG_AFR_AF,ALMS1
448324,2:73735826:T>C,NM_015120.4:c.9537-11076T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.377,0.002,1KG_EAS_AF,ALMS1
448325,2:73735864:C>G,NM_015120.4:c.9537-11038C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.255,\N,\N,ALMS1
448326,2:73735871:T>A,NM_015120.4:c.9537-11031T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.507,\N,\N,ALMS1
448327,2:73735883:G>C,NM_015120.4:c.9537-11019G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.275,\N,\N,ALMS1
448328,2:73735917:C>T,NM_015120.4:c.9537-10985C>T,\N,\N,10/22,Benign,\N,intron_variant,3.504,0.0265,1KG_AFR_AF,ALMS1
448329,2:73735920:G>A,NM_015120.4:c.9537-10982G>A,\N,\N,10/22,Benign,\N,intron_variant,0.43,0.0113,1KG_AFR_AF,ALMS1
448330,2:73735942:A>G,NM_015120.4:c.9537-10960A>G,\N,\N,10/22,Benign,\N,intron_variant,0.79,0.0703,1KG_AFR_AF,ALMS1
448331,2:73735955:G>A,NM_015120.4:c.9537-10947G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.379,0.0008,1KG_AFR_AF,ALMS1
448332,2:73735965:A>G,NM_015120.4:c.9537-10937A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.838,0.001,1KG_SAS_AF,ALMS1
448333,2:73735970:C>T,NM_015120.4:c.9537-10932C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.373,\N,\N,ALMS1
448334,2:73735971:G>A,NM_015120.4:c.9537-10931G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.03,0.001,1KG_EAS_AF|1KG_SAS_AF,ALMS1
448335,2:73735981:C>T,NM_015120.4:c.9537-10921C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,7.832,0.0015,1KG_AFR_AF,ALMS1
448336,2:73735983:A>T,NM_015120.4:c.9537-10919A>T,\N,\N,10/22,Benign,\N,intron_variant,7.206,0.0204,1KG_AFR_AF,ALMS1
448337,2:73735999:C>T,NM_015120.4:c.9537-10903C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.957,\N,\N,ALMS1
448338,2:73736008:C>T,NM_015120.4:c.9537-10894C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.41,0.001,1KG_EAS_AF,ALMS1
448339,2:73736011:G>T,NM_015120.4:c.9537-10891G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,9.77,\N,\N,ALMS1
448340,2:73736045:A>G,NM_015120.4:c.9537-10857A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.348,\N,\N,ALMS1
448341,2:73736086:C>T,NM_015120.4:c.9537-10816C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.336,\N,\N,ALMS1
448342,2:73736087:G>C,NM_015120.4:c.9537-10815G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.049,0.001,1KG_EAS_AF,ALMS1
448343,2:73736107:CT>C,NM_015120.4:c.9537-10793del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448344,2:73736123:G>T,NM_015120.4:c.9537-10779G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.066,0.0008,1KG_AFR_AF,ALMS1
448345,2:73736124:A>G,NM_015120.4:c.9537-10778A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.227,\N,\N,ALMS1
448346,2:73736150:A>G,NM_015120.4:c.9537-10752A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.889,\N,\N,ALMS1
448347,2:73736171:C>G,NM_015120.4:c.9537-10731C>G,\N,\N,10/22,Benign,\N,intron_variant,0.34,0.0106,1KG_AFR_AF,ALMS1
448348,2:73736172:CCT>C,NM_015120.4:c.9537-10729_9537-10728del,\N,\N,10/22,Unknown significance,\N,intron_variant,2.028,\N,\N,ALMS1
448349,2:73736175:GTTTT>G,NM_015120.4:c.9537-10721_9537-10718del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448350,2:73736196:GT>G,NM_015120.4:c.9537-10704del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,ALMS1
448351,2:73736216:T>A,NM_015120.4:c.9537-10686T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.645,0.001,1KG_SAS_AF,ALMS1
448352,2:73736240:C>G,NM_015120.4:c.9537-10662C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.284,\N,\N,ALMS1
448353,2:73736262:T>C,NM_015120.4:c.9537-10640T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.336,\N,\N,ALMS1
448354,2:73736277:A>G,NM_015120.4:c.9537-10625A>G,\N,\N,10/22,Benign,\N,intron_variant,0.155,0.0068,1KG_AFR_AF,ALMS1
448355,2:73736286:G>A,NM_015120.4:c.9537-10616G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.609,0.001,1KG_EAS_AF,ALMS1
448356,2:73736319:C>T,NM_015120.4:c.9537-10583C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,14.78,0.001,1KG_EUR_AF,ALMS1
448357,2:73736328:C>T,NM_015120.4:c.9537-10574C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,9.376,\N,\N,ALMS1
448358,2:73736359:C>T,NM_015120.4:c.9537-10543C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.718,\N,\N,ALMS1
448359,2:73736391:G>A,NM_015120.4:c.9537-10511G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.58,0.0008,1KG_AFR_AF,ALMS1
448360,2:73736486:T>TTTA,NM_015120.4:c.9537-10398_9537-10396dup,\N,\N,10/22,Unknown significance,\N,intron_variant,0.796,0.0029,1KG_AMR_AF,ALMS1
448361,2:73736534:T>G,NM_015120.4:c.9537-10368T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.63,\N,\N,ALMS1
448362,2:73736602:A>T,NM_015120.4:c.9537-10300A>T,\N,\N,10/22,Benign,\N,intron_variant,0.789,0.0197,1KG_AFR_AF,ALMS1
448363,2:73736607:C>A,NM_015120.4:c.9537-10295C>A,\N,\N,10/22,Benign,\N,intron_variant,2.497,0.0567,1KG_AFR_AF,ALMS1
448364,2:73736616:A>T,NM_015120.4:c.9537-10286A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.832,0.0008,1KG_AFR_AF,ALMS1
448365,2:73736650:A>G,NM_015120.4:c.9537-10252A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.75,0.001,1KG_SAS_AF,ALMS1
448366,2:73736657:C>T,NM_015120.4:c.9537-10245C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.378,0.0008,1KG_AFR_AF,ALMS1
448367,2:73736676:T>C,NM_015120.4:c.9537-10226T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.017,\N,\N,ALMS1
448368,2:73736713:C>G,NM_015120.4:c.9537-10189C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.434,0.0008,1KG_AFR_AF,ALMS1
448369,2:73736745:C>T,NM_015120.4:c.9537-10157C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.056,0.001,1KG_EAS_AF,ALMS1
448370,2:73736770:G>A,NM_015120.4:c.9537-10132G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.039,\N,\N,ALMS1
448371,2:73736829:C>T,NM_015120.4:c.9537-10073C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.824,\N,\N,ALMS1
448372,2:73736853:G>C,NM_015120.4:c.9537-10049G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,10.58,0.001,1KG_SAS_AF,ALMS1
448373,2:73736861:G>A,NM_015120.4:c.9537-10041G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.27,0.0045,1KG_AFR_AF,ALMS1
448374,2:73736864:T>C,NM_015120.4:c.9537-10038T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,9.794,0.0008,1KG_AFR_AF,ALMS1
448375,2:73736880:T>C,NM_015120.4:c.9537-10022T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.496,0.0008,1KG_AFR_AF,ALMS1
448376,2:73736893:T>C,NM_015120.4:c.9537-10009T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.654,\N,\N,ALMS1
448377,2:73736900:T>G,NM_015120.4:c.9537-10002T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.226,\N,\N,ALMS1
448378,2:73736924:T>C,NM_015120.4:c.9537-9978T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.95,0.0014,1KG_AMR_AF,ALMS1
448379,2:73736932:A>T,NM_015120.4:c.9537-9970A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.108,0.003,1KG_EUR_AF,ALMS1
448380,2:73736933:G>T,NM_015120.4:c.9537-9969G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.647,0.004,1KG_EAS_AF,ALMS1
448381,2:73736957:C>G,NM_015120.4:c.9537-9945C>G,\N,\N,10/22,Benign,\N,intron_variant,1.26,0.2044,1KG_EAS_AF,ALMS1
448382,2:73736965:A>T,NM_015120.4:c.9537-9937A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.239,\N,\N,ALMS1
448383,2:73736973:C>T,NM_015120.4:c.9537-9929C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.319,0.0008,1KG_AFR_AF,ALMS1
448384,2:73737025:A>G,NM_015120.4:c.9537-9877A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.143,0.001,1KG_SAS_AF,ALMS1
448385,2:73737032:G>A,NM_015120.4:c.9537-9870G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.28,\N,\N,ALMS1
448386,2:73737075:C>A,NM_015120.4:c.9537-9827C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.673,0.0008,1KG_AFR_AF,ALMS1
448387,2:73737157:C>T,NM_015120.4:c.9537-9745C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.617,\N,\N,ALMS1
448388,2:73737171:C>G,NM_015120.4:c.9537-9731C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.2,0.004,1KG_EUR_AF,ALMS1
448389,2:73737184:T>C,NM_015120.4:c.9537-9718T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.958,0.001,1KG_EUR_AF,ALMS1
448390,2:73737204:A>T,NM_015120.4:c.9537-9698A>T,\N,\N,10/22,Benign,\N,intron_variant,1.061,0.674,1KG_AFR_AF,ALMS1
448391,2:73737238:A>G,NM_015120.4:c.9537-9664A>G,\N,\N,10/22,Benign,\N,intron_variant,11.59,0.006,1KG_EAS_AF,ALMS1
448392,2:73737249:C>G,NM_015120.4:c.9537-9653C>G,\N,\N,10/22,Benign,\N,intron_variant,10.71,0.0091,1KG_AFR_AF,ALMS1
448393,2:73737278:T>C,NM_015120.4:c.9537-9624T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.437,\N,\N,ALMS1
448394,2:73737304:C>T,NM_015120.4:c.9537-9598C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.138,0.0008,1KG_AFR_AF,ALMS1
448395,2:73737305:G>A,NM_015120.4:c.9537-9597G>A,\N,\N,10/22,Benign,\N,intron_variant,0.258,0.0068,1KG_AFR_AF,ALMS1
448396,2:73737308:G>A,NM_015120.4:c.9537-9594G>A,\N,\N,10/22,Benign,\N,intron_variant,1.76,0.0204,1KG_AFR_AF,ALMS1
448397,2:73737310:A>G,NM_015120.4:c.9537-9592A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.243,0.001,1KG_EUR_AF,ALMS1
448398,2:73737340:C>T,NM_015120.4:c.9537-9562C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.594,0.0029,1KG_AMR_AF,ALMS1
448399,2:73737348:A>C,NM_015120.4:c.9537-9554A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.227,0.001,1KG_SAS_AF,ALMS1
448400,2:73737403:T>C,NM_015120.4:c.9537-9499T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,12.07,0.003,1KG_AFR_AF,ALMS1
448401,2:73737408:G>A,NM_015120.4:c.9537-9494G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.41,0.0014,1KG_AMR_AF,ALMS1
448402,2:73737425:G>C,NM_015120.4:c.9537-9477G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.786,0.0023,1KG_AFR_AF,ALMS1
448403,2:73737478:A>G,NM_015120.4:c.9537-9424A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.389,\N,\N,ALMS1
448404,2:73737531:C>T,NM_015120.4:c.9537-9371C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.628,0.001,1KG_SAS_AF,ALMS1
448405,2:73737532:G>A,NM_015120.4:c.9537-9370G>A,\N,\N,10/22,Benign,\N,intron_variant,0.086,0.2549,1KG_AFR_AF,ALMS1
448406,2:73737583:C>G,NM_015120.4:c.9537-9319C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.52,0.001,1KG_EUR_AF,ALMS1
448407,2:73737646:G>A,NM_015120.4:c.9537-9256G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,15.17,0.001,1KG_EAS_AF,ALMS1
448408,2:73737665:A>G,NM_015120.4:c.9537-9237A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.309,0.001,1KG_EAS_AF,ALMS1
448409,2:73737666:T>A,NM_015120.4:c.9537-9236T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.977,0.001,1KG_EAS_AF,ALMS1
448410,2:73737689:T>G,NM_015120.4:c.9537-9213T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.452,0.001,1KG_SAS_AF,ALMS1
448411,2:73737695:C>A,NM_015120.4:c.9537-9207C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.415,0.001,1KG_EAS_AF,ALMS1
448412,2:73737713:G>A,NM_015120.4:c.9537-9189G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.052,0.0015,1KG_AFR_AF,ALMS1
448413,2:73737734:C>T,NM_015120.4:c.9537-9168C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.2,\N,\N,ALMS1
448414,2:73737739:G>A,NM_015120.4:c.9537-9163G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.771,\N,\N,ALMS1
448415,2:73737752:G>T,NM_015120.4:c.9537-9150G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.998,\N,\N,ALMS1
448416,2:73737757:C>G,NM_015120.4:c.9537-9145C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.988,\N,\N,ALMS1
448417,2:73737781:C>T,NM_015120.4:c.9537-9121C>T,\N,\N,10/22,Benign,\N,intron_variant,2.327,0.0068,1KG_AFR_AF,ALMS1
448418,2:73737795:C>G,NM_015120.4:c.9537-9107C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.993,\N,\N,ALMS1
448419,2:73737812:C>G,NM_015120.4:c.9537-9090C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.025,0.0008,1KG_AFR_AF,ALMS1
448420,2:73737833:T>TG,NM_015120.4:c.9537-9067dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448421,2:73737834:G>A,NM_015120.4:c.9537-9068G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.63,\N,\N,ALMS1
448422,2:73737837:G>A,NM_015120.4:c.9537-9065G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.566,0.0014,1KG_AMR_AF,ALMS1
448423,2:73737851:T>C,NM_015120.4:c.9537-9051T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.785,0.001,1KG_EUR_AF,ALMS1
448424,2:73737851:TAGC>T,NM_015120.4:c.9537-9048_9537-9046del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448425,2:73737861:C>T,NM_015120.4:c.9537-9041C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.613,0.001,1KG_SAS_AF,ALMS1
448426,2:73737874:G>C,NM_015120.4:c.9537-9028G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.029,0.0008,1KG_AFR_AF,ALMS1
448427,2:73737884:C>T,NM_015120.4:c.9537-9018C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.895,0.001,1KG_EUR_AF,ALMS1
448428,2:73737913:C>T,NM_015120.4:c.9537-8989C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.133,\N,\N,ALMS1
448429,2:73737914:G>A,NM_015120.4:c.9537-8988G>A,\N,\N,10/22,Benign,\N,intron_variant,2.795,0.0102,1KG_SAS_AF,ALMS1
448430,2:73737925:C>T,NM_015120.4:c.9537-8977C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.831,0.001,1KG_EAS_AF,ALMS1
448431,2:73737930:G>A,NM_015120.4:c.9537-8972G>A,\N,\N,10/22,Benign,\N,intron_variant,2.826,0.0051,1KG_SAS_AF,ALMS1
448432,2:73737938:C>T,NM_015120.4:c.9537-8964C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.392,0.001,1KG_EUR_AF,ALMS1
448433,2:73737945:G>A,NM_015120.4:c.9537-8957G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.528,\N,\N,ALMS1
448434,2:73737954:C>G,NM_015120.4:c.9537-8948C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.728,0.0015,1KG_AFR_AF,ALMS1
448435,2:73737971:AG>A,NM_015120.4:c.9537-8928del,\N,\N,10/22,Unknown significance,\N,intron_variant,4.738,0.0041,1KG_SAS_AF,ALMS1
448436,2:73737973:G>A,NM_015120.4:c.9537-8929G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.776,0.0014,1KG_AMR_AF,ALMS1
448437,2:73737992:A>G,NM_015120.4:c.9537-8910A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.498,0.002,1KG_SAS_AF,ALMS1
448438,2:73738004:C>G,NM_015120.4:c.9537-8898C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,7.388,0.001,1KG_SAS_AF,ALMS1
448439,2:73738015:G>T,NM_015120.4:c.9537-8887G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.92,0.001,1KG_EAS_AF,ALMS1
448440,2:73738030:A>T,NM_015120.4:c.9537-8872A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.329,\N,\N,ALMS1
448441,2:73738039:C>T,NM_015120.4:c.9537-8863C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.447,0.0014,1KG_AMR_AF,ALMS1
448442,2:73738054:C>T,NM_015120.4:c.9537-8848C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.752,\N,\N,ALMS1
448443,2:73738057:G>C,NM_015120.4:c.9537-8845G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.292,\N,\N,ALMS1
448444,2:73738062:G>A,NM_015120.4:c.9537-8840G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.301,0.001,1KG_EAS_AF,ALMS1
448445,2:73738067:C>G,NM_015120.4:c.9537-8835C>G,\N,\N,10/22,Benign,\N,intron_variant,2.157,0.0666,1KG_AFR_AF,ALMS1
448446,2:73738096:C>T,NM_015120.4:c.9537-8806C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.39,0.001,1KG_EAS_AF,ALMS1
448447,2:73738097:G>A,NM_015120.4:c.9537-8805G>A,\N,\N,10/22,Benign,\N,intron_variant,0.046,0.0079,1KG_EAS_AF,ALMS1
448448,2:73738167:C>G,NM_015120.4:c.9537-8735C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.951,\N,\N,ALMS1
448449,2:73738225:G>A,NM_015120.4:c.9537-8677G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.143,0.001,1KG_SAS_AF,ALMS1
448450,2:73738249:C>G,NM_015120.4:c.9537-8653C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.554,\N,\N,ALMS1
448451,2:73738256:G>T,NM_015120.4:c.9537-8646G>T,\N,\N,10/22,Benign,\N,intron_variant,0.88,0.0182,1KG_AFR_AF,ALMS1
448452,2:73738282:CT>C,NM_015120.4:c.9537-8618del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448453,2:73738287:C>T,NM_015120.4:c.9537-8615C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.935,\N,\N,ALMS1
448454,2:73738349:G>A,NM_015120.4:c.9537-8553G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.407,0.0023,1KG_AFR_AF,ALMS1
448455,2:73738350:C>T,NM_015120.4:c.9537-8552C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.615,0.003,1KG_EAS_AF,ALMS1
448456,2:73738387:C>T,NM_015120.4:c.9537-8515C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.427,\N,\N,ALMS1
448457,2:73738388:G>C,NM_015120.4:c.9537-8514G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.011,\N,\N,ALMS1
448458,2:73738397:C>T,NM_015120.4:c.9537-8505C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.129,0.001,1KG_SAS_AF,ALMS1
448459,2:73738407:G>A,NM_015120.4:c.9537-8495G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.508,\N,\N,ALMS1
448460,2:73738422:T>C,NM_015120.4:c.9537-8480T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,6.594,\N,\N,ALMS1
448461,2:73738461:C>T,NM_015120.4:c.9537-8441C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.612,0.0031,1KG_SAS_AF,ALMS1
448462,2:73738471:G>T,NM_015120.4:c.9537-8431G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.875,\N,\N,ALMS1
448463,2:73738480:G>A,NM_015120.4:c.9537-8422G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.869,0.001,1KG_EAS_AF,ALMS1
448464,2:73738485:CTG>C,NM_015120.4:c.9537-8414_9537-8413del,\N,\N,10/22,Benign,\N,intron_variant,0.411,0.0053,1KG_AFR_AF,ALMS1
448465,2:73738494:A>G,NM_015120.4:c.9537-8408A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.459,\N,\N,ALMS1
448466,2:73738532:C>A,NM_015120.4:c.9537-8370C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,4.482,0.0008,1KG_AFR_AF,ALMS1
448467,2:73738542:G>C,NM_015120.4:c.9537-8360G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.278,0.001,1KG_EUR_AF,ALMS1
448468,2:73738547:G>A,NM_015120.4:c.9537-8355G>A,\N,\N,10/22,Benign,\N,intron_variant,5.581,0.0164,1KG_SAS_AF,ALMS1
448469,2:73738552:TC>T,NM_015120.4:c.9537-8346del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448470,2:73738561:C>T,NM_015120.4:c.9537-8341C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.99,0.0014,1KG_AMR_AF,ALMS1
448471,2:73738572:C>T,NM_015120.4:c.9537-8330C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.285,\N,\N,ALMS1
448472,2:73738573:C>T,NM_015120.4:c.9537-8329C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.688,0.0038,1KG_AFR_AF,ALMS1
448473,2:73738582:C>T,NM_015120.4:c.9537-8320C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.674,0.002,1KG_EUR_AF,ALMS1
448474,2:73738586:AC>A,NM_015120.4:c.9537-8311del,\N,\N,10/22,Benign,\N,intron_variant,1.825,0.0696,1KG_AFR_AF,ALMS1
448475,2:73738629:T>C,NM_015120.4:c.9537-8273T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,2.053,\N,\N,ALMS1
448476,2:73738645:A>G,NM_015120.4:c.9537-8257A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.916,\N,\N,ALMS1
448477,2:73738654:A>G,NM_015120.4:c.9537-8248A>G,\N,\N,10/22,Benign,\N,intron_variant,4.472,0.0101,1KG_AMR_AF,ALMS1
448478,2:73738667:G>A,NM_015120.4:c.9537-8235G>A,\N,\N,10/22,Benign,\N,intron_variant,1.193,0.0673,1KG_AFR_AF,ALMS1
448479,2:73738669:C>T,NM_015120.4:c.9537-8233C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.044,\N,\N,ALMS1
448480,2:73738670:G>A,NM_015120.4:c.9537-8232G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.29,\N,\N,ALMS1
448481,2:73738684:C>A,NM_015120.4:c.9537-8218C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.386,\N,\N,ALMS1
448482,2:73738684:C>T,NM_015120.4:c.9537-8218C>T,\N,\N,10/22,Benign,\N,intron_variant,2.883,0.0308,1KG_EAS_AF,ALMS1
448483,2:73738686:C>T,NM_015120.4:c.9537-8216C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.649,0.001,1KG_EUR_AF,ALMS1
448484,2:73738693:T>C,NM_015120.4:c.9537-8209T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.125,0.002,1KG_EAS_AF,ALMS1
448485,2:73738701:G>A,NM_015120.4:c.9537-8201G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.11,0.0008,1KG_AFR_AF,ALMS1
448486,2:73738726:A>T,NM_015120.4:c.9537-8176A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.038,0.001,1KG_SAS_AF,ALMS1
448487,2:73738743:A>G,NM_015120.4:c.9537-8159A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.989,\N,\N,ALMS1
448488,2:73738746:T>G,NM_015120.4:c.9537-8156T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.843,\N,\N,ALMS1
448489,2:73738785:A>G,NM_015120.4:c.9537-8117A>G,\N,\N,10/22,Benign,\N,intron_variant,0.211,0.0719,1KG_AFR_AF,ALMS1
448490,2:73738797:T>G,NM_015120.4:c.9537-8105T>G,\N,\N,10/22,Benign,\N,intron_variant,10.41,0.005,1KG_EAS_AF,ALMS1
448491,2:73738804:A>G,NM_015120.4:c.9537-8098A>G,\N,\N,10/22,Benign,\N,intron_variant,11.12,0.5023,1KG_AFR_AF,ALMS1
448492,2:73738815:T>C,NM_015120.4:c.9537-8087T>C,\N,\N,10/22,Benign,\N,intron_variant,6.883,0.1392,1KG_AFR_AF,ALMS1
448493,2:73738831:T>A,NM_015120.4:c.9537-8071T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,7.882,0.001,1KG_EAS_AF,ALMS1
448494,2:73738845:G>T,NM_015120.4:c.9537-8057G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.077,0.0008,1KG_AFR_AF,ALMS1
448495,2:73738850:TG>T,NM_015120.4:c.9537-8049del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448496,2:73738909:C>A,NM_015120.4:c.9537-7993C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,3.048,\N,\N,ALMS1
448497,2:73738915:A>C,NM_015120.4:c.9537-7987A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.021,\N,\N,ALMS1
448498,2:73738981:G>A,NM_015120.4:c.9537-7921G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.085,\N,\N,ALMS1
448499,2:73738996:T>C,NM_015120.4:c.9537-7906T>C,\N,\N,10/22,Benign,\N,intron_variant,4.902,0.0387,1KG_EAS_AF,ALMS1
448500,2:73739062:A>G,NM_015120.4:c.9537-7840A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.972,0.0014,1KG_AMR_AF,ALMS1
448501,2:73739110:A>G,NM_015120.4:c.9537-7792A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.462,0.0014,1KG_AMR_AF,ALMS1
448502,2:73739129:A>G,NM_015120.4:c.9537-7773A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.553,\N,\N,ALMS1
448503,2:73739135:A>G,NM_015120.4:c.9537-7767A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.742,\N,\N,ALMS1
448504,2:73739143:G>A,NM_015120.4:c.9537-7759G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.895,0.0008,1KG_AFR_AF,ALMS1
448505,2:73739219:G>A,NM_015120.4:c.9537-7683G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.3,0.0008,1KG_AFR_AF,ALMS1
448506,2:73739254:A>G,NM_015120.4:c.9537-7648A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.437,\N,\N,ALMS1
448507,2:73739278:C>T,NM_015120.4:c.9537-7624C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.222,0.001,1KG_SAS_AF,ALMS1
448508,2:73739286:A>G,NM_015120.4:c.9537-7616A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.275,\N,\N,ALMS1
448509,2:73739293:C>G,NM_015120.4:c.9537-7609C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.463,\N,\N,ALMS1
448510,2:73739293:C>T,NM_015120.4:c.9537-7609C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.721,0.001,1KG_SAS_AF,ALMS1
448511,2:73739305:G>A,NM_015120.4:c.9537-7597G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.647,\N,\N,ALMS1
448512,2:73739314:C>T,NM_015120.4:c.9537-7588C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.13,\N,\N,ALMS1
448513,2:73739317:T>G,NM_015120.4:c.9537-7585T>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.332,0.0023,1KG_AFR_AF,ALMS1
448514,2:73739341:A>G,NM_015120.4:c.9537-7561A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.814,\N,\N,ALMS1
448515,2:73739344:T>TG,NM_015120.4:c.9537-7555dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448516,2:73739359:G>A,NM_015120.4:c.9537-7543G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.017,\N,\N,ALMS1
448517,2:73739364:A>G,NM_015120.4:c.9537-7538A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.34,0.0014,1KG_AMR_AF,ALMS1
448518,2:73739368:C>T,NM_015120.4:c.9537-7534C>T,\N,\N,10/22,Benign,\N,intron_variant,1.598,0.0091,1KG_AFR_AF,ALMS1
448519,2:73739369:G>A,NM_015120.4:c.9537-7533G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.212,\N,\N,ALMS1
448520,2:73739375:C>G,NM_015120.4:c.9537-7527C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.403,0.0029,1KG_AMR_AF,ALMS1
448521,2:73739393:G>A,NM_015120.4:c.9537-7509G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.456,0.0008,1KG_AFR_AF,ALMS1
448522,2:73739418:G>T,NM_015120.4:c.9537-7484G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.163,0.0015,1KG_AFR_AF,ALMS1
448523,2:73739420:G>C,NM_015120.4:c.9537-7482G>C,\N,\N,10/22,Benign,\N,intron_variant,0.03,0.2557,1KG_AFR_AF,ALMS1
448524,2:73739426:G>A,NM_015120.4:c.9537-7476G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.616,\N,\N,ALMS1
448525,2:73739427:G>C,NM_015120.4:c.9537-7475G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.44,0.0041,1KG_SAS_AF,ALMS1
448526,2:73739489:C>T,NM_015120.4:c.9537-7413C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.378,0.001,1KG_SAS_AF,ALMS1
448527,2:73739490:G>A,NM_015120.4:c.9537-7412G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,0.047,0.0023,1KG_AFR_AF,ALMS1
448528,2:73739504:C>G,NM_015120.4:c.9537-7398C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.218,0.0008,1KG_AFR_AF,ALMS1
448529,2:73739519:T>A,NM_015120.4:c.9537-7383T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,2.612,\N,\N,ALMS1
448530,2:73739532:T>A,NM_015120.4:c.9537-7370T>A,\N,\N,10/22,Benign,\N,intron_variant,3.685,0.0101,1KG_AMR_AF,ALMS1
448531,2:73739559:G>A,NM_015120.4:c.9537-7343G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.935,0.0023,1KG_AFR_AF,ALMS1
448532,2:73739562:G>C,NM_015120.4:c.9537-7340G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,0.245,0.001,1KG_EAS_AF,ALMS1
448533,2:73739570:A>G,NM_015120.4:c.9537-7332A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.922,\N,\N,ALMS1
448534,2:73739573:A>T,NM_015120.4:c.9537-7329A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.254,\N,\N,ALMS1
448535,2:73739583:T>C,NM_015120.4:c.9537-7319T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.528,0.001,1KG_EUR_AF,ALMS1
448536,2:73739586:G>A,NM_015120.4:c.9537-7316G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,1.237,\N,\N,ALMS1
448537,2:73739596:A>G,NM_015120.4:c.9537-7306A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,3.814,0.001,1KG_SAS_AF,ALMS1
448538,2:73739599:A>G,NM_015120.4:c.9537-7303A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.964,0.001,1KG_EAS_AF,ALMS1
448539,2:73739634:A>G,NM_015120.4:c.9537-7268A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,4.638,0.001,1KG_EUR_AF,ALMS1
448540,2:73739667:A>AT,NM_015120.4:c.9537-7231dup,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448541,2:73739697:A>G,NM_015120.4:c.9537-7205A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,19.24,\N,\N,ALMS1
448542,2:73739708:CTT>C,NM_015120.4:c.9537-7192_9537-7191del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448543,2:73739784:C>T,NM_015120.4:c.9537-7118C>T,\N,\N,10/22,Benign,\N,intron_variant,1.647,0.0199,1KG_EUR_AF,ALMS1
448544,2:73739828:A>T,NM_015120.4:c.9537-7074A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,9.323,\N,\N,ALMS1
448545,2:73739848:G>T,NM_015120.4:c.9537-7054G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,11.99,0.0043,1KG_AMR_AF,ALMS1
448546,2:73739878:C>G,NM_015120.4:c.9537-7024C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,6.804,\N,\N,ALMS1
448547,2:73739894:G>A,NM_015120.4:c.9537-7008G>A,\N,\N,10/22,Benign,\N,intron_variant,0.398,0.0139,1KG_EUR_AF,ALMS1
448548,2:73739922:T>A,NM_015120.4:c.9537-6980T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,14.93,\N,\N,ALMS1
448549,2:73739928:A>G,NM_015120.4:c.9537-6974A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,13.07,0.001,1KG_EUR_AF,ALMS1
448550,2:73740030:A>G,NM_015120.4:c.9537-6872A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.866,0.001,1KG_EAS_AF,ALMS1
448551,2:73740044:A>G,NM_015120.4:c.9537-6858A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,12.42,0.001,1KG_EAS_AF,ALMS1
448552,2:73740052:G>T,NM_015120.4:c.9537-6850G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,10.46,0.001,1KG_SAS_AF,ALMS1
448553,2:73740105:A>G,NM_015120.4:c.9537-6797A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.289,0.001,1KG_EUR_AF,ALMS1
448554,2:73740126:C>T,NM_015120.4:c.9537-6776C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.829,0.0015,1KG_AFR_AF,ALMS1
448555,2:73740180:G>C,NM_015120.4:c.9537-6722G>C,\N,\N,10/22,Unknown significance,\N,intron_variant,1.174,0.0038,1KG_AFR_AF,ALMS1
448556,2:73740210:C>T,NM_015120.4:c.9537-6692C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.652,\N,\N,ALMS1
448557,2:73740211:G>A,NM_015120.4:c.9537-6691G>A,\N,\N,10/22,Benign,\N,intron_variant,0.963,0.0371,1KG_AFR_AF,ALMS1
448558,2:73740233:C>T,NM_015120.4:c.9537-6669C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.816,\N,\N,ALMS1
448559,2:73740252:A>C,NM_015120.4:c.9537-6650A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,4.094,0.001,1KG_EUR_AF,ALMS1
448560,2:73740308:C>T,NM_015120.4:c.9537-6594C>T,\N,\N,10/22,Benign,\N,intron_variant,5.458,0.0051,1KG_SAS_AF,ALMS1
448561,2:73740315:C>T,NM_015120.4:c.9537-6587C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.69,0.004,1KG_EAS_AF,ALMS1
448562,2:73740335:A>G,NM_015120.4:c.9537-6567A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.725,0.0015,1KG_AFR_AF,ALMS1
448563,2:73740352:T>A,NM_015120.4:c.9537-6550T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,15.15,0.001,1KG_EAS_AF,ALMS1
448564,2:73740367:G>C,NM_015120.4:c.9537-6535G>C,\N,\N,10/22,Benign,\N,intron_variant,9.508,0.1399,1KG_AFR_AF,ALMS1
448565,2:73740374:T>A,NM_015120.4:c.9537-6528T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,11.38,\N,\N,ALMS1
448566,2:73740384:G>A,NM_015120.4:c.9537-6518G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,6.105,0.0014,1KG_AMR_AF,ALMS1
448567,2:73740392:C>T,NM_015120.4:c.9537-6510C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.073,0.003,1KG_AFR_AF,ALMS1
448568,2:73740405:G>T,NM_015120.4:c.9537-6497G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,0.69,0.001,1KG_SAS_AF,ALMS1
448569,2:73740425:G>A,NM_015120.4:c.9537-6477G>A,\N,\N,10/22,Benign,\N,intron_variant,3.212,0.975,1KG_AFR_AF,ALMS1
448570,2:73740431:A>C,NM_015120.4:c.9537-6471A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,3.31,0.003,1KG_AFR_AF,ALMS1
448571,2:73740448:C>T,NM_015120.4:c.9537-6454C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.297,0.003,1KG_AFR_AF,ALMS1
448572,2:73740453:G>T,NM_015120.4:c.9537-6449G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,2.612,0.0014,1KG_AMR_AF,ALMS1
448573,2:73740466:A>T,NM_015120.4:c.9537-6436A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.939,\N,\N,ALMS1
448574,2:73740467:T>C,NM_015120.4:c.9537-6435T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,8.396,0.0014,1KG_AMR_AF,ALMS1
448575,2:73740496:T>C,NM_015120.4:c.9537-6406T>C,\N,\N,10/22,Unknown significance,\N,intron_variant,9.067,0.001,1KG_SAS_AF,ALMS1
448576,2:73740529:T>A,NM_015120.4:c.9537-6373T>A,\N,\N,10/22,Unknown significance,\N,intron_variant,12.04,0.0008,1KG_AFR_AF,ALMS1
448577,2:73740548:A>T,NM_015120.4:c.9537-6354A>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.375,\N,\N,ALMS1
448578,2:73740550:G>T,NM_015120.4:c.9537-6352G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.58,0.001,1KG_SAS_AF,ALMS1
448579,2:73740551:C>G,NM_015120.4:c.9537-6351C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,0.923,\N,\N,ALMS1
448580,2:73740591:C>T,NM_015120.4:c.9537-6311C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,3.196,0.001,1KG_SAS_AF,ALMS1
448581,2:73740650:C>T,NM_015120.4:c.9537-6252C>T,\N,\N,10/22,Benign,\N,intron_variant,6.75,0.0083,1KG_AFR_AF,ALMS1
448582,2:73740652:C>T,NM_015120.4:c.9537-6250C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,4.042,0.002,1KG_EUR_AF,ALMS1
448583,2:73740675:A>G,NM_015120.4:c.9537-6227A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,11.8,\N,\N,ALMS1
448584,2:73740678:C>A,NM_015120.4:c.9537-6224C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,10.59,\N,\N,ALMS1
448585,2:73740691:G>A,NM_015120.4:c.9537-6211G>A,\N,\N,10/22,Benign,\N,intron_variant,9.544,0.0719,1KG_AFR_AF,ALMS1
448586,2:73740729:C>G,NM_015120.4:c.9537-6173C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,2.398,\N,\N,ALMS1
448587,2:73740739:CTA>C,NM_015120.4:c.9537-6161_9537-6160del,\N,\N,10/22,Unknown significance,\N,intron_variant,\N,\N,\N,ALMS1
448588,2:73740751:G>T,NM_015120.4:c.9537-6151G>T,\N,\N,10/22,Unknown significance,\N,intron_variant,1.897,0.003,1KG_EUR_AF,ALMS1
448589,2:73740785:C>T,NM_015120.4:c.9537-6117C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,5.179,0.004,1KG_EAS_AF,ALMS1
448590,2:73740795:G>A,NM_015120.4:c.9537-6107G>A,\N,\N,10/22,Unknown significance,\N,intron_variant,5.808,\N,\N,ALMS1
448591,2:73740824:A>C,NM_015120.4:c.9537-6078A>C,\N,\N,10/22,Unknown significance,\N,intron_variant,7.815,\N,\N,ALMS1
448592,2:73740852:C>G,NM_015120.4:c.9537-6050C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,1.35,\N,\N,ALMS1
448593,2:73740930:A>G,NM_015120.4:c.9537-5972A>G,\N,\N,10/22,Benign,\N,intron_variant,3.462,0.0061,1KG_SAS_AF,ALMS1
448594,2:73740946:C>G,NM_015120.4:c.9537-5956C>G,\N,\N,10/22,Unknown significance,\N,intron_variant,8.203,\N,\N,ALMS1
448595,2:73740972:C>T,NM_015120.4:c.9537-5930C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,9.673,\N,\N,ALMS1
448596,2:73740978:C>T,NM_015120.4:c.9537-5924C>T,\N,\N,10/22,Unknown significance,\N,intron_variant,8.978,\N,\N,ALMS1
448597,2:73740984:T>C,NM_015120.4:c.9537-5918T>C,\N,\N,10/22,Benign,\N,intron_variant,9.018,0.0239,1KG_EUR_AF,ALMS1
448598,2:73740995:A>G,NM_015120.4:c.9537-5907A>G,\N,\N,10/22,Unknown significance,\N,intron_variant,9.749,0.0008,1KG_AFR_AF,ALMS1
448599,2:73741005:C>A,NM_015120.4:c.9537-5897C>A,\N,\N,10/22,Unknown significance,\N,intron_variant,10.19,0.0045,1KG_AFR_AF,ALMS1
448600,2:73741022:T>C,NM_015120.4:c.9537-5880T>