id,variation,pos,vep_feature,vep_hgvs_c,vep_hgvs_p,vep_protein_pos,vep_exon,vep_intron,final_pathogenicity,final_disease,vep_consequence,vep_impact,dbnsfp_interpro_domain,vep_motif_name,vep_cadd_phred,overall_max_maf,overall_max_maf_source,gene
434335,2:55861208:A>G,55861208,NM_033109.4,NM_033109.4:c.*2164T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.854,0.0014,1KG_AMR_AF,PNPT1
434336,2:55861273:C>T,55861273,NM_033109.4,NM_033109.4:c.*2099G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,14.64,\N,\N,PNPT1
434337,2:55861281:C>G,55861281,NM_033109.4,NM_033109.4:c.*2091G>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.597,0.0008,1KG_AFR_AF,PNPT1
434338,2:55861328:A>G,55861328,NM_033109.4,NM_033109.4:c.*2044T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,14.9,0.0014,1KG_AMR_AF,PNPT1
434339,2:55861387:G>A,55861387,NM_033109.4,NM_033109.4:c.*1985C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.683,\N,\N,PNPT1
434340,2:55861410:T>C,55861410,NM_033109.4,NM_033109.4:c.*1962A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.391,\N,\N,PNPT1
434341,2:55861412:C>T,55861412,NM_033109.4,NM_033109.4:c.*1960G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.92,\N,\N,PNPT1
434342,2:55861419:C>T,55861419,NM_033109.4,NM_033109.4:c.*1953G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.999,0.001,1KG_EUR_AF,PNPT1
434343,2:55861435:C>T,55861435,NM_033109.4,NM_033109.4:c.*1937G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.867,0.003,1KG_EUR_AF,PNPT1
434344,2:55861453:A>G,55861453,NM_033109.4,NM_033109.4:c.*1919T>C,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.173,0.0219,1KG_AFR_AF,PNPT1
434345,2:55861459:C>T,55861459,NM_033109.4,NM_033109.4:c.*1913G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.101,\N,\N,PNPT1
434346,2:55861466:G>A,55861466,NM_033109.4,NM_033109.4:c.*1906C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.03,0.001,1KG_SAS_AF,PNPT1
434347,2:55861478:C>T,55861478,NM_033109.4,NM_033109.4:c.*1894G>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.472,0.0855,1KG_EUR_AF,PNPT1
434348,2:55861490:A>G,55861490,NM_033109.4,NM_033109.4:c.*1882T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.669,\N,\N,PNPT1
434349,2:55861502:T>G,55861502,NM_033109.4,NM_033109.4:c.*1870A>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.494,0.001,1KG_EAS_AF,PNPT1
434350,2:55861514:A>G,55861514,NM_033109.4,NM_033109.4:c.*1858T>C,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.146,0.0068,1KG_AFR_AF,PNPT1
434351,2:55861522:G>A,55861522,NM_033109.4,NM_033109.4:c.*1850C>T,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.724,0.0298,1KG_EUR_AF,PNPT1
434352,2:55861542:G>T,55861542,NM_033109.4,NM_033109.4:c.*1830C>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.061,0.0014,1KG_AMR_AF,PNPT1
434353,2:55861597:G>A,55861597,NM_033109.4,NM_033109.4:c.*1775C>T,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.605,0.0198,1KG_EAS_AF,PNPT1
434354,2:55861627:C>T,55861627,NM_033109.4,NM_033109.4:c.*1745G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.635,\N,\N,PNPT1
434355,2:55861632:T>C,55861632,NM_033109.4,NM_033109.4:c.*1740A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.526,\N,\N,PNPT1
434356,2:55861632:T>G,55861632,NM_033109.4,NM_033109.4:c.*1740A>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.963,0.001,1KG_EAS_AF|1KG_SAS_AF,PNPT1
434357,2:55861641:C>T,55861641,NM_033109.4,NM_033109.4:c.*1731G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.161,0.0008,1KG_AFR_AF,PNPT1
434358,2:55861643:C>A,55861643,NM_033109.4,NM_033109.4:c.*1729G>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.879,0.001,1KG_SAS_AF,PNPT1
434359,2:55861645:C>T,55861645,NM_033109.4,NM_033109.4:c.*1727G>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.247,0.3562,1KG_EAS_AF,PNPT1
434360,2:55861648:C>T,55861648,NM_033109.4,NM_033109.4:c.*1724G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.793,0.0008,1KG_AFR_AF,PNPT1
434361,2:55861693:A>G,55861693,NM_033109.4,NM_033109.4:c.*1679T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.795,0.0008,1KG_AFR_AF,PNPT1
434362,2:55861695:C>CT,55861695,NM_033109.4,NM_033109.4:c.*1676_*1677insA,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434363,2:55861695:CA>C,55861695,NM_033109.4,NM_033109.4:c.*1676del,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.081,\N,\N,PNPT1
434364,2:55861696:A>T,55861696,NM_033109.4,NM_033109.4:c.*1676T>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.062,0.1421,1KG_SAS_AF,PNPT1
434365,2:55861737:C>T,55861737,NM_033109.4,NM_033109.4:c.*1635G>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.844,0.0068,1KG_AFR_AF,PNPT1
434366,2:55861750:G>A,55861750,NM_033109.4,NM_033109.4:c.*1622C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.787,\N,\N,PNPT1
434367,2:55861753:C>T,55861753,NM_033109.4,NM_033109.4:c.*1619G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.045,0.003,1KG_EAS_AF,PNPT1
434368,2:55861754:G>A,55861754,NM_033109.4,NM_033109.4:c.*1618C>T,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.385,0.0184,1KG_SAS_AF,PNPT1
434369,2:55861793:A>G,55861793,NM_033109.4,NM_033109.4:c.*1579T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.076,0.0008,1KG_AFR_AF,PNPT1
434370,2:55861800:C>T,55861800,NM_033109.4,NM_033109.4:c.*1572G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.541,0.001,1KG_SAS_AF,PNPT1
434371,2:55861836:G>T,55861836,NM_033109.4,NM_033109.4:c.*1536C>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.036,\N,\N,PNPT1
434372,2:55861840:G>A,55861840,NM_033109.4,NM_033109.4:c.*1532C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.308,0.001,1KG_SAS_AF,PNPT1
434373,2:55861928:T>G,55861928,NM_033109.4,NM_033109.4:c.*1444A>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.631,0.0015,1KG_AFR_AF,PNPT1
434374,2:55861931:T>C,55861931,NM_033109.4,NM_033109.4:c.*1441A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.769,0.001,1KG_EUR_AF,PNPT1
434375,2:55861937:C>T,55861937,NM_033109.4,NM_033109.4:c.*1435G>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.077,0.0716,1KG_SAS_AF,PNPT1
434376,2:55861940:C>T,55861940,NM_033109.4,NM_033109.4:c.*1432G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.619,0.002,1KG_SAS_AF,PNPT1
434377,2:55861988:G>T,55861988,NM_033109.4,NM_033109.4:c.*1384C>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.339,\N,\N,PNPT1
434378,2:55861996:T>C,55861996,NM_033109.4,NM_033109.4:c.*1376A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.093,\N,\N,PNPT1
434379,2:55862045:G>A,55862045,NM_033109.4,NM_033109.4:c.*1327C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.168,\N,\N,PNPT1
434380,2:55862066:T>C,55862066,NM_033109.4,NM_033109.4:c.*1306A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.687,0.001,1KG_SAS_AF,PNPT1
434381,2:55862109:C>T,55862109,NM_033109.4,NM_033109.4:c.*1263G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.832,\N,\N,PNPT1
434382,2:55862110:G>A,55862110,NM_033109.4,NM_033109.4:c.*1262C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.174,\N,\N,PNPT1
434383,2:55862145:C>T,55862145,NM_033109.4,NM_033109.4:c.*1227G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.719,\N,\N,PNPT1
434384,2:55862174:A>G,55862174,NM_033109.4,NM_033109.4:c.*1198T>C,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.662,0.0079,1KG_EAS_AF,PNPT1
434385,2:55862188:T>A,55862188,NM_033109.4,NM_033109.4:c.*1184A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.711,\N,\N,PNPT1
434386,2:55862198:T>C,55862198,NM_033109.4,NM_033109.4:c.*1174A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.227,\N,\N,PNPT1
434387,2:55862213:G>C,55862213,NM_033109.4,NM_033109.4:c.*1159C>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.983,\N,\N,PNPT1
434388,2:55862219:A>G,55862219,NM_033109.4,NM_033109.4:c.*1153T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.69,0.0008,1KG_AFR_AF,PNPT1
434389,2:55862232:T>C,55862232,NM_033109.4,NM_033109.4:c.*1140A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.066,\N,\N,PNPT1
434390,2:55862241:C>T,55862241,NM_033109.4,NM_033109.4:c.*1131G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.543,0.001,1KG_EUR_AF,PNPT1
434391,2:55862262:G>A,55862262,NM_033109.4,NM_033109.4:c.*1110C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.242,0.0008,1KG_AFR_AF,PNPT1
434392,2:55862271:G>A,55862271,NM_033109.4,NM_033109.4:c.*1101C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.175,0.001,1KG_EAS_AF,PNPT1
434393,2:55862272:G>A,55862272,NM_033109.4,NM_033109.4:c.*1100C>T,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.42,0.0099,1KG_EAS_AF,PNPT1
434394,2:55862311:G>A,55862311,NM_033109.4,NM_033109.4:c.*1061C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.044,\N,\N,PNPT1
434395,2:55862322:C>T,55862322,NM_033109.4,NM_033109.4:c.*1050G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.501,0.001,1KG_SAS_AF,PNPT1
434396,2:55862354:G>A,55862354,NM_033109.4,NM_033109.4:c.*1018C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.077,\N,\N,PNPT1
434397,2:55862355:A>T,55862355,NM_033109.4,NM_033109.4:c.*1017T>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.976,0.3994,1KG_AFR_AF,PNPT1
434398,2:55862371:A>G,55862371,NM_033109.4,NM_033109.4:c.*1001T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.779,\N,\N,PNPT1
434399,2:55862378:A>C,55862378,NM_033109.4,NM_033109.4:c.*994T>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.259,0.004,1KG_EAS_AF,PNPT1
434400,2:55862433:A>G,55862433,NM_033109.4,NM_033109.4:c.*939T>C,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.734,0.0169,1KG_EAS_AF,PNPT1
434401,2:55862440:T>C,55862440,NM_033109.4,NM_033109.4:c.*932A>G,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.993,0.9932,1KG_AFR_AF,PNPT1
434402,2:55862450:AT>A,55862450,NM_033109.4,NM_033109.4:c.*921del,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.482,0.8828,1KG_AFR_AF,PNPT1
434403,2:55862456:T>A,55862456,NM_033109.4,NM_033109.4:c.*916A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.58,0.0014,1KG_AMR_AF,PNPT1
434404,2:55862467:G>T,55862467,NM_033109.4,NM_033109.4:c.*905C>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.379,\N,\N,PNPT1
434405,2:55862471:C>T,55862471,NM_033109.4,NM_033109.4:c.*901G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.416,0.0045,1KG_AFR_AF,PNPT1
434406,2:55862472:G>A,55862472,NM_033109.4,NM_033109.4:c.*900C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.35,\N,\N,PNPT1
434407,2:55862472:G>C,55862472,NM_033109.4,NM_033109.4:c.*900C>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.047,\N,\N,PNPT1
434408,2:55862473:G>T,55862473,NM_033109.4,NM_033109.4:c.*899C>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.347,\N,\N,PNPT1
434409,2:55862483:C>G,55862483,NM_033109.4,NM_033109.4:c.*889G>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.092,\N,\N,PNPT1
434410,2:55862518:C>T,55862518,NM_033109.4,NM_033109.4:c.*854G>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.779,0.0757,1KG_SAS_AF,PNPT1
434411,2:55862556:T>C,55862556,NM_033109.4,NM_033109.4:c.*816A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.857,0.0008,1KG_AFR_AF,PNPT1
434412,2:55862559:T>C,55862559,NM_033109.4,NM_033109.4:c.*813A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.595,\N,\N,PNPT1
434413,2:55862577:G>A,55862577,NM_033109.4,NM_033109.4:c.*795C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.974,\N,\N,PNPT1
434414,2:55862590:C>T,55862590,NM_033109.4,NM_033109.4:c.*782G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.464,0.0008,1KG_AFR_AF,PNPT1
434415,2:55862596:T>C,55862596,NM_033109.4,NM_033109.4:c.*776A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.313,\N,\N,PNPT1
434416,2:55862597:G>A,55862597,NM_033109.4,NM_033109.4:c.*775C>T,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.372,0.0144,1KG_AFR_AF,PNPT1
434417,2:55862598:C>T,55862598,NM_033109.4,NM_033109.4:c.*774G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.129,\N,\N,PNPT1
434418,2:55862610:C>T,55862610,NM_033109.4,NM_033109.4:c.*762G>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.377,0.005,1KG_EAS_AF,PNPT1
434419,2:55862617:T>C,55862617,NM_033109.4,NM_033109.4:c.*755A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.554,0.001,1KG_EUR_AF,PNPT1
434420,2:55862625:C>G,55862625,NM_033109.4,NM_033109.4:c.*747G>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.099,0.001,1KG_EAS_AF,PNPT1
434421,2:55862631:G>A,55862631,NM_033109.4,NM_033109.4:c.*741C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.519,\N,\N,PNPT1
434422,2:55862639:G>A,55862639,NM_033109.4,NM_033109.4:c.*733C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.766,\N,\N,PNPT1
434423,2:55862664:G>A,55862664,NM_033109.4,NM_033109.4:c.*708C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.771,0.001,1KG_SAS_AF,PNPT1
434424,2:55862680:T>C,55862680,NM_033109.4,NM_033109.4:c.*692A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.465,0.001,1KG_SAS_AF,PNPT1
434425,2:55862719:T>C,55862719,NM_033109.4,NM_033109.4:c.*653A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.593,0.001,1KG_EAS_AF,PNPT1
434426,2:55862741:A>G,55862741,NM_033109.4,NM_033109.4:c.*631T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.346,0.0008,1KG_AFR_AF,PNPT1
434427,2:55862771:A>T,55862771,NM_033109.4,NM_033109.4:c.*601T>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,10.29,0.0008,1KG_AFR_AF,PNPT1
434428,2:55862775:C>A,55862775,NM_033109.4,NM_033109.4:c.*597G>T,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,7.874,0.5368,1KG_EUR_AF,PNPT1
434429,2:55862801:T>C,55862801,NM_033109.4,NM_033109.4:c.*571A>G,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.075,0.034,1KG_AFR_AF,PNPT1
434430,2:55862804:T>A,55862804,NM_033109.4,NM_033109.4:c.*568A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,7.531,\N,\N,PNPT1
434431,2:55862804:T>TTTGGTAA,55862804,NM_033109.4,NM_033109.4:c.*561_*567dup,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.133,0.407,1KG_SAS_AF,PNPT1
434432,2:55862805:T>TTTGGTAA,55862805,NM_033109.4,NM_033109.4:c.*566_*567insTTACCAA,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434433,2:55862811:A>C,55862811,NM_033109.4,NM_033109.4:c.*561T>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.698,0.0008,1KG_AFR_AF,PNPT1
434434,2:55862824:G>C,55862824,NM_033109.4,NM_033109.4:c.*548C>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.328,\N,\N,PNPT1
434435,2:55862847:C>A,55862847,NM_033109.4,NM_033109.4:c.*525G>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.142,0.001,1KG_EAS_AF,PNPT1
434436,2:55862861:C>T,55862861,NM_033109.4,NM_033109.4:c.*511G>A,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.552,0.0189,1KG_AFR_AF,PNPT1
434437,2:55862862:A>G,55862862,NM_033109.4,NM_033109.4:c.*510T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.454,0.001,1KG_SAS_AF,PNPT1
434438,2:55862873:T>A,55862873,NM_033109.4,NM_033109.4:c.*499A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,6.925,0.0008,1KG_AFR_AF,PNPT1
434439,2:55862936:C>T,55862936,NM_033109.4,NM_033109.4:c.*436G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.128,0.001,1KG_SAS_AF,PNPT1
434440,2:55862944:G>C,55862944,NM_033109.4,NM_033109.4:c.*428C>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.096,0.002,1KG_EAS_AF,PNPT1
434441,2:55862961:G>A,55862961,NM_033109.4,NM_033109.4:c.*411C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.39,0.0014,1KG_AMR_AF,PNPT1
434442,2:55863031:G>A,55863031,NM_033109.4,NM_033109.4:c.*341C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,10.57,0.0008,1KG_AFR_AF,PNPT1
434443,2:55863054:A>C,55863054,NM_033109.4,NM_033109.4:c.*318T>G,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.566,0.005,1KG_EAS_AF,PNPT1
434444,2:55863062:C>T,55863062,NM_033109.4,NM_033109.4:c.*310G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.487,0.0038,1KG_AFR_AF,PNPT1
434445,2:55863066:TTCTA>T,55863066,NM_033109.4,NM_033109.4:c.*302_*305del,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,9.759,0.407,1KG_SAS_AF,PNPT1
434446,2:55863073:T>A,55863073,NM_033109.4,NM_033109.4:c.*299A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,9.411,\N,\N,PNPT1
434447,2:55863105:C>A,55863105,NM_033109.4,NM_033109.4:c.*267G>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.93,\N,\N,PNPT1
434448,2:55863107:A>C,55863107,NM_033109.4,NM_033109.4:c.*265T>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.023,\N,\N,PNPT1
434449,2:55863110:C>A,55863110,NM_033109.4,NM_033109.4:c.*262G>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.156,\N,\N,PNPT1
434450,2:55863110:C>CTA,55863110,NM_033109.4,NM_033109.4:c.*260_*261dup,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434451,2:55863110:CTA>C,55863110,NM_033109.4,NM_033109.4:c.*260_*261del,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.72,0.407,1KG_SAS_AF,PNPT1
434452,2:55863110:CTATG>C,55863110,NM_033109.4,NM_033109.4:c.*258_*261del,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.883,0.005,1KG_EAS_AF,PNPT1
434453,2:55863111:T>A,55863111,NM_033109.4,NM_033109.4:c.*261A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.869,\N,\N,PNPT1
434454,2:55863112:A>C,55863112,NM_033109.4,NM_033109.4:c.*260T>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.206,\N,\N,PNPT1
434455,2:55863112:A>G,55863112,NM_033109.4,NM_033109.4:c.*260T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.725,\N,\N,PNPT1
434456,2:55863114:G>A,55863114,NM_033109.4,NM_033109.4:c.*258C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.537,\N,\N,PNPT1
434457,2:55863115:T>A,55863115,NM_033109.4,NM_033109.4:c.*257A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.524,\N,\N,PNPT1
434458,2:55863131:G>A,55863131,NM_033109.4,NM_033109.4:c.*241C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.479,0.001,1KG_EUR_AF,PNPT1
434459,2:55863139:GACTT>G,55863139,NM_033109.4,NM_033109.4:c.*229_*232del,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.873,0.0089,1KG_EAS_AF,PNPT1
434460,2:55863152:TAATA>T,55863152,NM_033109.4,NM_033109.4:c.*216_*219del,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434461,2:55863213:A>T,55863213,NM_033109.4,NM_033109.4:c.*159T>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.042,0.002,1KG_SAS_AF,PNPT1
434462,2:55863216:A>C,55863216,NM_033109.4,NM_033109.4:c.*156T>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,6.634,0.0008,1KG_AFR_AF,PNPT1
434463,2:55863234:G>A,55863234,NM_033109.4,NM_033109.4:c.*138C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,11.86,0.001,1KG_EAS_AF,PNPT1
434464,2:55863275:T>C,55863275,NM_033109.4,NM_033109.4:c.*97A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,9.176,0.0015,1KG_AFR_AF,PNPT1
434465,2:55863294:A>G,55863294,NM_033109.4,NM_033109.4:c.*78T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.781,\N,\N,PNPT1
434466,2:55863301:A>G,55863301,NM_033109.4,NM_033109.4:c.*71T>C,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.183,0.0953,1KG_AFR_AF,PNPT1
434467,2:55863313:C>G,55863313,NM_033109.4,NM_033109.4:c.*59G>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.049,\N,\N,PNPT1
434468,2:55863318:C>T,55863318,NM_033109.4,NM_033109.4:c.*54G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.573,0.001,1KG_SAS_AF,PNPT1
434469,2:55863323:C>T,55863323,NM_033109.4,NM_033109.4:c.*49G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.637,0.000020331,EXAC_NFE_AF,PNPT1
434470,2:55863324:A>G,55863324,NM_033109.4,NM_033109.4:c.*48T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,4.406,\N,\N,PNPT1
434471,2:55863328:C>T,55863328,NM_033109.4,NM_033109.4:c.*44G>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,5.973,0.0000202331,EXAC_NFE_AF,PNPT1
434472,2:55863332:A>G,55863332,NM_033109.4,NM_033109.4:c.*40T>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,0.614,0.000456413,EXAC_AMR_AF,PNPT1
434473,2:55863340:T>C,55863340,NM_033109.4,NM_033109.4:c.*32A>G,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,10.64,0.00102646,EXAC_AMR_AF,PNPT1
434474,2:55863341:A>T,55863341,NM_033109.4,NM_033109.4:c.*31T>A,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,9.884,0.000148832,EXAC_SAS_AF,PNPT1
434475,2:55863350:G>A,55863350,NM_033109.4,NM_033109.4:c.*22C>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,14.52,0.0000209118,EXAC_NFE_AF,PNPT1
434476,2:55863356:T>A,55863356,NM_033109.4,NM_033109.4:c.*16A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,12.58,0.0000228739,EXAC_NFE_AF,PNPT1
434477,2:55863357:C>G,55863357,NM_033109.4,NM_033109.4:c.*15G>C,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,10.92,0.000120366,EXAC_AMR_AF,PNPT1
434478,2:55863359:T>TA,55863359,NM_033109.4,NM_033109.4:c.*12_*13insT,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,8.467,\N,\N,PNPT1
434479,2:55863360:T>TA,55863360,NM_033109.4,NM_033109.4:c.*11dup,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,8.197,0.554446,EXAC_FIN_AF,PNPT1
434480,2:55863360:T>TAA,55863360,NM_033109.4,NM_033109.4:c.*10_*11dup,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,8.085,0.00705219,EXAC_SAS_AF,PNPT1
434481,2:55863360:TA>T,55863360,NM_033109.4,NM_033109.4:c.*11del,\N,\N,28/28,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,9.936,0.12801,EXAC_EAS_AF,PNPT1
434482,2:55863360:TAA>T,55863360,NM_033109.4,NM_033109.4:c.*10_*11del,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,10.05,0.000264457,EXAC_SAS_AF,PNPT1
434483,2:55863360:T>A,55863360,NM_033109.4,NM_033109.4:c.*12A>T,\N,\N,28/28,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,8.021,0.000264457,EXAC_SAS_AF,PNPT1
434484,2:55863384:A>T,55863384,NM_033109.4,NM_033109.4:c.2340T>A,NP_149100.2:p.Ser780=,780,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.275,0.000152393,EXAC_FIN_AF,PNPT1
434485,2:55863388:G>A,55863388,NM_033109.4,NM_033109.4:c.2336C>T,NP_149100.2:p.Ser779Leu,779,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,25.8,0.000152207,EXAC_FIN_AF,PNPT1
434486,2:55863389:A>G,55863389,NM_033109.4,NM_033109.4:c.2335T>C,NP_149100.2:p.Ser779Pro,779,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24.5,0.000912686,EXAC_FIN_AF,PNPT1
434487,2:55863390:T>C,55863390,NM_033109.4,NM_033109.4:c.2334A>G,NP_149100.2:p.Ser778=,778,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.512,0.0000304525,EXAC_NFE_AF,PNPT1
434488,2:55863397:G>GAAAT,55863397,NM_033109.4,NM_033109.4:c.2323_2326dup,NP_149100.2:p.Ser776TyrfsTer7,776,28/28,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,35,0.000015193,EXAC_NFE_AF,PNPT1
434489,2:55863403:G>A,55863403,NM_033109.4,NM_033109.4:c.2321C>T,NP_149100.2:p.Pro774Leu,774,28/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,20.9,0.0000873668,EXAC_AMR_AF,PNPT1
434490,2:55863409:C>T,55863409,NM_033109.4,NM_033109.4:c.2315G>A,NP_149100.2:p.Gly772Glu,772,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.2,0.0000151419,EXAC_NFE_AF,PNPT1
434491,2:55863418:A>G,55863418,NM_033109.4,NM_033109.4:c.2306T>C,NP_149100.2:p.Ile769Thr,769,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24.6,0.000151607,EXAC_FIN_AF,PNPT1
434492,2:55863421:C>A,55863421,NM_033109.4,NM_033109.4:c.2303G>T,NP_149100.2:p.Ser768Ile,768,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,26.1,0.0014,1KG_AMR_AF,PNPT1
434493,2:55863423:A>G,55863423,NM_033109.4,NM_033109.4:c.2301T>C,NP_149100.2:p.Ser767=,767,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.76,0.000116279,EVS_EA_AF,PNPT1
434494,2:55863423:ACTT>A,55863423,NM_033109.4,NM_033109.4:c.2298_2300del,NP_149100.2:p.Arg766del,766-767,28/28,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,17.13,0.0000871232,EXAC_AMR_AF,PNPT1
434495,2:55863431:C>T,55863431,NM_033109.4,NM_033109.4:c.2293G>A,NP_149100.2:p.Asp765Asn,765,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,33,0.001,1KG_EUR_AF,PNPT1
434496,2:55863433:T>A,55863433,NM_033109.4,NM_033109.4:c.2291A>T,NP_149100.2:p.Asn764Ile,764,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.4,0.000116279,EVS_EA_AF,PNPT1
434497,2:55863436:A>G,55863436,NM_033109.4,NM_033109.4:c.2288T>C,NP_149100.2:p.Leu763Ser,763,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24.9,0.0000967492,EXAC_AFR_AF,PNPT1
434498,2:55863449:C>A,55863449,NM_033109.4,NM_033109.4:c.2275G>T,NP_149100.2:p.Val759Leu,759,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24.3,0.0000150575,EXAC_NFE_AF,PNPT1
434499,2:55863449:C>T,55863449,NM_033109.4,NM_033109.4:c.2275G>A,NP_149100.2:p.Val759Met,759,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.9,0.000226963,EVS_AA_AF,PNPT1
434500,2:55863450:G>A,55863450,NM_033109.4,NM_033109.4:c.2274C>T,NP_149100.2:p.Thr758=,758,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,16.61,0.0000609607,EXAC_SAS_AF,PNPT1
434501,2:55863463:G>A,55863463,NM_033109.4,NM_033109.4:c.2261C>T,NP_149100.2:p.Ser754Leu,754,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24.8,0.000366032,EXAC_SAS_AF,PNPT1
434502,2:55863466:T>TGAA,55863466,NM_033109.4,NM_033109.4:c.2255_2257dup,NP_149100.2:p.Leu752dup,753,28/28,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,23,0.0000609682,EXAC_SAS_AF,PNPT1
434503,2:55863471:C>T,55863471,NM_033109.4,NM_033109.4:c.2253G>A,NP_149100.2:p.Val751=,751,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,17.5,0.000435996,EXAC_AMR_AF,PNPT1
434504,2:55863477:T>C,55863477,NM_033109.4,NM_033109.4:c.2247A>G,NP_149100.2:p.Arg749=,749,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.151,0.0000452148,EXAC_NFE_AF,PNPT1
434505,2:55863491:T>C,55863491,NM_033109.4,NM_033109.4:c.2233A>G,NP_149100.2:p.Met745Val,745,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,17.44,0.0000151076,EXAC_NFE_AF,PNPT1
434506,2:55863494:T>C,55863494,NM_033109.4,NM_033109.4:c.2230A>G,NP_149100.2:p.Arg744Gly,744,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,22.9,0.000183441,EXAC_SAS_AF,PNPT1
434507,2:55863498:A>G,55863498,NM_033109.4,NM_033109.4:c.2226T>C,NP_149100.2:p.Asp742=,742,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.69,0.000226963,EVS_AA_AF,PNPT1
434508,2:55863500:C>T,55863500,NM_033109.4,NM_033109.4:c.2224G>A,NP_149100.2:p.Asp742Asn,742,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,24.2,0.0015,1KG_AFR_AF,PNPT1
434509,2:55863501:G>A,55863501,NM_033109.4,NM_033109.4:c.2223C>T,NP_149100.2:p.Ala741=,741,28/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,15.18,0.000264831,EXAC_AMR_AF,PNPT1
434510,2:55863508:T>G,55863508,NM_033109.4,NM_033109.4:c.2216A>C,NP_149100.2:p.Asp739Ala,739,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,33,\N,\N,PNPT1
434511,2:55863511:C>T,55863511,NM_033109.4,NM_033109.4:c.2213G>A,NP_149100.2:p.Arg738His,738,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,35,0.0041,1KG_SAS_AF,PNPT1
434512,2:55863517:A>T,55863517,NM_033109.4,NM_033109.4:c.2207T>A,NP_149100.2:p.Phe736Tyr,736,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,32,0.000226963,EVS_AA_AF,PNPT1
434513,2:55863523:T>C,55863523,NM_033109.4,NM_033109.4:c.2201A>G,NP_149100.2:p.Lys734Arg,734,28/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,31,\N,\N,PNPT1
434514,2:55863531:T>C,55863531,NM_033109.4,NM_033109.4:c.2197-4A>G,\N,\N,\N,27/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,13.05,0.0000626566,EXAC_SAS_AF,PNPT1
434515,2:55863542:CAG>C,55863542,NM_033109.4,NM_033109.4:c.2197-17_2197-16del,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.53,\N,\N,PNPT1
434516,2:55863545:A>C,55863545,NM_033109.4,NM_033109.4:c.2197-18T>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.8,0.0000158328,EXAC_NFE_AF,PNPT1
434517,2:55863550:C>T,55863550,NM_033109.4,NM_033109.4:c.2197-23G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.989,0.0000159119,EXAC_NFE_AF,PNPT1
434518,2:55863556:A>C,55863556,NM_033109.4,NM_033109.4:c.2197-29T>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.604,0.00306448,EXAC_EAS_AF,PNPT1
434519,2:55863561:A>G,55863561,NM_033109.4,NM_033109.4:c.2197-34T>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.202,0.0000160886,EXAC_NFE_AF,PNPT1
434520,2:55863562:C>G,55863562,NM_033109.4,NM_033109.4:c.2197-35G>C,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.935,0.0106,1KG_AFR_AF,PNPT1
434521,2:55863568:A>AGCGTGCAAAAATGTAAGGGGGCCTC,55863568,NM_033109.4,NM_033109.4:c.2197-42_2197-41insGAGGCCCCCTTACATTTTTGCACGC,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.263,\N,\N,PNPT1
434522,2:55863569:T>C,55863569,NM_033109.4,NM_033109.4:c.2197-42A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.241,0.0000164301,EXAC_NFE_AF,PNPT1
434523,2:55863570:T>C,55863570,NM_033109.4,NM_033109.4:c.2197-43A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.096,0.0000975229,EXAC_AMR_AF,PNPT1
434524,2:55863571:G>T,55863571,NM_033109.4,NM_033109.4:c.2197-44C>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.455,0.0000165273,EXAC_NFE_AF,PNPT1
434525,2:55863575:G>A,55863575,NM_033109.4,NM_033109.4:c.2197-48C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.292,\N,\N,PNPT1
434526,2:55863589:T>C,55863589,NM_033109.4,NM_033109.4:c.2197-62A>G,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.879,0.0149,1KG_EUR_AF,PNPT1
434527,2:55863593:C>T,55863593,NM_033109.4,NM_033109.4:c.2197-66G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.88,0.001,1KG_EUR_AF,PNPT1
434528,2:55863605:C>T,55863605,NM_033109.4,NM_033109.4:c.2197-78G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.739,\N,\N,PNPT1
434529,2:55863644:C>A,55863644,NM_033109.4,NM_033109.4:c.2197-117G>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.416,\N,\N,PNPT1
434530,2:55863652:A>G,55863652,NM_033109.4,NM_033109.4:c.2197-125T>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.576,0.001,1KG_EUR_AF|1KG_SAS_AF,PNPT1
434531,2:55863709:G>A,55863709,NM_033109.4,NM_033109.4:c.2197-182C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.11,\N,\N,PNPT1
434532,2:55863724:G>A,55863724,NM_033109.4,NM_033109.4:c.2197-197C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.633,\N,\N,PNPT1
434533,2:55863730:A>T,55863730,NM_033109.4,NM_033109.4:c.2197-203T>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.95,0.0008,1KG_AFR_AF,PNPT1
434534,2:55863734:G>C,55863734,NM_033109.4,NM_033109.4:c.2197-207C>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.652,0.001,1KG_EUR_AF,PNPT1
434535,2:55863751:C>T,55863751,NM_033109.4,NM_033109.4:c.2197-224G>A,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.609,0.0112,1KG_SAS_AF,PNPT1
434536,2:55863755:G>A,55863755,NM_033109.4,NM_033109.4:c.2197-228C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.67,0.0014,1KG_AMR_AF,PNPT1
434537,2:55863766:T>G,55863766,NM_033109.4,NM_033109.4:c.2197-239A>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.47,\N,\N,PNPT1
434538,2:55863781:ACCAGGC>A,55863781,NM_033109.4,NM_033109.4:c.2197-260_2197-255del,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434539,2:55863791:G>A,55863791,NM_033109.4,NM_033109.4:c.2197-264C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.85,0.0014,1KG_AMR_AF,PNPT1
434540,2:55863821:T>C,55863821,NM_033109.4,NM_033109.4:c.2197-294A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.562,\N,\N,PNPT1
434541,2:55863827:A>C,55863827,NM_033109.4,NM_033109.4:c.2197-300T>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.592,\N,\N,PNPT1
434542,2:55863841:G>A,55863841,NM_033109.4,NM_033109.4:c.2197-314C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.803,\N,\N,PNPT1
434543,2:55863858:T>C,55863858,NM_033109.4,NM_033109.4:c.2197-331A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.116,\N,\N,PNPT1
434544,2:55863867:A>G,55863867,NM_033109.4,NM_033109.4:c.2197-340T>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.967,0.0008,1KG_AFR_AF,PNPT1
434545,2:55863868:T>C,55863868,NM_033109.4,NM_033109.4:c.2197-341A>G,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.134,0.0716,1KG_SAS_AF,PNPT1
434546,2:55863876:A>C,55863876,NM_033109.4,NM_033109.4:c.2197-349T>G,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.085,0.0476,1KG_AMR_AF,PNPT1
434547,2:55863925:C>T,55863925,NM_033109.4,NM_033109.4:c.2197-398G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.675,\N,\N,PNPT1
434548,2:55863952:T>C,55863952,NM_033109.4,NM_033109.4:c.2197-425A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.838,\N,\N,PNPT1
434549,2:55863977:G>C,55863977,NM_033109.4,NM_033109.4:c.2197-450C>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.276,\N,\N,PNPT1
434550,2:55863985:T>C,55863985,NM_033109.4,NM_033109.4:c.2197-458A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.62,0.001,1KG_EAS_AF,PNPT1
434551,2:55864006:A>AAAC,55864006,NM_033109.4,NM_033109.4:c.2197-482_2197-480dup,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.454,\N,\N,PNPT1
434552,2:55864006:AAACAAC>A,55864006,NM_033109.4,NM_033109.4:c.2197-485_2197-480del,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.332,0.5358,1KG_EUR_AF,PNPT1
434553,2:55864006:AAACAACAAC>A,55864006,NM_033109.4,NM_033109.4:c.2197-488_2197-480del,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.296,0.2034,1KG_EAS_AF,PNPT1
434554,2:55864014:AC>A,55864014,NM_033109.4,NM_033109.4:c.2197-488del,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.465,\N,\N,PNPT1
434555,2:55864026:A>AATAAAC,55864026,NM_033109.4,NM_033109.4:c.2197-500_2197-499insGTTTAT,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434556,2:55864026:A>ACAC,55864026,NM_033109.4,NM_033109.4:c.2197-500_2197-499insGTG,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434557,2:55864051:C>T,55864051,NM_033109.4,NM_033109.4:c.2197-524G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.008,\N,\N,PNPT1
434558,2:55864054:A>T,55864054,NM_033109.4,NM_033109.4:c.2197-527T>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.686,0.001,1KG_EAS_AF,PNPT1
434559,2:55864064:A>G,55864064,NM_033109.4,NM_033109.4:c.2197-537T>C,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.248,0.4085,1KG_AFR_AF,PNPT1
434560,2:55864067:A>G,55864067,NM_033109.4,NM_033109.4:c.2197-540T>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.854,\N,\N,PNPT1
434561,2:55864110:A>T,55864110,NM_033109.4,NM_033109.4:c.2196+577T>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.102,\N,\N,PNPT1
434562,2:55864120:T>C,55864120,NM_033109.4,NM_033109.4:c.2196+567A>G,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.818,0.0051,1KG_SAS_AF,PNPT1
434563,2:55864121:T>TG,55864121,NM_033109.4,NM_033109.4:c.2196+565dup,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434564,2:55864134:G>T,55864134,NM_033109.4,NM_033109.4:c.2196+553C>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.872,0.001,1KG_SAS_AF,PNPT1
434565,2:55864138:C>G,55864138,NM_033109.4,NM_033109.4:c.2196+549G>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.301,\N,\N,PNPT1
434566,2:55864159:G>A,55864159,NM_033109.4,NM_033109.4:c.2196+528C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.957,\N,\N,PNPT1
434567,2:55864215:A>T,55864215,NM_033109.4,NM_033109.4:c.2196+472T>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.878,\N,\N,PNPT1
434568,2:55864227:C>G,55864227,NM_033109.4,NM_033109.4:c.2196+460G>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.205,\N,\N,PNPT1
434569,2:55864294:T>A,55864294,NM_033109.4,NM_033109.4:c.2196+393A>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.377,0.001,1KG_SAS_AF,PNPT1
434570,2:55864322:T>C,55864322,NM_033109.4,NM_033109.4:c.2196+365A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.261,\N,\N,PNPT1
434571,2:55864372:A>G,55864372,NM_033109.4,NM_033109.4:c.2196+315T>C,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.502,0.0716,1KG_SAS_AF,PNPT1
434572,2:55864376:T>G,55864376,NM_033109.4,NM_033109.4:c.2196+311A>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.521,\N,\N,PNPT1
434573,2:55864379:C>G,55864379,NM_033109.4,NM_033109.4:c.2196+308G>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.185,0.0014,1KG_AMR_AF,PNPT1
434574,2:55864395:C>T,55864395,NM_033109.4,NM_033109.4:c.2196+292G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.965,0.0029,1KG_AMR_AF,PNPT1
434575,2:55864396:G>C,55864396,NM_033109.4,NM_033109.4:c.2196+291C>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.157,0.001,1KG_EAS_AF,PNPT1
434576,2:55864403:C>T,55864403,NM_033109.4,NM_033109.4:c.2196+284G>A,\N,\N,\N,27/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.541,0.0333,1KG_AFR_AF,PNPT1
434577,2:55864428:A>G,55864428,NM_033109.4,NM_033109.4:c.2196+259T>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.42,0.001,1KG_EUR_AF,PNPT1
434578,2:55864433:T>C,55864433,NM_033109.4,NM_033109.4:c.2196+254A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.281,0.0008,1KG_AFR_AF,PNPT1
434579,2:55864454:A>C,55864454,NM_033109.4,NM_033109.4:c.2196+233T>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.426,\N,\N,PNPT1
434580,2:55864457:C>T,55864457,NM_033109.4,NM_033109.4:c.2196+230G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.017,0.001,1KG_SAS_AF,PNPT1
434581,2:55864458:G>A,55864458,NM_033109.4,NM_033109.4:c.2196+229C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.059,\N,\N,PNPT1
434582,2:55864461:C>T,55864461,NM_033109.4,NM_033109.4:c.2196+226G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.956,0.0008,1KG_AFR_AF,PNPT1
434583,2:55864475:C>A,55864475,NM_033109.4,NM_033109.4:c.2196+212G>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.906,\N,\N,PNPT1
434584,2:55864562:A>G,55864562,NM_033109.4,NM_033109.4:c.2196+125T>C,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.004,0.001,1KG_EUR_AF,PNPT1
434585,2:55864563:T>C,55864563,NM_033109.4,NM_033109.4:c.2196+124A>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.488,0.0014,1KG_AMR_AF,PNPT1
434586,2:55864599:G>C,55864599,NM_033109.4,NM_033109.4:c.2196+88C>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.379,0.0008,1KG_AFR_AF,PNPT1
434587,2:55864601:G>A,55864601,NM_033109.4,NM_033109.4:c.2196+86C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.44,\N,\N,PNPT1
434588,2:55864641:C>T,55864641,NM_033109.4,NM_033109.4:c.2196+46G>A,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.266,0.0000606281,EXAC_SAS_AF,PNPT1
434589,2:55864664:G>A,55864664,NM_033109.4,NM_033109.4:c.2196+23C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.4,0.0000605914,EXAC_SAS_AF,PNPT1
434590,2:55864671:G>C,55864671,NM_033109.4,NM_033109.4:c.2196+16C>G,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.31,0.000060584,EXAC_SAS_AF,PNPT1
434591,2:55864672:G>A,55864672,NM_033109.4,NM_033109.4:c.2196+15C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.54,0.000115554,EXAC_EAS_AF,PNPT1
434592,2:55864674:G>A,55864674,NM_033109.4,NM_033109.4:c.2196+13C>T,\N,\N,\N,27/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.77,0.0000149912,EXAC_NFE_AF,PNPT1
434593,2:55864688:T>C,55864688,NM_033109.4,NM_033109.4:c.2195A>G,NP_149100.2:p.Gln732Arg,732,27/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,21.5,0.0000605767,EXAC_SAS_AF,PNPT1
434594,2:55864692:T>C,55864692,NM_033109.4,NM_033109.4:c.2191A>G,NP_149100.2:p.Ile731Val,731,27/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,23.8,\N,\N,PNPT1
434595,2:55864694:T>G,55864694,NM_033109.4,NM_033109.4:c.2189A>C,NP_149100.2:p.Glu730Ala,730,27/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,26,0.0000149889,EXAC_NFE_AF,PNPT1
434596,2:55864698:G>T,55864698,NM_033109.4,NM_033109.4:c.2185C>A,NP_149100.2:p.Gln729Lys,729,27/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,23.6,0.0000899334,EXAC_NFE_AF,PNPT1
434597,2:55864699:G>A,55864699,NM_033109.4,NM_033109.4:c.2184C>T,NP_149100.2:p.Gly728=,728,27/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,14.1,0.0000149885,EXAC_NFE_AF,PNPT1
434598,2:55864701:C>A,55864701,NM_033109.4,NM_033109.4:c.2182G>T,NP_149100.2:p.Gly728Cys,728,27/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,35,0.000116279,EVS_EA_AF,PNPT1
434599,2:55864701:C>T,55864701,NM_033109.4,NM_033109.4:c.2182G>A,NP_149100.2:p.Gly728Ser,728,27/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,35,0.0000149885,EXAC_NFE_AF,PNPT1
434600,2:55864702:A>G,55864702,NM_033109.4,NM_033109.4:c.2181T>C,NP_149100.2:p.Val727=,727,27/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.44,0.0000149885,EXAC_NFE_AF,PNPT1
434601,2:55864707:C>G,55864707,NM_033109.4,NM_033109.4:c.2176G>C,NP_149100.2:p.Glu726Gln,726,27/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,23.2,\N,\N,PNPT1
434602,2:55864738:G>GA,55864738,NM_033109.4,NM_033109.4:c.2149-5dup,\N,\N,\N,26/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.311,0.0134767,EXAC_FIN_AF,PNPT1
434603,2:55864738:GA>G,55864738,NM_033109.4,NM_033109.4:c.2149-5del,\N,\N,\N,26/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,8.167,0.000194363,EXAC_AFR_AF,PNPT1
434604,2:55864739:A>G,55864739,NM_033109.4,NM_033109.4:c.2149-5T>C,\N,\N,\N,26/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.86,0.0000622975,EXAC_SAS_AF,PNPT1
434605,2:55864745:A>C,55864745,NM_033109.4,NM_033109.4:c.2149-11T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.647,0.0015,1KG_AFR_AF,PNPT1
434606,2:55864748:T>A,55864748,NM_033109.4,NM_033109.4:c.2149-14A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.791,0.00113482,EVS_AA_AF,PNPT1
434607,2:55864752:A>T,55864752,NM_033109.4,NM_033109.4:c.2149-18T>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.782,0.00181571,EVS_AA_AF,PNPT1
434608,2:55864753:A>G,55864753,NM_033109.4,NM_033109.4:c.2149-19T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.537,0.000232558,EVS_EA_AF,PNPT1
434609,2:55864755:C>G,55864755,NM_033109.4,NM_033109.4:c.2149-21G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.33,0.0000149961,EXAC_NFE_AF,PNPT1
434610,2:55864755:C>T,55864755,NM_033109.4,NM_033109.4:c.2149-21G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.04,0.000172891,EXAC_AMR_AF,PNPT1
434611,2:55864756:T>C,55864756,NM_033109.4,NM_033109.4:c.2149-22A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.56,0.000462321,EXAC_EAS_AF,PNPT1
434612,2:55864760:AGTT>A,55864760,NM_033109.4,NM_033109.4:c.2149-29_2149-27del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.02,0.0000606061,EXAC_SAS_AF,PNPT1
434613,2:55864763:T>A,55864763,NM_033109.4,NM_033109.4:c.2149-29A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.27,0.0000606134,EXAC_SAS_AF,PNPT1
434614,2:55864777:A>T,55864777,NM_033109.4,NM_033109.4:c.2149-43T>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.681,0.0000299985,EXAC_NFE_AF,PNPT1
434615,2:55864778:T>C,55864778,NM_033109.4,NM_033109.4:c.2149-44A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.918,0.000116279,EVS_EA_AF,PNPT1
434616,2:55864781:A>G,55864781,NM_033109.4,NM_033109.4:c.2149-47T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.275,0.000348837,EVS_EA_AF,PNPT1
434617,2:55864784:G>C,55864784,NM_033109.4,NM_033109.4:c.2149-50C>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.902,0.0000865202,EXAC_AMR_AF,PNPT1
434618,2:55864786:C>A,55864786,NM_033109.4,NM_033109.4:c.2149-52G>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.163,0.0000150101,EXAC_NFE_AF,PNPT1
434619,2:55864839:A>C,55864839,NM_033109.4,NM_033109.4:c.2149-105T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.054,\N,\N,PNPT1
434620,2:55864844:G>A,55864844,NM_033109.4,NM_033109.4:c.2149-110C>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.598,0.0102,1KG_SAS_AF,PNPT1
434621,2:55864850:G>A,55864850,NM_033109.4,NM_033109.4:c.2149-116C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.081,\N,\N,PNPT1
434622,2:55864884:C>T,55864884,NM_033109.4,NM_033109.4:c.2149-150G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.82,0.0008,1KG_AFR_AF,PNPT1
434623,2:55864885:A>C,55864885,NM_033109.4,NM_033109.4:c.2149-151T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.812,0.0015,1KG_AFR_AF,PNPT1
434624,2:55864893:A>G,55864893,NM_033109.4,NM_033109.4:c.2149-159T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.295,0.0014,1KG_AMR_AF,PNPT1
434625,2:55864902:C>T,55864902,NM_033109.4,NM_033109.4:c.2149-168G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.649,\N,\N,PNPT1
434626,2:55864962:C>T,55864962,NM_033109.4,NM_033109.4:c.2149-228G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.316,\N,\N,PNPT1
434627,2:55864991:C>T,55864991,NM_033109.4,NM_033109.4:c.2149-257G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.531,0.0043,1KG_AMR_AF,PNPT1
434628,2:55865007:C>T,55865007,NM_033109.4,NM_033109.4:c.2149-273G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.234,\N,\N,PNPT1
434629,2:55865008:G>A,55865008,NM_033109.4,NM_033109.4:c.2149-274C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.861,0.0008,1KG_AFR_AF,PNPT1
434630,2:55865015:G>A,55865015,NM_033109.4,NM_033109.4:c.2149-281C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.393,\N,\N,PNPT1
434631,2:55865038:G>T,55865038,NM_033109.4,NM_033109.4:c.2149-304C>A,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.611,0.0953,1KG_AFR_AF,PNPT1
434632,2:55865052:G>A,55865052,NM_033109.4,NM_033109.4:c.2149-318C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.619,0.001,1KG_EAS_AF,PNPT1
434633,2:55865065:G>T,55865065,NM_033109.4,NM_033109.4:c.2149-331C>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.409,0.001,1KG_EAS_AF,PNPT1
434634,2:55865100:A>C,55865100,NM_033109.4,NM_033109.4:c.2149-366T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.854,\N,\N,PNPT1
434635,2:55865116:CAGAG>C,55865116,NM_033109.4,NM_033109.4:c.2149-386_2149-383del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434636,2:55865130:G>A,55865130,NM_033109.4,NM_033109.4:c.2149-396C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.157,\N,\N,PNPT1
434637,2:55865145:A>C,55865145,NM_033109.4,NM_033109.4:c.2149-411T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.462,\N,\N,PNPT1
434638,2:55865175:G>A,55865175,NM_033109.4,NM_033109.4:c.2149-441C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.07,\N,\N,PNPT1
434639,2:55865201:C>G,55865201,NM_033109.4,NM_033109.4:c.2149-467G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.168,0.0008,1KG_AFR_AF,PNPT1
434640,2:55865223:G>A,55865223,NM_033109.4,NM_033109.4:c.2149-489C>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.602,0.0083,1KG_AFR_AF,PNPT1
434641,2:55865227:C>T,55865227,NM_033109.4,NM_033109.4:c.2149-493G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.34,0.0014,1KG_AMR_AF,PNPT1
434642,2:55865235:G>A,55865235,NM_033109.4,NM_033109.4:c.2149-501C>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.921,0.0174,1KG_SAS_AF,PNPT1
434643,2:55865236:A>T,55865236,NM_033109.4,NM_033109.4:c.2149-502T>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.164,0.004,1KG_EAS_AF,PNPT1
434644,2:55865301:G>A,55865301,NM_033109.4,NM_033109.4:c.2149-567C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.051,\N,\N,PNPT1
434645,2:55865305:C>T,55865305,NM_033109.4,NM_033109.4:c.2149-571G>A,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.188,0.0051,1KG_SAS_AF,PNPT1
434646,2:55865322:A>C,55865322,NM_033109.4,NM_033109.4:c.2149-588T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.256,0.0015,1KG_AFR_AF,PNPT1
434647,2:55865323:G>A,55865323,NM_033109.4,NM_033109.4:c.2149-589C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.122,\N,\N,PNPT1
434648,2:55865329:T>C,55865329,NM_033109.4,NM_033109.4:c.2149-595A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.615,\N,\N,PNPT1
434649,2:55865383:G>A,55865383,NM_033109.4,NM_033109.4:c.2149-649C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.04,0.001,1KG_EAS_AF,PNPT1
434650,2:55865384:C>T,55865384,NM_033109.4,NM_033109.4:c.2149-650G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.815,\N,\N,PNPT1
434651,2:55865385:T>A,55865385,NM_033109.4,NM_033109.4:c.2149-651A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.17,\N,\N,PNPT1
434652,2:55865389:A>G,55865389,NM_033109.4,NM_033109.4:c.2149-655T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.112,\N,\N,PNPT1
434653,2:55865410:C>G,55865410,NM_033109.4,NM_033109.4:c.2149-676G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.514,\N,\N,PNPT1
434654,2:55865412:G>A,55865412,NM_033109.4,NM_033109.4:c.2149-678C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.793,0.0023,1KG_AFR_AF,PNPT1
434655,2:55865438:GA>G,55865438,NM_033109.4,NM_033109.4:c.2149-705del,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.243,0.84,1KG_EUR_AF,PNPT1
434656,2:55865440:A>G,55865440,NM_033109.4,NM_033109.4:c.2149-706T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.814,\N,\N,PNPT1
434657,2:55865469:G>C,55865469,NM_033109.4,NM_033109.4:c.2149-735C>G,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.84,0.3971,1KG_AFR_AF,PNPT1
434658,2:55865494:A>C,55865494,NM_033109.4,NM_033109.4:c.2149-760T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.06,\N,\N,PNPT1
434659,2:55865514:A>G,55865514,NM_033109.4,NM_033109.4:c.2149-780T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.86,0.0045,1KG_AFR_AF,PNPT1
434660,2:55865521:G>T,55865521,NM_033109.4,NM_033109.4:c.2149-787C>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.26,0.001,1KG_SAS_AF,PNPT1
434661,2:55865529:G>A,55865529,NM_033109.4,NM_033109.4:c.2149-795C>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,15.4,0.0208,1KG_EAS_AF,PNPT1
434662,2:55865553:T>G,55865553,NM_033109.4,NM_033109.4:c.2149-819A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.92,0.001,1KG_SAS_AF,PNPT1
434663,2:55865584:C>T,55865584,NM_033109.4,NM_033109.4:c.2149-850G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.31,0.0008,1KG_AFR_AF,PNPT1
434664,2:55865597:C>T,55865597,NM_033109.4,NM_033109.4:c.2149-863G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.159,0.0014,1KG_AMR_AF,PNPT1
434665,2:55865618:C>T,55865618,NM_033109.4,NM_033109.4:c.2149-884G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.23,\N,\N,PNPT1
434666,2:55865649:C>T,55865649,NM_033109.4,NM_033109.4:c.2149-915G>A,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.366,0.0174,1KG_SAS_AF,PNPT1
434667,2:55865650:G>A,55865650,NM_033109.4,NM_033109.4:c.2149-916C>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.534,0.008,1KG_EUR_AF,PNPT1
434668,2:55865683:C>G,55865683,NM_033109.4,NM_033109.4:c.2149-949G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.446,\N,\N,PNPT1
434669,2:55865727:T>G,55865727,NM_033109.4,NM_033109.4:c.2149-993A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.05,\N,\N,PNPT1
434670,2:55865746:T>C,55865746,NM_033109.4,NM_033109.4:c.2149-1012A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.396,\N,\N,PNPT1
434671,2:55865765:C>T,55865765,NM_033109.4,NM_033109.4:c.2149-1031G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.73,\N,\N,PNPT1
434672,2:55865795:A>G,55865795,NM_033109.4,NM_033109.4:c.2149-1061T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.629,\N,\N,PNPT1
434673,2:55865797:G>A,55865797,NM_033109.4,NM_033109.4:c.2149-1063C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.117,\N,\N,PNPT1
434674,2:55865809:T>C,55865809,NM_033109.4,NM_033109.4:c.2149-1075A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.58,0.0008,1KG_AFR_AF,PNPT1
434675,2:55865857:T>A,55865857,NM_033109.4,NM_033109.4:c.2149-1123A>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.519,0.0106,1KG_AFR_AF,PNPT1
434676,2:55865914:C>CT,55865914,NM_033109.4,NM_033109.4:c.2149-1181dup,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.342,\N,\N,PNPT1
434677,2:55865926:T>C,55865926,NM_033109.4,NM_033109.4:c.2149-1192A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.955,\N,\N,PNPT1
434678,2:55865927:T>G,55865927,NM_033109.4,NM_033109.4:c.2149-1193A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.184,\N,\N,PNPT1
434679,2:55865937:T>C,55865937,NM_033109.4,NM_033109.4:c.2149-1203A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.716,\N,\N,PNPT1
434680,2:55865940:C>T,55865940,NM_033109.4,NM_033109.4:c.2149-1206G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.735,0.001,1KG_EUR_AF,PNPT1
434681,2:55865944:C>T,55865944,NM_033109.4,NM_033109.4:c.2149-1210G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.483,\N,\N,PNPT1
434682,2:55865952:C>T,55865952,NM_033109.4,NM_033109.4:c.2149-1218G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.713,0.001,1KG_EAS_AF,PNPT1
434683,2:55865961:G>A,55865961,NM_033109.4,NM_033109.4:c.2149-1227C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.764,\N,\N,PNPT1
434684,2:55865965:A>G,55865965,NM_033109.4,NM_033109.4:c.2149-1231T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.017,0.001,1KG_SAS_AF,PNPT1
434685,2:55865978:C>G,55865978,NM_033109.4,NM_033109.4:c.2149-1244G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.488,0.001,1KG_EAS_AF,PNPT1
434686,2:55865979:C>T,55865979,NM_033109.4,NM_033109.4:c.2149-1245G>A,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.404,0.0051,1KG_SAS_AF,PNPT1
434687,2:55865980:G>A,55865980,NM_033109.4,NM_033109.4:c.2149-1246C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.662,0.0008,1KG_AFR_AF,PNPT1
434688,2:55866012:A>C,55866012,NM_033109.4,NM_033109.4:c.2149-1278T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.059,\N,\N,PNPT1
434689,2:55866022:G>C,55866022,NM_033109.4,NM_033109.4:c.2149-1288C>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.126,0.0014,1KG_AMR_AF,PNPT1
434690,2:55866045:G>A,55866045,NM_033109.4,NM_033109.4:c.2149-1311C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.496,\N,\N,PNPT1
434691,2:55866058:C>T,55866058,NM_033109.4,NM_033109.4:c.2149-1324G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.479,\N,\N,PNPT1
434692,2:55866065:A>C,55866065,NM_033109.4,NM_033109.4:c.2149-1331T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.222,\N,\N,PNPT1
434693,2:55866076:A>G,55866076,NM_033109.4,NM_033109.4:c.2149-1342T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.985,\N,\N,PNPT1
434694,2:55866100:G>A,55866100,NM_033109.4,NM_033109.4:c.2149-1366C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.212,0.0014,1KG_AMR_AF,PNPT1
434695,2:55866101:G>C,55866101,NM_033109.4,NM_033109.4:c.2149-1367C>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.45,0.0008,1KG_AFR_AF,PNPT1
434696,2:55866103:G>A,55866103,NM_033109.4,NM_033109.4:c.2149-1369C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.456,\N,\N,PNPT1
434697,2:55866130:C>T,55866130,NM_033109.4,NM_033109.4:c.2149-1396G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.962,\N,\N,PNPT1
434698,2:55866144:A>T,55866144,NM_033109.4,NM_033109.4:c.2149-1410T>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.791,\N,\N,PNPT1
434699,2:55866154:G>A,55866154,NM_033109.4,NM_033109.4:c.2149-1420C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.327,0.001,1KG_EAS_AF,PNPT1
434700,2:55866157:C>T,55866157,NM_033109.4,NM_033109.4:c.2149-1423G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.717,\N,\N,PNPT1
434701,2:55866190:C>T,55866190,NM_033109.4,NM_033109.4:c.2149-1456G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.699,\N,\N,PNPT1
434702,2:55866210:C>G,55866210,NM_033109.4,NM_033109.4:c.2149-1476G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.167,0.001,1KG_EAS_AF,PNPT1
434703,2:55866219:T>A,55866219,NM_033109.4,NM_033109.4:c.2149-1485A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.828,0.001,1KG_EUR_AF,PNPT1
434704,2:55866226:A>C,55866226,NM_033109.4,NM_033109.4:c.2149-1492T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.298,\N,\N,PNPT1
434705,2:55866228:A>G,55866228,NM_033109.4,NM_033109.4:c.2149-1494T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.329,0.001,1KG_EUR_AF,PNPT1
434706,2:55866255:T>G,55866255,NM_033109.4,NM_033109.4:c.2148+1507A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.036,\N,\N,PNPT1
434707,2:55866262:C>G,55866262,NM_033109.4,NM_033109.4:c.2148+1500G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.227,\N,\N,PNPT1
434708,2:55866301:T>C,55866301,NM_033109.4,NM_033109.4:c.2148+1461A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.294,0.0029,1KG_AMR_AF,PNPT1
434709,2:55866326:T>C,55866326,NM_033109.4,NM_033109.4:c.2148+1436A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.282,\N,\N,PNPT1
434710,2:55866334:A>C,55866334,NM_033109.4,NM_033109.4:c.2148+1428T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.694,\N,\N,PNPT1
434711,2:55866360:T>C,55866360,NM_033109.4,NM_033109.4:c.2148+1402A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.899,0.003,1KG_AFR_AF,PNPT1
434712,2:55866453:A>G,55866453,NM_033109.4,NM_033109.4:c.2148+1309T>C,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.697,0.9932,1KG_AFR_AF,PNPT1
434713,2:55866466:T>C,55866466,NM_033109.4,NM_033109.4:c.2148+1296A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.911,\N,\N,PNPT1
434714,2:55866479:T>G,55866479,NM_033109.4,NM_033109.4:c.2148+1283A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.221,0.0014,1KG_AMR_AF,PNPT1
434715,2:55866514:A>T,55866514,NM_033109.4,NM_033109.4:c.2148+1248T>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.59,\N,\N,PNPT1
434716,2:55866517:G>C,55866517,NM_033109.4,NM_033109.4:c.2148+1245C>G,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.83,0.0378,1KG_EUR_AF,PNPT1
434717,2:55866571:A>G,55866571,NM_033109.4,NM_033109.4:c.2148+1191T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.483,\N,\N,PNPT1
434718,2:55866576:A>G,55866576,NM_033109.4,NM_033109.4:c.2148+1186T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.794,\N,\N,PNPT1
434719,2:55866599:T>C,55866599,NM_033109.4,NM_033109.4:c.2148+1163A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.948,\N,\N,PNPT1
434720,2:55866605:C>G,55866605,NM_033109.4,NM_033109.4:c.2148+1157G>C,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.354,0.3971,1KG_AFR_AF,PNPT1
434721,2:55866616:TTAAAC>T,55866616,NM_033109.4,NM_033109.4:c.2148+1141_2148+1145del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434722,2:55866641:A>G,55866641,NM_033109.4,NM_033109.4:c.2148+1121T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.016,\N,\N,PNPT1
434723,2:55866644:T>C,55866644,NM_033109.4,NM_033109.4:c.2148+1118A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.616,\N,\N,PNPT1
434724,2:55866656:T>C,55866656,NM_033109.4,NM_033109.4:c.2148+1106A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.695,0.002,1KG_EAS_AF,PNPT1
434725,2:55866690:CTTGG>C,55866690,NM_033109.4,NM_033109.4:c.2148+1068_2148+1071del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434726,2:55866727:C>G,55866727,NM_033109.4,NM_033109.4:c.2148+1035G>C,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.85,0.0068,1KG_AFR_AF,PNPT1
434727,2:55866749:A>G,55866749,NM_033109.4,NM_033109.4:c.2148+1013T>C,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.56,0.0123,1KG_SAS_AF,PNPT1
434728,2:55866763:C>G,55866763,NM_033109.4,NM_033109.4:c.2148+999G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.749,\N,\N,PNPT1
434729,2:55866763:C>T,55866763,NM_033109.4,NM_033109.4:c.2148+999G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.81,0.0014,1KG_AMR_AF,PNPT1
434730,2:55866786:A>T,55866786,NM_033109.4,NM_033109.4:c.2148+976T>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.479,\N,\N,PNPT1
434731,2:55866842:T>A,55866842,NM_033109.4,NM_033109.4:c.2148+920A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.526,0.0015,1KG_AFR_AF,PNPT1
434732,2:55866845:T>C,55866845,NM_033109.4,NM_033109.4:c.2148+917A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.041,0.002,1KG_SAS_AF,PNPT1
434733,2:55866851:T>A,55866851,NM_033109.4,NM_033109.4:c.2148+911A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.555,0.002,1KG_EUR_AF,PNPT1
434734,2:55866877:G>C,55866877,NM_033109.4,NM_033109.4:c.2148+885C>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.472,0.002,1KG_EUR_AF,PNPT1
434735,2:55866912:C>G,55866912,NM_033109.4,NM_033109.4:c.2148+850G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.447,0.0029,1KG_AMR_AF,PNPT1
434736,2:55866920:T>C,55866920,NM_033109.4,NM_033109.4:c.2148+842A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.237,0.0008,1KG_AFR_AF,PNPT1
434737,2:55866921:C>CAT,55866921,NM_033109.4,NM_033109.4:c.2148+839_2148+840dup,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.256,0.0023,1KG_AFR_AF,PNPT1
434738,2:55866994:C>A,55866994,NM_033109.4,NM_033109.4:c.2148+768G>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.43,\N,\N,PNPT1
434739,2:55866997:G>C,55866997,NM_033109.4,NM_033109.4:c.2148+765C>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.024,0.002,1KG_EAS_AF,PNPT1
434740,2:55867002:T>C,55867002,NM_033109.4,NM_033109.4:c.2148+760A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.045,0.0008,1KG_AFR_AF,PNPT1
434741,2:55867007:T>C,55867007,NM_033109.4,NM_033109.4:c.2148+755A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.043,\N,\N,PNPT1
434742,2:55867013:C>A,55867013,NM_033109.4,NM_033109.4:c.2148+749G>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.713,\N,\N,PNPT1
434743,2:55867027:A>C,55867027,NM_033109.4,NM_033109.4:c.2148+735T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.318,0.001,1KG_EAS_AF,PNPT1
434744,2:55867088:T>C,55867088,NM_033109.4,NM_033109.4:c.2148+674A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.387,0.0014,1KG_AMR_AF,PNPT1
434745,2:55867094:T>A,55867094,NM_033109.4,NM_033109.4:c.2148+668A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.845,\N,\N,PNPT1
434746,2:55867097:C>A,55867097,NM_033109.4,NM_033109.4:c.2148+665G>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.754,0.0953,1KG_AFR_AF,PNPT1
434747,2:55867145:A>G,55867145,NM_033109.4,NM_033109.4:c.2148+617T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.886,0.0008,1KG_AFR_AF,PNPT1
434748,2:55867151:A>C,55867151,NM_033109.4,NM_033109.4:c.2148+611T>G,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.493,0.0716,1KG_SAS_AF,PNPT1
434749,2:55867159:C>T,55867159,NM_033109.4,NM_033109.4:c.2148+603G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.094,\N,\N,PNPT1
434750,2:55867172:C>A,55867172,NM_033109.4,NM_033109.4:c.2148+590G>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.198,0.001,1KG_SAS_AF,PNPT1
434751,2:55867195:T>A,55867195,NM_033109.4,NM_033109.4:c.2148+567A>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.177,0.0014,1KG_AMR_AF,PNPT1
434752,2:55867231:C>T,55867231,NM_033109.4,NM_033109.4:c.2148+531G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.137,0.0014,1KG_AMR_AF,PNPT1
434753,2:55867239:T>C,55867239,NM_033109.4,NM_033109.4:c.2148+523A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.165,0.0008,1KG_AFR_AF,PNPT1
434754,2:55867264:T>C,55867264,NM_033109.4,NM_033109.4:c.2148+498A>G,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.581,0.0068,1KG_AFR_AF,PNPT1
434755,2:55867279:T>G,55867279,NM_033109.4,NM_033109.4:c.2148+483A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.142,0.0038,1KG_AFR_AF,PNPT1
434756,2:55867294:ACT>A,55867294,NM_033109.4,NM_033109.4:c.2148+466_2148+467del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434757,2:55867298:T>C,55867298,NM_033109.4,NM_033109.4:c.2148+464A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.246,\N,\N,PNPT1
434758,2:55867366:G>A,55867366,NM_033109.4,NM_033109.4:c.2148+396C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.107,0.0015,1KG_AFR_AF,PNPT1
434759,2:55867381:C>T,55867381,NM_033109.4,NM_033109.4:c.2148+381G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.134,0.003,1KG_EAS_AF,PNPT1
434760,2:55867384:G>A,55867384,NM_033109.4,NM_033109.4:c.2148+378C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.48,0.001,1KG_SAS_AF,PNPT1
434761,2:55867391:C>T,55867391,NM_033109.4,NM_033109.4:c.2148+371G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.764,0.0014,1KG_AMR_AF,PNPT1
434762,2:55867398:C>T,55867398,NM_033109.4,NM_033109.4:c.2148+364G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.539,0.001,1KG_EUR_AF,PNPT1
434763,2:55867413:C>T,55867413,NM_033109.4,NM_033109.4:c.2148+349G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.049,0.001,1KG_SAS_AF,PNPT1
434764,2:55867422:A>G,55867422,NM_033109.4,NM_033109.4:c.2148+340T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.032,\N,\N,PNPT1
434765,2:55867426:C>T,55867426,NM_033109.4,NM_033109.4:c.2148+336G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.844,0.001,1KG_EUR_AF,PNPT1
434766,2:55867428:A>G,55867428,NM_033109.4,NM_033109.4:c.2148+334T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.978,0.0038,1KG_AFR_AF,PNPT1
434767,2:55867430:A>C,55867430,NM_033109.4,NM_033109.4:c.2148+332T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.664,\N,\N,PNPT1
434768,2:55867431:T>C,55867431,NM_033109.4,NM_033109.4:c.2148+331A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.265,0.0023,1KG_AFR_AF,PNPT1
434769,2:55867433:C>T,55867433,NM_033109.4,NM_033109.4:c.2148+329G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.474,\N,\N,PNPT1
434770,2:55867434:G>A,55867434,NM_033109.4,NM_033109.4:c.2148+328C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.018,0.0014,1KG_AMR_AF,PNPT1
434771,2:55867437:C>T,55867437,NM_033109.4,NM_033109.4:c.2148+325G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.82,\N,\N,PNPT1
434772,2:55867445:C>T,55867445,NM_033109.4,NM_033109.4:c.2148+317G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.505,0.002,1KG_EAS_AF,PNPT1
434773,2:55867446:G>A,55867446,NM_033109.4,NM_033109.4:c.2148+316C>T,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.874,0.0953,1KG_AFR_AF,PNPT1
434774,2:55867474:A>T,55867474,NM_033109.4,NM_033109.4:c.2148+288T>A,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.559,0.1268,1KG_SAS_AF,PNPT1
434775,2:55867494:G>T,55867494,NM_033109.4,NM_033109.4:c.2148+268C>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.089,\N,\N,PNPT1
434776,2:55867511:T>C,55867511,NM_033109.4,NM_033109.4:c.2148+251A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.119,0.001,1KG_SAS_AF,PNPT1
434777,2:55867528:T>C,55867528,NM_033109.4,NM_033109.4:c.2148+234A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.198,\N,\N,PNPT1
434778,2:55867533:C>T,55867533,NM_033109.4,NM_033109.4:c.2148+229G>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.132,\N,\N,PNPT1
434779,2:55867539:G>A,55867539,NM_033109.4,NM_033109.4:c.2148+223C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.211,0.001,1KG_SAS_AF,PNPT1
434780,2:55867562:C>G,55867562,NM_033109.4,NM_033109.4:c.2148+200G>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.216,0.0008,1KG_AFR_AF,PNPT1
434781,2:55867570:A>G,55867570,NM_033109.4,NM_033109.4:c.2148+192T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.605,0.002,1KG_EAS_AF,PNPT1
434782,2:55867591:T>G,55867591,NM_033109.4,NM_033109.4:c.2148+171A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.992,0.003,1KG_EUR_AF,PNPT1
434783,2:55867597:T>G,55867597,NM_033109.4,NM_033109.4:c.2148+165A>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.658,0.002,1KG_EAS_AF,PNPT1
434784,2:55867617:T>G,55867617,NM_033109.4,NM_033109.4:c.2148+145A>C,\N,\N,\N,26/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.208,0.0179,1KG_EAS_AF,PNPT1
434785,2:55867649:C>A,55867649,NM_033109.4,NM_033109.4:c.2148+113G>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.81,0.0023,1KG_AFR_AF,PNPT1
434786,2:55867659:G>A,55867659,NM_033109.4,NM_033109.4:c.2148+103C>T,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.37,\N,\N,PNPT1
434787,2:55867660:C>CTAG,55867660,NM_033109.4,NM_033109.4:c.2148+99_2148+101dup,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434788,2:55867707:A>G,55867707,NM_033109.4,NM_033109.4:c.2148+55T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.435,0.001,1KG_SAS_AF,PNPT1
434789,2:55867711:A>C,55867711,NM_033109.4,NM_033109.4:c.2148+51T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.101,0.000227169,EVS_AA_AF,PNPT1
434790,2:55867734:A>C,55867734,NM_033109.4,NM_033109.4:c.2148+28T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.235,0.0000150643,EXAC_NFE_AF,PNPT1
434791,2:55867735:TAATAAC>T,55867735,NM_033109.4,NM_033109.4:c.2148+21_2148+26del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.87,0.000194439,EXAC_AFR_AF,PNPT1
434792,2:55867736:A>C,55867736,NM_033109.4,NM_033109.4:c.2148+26T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.148,0.000116523,EVS_EA_AF,PNPT1
434793,2:55867738:T>C,55867738,NM_033109.4,NM_033109.4:c.2148+24A>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.638,0.000433576,EXAC_AMR_AF,PNPT1
434794,2:55867739:A>T,55867739,NM_033109.4,NM_033109.4:c.2148+23T>A,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.469,0.000433351,EXAC_AMR_AF,PNPT1
434795,2:55867742:A>G,55867742,NM_033109.4,NM_033109.4:c.2148+20T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.074,0.000387747,EXAC_AFR_AF,PNPT1
434796,2:55867743:A>G,55867743,NM_033109.4,NM_033109.4:c.2148+19T>C,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.647,0.0000607017,EXAC_SAS_AF,PNPT1
434797,2:55867746:A>C,55867746,NM_033109.4,NM_033109.4:c.2148+16T>G,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.412,0.000227066,EVS_AA_AF,PNPT1
434798,2:55867748:ATC>A,55867748,NM_033109.4,NM_033109.4:c.2148+12_2148+13del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.721,0.000060687,EXAC_SAS_AF,PNPT1
434799,2:55867750:CTG>C,55867750,NM_033109.4,NM_033109.4:c.2148+10_2148+11del,\N,\N,\N,26/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.789,0.0000300436,EXAC_NFE_AF,PNPT1
434800,2:55867754:C>G,55867754,NM_033109.4,NM_033109.4:c.2148+8G>C,\N,\N,\N,26/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,12.18,0.001,1KG_EAS_AF,PNPT1
434801,2:55867756:T>A,55867756,NM_033109.4,NM_033109.4:c.2148+6A>T,\N,\N,\N,26/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.49,0.000869061,EXAC_AFR_AF,PNPT1
434802,2:55867765:T>A,55867765,NM_033109.4,NM_033109.4:c.2145A>T,NP_149100.2:p.Arg715=,715,26/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.29,0.001,1KG_EAS_AF,PNPT1
434803,2:55867766:C>T,55867766,NM_033109.4,NM_033109.4:c.2144G>A,NP_149100.2:p.Arg715Gln,715,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,25.3,0.0000964134,EXAC_AFR_AF,PNPT1
434804,2:55867773:C>G,55867773,NM_033109.4,NM_033109.4:c.2137G>C,NP_149100.2:p.Asp713His,713,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,33,0.0000605767,EXAC_SAS_AF,PNPT1
434805,2:55867776:G>A,55867776,NM_033109.4,NM_033109.4:c.2134C>T,NP_149100.2:p.Leu712Phe,712,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,32,0.000116279,EVS_EA_AF,PNPT1
434806,2:55867777:T>C,55867777,NM_033109.4,NM_033109.4:c.2133A>G,NP_149100.2:p.Gln711=,711,26/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.84,0.00011558,EXAC_EAS_AF,PNPT1
434807,2:55867777:T>G,55867777,NM_033109.4,NM_033109.4:c.2133A>C,NP_149100.2:p.Gln711His,711,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,22.5,0.0000150002,EXAC_NFE_AF,PNPT1
434808,2:55867781:G>A,55867781,NM_033109.4,NM_033109.4:c.2129C>T,NP_149100.2:p.Thr710Ile,710,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,25.4,0.000116279,EVS_EA_AF,PNPT1
434809,2:55867798:C>T,55867798,NM_033109.4,NM_033109.4:c.2112G>A,NP_149100.2:p.Ala704=,704,26/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,19.75,0.000431928,EXAC_AMR_AF,PNPT1
434810,2:55867799:G>A,55867799,NM_033109.4,NM_033109.4:c.2111C>T,NP_149100.2:p.Ala704Val,704,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,24.5,0.0000150011,EXAC_NFE_AF,PNPT1
434811,2:55867804:C>G,55867804,NM_033109.4,NM_033109.4:c.2106G>C,NP_149100.2:p.Met702Ile,702,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,26.3,0.000116279,EVS_EA_AF,PNPT1
434812,2:55867809:T>A,55867809,NM_033109.4,NM_033109.4:c.2101A>T,NP_149100.2:p.Asn701Tyr,701,26/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,30,0.0000300066,EXAC_NFE_AF,PNPT1
434813,2:55867845:A>G,55867845,NM_033109.4,NM_033109.4:c.2070-5T>C,\N,\N,\N,25/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,3.305,0.0168348,EXAC_SAS_AF,PNPT1
434814,2:55867848:AAAAT>A,55867848,NM_033109.4,NM_033109.4:c.2070-12_2070-9del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.6,0.000116632,EXAC_EAS_AF,PNPT1
434815,2:55867853:A>T,55867853,NM_033109.4,NM_033109.4:c.2070-13T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.608,0.0000151593,EXAC_NFE_AF,PNPT1
434816,2:55867856:T>C,55867856,NM_033109.4,NM_033109.4:c.2070-16A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.002,0.000121788,EXAC_SAS_AF,PNPT1
434817,2:55867856:TAGTA>T,55867856,NM_033109.4,NM_033109.4:c.2070-20_2070-17del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.672,0.0000608939,EXAC_SAS_AF,PNPT1
434818,2:55867869:T>G,55867869,NM_033109.4,NM_033109.4:c.2070-29A>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.28,0.000116523,EVS_EA_AF,PNPT1
434819,2:55867871:AAAT>A,55867871,NM_033109.4,NM_033109.4:c.2070-34_2070-32del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.421,\N,\N,PNPT1
434820,2:55867880:G>T,55867880,NM_033109.4,NM_033109.4:c.2070-40C>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.792,0.000122489,EXAC_SAS_AF,PNPT1
434821,2:55867891:T>G,55867891,NM_033109.4,NM_033109.4:c.2070-51A>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.211,0.0000616143,EXAC_SAS_AF,PNPT1
434822,2:55867895:T>C,55867895,NM_033109.4,NM_033109.4:c.2070-55A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.179,\N,\N,PNPT1
434823,2:55867922:G>A,55867922,NM_033109.4,NM_033109.4:c.2070-82C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.177,\N,\N,PNPT1
434824,2:55867925:G>A,55867925,NM_033109.4,NM_033109.4:c.2070-85C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.335,\N,\N,PNPT1
434825,2:55867937:A>G,55867937,NM_033109.4,NM_033109.4:c.2070-97T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.475,\N,\N,PNPT1
434826,2:55867938:A>G,55867938,NM_033109.4,NM_033109.4:c.2070-98T>C,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.741,0.411,1KG_SAS_AF,PNPT1
434827,2:55867939:C>T,55867939,NM_033109.4,NM_033109.4:c.2070-99G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.364,\N,\N,PNPT1
434828,2:55868006:C>T,55868006,NM_033109.4,NM_033109.4:c.2070-166G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.431,0.001,1KG_SAS_AF,PNPT1
434829,2:55868009:T>C,55868009,NM_033109.4,NM_033109.4:c.2070-169A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.383,\N,\N,PNPT1
434830,2:55868013:T>C,55868013,NM_033109.4,NM_033109.4:c.2070-173A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.599,0.002,1KG_EAS_AF,PNPT1
434831,2:55868024:G>C,55868024,NM_033109.4,NM_033109.4:c.2070-184C>G,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.982,0.0325,1KG_AFR_AF,PNPT1
434832,2:55868062:A>C,55868062,NM_033109.4,NM_033109.4:c.2070-222T>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.826,\N,\N,PNPT1
434833,2:55868065:A>G,55868065,NM_033109.4,NM_033109.4:c.2070-225T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.056,\N,\N,PNPT1
434834,2:55868088:C>T,55868088,NM_033109.4,NM_033109.4:c.2070-248G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.948,0.002,1KG_SAS_AF,PNPT1
434835,2:55868089:G>A,55868089,NM_033109.4,NM_033109.4:c.2070-249C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.839,\N,\N,PNPT1
434836,2:55868124:G>A,55868124,NM_033109.4,NM_033109.4:c.2070-284C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.983,0.001,1KG_SAS_AF,PNPT1
434837,2:55868127:A>G,55868127,NM_033109.4,NM_033109.4:c.2070-287T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.819,\N,\N,PNPT1
434838,2:55868152:A>G,55868152,NM_033109.4,NM_033109.4:c.2070-312T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.077,\N,\N,PNPT1
434839,2:55868153:G>A,55868153,NM_033109.4,NM_033109.4:c.2070-313C>T,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.014,0.028,1KG_AFR_AF,PNPT1
434840,2:55868157:A>T,55868157,NM_033109.4,NM_033109.4:c.2070-317T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.551,\N,\N,PNPT1
434841,2:55868158:A>G,55868158,NM_033109.4,NM_033109.4:c.2070-318T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.525,\N,\N,PNPT1
434842,2:55868176:T>C,55868176,NM_033109.4,NM_033109.4:c.2070-336A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.141,\N,\N,PNPT1
434843,2:55868187:C>T,55868187,NM_033109.4,NM_033109.4:c.2070-347G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.289,0.001,1KG_EAS_AF,PNPT1
434844,2:55868188:G>A,55868188,NM_033109.4,NM_033109.4:c.2070-348C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.087,0.001,1KG_EUR_AF,PNPT1
434845,2:55868196:T>C,55868196,NM_033109.4,NM_033109.4:c.2070-356A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.155,\N,\N,PNPT1
434846,2:55868217:G>T,55868217,NM_033109.4,NM_033109.4:c.2070-377C>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.945,\N,\N,PNPT1
434847,2:55868222:G>A,55868222,NM_033109.4,NM_033109.4:c.2070-382C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.698,\N,\N,PNPT1
434848,2:55868226:G>A,55868226,NM_033109.4,NM_033109.4:c.2070-386C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.139,0.0008,1KG_AFR_AF,PNPT1
434849,2:55868227:C>T,55868227,NM_033109.4,NM_033109.4:c.2070-387G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.841,0.0008,1KG_AFR_AF,PNPT1
434850,2:55868228:G>A,55868228,NM_033109.4,NM_033109.4:c.2070-388C>T,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.547,0.005,1KG_EAS_AF,PNPT1
434851,2:55868229:C>T,55868229,NM_033109.4,NM_033109.4:c.2070-389G>A,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.534,0.0098,1KG_AFR_AF,PNPT1
434852,2:55868242:C>T,55868242,NM_033109.4,NM_033109.4:c.2070-402G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.377,\N,\N,PNPT1
434853,2:55868244:A>T,55868244,NM_033109.4,NM_033109.4:c.2070-404T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.764,\N,\N,PNPT1
434854,2:55868255:A>G,55868255,NM_033109.4,NM_033109.4:c.2070-415T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.95,0.002,1KG_EAS_AF,PNPT1
434855,2:55868262:G>T,55868262,NM_033109.4,NM_033109.4:c.2070-422C>A,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.63,0.0068,1KG_AFR_AF,PNPT1
434856,2:55868266:G>A,55868266,NM_033109.4,NM_033109.4:c.2070-426C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.503,0.002,1KG_EAS_AF,PNPT1
434857,2:55868269:G>A,55868269,NM_033109.4,NM_033109.4:c.2070-429C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.029,0.0008,1KG_AFR_AF,PNPT1
434858,2:55868272:T>C,55868272,NM_033109.4,NM_033109.4:c.2070-432A>G,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.163,0.0072,1KG_AMR_AF,PNPT1
434859,2:55868276:T>C,55868276,NM_033109.4,NM_033109.4:c.2070-436A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.726,\N,\N,PNPT1
434860,2:55868278:G>C,55868278,NM_033109.4,NM_033109.4:c.2070-438C>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.08,0.0014,1KG_AMR_AF,PNPT1
434861,2:55868303:G>A,55868303,NM_033109.4,NM_033109.4:c.2070-463C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.031,0.003,1KG_AFR_AF,PNPT1
434862,2:55868307:C>T,55868307,NM_033109.4,NM_033109.4:c.2070-467G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.194,\N,\N,PNPT1
434863,2:55868308:G>C,55868308,NM_033109.4,NM_033109.4:c.2070-468C>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.162,\N,\N,PNPT1
434864,2:55868314:G>A,55868314,NM_033109.4,NM_033109.4:c.2070-474C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.408,0.0008,1KG_AFR_AF,PNPT1
434865,2:55868337:A>G,55868337,NM_033109.4,NM_033109.4:c.2070-497T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.538,\N,\N,PNPT1
434866,2:55868353:G>A,55868353,NM_033109.4,NM_033109.4:c.2070-513C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.457,0.0029,1KG_AMR_AF,PNPT1
434867,2:55868397:C>T,55868397,NM_033109.4,NM_033109.4:c.2070-557G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.761,\N,\N,PNPT1
434868,2:55868418:AT>A,55868418,NM_033109.4,NM_033109.4:c.2070-579del,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.74,0.8616,1KG_AFR_AF,PNPT1
434869,2:55868418:ATT>A,55868418,NM_033109.4,NM_033109.4:c.2070-580_2070-579del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.837,\N,\N,PNPT1
434870,2:55868418:ATTT>A,55868418,NM_033109.4,NM_033109.4:c.2070-581_2070-579del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.945,\N,\N,PNPT1
434871,2:55868473:G>A,55868473,NM_033109.4,NM_033109.4:c.2070-633C>T,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.305,0.0303,1KG_AFR_AF,PNPT1
434872,2:55868485:C>T,55868485,NM_033109.4,NM_033109.4:c.2070-645G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.99,0.001,1KG_SAS_AF,PNPT1
434873,2:55868602:C>T,55868602,NM_033109.4,NM_033109.4:c.2070-762G>A,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.054,0.1421,1KG_SAS_AF,PNPT1
434874,2:55868610:G>T,55868610,NM_033109.4,NM_033109.4:c.2070-770C>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.085,\N,\N,PNPT1
434875,2:55868642:G>A,55868642,NM_033109.4,NM_033109.4:c.2070-802C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.12,0.001,1KG_EUR_AF,PNPT1
434876,2:55868681:A>G,55868681,NM_033109.4,NM_033109.4:c.2070-841T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.803,\N,\N,PNPT1
434877,2:55868682:T>A,55868682,NM_033109.4,NM_033109.4:c.2070-842A>T,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.056,0.0051,1KG_SAS_AF,PNPT1
434878,2:55868720:T>C,55868720,NM_033109.4,NM_033109.4:c.2070-880A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.146,\N,\N,PNPT1
434879,2:55868761:T>C,55868761,NM_033109.4,NM_033109.4:c.2070-921A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.821,0.002,1KG_EUR_AF,PNPT1
434880,2:55868772:T>C,55868772,NM_033109.4,NM_033109.4:c.2070-932A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.195,\N,\N,PNPT1
434881,2:55868797:CA>C,55868797,NM_033109.4,NM_033109.4:c.2070-958del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434882,2:55868804:T>C,55868804,NM_033109.4,NM_033109.4:c.2070-964A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.904,0.002,1KG_SAS_AF,PNPT1
434883,2:55868813:C>T,55868813,NM_033109.4,NM_033109.4:c.2070-973G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.034,\N,\N,PNPT1
434884,2:55868814:C>T,55868814,NM_033109.4,NM_033109.4:c.2070-974G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.49,0.003,1KG_AFR_AF,PNPT1
434885,2:55868821:A>G,55868821,NM_033109.4,NM_033109.4:c.2070-981T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.285,\N,\N,PNPT1
434886,2:55868854:T>C,55868854,NM_033109.4,NM_033109.4:c.2070-1014A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.471,0.002,1KG_SAS_AF,PNPT1
434887,2:55868859:A>G,55868859,NM_033109.4,NM_033109.4:c.2070-1019T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.54,\N,\N,PNPT1
434888,2:55868882:C>A,55868882,NM_033109.4,NM_033109.4:c.2070-1042G>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.77,\N,\N,PNPT1
434889,2:55868964:T>C,55868964,NM_033109.4,NM_033109.4:c.2070-1124A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.291,0.001,1KG_EUR_AF,PNPT1
434890,2:55868966:T>G,55868966,NM_033109.4,NM_033109.4:c.2070-1126A>C,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.493,0.5646,1KG_EUR_AF,PNPT1
434891,2:55868971:C>G,55868971,NM_033109.4,NM_033109.4:c.2070-1131G>C,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.921,0.1657,1KG_AFR_AF,PNPT1
434892,2:55868981:C>CT,55868981,NM_033109.4,NM_033109.4:c.2070-1142dup,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.842,0.0879,1KG_AMR_AF|1KG_SAS_AF,PNPT1
434893,2:55869000:G>A,55869000,NM_033109.4,NM_033109.4:c.2070-1160C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.941,\N,\N,PNPT1
434894,2:55869007:C>T,55869007,NM_033109.4,NM_033109.4:c.2070-1167G>A,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.106,0.0399,1KG_SAS_AF,PNPT1
434895,2:55869010:T>C,55869010,NM_033109.4,NM_033109.4:c.2070-1170A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.885,0.0015,1KG_AFR_AF,PNPT1
434896,2:55869015:C>T,55869015,NM_033109.4,NM_033109.4:c.2070-1175G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.971,0.001,1KG_EUR_AF,PNPT1
434897,2:55869056:A>T,55869056,NM_033109.4,NM_033109.4:c.2070-1216T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.545,\N,\N,PNPT1
434898,2:55869069:C>T,55869069,NM_033109.4,NM_033109.4:c.2069+1224G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.232,0.0008,1KG_AFR_AF,PNPT1
434899,2:55869079:C>T,55869079,NM_033109.4,NM_033109.4:c.2069+1214G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.964,\N,\N,PNPT1
434900,2:55869130:C>T,55869130,NM_033109.4,NM_033109.4:c.2069+1163G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.218,0.001,1KG_EAS_AF,PNPT1
434901,2:55869201:C>G,55869201,NM_033109.4,NM_033109.4:c.2069+1092G>C,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.662,0.0136,1KG_AFR_AF,PNPT1
434902,2:55869238:G>A,55869238,NM_033109.4,NM_033109.4:c.2069+1055C>T,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.023,0.0099,1KG_EAS_AF,PNPT1
434903,2:55869255:G>A,55869255,NM_033109.4,NM_033109.4:c.2069+1038C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.161,0.002,1KG_EAS_AF,PNPT1
434904,2:55869263:C>G,55869263,NM_033109.4,NM_033109.4:c.2069+1030G>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.089,0.002,1KG_SAS_AF,PNPT1
434905,2:55869306:G>C,55869306,NM_033109.4,NM_033109.4:c.2069+987C>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.405,\N,\N,PNPT1
434906,2:55869339:G>GA,55869339,NM_033109.4,NM_033109.4:c.2069+953dup,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434907,2:55869353:T>G,55869353,NM_033109.4,NM_033109.4:c.2069+940A>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.285,0.001,1KG_SAS_AF,PNPT1
434908,2:55869367:T>C,55869367,NM_033109.4,NM_033109.4:c.2069+926A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.564,\N,\N,PNPT1
434909,2:55869380:G>T,55869380,NM_033109.4,NM_033109.4:c.2069+913C>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.763,0.0031,1KG_SAS_AF,PNPT1
434910,2:55869423:C>G,55869423,NM_033109.4,NM_033109.4:c.2069+870G>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.419,0.001,1KG_EUR_AF,PNPT1
434911,2:55869429:C>T,55869429,NM_033109.4,NM_033109.4:c.2069+864G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.242,0.003,1KG_AFR_AF,PNPT1
434912,2:55869446:T>A,55869446,NM_033109.4,NM_033109.4:c.2069+847A>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.748,0.001,1KG_EAS_AF,PNPT1
434913,2:55869463:C>T,55869463,NM_033109.4,NM_033109.4:c.2069+830G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.163,0.001,1KG_EUR_AF,PNPT1
434914,2:55869464:G>A,55869464,NM_033109.4,NM_033109.4:c.2069+829C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.974,\N,\N,PNPT1
434915,2:55869470:G>A,55869470,NM_033109.4,NM_033109.4:c.2069+823C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.186,0.0045,1KG_AFR_AF,PNPT1
434916,2:55869479:A>C,55869479,NM_033109.4,NM_033109.4:c.2069+814T>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.555,\N,\N,PNPT1
434917,2:55869479:A>T,55869479,NM_033109.4,NM_033109.4:c.2069+814T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.977,0.002,1KG_EUR_AF,PNPT1
434918,2:55869493:G>A,55869493,NM_033109.4,NM_033109.4:c.2069+800C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.454,0.003,1KG_AFR_AF,PNPT1
434919,2:55869494:T>C,55869494,NM_033109.4,NM_033109.4:c.2069+799A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.835,\N,\N,PNPT1
434920,2:55869508:G>A,55869508,NM_033109.4,NM_033109.4:c.2069+785C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.594,0.002,1KG_EAS_AF,PNPT1
434921,2:55869512:G>C,55869512,NM_033109.4,NM_033109.4:c.2069+781C>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.03,0.002,1KG_EAS_AF,PNPT1
434922,2:55869517:G>A,55869517,NM_033109.4,NM_033109.4:c.2069+776C>T,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.041,0.0109,1KG_EUR_AF,PNPT1
434923,2:55869521:C>T,55869521,NM_033109.4,NM_033109.4:c.2069+772G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.651,0.002,1KG_EAS_AF,PNPT1
434924,2:55869552:T>C,55869552,NM_033109.4,NM_033109.4:c.2069+741A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.527,0.0008,1KG_AFR_AF,PNPT1
434925,2:55869557:A>C,55869557,NM_033109.4,NM_033109.4:c.2069+736T>G,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.158,0.0053,1KG_AFR_AF,PNPT1
434926,2:55869568:C>T,55869568,NM_033109.4,NM_033109.4:c.2069+725G>A,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.638,0.3313,1KG_EAS_AF,PNPT1
434927,2:55869604:C>T,55869604,NM_033109.4,NM_033109.4:c.2069+689G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.154,0.001,1KG_SAS_AF,PNPT1
434928,2:55869605:G>A,55869605,NM_033109.4,NM_033109.4:c.2069+688C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.327,0.0015,1KG_AFR_AF,PNPT1
434929,2:55869615:G>A,55869615,NM_033109.4,NM_033109.4:c.2069+678C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.132,\N,\N,PNPT1
434930,2:55869644:T>C,55869644,NM_033109.4,NM_033109.4:c.2069+649A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.63,0.001,1KG_EUR_AF,PNPT1
434931,2:55869657:C>T,55869657,NM_033109.4,NM_033109.4:c.2069+636G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.381,0.001,1KG_SAS_AF,PNPT1
434932,2:55869658:G>C,55869658,NM_033109.4,NM_033109.4:c.2069+635C>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.017,0.003,1KG_AFR_AF,PNPT1
434933,2:55869666:G>A,55869666,NM_033109.4,NM_033109.4:c.2069+627C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.556,0.001,1KG_EUR_AF,PNPT1
434934,2:55869704:G>A,55869704,NM_033109.4,NM_033109.4:c.2069+589C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.029,\N,\N,PNPT1
434935,2:55869728:G>A,55869728,NM_033109.4,NM_033109.4:c.2069+565C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.075,\N,\N,PNPT1
434936,2:55869732:C>T,55869732,NM_033109.4,NM_033109.4:c.2069+561G>A,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.533,0.0716,1KG_SAS_AF,PNPT1
434937,2:55869738:C>A,55869738,NM_033109.4,NM_033109.4:c.2069+555G>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.018,\N,\N,PNPT1
434938,2:55869740:C>CA,55869740,NM_033109.4,NM_033109.4:c.2069+552dup,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.136,0.0061,1KG_SAS_AF,PNPT1
434939,2:55869764:AG>A,55869764,NM_033109.4,NM_033109.4:c.2069+528del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
434940,2:55869767:A>T,55869767,NM_033109.4,NM_033109.4:c.2069+526T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.221,\N,\N,PNPT1
434941,2:55869844:A>G,55869844,NM_033109.4,NM_033109.4:c.2069+449T>C,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.634,0.407,1KG_AFR_AF,PNPT1
434942,2:55869846:A>G,55869846,NM_033109.4,NM_033109.4:c.2069+447T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.168,0.0008,1KG_AFR_AF,PNPT1
434943,2:55869889:T>C,55869889,NM_033109.4,NM_033109.4:c.2069+404A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.242,0.0008,1KG_AFR_AF,PNPT1
434944,2:55869919:A>G,55869919,NM_033109.4,NM_033109.4:c.2069+374T>C,\N,\N,\N,25/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.57,0.0051,1KG_SAS_AF,PNPT1
434945,2:55869921:G>A,55869921,NM_033109.4,NM_033109.4:c.2069+372C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.439,0.001,1KG_EAS_AF,PNPT1
434946,2:55869951:C>G,55869951,NM_033109.4,NM_033109.4:c.2069+342G>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.714,0.0023,1KG_AFR_AF,PNPT1
434947,2:55869964:A>T,55869964,NM_033109.4,NM_033109.4:c.2069+329T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.382,0.002,1KG_SAS_AF,PNPT1
434948,2:55870003:G>A,55870003,NM_033109.4,NM_033109.4:c.2069+290C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.678,0.001,1KG_EUR_AF,PNPT1
434949,2:55870010:G>A,55870010,NM_033109.4,NM_033109.4:c.2069+283C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.292,\N,\N,PNPT1
434950,2:55870032:G>C,55870032,NM_033109.4,NM_033109.4:c.2069+261C>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.08,0.0014,1KG_AMR_AF,PNPT1
434951,2:55870089:A>G,55870089,NM_033109.4,NM_033109.4:c.2069+204T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.852,0.002,1KG_SAS_AF,PNPT1
434952,2:55870095:A>T,55870095,NM_033109.4,NM_033109.4:c.2069+198T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.127,\N,\N,PNPT1
434953,2:55870098:A>T,55870098,NM_033109.4,NM_033109.4:c.2069+195T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.021,0.0008,1KG_AFR_AF,PNPT1
434954,2:55870112:G>A,55870112,NM_033109.4,NM_033109.4:c.2069+181C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.704,\N,\N,PNPT1
434955,2:55870130:G>T,55870130,NM_033109.4,NM_033109.4:c.2069+163C>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.036,0.001,1KG_EAS_AF,PNPT1
434956,2:55870132:A>C,55870132,NM_033109.4,NM_033109.4:c.2069+161T>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.806,0.0014,1KG_AMR_AF,PNPT1
434957,2:55870138:A>T,55870138,NM_033109.4,NM_033109.4:c.2069+155T>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.053,0.001,1KG_EUR_AF,PNPT1
434958,2:55870150:G>A,55870150,NM_033109.4,NM_033109.4:c.2069+143C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.806,\N,\N,PNPT1
434959,2:55870159:G>A,55870159,NM_033109.4,NM_033109.4:c.2069+134C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.307,0.003,1KG_AFR_AF,PNPT1
434960,2:55870171:C>T,55870171,NM_033109.4,NM_033109.4:c.2069+122G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.674,0.001,1KG_EAS_AF,PNPT1
434961,2:55870178:G>A,55870178,NM_033109.4,NM_033109.4:c.2069+115C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.334,\N,\N,PNPT1
434962,2:55870246:C>T,55870246,NM_033109.4,NM_033109.4:c.2069+47G>A,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.706,0.0024966,EVS_AA_AF,PNPT1
434963,2:55870249:TAA>T,55870249,NM_033109.4,NM_033109.4:c.2069+42_2069+43del,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.815,\N,\N,PNPT1
434964,2:55870252:A>G,55870252,NM_033109.4,NM_033109.4:c.2069+41T>C,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.282,0.0000971251,EXAC_AFR_AF,PNPT1
434965,2:55870255:A>C,55870255,NM_033109.4,NM_033109.4:c.2069+38T>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.906,0.0000151281,EXAC_NFE_AF,PNPT1
434966,2:55870257:G>C,55870257,NM_033109.4,NM_033109.4:c.2069+36C>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.212,0.000015124,EXAC_NFE_AF,PNPT1
434967,2:55870258:G>A,55870258,NM_033109.4,NM_033109.4:c.2069+35C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.642,0.000087108,EXAC_AMR_AF,PNPT1
434968,2:55870264:G>A,55870264,NM_033109.4,NM_033109.4:c.2069+29C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.796,0.0000869565,EXAC_AMR_AF,PNPT1
434969,2:55870270:C>A,55870270,NM_033109.4,NM_033109.4:c.2069+23G>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.371,0.000096768,EXAC_AFR_AF,PNPT1
434970,2:55870274:G>A,55870274,NM_033109.4,NM_033109.4:c.2069+19C>T,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.931,0.0000867453,EXAC_AMR_AF,PNPT1
434971,2:55870283:T>C,55870283,NM_033109.4,NM_033109.4:c.2069+10A>G,\N,\N,\N,25/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.94,0.000121536,EXAC_SAS_AF,PNPT1
434972,2:55870286:A>G,55870286,NM_033109.4,NM_033109.4:c.2069+7T>C,\N,\N,\N,25/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.895,0.0000450315,EXAC_NFE_AF,PNPT1
434973,2:55870289:T>C,55870289,NM_033109.4,NM_033109.4:c.2069+4A>G,\N,\N,\N,25/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.57,0.000227066,EVS_AA_AF,PNPT1
434974,2:55870298:T>A,55870298,NM_033109.4,NM_033109.4:c.2064A>T,NP_149100.2:p.Glu688Asp,688,25/28,\N,Unknown significance,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,26.5,0.000345841,EXAC_AMR_AF,PNPT1
434975,2:55870312:C>T,55870312,NM_033109.4,NM_033109.4:c.2050G>A,NP_149100.2:p.Ala684Thr,684,25/28,\N,Likely pathogenic,\N,missense_variant,MODERATE,Nucleic acid-binding| OB-fold;RNA-binding domain| S1;Ribosomal protein S1| RNA-binding domain,\N,35,\N,\N,PNPT1
434976,2:55870313:G>A,55870313,NM_033109.4,NM_033109.4:c.2049C>T,NP_149100.2:p.Thr683=,683,25/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,16.91,0.000232558,EVS_EA_AF,PNPT1
434977,2:55870319:T>C,55870319,NM_033109.4,NM_033109.4:c.2043A>G,NP_149100.2:p.Val681=,681,25/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.94,0.0061,1KG_SAS_AF,PNPT1
434978,2:55870322:T>C,55870322,NM_033109.4,NM_033109.4:c.2040A>G,NP_149100.2:p.Ala680=,680,25/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.7,0.0000149907,EXAC_NFE_AF,PNPT1
434979,2:55870351:G>C,55870351,NM_033109.4,NM_033109.4:c.2014-3C>G,\N,\N,\N,24/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,15.72,\N,\N,PNPT1
434980,2:55870351:G>A,55870351,NM_033109.4,NM_033109.4:c.2014-3C>T,\N,\N,\N,24/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,16.95,0.0000149903,EXAC_NFE_AF,PNPT1
434981,2:55870351:G>GT,55870351,NM_033109.4,NM_033109.4:c.2014-4dup,\N,\N,\N,24/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,16.46,0.0000149903,EXAC_NFE_AF,PNPT1
434982,2:55870352:T>A,55870352,NM_033109.4,NM_033109.4:c.2014-4A>T,\N,\N,\N,24/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.92,0.0000149894,EXAC_NFE_AF,PNPT1
434983,2:55870353:A>C,55870353,NM_033109.4,NM_033109.4:c.2014-5T>G,\N,\N,\N,24/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,13.89,0.0000149894,EXAC_NFE_AF,PNPT1
434984,2:55870355:G>C,55870355,NM_033109.4,NM_033109.4:c.2014-7C>G,\N,\N,\N,24/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,11.01,\N,\N,PNPT1
434985,2:55870367:C>G,55870367,NM_033109.4,NM_033109.4:c.2014-19G>C,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.03,0.0000864006,EXAC_AMR_AF,PNPT1
434986,2:55870370:T>C,55870370,NM_033109.4,NM_033109.4:c.2014-22A>G,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.15,0.0000149916,EXAC_NFE_AF,PNPT1
434987,2:55870371:A>T,55870371,NM_033109.4,NM_033109.4:c.2014-23T>A,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.411,0.0000963391,EXAC_AFR_AF,PNPT1
434988,2:55870373:G>A,55870373,NM_033109.4,NM_033109.4:c.2014-25C>T,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.69,0.0000149898,EXAC_NFE_AF,PNPT1
434989,2:55870375:T>C,55870375,NM_033109.4,NM_033109.4:c.2014-27A>G,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.78,0.00018173,EXAC_SAS_AF,PNPT1
434990,2:55870376:T>C,55870376,NM_033109.4,NM_033109.4:c.2014-28A>G,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.4,0.00110375,EXAC_OTH_AF,PNPT1
434991,2:55870380:A>G,55870380,NM_033109.4,NM_033109.4:c.2014-32T>C,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.13,0.0000605767,EXAC_SAS_AF,PNPT1
434992,2:55870393:A>T,55870393,NM_033109.4,NM_033109.4:c.2014-45T>A,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.423,0.000232558,EVS_EA_AF,PNPT1
434993,2:55870398:A>G,55870398,NM_033109.4,NM_033109.4:c.2014-50T>C,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.758,0.0000605767,EXAC_SAS_AF,PNPT1
434994,2:55870406:A>T,55870406,NM_033109.4,NM_033109.4:c.2013+48T>A,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.763,0.0000150024,EXAC_NFE_AF,PNPT1
434995,2:55870410:C>G,55870410,NM_033109.4,NM_033109.4:c.2013+44G>C,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.751,0.000030012,EXAC_NFE_AF,PNPT1
434996,2:55870412:A>C,55870412,NM_033109.4,NM_033109.4:c.2013+42T>G,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.794,0.000060584,EXAC_SAS_AF,PNPT1
434997,2:55870416:T>C,55870416,NM_033109.4,NM_033109.4:c.2013+38A>G,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.057,0.0000605767,EXAC_SAS_AF,PNPT1
434998,2:55870429:C>A,55870429,NM_033109.4,NM_033109.4:c.2013+25G>T,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.122,0.0000300021,EXAC_NFE_AF,PNPT1
434999,2:55870429:C>T,55870429,NM_033109.4,NM_033109.4:c.2013+25G>A,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.101,0.000226963,EVS_AA_AF,PNPT1
435000,2:55870430:G>A,55870430,NM_033109.4,NM_033109.4:c.2013+24C>T,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.786,0.0045,1KG_AFR_AF,PNPT1
435001,2:55870434:T>C,55870434,NM_033109.4,NM_033109.4:c.2013+20A>G,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.965,0.000115848,EXAC_EAS_AF,PNPT1
435002,2:55870442:A>T,55870442,NM_033109.4,NM_033109.4:c.2013+12T>A,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.223,0.0000299886,EXAC_NFE_AF,PNPT1
435003,2:55870444:C>T,55870444,NM_033109.4,NM_033109.4:c.2013+10G>A,\N,\N,\N,24/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.692,0.000226963,EVS_AA_AF,PNPT1
435004,2:55870447:T>C,55870447,NM_033109.4,NM_033109.4:c.2013+7A>G,\N,\N,\N,24/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,11.97,0.000226963,EVS_AA_AF,PNPT1
435005,2:55870454:A>G,55870454,NM_033109.4,NM_033109.4:c.2013T>C,NP_149100.2:p.Asp671=,671,24/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,10.59,0.00120956,EXAC_FIN_AF,PNPT1
435006,2:55870455:T>A,55870455,NM_033109.4,NM_033109.4:c.2012A>T,NP_149100.2:p.Asp671Val,671,24/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,K Homology domain| type 1,\N,25.4,0.000115554,EXAC_EAS_AF,PNPT1
435007,2:55870455:T>C,55870455,NM_033109.4,NM_033109.4:c.2012A>G,NP_149100.2:p.Asp671Gly,671,24/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,K Homology domain| type 1,\N,25.3,0.000116279,EVS_EA_AF,PNPT1
435008,2:55870463:G>A,55870463,NM_033109.4,NM_033109.4:c.2004C>T,NP_149100.2:p.Cys668=,668,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.86,0.0000149862,EXAC_NFE_AF,PNPT1
435009,2:55870478:G>A,55870478,NM_033109.4,NM_033109.4:c.1989C>T,NP_149100.2:p.Phe663=,663,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,14.49,\N,\N,PNPT1
435010,2:55870485:C>T,55870485,NM_033109.4,NM_033109.4:c.1982G>A,NP_149100.2:p.Arg661Lys,661,24/28,\N,Likely benign,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,14.5,0.000116279,EVS_EA_AF,PNPT1
435011,2:55870487:T>C,55870487,NM_033109.4,NM_033109.4:c.1980A>G,NP_149100.2:p.Ala660=,660,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.907,0.000116279,EVS_EA_AF,PNPT1
435012,2:55870488:G>A,55870488,NM_033109.4,NM_033109.4:c.1979C>T,NP_149100.2:p.Ala660Val,660,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,32,\N,\N,PNPT1
435013,2:55870489:C>A,55870489,NM_033109.4,NM_033109.4:c.1978G>T,NP_149100.2:p.Ala660Ser,660,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,34,0.000115554,EXAC_EAS_AF,PNPT1
435014,2:55870493:A>G,55870493,NM_033109.4,NM_033109.4:c.1974T>C,NP_149100.2:p.His658=,658,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.275,0.000116279,EVS_EA_AF,PNPT1
435015,2:55870494:T>C,55870494,NM_033109.4,NM_033109.4:c.1973A>G,NP_149100.2:p.His658Arg,658,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,16.5,0.001,1KG_SAS_AF,PNPT1
435016,2:55870498:T>C,55870498,NM_033109.4,NM_033109.4:c.1969A>G,NP_149100.2:p.Met657Val,657,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,22,0.0000605767,EXAC_SAS_AF,PNPT1
435017,2:55870499:A>G,55870499,NM_033109.4,NM_033109.4:c.1968T>C,NP_149100.2:p.Ala656=,656,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.824,0.0000299688,EXAC_NFE_AF,PNPT1
435018,2:55870505:G>A,55870505,NM_033109.4,NM_033109.4:c.1962C>T,NP_149100.2:p.Pro654=,654,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.17,0.0000605767,EXAC_SAS_AF,PNPT1
435019,2:55870507:G>A,55870507,NM_033109.4,NM_033109.4:c.1960C>T,NP_149100.2:p.Pro654Ser,654,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,21.9,0.0000149844,EXAC_NFE_AF,PNPT1
435020,2:55870529:C>T,55870529,NM_033109.4,NM_033109.4:c.1938G>A,NP_149100.2:p.Thr646=,646,24/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,18.96,0.00220751,EXAC_OTH_AF,PNPT1
435021,2:55870530:G>A,55870530,NM_033109.4,NM_033109.4:c.1937C>T,NP_149100.2:p.Thr646Met,646,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,23.7,0.000115554,EXAC_EAS_AF,PNPT1
435022,2:55870535:T>C,55870535,NM_033109.4,NM_033109.4:c.1932A>G,NP_149100.2:p.Glu644=,644,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.73,0.0000962835,EXAC_AFR_AF,PNPT1
435023,2:55870536:T>G,55870536,NM_033109.4,NM_033109.4:c.1931A>C,NP_149100.2:p.Glu644Ala,644,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,31,0.0000149876,EXAC_NFE_AF,PNPT1
435024,2:55870538:A>G,55870538,NM_033109.4,NM_033109.4:c.1929T>C,NP_149100.2:p.Asp643=,643,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.35,0.000697674,EVS_EA_AF,PNPT1
435025,2:55870544:C>T,55870544,NM_033109.4,NM_033109.4:c.1923G>A,NP_149100.2:p.Gln641=,641,24/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.24,0.0000449789,EXAC_NFE_AF,PNPT1
435026,2:55870549:TAATAGTTAC>T,55870549,NM_033109.4,NM_033109.4:c.1909_1917del,NP_149100.2:p.Val637_Ile639del,637-639,24/28,\N,Unknown significance,\N,inframe_deletion&splice_region_variant,MODERATE,\N,\N,23.2,\N,\N,PNPT1
435027,2:55870552:T>C,55870552,NM_033109.4,NM_033109.4:c.1915A>G,NP_149100.2:p.Ile639Val,639,24/28,\N,Likely benign,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,12.37,0.0000864902,EXAC_AMR_AF,PNPT1
435028,2:55870554:G>A,55870554,NM_033109.4,NM_033109.4:c.1913C>T,NP_149100.2:p.Thr638Ile,638,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,25.6,0.0000150123,EXAC_NFE_AF,PNPT1
435029,2:55870554:G>C,55870554,NM_033109.4,NM_033109.4:c.1913C>G,NP_149100.2:p.Thr638Ser,638,24/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,16.98,0.000116279,EVS_EA_AF,PNPT1
435030,2:55870560:C>T,55870560,NM_033109.4,NM_033109.4:c.1907G>A,NP_149100.2:p.Gly636Asp,636,24/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,34,0.000285723,EXAC_NFE_AF,PNPT1
435031,2:55870566:A>T,55870566,NM_033109.4,NM_033109.4:c.1907-6T>A,\N,\N,\N,23/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,13.51,0.0000867604,EXAC_AMR_AF,PNPT1
435032,2:55870567:A>G,55870567,NM_033109.4,NM_033109.4:c.1907-7T>C,\N,\N,\N,23/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,13.15,0.000116063,EXAC_EAS_AF,PNPT1
435033,2:55870571:C>G,55870571,NM_033109.4,NM_033109.4:c.1907-11G>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.311,\N,\N,PNPT1
435034,2:55870576:T>G,55870576,NM_033109.4,NM_033109.4:c.1907-16A>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.17,0.001,1KG_SAS_AF,PNPT1
435035,2:55870577:G>A,55870577,NM_033109.4,NM_033109.4:c.1907-17C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.837,0.0000987947,EXAC_AFR_AF,PNPT1
435036,2:55870578:T>TA,55870578,NM_033109.4,NM_033109.4:c.1907-19dup,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.637,0.0000990491,EXAC_AFR_AF,PNPT1
435037,2:55870583:T>C,55870583,NM_033109.4,NM_033109.4:c.1907-23A>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.86,0.0000877193,EXAC_AMR_AF,PNPT1
435038,2:55870585:T>C,55870585,NM_033109.4,NM_033109.4:c.1907-25A>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.12,\N,\N,PNPT1
435039,2:55870587:A>C,55870587,NM_033109.4,NM_033109.4:c.1907-27T>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.06,0.000015444,EXAC_NFE_AF,PNPT1
435040,2:55870591:T>G,55870591,NM_033109.4,NM_033109.4:c.1907-31A>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.84,0.0000155092,EXAC_NFE_AF,PNPT1
435041,2:55870605:C>T,55870605,NM_033109.4,NM_033109.4:c.1907-45G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.126,0.0000644496,EXAC_SAS_AF,PNPT1
435042,2:55870611:G>A,55870611,NM_033109.4,NM_033109.4:c.1907-51C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.897,0.0000646245,EXAC_SAS_AF,PNPT1
435043,2:55870611:G>T,55870611,NM_033109.4,NM_033109.4:c.1907-51C>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.336,0.0000806114,EXAC_NFE_AF,PNPT1
435044,2:55870612:G>T,55870612,NM_033109.4,NM_033109.4:c.1907-52C>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.082,0.0000906125,EXAC_AMR_AF,PNPT1
435045,2:55870630:A>G,55870630,NM_033109.4,NM_033109.4:c.1907-70T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.984,0.001,1KG_EAS_AF,PNPT1
435046,2:55870638:G>C,55870638,NM_033109.4,NM_033109.4:c.1907-78C>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.044,\N,\N,PNPT1
435047,2:55870639:G>T,55870639,NM_033109.4,NM_033109.4:c.1907-79C>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.265,0.003,1KG_EAS_AF,PNPT1
435048,2:55870640:G>A,55870640,NM_033109.4,NM_033109.4:c.1907-80C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.633,0.0008,1KG_AFR_AF,PNPT1
435049,2:55870649:G>A,55870649,NM_033109.4,NM_033109.4:c.1907-89C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.478,\N,\N,PNPT1
435050,2:55870651:G>T,55870651,NM_033109.4,NM_033109.4:c.1907-91C>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.387,0.002,1KG_EAS_AF,PNPT1
435051,2:55870697:T>C,55870697,NM_033109.4,NM_033109.4:c.1907-137A>G,\N,\N,\N,23/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.404,0.2688,1KG_EAS_AF,PNPT1
435052,2:55870698:A>C,55870698,NM_033109.4,NM_033109.4:c.1907-138T>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.916,0.0008,1KG_AFR_AF,PNPT1
435053,2:55870733:A>G,55870733,NM_033109.4,NM_033109.4:c.1907-173T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.539,0.0008,1KG_AFR_AF,PNPT1
435054,2:55870762:C>G,55870762,NM_033109.4,NM_033109.4:c.1907-202G>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.167,0.0015,1KG_AFR_AF,PNPT1
435055,2:55870777:C>T,55870777,NM_033109.4,NM_033109.4:c.1907-217G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.539,0.001,1KG_SAS_AF,PNPT1
435056,2:55870827:A>G,55870827,NM_033109.4,NM_033109.4:c.1907-267T>C,\N,\N,\N,23/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.064,0.407,1KG_AFR_AF,PNPT1
435057,2:55870873:CA>C,55870873,NM_033109.4,NM_033109.4:c.1907-314del,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.083,\N,\N,PNPT1
435058,2:55870886:A>G,55870886,NM_033109.4,NM_033109.4:c.1907-326T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.291,\N,\N,PNPT1
435059,2:55870892:C>T,55870892,NM_033109.4,NM_033109.4:c.1907-332G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.279,\N,\N,PNPT1
435060,2:55870922:A>C,55870922,NM_033109.4,NM_033109.4:c.1907-362T>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.126,0.001,1KG_EAS_AF|1KG_SAS_AF,PNPT1
435061,2:55870925:T>C,55870925,NM_033109.4,NM_033109.4:c.1907-365A>G,\N,\N,\N,23/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.37,0.0486,1KG_EAS_AF,PNPT1
435062,2:55870928:A>G,55870928,NM_033109.4,NM_033109.4:c.1907-368T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.574,0.001,1KG_SAS_AF,PNPT1
435063,2:55870934:G>C,55870934,NM_033109.4,NM_033109.4:c.1907-374C>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.34,\N,\N,PNPT1
435064,2:55870988:C>T,55870988,NM_033109.4,NM_033109.4:c.1907-428G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.662,\N,\N,PNPT1
435065,2:55871051:A>G,55871051,NM_033109.4,NM_033109.4:c.1907-491T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.319,0.0023,1KG_AFR_AF,PNPT1
435066,2:55871112:C>T,55871112,NM_033109.4,NM_033109.4:c.1907-552G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.706,\N,\N,PNPT1
435067,2:55871137:C>G,55871137,NM_033109.4,NM_033109.4:c.1907-577G>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.35,0.001,1KG_EAS_AF,PNPT1
435068,2:55871143:A>C,55871143,NM_033109.4,NM_033109.4:c.1907-583T>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.258,\N,\N,PNPT1
435069,2:55871172:T>C,55871172,NM_033109.4,NM_033109.4:c.1906+600A>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.14,\N,\N,PNPT1
435070,2:55871179:G>A,55871179,NM_033109.4,NM_033109.4:c.1906+593C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.387,0.001,1KG_SAS_AF,PNPT1
435071,2:55871209:A>C,55871209,NM_033109.4,NM_033109.4:c.1906+563T>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.604,0.0008,1KG_AFR_AF,PNPT1
435072,2:55871227:G>A,55871227,NM_033109.4,NM_033109.4:c.1906+545C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.613,\N,\N,PNPT1
435073,2:55871276:A>G,55871276,NM_033109.4,NM_033109.4:c.1906+496T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.798,0.002,1KG_EAS_AF,PNPT1
435074,2:55871285:G>A,55871285,NM_033109.4,NM_033109.4:c.1906+487C>T,\N,\N,\N,23/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.981,0.9803,1KG_AFR_AF,PNPT1
435075,2:55871316:C>T,55871316,NM_033109.4,NM_033109.4:c.1906+456G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.517,\N,\N,PNPT1
435076,2:55871329:A>G,55871329,NM_033109.4,NM_033109.4:c.1906+443T>C,\N,\N,\N,23/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.689,0.1411,1KG_SAS_AF,PNPT1
435077,2:55871344:T>G,55871344,NM_033109.4,NM_033109.4:c.1906+428A>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.312,0.0023,1KG_AFR_AF,PNPT1
435078,2:55871350:A>G,55871350,NM_033109.4,NM_033109.4:c.1906+422T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.63,\N,\N,PNPT1
435079,2:55871351:C>T,55871351,NM_033109.4,NM_033109.4:c.1906+421G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.354,\N,\N,PNPT1
435080,2:55871374:A>AG,55871374,NM_033109.4,NM_033109.4:c.1906+397dup,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435081,2:55871400:T>A,55871400,NM_033109.4,NM_033109.4:c.1906+372A>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.917,\N,\N,PNPT1
435082,2:55871423:TTAAAA>T,55871423,NM_033109.4,NM_033109.4:c.1906+344_1906+348del,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.658,\N,\N,PNPT1
435083,2:55871440:G>A,55871440,NM_033109.4,NM_033109.4:c.1906+332C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.118,\N,\N,PNPT1
435084,2:55871450:G>C,55871450,NM_033109.4,NM_033109.4:c.1906+322C>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.628,\N,\N,PNPT1
435085,2:55871450:G>T,55871450,NM_033109.4,NM_033109.4:c.1906+322C>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.289,\N,\N,PNPT1
435086,2:55871473:A>T,55871473,NM_033109.4,NM_033109.4:c.1906+299T>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.848,0.001,1KG_EAS_AF,PNPT1
435087,2:55871474:T>G,55871474,NM_033109.4,NM_033109.4:c.1906+298A>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.71,0.001,1KG_EUR_AF,PNPT1
435088,2:55871528:G>A,55871528,NM_033109.4,NM_033109.4:c.1906+244C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.274,0.0008,1KG_AFR_AF,PNPT1
435089,2:55871576:T>C,55871576,NM_033109.4,NM_033109.4:c.1906+196A>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.596,0.001,1KG_SAS_AF,PNPT1
435090,2:55871612:A>C,55871612,NM_033109.4,NM_033109.4:c.1906+160T>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.689,0.0008,1KG_AFR_AF,PNPT1
435091,2:55871635:C>T,55871635,NM_033109.4,NM_033109.4:c.1906+137G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.829,0.001,1KG_EAS_AF,PNPT1
435092,2:55871644:C>T,55871644,NM_033109.4,NM_033109.4:c.1906+128G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.765,0.002,1KG_EUR_AF,PNPT1
435093,2:55871672:CA>C,55871672,NM_033109.4,NM_033109.4:c.1906+99del,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435094,2:55871686:T>C,55871686,NM_033109.4,NM_033109.4:c.1906+86A>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.74,\N,\N,PNPT1
435095,2:55871699:A>G,55871699,NM_033109.4,NM_033109.4:c.1906+73T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.914,0.0008,1KG_AFR_AF,PNPT1
435096,2:55871725:T>A,55871725,NM_033109.4,NM_033109.4:c.1906+47A>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.642,0.0000158363,EXAC_NFE_AF,PNPT1
435097,2:55871725:T>C,55871725,NM_033109.4,NM_033109.4:c.1906+47A>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.648,0.0000158363,EXAC_NFE_AF,PNPT1
435098,2:55871726:G>A,55871726,NM_033109.4,NM_033109.4:c.1906+46C>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.58,\N,\N,PNPT1
435099,2:55871728:T>C,55871728,NM_033109.4,NM_033109.4:c.1906+44A>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.894,0.000453926,EVS_AA_AF,PNPT1
435100,2:55871732:G>C,55871732,NM_033109.4,NM_033109.4:c.1906+40C>G,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.445,0.0000158018,EXAC_NFE_AF,PNPT1
435101,2:55871738:A>G,55871738,NM_033109.4,NM_033109.4:c.1906+34T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.726,0.0000157094,EXAC_NFE_AF,PNPT1
435102,2:55871742:A>G,55871742,NM_033109.4,NM_033109.4:c.1906+30T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.952,0.0008,1KG_AFR_AF,PNPT1
435103,2:55871742:A>T,55871742,NM_033109.4,NM_033109.4:c.1906+30T>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.338,0.000226963,EVS_AA_AF,PNPT1
435104,2:55871746:A>T,55871746,NM_033109.4,NM_033109.4:c.1906+26T>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.76,0.000062133,EXAC_NFE_AF,PNPT1
435105,2:55871747:A>G,55871747,NM_033109.4,NM_033109.4:c.1906+25T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.375,0.0000155048,EXAC_NFE_AF,PNPT1
435106,2:55871748:C>A,55871748,NM_033109.4,NM_033109.4:c.1906+24G>T,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.613,0.001,1KG_EUR_AF,PNPT1
435107,2:55871749:C>G,55871749,NM_033109.4,NM_033109.4:c.1906+23G>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.713,0.001,1KG_EUR_AF,PNPT1
435108,2:55871752:A>G,55871752,NM_033109.4,NM_033109.4:c.1906+20T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.813,0.0000153483,EXAC_NFE_AF,PNPT1
435109,2:55871756:T>G,55871756,NM_033109.4,NM_033109.4:c.1906+16A>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.507,0.0000992457,EXAC_AFR_AF,PNPT1
435110,2:55871758:C>T,55871758,NM_033109.4,NM_033109.4:c.1906+14G>A,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.085,0.000174672,EXAC_AMR_AF,PNPT1
435111,2:55871759:A>G,55871759,NM_033109.4,NM_033109.4:c.1906+13T>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.836,0.0000151994,EXAC_NFE_AF,PNPT1
435112,2:55871761:A>AAT,55871761,NM_033109.4,NM_033109.4:c.1906+10_1906+11insAT,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.52,0.000789422,EXAC_AFR_AF,PNPT1
435113,2:55871762:C>G,55871762,NM_033109.4,NM_033109.4:c.1906+10G>C,\N,\N,\N,23/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.279,0.000788955,EXAC_AFR_AF,PNPT1
435114,2:55871769:T>C,55871769,NM_033109.4,NM_033109.4:c.1906+3A>G,\N,\N,\N,23/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,13.4,0.0008,1KG_AFR_AF,PNPT1
435115,2:55871797:G>A,55871797,NM_033109.4,NM_033109.4:c.1881C>T,NP_149100.2:p.Asn627=,627,23/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.63,0.0000607533,EXAC_SAS_AF,PNPT1
435116,2:55871822:T>C,55871822,NM_033109.4,NM_033109.4:c.1856A>G,NP_149100.2:p.Lys619Arg,619,23/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,13.84,0.0000150512,EXAC_NFE_AF,PNPT1
435117,2:55871823:T>C,55871823,NM_033109.4,NM_033109.4:c.1855A>G,NP_149100.2:p.Lys619Glu,619,23/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,20.6,0.000121462,EXAC_SAS_AF,PNPT1
435118,2:55871825:G>T,55871825,NM_033109.4,NM_033109.4:c.1853C>A,NP_149100.2:p.Ala618Glu,618,23/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,22.9,0.0000607238,EXAC_SAS_AF,PNPT1
435119,2:55871828:C>T,55871828,NM_033109.4,NM_033109.4:c.1850G>A,NP_149100.2:p.Arg617Gln,617,23/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,35,0.0000301042,EXAC_NFE_AF,PNPT1
435120,2:55871844:C>A,55871844,NM_033109.4,NM_033109.4:c.1834G>T,NP_149100.2:p.Val612Phe,612,23/28,\N,Unknown significance,\N,missense_variant,MODERATE,K Homology domain;K Homology domain| type 1,\N,35,0.0000607829,EXAC_SAS_AF,PNPT1
435121,2:55871862:C>T,55871862,NM_033109.4,NM_033109.4:c.1823-7G>A,\N,\N,\N,22/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,12.34,0.000304581,EXAC_SAS_AF,PNPT1
435122,2:55871863:G>A,55871863,NM_033109.4,NM_033109.4:c.1823-8C>T,\N,\N,\N,22/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,10.47,0.000226963,EVS_AA_AF,PNPT1
435123,2:55871864:T>C,55871864,NM_033109.4,NM_033109.4:c.1823-9A>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.18,0.000117041,EXAC_EAS_AF,PNPT1
435124,2:55871868:A>G,55871868,NM_033109.4,NM_033109.4:c.1823-13T>C,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.45,0.0000151976,EXAC_NFE_AF,PNPT1
435125,2:55871877:T>C,55871877,NM_033109.4,NM_033109.4:c.1823-22A>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.99,\N,\N,PNPT1
435126,2:55871885:C>A,55871885,NM_033109.4,NM_033109.4:c.1823-30G>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.46,0.000116306,EVS_EA_AF,PNPT1
435127,2:55871889:T>C,55871889,NM_033109.4,NM_033109.4:c.1823-34A>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.315,0.000237473,EXAC_EAS_AF,PNPT1
435128,2:55871898:T>C,55871898,NM_033109.4,NM_033109.4:c.1823-43A>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.197,\N,\N,PNPT1
435129,2:55871900:C>T,55871900,NM_033109.4,NM_033109.4:c.1823-45G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.107,\N,\N,PNPT1
435130,2:55871901:A>G,55871901,NM_033109.4,NM_033109.4:c.1823-46T>C,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.561,0.0008,1KG_AFR_AF,PNPT1
435131,2:55871905:A>C,55871905,NM_033109.4,NM_033109.4:c.1823-50T>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.957,0.0014,1KG_AMR_AF,PNPT1
435132,2:55871920:T>C,55871920,NM_033109.4,NM_033109.4:c.1823-65A>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.764,0.0008,1KG_AFR_AF,PNPT1
435133,2:55871932:AT>A,55871932,NM_033109.4,NM_033109.4:c.1823-78del,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.564,\N,\N,PNPT1
435134,2:55871992:G>C,55871992,NM_033109.4,NM_033109.4:c.1823-137C>G,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.139,0.0307,1KG_SAS_AF,PNPT1
435135,2:55872044:A>AT,55872044,NM_033109.4,NM_033109.4:c.1823-190dup,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435136,2:55872071:T>G,55872071,NM_033109.4,NM_033109.4:c.1823-216A>C,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.386,\N,\N,PNPT1
435137,2:55872075:C>T,55872075,NM_033109.4,NM_033109.4:c.1823-220G>A,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.411,0.0113,1KG_AFR_AF,PNPT1
435138,2:55872076:G>A,55872076,NM_033109.4,NM_033109.4:c.1823-221C>T,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.852,0.0953,1KG_AFR_AF,PNPT1
435139,2:55872081:G>A,55872081,NM_033109.4,NM_033109.4:c.1823-226C>T,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.269,0.0953,1KG_AFR_AF,PNPT1
435140,2:55872093:A>C,55872093,NM_033109.4,NM_033109.4:c.1823-238T>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.461,\N,\N,PNPT1
435141,2:55872094:A>C,55872094,NM_033109.4,NM_033109.4:c.1823-239T>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.163,0.001,1KG_EUR_AF,PNPT1
435142,2:55872122:C>T,55872122,NM_033109.4,NM_033109.4:c.1823-267G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.662,0.0045,1KG_AFR_AF,PNPT1
435143,2:55872144:C>T,55872144,NM_033109.4,NM_033109.4:c.1823-289G>A,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.098,0.0051,1KG_SAS_AF,PNPT1
435144,2:55872157:AT>A,55872157,NM_033109.4,NM_033109.4:c.1823-303del,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.333,0.1716,1KG_EAS_AF,PNPT1
435145,2:55872175:T>G,55872175,NM_033109.4,NM_033109.4:c.1822+309A>C,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.972,\N,\N,PNPT1
435146,2:55872179:G>A,55872179,NM_033109.4,NM_033109.4:c.1822+305C>T,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.829,0.0091,1KG_AFR_AF,PNPT1
435147,2:55872181:C>T,55872181,NM_033109.4,NM_033109.4:c.1822+303G>A,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.894,0.0266,1KG_SAS_AF,PNPT1
435148,2:55872193:T>A,55872193,NM_033109.4,NM_033109.4:c.1822+291A>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.445,\N,\N,PNPT1
435149,2:55872198:G>A,55872198,NM_033109.4,NM_033109.4:c.1822+286C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.07,\N,\N,PNPT1
435150,2:55872204:G>T,55872204,NM_033109.4,NM_033109.4:c.1822+280C>A,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.124,0.0119,1KG_EUR_AF,PNPT1
435151,2:55872244:C>T,55872244,NM_033109.4,NM_033109.4:c.1822+240G>A,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.028,0.0053,1KG_AFR_AF,PNPT1
435152,2:55872251:C>A,55872251,NM_033109.4,NM_033109.4:c.1822+233G>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.588,0.0041,1KG_SAS_AF,PNPT1
435153,2:55872251:C>T,55872251,NM_033109.4,NM_033109.4:c.1822+233G>A,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.433,0.0133,1KG_SAS_AF,PNPT1
435154,2:55872259:T>C,55872259,NM_033109.4,NM_033109.4:c.1822+225A>G,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.661,0.25,1KG_EAS_AF,PNPT1
435155,2:55872308:G>A,55872308,NM_033109.4,NM_033109.4:c.1822+176C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.521,\N,\N,PNPT1
435156,2:55872320:G>A,55872320,NM_033109.4,NM_033109.4:c.1822+164C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.901,\N,\N,PNPT1
435157,2:55872340:T>C,55872340,NM_033109.4,NM_033109.4:c.1822+144A>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.56,0.001,1KG_EUR_AF,PNPT1
435158,2:55872360:C>T,55872360,NM_033109.4,NM_033109.4:c.1822+124G>A,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.063,0.0091,1KG_AFR_AF,PNPT1
435159,2:55872361:G>A,55872361,NM_033109.4,NM_033109.4:c.1822+123C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.82,0.002,1KG_EAS_AF,PNPT1
435160,2:55872372:G>A,55872372,NM_033109.4,NM_033109.4:c.1822+112C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.914,0.001,1KG_SAS_AF,PNPT1
435161,2:55872381:G>A,55872381,NM_033109.4,NM_033109.4:c.1822+103C>T,\N,\N,\N,22/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.746,0.0333,1KG_AFR_AF,PNPT1
435162,2:55872394:T>C,55872394,NM_033109.4,NM_033109.4:c.1822+90A>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.477,0.002,1KG_SAS_AF,PNPT1
435163,2:55872401:C>T,55872401,NM_033109.4,NM_033109.4:c.1822+83G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.449,0.002,1KG_SAS_AF,PNPT1
435164,2:55872406:G>A,55872406,NM_033109.4,NM_033109.4:c.1822+78C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.786,0.001,1KG_EUR_AF,PNPT1
435165,2:55872413:C>G,55872413,NM_033109.4,NM_033109.4:c.1822+71G>C,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.752,\N,\N,PNPT1
435166,2:55872439:G>A,55872439,NM_033109.4,NM_033109.4:c.1822+45C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.388,0.000177746,EXAC_AMR_AF,PNPT1
435167,2:55872441:G>A,55872441,NM_033109.4,NM_033109.4:c.1822+43C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.977,0.0000158333,EXAC_NFE_AF,PNPT1
435168,2:55872444:C>G,55872444,NM_033109.4,NM_033109.4:c.1822+40G>C,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.786,0.000107021,EXAC_AFR_AF,PNPT1
435169,2:55872447:C>T,55872447,NM_033109.4,NM_033109.4:c.1822+37G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.216,\N,\N,PNPT1
435170,2:55872448:C>T,55872448,NM_033109.4,NM_033109.4:c.1822+36G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.999,0.0000648256,EXAC_SAS_AF,PNPT1
435171,2:55872449:G>A,55872449,NM_033109.4,NM_033109.4:c.1822+35C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.697,0.00136302,EVS_AA_AF,PNPT1
435172,2:55872450:C>T,55872450,NM_033109.4,NM_033109.4:c.1822+34G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.27,0.0000646162,EXAC_SAS_AF,PNPT1
435173,2:55872451:G>A,55872451,NM_033109.4,NM_033109.4:c.1822+33C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.539,0.000128617,EXAC_SAS_AF,PNPT1
435174,2:55872456:G>A,55872456,NM_033109.4,NM_033109.4:c.1822+28C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.842,0.0013624,EVS_AA_AF,PNPT1
435175,2:55872457:C>T,55872457,NM_033109.4,NM_033109.4:c.1822+27G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.25,0.00115741,EXAC_OTH_AF,PNPT1
435176,2:55872458:C>T,55872458,NM_033109.4,NM_033109.4:c.1822+26G>A,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.811,0.00010533,EXAC_AFR_AF,PNPT1
435177,2:55872459:G>A,55872459,NM_033109.4,NM_033109.4:c.1822+25C>T,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.549,0.000227066,EVS_AA_AF,PNPT1
435178,2:55872459:G>C,55872459,NM_033109.4,NM_033109.4:c.1822+25C>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.093,0.000015555,EXAC_NFE_AF,PNPT1
435179,2:55872463:A>G,55872463,NM_033109.4,NM_033109.4:c.1822+21T>C,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.289,0.000015425,EXAC_NFE_AF,PNPT1
435180,2:55872475:A>C,55872475,NM_033109.4,NM_033109.4:c.1822+9T>G,\N,\N,\N,22/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,19.14,0.000116604,EXAC_EAS_AF,PNPT1
435181,2:55872480:T>C,55872480,NM_033109.4,NM_033109.4:c.1822+4A>G,\N,\N,\N,22/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,16,\N,\N,PNPT1
435182,2:55872511:A>T,55872511,NM_033109.4,NM_033109.4:c.1795T>A,NP_149100.2:p.Ser599Thr,599,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;K Homology domain| type 1,\N,14.01,0.00113482,EVS_AA_AF,PNPT1
435183,2:55872512:T>C,55872512,NM_033109.4,NM_033109.4:c.1794A>G,NP_149100.2:p.Ala598=,598,22/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.31,\N,\N,PNPT1
435184,2:55872516:C>T,55872516,NM_033109.4,NM_033109.4:c.1790G>A,NP_149100.2:p.Arg597Gln,597,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;K Homology domain| type 1,\N,25.6,0.000060746,EXAC_SAS_AF,PNPT1
435185,2:55872521:T>G,55872521,NM_033109.4,NM_033109.4:c.1785A>C,NP_149100.2:p.Lys595Asn,595,22/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;K Homology domain| type 1;PNPase/RNase PH domain,\N,20.5,0.000116279,EVS_EA_AF,PNPT1
435186,2:55872525:G>A,55872525,NM_033109.4,NM_033109.4:c.1781C>T,NP_149100.2:p.Ser594Leu,594,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;K Homology domain| type 1;PNPase/RNase PH domain,\N,23.7,0.0000150661,EXAC_NFE_AF,PNPT1
435187,2:55872526:A>C,55872526,NM_033109.4,NM_033109.4:c.1780T>G,NP_149100.2:p.Ser594Ala,594,22/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;K Homology domain| type 1;PNPase/RNase PH domain,\N,11.96,0.002,1KG_EAS_AF,PNPT1
435188,2:55872529:T>TA,55872529,NM_033109.4,NM_033109.4:c.1776dup,NP_149100.2:p.Ile593TyrfsTer8,592-593,22/28,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,35,\N,\N,PNPT1
435189,2:55872534:T>G,55872534,NM_033109.4,NM_033109.4:c.1772A>C,NP_149100.2:p.Lys591Thr,591,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,21.3,0.0000150871,EXAC_NFE_AF,PNPT1
435190,2:55872535:T>G,55872535,NM_033109.4,NM_033109.4:c.1771A>C,NP_149100.2:p.Lys591Gln,591,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,18.96,0.001,1KG_SAS_AF,PNPT1
435191,2:55872537:T>C,55872537,NM_033109.4,NM_033109.4:c.1769A>G,NP_149100.2:p.Asn590Ser,590,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,13.73,0.000115902,EXAC_EAS_AF,PNPT1
435192,2:55872538:T>C,55872538,NM_033109.4,NM_033109.4:c.1768A>G,NP_149100.2:p.Asn590Asp,590,22/28,\N,Benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,20.5,0.407,1KG_AFR_AF,PNPT1
435193,2:55872540:A>G,55872540,NM_033109.4,NM_033109.4:c.1766T>C,NP_149100.2:p.Met589Thr,589,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,27.8,0.0000992457,EXAC_AFR_AF,PNPT1
435194,2:55872544:T>A,55872544,NM_033109.4,NM_033109.4:c.1762A>T,NP_149100.2:p.Ile588Phe,588,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,26.1,0.000115982,EXAC_EAS_AF,PNPT1
435195,2:55872548:T>G,55872548,NM_033109.4,NM_033109.4:c.1758A>C,NP_149100.2:p.Leu586Phe,586,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,26.1,0.0000151428,EXAC_NFE_AF,PNPT1
435196,2:55872550:A>G,55872550,NM_033109.4,NM_033109.4:c.1756T>C,NP_149100.2:p.Leu586=,586,22/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.03,\N,\N,PNPT1
435197,2:55872551:T>C,55872551,NM_033109.4,NM_033109.4:c.1755A>G,NP_149100.2:p.Ile585Met,585,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,26.5,0.0000610575,EXAC_SAS_AF,PNPT1
435198,2:55872552:A>G,55872552,NM_033109.4,NM_033109.4:c.1754T>C,NP_149100.2:p.Ile585Thr,585,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,24.6,0.000100241,EXAC_AFR_AF,PNPT1
435199,2:55872553:TCTC>T,55872553,NM_033109.4,NM_033109.4:c.1750_1752del,NP_149100.2:p.Glu584del,584,22/28,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,22.9,\N,\N,PNPT1
435200,2:55872554:C>T,55872554,NM_033109.4,NM_033109.4:c.1752G>A,NP_149100.2:p.Glu584=,584,22/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,14.65,0.0000151911,EXAC_NFE_AF,PNPT1
435201,2:55872557:CT>C,55872557,NM_033109.4,NM_033109.4:c.1748del,NP_149100.2:p.Lys583ArgfsTer7,583,22/28,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,\N,\N,\N,PNPT1
435202,2:55872561:T>C,55872561,NM_033109.4,NM_033109.4:c.1745A>G,NP_149100.2:p.Lys582Arg,582,22/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,18.06,0.0000152662,EXAC_NFE_AF,PNPT1
435203,2:55872574:G>C,55872574,NM_033109.4,NM_033109.4:c.1739-7C>G,\N,\N,\N,21/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,10.69,0.000015526,EXAC_NFE_AF,PNPT1
435204,2:55872576:G>A,55872576,NM_033109.4,NM_033109.4:c.1739-9C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.35,0.0000628062,EXAC_SAS_AF,PNPT1
435205,2:55872576:G>C,55872576,NM_033109.4,NM_033109.4:c.1739-9C>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.1,0.001,1KG_SAS_AF,PNPT1
435206,2:55872584:C>A,55872584,NM_033109.4,NM_033109.4:c.1739-17G>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.309,0.000178253,EXAC_AMR_AF,PNPT1
435207,2:55872588:AATT>A,55872588,NM_033109.4,NM_033109.4:c.1739-24_1739-22del,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.344,\N,\N,PNPT1
435208,2:55872592:A>G,55872592,NM_033109.4,NM_033109.4:c.1739-25T>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.516,0.000449409,EXAC_SAS_AF,PNPT1
435209,2:55872601:T>A,55872601,NM_033109.4,NM_033109.4:c.1739-34A>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.984,0.0000326851,EXAC_NFE_AF,PNPT1
435210,2:55872603:AAAC>A,55872603,NM_033109.4,NM_033109.4:c.1739-39_1739-37del,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.574,0.0000163436,EXAC_NFE_AF,PNPT1
435211,2:55872609:A>G,55872609,NM_033109.4,NM_033109.4:c.1739-42T>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.12,0.0000914746,EXAC_AMR_AF,PNPT1
435212,2:55872613:G>A,55872613,NM_033109.4,NM_033109.4:c.1739-46C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.39,0.0000666223,EXAC_SAS_AF,PNPT1
435213,2:55872625:T>C,55872625,NM_033109.4,NM_033109.4:c.1739-58A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.993,\N,\N,PNPT1
435214,2:55872633:T>G,55872633,NM_033109.4,NM_033109.4:c.1739-66A>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.88,\N,\N,PNPT1
435215,2:55872649:C>T,55872649,NM_033109.4,NM_033109.4:c.1739-82G>A,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.136,0.0317,1KG_AMR_AF,PNPT1
435216,2:55872653:C>A,55872653,NM_033109.4,NM_033109.4:c.1739-86G>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.152,0.001,1KG_EUR_AF,PNPT1
435217,2:55872681:T>G,55872681,NM_033109.4,NM_033109.4:c.1739-114A>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.159,0.001,1KG_SAS_AF,PNPT1
435218,2:55872717:T>C,55872717,NM_033109.4,NM_033109.4:c.1739-150A>G,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.73,0.0716,1KG_SAS_AF,PNPT1
435219,2:55872721:C>T,55872721,NM_033109.4,NM_033109.4:c.1739-154G>A,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.749,\N,\N,PNPT1
435220,2:55872760:T>C,55872760,NM_033109.4,NM_033109.4:c.1739-193A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.891,0.001,1KG_SAS_AF,PNPT1
435221,2:55872773:A>G,55872773,NM_033109.4,NM_033109.4:c.1739-206T>C,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.881,0.0051,1KG_SAS_AF,PNPT1
435222,2:55872802:T>C,55872802,NM_033109.4,NM_033109.4:c.1739-235A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.867,\N,\N,PNPT1
435223,2:55872805:A>G,55872805,NM_033109.4,NM_033109.4:c.1739-238T>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.616,\N,\N,PNPT1
435224,2:55872811:C>T,55872811,NM_033109.4,NM_033109.4:c.1739-244G>A,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.078,0.0076,1KG_AFR_AF,PNPT1
435225,2:55872821:T>C,55872821,NM_033109.4,NM_033109.4:c.1739-254A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.263,\N,\N,PNPT1
435226,2:55872829:C>A,55872829,NM_033109.4,NM_033109.4:c.1739-262G>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.884,0.001,1KG_SAS_AF,PNPT1
435227,2:55872829:C>T,55872829,NM_033109.4,NM_033109.4:c.1739-262G>A,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.02,\N,\N,PNPT1
435228,2:55872867:G>A,55872867,NM_033109.4,NM_033109.4:c.1739-300C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.462,0.001,1KG_EUR_AF,PNPT1
435229,2:55872868:T>C,55872868,NM_033109.4,NM_033109.4:c.1739-301A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.423,0.001,1KG_EAS_AF,PNPT1
435230,2:55872895:G>A,55872895,NM_033109.4,NM_033109.4:c.1739-328C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.962,\N,\N,PNPT1
435231,2:55872913:G>A,55872913,NM_033109.4,NM_033109.4:c.1739-346C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.487,\N,\N,PNPT1
435232,2:55872951:C>G,55872951,NM_033109.4,NM_033109.4:c.1739-384G>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.679,0.001,1KG_EUR_AF,PNPT1
435233,2:55872959:G>T,55872959,NM_033109.4,NM_033109.4:c.1739-392C>A,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.757,0.006,1KG_EUR_AF,PNPT1
435234,2:55872969:ACTT>A,55872969,NM_033109.4,NM_033109.4:c.1739-405_1739-403del,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.887,0.5348,1KG_EUR_AF,PNPT1
435235,2:55872973:C>CT,55872973,NM_033109.4,NM_033109.4:c.1739-407dup,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.013,\N,\N,PNPT1
435236,2:55872973:C>T,55872973,NM_033109.4,NM_033109.4:c.1739-406G>A,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.82,\N,\N,PNPT1
435237,2:55872983:G>C,55872983,NM_033109.4,NM_033109.4:c.1738+411C>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.594,0.0008,1KG_AFR_AF,PNPT1
435238,2:55872988:A>C,55872988,NM_033109.4,NM_033109.4:c.1738+406T>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.317,0.0014,1KG_AMR_AF,PNPT1
435239,2:55873003:C>A,55873003,NM_033109.4,NM_033109.4:c.1738+391G>T,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.793,0.0787,1KG_SAS_AF,PNPT1
435240,2:55873014:G>A,55873014,NM_033109.4,NM_033109.4:c.1738+380C>T,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.014,0.0716,1KG_SAS_AF,PNPT1
435241,2:55873015:C>T,55873015,NM_033109.4,NM_033109.4:c.1738+379G>A,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.182,0.0008,1KG_AFR_AF,PNPT1
435242,2:55873016:G>A,55873016,NM_033109.4,NM_033109.4:c.1738+378C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.493,\N,\N,PNPT1
435243,2:55873020:T>C,55873020,NM_033109.4,NM_033109.4:c.1738+374A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.773,0.0043,1KG_AMR_AF,PNPT1
435244,2:55873025:T>C,55873025,NM_033109.4,NM_033109.4:c.1738+369A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.514,\N,\N,PNPT1
435245,2:55873065:C>A,55873065,NM_033109.4,NM_033109.4:c.1738+329G>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.282,0.0008,1KG_AFR_AF,PNPT1
435246,2:55873065:C>T,55873065,NM_033109.4,NM_033109.4:c.1738+329G>A,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.8,\N,\N,PNPT1
435247,2:55873066:G>A,55873066,NM_033109.4,NM_033109.4:c.1738+328C>T,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.494,0.0129,1KG_EAS_AF,PNPT1
435248,2:55873106:G>T,55873106,NM_033109.4,NM_033109.4:c.1738+288C>A,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.572,0.001,1KG_EAS_AF,PNPT1
435249,2:55873123:C>T,55873123,NM_033109.4,NM_033109.4:c.1738+271G>A,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.406,0.0787,1KG_SAS_AF,PNPT1
435250,2:55873124:G>A,55873124,NM_033109.4,NM_033109.4:c.1738+270C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.509,0.002,1KG_EUR_AF,PNPT1
435251,2:55873129:A>G,55873129,NM_033109.4,NM_033109.4:c.1738+265T>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.435,\N,\N,PNPT1
435252,2:55873138:C>A,55873138,NM_033109.4,NM_033109.4:c.1738+256G>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.07,\N,\N,PNPT1
435253,2:55873188:C>A,55873188,NM_033109.4,NM_033109.4:c.1738+206G>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.721,0.0008,1KG_AFR_AF,PNPT1
435254,2:55873215:G>A,55873215,NM_033109.4,NM_033109.4:c.1738+179C>T,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.45,0.5338,1KG_EUR_AF,PNPT1
435255,2:55873240:G>A,55873240,NM_033109.4,NM_033109.4:c.1738+154C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.063,\N,\N,PNPT1
435256,2:55873241:A>G,55873241,NM_033109.4,NM_033109.4:c.1738+153T>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.895,0.003,1KG_AFR_AF,PNPT1
435257,2:55873280:G>A,55873280,NM_033109.4,NM_033109.4:c.1738+114C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.432,\N,\N,PNPT1
435258,2:55873301:T>A,55873301,NM_033109.4,NM_033109.4:c.1738+93A>T,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.522,0.5338,1KG_EUR_AF,PNPT1
435259,2:55873314:T>C,55873314,NM_033109.4,NM_033109.4:c.1738+80A>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.508,0.001,1KG_EUR_AF,PNPT1
435260,2:55873322:G>A,55873322,NM_033109.4,NM_033109.4:c.1738+72C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.959,\N,\N,PNPT1
435261,2:55873357:G>C,55873357,NM_033109.4,NM_033109.4:c.1738+37C>G,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.74,0.0978006,EXAC_SAS_AF,PNPT1
435262,2:55873358:A>G,55873358,NM_033109.4,NM_033109.4:c.1738+36T>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.737,0.0000458015,EXAC_NFE_AF,PNPT1
435263,2:55873361:AGAAT>A,55873361,NM_033109.4,NM_033109.4:c.1738+29_1738+32del,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.977,0.0000870171,EXAC_AMR_AF,PNPT1
435264,2:55873368:A>C,55873368,NM_033109.4,NM_033109.4:c.1738+26T>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.672,0.000429923,EXAC_SAS_AF,PNPT1
435265,2:55873370:G>A,55873370,NM_033109.4,NM_033109.4:c.1738+24C>T,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.039,0.0000152133,EXAC_NFE_AF,PNPT1
435266,2:55873371:G>C,55873371,NM_033109.4,NM_033109.4:c.1738+23C>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.958,0.000116279,EVS_EA_AF,PNPT1
435267,2:55873373:G>C,55873373,NM_033109.4,NM_033109.4:c.1738+21C>G,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.527,0.0000151994,EXAC_NFE_AF,PNPT1
435268,2:55873376:T>G,55873376,NM_033109.4,NM_033109.4:c.1738+18A>C,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.012,0.0000868357,EXAC_AMR_AF,PNPT1
435269,2:55873378:A>T,55873378,NM_033109.4,NM_033109.4:c.1738+16T>A,\N,\N,\N,21/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.809,0.0000867905,EXAC_AMR_AF,PNPT1
435270,2:55873385:C>G,55873385,NM_033109.4,NM_033109.4:c.1738+9G>C,\N,\N,\N,21/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.101,0.444,1KG_AFR_AF,PNPT1
435271,2:55873404:T>C,55873404,NM_033109.4,NM_033109.4:c.1728A>G,NP_149100.2:p.Gln576=,576,21/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.597,0.0000150675,EXAC_NFE_AF,PNPT1
435272,2:55873407:A>G,55873407,NM_033109.4,NM_033109.4:c.1725T>C,NP_149100.2:p.Ile575=,575,21/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.403,0.00289218,EXAC_EAS_AF,PNPT1
435273,2:55873412:C>T,55873412,NM_033109.4,NM_033109.4:c.1720G>A,NP_149100.2:p.Ala574Thr,574,21/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,27.1,0.0000606722,EXAC_SAS_AF,PNPT1
435274,2:55873414:T>G,55873414,NM_033109.4,NM_033109.4:c.1718A>C,NP_149100.2:p.Glu573Ala,573,21/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,27.7,0.00017313,EXAC_AMR_AF,PNPT1
435275,2:55873416:C>A,55873416,NM_033109.4,NM_033109.4:c.1716G>T,NP_149100.2:p.Met572Ile,572,21/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,23.6,\N,\N,PNPT1
435276,2:55873417:ATCACAATTTTTATTGGTAT>A,55873417,NM_033109.4,NM_033109.4:c.1696_1714del,NP_149100.2:p.Ile566TrpfsTer18,566-572,21/28,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,35,\N,\N,PNPT1
435277,2:55873418:T>C,55873418,NM_033109.4,NM_033109.4:c.1714A>G,NP_149100.2:p.Met572Val,572,21/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,13.49,0.001,1KG_EAS_AF,PNPT1
435278,2:55873426:T>C,55873426,NM_033109.4,NM_033109.4:c.1706A>G,NP_149100.2:p.Lys569Arg,569,21/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,22.3,0.0000300933,EXAC_NFE_AF,PNPT1
435279,2:55873430:T>C,55873430,NM_033109.4,NM_033109.4:c.1702A>G,NP_149100.2:p.Ile568Val,568,21/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,5.919,0.0000966744,EXAC_AFR_AF,PNPT1
435280,2:55873432:G>C,55873432,NM_033109.4,NM_033109.4:c.1700C>G,NP_149100.2:p.Pro567Arg,567,21/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,28.3,0.0000150476,EXAC_NFE_AF,PNPT1
435281,2:55873437:T>A,55873437,NM_033109.4,NM_033109.4:c.1695A>T,NP_149100.2:p.Gly565=,565,21/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,15.13,0.0004245,EXAC_SAS_AF,PNPT1
435282,2:55873440:A>C,55873440,NM_033109.4,NM_033109.4:c.1692T>G,NP_149100.2:p.Pro564=,564,21/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.316,0.0000150476,EXAC_NFE_AF,PNPT1
435283,2:55873440:A>T,55873440,NM_033109.4,NM_033109.4:c.1692T>A,NP_149100.2:p.Pro564=,564,21/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.295,0.0000968804,EXAC_AFR_AF,PNPT1
435284,2:55873445:A>ATCTAAGTATGAAATTCCACTT,55873445,NM_033109.4,NM_033109.4:c.1686_1687insAAGTGGAATTTCATACTTAGA,NP_149100.2:p.Lys562_Leu563insLysTrpAsnPheIleLeuArg,562-563,21/28,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,12.46,\N,\N,PNPT1
435285,2:55873446:T>TCTAAGTATGAAA,55873446,NM_033109.4,NM_033109.4:c.1685_1686insTTTCATACTTAG,NP_149100.2:p.Lys562delinsAsnPheIleLeuArg,562,21/28,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,19.66,\N,\N,PNPT1
435286,2:55873448:T>TCCACTTTTTAAAGC,55873448,NM_033109.4,NM_033109.4:c.1683_1684insGCTTTAAAAAGTGG,NP_149100.2:p.Lys562AlafsTer12,561-562,21/28,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,35,\N,\N,PNPT1
435287,2:55873450:A>AAGCAATATT,55873450,NM_033109.4,NM_033109.4:c.1681_1682insAATATTGCT,NP_149100.2:p.Ile561delinsLysTyrCysPhe,561,21/28,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,15.31,0.00015124,EXAC_FIN_AF,PNPT1
435288,2:55873451:T>TATTTTATA,55873451,NM_033109.4,NM_033109.4:c.1680_1681insTATAAAAT,NP_149100.2:p.Ile561TyrfsTer11,560-561,21/28,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,35,\N,\N,PNPT1
435289,2:55873454:C>A,55873454,NM_033109.4,NM_033109.4:c.1678G>T,NP_149100.2:p.Asp560Tyr,560,21/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,34,\N,\N,PNPT1
435290,2:55873456:G>C,55873456,NM_033109.4,NM_033109.4:c.1676C>G,NP_149100.2:p.Ala559Gly,559,21/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,24.4,0.00113482,EVS_AA_AF,PNPT1
435291,2:55873465:G>A,55873465,NM_033109.4,NM_033109.4:c.1675-8C>T,\N,\N,\N,20/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,0.737,0.0000150503,EXAC_NFE_AF,PNPT1
435292,2:55873471:GT>G,55873471,NM_033109.4,NM_033109.4:c.1675-15del,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.218,0.000463177,EXAC_EAS_AF,PNPT1
435293,2:55873481:T>C,55873481,NM_033109.4,NM_033109.4:c.1675-24A>G,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.925,0.0000150611,EXAC_NFE_AF,PNPT1
435294,2:55873483:T>C,55873483,NM_033109.4,NM_033109.4:c.1675-26A>G,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.022,0.000121315,EXAC_SAS_AF,PNPT1
435295,2:55873492:T>C,55873492,NM_033109.4,NM_033109.4:c.1675-35A>G,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.678,0.00127907,EVS_EA_AF,PNPT1
435296,2:55873500:G>A,55873500,NM_033109.4,NM_033109.4:c.1675-43C>T,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.414,0.0000981354,EXAC_AFR_AF,PNPT1
435297,2:55873508:T>G,55873508,NM_033109.4,NM_033109.4:c.1674+42A>C,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.91,0.0000865951,EXAC_AMR_AF,PNPT1
435298,2:55873514:G>A,55873514,NM_033109.4,NM_033109.4:c.1674+36C>T,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.695,0.000116009,EXAC_EAS_AF,PNPT1
435299,2:55873526:A>G,55873526,NM_033109.4,NM_033109.4:c.1674+24T>C,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.936,0.0000865801,EXAC_AMR_AF,PNPT1
435300,2:55873528:A>G,55873528,NM_033109.4,NM_033109.4:c.1674+22T>C,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.904,0.0000606796,EXAC_SAS_AF,PNPT1
435301,2:55873529:CA>C,55873529,NM_033109.4,NM_033109.4:c.1674+20del,\N,\N,\N,20/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.79,0.00441501,EXAC_OTH_AF,PNPT1
435302,2:55873529:C>G,55873529,NM_033109.4,NM_033109.4:c.1674+21G>C,\N,\N,\N,20/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.057,0.000587659,EXAC_AFR_AF,PNPT1
435303,2:55873549:C>T,55873549,NM_033109.4,NM_033109.4:c.1674+1G>A,\N,\N,\N,20/27,Unknown significance,\N,splice_donor_variant,HIGH,\N,\N,27.4,0.00110375,EXAC_OTH_AF,PNPT1
435304,2:55873567:C>T,55873567,NM_033109.4,NM_033109.4:c.1657G>A,NP_149100.2:p.Gly553Arg,553,20/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,34,0.0000450613,EXAC_NFE_AF,PNPT1
435305,2:55873571:A>G,55873571,NM_033109.4,NM_033109.4:c.1653T>C,NP_149100.2:p.Asn551=,551,20/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.891,\N,\N,PNPT1
435306,2:55873589:G>A,55873589,NM_033109.4,NM_033109.4:c.1635C>T,NP_149100.2:p.Phe545=,545,20/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.69,\N,\N,PNPT1
435307,2:55873592:G>A,55873592,NM_033109.4,NM_033109.4:c.1632C>T,NP_149100.2:p.Asp544=,544,20/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,10.79,0.0232477,EXAC_EAS_AF,PNPT1
435308,2:55873605:T>C,55873605,NM_033109.4,NM_033109.4:c.1619A>G,NP_149100.2:p.Asn540Ser,540,20/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,15.85,0.002,1KG_EUR_AF|1KG_SAS_AF,PNPT1
435309,2:55873621:C>T,55873621,NM_033109.4,NM_033109.4:c.1603G>A,NP_149100.2:p.Gly535Arg,535,20/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.0000989903,EXAC_AFR_AF,PNPT1
435310,2:55873629:A>G,55873629,NM_033109.4,NM_033109.4:c.1603-8T>C,\N,\N,\N,19/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.165,0.0000872296,EXAC_AMR_AF,PNPT1
435311,2:55873644:G>A,55873644,NM_033109.4,NM_033109.4:c.1603-23C>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.759,0.00138087,EXAC_SAS_AF,PNPT1
435312,2:55873646:CAT>C,55873646,NM_033109.4,NM_033109.4:c.1603-27_1603-26del,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.8,0.000126056,EXAC_SAS_AF,PNPT1
435313,2:55873648:T>C,55873648,NM_033109.4,NM_033109.4:c.1603-27A>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.182,0.0000310684,EXAC_NFE_AF,PNPT1
435314,2:55873670:T>G,55873670,NM_033109.4,NM_033109.4:c.1603-49A>C,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.127,0.0000161306,EXAC_NFE_AF,PNPT1
435315,2:55873671:C>T,55873671,NM_033109.4,NM_033109.4:c.1603-50G>A,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.036,0.000125565,EXAC_EAS_AF,PNPT1
435316,2:55873701:A>C,55873701,NM_033109.4,NM_033109.4:c.1603-80T>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.215,\N,\N,PNPT1
435317,2:55873751:T>C,55873751,NM_033109.4,NM_033109.4:c.1603-130A>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.892,\N,\N,PNPT1
435318,2:55873766:C>T,55873766,NM_033109.4,NM_033109.4:c.1603-145G>A,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.175,0.001,1KG_EAS_AF,PNPT1
435319,2:55873852:G>A,55873852,NM_033109.4,NM_033109.4:c.1603-231C>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.933,\N,\N,PNPT1
435320,2:55873894:G>C,55873894,NM_033109.4,NM_033109.4:c.1603-273C>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.892,0.001,1KG_EUR_AF,PNPT1
435321,2:55873908:T>TGTAA,55873908,NM_033109.4,NM_033109.4:c.1603-291_1603-288dup,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435322,2:55873908:TGTAA>T,55873908,NM_033109.4,NM_033109.4:c.1603-291_1603-288del,\N,\N,\N,19/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.289,0.1431,1KG_SAS_AF,PNPT1
435323,2:55873933:GGTAA>G,55873933,NM_033109.4,NM_033109.4:c.1603-316_1603-313del,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435324,2:55873945:T>A,55873945,NM_033109.4,NM_033109.4:c.1603-324A>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.22,0.001,1KG_SAS_AF,PNPT1
435325,2:55873998:C>T,55873998,NM_033109.4,NM_033109.4:c.1603-377G>A,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.123,0.0045,1KG_AFR_AF,PNPT1
435326,2:55874036:C>T,55874036,NM_033109.4,NM_033109.4:c.1603-415G>A,\N,\N,\N,19/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.673,0.0716,1KG_SAS_AF,PNPT1
435327,2:55874158:G>A,55874158,NM_033109.4,NM_033109.4:c.1602+324C>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.453,0.0008,1KG_AFR_AF,PNPT1
435328,2:55874192:G>C,55874192,NM_033109.4,NM_033109.4:c.1602+290C>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.371,0.002,1KG_SAS_AF,PNPT1
435329,2:55874202:C>A,55874202,NM_033109.4,NM_033109.4:c.1602+280G>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.62,\N,\N,PNPT1
435330,2:55874235:A>T,55874235,NM_033109.4,NM_033109.4:c.1602+247T>A,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.869,0.001,1KG_EAS_AF,PNPT1
435331,2:55874245:G>A,55874245,NM_033109.4,NM_033109.4:c.1602+237C>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.626,\N,\N,PNPT1
435332,2:55874261:A>G,55874261,NM_033109.4,NM_033109.4:c.1602+221T>C,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.701,\N,\N,PNPT1
435333,2:55874292:G>C,55874292,NM_033109.4,NM_033109.4:c.1602+190C>G,\N,\N,\N,19/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.431,0.0112,1KG_SAS_AF,PNPT1
435334,2:55874293:A>T,55874293,NM_033109.4,NM_033109.4:c.1602+189T>A,\N,\N,\N,19/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.904,0.0953,1KG_AFR_AF,PNPT1
435335,2:55874321:G>A,55874321,NM_033109.4,NM_033109.4:c.1602+161C>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.525,\N,\N,PNPT1
435336,2:55874332:T>C,55874332,NM_033109.4,NM_033109.4:c.1602+150A>G,\N,\N,\N,19/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.283,0.0869,1KG_SAS_AF,PNPT1
435337,2:55874352:G>T,55874352,NM_033109.4,NM_033109.4:c.1602+130C>A,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.171,0.001,1KG_EAS_AF,PNPT1
435338,2:55874356:T>G,55874356,NM_033109.4,NM_033109.4:c.1602+126A>C,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.253,\N,\N,PNPT1
435339,2:55874364:G>T,55874364,NM_033109.4,NM_033109.4:c.1602+118C>A,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.121,\N,\N,PNPT1
435340,2:55874370:G>C,55874370,NM_033109.4,NM_033109.4:c.1602+112C>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.33,0.0014,1KG_AMR_AF,PNPT1
435341,2:55874374:G>C,55874374,NM_033109.4,NM_033109.4:c.1602+108C>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.132,\N,\N,PNPT1
435342,2:55874389:T>C,55874389,NM_033109.4,NM_033109.4:c.1602+93A>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.961,0.0023,1KG_AFR_AF,PNPT1
435343,2:55874391:G>C,55874391,NM_033109.4,NM_033109.4:c.1602+91C>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.143,\N,\N,PNPT1
435344,2:55874432:T>C,55874432,NM_033109.4,NM_033109.4:c.1602+50A>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.363,0.001,1KG_EUR_AF,PNPT1
435345,2:55874435:ATTTT>A,55874435,NM_033109.4,NM_033109.4:c.1602+43_1602+46del,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.455,0.000133797,EXAC_AFR_AF,PNPT1
435346,2:55874435:A>C,55874435,NM_033109.4,NM_033109.4:c.1602+47T>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.318,0.000018606,EXAC_NFE_AF,PNPT1
435347,2:55874438:T>G,55874438,NM_033109.4,NM_033109.4:c.1602+44A>C,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.785,\N,\N,PNPT1
435348,2:55874448:A>G,55874448,NM_033109.4,NM_033109.4:c.1602+34T>C,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.503,\N,\N,PNPT1
435349,2:55874468:G>A,55874468,NM_033109.4,NM_033109.4:c.1602+14C>T,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.725,0.003,1KG_EAS_AF,PNPT1
435350,2:55874468:G>C,55874468,NM_033109.4,NM_033109.4:c.1602+14C>G,\N,\N,\N,19/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.581,\N,\N,PNPT1
435351,2:55874480:G>A,55874480,NM_033109.4,NM_033109.4:c.1602+2C>T,\N,\N,\N,19/27,Unknown significance,\N,splice_donor_variant,HIGH,\N,\N,26,0.0000150024,EXAC_NFE_AF,PNPT1
435352,2:55874486:A>G,55874486,NM_033109.4,NM_033109.4:c.1598T>C,NP_149100.2:p.Ile533Thr,533,19/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.7,\N,\N,PNPT1
435353,2:55874492:G>C,55874492,NM_033109.4,NM_033109.4:c.1592C>G,NP_149100.2:p.Thr531Arg,531,19/28,\N,Likely pathogenic,Combined oxidative phosphorylation deficiency 13,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.000116279,EVS_EA_AF,PNPT1
435354,2:55874494:C>T,55874494,NM_033109.4,NM_033109.4:c.1590G>A,NP_149100.2:p.Leu530=,530,19/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,16.5,0.0000964878,EXAC_AFR_AF,PNPT1
435355,2:55874497:C>T,55874497,NM_033109.4,NM_033109.4:c.1587G>A,NP_149100.2:p.Leu529=,529,19/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,16.13,0.0000149912,EXAC_NFE_AF,PNPT1
435356,2:55874501:C>T,55874501,NM_033109.4,NM_033109.4:c.1583G>A,NP_149100.2:p.Arg528His,528,19/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,25.6,0.000116279,EVS_EA_AF,PNPT1
435357,2:55874502:G>A,55874502,NM_033109.4,NM_033109.4:c.1582C>T,NP_149100.2:p.Arg528Cys,528,19/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,24.7,0.0000605767,EXAC_SAS_AF,PNPT1
435358,2:55874506:ATCT>A,55874506,NM_033109.4,NM_033109.4:c.1575_1577del,NP_149100.2:p.Glu525del,525-526,19/28,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,22.1,0.0000149876,EXAC_NFE_AF,PNPT1
435359,2:55874518:A>T,55874518,NM_033109.4,NM_033109.4:c.1566T>A,NP_149100.2:p.Gly522=,522,19/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.401,0.0000749333,EXAC_NFE_AF,PNPT1
435360,2:55874519:C>A,55874519,NM_033109.4,NM_033109.4:c.1565G>T,NP_149100.2:p.Gly522Val,522,19/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,15.05,0.000151194,EXAC_FIN_AF,PNPT1
435361,2:55874519:C>G,55874519,NM_033109.4,NM_033109.4:c.1565G>C,NP_149100.2:p.Gly522Ala,522,19/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,5.394,0.0000605694,EXAC_SAS_AF,PNPT1
435362,2:55874521:C>T,55874521,NM_033109.4,NM_033109.4:c.1563G>A,NP_149100.2:p.Lys521=,521,19/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,17.89,\N,\N,PNPT1
435363,2:55874522:T>G,55874522,NM_033109.4,NM_033109.4:c.1562A>C,NP_149100.2:p.Lys521Thr,521,19/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,18.05,0.000484555,EXAC_SAS_AF,PNPT1
435364,2:55874531:T>C,55874531,NM_033109.4,NM_033109.4:c.1553A>G,NP_149100.2:p.Asp518Gly,518,19/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,14.43,0.0000149858,EXAC_NFE_AF,PNPT1
435365,2:55874532:C>T,55874532,NM_033109.4,NM_033109.4:c.1552G>A,NP_149100.2:p.Asp518Asn,518,19/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,4.646,0.000116279,EVS_EA_AF,PNPT1
435366,2:55874533:G>A,55874533,NM_033109.4,NM_033109.4:c.1551C>T,NP_149100.2:p.Thr517=,517,19/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.014,0.00110132,EXAC_OTH_AF,PNPT1
435367,2:55874558:A>G,55874558,NM_033109.4,NM_033109.4:c.1526T>C,NP_149100.2:p.Val509Ala,509,19/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,29.2,0.0000149894,EXAC_NFE_AF,PNPT1
435368,2:55874559:C>T,55874559,NM_033109.4,NM_033109.4:c.1525G>A,NP_149100.2:p.Val509Ile,509,19/28,\N,Likely pathogenic,Combined oxidative phosphorylation deficiency 13,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.2,0.00139535,EVS_EA_AF,PNPT1
435369,2:55874560:G>A,55874560,NM_033109.4,NM_033109.4:c.1524C>T,NP_149100.2:p.Gly508=,508,19/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,16.45,0.000060584,EXAC_SAS_AF,PNPT1
435370,2:55874560:G>T,55874560,NM_033109.4,NM_033109.4:c.1524C>A,NP_149100.2:p.Gly508=,508,19/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.05,\N,\N,PNPT1
435371,2:55874565:C>A,55874565,NM_033109.4,NM_033109.4:c.1519G>T,NP_149100.2:p.Ala507Ser,507,19/28,\N,Likely pathogenic,VARIANT OF UNKNOWN SIGNIFICANCE,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,26.7,0.000404761,EXAC_NFE_AF,PNPT1
435372,2:55874568:C>T,55874568,NM_033109.4,NM_033109.4:c.1516G>A,NP_149100.2:p.Val506Ile,506,19/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,25.7,0.0000605914,EXAC_SAS_AF,PNPT1
435373,2:55874573:G>A,55874573,NM_033109.4,NM_033109.4:c.1511C>T,NP_149100.2:p.Ser504Phe,504,19/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.0000149939,EXAC_NFE_AF,PNPT1
435374,2:55874580:T>C,55874580,NM_033109.4,NM_033109.4:c.1504A>G,NP_149100.2:p.Ile502Val,502,19/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,10.3,0.0000149979,EXAC_NFE_AF,PNPT1
435375,2:55874586:C>A,55874586,NM_033109.4,NM_033109.4:c.1498G>T,NP_149100.2:p.Val500Phe,500,19/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.0000150042,EXAC_NFE_AF,PNPT1
435376,2:55874592:T>A,55874592,NM_033109.4,NM_033109.4:c.1496-4A>T,\N,\N,\N,18/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.74,0.0000150087,EXAC_NFE_AF,PNPT1
435377,2:55874595:T>C,55874595,NM_033109.4,NM_033109.4:c.1496-7A>G,\N,\N,\N,18/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,7.083,0.0000969932,EXAC_AFR_AF,PNPT1
435378,2:55874598:G>A,55874598,NM_033109.4,NM_033109.4:c.1496-10C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.84,0.000348837,EVS_EA_AF,PNPT1
435379,2:55874612:T>C,55874612,NM_033109.4,NM_033109.4:c.1496-24A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.933,0.000116198,EXAC_EAS_AF,PNPT1
435380,2:55874617:G>C,55874617,NM_033109.4,NM_033109.4:c.1496-29C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.157,0.0000150698,EXAC_NFE_AF,PNPT1
435381,2:55874620:AT>A,55874620,NM_033109.4,NM_033109.4:c.1496-33del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.83,0.0000150789,EXAC_NFE_AF,PNPT1
435382,2:55874622:G>A,55874622,NM_033109.4,NM_033109.4:c.1496-34C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.758,0.000116469,EXAC_EAS_AF,PNPT1
435383,2:55874633:C>T,55874633,NM_033109.4,NM_033109.4:c.1496-45G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.309,0.0000152351,EXAC_NFE_AF,PNPT1
435384,2:55874635:T>A,55874635,NM_033109.4,NM_033109.4:c.1496-47A>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.282,\N,\N,PNPT1
435385,2:55874655:C>A,55874655,NM_033109.4,NM_033109.4:c.1496-67G>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.896,0.0228,1KG_EAS_AF,PNPT1
435386,2:55874657:A>AT,55874657,NM_033109.4,NM_033109.4:c.1496-70dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.447,\N,\N,PNPT1
435387,2:55874673:G>T,55874673,NM_033109.4,NM_033109.4:c.1496-85C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.066,\N,\N,PNPT1
435388,2:55874762:C>G,55874762,NM_033109.4,NM_033109.4:c.1496-174G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.01,0.0008,1KG_AFR_AF,PNPT1
435389,2:55874790:G>A,55874790,NM_033109.4,NM_033109.4:c.1496-202C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.103,\N,\N,PNPT1
435390,2:55874811:C>T,55874811,NM_033109.4,NM_033109.4:c.1496-223G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.301,0.4054,1KG_AFR_AF,PNPT1
435391,2:55874843:G>C,55874843,NM_033109.4,NM_033109.4:c.1496-255C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.63,0.0043,1KG_AMR_AF,PNPT1
435392,2:55874923:G>A,55874923,NM_033109.4,NM_033109.4:c.1496-335C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.247,\N,\N,PNPT1
435393,2:55874938:G>A,55874938,NM_033109.4,NM_033109.4:c.1496-350C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.466,0.0014,1KG_AMR_AF,PNPT1
435394,2:55874950:G>A,55874950,NM_033109.4,NM_033109.4:c.1496-362C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.433,\N,\N,PNPT1
435395,2:55875009:G>A,55875009,NM_033109.4,NM_033109.4:c.1496-421C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.331,0.001,1KG_SAS_AF,PNPT1
435396,2:55875025:T>A,55875025,NM_033109.4,NM_033109.4:c.1496-437A>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.377,\N,\N,PNPT1
435397,2:55875049:C>T,55875049,NM_033109.4,NM_033109.4:c.1496-461G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.971,0.001,1KG_SAS_AF,PNPT1
435398,2:55875050:G>A,55875050,NM_033109.4,NM_033109.4:c.1496-462C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.698,0.001,1KG_EAS_AF,PNPT1
435399,2:55875058:T>C,55875058,NM_033109.4,NM_033109.4:c.1496-470A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.76,\N,\N,PNPT1
435400,2:55875094:C>T,55875094,NM_033109.4,NM_033109.4:c.1496-506G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.805,\N,\N,PNPT1
435401,2:55875119:C>T,55875119,NM_033109.4,NM_033109.4:c.1496-531G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.973,\N,\N,PNPT1
435402,2:55875120:T>TG,55875120,NM_033109.4,NM_033109.4:c.1496-533_1496-532insC,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435403,2:55875122:T>C,55875122,NM_033109.4,NM_033109.4:c.1496-534A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.394,\N,\N,PNPT1
435404,2:55875157:G>A,55875157,NM_033109.4,NM_033109.4:c.1496-569C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.127,\N,\N,PNPT1
435405,2:55875157:G>C,55875157,NM_033109.4,NM_033109.4:c.1496-569C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.032,\N,\N,PNPT1
435406,2:55875161:G>C,55875161,NM_033109.4,NM_033109.4:c.1496-573C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.188,0.0029,1KG_AMR_AF,PNPT1
435407,2:55875165:G>A,55875165,NM_033109.4,NM_033109.4:c.1496-577C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.588,0.0015,1KG_AFR_AF,PNPT1
435408,2:55875211:C>G,55875211,NM_033109.4,NM_033109.4:c.1496-623G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.623,0.0008,1KG_AFR_AF,PNPT1
435409,2:55875223:A>G,55875223,NM_033109.4,NM_033109.4:c.1496-635T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.411,\N,\N,PNPT1
435410,2:55875244:C>T,55875244,NM_033109.4,NM_033109.4:c.1496-656G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.768,0.001,1KG_SAS_AF,PNPT1
435411,2:55875260:A>G,55875260,NM_033109.4,NM_033109.4:c.1496-672T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.613,\N,\N,PNPT1
435412,2:55875261:T>C,55875261,NM_033109.4,NM_033109.4:c.1496-673A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.842,0.001,1KG_EUR_AF,PNPT1
435413,2:55875273:T>G,55875273,NM_033109.4,NM_033109.4:c.1496-685A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.951,0.0014,1KG_AMR_AF,PNPT1
435414,2:55875302:C>T,55875302,NM_033109.4,NM_033109.4:c.1496-714G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.96,\N,\N,PNPT1
435415,2:55875321:A>G,55875321,NM_033109.4,NM_033109.4:c.1496-733T>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.806,0.0179,1KG_EAS_AF,PNPT1
435416,2:55875324:A>G,55875324,NM_033109.4,NM_033109.4:c.1496-736T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.758,\N,\N,PNPT1
435417,2:55875331:G>A,55875331,NM_033109.4,NM_033109.4:c.1496-743C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.245,\N,\N,PNPT1
435418,2:55875349:G>A,55875349,NM_033109.4,NM_033109.4:c.1496-761C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.641,\N,\N,PNPT1
435419,2:55875363:A>T,55875363,NM_033109.4,NM_033109.4:c.1496-775T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.872,\N,\N,PNPT1
435420,2:55875368:C>T,55875368,NM_033109.4,NM_033109.4:c.1496-780G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.131,0.4054,1KG_AFR_AF,PNPT1
435421,2:55875415:G>A,55875415,NM_033109.4,NM_033109.4:c.1496-827C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.553,\N,\N,PNPT1
435422,2:55875441:C>T,55875441,NM_033109.4,NM_033109.4:c.1496-853G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.294,\N,\N,PNPT1
435423,2:55875451:T>C,55875451,NM_033109.4,NM_033109.4:c.1496-863A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.493,0.0008,1KG_AFR_AF,PNPT1
435424,2:55875496:G>A,55875496,NM_033109.4,NM_033109.4:c.1496-908C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.252,0.0029,1KG_AMR_AF,PNPT1
435425,2:55875506:T>C,55875506,NM_033109.4,NM_033109.4:c.1496-918A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.442,0.0169,1KG_EAS_AF,PNPT1
435426,2:55875514:CAAA>C,55875514,NM_033109.4,NM_033109.4:c.1496-929_1496-927del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435427,2:55875525:T>A,55875525,NM_033109.4,NM_033109.4:c.1496-937A>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.347,0.0787,1KG_SAS_AF,PNPT1
435428,2:55875567:A>G,55875567,NM_033109.4,NM_033109.4:c.1496-979T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.037,0.0014,1KG_AMR_AF,PNPT1
435429,2:55875568:T>C,55875568,NM_033109.4,NM_033109.4:c.1496-980A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.763,\N,\N,PNPT1
435430,2:55875594:G>A,55875594,NM_033109.4,NM_033109.4:c.1496-1006C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.518,\N,\N,PNPT1
435431,2:55875605:T>C,55875605,NM_033109.4,NM_033109.4:c.1496-1017A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.853,\N,\N,PNPT1
435432,2:55875616:A>G,55875616,NM_033109.4,NM_033109.4:c.1496-1028T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.343,0.0045,1KG_AFR_AF,PNPT1
435433,2:55875655:C>CAATTT,55875655,NM_033109.4,NM_033109.4:c.1496-1072_1496-1068dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435434,2:55875655:CAATTT>C,55875655,NM_033109.4,NM_033109.4:c.1496-1072_1496-1068del,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.475,0.1268,1KG_SAS_AF,PNPT1
435435,2:55875674:T>C,55875674,NM_033109.4,NM_033109.4:c.1496-1086A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.367,0.0144,1KG_AFR_AF,PNPT1
435436,2:55875683:T>C,55875683,NM_033109.4,NM_033109.4:c.1496-1095A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.414,\N,\N,PNPT1
435437,2:55875691:A>C,55875691,NM_033109.4,NM_033109.4:c.1496-1103T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.754,\N,\N,PNPT1
435438,2:55875692:CTTG>C,55875692,NM_033109.4,NM_033109.4:c.1496-1107_1496-1105del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435439,2:55875718:A>G,55875718,NM_033109.4,NM_033109.4:c.1496-1130T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.062,0.0014,1KG_AMR_AF,PNPT1
435440,2:55875719:CTA>C,55875719,NM_033109.4,NM_033109.4:c.1496-1133_1496-1132del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435441,2:55875728:G>A,55875728,NM_033109.4,NM_033109.4:c.1496-1140C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.2,\N,\N,PNPT1
435442,2:55875746:A>G,55875746,NM_033109.4,NM_033109.4:c.1496-1158T>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.735,0.4054,1KG_AFR_AF,PNPT1
435443,2:55875773:A>T,55875773,NM_033109.4,NM_033109.4:c.1496-1185T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.93,\N,\N,PNPT1
435444,2:55875788:T>C,55875788,NM_033109.4,NM_033109.4:c.1496-1200A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.781,\N,\N,PNPT1
435445,2:55875802:G>C,55875802,NM_033109.4,NM_033109.4:c.1496-1214C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.058,0.0015,1KG_AFR_AF,PNPT1
435446,2:55875813:A>G,55875813,NM_033109.4,NM_033109.4:c.1496-1225T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.085,0.003,1KG_EUR_AF,PNPT1
435447,2:55875838:C>T,55875838,NM_033109.4,NM_033109.4:c.1496-1250G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.797,0.0068,1KG_AFR_AF,PNPT1
435448,2:55875962:C>A,55875962,NM_033109.4,NM_033109.4:c.1496-1374G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.671,\N,\N,PNPT1
435449,2:55875962:C>T,55875962,NM_033109.4,NM_033109.4:c.1496-1374G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.626,0.0015,1KG_AFR_AF,PNPT1
435450,2:55875966:A>G,55875966,NM_033109.4,NM_033109.4:c.1496-1378T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.138,\N,\N,PNPT1
435451,2:55876007:C>T,55876007,NM_033109.4,NM_033109.4:c.1496-1419G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.47,\N,\N,PNPT1
435452,2:55876037:T>C,55876037,NM_033109.4,NM_033109.4:c.1496-1449A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.843,0.0008,1KG_AFR_AF,PNPT1
435453,2:55876050:G>GT,55876050,NM_033109.4,NM_033109.4:c.1496-1463dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435454,2:55876062:A>G,55876062,NM_033109.4,NM_033109.4:c.1496-1474T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.39,\N,\N,PNPT1
435455,2:55876074:T>C,55876074,NM_033109.4,NM_033109.4:c.1496-1486A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.21,0.0008,1KG_AFR_AF,PNPT1
435456,2:55876085:T>C,55876085,NM_033109.4,NM_033109.4:c.1496-1497A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.325,\N,\N,PNPT1
435457,2:55876093:T>C,55876093,NM_033109.4,NM_033109.4:c.1496-1505A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.995,0.0031,1KG_SAS_AF,PNPT1
435458,2:55876138:C>A,55876138,NM_033109.4,NM_033109.4:c.1496-1550G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.628,0.001,1KG_EAS_AF,PNPT1
435459,2:55876138:C>T,55876138,NM_033109.4,NM_033109.4:c.1496-1550G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.66,\N,\N,PNPT1
435460,2:55876163:T>C,55876163,NM_033109.4,NM_033109.4:c.1496-1575A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.556,0.008,1KG_EUR_AF,PNPT1
435461,2:55876196:T>C,55876196,NM_033109.4,NM_033109.4:c.1496-1608A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.612,0.001,1KG_EAS_AF,PNPT1
435462,2:55876212:T>C,55876212,NM_033109.4,NM_033109.4:c.1496-1624A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.638,\N,\N,PNPT1
435463,2:55876243:A>T,55876243,NM_033109.4,NM_033109.4:c.1496-1655T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.18,0.0008,1KG_AFR_AF,PNPT1
435464,2:55876298:G>A,55876298,NM_033109.4,NM_033109.4:c.1496-1710C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.789,\N,\N,PNPT1
435465,2:55876306:G>A,55876306,NM_033109.4,NM_033109.4:c.1496-1718C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.527,\N,\N,PNPT1
435466,2:55876391:T>C,55876391,NM_033109.4,NM_033109.4:c.1496-1803A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.313,0.0079,1KG_EAS_AF,PNPT1
435467,2:55876437:G>C,55876437,NM_033109.4,NM_033109.4:c.1496-1849C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.202,\N,\N,PNPT1
435468,2:55876458:T>C,55876458,NM_033109.4,NM_033109.4:c.1496-1870A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.25,\N,\N,PNPT1
435469,2:55876470:C>A,55876470,NM_033109.4,NM_033109.4:c.1496-1882G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.238,\N,\N,PNPT1
435470,2:55876511:C>T,55876511,NM_033109.4,NM_033109.4:c.1496-1923G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.263,0.127,1KG_EAS_AF,PNPT1
435471,2:55876556:T>C,55876556,NM_033109.4,NM_033109.4:c.1496-1968A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.327,0.0041,1KG_SAS_AF,PNPT1
435472,2:55876572:A>G,55876572,NM_033109.4,NM_033109.4:c.1496-1984T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.01,\N,\N,PNPT1
435473,2:55876585:T>C,55876585,NM_033109.4,NM_033109.4:c.1496-1997A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.444,\N,\N,PNPT1
435474,2:55876609:C>T,55876609,NM_033109.4,NM_033109.4:c.1496-2021G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.261,0.0716,1KG_SAS_AF,PNPT1
435475,2:55876652:A>T,55876652,NM_033109.4,NM_033109.4:c.1496-2064T>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.346,0.0068,1KG_AFR_AF,PNPT1
435476,2:55876677:T>C,55876677,NM_033109.4,NM_033109.4:c.1496-2089A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.142,0.001,1KG_SAS_AF,PNPT1
435477,2:55876685:T>C,55876685,NM_033109.4,NM_033109.4:c.1496-2097A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.685,0.0556,1KG_EAS_AF,PNPT1
435478,2:55876708:C>G,55876708,NM_033109.4,NM_033109.4:c.1496-2120G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.117,\N,\N,PNPT1
435479,2:55876714:T>C,55876714,NM_033109.4,NM_033109.4:c.1496-2126A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.465,\N,\N,PNPT1
435480,2:55876716:G>C,55876716,NM_033109.4,NM_033109.4:c.1496-2128C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.251,\N,\N,PNPT1
435481,2:55876726:C>G,55876726,NM_033109.4,NM_033109.4:c.1496-2138G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.693,\N,\N,PNPT1
435482,2:55876726:C>T,55876726,NM_033109.4,NM_033109.4:c.1496-2138G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.476,0.002,1KG_SAS_AF,PNPT1
435483,2:55876742:C>T,55876742,NM_033109.4,NM_033109.4:c.1496-2154G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.364,\N,\N,PNPT1
435484,2:55876835:A>T,55876835,NM_033109.4,NM_033109.4:c.1496-2247T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.81,0.004,1KG_EAS_AF,PNPT1
435485,2:55876844:T>C,55876844,NM_033109.4,NM_033109.4:c.1496-2256A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.124,0.0014,1KG_AMR_AF,PNPT1
435486,2:55876879:T>C,55876879,NM_033109.4,NM_033109.4:c.1496-2291A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.726,0.0031,1KG_SAS_AF,PNPT1
435487,2:55876889:A>C,55876889,NM_033109.4,NM_033109.4:c.1496-2301T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.113,0.0008,1KG_AFR_AF,PNPT1
435488,2:55876920:A>G,55876920,NM_033109.4,NM_033109.4:c.1496-2332T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.319,0.002,1KG_EUR_AF,PNPT1
435489,2:55876929:G>C,55876929,NM_033109.4,NM_033109.4:c.1496-2341C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.254,0.001,1KG_EAS_AF,PNPT1
435490,2:55876935:G>A,55876935,NM_033109.4,NM_033109.4:c.1496-2347C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.201,\N,\N,PNPT1
435491,2:55876962:C>G,55876962,NM_033109.4,NM_033109.4:c.1496-2374G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.819,\N,\N,PNPT1
435492,2:55876978:T>C,55876978,NM_033109.4,NM_033109.4:c.1496-2390A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.047,0.001,1KG_EUR_AF,PNPT1
435493,2:55876985:C>A,55876985,NM_033109.4,NM_033109.4:c.1496-2397G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.851,0.001,1KG_EAS_AF,PNPT1
435494,2:55877009:C>G,55877009,NM_033109.4,NM_033109.4:c.1496-2421G>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.894,0.0061,1KG_SAS_AF,PNPT1
435495,2:55877010:A>C,55877010,NM_033109.4,NM_033109.4:c.1496-2422T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.529,\N,\N,PNPT1
435496,2:55877033:C>T,55877033,NM_033109.4,NM_033109.4:c.1496-2445G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.875,0.001,1KG_SAS_AF,PNPT1
435497,2:55877067:G>A,55877067,NM_033109.4,NM_033109.4:c.1496-2479C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,14.1,0.0061,1KG_AFR_AF,PNPT1
435498,2:55877074:G>C,55877074,NM_033109.4,NM_033109.4:c.1496-2486C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.484,\N,\N,PNPT1
435499,2:55877094:T>C,55877094,NM_033109.4,NM_033109.4:c.1496-2506A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.413,0.004,1KG_EAS_AF,PNPT1
435500,2:55877108:C>G,55877108,NM_033109.4,NM_033109.4:c.1496-2520G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.292,\N,\N,PNPT1
435501,2:55877113:C>T,55877113,NM_033109.4,NM_033109.4:c.1496-2525G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.427,0.4612,1KG_EUR_AF,PNPT1
435502,2:55877158:C>T,55877158,NM_033109.4,NM_033109.4:c.1496-2570G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.658,0.001,1KG_EUR_AF,PNPT1
435503,2:55877171:G>C,55877171,NM_033109.4,NM_033109.4:c.1496-2583C>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.622,0.0218,1KG_EAS_AF,PNPT1
435504,2:55877214:G>A,55877214,NM_033109.4,NM_033109.4:c.1496-2626C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.087,0.408,1KG_SAS_AF,PNPT1
435505,2:55877230:T>C,55877230,NM_033109.4,NM_033109.4:c.1496-2642A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.682,0.001,1KG_EUR_AF,PNPT1
435506,2:55877234:G>C,55877234,NM_033109.4,NM_033109.4:c.1496-2646C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.43,\N,\N,PNPT1
435507,2:55877234:G>T,55877234,NM_033109.4,NM_033109.4:c.1496-2646C>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.867,0.0102,1KG_SAS_AF,PNPT1
435508,2:55877246:A>T,55877246,NM_033109.4,NM_033109.4:c.1496-2658T>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.277,0.0427,1KG_EUR_AF,PNPT1
435509,2:55877254:T>A,55877254,NM_033109.4,NM_033109.4:c.1496-2666A>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.966,\N,\N,PNPT1
435510,2:55877258:G>GCCCTCTCT,55877258,NM_033109.4,NM_033109.4:c.1496-2678_1496-2671dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435511,2:55877276:C>CACCTCT,55877276,NM_033109.4,NM_033109.4:c.1496-2694_1496-2689dup,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.649,0.4254,1KG_EUR_AF,PNPT1
435512,2:55877276:C>CTCT,55877276,NM_033109.4,NM_033109.4:c.1496-2689_1496-2688insAGA,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435513,2:55877276:CACCTCT>C,55877276,NM_033109.4,NM_033109.4:c.1496-2694_1496-2689del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.406,0.002,1KG_EUR_AF,PNPT1
435514,2:55877302:C>T,55877302,NM_033109.4,NM_033109.4:c.1496-2714G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.872,0.0716,1KG_SAS_AF,PNPT1
435515,2:55877309:C>CTCTACA,55877309,NM_033109.4,NM_033109.4:c.1496-2722_1496-2721insTGTAGA,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435516,2:55877309:CCACGG>C,55877309,NM_033109.4,NM_033109.4:c.1496-2726_1496-2722del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435517,2:55877352:C>T,55877352,NM_033109.4,NM_033109.4:c.1496-2764G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.99,0.408,1KG_SAS_AF,PNPT1
435518,2:55877400:G>T,55877400,NM_033109.4,NM_033109.4:c.1496-2812C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.655,0.0014,1KG_AMR_AF,PNPT1
435519,2:55877403:G>C,55877403,NM_033109.4,NM_033109.4:c.1496-2815C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.912,0.0023,1KG_AFR_AF,PNPT1
435520,2:55877416:T>C,55877416,NM_033109.4,NM_033109.4:c.1496-2828A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.519,0.4062,1KG_AFR_AF,PNPT1
435521,2:55877417:G>A,55877417,NM_033109.4,NM_033109.4:c.1496-2829C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.977,0.0008,1KG_AFR_AF,PNPT1
435522,2:55877422:C>T,55877422,NM_033109.4,NM_033109.4:c.1496-2834G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.916,0.408,1KG_SAS_AF,PNPT1
435523,2:55877424:C>T,55877424,NM_033109.4,NM_033109.4:c.1496-2836G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.65,0.0008,1KG_AFR_AF,PNPT1
435524,2:55877429:C>T,55877429,NM_033109.4,NM_033109.4:c.1496-2841G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.687,0.002,1KG_EUR_AF,PNPT1
435525,2:55877449:C>T,55877449,NM_033109.4,NM_033109.4:c.1496-2861G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.637,0.0166,1KG_AFR_AF,PNPT1
435526,2:55877476:C>G,55877476,NM_033109.4,NM_033109.4:c.1496-2888G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.207,0.0038,1KG_AFR_AF,PNPT1
435527,2:55877476:C>T,55877476,NM_033109.4,NM_033109.4:c.1496-2888G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.999,0.0318,1KG_AFR_AF,PNPT1
435528,2:55877477:G>C,55877477,NM_033109.4,NM_033109.4:c.1496-2889C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.701,0.0015,1KG_AFR_AF,PNPT1
435529,2:55877486:G>T,55877486,NM_033109.4,NM_033109.4:c.1496-2898C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.247,0.0014,1KG_AMR_AF,PNPT1
435530,2:55877513:C>T,55877513,NM_033109.4,NM_033109.4:c.1496-2925G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.557,0.001,1KG_EUR_AF,PNPT1
435531,2:55877514:G>C,55877514,NM_033109.4,NM_033109.4:c.1496-2926C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.785,0.001,1KG_SAS_AF,PNPT1
435532,2:55877522:C>T,55877522,NM_033109.4,NM_033109.4:c.1496-2934G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.635,0.001,1KG_EAS_AF,PNPT1
435533,2:55877525:T>C,55877525,NM_033109.4,NM_033109.4:c.1496-2937A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.594,\N,\N,PNPT1
435534,2:55877531:C>G,55877531,NM_033109.4,NM_033109.4:c.1496-2943G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.134,\N,\N,PNPT1
435535,2:55877533:G>C,55877533,NM_033109.4,NM_033109.4:c.1496-2945C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.277,\N,\N,PNPT1
435536,2:55877541:A>C,55877541,NM_033109.4,NM_033109.4:c.1496-2953T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.276,\N,\N,PNPT1
435537,2:55877567:C>T,55877567,NM_033109.4,NM_033109.4:c.1496-2979G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.82,\N,\N,PNPT1
435538,2:55877568:G>C,55877568,NM_033109.4,NM_033109.4:c.1496-2980C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.586,0.001,1KG_SAS_AF,PNPT1
435539,2:55877622:T>G,55877622,NM_033109.4,NM_033109.4:c.1496-3034A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.919,0.001,1KG_SAS_AF,PNPT1
435540,2:55877650:T>C,55877650,NM_033109.4,NM_033109.4:c.1496-3062A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.734,0.0014,1KG_AMR_AF,PNPT1
435541,2:55877695:G>A,55877695,NM_033109.4,NM_033109.4:c.1496-3107C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.775,0.001,1KG_EUR_AF,PNPT1
435542,2:55877713:T>C,55877713,NM_033109.4,NM_033109.4:c.1496-3125A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.4,0.001,1KG_SAS_AF,PNPT1
435543,2:55877718:A>G,55877718,NM_033109.4,NM_033109.4:c.1496-3130T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.419,0.0045,1KG_AFR_AF,PNPT1
435544,2:55877720:C>T,55877720,NM_033109.4,NM_033109.4:c.1496-3132G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.372,0.005,1KG_EAS_AF,PNPT1
435545,2:55877721:G>A,55877721,NM_033109.4,NM_033109.4:c.1496-3133C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.064,0.001,1KG_EUR_AF,PNPT1
435546,2:55877737:C>A,55877737,NM_033109.4,NM_033109.4:c.1496-3149G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.65,0.0015,1KG_AFR_AF,PNPT1
435547,2:55877774:C>T,55877774,NM_033109.4,NM_033109.4:c.1496-3186G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.719,0.0166,1KG_AFR_AF,PNPT1
435548,2:55877775:G>A,55877775,NM_033109.4,NM_033109.4:c.1496-3187C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.015,0.0089,1KG_EAS_AF,PNPT1
435549,2:55877856:G>A,55877856,NM_033109.4,NM_033109.4:c.1496-3268C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.521,0.0716,1KG_SAS_AF,PNPT1
435550,2:55877879:C>T,55877879,NM_033109.4,NM_033109.4:c.1496-3291G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.46,\N,\N,PNPT1
435551,2:55877880:G>A,55877880,NM_033109.4,NM_033109.4:c.1496-3292C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.297,\N,\N,PNPT1
435552,2:55877889:C>T,55877889,NM_033109.4,NM_033109.4:c.1496-3301G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.77,0.001,1KG_EAS_AF,PNPT1
435553,2:55877890:C>T,55877890,NM_033109.4,NM_033109.4:c.1496-3302G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.588,0.005,1KG_EAS_AF,PNPT1
435554,2:55877891:G>A,55877891,NM_033109.4,NM_033109.4:c.1496-3303C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.175,0.0045,1KG_AFR_AF,PNPT1
435555,2:55877936:G>C,55877936,NM_033109.4,NM_033109.4:c.1496-3348C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.637,0.001,1KG_SAS_AF,PNPT1
435556,2:55877972:C>T,55877972,NM_033109.4,NM_033109.4:c.1496-3384G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.161,0.0045,1KG_AFR_AF,PNPT1
435557,2:55877978:C>A,55877978,NM_033109.4,NM_033109.4:c.1496-3390G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.132,0.0014,1KG_AMR_AF,PNPT1
435558,2:55878019:C>G,55878019,NM_033109.4,NM_033109.4:c.1496-3431G>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.832,0.0393,1KG_AFR_AF,PNPT1
435559,2:55878024:G>C,55878024,NM_033109.4,NM_033109.4:c.1496-3436C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.326,0.0031,1KG_SAS_AF,PNPT1
435560,2:55878024:G>T,55878024,NM_033109.4,NM_033109.4:c.1496-3436C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.176,0.002,1KG_SAS_AF,PNPT1
435561,2:55878028:G>A,55878028,NM_033109.4,NM_033109.4:c.1496-3440C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.267,0.0716,1KG_SAS_AF,PNPT1
435562,2:55878047:C>T,55878047,NM_033109.4,NM_033109.4:c.1496-3459G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.656,0.0716,1KG_SAS_AF,PNPT1
435563,2:55878053:G>A,55878053,NM_033109.4,NM_033109.4:c.1496-3465C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.958,0.001,1KG_EUR_AF,PNPT1
435564,2:55878065:G>A,55878065,NM_033109.4,NM_033109.4:c.1496-3477C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.585,\N,\N,PNPT1
435565,2:55878086:A>G,55878086,NM_033109.4,NM_033109.4:c.1496-3498T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.495,\N,\N,PNPT1
435566,2:55878222:C>T,55878222,NM_033109.4,NM_033109.4:c.1496-3634G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.164,\N,\N,PNPT1
435567,2:55878229:A>G,55878229,NM_033109.4,NM_033109.4:c.1496-3641T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.935,\N,\N,PNPT1
435568,2:55878236:C>T,55878236,NM_033109.4,NM_033109.4:c.1496-3648G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.569,0.0014,1KG_AMR_AF,PNPT1
435569,2:55878237:G>A,55878237,NM_033109.4,NM_033109.4:c.1496-3649C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.937,0.0008,1KG_AFR_AF,PNPT1
435570,2:55878270:G>A,55878270,NM_033109.4,NM_033109.4:c.1496-3682C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.69,0.0318,1KG_EUR_AF,PNPT1
435571,2:55878314:C>T,55878314,NM_033109.4,NM_033109.4:c.1495+3721G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.586,0.0008,1KG_AFR_AF,PNPT1
435572,2:55878339:C>T,55878339,NM_033109.4,NM_033109.4:c.1495+3696G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.376,0.5328,1KG_EUR_AF,PNPT1
435573,2:55878353:C>A,55878353,NM_033109.4,NM_033109.4:c.1495+3682G>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.661,0.0159,1KG_EAS_AF,PNPT1
435574,2:55878363:G>C,55878363,NM_033109.4,NM_033109.4:c.1495+3672C>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.695,0.0068,1KG_AFR_AF,PNPT1
435575,2:55878390:C>G,55878390,NM_033109.4,NM_033109.4:c.1495+3645G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.339,0.0008,1KG_AFR_AF,PNPT1
435576,2:55878397:G>A,55878397,NM_033109.4,NM_033109.4:c.1495+3638C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.798,0.0008,1KG_AFR_AF,PNPT1
435577,2:55878535:G>A,55878535,NM_033109.4,NM_033109.4:c.1495+3500C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.148,\N,\N,PNPT1
435578,2:55878573:T>G,55878573,NM_033109.4,NM_033109.4:c.1495+3462A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.979,0.001,1KG_EAS_AF,PNPT1
435579,2:55878632:A>C,55878632,NM_033109.4,NM_033109.4:c.1495+3403T>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.427,0.006,1KG_EAS_AF,PNPT1
435580,2:55878632:A>G,55878632,NM_033109.4,NM_033109.4:c.1495+3403T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.223,\N,\N,PNPT1
435581,2:55878633:CAT>C,55878633,NM_033109.4,NM_033109.4:c.1495+3400_1495+3401del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.812,\N,\N,PNPT1
435582,2:55878645:C>G,55878645,NM_033109.4,NM_033109.4:c.1495+3390G>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.656,0.408,1KG_SAS_AF,PNPT1
435583,2:55878646:C>T,55878646,NM_033109.4,NM_033109.4:c.1495+3389G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.8,0.0014,1KG_AMR_AF,PNPT1
435584,2:55878675:G>A,55878675,NM_033109.4,NM_033109.4:c.1495+3360C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.011,\N,\N,PNPT1
435585,2:55878715:G>A,55878715,NM_033109.4,NM_033109.4:c.1495+3320C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.613,\N,\N,PNPT1
435586,2:55878791:C>T,55878791,NM_033109.4,NM_033109.4:c.1495+3244G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.752,\N,\N,PNPT1
435587,2:55878792:T>G,55878792,NM_033109.4,NM_033109.4:c.1495+3243A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.272,0.0008,1KG_AFR_AF,PNPT1
435588,2:55878879:C>T,55878879,NM_033109.4,NM_033109.4:c.1495+3156G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.732,\N,\N,PNPT1
435589,2:55878908:TA>T,55878908,NM_033109.4,NM_033109.4:c.1495+3126del,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.25,0.6938,1KG_EUR_AF,PNPT1
435590,2:55878924:A>T,55878924,NM_033109.4,NM_033109.4:c.1495+3111T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.675,\N,\N,PNPT1
435591,2:55878927:A>T,55878927,NM_033109.4,NM_033109.4:c.1495+3108T>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.794,0.6938,1KG_EUR_AF,PNPT1
435592,2:55878962:C>T,55878962,NM_033109.4,NM_033109.4:c.1495+3073G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.348,0.001,1KG_EAS_AF,PNPT1
435593,2:55878963:T>C,55878963,NM_033109.4,NM_033109.4:c.1495+3072A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.714,0.053,1KG_AFR_AF,PNPT1
435594,2:55879005:G>C,55879005,NM_033109.4,NM_033109.4:c.1495+3030C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.258,0.001,1KG_EUR_AF,PNPT1
435595,2:55879020:C>CA,55879020,NM_033109.4,NM_033109.4:c.1495+3014dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.041,\N,\N,PNPT1
435596,2:55879020:C>CAA,55879020,NM_033109.4,NM_033109.4:c.1495+3013_1495+3014dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.878,\N,\N,PNPT1
435597,2:55879020:C>CAAA,55879020,NM_033109.4,NM_033109.4:c.1495+3012_1495+3014dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.719,\N,\N,PNPT1
435598,2:55879020:CA>C,55879020,NM_033109.4,NM_033109.4:c.1495+3014del,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.457,0.5946,1KG_AFR_AF,PNPT1
435599,2:55879020:CAAA>C,55879020,NM_033109.4,NM_033109.4:c.1495+3012_1495+3014del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.972,\N,\N,PNPT1
435600,2:55879033:A>C,55879033,NM_033109.4,NM_033109.4:c.1495+3002T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.713,0.0008,1KG_AFR_AF,PNPT1
435601,2:55879036:A>C,55879036,NM_033109.4,NM_033109.4:c.1495+2999T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.446,\N,\N,PNPT1
435602,2:55879064:A>T,55879064,NM_033109.4,NM_033109.4:c.1495+2971T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.396,\N,\N,PNPT1
435603,2:55879071:T>A,55879071,NM_033109.4,NM_033109.4:c.1495+2964A>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.905,0.0089,1KG_EUR_AF,PNPT1
435604,2:55879088:C>T,55879088,NM_033109.4,NM_033109.4:c.1495+2947G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.905,\N,\N,PNPT1
435605,2:55879089:G>C,55879089,NM_033109.4,NM_033109.4:c.1495+2946C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.093,\N,\N,PNPT1
435606,2:55879124:T>C,55879124,NM_033109.4,NM_033109.4:c.1495+2911A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.431,0.0961,1KG_AFR_AF,PNPT1
435607,2:55879195:C>G,55879195,NM_033109.4,NM_033109.4:c.1495+2840G>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.644,0.0053,1KG_AFR_AF,PNPT1
435608,2:55879219:T>A,55879219,NM_033109.4,NM_033109.4:c.1495+2816A>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.563,0.001,1KG_EAS_AF|1KG_EUR_AF,PNPT1
435609,2:55879220:G>A,55879220,NM_033109.4,NM_033109.4:c.1495+2815C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.964,0.002,1KG_SAS_AF,PNPT1
435610,2:55879240:A>G,55879240,NM_033109.4,NM_033109.4:c.1495+2795T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.573,\N,\N,PNPT1
435611,2:55879255:G>A,55879255,NM_033109.4,NM_033109.4:c.1495+2780C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.614,\N,\N,PNPT1
435612,2:55879264:T>G,55879264,NM_033109.4,NM_033109.4:c.1495+2771A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.611,0.001,1KG_EAS_AF,PNPT1
435613,2:55879283:T>C,55879283,NM_033109.4,NM_033109.4:c.1495+2752A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.002,0.002,1KG_EAS_AF,PNPT1
435614,2:55879315:TTG>T,55879315,NM_033109.4,NM_033109.4:c.1495+2718_1495+2719del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.409,\N,\N,PNPT1
435615,2:55879316:T>TG,55879316,NM_033109.4,NM_033109.4:c.1495+2718dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435616,2:55879316:T>TTG,55879316,NM_033109.4,NM_033109.4:c.1495+2718_1495+2719insCA,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435617,2:55879316:TG>T,55879316,NM_033109.4,NM_033109.4:c.1495+2718del,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.19,0.5805,1KG_EUR_AF,PNPT1
435618,2:55879317:G>T,55879317,NM_033109.4,NM_033109.4:c.1495+2718C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.46,\N,\N,PNPT1
435619,2:55879323:A>C,55879323,NM_033109.4,NM_033109.4:c.1495+2712T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.315,0.001,1KG_EUR_AF,PNPT1
435620,2:55879332:A>C,55879332,NM_033109.4,NM_033109.4:c.1495+2703T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.53,0.001,1KG_EAS_AF,PNPT1
435621,2:55879349:G>C,55879349,NM_033109.4,NM_033109.4:c.1495+2686C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.816,0.001,1KG_EAS_AF,PNPT1
435622,2:55879360:C>T,55879360,NM_033109.4,NM_033109.4:c.1495+2675G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.022,\N,\N,PNPT1
435623,2:55879381:T>C,55879381,NM_033109.4,NM_033109.4:c.1495+2654A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.404,\N,\N,PNPT1
435624,2:55879391:A>C,55879391,NM_033109.4,NM_033109.4:c.1495+2644T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.328,\N,\N,PNPT1
435625,2:55879398:G>T,55879398,NM_033109.4,NM_033109.4:c.1495+2637C>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.372,0.0129,1KG_EAS_AF,PNPT1
435626,2:55879417:A>G,55879417,NM_033109.4,NM_033109.4:c.1495+2618T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.984,0.001,1KG_EAS_AF,PNPT1
435627,2:55879422:A>T,55879422,NM_033109.4,NM_033109.4:c.1495+2613T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.968,\N,\N,PNPT1
435628,2:55879441:C>G,55879441,NM_033109.4,NM_033109.4:c.1495+2594G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.99,0.0023,1KG_AFR_AF,PNPT1
435629,2:55879456:C>T,55879456,NM_033109.4,NM_033109.4:c.1495+2579G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.426,0.0144,1KG_AFR_AF,PNPT1
435630,2:55879463:T>C,55879463,NM_033109.4,NM_033109.4:c.1495+2572A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.071,0.0061,1KG_SAS_AF,PNPT1
435631,2:55879499:A>T,55879499,NM_033109.4,NM_033109.4:c.1495+2536T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.87,\N,\N,PNPT1
435632,2:55879512:T>G,55879512,NM_033109.4,NM_033109.4:c.1495+2523A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.568,0.001,1KG_EAS_AF,PNPT1
435633,2:55879514:T>C,55879514,NM_033109.4,NM_033109.4:c.1495+2521A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.062,\N,\N,PNPT1
435634,2:55879547:T>C,55879547,NM_033109.4,NM_033109.4:c.1495+2488A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.307,\N,\N,PNPT1
435635,2:55879570:C>A,55879570,NM_033109.4,NM_033109.4:c.1495+2465G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.684,\N,\N,PNPT1
435636,2:55879572:T>A,55879572,NM_033109.4,NM_033109.4:c.1495+2463A>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.705,\N,\N,PNPT1
435637,2:55879574:C>T,55879574,NM_033109.4,NM_033109.4:c.1495+2461G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.322,0.0008,1KG_AFR_AF,PNPT1
435638,2:55879598:C>T,55879598,NM_033109.4,NM_033109.4:c.1495+2437G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.171,0.0008,1KG_AFR_AF,PNPT1
435639,2:55879601:T>C,55879601,NM_033109.4,NM_033109.4:c.1495+2434A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.007,\N,\N,PNPT1
435640,2:55879626:T>C,55879626,NM_033109.4,NM_033109.4:c.1495+2409A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.339,0.001,1KG_SAS_AF,PNPT1
435641,2:55879627:T>C,55879627,NM_033109.4,NM_033109.4:c.1495+2408A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.59,0.0015,1KG_AFR_AF,PNPT1
435642,2:55879660:A>C,55879660,NM_033109.4,NM_033109.4:c.1495+2375T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.115,0.002,1KG_SAS_AF,PNPT1
435643,2:55879664:T>C,55879664,NM_033109.4,NM_033109.4:c.1495+2371A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.022,\N,\N,PNPT1
435644,2:55879689:C>T,55879689,NM_033109.4,NM_033109.4:c.1495+2346G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.927,0.004,1KG_EAS_AF,PNPT1
435645,2:55879698:G>A,55879698,NM_033109.4,NM_033109.4:c.1495+2337C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.233,0.002,1KG_SAS_AF,PNPT1
435646,2:55879709:G>C,55879709,NM_033109.4,NM_033109.4:c.1495+2326C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.191,\N,\N,PNPT1
435647,2:55879715:A>C,55879715,NM_033109.4,NM_033109.4:c.1495+2320T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.431,\N,\N,PNPT1
435648,2:55879722:G>C,55879722,NM_033109.4,NM_033109.4:c.1495+2313C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.149,0.002,1KG_EAS_AF,PNPT1
435649,2:55879725:C>G,55879725,NM_033109.4,NM_033109.4:c.1495+2310G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.597,0.0008,1KG_AFR_AF,PNPT1
435650,2:55879737:T>C,55879737,NM_033109.4,NM_033109.4:c.1495+2298A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.315,0.0029,1KG_AMR_AF,PNPT1
435651,2:55879769:T>G,55879769,NM_033109.4,NM_033109.4:c.1495+2266A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.072,\N,\N,PNPT1
435652,2:55879770:A>G,55879770,NM_033109.4,NM_033109.4:c.1495+2265T>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.693,0.005,1KG_EUR_AF,PNPT1
435653,2:55879772:G>T,55879772,NM_033109.4,NM_033109.4:c.1495+2263C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.196,0.0014,1KG_AMR_AF,PNPT1
435654,2:55879791:T>C,55879791,NM_033109.4,NM_033109.4:c.1495+2244A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.761,0.0318,1KG_AFR_AF,PNPT1
435655,2:55879795:C>A,55879795,NM_033109.4,NM_033109.4:c.1495+2240G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.305,0.001,1KG_EUR_AF,PNPT1
435656,2:55879810:A>C,55879810,NM_033109.4,NM_033109.4:c.1495+2225T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.038,\N,\N,PNPT1
435657,2:55879817:CAAGATATCATA>C,55879817,NM_033109.4,NM_033109.4:c.1495+2207_1495+2217del,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.17,0.0102,1KG_SAS_AF,PNPT1
435658,2:55879848:A>C,55879848,NM_033109.4,NM_033109.4:c.1495+2187T>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.043,0.0409,1KG_SAS_AF,PNPT1
435659,2:55879891:T>G,55879891,NM_033109.4,NM_033109.4:c.1495+2144A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.869,0.001,1KG_EUR_AF,PNPT1
435660,2:55879897:T>G,55879897,NM_033109.4,NM_033109.4:c.1495+2138A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.996,0.0008,1KG_AFR_AF,PNPT1
435661,2:55879922:G>C,55879922,NM_033109.4,NM_033109.4:c.1495+2113C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.176,0.0008,1KG_AFR_AF,PNPT1
435662,2:55879931:C>G,55879931,NM_033109.4,NM_033109.4:c.1495+2104G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.649,0.0008,1KG_AFR_AF,PNPT1
435663,2:55879968:T>G,55879968,NM_033109.4,NM_033109.4:c.1495+2067A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.844,\N,\N,PNPT1
435664,2:55880028:G>GT,55880028,NM_033109.4,NM_033109.4:c.1495+2006_1495+2007insA,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435665,2:55880045:C>T,55880045,NM_033109.4,NM_033109.4:c.1495+1990G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.065,\N,\N,PNPT1
435666,2:55880046:G>C,55880046,NM_033109.4,NM_033109.4:c.1495+1989C>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.006,0.1421,1KG_SAS_AF,PNPT1
435667,2:55880049:C>A,55880049,NM_033109.4,NM_033109.4:c.1495+1986G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.781,\N,\N,PNPT1
435668,2:55880068:C>T,55880068,NM_033109.4,NM_033109.4:c.1495+1967G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.45,0.002,1KG_EUR_AF,PNPT1
435669,2:55880075:T>C,55880075,NM_033109.4,NM_033109.4:c.1495+1960A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.449,0.0008,1KG_AFR_AF,PNPT1
435670,2:55880098:T>A,55880098,NM_033109.4,NM_033109.4:c.1495+1937A>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.969,0.0317,1KG_SAS_AF,PNPT1
435671,2:55880127:C>T,55880127,NM_033109.4,NM_033109.4:c.1495+1908G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.519,\N,\N,PNPT1
435672,2:55880175:G>T,55880175,NM_033109.4,NM_033109.4:c.1495+1860C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.776,0.001,1KG_EUR_AF,PNPT1
435673,2:55880182:T>C,55880182,NM_033109.4,NM_033109.4:c.1495+1853A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.119,0.5368,1KG_EUR_AF,PNPT1
435674,2:55880193:G>A,55880193,NM_033109.4,NM_033109.4:c.1495+1842C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.535,\N,\N,PNPT1
435675,2:55880228:C>G,55880228,NM_033109.4,NM_033109.4:c.1495+1807G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.199,\N,\N,PNPT1
435676,2:55880244:A>G,55880244,NM_033109.4,NM_033109.4:c.1495+1791T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.347,0.0008,1KG_AFR_AF,PNPT1
435677,2:55880284:C>G,55880284,NM_033109.4,NM_033109.4:c.1495+1751G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.06,\N,\N,PNPT1
435678,2:55880308:A>G,55880308,NM_033109.4,NM_033109.4:c.1495+1727T>C,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.994,0.4062,1KG_AFR_AF,PNPT1
435679,2:55880320:T>A,55880320,NM_033109.4,NM_033109.4:c.1495+1715A>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.214,\N,\N,PNPT1
435680,2:55880375:T>C,55880375,NM_033109.4,NM_033109.4:c.1495+1660A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.139,\N,\N,PNPT1
435681,2:55880402:A>G,55880402,NM_033109.4,NM_033109.4:c.1495+1633T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.745,\N,\N,PNPT1
435682,2:55880406:T>C,55880406,NM_033109.4,NM_033109.4:c.1495+1629A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.148,\N,\N,PNPT1
435683,2:55880413:G>A,55880413,NM_033109.4,NM_033109.4:c.1495+1622C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.166,\N,\N,PNPT1
435684,2:55880428:G>A,55880428,NM_033109.4,NM_033109.4:c.1495+1607C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.714,0.0076,1KG_AFR_AF,PNPT1
435685,2:55880442:C>T,55880442,NM_033109.4,NM_033109.4:c.1495+1593G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.316,0.0144,1KG_AFR_AF,PNPT1
435686,2:55880519:C>T,55880519,NM_033109.4,NM_033109.4:c.1495+1516G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.496,\N,\N,PNPT1
435687,2:55880533:C>A,55880533,NM_033109.4,NM_033109.4:c.1495+1502G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.117,\N,\N,PNPT1
435688,2:55880551:G>T,55880551,NM_033109.4,NM_033109.4:c.1495+1484C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.581,\N,\N,PNPT1
435689,2:55880561:G>T,55880561,NM_033109.4,NM_033109.4:c.1495+1474C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.801,\N,\N,PNPT1
435690,2:55880566:C>T,55880566,NM_033109.4,NM_033109.4:c.1495+1469G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.864,0.0757,1KG_SAS_AF,PNPT1
435691,2:55880575:G>A,55880575,NM_033109.4,NM_033109.4:c.1495+1460C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.573,\N,\N,PNPT1
435692,2:55880624:T>G,55880624,NM_033109.4,NM_033109.4:c.1495+1411A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.27,\N,\N,PNPT1
435693,2:55880637:T>C,55880637,NM_033109.4,NM_033109.4:c.1495+1398A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.817,\N,\N,PNPT1
435694,2:55880679:T>A,55880679,NM_033109.4,NM_033109.4:c.1495+1356A>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.912,0.002,1KG_EAS_AF,PNPT1
435695,2:55880714:G>A,55880714,NM_033109.4,NM_033109.4:c.1495+1321C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.91,0.003,1KG_EAS_AF,PNPT1
435696,2:55880729:G>T,55880729,NM_033109.4,NM_033109.4:c.1495+1306C>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.667,0.0139,1KG_EUR_AF,PNPT1
435697,2:55880749:G>A,55880749,NM_033109.4,NM_033109.4:c.1495+1286C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.107,0.0008,1KG_AFR_AF,PNPT1
435698,2:55880871:G>C,55880871,NM_033109.4,NM_033109.4:c.1495+1164C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.201,0.001,1KG_EUR_AF,PNPT1
435699,2:55880888:A>AT,55880888,NM_033109.4,NM_033109.4:c.1495+1146dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435700,2:55880891:T>G,55880891,NM_033109.4,NM_033109.4:c.1495+1144A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.281,0.0008,1KG_AFR_AF,PNPT1
435701,2:55880924:G>A,55880924,NM_033109.4,NM_033109.4:c.1495+1111C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.256,\N,\N,PNPT1
435702,2:55880937:C>T,55880937,NM_033109.4,NM_033109.4:c.1495+1098G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.642,0.003,1KG_AFR_AF,PNPT1
435703,2:55880948:C>T,55880948,NM_033109.4,NM_033109.4:c.1495+1087G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.475,\N,\N,PNPT1
435704,2:55880950:C>T,55880950,NM_033109.4,NM_033109.4:c.1495+1085G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.077,\N,\N,PNPT1
435705,2:55880951:G>A,55880951,NM_033109.4,NM_033109.4:c.1495+1084C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.215,\N,\N,PNPT1
435706,2:55880987:T>C,55880987,NM_033109.4,NM_033109.4:c.1495+1048A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.675,0.0014,1KG_AMR_AF,PNPT1
435707,2:55881025:T>C,55881025,NM_033109.4,NM_033109.4:c.1495+1010A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.514,\N,\N,PNPT1
435708,2:55881029:G>A,55881029,NM_033109.4,NM_033109.4:c.1495+1006C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.338,\N,\N,PNPT1
435709,2:55881031:C>T,55881031,NM_033109.4,NM_033109.4:c.1495+1004G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.897,0.001,1KG_EUR_AF,PNPT1
435710,2:55881057:C>T,55881057,NM_033109.4,NM_033109.4:c.1495+978G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.267,\N,\N,PNPT1
435711,2:55881068:A>G,55881068,NM_033109.4,NM_033109.4:c.1495+967T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.948,0.001,1KG_EUR_AF,PNPT1
435712,2:55881086:C>T,55881086,NM_033109.4,NM_033109.4:c.1495+949G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.993,\N,\N,PNPT1
435713,2:55881087:G>A,55881087,NM_033109.4,NM_033109.4:c.1495+948C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.571,\N,\N,PNPT1
435714,2:55881111:C>T,55881111,NM_033109.4,NM_033109.4:c.1495+924G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.278,\N,\N,PNPT1
435715,2:55881117:G>A,55881117,NM_033109.4,NM_033109.4:c.1495+918C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.84,0.007,1KG_EUR_AF,PNPT1
435716,2:55881119:T>C,55881119,NM_033109.4,NM_033109.4:c.1495+916A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.986,\N,\N,PNPT1
435717,2:55881175:C>T,55881175,NM_033109.4,NM_033109.4:c.1495+860G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.18,\N,\N,PNPT1
435718,2:55881176:G>A,55881176,NM_033109.4,NM_033109.4:c.1495+859C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.916,0.4054,1KG_AFR_AF,PNPT1
435719,2:55881178:G>A,55881178,NM_033109.4,NM_033109.4:c.1495+857C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.13,0.001,1KG_SAS_AF,PNPT1
435720,2:55881207:T>C,55881207,NM_033109.4,NM_033109.4:c.1495+828A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.943,0.0015,1KG_AFR_AF,PNPT1
435721,2:55881226:G>A,55881226,NM_033109.4,NM_033109.4:c.1495+809C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.032,0.0333,1KG_AFR_AF,PNPT1
435722,2:55881226:G>C,55881226,NM_033109.4,NM_033109.4:c.1495+809C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.006,\N,\N,PNPT1
435723,2:55881226:G>T,55881226,NM_033109.4,NM_033109.4:c.1495+809C>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.011,\N,\N,PNPT1
435724,2:55881248:C>G,55881248,NM_033109.4,NM_033109.4:c.1495+787G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.919,\N,\N,PNPT1
435725,2:55881257:T>C,55881257,NM_033109.4,NM_033109.4:c.1495+778A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.251,0.5358,1KG_EUR_AF,PNPT1
435726,2:55881314:C>T,55881314,NM_033109.4,NM_033109.4:c.1495+721G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.92,0.0333,1KG_AFR_AF,PNPT1
435727,2:55881324:G>A,55881324,NM_033109.4,NM_033109.4:c.1495+711C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.719,\N,\N,PNPT1
435728,2:55881327:G>A,55881327,NM_033109.4,NM_033109.4:c.1495+708C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.819,0.0218,1KG_EAS_AF,PNPT1
435729,2:55881329:T>A,55881329,NM_033109.4,NM_033109.4:c.1495+706A>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.919,0.4062,1KG_AFR_AF,PNPT1
435730,2:55881378:C>T,55881378,NM_033109.4,NM_033109.4:c.1495+657G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.238,0.001,1KG_SAS_AF,PNPT1
435731,2:55881419:G>A,55881419,NM_033109.4,NM_033109.4:c.1495+616C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.185,0.002,1KG_EUR_AF,PNPT1
435732,2:55881440:C>T,55881440,NM_033109.4,NM_033109.4:c.1495+595G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.59,0.001,1KG_EUR_AF,PNPT1
435733,2:55881441:G>A,55881441,NM_033109.4,NM_033109.4:c.1495+594C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.639,0.0014,1KG_AMR_AF,PNPT1
435734,2:55881457:T>C,55881457,NM_033109.4,NM_033109.4:c.1495+578A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.213,\N,\N,PNPT1
435735,2:55881478:C>G,55881478,NM_033109.4,NM_033109.4:c.1495+557G>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.948,0.001,1KG_SAS_AF,PNPT1
435736,2:55881480:G>A,55881480,NM_033109.4,NM_033109.4:c.1495+555C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.668,0.0053,1KG_AFR_AF,PNPT1
435737,2:55881492:T>C,55881492,NM_033109.4,NM_033109.4:c.1495+543A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.45,0.001,1KG_EAS_AF,PNPT1
435738,2:55881502:A>G,55881502,NM_033109.4,NM_033109.4:c.1495+533T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.941,0.001,1KG_SAS_AF,PNPT1
435739,2:55881503:C>T,55881503,NM_033109.4,NM_033109.4:c.1495+532G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.991,0.001,1KG_EAS_AF,PNPT1
435740,2:55881504:G>A,55881504,NM_033109.4,NM_033109.4:c.1495+531C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.457,\N,\N,PNPT1
435741,2:55881516:T>C,55881516,NM_033109.4,NM_033109.4:c.1495+519A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.421,\N,\N,PNPT1
435742,2:55881538:T>C,55881538,NM_033109.4,NM_033109.4:c.1495+497A>G,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.279,0.5358,1KG_EUR_AF,PNPT1
435743,2:55881554:A>T,55881554,NM_033109.4,NM_033109.4:c.1495+481T>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.994,0.0029,1KG_AMR_AF,PNPT1
435744,2:55881574:CCTAATAGTACTTA>C,55881574,NM_033109.4,NM_033109.4:c.1495+448_1495+460del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435745,2:55881582:T>C,55881582,NM_033109.4,NM_033109.4:c.1495+453A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.218,\N,\N,PNPT1
435746,2:55881645:G>A,55881645,NM_033109.4,NM_033109.4:c.1495+390C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.88,0.0014,1KG_AMR_AF,PNPT1
435747,2:55881654:G>A,55881654,NM_033109.4,NM_033109.4:c.1495+381C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.208,\N,\N,PNPT1
435748,2:55881683:T>C,55881683,NM_033109.4,NM_033109.4:c.1495+352A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.33,\N,\N,PNPT1
435749,2:55881698:C>CT,55881698,NM_033109.4,NM_033109.4:c.1495+336dup,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435750,2:55881749:A>G,55881749,NM_033109.4,NM_033109.4:c.1495+286T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.344,0.0014,1KG_AMR_AF,PNPT1
435751,2:55881816:C>T,55881816,NM_033109.4,NM_033109.4:c.1495+219G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.047,0.9796,1KG_AFR_AF,PNPT1
435752,2:55881879:T>C,55881879,NM_033109.4,NM_033109.4:c.1495+156A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.91,0.001,1KG_EAS_AF,PNPT1
435753,2:55881881:T>A,55881881,NM_033109.4,NM_033109.4:c.1495+154A>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.512,0.0061,1KG_AFR_AF,PNPT1
435754,2:55881882:A>C,55881882,NM_033109.4,NM_033109.4:c.1495+153T>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.043,0.0038,1KG_AFR_AF,PNPT1
435755,2:55881917:C>T,55881917,NM_033109.4,NM_033109.4:c.1495+118G>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.132,0.0091,1KG_AFR_AF,PNPT1
435756,2:55881925:G>C,55881925,NM_033109.4,NM_033109.4:c.1495+110C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.312,0.0043,1KG_AMR_AF,PNPT1
435757,2:55881938:C>T,55881938,NM_033109.4,NM_033109.4:c.1495+97G>A,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.082,0.001,1KG_SAS_AF,PNPT1
435758,2:55881954:TCCTGCCTTGGCCTCCCAAGGCTCATG>T,55881954,NM_033109.4,NM_033109.4:c.1495+55_1495+80del,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.906,0.4047,1KG_AFR_AF,PNPT1
435759,2:55881980:G>T,55881980,NM_033109.4,NM_033109.4:c.1495+55C>A,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.424,0.1407,1KG_AFR_AF,PNPT1
435760,2:55881988:T>G,55881988,NM_033109.4,NM_033109.4:c.1495+47A>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.549,0.001,1KG_EAS_AF,PNPT1
435761,2:55881990:ACAGGCATGAGCAATAT>A,55881990,NM_033109.4,NM_033109.4:c.1495+29_1495+44del,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.989,\N,\N,PNPT1
435762,2:55881995:C>A,55881995,NM_033109.4,NM_033109.4:c.1495+40G>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.825,0.0000151423,EXAC_NFE_AF,PNPT1
435763,2:55881998:G>A,55881998,NM_033109.4,NM_033109.4:c.1495+37C>T,\N,\N,\N,18/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.124,0.0129,1KG_AFR_AF,PNPT1
435764,2:55882017:G>C,55882017,NM_033109.4,NM_033109.4:c.1495+18C>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.756,0.0000300734,EXAC_NFE_AF,PNPT1
435765,2:55882019:G>A,55882019,NM_033109.4,NM_033109.4:c.1495+16C>T,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.993,0.000015034,EXAC_NFE_AF,PNPT1
435766,2:55882022:A>G,55882022,NM_033109.4,NM_033109.4:c.1495+13T>C,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.805,0.0003462,EXAC_AMR_AF,PNPT1
435767,2:55882023:T>C,55882023,NM_033109.4,NM_033109.4:c.1495+12A>G,\N,\N,\N,18/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.203,0.000232558,EVS_EA_AF,PNPT1
435768,2:55882043:A>G,55882043,NM_033109.4,NM_033109.4:c.1487T>C,NP_149100.2:p.Met496Thr,496,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.8,\N,\N,PNPT1
435769,2:55882055:C>T,55882055,NM_033109.4,NM_033109.4:c.1475G>A,NP_149100.2:p.Ser492Asn,492,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.0000865202,EXAC_AMR_AF,PNPT1
435770,2:55882059:C>T,55882059,NM_033109.4,NM_033109.4:c.1471G>A,NP_149100.2:p.Gly491Arg,491,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,35,0.00110619,EXAC_OTH_AF,PNPT1
435771,2:55882060:G>A,55882060,NM_033109.4,NM_033109.4:c.1470C>T,NP_149100.2:p.Gly490=,490,18/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,14.25,0.0000150056,EXAC_NFE_AF,PNPT1
435772,2:55882062:C>T,55882062,NM_033109.4,NM_033109.4:c.1468G>A,NP_149100.2:p.Gly490Ser,490,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,25.6,0.0000865202,EXAC_AMR_AF,PNPT1
435773,2:55882066:T>G,55882066,NM_033109.4,NM_033109.4:c.1464A>C,NP_149100.2:p.Ala488=,488,18/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.82,0.0000150065,EXAC_NFE_AF,PNPT1
435774,2:55882068:C>T,55882068,NM_033109.4,NM_033109.4:c.1462G>A,NP_149100.2:p.Ala488Thr,488,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,26.8,0.000484907,EXAC_SAS_AF,PNPT1
435775,2:55882072:T>A,55882072,NM_033109.4,NM_033109.4:c.1458A>T,NP_149100.2:p.Ala486=,486,18/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,14.93,0.0000150051,EXAC_NFE_AF,PNPT1
435776,2:55882072:T>C,55882072,NM_033109.4,NM_033109.4:c.1458A>G,NP_149100.2:p.Ala486=,486,18/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.42,0.0008,1KG_AFR_AF,PNPT1
435777,2:55882074:C>A,55882074,NM_033109.4,NM_033109.4:c.1456G>T,NP_149100.2:p.Ala486Ser,486,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.000197083,EXAC_AFR_AF,PNPT1
435778,2:55882076:A>G,55882076,NM_033109.4,NM_033109.4:c.1454T>C,NP_149100.2:p.Met485Thr,485,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.1,0.000116279,EVS_EA_AF,PNPT1
435779,2:55882077:T>C,55882077,NM_033109.4,NM_033109.4:c.1453A>G,NP_149100.2:p.Met485Val,485,18/28,\N,Pathogenic,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,26.2,\N,\N,PNPT1
435780,2:55882077:T>G,55882077,NM_033109.4,NM_033109.4:c.1453A>C,NP_149100.2:p.Met485Leu,485,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,25.7,0.0000150065,EXAC_NFE_AF,PNPT1
435781,2:55882079:G>C,55882079,NM_033109.4,NM_033109.4:c.1451C>G,NP_149100.2:p.Ser484Cys,484,18/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,29.3,\N,\N,PNPT1
435782,2:55882087:C>A,55882087,NM_033109.4,NM_033109.4:c.1443G>T,NP_149100.2:p.Gly481=,481,18/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,15.2,0.0000606208,EXAC_SAS_AF,PNPT1
435783,2:55882091:A>G,55882091,NM_033109.4,NM_033109.4:c.1442-3T>C,\N,\N,\N,17/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,10.81,0.0000606208,EXAC_SAS_AF,PNPT1
435784,2:55882093:A>G,55882093,NM_033109.4,NM_033109.4:c.1442-5T>C,\N,\N,\N,17/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,5.25,0.0000994629,EXAC_AFR_AF,PNPT1
435785,2:55882111:TTTATA>T,55882111,NM_033109.4,NM_033109.4:c.1442-28_1442-24del,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.574,\N,\N,PNPT1
435786,2:55882115:T>C,55882115,NM_033109.4,NM_033109.4:c.1442-27A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.102,0.000100888,EXAC_AFR_AF,PNPT1
435787,2:55882116:A>G,55882116,NM_033109.4,NM_033109.4:c.1442-28T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.656,0.0000150702,EXAC_NFE_AF,PNPT1
435788,2:55882120:A>T,55882120,NM_033109.4,NM_033109.4:c.1442-32T>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.037,0.000121433,EXAC_SAS_AF,PNPT1
435789,2:55882122:C>T,55882122,NM_033109.4,NM_033109.4:c.1442-34G>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.597,0.00146327,EXAC_NFE_AF,PNPT1
435790,2:55882123:T>A,55882123,NM_033109.4,NM_033109.4:c.1442-35A>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.643,0.0000150843,EXAC_NFE_AF,PNPT1
435791,2:55882125:A>AT,55882125,NM_033109.4,NM_033109.4:c.1442-38dup,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.314,\N,\N,PNPT1
435792,2:55882125:AT>A,55882125,NM_033109.4,NM_033109.4:c.1442-38del,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.131,\N,\N,PNPT1
435793,2:55882128:T>A,55882128,NM_033109.4,NM_033109.4:c.1442-40A>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.494,0.0000302106,EXAC_NFE_AF,PNPT1
435794,2:55882132:T>A,55882132,NM_033109.4,NM_033109.4:c.1442-44A>T,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.912,0.0148595,EXAC_EAS_AF,PNPT1
435795,2:55882146:G>A,55882146,NM_033109.4,NM_033109.4:c.1442-58C>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.16,\N,\N,PNPT1
435796,2:55882170:A>G,55882170,NM_033109.4,NM_033109.4:c.1442-82T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.404,\N,\N,PNPT1
435797,2:55882202:CTCT>C,55882202,NM_033109.4,NM_033109.4:c.1442-117_1442-115del,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435798,2:55882212:T>G,55882212,NM_033109.4,NM_033109.4:c.1442-124A>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.878,\N,\N,PNPT1
435799,2:55882247:A>T,55882247,NM_033109.4,NM_033109.4:c.1442-159T>A,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.308,0.0072,1KG_AMR_AF,PNPT1
435800,2:55882267:A>G,55882267,NM_033109.4,NM_033109.4:c.1442-179T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.247,0.0014,1KG_AMR_AF,PNPT1
435801,2:55882307:A>C,55882307,NM_033109.4,NM_033109.4:c.1442-219T>G,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.168,0.0068,1KG_AFR_AF,PNPT1
435802,2:55882311:A>T,55882311,NM_033109.4,NM_033109.4:c.1442-223T>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.767,0.0023,1KG_AFR_AF,PNPT1
435803,2:55882313:TTAAAA>T,55882313,NM_033109.4,NM_033109.4:c.1442-230_1442-226del,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.717,0.0029,1KG_AMR_AF,PNPT1
435804,2:55882328:T>A,55882328,NM_033109.4,NM_033109.4:c.1442-240A>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.337,\N,\N,PNPT1
435805,2:55882329:T>C,55882329,NM_033109.4,NM_033109.4:c.1442-241A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.896,\N,\N,PNPT1
435806,2:55882330:C>A,55882330,NM_033109.4,NM_033109.4:c.1442-242G>T,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.838,0.0061,1KG_AFR_AF,PNPT1
435807,2:55882337:T>G,55882337,NM_033109.4,NM_033109.4:c.1442-249A>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.581,0.0014,1KG_AMR_AF,PNPT1
435808,2:55882350:T>C,55882350,NM_033109.4,NM_033109.4:c.1442-262A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.17,0.001,1KG_EUR_AF,PNPT1
435809,2:55882367:A>G,55882367,NM_033109.4,NM_033109.4:c.1442-279T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.214,\N,\N,PNPT1
435810,2:55882372:A>G,55882372,NM_033109.4,NM_033109.4:c.1442-284T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.039,\N,\N,PNPT1
435811,2:55882425:C>T,55882425,NM_033109.4,NM_033109.4:c.1442-337G>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.074,\N,\N,PNPT1
435812,2:55882452:T>C,55882452,NM_033109.4,NM_033109.4:c.1442-364A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.035,\N,\N,PNPT1
435813,2:55882471:A>C,55882471,NM_033109.4,NM_033109.4:c.1442-383T>G,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.649,0.5805,1KG_EUR_AF,PNPT1
435814,2:55882471:A>T,55882471,NM_033109.4,NM_033109.4:c.1442-383T>A,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.953,0.8492,1KG_EAS_AF,PNPT1
435815,2:55882491:A>G,55882491,NM_033109.4,NM_033109.4:c.1442-403T>C,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.742,0.9036,1KG_EUR_AF,PNPT1
435816,2:55882502:G>A,55882502,NM_033109.4,NM_033109.4:c.1442-414C>T,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.953,0.0209,1KG_EUR_AF,PNPT1
435817,2:55882516:A>G,55882516,NM_033109.4,NM_033109.4:c.1442-428T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.168,\N,\N,PNPT1
435818,2:55882518:G>T,55882518,NM_033109.4,NM_033109.4:c.1442-430C>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.305,0.001,1KG_SAS_AF,PNPT1
435819,2:55882547:GC>G,55882547,NM_033109.4,NM_033109.4:c.1442-460del,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435820,2:55882560:C>G,55882560,NM_033109.4,NM_033109.4:c.1442-472G>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.019,0.0008,1KG_AFR_AF,PNPT1
435821,2:55882565:A>C,55882565,NM_033109.4,NM_033109.4:c.1442-477T>G,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.168,0.5348,1KG_EUR_AF,PNPT1
435822,2:55882584:G>A,55882584,NM_033109.4,NM_033109.4:c.1442-496C>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.957,0.001,1KG_SAS_AF,PNPT1
435823,2:55882606:T>A,55882606,NM_033109.4,NM_033109.4:c.1442-518A>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.468,0.0015,1KG_AFR_AF,PNPT1
435824,2:55882652:A>G,55882652,NM_033109.4,NM_033109.4:c.1442-564T>C,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.895,0.0565,1KG_EAS_AF,PNPT1
435825,2:55882663:G>C,55882663,NM_033109.4,NM_033109.4:c.1442-575C>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.296,\N,\N,PNPT1
435826,2:55882672:T>C,55882672,NM_033109.4,NM_033109.4:c.1442-584A>G,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.455,0.9796,1KG_AFR_AF,PNPT1
435827,2:55882698:C>T,55882698,NM_033109.4,NM_033109.4:c.1441+568G>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.247,0.001,1KG_SAS_AF,PNPT1
435828,2:55882729:A>G,55882729,NM_033109.4,NM_033109.4:c.1441+537T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.388,\N,\N,PNPT1
435829,2:55882729:A>T,55882729,NM_033109.4,NM_033109.4:c.1441+537T>A,\N,\N,\N,17/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.192,1,1KG_EAS_AF,PNPT1
435830,2:55882744:C>T,55882744,NM_033109.4,NM_033109.4:c.1441+522G>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.802,0.0008,1KG_AFR_AF,PNPT1
435831,2:55882769:G>A,55882769,NM_033109.4,NM_033109.4:c.1441+497C>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.474,0.0045,1KG_AFR_AF,PNPT1
435832,2:55882785:C>T,55882785,NM_033109.4,NM_033109.4:c.1441+481G>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.904,0.0014,1KG_AMR_AF,PNPT1
435833,2:55882852:T>C,55882852,NM_033109.4,NM_033109.4:c.1441+414A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.06,0.0008,1KG_AFR_AF,PNPT1
435834,2:55882923:T>G,55882923,NM_033109.4,NM_033109.4:c.1441+343A>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.256,\N,\N,PNPT1
435835,2:55882955:T>C,55882955,NM_033109.4,NM_033109.4:c.1441+311A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.646,0.0008,1KG_AFR_AF,PNPT1
435836,2:55882968:G>A,55882968,NM_033109.4,NM_033109.4:c.1441+298C>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.722,0.004,1KG_EAS_AF,PNPT1
435837,2:55883035:G>T,55883035,NM_033109.4,NM_033109.4:c.1441+231C>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.99,\N,\N,PNPT1
435838,2:55883038:C>A,55883038,NM_033109.4,NM_033109.4:c.1441+228G>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.89,\N,\N,PNPT1
435839,2:55883043:A>G,55883043,NM_033109.4,NM_033109.4:c.1441+223T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.508,0.0014,1KG_AMR_AF,PNPT1
435840,2:55883103:A>G,55883103,NM_033109.4,NM_033109.4:c.1441+163T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.32,\N,\N,PNPT1
435841,2:55883106:G>A,55883106,NM_033109.4,NM_033109.4:c.1441+160C>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.222,\N,\N,PNPT1
435842,2:55883113:A>G,55883113,NM_033109.4,NM_033109.4:c.1441+153T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.161,\N,\N,PNPT1
435843,2:55883135:ATACAT>A,55883135,NM_033109.4,NM_033109.4:c.1441+126_1441+130del,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435844,2:55883159:T>C,55883159,NM_033109.4,NM_033109.4:c.1441+107A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.206,\N,\N,PNPT1
435845,2:55883212:T>C,55883212,NM_033109.4,NM_033109.4:c.1441+54A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.551,0.0015,1KG_AFR_AF,PNPT1
435846,2:55883213:A>G,55883213,NM_033109.4,NM_033109.4:c.1441+53T>C,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.12,\N,\N,PNPT1
435847,2:55883226:T>C,55883226,NM_033109.4,NM_033109.4:c.1441+40A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.974,0.0000156021,EXAC_NFE_AF,PNPT1
435848,2:55883230:C>A,55883230,NM_033109.4,NM_033109.4:c.1441+36G>T,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.692,0.001,1KG_EAS_AF,PNPT1
435849,2:55883241:T>C,55883241,NM_033109.4,NM_033109.4:c.1441+25A>G,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.152,0.0000153808,EXAC_NFE_AF,PNPT1
435850,2:55883241:TGAAA>T,55883241,NM_033109.4,NM_033109.4:c.1441+21_1441+24del,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.499,0.0000307617,EXAC_NFE_AF,PNPT1
435851,2:55883243:A>T,55883243,NM_033109.4,NM_033109.4:c.1441+23T>A,\N,\N,\N,17/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.952,0.0000153398,EXAC_NFE_AF,PNPT1
435852,2:55883247:AAGTATTTCAAT>A,55883247,NM_033109.4,NM_033109.4:c.1441+8_1441+18del,\N,\N,\N,17/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,10.53,\N,\N,PNPT1
435853,2:55883260:C>T,55883260,NM_033109.4,NM_033109.4:c.1441+6G>A,\N,\N,\N,17/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,7.032,0.000122175,EXAC_SAS_AF,PNPT1
435854,2:55883269:T>A,55883269,NM_033109.4,NM_033109.4:c.1438A>T,NP_149100.2:p.Asn480Tyr,480,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,29.3,\N,\N,PNPT1
435855,2:55883273:C>T,55883273,NM_033109.4,NM_033109.4:c.1434G>A,NP_149100.2:p.Glu478=,478,17/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,16.37,0.00011636,EVS_EA_AF,PNPT1
435856,2:55883275:C>G,55883275,NM_033109.4,NM_033109.4:c.1432G>C,NP_149100.2:p.Glu478Gln,478,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,30,0.000226963,EVS_AA_AF,PNPT1
435857,2:55883278:G>A,55883278,NM_033109.4,NM_033109.4:c.1429C>T,NP_149100.2:p.Leu477=,477,17/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.61,0.00575061,EXAC_FIN_AF,PNPT1
435858,2:55883283:T>C,55883283,NM_033109.4,NM_033109.4:c.1424A>G,NP_149100.2:p.Glu475Gly,475,17/28,\N,Pathogenic,Hearing loss,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,\N,\N,PNPT1
435859,2:55883300:G>A,55883300,NM_033109.4,NM_033109.4:c.1407C>T,NP_149100.2:p.Thr469=,469,17/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.91,0.000115607,EXAC_EAS_AF,PNPT1
435860,2:55883300:G>T,55883300,NM_033109.4,NM_033109.4:c.1407C>A,NP_149100.2:p.Thr469=,469,17/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.503,0.0000150231,EXAC_NFE_AF,PNPT1
435861,2:55883311:A>G,55883311,NM_033109.4,NM_033109.4:c.1396T>C,NP_149100.2:p.Phe466Leu,466,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,23.1,0.0000150177,EXAC_NFE_AF,PNPT1
435862,2:55883316:C>T,55883316,NM_033109.4,NM_033109.4:c.1391G>A,NP_149100.2:p.Arg464Gln,464,17/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,22.7,0.0000150182,EXAC_NFE_AF,PNPT1
435863,2:55883317:G>T,55883317,NM_033109.4,NM_033109.4:c.1390C>A,NP_149100.2:p.Arg464=,464,17/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,12.89,0.609314,EXAC_FIN_AF,PNPT1
435864,2:55883325:A>G,55883325,NM_033109.4,NM_033109.4:c.1382T>C,NP_149100.2:p.Val461Ala,461,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,24.2,0.000259246,EXAC_AMR_AF,PNPT1
435865,2:55883346:G>C,55883346,NM_033109.4,NM_033109.4:c.1361C>G,NP_149100.2:p.Ala454Gly,454,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,\N,\N,PNPT1
435866,2:55883350:G>A,55883350,NM_033109.4,NM_033109.4:c.1357C>T,NP_149100.2:p.Leu453Phe,453,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,29.7,0.000116279,EVS_EA_AF,PNPT1
435867,2:55883352:G>A,55883352,NM_033109.4,NM_033109.4:c.1355C>T,NP_149100.2:p.Ala452Val,452,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,33,0.0000150029,EXAC_NFE_AF,PNPT1
435868,2:55883352:G>C,55883352,NM_033109.4,NM_033109.4:c.1355C>G,NP_149100.2:p.Ala452Gly,452,17/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,29.6,0.000116279,EVS_EA_AF,PNPT1
435869,2:55883360:A>G,55883360,NM_033109.4,NM_033109.4:c.1352-5T>C,\N,\N,\N,16/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,11.72,0.000259426,EXAC_AMR_AF,PNPT1
435870,2:55883364:G>A,55883364,NM_033109.4,NM_033109.4:c.1352-9C>T,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.76,\N,\N,PNPT1
435871,2:55883372:A>AAC,55883372,NM_033109.4,NM_033109.4:c.1352-19_1352-18dup,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435872,2:55883376:A>G,55883376,NM_033109.4,NM_033109.4:c.1352-21T>C,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.02,0.0000865202,EXAC_AMR_AF,PNPT1
435873,2:55883379:A>C,55883379,NM_033109.4,NM_033109.4:c.1352-24T>G,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.49,0.00001502,EXAC_NFE_AF,PNPT1
435874,2:55883389:G>A,55883389,NM_033109.4,NM_033109.4:c.1352-34C>T,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.835,0.001,1KG_EAS_AF,PNPT1
435875,2:55883392:TTAAGTCTCTG>T,55883392,NM_033109.4,NM_033109.4:c.1351+38_1352-38del,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.579,0.000604961,EXAC_FIN_AF,PNPT1
435876,2:55883395:AG>A,55883395,NM_033109.4,NM_033109.4:c.1352-41del,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.088,\N,\N,PNPT1
435877,2:55883405:A>G,55883405,NM_033109.4,NM_033109.4:c.1351+35T>C,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.476,0.001,1KG_EAS_AF,PNPT1
435878,2:55883412:C>T,55883412,NM_033109.4,NM_033109.4:c.1351+28G>A,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.123,0.0000150213,EXAC_NFE_AF,PNPT1
435879,2:55883413:G>A,55883413,NM_033109.4,NM_033109.4:c.1351+27C>T,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.206,0.000116333,EVS_EA_AF,PNPT1
435880,2:55883416:T>C,55883416,NM_033109.4,NM_033109.4:c.1351+24A>G,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.362,0.0000600583,EXAC_NFE_AF,PNPT1
435881,2:55883417:T>G,55883417,NM_033109.4,NM_033109.4:c.1351+23A>C,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.406,\N,\N,PNPT1
435882,2:55883419:A>G,55883419,NM_033109.4,NM_033109.4:c.1351+21T>C,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.403,0.0008,1KG_AFR_AF,PNPT1
435883,2:55883425:C>T,55883425,NM_033109.4,NM_033109.4:c.1351+15G>A,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.75,0.0000300255,EXAC_NFE_AF,PNPT1
435884,2:55883427:G>A,55883427,NM_033109.4,NM_033109.4:c.1351+13C>T,\N,\N,\N,16/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.642,0.0000972952,EXAC_AFR_AF,PNPT1
435885,2:55883438:A>G,55883438,NM_033109.4,NM_033109.4:c.1351+2T>C,\N,\N,\N,16/27,Unknown significance,\N,splice_donor_variant,HIGH,\N,\N,25.2,0.000116306,EVS_EA_AF,PNPT1
435886,2:55883448:A>G,55883448,NM_033109.4,NM_033109.4:c.1343T>C,NP_149100.2:p.Leu448Pro,448,16/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,0.00015124,EXAC_FIN_AF,PNPT1
435887,2:55883449:G>T,55883449,NM_033109.4,NM_033109.4:c.1342C>A,NP_149100.2:p.Leu448Ile,448,16/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,19.35,0.0000865202,EXAC_AMR_AF,PNPT1
435888,2:55883450:T>G,55883450,NM_033109.4,NM_033109.4:c.1341A>C,NP_149100.2:p.Glu447Asp,447,16/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.1,\N,\N,PNPT1
435889,2:55883453:T>C,55883453,NM_033109.4,NM_033109.4:c.1338A>G,NP_149100.2:p.Arg446=,446,16/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.242,0.0000300201,EXAC_NFE_AF,PNPT1
435890,2:55883465:A>G,55883465,NM_033109.4,NM_033109.4:c.1326T>C,NP_149100.2:p.Gly442=,442,16/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.638,0.0000300255,EXAC_NFE_AF,PNPT1
435891,2:55883471:G>A,55883471,NM_033109.4,NM_033109.4:c.1320C>T,NP_149100.2:p.Val440=,440,16/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.03,0.000015015,EXAC_NFE_AF,PNPT1
435892,2:55883478:C>A,55883478,NM_033109.4,NM_033109.4:c.1313G>T,NP_149100.2:p.Gly438Val,438,16/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.0000606281,EXAC_SAS_AF,PNPT1
435893,2:55883486:A>G,55883486,NM_033109.4,NM_033109.4:c.1305T>C,NP_149100.2:p.Asn435=,435,16/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.378,0.0000150371,EXAC_NFE_AF,PNPT1
435894,2:55883490:G>T,55883490,NM_033109.4,NM_033109.4:c.1301C>A,NP_149100.2:p.Thr434Asn,434,16/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.3,0.0000150593,EXAC_NFE_AF,PNPT1
435895,2:55883491:T>A,55883491,NM_033109.4,NM_033109.4:c.1300A>T,NP_149100.2:p.Thr434Ser,434,16/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.3,0.0000150593,EXAC_NFE_AF,PNPT1
435896,2:55883492:T>C,55883492,NM_033109.4,NM_033109.4:c.1299A>G,NP_149100.2:p.Ala433=,433,16/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.906,0.000151515,EXAC_FIN_AF,PNPT1
435897,2:55883495:A>G,55883495,NM_033109.4,NM_033109.4:c.1296T>C,NP_149100.2:p.Tyr432=,432,16/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.562,0.0000991277,EXAC_AFR_AF,PNPT1
435898,2:55883507:C>A,55883507,NM_033109.4,NM_033109.4:c.1285-1G>T,\N,\N,\N,15/27,Unknown significance,\N,splice_acceptor_variant,HIGH,\N,\N,27.4,\N,\N,PNPT1
435899,2:55883507:CTT>C,55883507,NM_033109.4,NM_033109.4:c.1285-3_1285-2del,\N,\N,\N,15/27,Unknown significance,\N,splice_acceptor_variant&intron_variant,HIGH,\N,\N,25.3,\N,\N,PNPT1
435900,2:55883509:T>TA,55883509,NM_033109.4,NM_033109.4:c.1285-4dup,\N,\N,\N,15/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,11.48,0.19359,EXAC_SAS_AF,PNPT1
435901,2:55883509:T>TAA,55883509,NM_033109.4,NM_033109.4:c.1285-5_1285-4dup,\N,\N,\N,15/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,\N,0.00184502,EXAC_OTH_AF,PNPT1
435902,2:55883509:TA>T,55883509,NM_033109.4,NM_033109.4:c.1285-4del,\N,\N,\N,15/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.29,0.253831,EXAC_AMR_AF,PNPT1
435903,2:55883509:TAA>T,55883509,NM_033109.4,NM_033109.4:c.1285-5_1285-4del,\N,\N,\N,15/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.86,0.001499,EXAC_AMR_AF,PNPT1
435904,2:55883509:TAAA>T,55883509,NM_033109.4,NM_033109.4:c.1285-6_1285-4del,\N,\N,\N,15/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,15.55,0.000099226,EXAC_SAS_AF,PNPT1
435905,2:55883520:A>C,55883520,NM_033109.4,NM_033109.4:c.1285-14T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.32,0.000104778,EXAC_AFR_AF,PNPT1
435906,2:55883521:A>C,55883521,NM_033109.4,NM_033109.4:c.1285-15T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.1,0.0000326851,EXAC_NFE_AF,PNPT1
435907,2:55883521:A>T,55883521,NM_033109.4,NM_033109.4:c.1285-15T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.65,0.00116009,EXAC_OTH_AF,PNPT1
435908,2:55883522:A>C,55883522,NM_033109.4,NM_033109.4:c.1285-16T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.33,\N,\N,PNPT1
435909,2:55883526:A>C,55883526,NM_033109.4,NM_033109.4:c.1285-20T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.987,0.00042526,EXAC_AFR_AF,PNPT1
435910,2:55883528:A>G,55883528,NM_033109.4,NM_033109.4:c.1285-22T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.73,0.0000166817,EXAC_NFE_AF,PNPT1
435911,2:55883532:A>G,55883532,NM_033109.4,NM_033109.4:c.1285-26T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.444,0.0000334728,EXAC_NFE_AF,PNPT1
435912,2:55883535:T>A,55883535,NM_033109.4,NM_033109.4:c.1285-29A>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.354,\N,\N,PNPT1
435913,2:55883536:A>G,55883536,NM_033109.4,NM_033109.4:c.1285-30T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.751,0.000188324,EXAC_AMR_AF,PNPT1
435914,2:55883537:T>C,55883537,NM_033109.4,NM_033109.4:c.1285-31A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.797,0.000258065,EXAC_EAS_AF,PNPT1
435915,2:55883540:A>T,55883540,NM_033109.4,NM_033109.4:c.1285-34T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.178,0.001,1KG_EAS_AF,PNPT1
435916,2:55883541:A>G,55883541,NM_033109.4,NM_033109.4:c.1285-35T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.314,0.001,1KG_SAS_AF,PNPT1
435917,2:55883544:G>A,55883544,NM_033109.4,NM_033109.4:c.1285-38C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.516,0.0000174283,EXAC_NFE_AF,PNPT1
435918,2:55883545:A>C,55883545,NM_033109.4,NM_033109.4:c.1285-39T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.885,0.0000173756,EXAC_NFE_AF,PNPT1
435919,2:55883554:G>T,55883554,NM_033109.4,NM_033109.4:c.1285-48C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.221,0.0000647501,EXAC_SAS_AF,PNPT1
435920,2:55883565:T>C,55883565,NM_033109.4,NM_033109.4:c.1285-59A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.529,0.005,1KG_EUR_AF,PNPT1
435921,2:55883567:T>A,55883567,NM_033109.4,NM_033109.4:c.1285-61A>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.361,0.001,1KG_SAS_AF,PNPT1
435922,2:55883583:AAAC>A,55883583,NM_033109.4,NM_033109.4:c.1285-80_1285-78del,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
435923,2:55883593:T>C,55883593,NM_033109.4,NM_033109.4:c.1285-87A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.337,0.001,1KG_EAS_AF,PNPT1
435924,2:55883595:G>T,55883595,NM_033109.4,NM_033109.4:c.1285-89C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.419,\N,\N,PNPT1
435925,2:55883653:C>T,55883653,NM_033109.4,NM_033109.4:c.1285-147G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.946,\N,\N,PNPT1
435926,2:55883684:T>C,55883684,NM_033109.4,NM_033109.4:c.1285-178A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.821,0.0015,1KG_AFR_AF,PNPT1
435927,2:55883695:A>G,55883695,NM_033109.4,NM_033109.4:c.1285-189T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.285,0.0029,1KG_AMR_AF,PNPT1
435928,2:55883713:C>A,55883713,NM_033109.4,NM_033109.4:c.1285-207G>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.167,0.9818,1KG_AFR_AF,PNPT1
435929,2:55883730:G>A,55883730,NM_033109.4,NM_033109.4:c.1285-224C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.622,\N,\N,PNPT1
435930,2:55883733:C>A,55883733,NM_033109.4,NM_033109.4:c.1285-227G>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.27,0.3185,1KG_EAS_AF,PNPT1
435931,2:55883736:G>A,55883736,NM_033109.4,NM_033109.4:c.1285-230C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.776,\N,\N,PNPT1
435932,2:55883774:T>C,55883774,NM_033109.4,NM_033109.4:c.1285-268A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.134,0.002,1KG_EAS_AF,PNPT1
435933,2:55883794:G>A,55883794,NM_033109.4,NM_033109.4:c.1285-288C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.926,\N,\N,PNPT1
435934,2:55883805:G>C,55883805,NM_033109.4,NM_033109.4:c.1285-299C>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.431,0.0038,1KG_AFR_AF,PNPT1
435935,2:55883856:A>G,55883856,NM_033109.4,NM_033109.4:c.1285-350T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.271,\N,\N,PNPT1
435936,2:55883878:C>T,55883878,NM_033109.4,NM_033109.4:c.1285-372G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.925,\N,\N,PNPT1
435937,2:55883882:A>T,55883882,NM_033109.4,NM_033109.4:c.1285-376T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.673,\N,\N,PNPT1
435938,2:55883887:T>C,55883887,NM_033109.4,NM_033109.4:c.1285-381A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.138,\N,\N,PNPT1
435939,2:55883924:T>C,55883924,NM_033109.4,NM_033109.4:c.1285-418A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.431,\N,\N,PNPT1
435940,2:55883932:A>C,55883932,NM_033109.4,NM_033109.4:c.1285-426T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.076,0.001,1KG_EAS_AF,PNPT1
435941,2:55883955:G>T,55883955,NM_033109.4,NM_033109.4:c.1285-449C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.789,\N,\N,PNPT1
435942,2:55883969:T>C,55883969,NM_033109.4,NM_033109.4:c.1285-463A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.88,\N,\N,PNPT1
435943,2:55883987:G>A,55883987,NM_033109.4,NM_033109.4:c.1285-481C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.324,\N,\N,PNPT1
435944,2:55884009:A>G,55884009,NM_033109.4,NM_033109.4:c.1285-503T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.03,0.0038,1KG_AFR_AF,PNPT1
435945,2:55884021:T>C,55884021,NM_033109.4,NM_033109.4:c.1285-515A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.473,0.0051,1KG_SAS_AF,PNPT1
435946,2:55884031:G>A,55884031,NM_033109.4,NM_033109.4:c.1285-525C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.468,0.4047,1KG_AFR_AF,PNPT1
435947,2:55884060:G>A,55884060,NM_033109.4,NM_033109.4:c.1285-554C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.301,0.0008,1KG_AFR_AF,PNPT1
435948,2:55884061:G>T,55884061,NM_033109.4,NM_033109.4:c.1285-555C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.923,\N,\N,PNPT1
435949,2:55884106:T>A,55884106,NM_033109.4,NM_033109.4:c.1285-600A>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.801,0.411,1KG_SAS_AF,PNPT1
435950,2:55884129:T>C,55884129,NM_033109.4,NM_033109.4:c.1285-623A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.288,0.0058,1KG_AMR_AF,PNPT1
435951,2:55884149:T>C,55884149,NM_033109.4,NM_033109.4:c.1285-643A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.68,\N,\N,PNPT1
435952,2:55884182:G>A,55884182,NM_033109.4,NM_033109.4:c.1285-676C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.567,0.0029,1KG_AMR_AF,PNPT1
435953,2:55884185:C>T,55884185,NM_033109.4,NM_033109.4:c.1285-679G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.535,0.003,1KG_EAS_AF,PNPT1
435954,2:55884190:G>A,55884190,NM_033109.4,NM_033109.4:c.1285-684C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.428,0.0008,1KG_AFR_AF,PNPT1
435955,2:55884200:A>G,55884200,NM_033109.4,NM_033109.4:c.1285-694T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.902,\N,\N,PNPT1
435956,2:55884252:T>A,55884252,NM_033109.4,NM_033109.4:c.1285-746A>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.993,0.5795,1KG_EUR_AF,PNPT1
435957,2:55884309:G>A,55884309,NM_033109.4,NM_033109.4:c.1285-803C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.082,0.002,1KG_EAS_AF,PNPT1
435958,2:55884325:G>A,55884325,NM_033109.4,NM_033109.4:c.1285-819C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.058,\N,\N,PNPT1
435959,2:55884359:G>A,55884359,NM_033109.4,NM_033109.4:c.1285-853C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.313,0.0014,1KG_AMR_AF,PNPT1
435960,2:55884363:C>T,55884363,NM_033109.4,NM_033109.4:c.1285-857G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.251,0.5785,1KG_EUR_AF,PNPT1
435961,2:55884389:A>C,55884389,NM_033109.4,NM_033109.4:c.1285-883T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.417,0.001,1KG_SAS_AF,PNPT1
435962,2:55884399:G>A,55884399,NM_033109.4,NM_033109.4:c.1285-893C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.555,0.001,1KG_EAS_AF,PNPT1
435963,2:55884461:A>G,55884461,NM_033109.4,NM_033109.4:c.1285-955T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.879,0.0023,1KG_AFR_AF,PNPT1
435964,2:55884467:G>GA,55884467,NM_033109.4,NM_033109.4:c.1285-962dup,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.264,\N,\N,PNPT1
435965,2:55884487:A>G,55884487,NM_033109.4,NM_033109.4:c.1285-981T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.61,0.0008,1KG_AFR_AF,PNPT1
435966,2:55884496:A>G,55884496,NM_033109.4,NM_033109.4:c.1285-990T>C,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.525,0.0119,1KG_EAS_AF,PNPT1
435967,2:55884497:T>C,55884497,NM_033109.4,NM_033109.4:c.1285-991A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.003,0.003,1KG_AFR_AF,PNPT1
435968,2:55884539:T>G,55884539,NM_033109.4,NM_033109.4:c.1285-1033A>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.166,\N,\N,PNPT1
435969,2:55884574:C>T,55884574,NM_033109.4,NM_033109.4:c.1285-1068G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.367,0.0014,1KG_AMR_AF,PNPT1
435970,2:55884575:G>A,55884575,NM_033109.4,NM_033109.4:c.1285-1069C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.093,0.001,1KG_SAS_AF,PNPT1
435971,2:55884584:T>C,55884584,NM_033109.4,NM_033109.4:c.1285-1078A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.3,\N,\N,PNPT1
435972,2:55884609:T>C,55884609,NM_033109.4,NM_033109.4:c.1285-1103A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.377,0.9811,1KG_AFR_AF,PNPT1
435973,2:55884673:C>A,55884673,NM_033109.4,NM_033109.4:c.1285-1167G>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.675,0.001,1KG_EAS_AF,PNPT1
435974,2:55884713:G>C,55884713,NM_033109.4,NM_033109.4:c.1285-1207C>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.309,\N,\N,PNPT1
435975,2:55884728:T>C,55884728,NM_033109.4,NM_033109.4:c.1285-1222A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.545,0.37,1KG_EAS_AF,PNPT1
435976,2:55884731:G>C,55884731,NM_033109.4,NM_033109.4:c.1285-1225C>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.452,0.001,1KG_EAS_AF|1KG_EUR_AF,PNPT1
435977,2:55884754:C>T,55884754,NM_033109.4,NM_033109.4:c.1285-1248G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.476,0.002,1KG_EAS_AF,PNPT1
435978,2:55884767:C>T,55884767,NM_033109.4,NM_033109.4:c.1285-1261G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.358,0.0072,1KG_AMR_AF,PNPT1
435979,2:55884773:G>A,55884773,NM_033109.4,NM_033109.4:c.1285-1267C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.133,\N,\N,PNPT1
435980,2:55884782:A>G,55884782,NM_033109.4,NM_033109.4:c.1285-1276T>C,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.161,0.0068,1KG_AFR_AF,PNPT1
435981,2:55884810:C>T,55884810,NM_033109.4,NM_033109.4:c.1285-1304G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.476,0.002,1KG_EAS_AF,PNPT1
435982,2:55884820:T>A,55884820,NM_033109.4,NM_033109.4:c.1285-1314A>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.372,0.0031,1KG_SAS_AF,PNPT1
435983,2:55884837:G>C,55884837,NM_033109.4,NM_033109.4:c.1285-1331C>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.363,0.0023,1KG_AFR_AF,PNPT1
435984,2:55884841:C>T,55884841,NM_033109.4,NM_033109.4:c.1285-1335G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.14,\N,\N,PNPT1
435985,2:55884843:G>A,55884843,NM_033109.4,NM_033109.4:c.1285-1337C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,13.05,0.0091,1KG_AFR_AF,PNPT1
435986,2:55884844:A>T,55884844,NM_033109.4,NM_033109.4:c.1285-1338T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.61,\N,\N,PNPT1
435987,2:55884863:C>T,55884863,NM_033109.4,NM_033109.4:c.1285-1357G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.18,\N,\N,PNPT1
435988,2:55884864:G>A,55884864,NM_033109.4,NM_033109.4:c.1285-1358C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.26,0.4039,1KG_AFR_AF,PNPT1
435989,2:55884883:G>A,55884883,NM_033109.4,NM_033109.4:c.1285-1377C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.705,\N,\N,PNPT1
435990,2:55884911:A>C,55884911,NM_033109.4,NM_033109.4:c.1285-1405T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.401,\N,\N,PNPT1
435991,2:55884918:G>A,55884918,NM_033109.4,NM_033109.4:c.1285-1412C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.304,\N,\N,PNPT1
435992,2:55884961:A>T,55884961,NM_033109.4,NM_033109.4:c.1285-1455T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.27,0.0014,1KG_AMR_AF,PNPT1
435993,2:55884966:C>T,55884966,NM_033109.4,NM_033109.4:c.1285-1460G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.258,\N,\N,PNPT1
435994,2:55884999:A>G,55884999,NM_033109.4,NM_033109.4:c.1285-1493T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.04,\N,\N,PNPT1
435995,2:55884999:A>T,55884999,NM_033109.4,NM_033109.4:c.1285-1493T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.422,\N,\N,PNPT1
435996,2:55885039:G>A,55885039,NM_033109.4,NM_033109.4:c.1285-1533C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.73,\N,\N,PNPT1
435997,2:55885054:G>A,55885054,NM_033109.4,NM_033109.4:c.1285-1548C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.425,0.5377,1KG_EAS_AF,PNPT1
435998,2:55885085:A>G,55885085,NM_033109.4,NM_033109.4:c.1285-1579T>C,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.976,0.2698,1KG_EAS_AF,PNPT1
435999,2:55885094:C>T,55885094,NM_033109.4,NM_033109.4:c.1285-1588G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.424,\N,\N,PNPT1
436000,2:55885100:T>C,55885100,NM_033109.4,NM_033109.4:c.1285-1594A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.185,0.0008,1KG_AFR_AF,PNPT1
436001,2:55885101:A>C,55885101,NM_033109.4,NM_033109.4:c.1285-1595T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.048,0.001,1KG_EUR_AF,PNPT1
436002,2:55885124:G>GCA,55885124,NM_033109.4,NM_033109.4:c.1285-1620_1285-1619dup,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436003,2:55885135:G>A,55885135,NM_033109.4,NM_033109.4:c.1285-1629C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.358,\N,\N,PNPT1
436004,2:55885178:G>C,55885178,NM_033109.4,NM_033109.4:c.1285-1672C>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.595,0.0008,1KG_AFR_AF,PNPT1
436005,2:55885198:C>T,55885198,NM_033109.4,NM_033109.4:c.1285-1692G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.835,0.0008,1KG_AFR_AF,PNPT1
436006,2:55885202:A>T,55885202,NM_033109.4,NM_033109.4:c.1285-1696T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.017,0.001,1KG_EAS_AF,PNPT1
436007,2:55885228:G>A,55885228,NM_033109.4,NM_033109.4:c.1285-1722C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.443,0.0083,1KG_AFR_AF,PNPT1
436008,2:55885238:G>T,55885238,NM_033109.4,NM_033109.4:c.1285-1732C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.772,\N,\N,PNPT1
436009,2:55885259:T>C,55885259,NM_033109.4,NM_033109.4:c.1285-1753A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.637,\N,\N,PNPT1
436010,2:55885263:G>A,55885263,NM_033109.4,NM_033109.4:c.1285-1757C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.071,0.0068,1KG_AFR_AF,PNPT1
436011,2:55885329:C>T,55885329,NM_033109.4,NM_033109.4:c.1285-1823G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.459,0.0008,1KG_AFR_AF,PNPT1
436012,2:55885359:C>G,55885359,NM_033109.4,NM_033109.4:c.1285-1853G>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.64,0.0008,1KG_AFR_AF,PNPT1
436013,2:55885426:A>C,55885426,NM_033109.4,NM_033109.4:c.1284+1866T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.607,\N,\N,PNPT1
436014,2:55885432:G>A,55885432,NM_033109.4,NM_033109.4:c.1284+1860C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.315,0.0008,1KG_AFR_AF,PNPT1
436015,2:55885502:A>C,55885502,NM_033109.4,NM_033109.4:c.1284+1790T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.416,\N,\N,PNPT1
436016,2:55885508:C>T,55885508,NM_033109.4,NM_033109.4:c.1284+1784G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.364,0.1237,1KG_SAS_AF,PNPT1
436017,2:55885511:C>T,55885511,NM_033109.4,NM_033109.4:c.1284+1781G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.149,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PNPT1
436018,2:55885512:G>A,55885512,NM_033109.4,NM_033109.4:c.1284+1780C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.867,\N,\N,PNPT1
436019,2:55885521:G>T,55885521,NM_033109.4,NM_033109.4:c.1284+1771C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.166,\N,\N,PNPT1
436020,2:55885610:T>C,55885610,NM_033109.4,NM_033109.4:c.1284+1682A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.792,\N,\N,PNPT1
436021,2:55885621:A>G,55885621,NM_033109.4,NM_033109.4:c.1284+1671T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.031,\N,\N,PNPT1
436022,2:55885626:G>A,55885626,NM_033109.4,NM_033109.4:c.1284+1666C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.846,0.005,1KG_EUR_AF,PNPT1
436023,2:55885642:T>C,55885642,NM_033109.4,NM_033109.4:c.1284+1650A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.284,\N,\N,PNPT1
436024,2:55885669:T>A,55885669,NM_033109.4,NM_033109.4:c.1284+1623A>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.886,\N,\N,PNPT1
436025,2:55885677:A>C,55885677,NM_033109.4,NM_033109.4:c.1284+1615T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.571,\N,\N,PNPT1
436026,2:55885700:T>C,55885700,NM_033109.4,NM_033109.4:c.1284+1592A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.645,0.0008,1KG_AFR_AF,PNPT1
436027,2:55885744:C>A,55885744,NM_033109.4,NM_033109.4:c.1284+1548G>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.32,0.001,1KG_EAS_AF,PNPT1
436028,2:55885758:C>T,55885758,NM_033109.4,NM_033109.4:c.1284+1534G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.27,0.001,1KG_EUR_AF,PNPT1
436029,2:55885791:T>A,55885791,NM_033109.4,NM_033109.4:c.1284+1501A>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.352,\N,\N,PNPT1
436030,2:55885950:T>C,55885950,NM_033109.4,NM_033109.4:c.1284+1342A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.387,0.0015,1KG_AFR_AF,PNPT1
436031,2:55885984:A>T,55885984,NM_033109.4,NM_033109.4:c.1284+1308T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.874,\N,\N,PNPT1
436032,2:55886060:T>C,55886060,NM_033109.4,NM_033109.4:c.1284+1232A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.846,0.0008,1KG_AFR_AF,PNPT1
436033,2:55886088:T>A,55886088,NM_033109.4,NM_033109.4:c.1284+1204A>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.503,\N,\N,PNPT1
436034,2:55886101:A>C,55886101,NM_033109.4,NM_033109.4:c.1284+1191T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.003,0.0008,1KG_AFR_AF,PNPT1
436035,2:55886138:G>A,55886138,NM_033109.4,NM_033109.4:c.1284+1154C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.873,0.0014,1KG_AMR_AF,PNPT1
436036,2:55886144:C>T,55886144,NM_033109.4,NM_033109.4:c.1284+1148G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.574,0.0106,1KG_AFR_AF,PNPT1
436037,2:55886145:G>A,55886145,NM_033109.4,NM_033109.4:c.1284+1147C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.028,0.005,1KG_EUR_AF,PNPT1
436038,2:55886147:C>T,55886147,NM_033109.4,NM_033109.4:c.1284+1145G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.075,\N,\N,PNPT1
436039,2:55886151:G>A,55886151,NM_033109.4,NM_033109.4:c.1284+1141C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.533,0.0008,1KG_AFR_AF,PNPT1
436040,2:55886156:A>C,55886156,NM_033109.4,NM_033109.4:c.1284+1136T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.061,\N,\N,PNPT1
436041,2:55886156:A>T,55886156,NM_033109.4,NM_033109.4:c.1284+1136T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.104,\N,\N,PNPT1
436042,2:55886214:C>T,55886214,NM_033109.4,NM_033109.4:c.1284+1078G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.192,0.0053,1KG_AFR_AF,PNPT1
436043,2:55886221:C>A,55886221,NM_033109.4,NM_033109.4:c.1284+1071G>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.7,0.002,1KG_EAS_AF,PNPT1
436044,2:55886230:T>C,55886230,NM_033109.4,NM_033109.4:c.1284+1062A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.552,\N,\N,PNPT1
436045,2:55886248:C>G,55886248,NM_033109.4,NM_033109.4:c.1284+1044G>C,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.769,0.0112,1KG_SAS_AF,PNPT1
436046,2:55886284:T>C,55886284,NM_033109.4,NM_033109.4:c.1284+1008A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.528,\N,\N,PNPT1
436047,2:55886426:A>C,55886426,NM_033109.4,NM_033109.4:c.1284+866T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.583,\N,\N,PNPT1
436048,2:55886431:A>G,55886431,NM_033109.4,NM_033109.4:c.1284+861T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.549,\N,\N,PNPT1
436049,2:55886505:A>G,55886505,NM_033109.4,NM_033109.4:c.1284+787T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.888,0.001,1KG_EUR_AF,PNPT1
436050,2:55886506:T>C,55886506,NM_033109.4,NM_033109.4:c.1284+786A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.973,0.0072,1KG_SAS_AF,PNPT1
436051,2:55886521:C>T,55886521,NM_033109.4,NM_033109.4:c.1284+771G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.304,\N,\N,PNPT1
436052,2:55886522:T>C,55886522,NM_033109.4,NM_033109.4:c.1284+770A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.794,0.0123,1KG_SAS_AF,PNPT1
436053,2:55886527:G>A,55886527,NM_033109.4,NM_033109.4:c.1284+765C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.23,0.001,1KG_SAS_AF,PNPT1
436054,2:55886533:T>C,55886533,NM_033109.4,NM_033109.4:c.1284+759A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.785,0.0014,1KG_AMR_AF,PNPT1
436055,2:55886534:CT>C,55886534,NM_033109.4,NM_033109.4:c.1284+757del,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436056,2:55886602:T>C,55886602,NM_033109.4,NM_033109.4:c.1284+690A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.122,0.5338,1KG_EUR_AF,PNPT1
436057,2:55886640:G>A,55886640,NM_033109.4,NM_033109.4:c.1284+652C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.602,0.001,1KG_EAS_AF,PNPT1
436058,2:55886656:CTT>C,55886656,NM_033109.4,NM_033109.4:c.1284+634_1284+635del,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.178,0.41,1KG_AFR_AF,PNPT1
436059,2:55886660:T>C,55886660,NM_033109.4,NM_033109.4:c.1284+632A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.536,\N,\N,PNPT1
436060,2:55886708:G>A,55886708,NM_033109.4,NM_033109.4:c.1284+584C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.492,\N,\N,PNPT1
436061,2:55886708:G>C,55886708,NM_033109.4,NM_033109.4:c.1284+584C>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.15,0.0008,1KG_AFR_AF,PNPT1
436062,2:55886717:A>G,55886717,NM_033109.4,NM_033109.4:c.1284+575T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.303,\N,\N,PNPT1
436063,2:55886754:C>T,55886754,NM_033109.4,NM_033109.4:c.1284+538G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.909,0.004,1KG_EAS_AF,PNPT1
436064,2:55886776:A>G,55886776,NM_033109.4,NM_033109.4:c.1284+516T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.22,0.001,1KG_EUR_AF|1KG_SAS_AF,PNPT1
436065,2:55886780:C>T,55886780,NM_033109.4,NM_033109.4:c.1284+512G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.795,0.41,1KG_SAS_AF,PNPT1
436066,2:55886793:C>T,55886793,NM_033109.4,NM_033109.4:c.1284+499G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.16,0.005,1KG_EAS_AF,PNPT1
436067,2:55886848:T>C,55886848,NM_033109.4,NM_033109.4:c.1284+444A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.134,0.001,1KG_EUR_AF,PNPT1
436068,2:55886849:C>T,55886849,NM_033109.4,NM_033109.4:c.1284+443G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.288,0.001,1KG_EUR_AF,PNPT1
436069,2:55886862:G>A,55886862,NM_033109.4,NM_033109.4:c.1284+430C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.16,0.001,1KG_EAS_AF,PNPT1
436070,2:55886871:G>A,55886871,NM_033109.4,NM_033109.4:c.1284+421C>T,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.734,0.4085,1KG_AFR_AF,PNPT1
436071,2:55886910:T>G,55886910,NM_033109.4,NM_033109.4:c.1284+382A>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.668,\N,\N,PNPT1
436072,2:55886920:T>C,55886920,NM_033109.4,NM_033109.4:c.1284+372A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.903,0.0008,1KG_AFR_AF,PNPT1
436073,2:55886923:G>A,55886923,NM_033109.4,NM_033109.4:c.1284+369C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.499,0.0023,1KG_AFR_AF,PNPT1
436074,2:55886949:T>C,55886949,NM_033109.4,NM_033109.4:c.1284+343A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.948,0.0014,1KG_AMR_AF,PNPT1
436075,2:55886969:G>A,55886969,NM_033109.4,NM_033109.4:c.1284+323C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.567,0.002,1KG_EAS_AF,PNPT1
436076,2:55886975:T>C,55886975,NM_033109.4,NM_033109.4:c.1284+317A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.666,0.003,1KG_AFR_AF,PNPT1
436077,2:55887002:C>T,55887002,NM_033109.4,NM_033109.4:c.1284+290G>A,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.955,0.0076,1KG_AFR_AF,PNPT1
436078,2:55887003:T>A,55887003,NM_033109.4,NM_033109.4:c.1284+289A>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.692,\N,\N,PNPT1
436079,2:55887013:C>A,55887013,NM_033109.4,NM_033109.4:c.1284+279G>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.019,0.0045,1KG_AFR_AF,PNPT1
436080,2:55887017:G>T,55887017,NM_033109.4,NM_033109.4:c.1284+275C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.715,\N,\N,PNPT1
436081,2:55887049:G>C,55887049,NM_033109.4,NM_033109.4:c.1284+243C>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.59,0.0014,1KG_AMR_AF,PNPT1
436082,2:55887055:T>C,55887055,NM_033109.4,NM_033109.4:c.1284+237A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.31,\N,\N,PNPT1
436083,2:55887073:A>T,55887073,NM_033109.4,NM_033109.4:c.1284+219T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.97,\N,\N,PNPT1
436084,2:55887075:A>G,55887075,NM_033109.4,NM_033109.4:c.1284+217T>C,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,14.91,0.0101,1KG_AMR_AF,PNPT1
436085,2:55887082:T>C,55887082,NM_033109.4,NM_033109.4:c.1284+210A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.89,\N,\N,PNPT1
436086,2:55887098:T>G,55887098,NM_033109.4,NM_033109.4:c.1284+194A>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.7,0.001,1KG_SAS_AF,PNPT1
436087,2:55887100:G>A,55887100,NM_033109.4,NM_033109.4:c.1284+192C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.307,0.0008,1KG_AFR_AF,PNPT1
436088,2:55887145:G>A,55887145,NM_033109.4,NM_033109.4:c.1284+147C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.76,0.0014,1KG_AMR_AF,PNPT1
436089,2:55887160:GC>G,55887160,NM_033109.4,NM_033109.4:c.1284+131del,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,14.14,0.0497,1KG_EUR_AF,PNPT1
436090,2:55887176:T>C,55887176,NM_033109.4,NM_033109.4:c.1284+116A>G,\N,\N,\N,15/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.76,0.4141,1KG_SAS_AF,PNPT1
436091,2:55887181:G>T,55887181,NM_033109.4,NM_033109.4:c.1284+111C>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.33,\N,\N,PNPT1
436092,2:55887190:G>A,55887190,NM_033109.4,NM_033109.4:c.1284+102C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.89,\N,\N,PNPT1
436093,2:55887192:C>A,55887192,NM_033109.4,NM_033109.4:c.1284+100G>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.4,0.002,1KG_SAS_AF,PNPT1
436094,2:55887203:C>T,55887203,NM_033109.4,NM_033109.4:c.1284+89G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.613,\N,\N,PNPT1
436095,2:55887205:C>G,55887205,NM_033109.4,NM_033109.4:c.1284+87G>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.97,0.001,1KG_SAS_AF,PNPT1
436096,2:55887209:A>T,55887209,NM_033109.4,NM_033109.4:c.1284+83T>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.409,\N,\N,PNPT1
436097,2:55887224:G>A,55887224,NM_033109.4,NM_033109.4:c.1284+68C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.168,0.001,1KG_EAS_AF,PNPT1
436098,2:55887230:C>T,55887230,NM_033109.4,NM_033109.4:c.1284+62G>A,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.973,\N,\N,PNPT1
436099,2:55887232:T>G,55887232,NM_033109.4,NM_033109.4:c.1284+60A>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.724,0.0014,1KG_AMR_AF,PNPT1
436100,2:55887234:G>A,55887234,NM_033109.4,NM_033109.4:c.1284+58C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.817,0.0008,1KG_AFR_AF,PNPT1
436101,2:55887246:T>C,55887246,NM_033109.4,NM_033109.4:c.1284+46A>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.556,0.0001288,EVS_EA_AF,PNPT1
436102,2:55887249:A>G,55887249,NM_033109.4,NM_033109.4:c.1284+43T>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.247,0.0000985999,EXAC_SAS_AF,PNPT1
436103,2:55887255:T>G,55887255,NM_033109.4,NM_033109.4:c.1284+37A>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.922,0.000336247,EXAC_AFR_AF,PNPT1
436104,2:55887256:T>G,55887256,NM_033109.4,NM_033109.4:c.1284+36A>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.684,0.0000502109,EXAC_NFE_AF,PNPT1
436105,2:55887264:A>C,55887264,NM_033109.4,NM_033109.4:c.1284+28T>G,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.336,\N,\N,PNPT1
436106,2:55887273:G>A,55887273,NM_033109.4,NM_033109.4:c.1284+19C>T,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.253,0.000140687,EXAC_AMR_AF,PNPT1
436107,2:55887274:G>GA,55887274,NM_033109.4,NM_033109.4:c.1284+17dup,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436108,2:55887274:GA>G,55887274,NM_033109.4,NM_033109.4:c.1284+17del,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.102,\N,\N,PNPT1
436109,2:55887282:T>G,55887282,NM_033109.4,NM_033109.4:c.1284+10A>C,\N,\N,\N,15/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.795,\N,\N,PNPT1
436110,2:55887288:T>G,55887288,NM_033109.4,NM_033109.4:c.1284+4A>C,\N,\N,\N,15/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.39,0.0000752559,EXAC_SAS_AF,PNPT1
436111,2:55887295:G>A,55887295,NM_033109.4,NM_033109.4:c.1281C>T,NP_149100.2:p.Tyr427=,427,15/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.289,0.000151653,EXAC_AFR_AF,PNPT1
436112,2:55887296:TA>T,55887296,NM_033109.4,NM_033109.4:c.1279del,NP_149100.2:p.Tyr427ThrfsTer17,427,15/28,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,35,\N,\N,PNPT1
436113,2:55887298:G>C,55887298,NM_033109.4,NM_033109.4:c.1278C>G,NP_149100.2:p.His426Gln,426,15/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,24.4,0.0000201532,EXAC_NFE_AF,PNPT1
436114,2:55887301:C>A,55887301,NM_033109.4,NM_033109.4:c.1275G>T,NP_149100.2:p.Leu425=,425,15/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,18.13,0.000136911,EXAC_SAS_AF,PNPT1
436115,2:55887304:C>A,55887304,NM_033109.4,NM_033109.4:c.1272G>T,NP_149100.2:p.Met424Ile,424,15/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.6,0.0000192086,EXAC_NFE_AF,PNPT1
436116,2:55887324:T>C,55887324,NM_033109.4,NM_033109.4:c.1252A>G,NP_149100.2:p.Ile418Val,418,15/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,0.003,0.0000178438,EXAC_NFE_AF,PNPT1
436117,2:55887325:C>T,55887325,NM_033109.4,NM_033109.4:c.1251G>A,NP_149100.2:p.Gly417=,417,15/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,12.71,0.0099,1KG_EUR_AF,PNPT1
436118,2:55887326:C>T,55887326,NM_033109.4,NM_033109.4:c.1250G>A,NP_149100.2:p.Gly417Glu,417,15/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,29.6,0.000194225,EXAC_SAS_AF,PNPT1
436119,2:55887330:TA>T,55887330,NM_033109.4,NM_033109.4:c.1248-3del,\N,\N,\N,14/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.7,0.001002,EXAC_EAS_AF,PNPT1
436120,2:55887341:G>C,55887341,NM_033109.4,NM_033109.4:c.1248-13C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.68,\N,\N,PNPT1
436121,2:55887344:A>G,55887344,NM_033109.4,NM_033109.4:c.1248-16T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.81,0.00102223,EXAC_AFR_AF,PNPT1
436122,2:55887347:A>G,55887347,NM_033109.4,NM_033109.4:c.1248-19T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.44,0.0000175359,EXAC_NFE_AF,PNPT1
436123,2:55887348:T>C,55887348,NM_033109.4,NM_033109.4:c.1248-20A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.62,\N,\N,PNPT1
436124,2:55887349:A>G,55887349,NM_033109.4,NM_033109.4:c.1248-21T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.77,0.000273573,EXAC_AMR_AF,PNPT1
436125,2:55887349:A>T,55887349,NM_033109.4,NM_033109.4:c.1248-21T>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.58,0.000980392,EXAC_FIN_AF,PNPT1
436126,2:55887352:A>G,55887352,NM_033109.4,NM_033109.4:c.1248-24T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.68,0.00120192,EXAC_OTH_AF,PNPT1
436127,2:55887356:ACAT>A,55887356,NM_033109.4,NM_033109.4:c.1248-31_1248-29del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.228,0.000125094,EXAC_EAS_AF,PNPT1
436128,2:55887359:T>C,55887359,NM_033109.4,NM_033109.4:c.1248-31A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.513,0.000105278,EXAC_NFE_AF,PNPT1
436129,2:55887362:T>C,55887362,NM_033109.4,NM_033109.4:c.1248-34A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.293,0.0000175611,EXAC_NFE_AF,PNPT1
436130,2:55887367:A>G,55887367,NM_033109.4,NM_033109.4:c.1248-39T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.472,0.0000914077,EXAC_AMR_AF,PNPT1
436131,2:55887373:CAT>C,55887373,NM_033109.4,NM_033109.4:c.1248-47_1248-46del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.423,0.003,1KG_EAS_AF,PNPT1
436132,2:55887374:ATATT>A,55887374,NM_033109.4,NM_033109.4:c.1248-50_1248-47del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.158,0.0000913576,EXAC_AMR_AF,PNPT1
436133,2:55887374:A>G,55887374,NM_033109.4,NM_033109.4:c.1248-46T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.693,0.0000528802,EXAC_NFE_AF,PNPT1
436134,2:55887377:T>C,55887377,NM_033109.4,NM_033109.4:c.1248-49A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.33,0.0000176891,EXAC_NFE_AF,PNPT1
436135,2:55887378:T>G,55887378,NM_033109.4,NM_033109.4:c.1248-50A>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.302,0.001,1KG_SAS_AF,PNPT1
436136,2:55887468:G>C,55887468,NM_033109.4,NM_033109.4:c.1248-140C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.376,\N,\N,PNPT1
436137,2:55887497:A>G,55887497,NM_033109.4,NM_033109.4:c.1248-169T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.129,0.0008,1KG_AFR_AF,PNPT1
436138,2:55887501:T>G,55887501,NM_033109.4,NM_033109.4:c.1248-173A>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.468,\N,\N,PNPT1
436139,2:55887510:G>T,55887510,NM_033109.4,NM_033109.4:c.1248-182C>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.67,0.0008,1KG_AFR_AF,PNPT1
436140,2:55887516:A>G,55887516,NM_033109.4,NM_033109.4:c.1248-188T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.644,\N,\N,PNPT1
436141,2:55887536:T>C,55887536,NM_033109.4,NM_033109.4:c.1248-208A>G,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.18,0.0129,1KG_EAS_AF,PNPT1
436142,2:55887539:G>T,55887539,NM_033109.4,NM_033109.4:c.1248-211C>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.468,0.001,1KG_EUR_AF,PNPT1
436143,2:55887555:T>G,55887555,NM_033109.4,NM_033109.4:c.1248-227A>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.483,\N,\N,PNPT1
436144,2:55887596:A>G,55887596,NM_033109.4,NM_033109.4:c.1248-268T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.093,0.001,1KG_EUR_AF,PNPT1
436145,2:55887628:G>A,55887628,NM_033109.4,NM_033109.4:c.1248-300C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.534,\N,\N,PNPT1
436146,2:55887644:C>T,55887644,NM_033109.4,NM_033109.4:c.1248-316G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.347,\N,\N,PNPT1
436147,2:55887650:C>T,55887650,NM_033109.4,NM_033109.4:c.1248-322G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.303,0.0008,1KG_AFR_AF,PNPT1
436148,2:55887653:C>G,55887653,NM_033109.4,NM_033109.4:c.1248-325G>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.194,0.0008,1KG_AFR_AF,PNPT1
436149,2:55887689:G>A,55887689,NM_033109.4,NM_033109.4:c.1248-361C>T,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.076,0.0112,1KG_SAS_AF,PNPT1
436150,2:55887694:T>C,55887694,NM_033109.4,NM_033109.4:c.1248-366A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.873,\N,\N,PNPT1
436151,2:55887703:C>T,55887703,NM_033109.4,NM_033109.4:c.1248-375G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.335,0.001,1KG_SAS_AF,PNPT1
436152,2:55887704:G>A,55887704,NM_033109.4,NM_033109.4:c.1248-376C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.084,0.0029,1KG_AMR_AF,PNPT1
436153,2:55887734:T>C,55887734,NM_033109.4,NM_033109.4:c.1248-406A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8,0.0008,1KG_AFR_AF,PNPT1
436154,2:55887749:T>G,55887749,NM_033109.4,NM_033109.4:c.1248-421A>C,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.23,0.4085,1KG_AFR_AF,PNPT1
436155,2:55887786:T>A,55887786,NM_033109.4,NM_033109.4:c.1248-458A>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.641,\N,\N,PNPT1
436156,2:55887789:A>G,55887789,NM_033109.4,NM_033109.4:c.1248-461T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.671,0.002,1KG_EUR_AF,PNPT1
436157,2:55887792:G>A,55887792,NM_033109.4,NM_033109.4:c.1248-464C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.477,\N,\N,PNPT1
436158,2:55887814:G>A,55887814,NM_033109.4,NM_033109.4:c.1248-486C>T,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.123,0.0144,1KG_AFR_AF,PNPT1
436159,2:55887853:T>A,55887853,NM_033109.4,NM_033109.4:c.1248-525A>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.588,\N,\N,PNPT1
436160,2:55887868:T>C,55887868,NM_033109.4,NM_033109.4:c.1248-540A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.665,\N,\N,PNPT1
436161,2:55887909:C>T,55887909,NM_033109.4,NM_033109.4:c.1248-581G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.718,\N,\N,PNPT1
436162,2:55887911:T>G,55887911,NM_033109.4,NM_033109.4:c.1248-583A>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.915,\N,\N,PNPT1
436163,2:55887915:T>A,55887915,NM_033109.4,NM_033109.4:c.1248-587A>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.854,0.002,1KG_EUR_AF,PNPT1
436164,2:55887930:G>C,55887930,NM_033109.4,NM_033109.4:c.1248-602C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.84,0.0014,1KG_AMR_AF,PNPT1
436165,2:55887949:T>C,55887949,NM_033109.4,NM_033109.4:c.1248-621A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.01,\N,\N,PNPT1
436166,2:55887950:G>C,55887950,NM_033109.4,NM_033109.4:c.1248-622C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.95,0.0023,1KG_AFR_AF,PNPT1
436167,2:55887960:T>C,55887960,NM_033109.4,NM_033109.4:c.1248-632A>G,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.65,0.0099,1KG_EUR_AF,PNPT1
436168,2:55887963:C>T,55887963,NM_033109.4,NM_033109.4:c.1248-635G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.36,0.0008,1KG_AFR_AF,PNPT1
436169,2:55887969:C>A,55887969,NM_033109.4,NM_033109.4:c.1248-641G>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.15,0.0008,1KG_AFR_AF,PNPT1
436170,2:55887971:A>G,55887971,NM_033109.4,NM_033109.4:c.1248-643T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.96,0.0008,1KG_AFR_AF,PNPT1
436171,2:55887997:C>A,55887997,NM_033109.4,NM_033109.4:c.1248-669G>T,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.39,0.0121,1KG_AFR_AF,PNPT1
436172,2:55888011:C>T,55888011,NM_033109.4,NM_033109.4:c.1248-683G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.34,\N,\N,PNPT1
436173,2:55888057:T>C,55888057,NM_033109.4,NM_033109.4:c.1248-729A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.31,\N,\N,PNPT1
436174,2:55888070:T>C,55888070,NM_033109.4,NM_033109.4:c.1248-742A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.435,0.001,1KG_SAS_AF,PNPT1
436175,2:55888144:C>G,55888144,NM_033109.4,NM_033109.4:c.1248-816G>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.524,0.001,1KG_EUR_AF,PNPT1
436176,2:55888153:G>A,55888153,NM_033109.4,NM_033109.4:c.1248-825C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.117,0.0014,1KG_AMR_AF,PNPT1
436177,2:55888198:A>C,55888198,NM_033109.4,NM_033109.4:c.1248-870T>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.095,0.001,1KG_EUR_AF,PNPT1
436178,2:55888216:AAT>A,55888216,NM_033109.4,NM_033109.4:c.1247+873_1247+874del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.198,0.0031,1KG_SAS_AF,PNPT1
436179,2:55888225:TC>T,55888225,NM_033109.4,NM_033109.4:c.1247+865del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436180,2:55888228:T>C,55888228,NM_033109.4,NM_033109.4:c.1247+863A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.55,\N,\N,PNPT1
436181,2:55888247:TTTTGA>T,55888247,NM_033109.4,NM_033109.4:c.1247+839_1247+843del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436182,2:55888263:C>T,55888263,NM_033109.4,NM_033109.4:c.1247+828G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.139,0.001,1KG_SAS_AF,PNPT1
436183,2:55888264:G>A,55888264,NM_033109.4,NM_033109.4:c.1247+827C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.465,\N,\N,PNPT1
436184,2:55888271:C>T,55888271,NM_033109.4,NM_033109.4:c.1247+820G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.801,0.0014,1KG_AMR_AF,PNPT1
436185,2:55888306:C>T,55888306,NM_033109.4,NM_033109.4:c.1247+785G>A,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.328,0.0068,1KG_AFR_AF,PNPT1
436186,2:55888312:C>G,55888312,NM_033109.4,NM_033109.4:c.1247+779G>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.618,\N,\N,PNPT1
436187,2:55888328:C>T,55888328,NM_033109.4,NM_033109.4:c.1247+763G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.097,0.0014,1KG_AMR_AF,PNPT1
436188,2:55888329:G>A,55888329,NM_033109.4,NM_033109.4:c.1247+762C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.435,\N,\N,PNPT1
436189,2:55888335:C>T,55888335,NM_033109.4,NM_033109.4:c.1247+756G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.393,0.002,1KG_EAS_AF,PNPT1
436190,2:55888352:C>T,55888352,NM_033109.4,NM_033109.4:c.1247+739G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.226,\N,\N,PNPT1
436191,2:55888356:T>G,55888356,NM_033109.4,NM_033109.4:c.1247+735A>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.968,0.0008,1KG_AFR_AF,PNPT1
436192,2:55888375:C>T,55888375,NM_033109.4,NM_033109.4:c.1247+716G>A,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.191,0.4085,1KG_AFR_AF,PNPT1
436193,2:55888395:T>C,55888395,NM_033109.4,NM_033109.4:c.1247+696A>G,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.238,0.0318,1KG_AFR_AF,PNPT1
436194,2:55888413:G>A,55888413,NM_033109.4,NM_033109.4:c.1247+678C>T,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.192,0.9977,1KG_AFR_AF,PNPT1
436195,2:55888415:A>G,55888415,NM_033109.4,NM_033109.4:c.1247+676T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.329,0.0008,1KG_AFR_AF,PNPT1
436196,2:55888417:G>A,55888417,NM_033109.4,NM_033109.4:c.1247+674C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.785,\N,\N,PNPT1
436197,2:55888423:T>A,55888423,NM_033109.4,NM_033109.4:c.1247+668A>T,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.724,0.0961,1KG_AFR_AF,PNPT1
436198,2:55888427:C>T,55888427,NM_033109.4,NM_033109.4:c.1247+664G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.993,\N,\N,PNPT1
436199,2:55888439:G>C,55888439,NM_033109.4,NM_033109.4:c.1247+652C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.432,\N,\N,PNPT1
436200,2:55888470:C>A,55888470,NM_033109.4,NM_033109.4:c.1247+621G>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.278,0.0023,1KG_AFR_AF,PNPT1
436201,2:55888488:G>A,55888488,NM_033109.4,NM_033109.4:c.1247+603C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.685,\N,\N,PNPT1
436202,2:55888494:GGATTACAGGCCAGGCGTGA>G,55888494,NM_033109.4,NM_033109.4:c.1247+578_1247+596del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436203,2:55888505:C>T,55888505,NM_033109.4,NM_033109.4:c.1247+586G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.468,\N,\N,PNPT1
436204,2:55888509:C>T,55888509,NM_033109.4,NM_033109.4:c.1247+582G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.001,0.001,1KG_EAS_AF,PNPT1
436205,2:55888510:G>A,55888510,NM_033109.4,NM_033109.4:c.1247+581C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.451,\N,\N,PNPT1
436206,2:55888512:G>A,55888512,NM_033109.4,NM_033109.4:c.1247+579C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.704,\N,\N,PNPT1
436207,2:55888512:G>C,55888512,NM_033109.4,NM_033109.4:c.1247+579C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.371,\N,\N,PNPT1
436208,2:55888521:C>T,55888521,NM_033109.4,NM_033109.4:c.1247+570G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.053,0.001,1KG_SAS_AF,PNPT1
436209,2:55888525:C>T,55888525,NM_033109.4,NM_033109.4:c.1247+566G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.344,0.002,1KG_EAS_AF,PNPT1
436210,2:55888533:A>G,55888533,NM_033109.4,NM_033109.4:c.1247+558T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.594,\N,\N,PNPT1
436211,2:55888535:T>C,55888535,NM_033109.4,NM_033109.4:c.1247+556A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.801,0.0023,1KG_AFR_AF,PNPT1
436212,2:55888564:G>C,55888564,NM_033109.4,NM_033109.4:c.1247+527C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.877,\N,\N,PNPT1
436213,2:55888568:G>C,55888568,NM_033109.4,NM_033109.4:c.1247+523C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.528,\N,\N,PNPT1
436214,2:55888569:C>A,55888569,NM_033109.4,NM_033109.4:c.1247+522G>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.064,\N,\N,PNPT1
436215,2:55888577:ATTC>A,55888577,NM_033109.4,NM_033109.4:c.1247+511_1247+513del,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.903,\N,\N,PNPT1
436216,2:55888589:G>A,55888589,NM_033109.4,NM_033109.4:c.1247+502C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.633,0.001,1KG_SAS_AF,PNPT1
436217,2:55888612:T>A,55888612,NM_033109.4,NM_033109.4:c.1247+479A>T,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.963,0.6566,1KG_AFR_AF,PNPT1
436218,2:55888629:C>T,55888629,NM_033109.4,NM_033109.4:c.1247+462G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.1,0.0041,1KG_SAS_AF,PNPT1
436219,2:55888660:A>G,55888660,NM_033109.4,NM_033109.4:c.1247+431T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.73,\N,\N,PNPT1
436220,2:55888671:G>T,55888671,NM_033109.4,NM_033109.4:c.1247+420C>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.296,0.001,1KG_SAS_AF,PNPT1
436221,2:55888680:G>A,55888680,NM_033109.4,NM_033109.4:c.1247+411C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.053,\N,\N,PNPT1
436222,2:55888684:C>T,55888684,NM_033109.4,NM_033109.4:c.1247+407G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.81,0.001,1KG_SAS_AF,PNPT1
436223,2:55888694:T>A,55888694,NM_033109.4,NM_033109.4:c.1247+397A>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.508,\N,\N,PNPT1
436224,2:55888743:T>C,55888743,NM_033109.4,NM_033109.4:c.1247+348A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.291,0.0014,1KG_AMR_AF,PNPT1
436225,2:55888753:C>T,55888753,NM_033109.4,NM_033109.4:c.1247+338G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.026,0.001,1KG_EUR_AF,PNPT1
436226,2:55888754:G>A,55888754,NM_033109.4,NM_033109.4:c.1247+337C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.165,\N,\N,PNPT1
436227,2:55888782:G>A,55888782,NM_033109.4,NM_033109.4:c.1247+309C>T,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.999,\N,\N,PNPT1
436228,2:55888789:C>G,55888789,NM_033109.4,NM_033109.4:c.1247+302G>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.996,\N,\N,PNPT1
436229,2:55888792:T>C,55888792,NM_033109.4,NM_033109.4:c.1247+299A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.348,0.0029,1KG_AMR_AF,PNPT1
436230,2:55888815:C>T,55888815,NM_033109.4,NM_033109.4:c.1247+276G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.72,\N,\N,PNPT1
436231,2:55888817:T>C,55888817,NM_033109.4,NM_033109.4:c.1247+274A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.26,0.0008,1KG_AFR_AF,PNPT1
436232,2:55888841:C>G,55888841,NM_033109.4,NM_033109.4:c.1247+250G>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.21,0.001,1KG_EAS_AF,PNPT1
436233,2:55888857:T>C,55888857,NM_033109.4,NM_033109.4:c.1247+234A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.814,0.001,1KG_SAS_AF,PNPT1
436234,2:55888921:A>AATCT,55888921,NM_033109.4,NM_033109.4:c.1247+166_1247+169dup,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436235,2:55888930:C>G,55888930,NM_033109.4,NM_033109.4:c.1247+161G>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.015,0.001,1KG_EAS_AF,PNPT1
436236,2:55888959:A>G,55888959,NM_033109.4,NM_033109.4:c.1247+132T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.514,0.0038,1KG_AFR_AF,PNPT1
436237,2:55888976:A>C,55888976,NM_033109.4,NM_033109.4:c.1247+115T>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.848,\N,\N,PNPT1
436238,2:55888976:A>T,55888976,NM_033109.4,NM_033109.4:c.1247+115T>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.361,\N,\N,PNPT1
436239,2:55889006:CAAT>C,55889006,NM_033109.4,NM_033109.4:c.1247+82_1247+84del,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.415,0.0184,1KG_SAS_AF,PNPT1
436240,2:55889035:T>C,55889035,NM_033109.4,NM_033109.4:c.1247+56A>G,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.809,0.0089,1KG_EUR_AF,PNPT1
436241,2:55889042:A>G,55889042,NM_033109.4,NM_033109.4:c.1247+49T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.197,0.000202922,EXAC_EAS_AF,PNPT1
436242,2:55889046:T>C,55889046,NM_033109.4,NM_033109.4:c.1247+45A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.478,0.000082672,EXAC_SAS_AF,PNPT1
436243,2:55889048:G>C,55889048,NM_033109.4,NM_033109.4:c.1247+43C>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.507,\N,\N,PNPT1
436244,2:55889049:A>G,55889049,NM_033109.4,NM_033109.4:c.1247+42T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.667,0.00228964,EXAC_FIN_AF,PNPT1
436245,2:55889050:A>G,55889050,NM_033109.4,NM_033109.4:c.1247+41T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.764,0.00002925,EXAC_NFE_AF,PNPT1
436246,2:55889054:C>T,55889054,NM_033109.4,NM_033109.4:c.1247+37G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.936,\N,\N,PNPT1
436247,2:55889055:A>C,55889055,NM_033109.4,NM_033109.4:c.1247+36T>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.413,0.001,1KG_SAS_AF,PNPT1
436248,2:55889055:A>T,55889055,NM_033109.4,NM_033109.4:c.1247+36T>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.878,0.000162681,EXAC_SAS_AF,PNPT1
436249,2:55889056:T>C,55889056,NM_033109.4,NM_033109.4:c.1247+35A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.133,0.00013344,EXAC_AMR_AF,PNPT1
436250,2:55889057:A>C,55889057,NM_033109.4,NM_033109.4:c.1247+34T>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.687,0.0000283978,EXAC_NFE_AF,PNPT1
436251,2:55889061:C>T,55889061,NM_033109.4,NM_033109.4:c.1247+30G>A,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.824,0.001,1KG_SAS_AF,PNPT1
436252,2:55889062:G>A,55889062,NM_033109.4,NM_033109.4:c.1247+29C>T,\N,\N,\N,14/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.014,0.972,1KG_AFR_AF,PNPT1
436253,2:55889063:T>C,55889063,NM_033109.4,NM_033109.4:c.1247+28A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.57,0.0000184822,EXAC_NFE_AF,PNPT1
436254,2:55889064:A>G,55889064,NM_033109.4,NM_033109.4:c.1247+27T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.465,0.000120627,EXAC_AFR_AF,PNPT1
436255,2:55889071:A>G,55889071,NM_033109.4,NM_033109.4:c.1247+20T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.311,0.0000736838,EXAC_NFE_AF,PNPT1
436256,2:55889072:T>C,55889072,NM_033109.4,NM_033109.4:c.1247+19A>G,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.044,0.000055271,EXAC_NFE_AF,PNPT1
436257,2:55889072:T>G,55889072,NM_033109.4,NM_033109.4:c.1247+19A>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.198,0.0000673945,EXAC_SAS_AF,PNPT1
436258,2:55889081:CAT>C,55889081,NM_033109.4,NM_033109.4:c.1247+8_1247+9del,\N,\N,\N,14/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,12.86,0.000119732,EXAC_AFR_AF,PNPT1
436259,2:55889082:A>G,55889082,NM_033109.4,NM_033109.4:c.1247+9T>C,\N,\N,\N,14/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.706,0.00045977,EVS_AA_AF,PNPT1
436260,2:55889091:T>C,55889091,NM_033109.4,NM_033109.4:c.1247A>G,NP_149100.2:p.Asn416Ser,416,14/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,8.637,\N,\N,PNPT1
436261,2:55889107:C>T,55889107,NM_033109.4,NM_033109.4:c.1231G>A,NP_149100.2:p.Val411Ile,411,14/28,\N,Benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,12.98,0.0082,1KG_SAS_AF,PNPT1
436262,2:55889130:T>A,55889130,NM_033109.4,NM_033109.4:c.1208A>T,NP_149100.2:p.Glu403Val,403,14/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,0.0000175046,EXAC_NFE_AF,PNPT1
436263,2:55889130:T>C,55889130,NM_033109.4,NM_033109.4:c.1208A>G,NP_149100.2:p.Glu403Gly,403,14/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,22.5,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,PNPT1
436264,2:55889142:A>C,55889142,NM_033109.4,NM_033109.4:c.1196T>G,NP_149100.2:p.Phe399Cys,399,14/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.8,0.001,1KG_SAS_AF,PNPT1
436265,2:55889149:C>T,55889149,NM_033109.4,NM_033109.4:c.1189G>A,NP_149100.2:p.Val397Ile,397,14/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.00083254,EXAC_AFR_AF,PNPT1
436266,2:55889191:T>TA,55889191,NM_033109.4,NM_033109.4:c.1177-31dup,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.55,\N,\N,PNPT1
436267,2:55889198:C>T,55889198,NM_033109.4,NM_033109.4:c.1177-37G>A,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,18.09,0.005,1KG_EAS_AF,PNPT1
436268,2:55889201:A>C,55889201,NM_033109.4,NM_033109.4:c.1177-40T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.29,0.001,1KG_EAS_AF,PNPT1
436269,2:55889202:C>T,55889202,NM_033109.4,NM_033109.4:c.1177-41G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.57,0.0000225622,EXAC_NFE_AF,PNPT1
436270,2:55889240:C>T,55889240,NM_033109.4,NM_033109.4:c.1177-79G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.969,\N,\N,PNPT1
436271,2:55889293:C>T,55889293,NM_033109.4,NM_033109.4:c.1177-132G>A,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.158,0.0129,1KG_AFR_AF,PNPT1
436272,2:55889336:A>G,55889336,NM_033109.4,NM_033109.4:c.1177-175T>C,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.461,0.0318,1KG_AFR_AF,PNPT1
436273,2:55889343:A>C,55889343,NM_033109.4,NM_033109.4:c.1177-182T>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.78,0.006,1KG_EAS_AF,PNPT1
436274,2:55889354:T>C,55889354,NM_033109.4,NM_033109.4:c.1177-193A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.56,0.001,1KG_EAS_AF,PNPT1
436275,2:55889361:T>C,55889361,NM_033109.4,NM_033109.4:c.1177-200A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.158,0.0082,1KG_SAS_AF,PNPT1
436276,2:55889372:C>T,55889372,NM_033109.4,NM_033109.4:c.1177-211G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.468,0.001,1KG_EUR_AF,PNPT1
436277,2:55889399:C>T,55889399,NM_033109.4,NM_033109.4:c.1177-238G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.652,\N,\N,PNPT1
436278,2:55889430:G>C,55889430,NM_033109.4,NM_033109.4:c.1177-269C>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.276,0.0218,1KG_EAS_AF,PNPT1
436279,2:55889440:T>C,55889440,NM_033109.4,NM_033109.4:c.1177-279A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.135,\N,\N,PNPT1
436280,2:55889454:G>A,55889454,NM_033109.4,NM_033109.4:c.1177-293C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.824,0.1431,1KG_SAS_AF,PNPT1
436281,2:55889466:G>A,55889466,NM_033109.4,NM_033109.4:c.1177-305C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.474,0.4049,1KG_SAS_AF,PNPT1
436282,2:55889467:C>T,55889467,NM_033109.4,NM_033109.4:c.1177-306G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.338,\N,\N,PNPT1
436283,2:55889486:G>A,55889486,NM_033109.4,NM_033109.4:c.1177-325C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.313,0.002,1KG_SAS_AF,PNPT1
436284,2:55889492:G>A,55889492,NM_033109.4,NM_033109.4:c.1177-331C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.367,0.0008,1KG_AFR_AF,PNPT1
436285,2:55889518:A>T,55889518,NM_033109.4,NM_033109.4:c.1177-357T>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.322,\N,\N,PNPT1
436286,2:55889538:G>A,55889538,NM_033109.4,NM_033109.4:c.1177-377C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.296,0.001,1KG_SAS_AF,PNPT1
436287,2:55889538:G>T,55889538,NM_033109.4,NM_033109.4:c.1177-377C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.082,\N,\N,PNPT1
436288,2:55889560:C>T,55889560,NM_033109.4,NM_033109.4:c.1177-399G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.744,\N,\N,PNPT1
436289,2:55889599:C>T,55889599,NM_033109.4,NM_033109.4:c.1177-438G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.429,\N,\N,PNPT1
436290,2:55889607:C>T,55889607,NM_033109.4,NM_033109.4:c.1177-446G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.253,0.0014,1KG_AMR_AF,PNPT1
436291,2:55889608:G>A,55889608,NM_033109.4,NM_033109.4:c.1177-447C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.219,0.002,1KG_SAS_AF,PNPT1
436292,2:55889609:A>T,55889609,NM_033109.4,NM_033109.4:c.1177-448T>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.205,\N,\N,PNPT1
436293,2:55889615:G>T,55889615,NM_033109.4,NM_033109.4:c.1177-454C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.668,\N,\N,PNPT1
436294,2:55889628:G>A,55889628,NM_033109.4,NM_033109.4:c.1177-467C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.498,\N,\N,PNPT1
436295,2:55889650:A>G,55889650,NM_033109.4,NM_033109.4:c.1177-489T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.171,0.0014,1KG_AMR_AF,PNPT1
436296,2:55889658:A>G,55889658,NM_033109.4,NM_033109.4:c.1177-497T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.878,0.001,1KG_SAS_AF,PNPT1
436297,2:55889668:G>A,55889668,NM_033109.4,NM_033109.4:c.1177-507C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.013,0.4049,1KG_SAS_AF,PNPT1
436298,2:55889699:G>T,55889699,NM_033109.4,NM_033109.4:c.1177-538C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.191,\N,\N,PNPT1
436299,2:55889701:T>C,55889701,NM_033109.4,NM_033109.4:c.1177-540A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.861,0.001,1KG_EUR_AF,PNPT1
436300,2:55889702:T>C,55889702,NM_033109.4,NM_033109.4:c.1177-541A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.4,0.0113,1KG_AFR_AF,PNPT1
436301,2:55889723:T>C,55889723,NM_033109.4,NM_033109.4:c.1177-562A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.543,0.0014,1KG_AMR_AF,PNPT1
436302,2:55889741:C>T,55889741,NM_033109.4,NM_033109.4:c.1177-580G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.236,0.003,1KG_AFR_AF,PNPT1
436303,2:55889822:A>T,55889822,NM_033109.4,NM_033109.4:c.1177-661T>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.614,0.002,1KG_EAS_AF,PNPT1
436304,2:55889876:G>A,55889876,NM_033109.4,NM_033109.4:c.1177-715C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,13.56,0.2758,1KG_EAS_AF,PNPT1
436305,2:55889909:A>G,55889909,NM_033109.4,NM_033109.4:c.1177-748T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.264,\N,\N,PNPT1
436306,2:55889922:A>G,55889922,NM_033109.4,NM_033109.4:c.1177-761T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.745,0.001,1KG_SAS_AF,PNPT1
436307,2:55889929:A>G,55889929,NM_033109.4,NM_033109.4:c.1177-768T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.685,\N,\N,PNPT1
436308,2:55889945:T>G,55889945,NM_033109.4,NM_033109.4:c.1177-784A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.343,0.001,1KG_EUR_AF,PNPT1
436309,2:55890015:ATT>A,55890015,NM_033109.4,NM_033109.4:c.1177-856_1177-855del,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.928,0.7312,1KG_EAS_AF,PNPT1
436310,2:55890031:TTG>T,55890031,NM_033109.4,NM_033109.4:c.1177-872_1177-871del,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.545,\N,\N,PNPT1
436311,2:55890032:T>G,55890032,NM_033109.4,NM_033109.4:c.1177-871A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.189,\N,\N,PNPT1
436312,2:55890032:TG>T,55890032,NM_033109.4,NM_033109.4:c.1177-872del,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.493,\N,\N,PNPT1
436313,2:55890034:G>T,55890034,NM_033109.4,NM_033109.4:c.1177-873C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.526,\N,\N,PNPT1
436314,2:55890042:A>C,55890042,NM_033109.4,NM_033109.4:c.1177-881T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.052,0.0014,1KG_AMR_AF,PNPT1
436315,2:55890057:C>T,55890057,NM_033109.4,NM_033109.4:c.1177-896G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.287,0.0008,1KG_AFR_AF,PNPT1
436316,2:55890069:A>G,55890069,NM_033109.4,NM_033109.4:c.1177-908T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.141,\N,\N,PNPT1
436317,2:55890084:C>T,55890084,NM_033109.4,NM_033109.4:c.1177-923G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.072,\N,\N,PNPT1
436318,2:55890119:G>A,55890119,NM_033109.4,NM_033109.4:c.1177-958C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.781,0.0015,1KG_AFR_AF,PNPT1
436319,2:55890125:C>T,55890125,NM_033109.4,NM_033109.4:c.1177-964G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.907,\N,\N,PNPT1
436320,2:55890128:A>G,55890128,NM_033109.4,NM_033109.4:c.1177-967T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.768,\N,\N,PNPT1
436321,2:55890144:T>C,55890144,NM_033109.4,NM_033109.4:c.1177-983A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.393,\N,\N,PNPT1
436322,2:55890148:T>C,55890148,NM_033109.4,NM_033109.4:c.1177-987A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.383,\N,\N,PNPT1
436323,2:55890156:A>G,55890156,NM_033109.4,NM_033109.4:c.1177-995T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.586,0.0015,1KG_AFR_AF,PNPT1
436324,2:55890176:C>T,55890176,NM_033109.4,NM_033109.4:c.1177-1015G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.529,0.001,1KG_SAS_AF,PNPT1
436325,2:55890177:G>A,55890177,NM_033109.4,NM_033109.4:c.1177-1016C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.323,\N,\N,PNPT1
436326,2:55890183:C>G,55890183,NM_033109.4,NM_033109.4:c.1177-1022G>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.923,\N,\N,PNPT1
436327,2:55890202:G>A,55890202,NM_033109.4,NM_033109.4:c.1177-1041C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.699,\N,\N,PNPT1
436328,2:55890209:T>C,55890209,NM_033109.4,NM_033109.4:c.1177-1048A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.905,\N,\N,PNPT1
436329,2:55890210:G>A,55890210,NM_033109.4,NM_033109.4:c.1177-1049C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.37,\N,\N,PNPT1
436330,2:55890211:G>C,55890211,NM_033109.4,NM_033109.4:c.1177-1050C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.191,\N,\N,PNPT1
436331,2:55890240:C>T,55890240,NM_033109.4,NM_033109.4:c.1177-1079G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.182,0.001,1KG_SAS_AF,PNPT1
436332,2:55890241:G>A,55890241,NM_033109.4,NM_033109.4:c.1177-1080C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.934,0.001,1KG_EAS_AF,PNPT1
436333,2:55890255:G>A,55890255,NM_033109.4,NM_033109.4:c.1177-1094C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.935,0.001,1KG_EUR_AF,PNPT1
436334,2:55890289:G>T,55890289,NM_033109.4,NM_033109.4:c.1177-1128C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.603,0.0008,1KG_AFR_AF,PNPT1
436335,2:55890298:C>T,55890298,NM_033109.4,NM_033109.4:c.1177-1137G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.294,\N,\N,PNPT1
436336,2:55890310:C>T,55890310,NM_033109.4,NM_033109.4:c.1177-1149G>A,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.464,0.005,1KG_EUR_AF,PNPT1
436337,2:55890315:G>A,55890315,NM_033109.4,NM_033109.4:c.1177-1154C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.682,0.001,1KG_SAS_AF,PNPT1
436338,2:55890317:C>T,55890317,NM_033109.4,NM_033109.4:c.1177-1156G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.444,0.001,1KG_SAS_AF,PNPT1
436339,2:55890360:C>G,55890360,NM_033109.4,NM_033109.4:c.1177-1199G>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.007,0.0008,1KG_AFR_AF,PNPT1
436340,2:55890374:A>G,55890374,NM_033109.4,NM_033109.4:c.1177-1213T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.603,\N,\N,PNPT1
436341,2:55890381:A>C,55890381,NM_033109.4,NM_033109.4:c.1177-1220T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.339,\N,\N,PNPT1
436342,2:55890402:A>AATT,55890402,NM_033109.4,NM_033109.4:c.1177-1242_1177-1241insAAT,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436343,2:55890411:A>T,55890411,NM_033109.4,NM_033109.4:c.1177-1250T>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.283,0.001,1KG_EAS_AF,PNPT1
436344,2:55890464:T>G,55890464,NM_033109.4,NM_033109.4:c.1177-1303A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.621,\N,\N,PNPT1
436345,2:55890466:C>T,55890466,NM_033109.4,NM_033109.4:c.1177-1305G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.994,\N,\N,PNPT1
436346,2:55890538:T>C,55890538,NM_033109.4,NM_033109.4:c.1177-1377A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.879,\N,\N,PNPT1
436347,2:55890545:T>C,55890545,NM_033109.4,NM_033109.4:c.1177-1384A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.826,0.0008,1KG_AFR_AF,PNPT1
436348,2:55890551:T>C,55890551,NM_033109.4,NM_033109.4:c.1177-1390A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.966,0.001,1KG_EUR_AF,PNPT1
436349,2:55890554:T>C,55890554,NM_033109.4,NM_033109.4:c.1177-1393A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.036,\N,\N,PNPT1
436350,2:55890578:T>C,55890578,NM_033109.4,NM_033109.4:c.1177-1417A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.767,\N,\N,PNPT1
436351,2:55890603:G>A,55890603,NM_033109.4,NM_033109.4:c.1177-1442C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.346,0.0144,1KG_AFR_AF,PNPT1
436352,2:55890603:G>T,55890603,NM_033109.4,NM_033109.4:c.1177-1442C>A,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.122,0.407,1KG_AFR_AF,PNPT1
436353,2:55890634:C>A,55890634,NM_033109.4,NM_033109.4:c.1177-1473G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.845,0.001,1KG_EAS_AF,PNPT1
436354,2:55890636:A>G,55890636,NM_033109.4,NM_033109.4:c.1177-1475T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.053,\N,\N,PNPT1
436355,2:55890670:G>A,55890670,NM_033109.4,NM_033109.4:c.1177-1509C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.739,0.0014,1KG_AMR_AF,PNPT1
436356,2:55890687:C>A,55890687,NM_033109.4,NM_033109.4:c.1177-1526G>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.31,0.0061,1KG_AFR_AF,PNPT1
436357,2:55890690:C>T,55890690,NM_033109.4,NM_033109.4:c.1177-1529G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.851,\N,\N,PNPT1
436358,2:55890701:C>G,55890701,NM_033109.4,NM_033109.4:c.1177-1540G>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.123,\N,\N,PNPT1
436359,2:55890729:C>A,55890729,NM_033109.4,NM_033109.4:c.1177-1568G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.301,0.001,1KG_SAS_AF,PNPT1
436360,2:55890733:T>A,55890733,NM_033109.4,NM_033109.4:c.1177-1572A>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.287,0.0008,1KG_AFR_AF,PNPT1
436361,2:55890745:C>T,55890745,NM_033109.4,NM_033109.4:c.1177-1584G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.558,0.001,1KG_SAS_AF,PNPT1
436362,2:55890792:T>C,55890792,NM_033109.4,NM_033109.4:c.1177-1631A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.88,\N,\N,PNPT1
436363,2:55890813:G>A,55890813,NM_033109.4,NM_033109.4:c.1177-1652C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.085,0.0079,1KG_EAS_AF,PNPT1
436364,2:55890815:A>G,55890815,NM_033109.4,NM_033109.4:c.1177-1654T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.943,0.0014,1KG_AMR_AF,PNPT1
436365,2:55890831:C>T,55890831,NM_033109.4,NM_033109.4:c.1177-1670G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.161,\N,\N,PNPT1
436366,2:55890833:G>T,55890833,NM_033109.4,NM_033109.4:c.1177-1672C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.638,0.0014,1KG_AMR_AF,PNPT1
436367,2:55890834:C>G,55890834,NM_033109.4,NM_033109.4:c.1177-1673G>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.273,0.0008,1KG_AFR_AF,PNPT1
436368,2:55890842:G>A,55890842,NM_033109.4,NM_033109.4:c.1177-1681C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.229,0.0014,1KG_AMR_AF,PNPT1
436369,2:55890857:T>C,55890857,NM_033109.4,NM_033109.4:c.1177-1696A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.374,\N,\N,PNPT1
436370,2:55890931:G>A,55890931,NM_033109.4,NM_033109.4:c.1177-1770C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.108,0.001,1KG_EAS_AF,PNPT1
436371,2:55891016:G>A,55891016,NM_033109.4,NM_033109.4:c.1177-1855C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.307,0.0031,1KG_SAS_AF,PNPT1
436372,2:55891028:G>C,55891028,NM_033109.4,NM_033109.4:c.1177-1867C>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.239,0.0099,1KG_EUR_AF,PNPT1
436373,2:55891043:G>A,55891043,NM_033109.4,NM_033109.4:c.1177-1882C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.324,\N,\N,PNPT1
436374,2:55891072:C>T,55891072,NM_033109.4,NM_033109.4:c.1177-1911G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.777,0.0038,1KG_AFR_AF,PNPT1
436375,2:55891073:G>A,55891073,NM_033109.4,NM_033109.4:c.1177-1912C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.156,0.001,1KG_SAS_AF,PNPT1
436376,2:55891074:A>G,55891074,NM_033109.4,NM_033109.4:c.1177-1913T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.742,\N,\N,PNPT1
436377,2:55891105:CAGA>C,55891105,NM_033109.4,NM_033109.4:c.1177-1947_1177-1945del,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.486,0.0144,1KG_AFR_AF,PNPT1
436378,2:55891140:T>C,55891140,NM_033109.4,NM_033109.4:c.1177-1979A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.368,0.4077,1KG_AFR_AF,PNPT1
436379,2:55891143:G>T,55891143,NM_033109.4,NM_033109.4:c.1177-1982C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.66,0.002,1KG_SAS_AF,PNPT1
436380,2:55891147:A>G,55891147,NM_033109.4,NM_033109.4:c.1177-1986T>C,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.334,0.0051,1KG_SAS_AF,PNPT1
436381,2:55891159:G>A,55891159,NM_033109.4,NM_033109.4:c.1177-1998C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.79,0.0082,1KG_SAS_AF,PNPT1
436382,2:55891164:G>A,55891164,NM_033109.4,NM_033109.4:c.1177-2003C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.06,0.0015,1KG_AFR_AF,PNPT1
436383,2:55891195:T>C,55891195,NM_033109.4,NM_033109.4:c.1177-2034A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.909,\N,\N,PNPT1
436384,2:55891242:T>C,55891242,NM_033109.4,NM_033109.4:c.1177-2081A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.96,\N,\N,PNPT1
436385,2:55891301:T>C,55891301,NM_033109.4,NM_033109.4:c.1177-2140A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.356,0.0014,1KG_AMR_AF,PNPT1
436386,2:55891320:T>C,55891320,NM_033109.4,NM_033109.4:c.1177-2159A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.782,0.41,1KG_SAS_AF,PNPT1
436387,2:55891334:G>A,55891334,NM_033109.4,NM_033109.4:c.1177-2173C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.266,\N,\N,PNPT1
436388,2:55891369:T>A,55891369,NM_033109.4,NM_033109.4:c.1177-2208A>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.789,0.0079,1KG_EAS_AF,PNPT1
436389,2:55891396:C>T,55891396,NM_033109.4,NM_033109.4:c.1177-2235G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.204,\N,\N,PNPT1
436390,2:55891411:G>A,55891411,NM_033109.4,NM_033109.4:c.1177-2250C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.915,\N,\N,PNPT1
436391,2:55891414:G>C,55891414,NM_033109.4,NM_033109.4:c.1177-2253C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.858,\N,\N,PNPT1
436392,2:55891451:C>T,55891451,NM_033109.4,NM_033109.4:c.1177-2290G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.83,0.0008,1KG_AFR_AF,PNPT1
436393,2:55891459:A>G,55891459,NM_033109.4,NM_033109.4:c.1177-2298T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.896,\N,\N,PNPT1
436394,2:55891478:T>C,55891478,NM_033109.4,NM_033109.4:c.1177-2317A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.281,0.0072,1KG_SAS_AF,PNPT1
436395,2:55891513:G>A,55891513,NM_033109.4,NM_033109.4:c.1177-2352C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.689,\N,\N,PNPT1
436396,2:55891540:T>G,55891540,NM_033109.4,NM_033109.4:c.1177-2379A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.237,0.002,1KG_EAS_AF,PNPT1
436397,2:55891557:C>T,55891557,NM_033109.4,NM_033109.4:c.1177-2396G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.612,\N,\N,PNPT1
436398,2:55891558:G>A,55891558,NM_033109.4,NM_033109.4:c.1177-2397C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.357,0.0091,1KG_AFR_AF,PNPT1
436399,2:55891563:C>A,55891563,NM_033109.4,NM_033109.4:c.1177-2402G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.252,0.002,1KG_EAS_AF,PNPT1
436400,2:55891578:AT>A,55891578,NM_033109.4,NM_033109.4:c.1177-2418del,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436401,2:55891591:T>C,55891591,NM_033109.4,NM_033109.4:c.1177-2430A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.189,0.0051,1KG_SAS_AF,PNPT1
436402,2:55891597:T>C,55891597,NM_033109.4,NM_033109.4:c.1177-2436A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.452,0.001,1KG_EUR_AF,PNPT1
436403,2:55891618:G>T,55891618,NM_033109.4,NM_033109.4:c.1177-2457C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.58,0.0014,1KG_AMR_AF,PNPT1
436404,2:55891626:A>T,55891626,NM_033109.4,NM_033109.4:c.1177-2465T>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.139,\N,\N,PNPT1
436405,2:55891642:T>C,55891642,NM_033109.4,NM_033109.4:c.1177-2481A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.124,\N,\N,PNPT1
436406,2:55891655:A>G,55891655,NM_033109.4,NM_033109.4:c.1176+2471T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.273,\N,\N,PNPT1
436407,2:55891710:A>C,55891710,NM_033109.4,NM_033109.4:c.1176+2416T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.737,0.001,1KG_EAS_AF,PNPT1
436408,2:55891767:A>G,55891767,NM_033109.4,NM_033109.4:c.1176+2359T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.39,\N,\N,PNPT1
436409,2:55891793:A>G,55891793,NM_033109.4,NM_033109.4:c.1176+2333T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.841,0.0015,1KG_AFR_AF,PNPT1
436410,2:55891800:C>T,55891800,NM_033109.4,NM_033109.4:c.1176+2326G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.44,0.001,1KG_SAS_AF,PNPT1
436411,2:55891801:G>A,55891801,NM_033109.4,NM_033109.4:c.1176+2325C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.062,0.004,1KG_EAS_AF,PNPT1
436412,2:55891847:A>C,55891847,NM_033109.4,NM_033109.4:c.1176+2279T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.967,0.001,1KG_SAS_AF,PNPT1
436413,2:55891849:T>C,55891849,NM_033109.4,NM_033109.4:c.1176+2277A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.135,0.0023,1KG_AFR_AF,PNPT1
436414,2:55891873:T>C,55891873,NM_033109.4,NM_033109.4:c.1176+2253A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.288,0.0008,1KG_AFR_AF,PNPT1
436415,2:55891911:T>C,55891911,NM_033109.4,NM_033109.4:c.1176+2215A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.787,0.001,1KG_EUR_AF,PNPT1
436416,2:55891960:C>G,55891960,NM_033109.4,NM_033109.4:c.1176+2166G>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.196,0.003,1KG_EAS_AF,PNPT1
436417,2:55891986:G>A,55891986,NM_033109.4,NM_033109.4:c.1176+2140C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.251,0.0008,1KG_AFR_AF,PNPT1
436418,2:55892002:A>G,55892002,NM_033109.4,NM_033109.4:c.1176+2124T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.458,\N,\N,PNPT1
436419,2:55892034:T>C,55892034,NM_033109.4,NM_033109.4:c.1176+2092A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.333,0.001,1KG_EAS_AF,PNPT1
436420,2:55892052:T>C,55892052,NM_033109.4,NM_033109.4:c.1176+2074A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.636,\N,\N,PNPT1
436421,2:55892070:G>A,55892070,NM_033109.4,NM_033109.4:c.1176+2056C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.134,0.0023,1KG_AFR_AF,PNPT1
436422,2:55892080:T>G,55892080,NM_033109.4,NM_033109.4:c.1176+2046A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.29,0.001,1KG_EUR_AF|1KG_SAS_AF,PNPT1
436423,2:55892090:G>A,55892090,NM_033109.4,NM_033109.4:c.1176+2036C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.846,\N,\N,PNPT1
436424,2:55892173:T>C,55892173,NM_033109.4,NM_033109.4:c.1176+1953A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.348,\N,\N,PNPT1
436425,2:55892204:CT>C,55892204,NM_033109.4,NM_033109.4:c.1176+1921del,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.441,0.0014,1KG_AMR_AF,PNPT1
436426,2:55892205:T>G,55892205,NM_033109.4,NM_033109.4:c.1176+1921A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.621,\N,\N,PNPT1
436427,2:55892251:C>T,55892251,NM_033109.4,NM_033109.4:c.1176+1875G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.661,\N,\N,PNPT1
436428,2:55892261:A>C,55892261,NM_033109.4,NM_033109.4:c.1176+1865T>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.348,0.5378,1KG_EUR_AF,PNPT1
436429,2:55892308:G>T,55892308,NM_033109.4,NM_033109.4:c.1176+1818C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.89,0.0029,1KG_AMR_AF,PNPT1
436430,2:55892356:A>G,55892356,NM_033109.4,NM_033109.4:c.1176+1770T>C,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.962,0.5388,1KG_EUR_AF,PNPT1
436431,2:55892378:C>T,55892378,NM_033109.4,NM_033109.4:c.1176+1748G>A,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.444,0.9796,1KG_AFR_AF,PNPT1
436432,2:55892434:C>T,55892434,NM_033109.4,NM_033109.4:c.1176+1692G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.447,0.0014,1KG_AMR_AF,PNPT1
436433,2:55892453:G>C,55892453,NM_033109.4,NM_033109.4:c.1176+1673C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.744,0.001,1KG_EAS_AF,PNPT1
436434,2:55892510:T>G,55892510,NM_033109.4,NM_033109.4:c.1176+1616A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.953,0.001,1KG_EAS_AF,PNPT1
436435,2:55892576:A>G,55892576,NM_033109.4,NM_033109.4:c.1176+1550T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.232,\N,\N,PNPT1
436436,2:55892593:T>C,55892593,NM_033109.4,NM_033109.4:c.1176+1533A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.55,0.0008,1KG_AFR_AF,PNPT1
436437,2:55892605:GT>G,55892605,NM_033109.4,NM_033109.4:c.1176+1520del,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.531,0.0072,1KG_AMR_AF,PNPT1
436438,2:55892643:G>C,55892643,NM_033109.4,NM_033109.4:c.1176+1483C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.236,0.0008,1KG_AFR_AF,PNPT1
436439,2:55892651:T>A,55892651,NM_033109.4,NM_033109.4:c.1176+1475A>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.503,0.001,1KG_SAS_AF,PNPT1
436440,2:55892729:A>C,55892729,NM_033109.4,NM_033109.4:c.1176+1397T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.955,0.001,1KG_EAS_AF,PNPT1
436441,2:55892733:G>C,55892733,NM_033109.4,NM_033109.4:c.1176+1393C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.741,\N,\N,PNPT1
436442,2:55892763:CACAACTCTAGGGG>C,55892763,NM_033109.4,NM_033109.4:c.1176+1350_1176+1362del,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.283,0.0318,1KG_AFR_AF,PNPT1
436443,2:55892807:G>A,55892807,NM_033109.4,NM_033109.4:c.1176+1319C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.25,0.0014,1KG_AMR_AF,PNPT1
436444,2:55892826:C>A,55892826,NM_033109.4,NM_033109.4:c.1176+1300G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.751,\N,\N,PNPT1
436445,2:55892846:T>C,55892846,NM_033109.4,NM_033109.4:c.1176+1280A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.058,0.0068,1KG_AFR_AF,PNPT1
436446,2:55892858:G>GGGTT,55892858,NM_033109.4,NM_033109.4:c.1176+1267_1176+1268insAACC,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436447,2:55892864:T>C,55892864,NM_033109.4,NM_033109.4:c.1176+1262A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.158,0.001,1KG_EUR_AF,PNPT1
436448,2:55892922:A>C,55892922,NM_033109.4,NM_033109.4:c.1176+1204T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.682,0.001,1KG_EAS_AF,PNPT1
436449,2:55892923:C>A,55892923,NM_033109.4,NM_033109.4:c.1176+1203G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.629,0.001,1KG_EAS_AF,PNPT1
436450,2:55892925:T>C,55892925,NM_033109.4,NM_033109.4:c.1176+1201A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.351,0.001,1KG_EAS_AF,PNPT1
436451,2:55892931:C>T,55892931,NM_033109.4,NM_033109.4:c.1176+1195G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.867,0.0008,1KG_AFR_AF,PNPT1
436452,2:55892940:T>C,55892940,NM_033109.4,NM_033109.4:c.1176+1186A>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.689,0.0083,1KG_AFR_AF,PNPT1
436453,2:55892955:A>G,55892955,NM_033109.4,NM_033109.4:c.1176+1171T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.266,\N,\N,PNPT1
436454,2:55893009:A>C,55893009,NM_033109.4,NM_033109.4:c.1176+1117T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.065,0.001,1KG_EAS_AF,PNPT1
436455,2:55893017:G>A,55893017,NM_033109.4,NM_033109.4:c.1176+1109C>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.859,0.0961,1KG_AFR_AF,PNPT1
436456,2:55893026:T>C,55893026,NM_033109.4,NM_033109.4:c.1176+1100A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.207,\N,\N,PNPT1
436457,2:55893036:C>T,55893036,NM_033109.4,NM_033109.4:c.1176+1090G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.618,\N,\N,PNPT1
436458,2:55893092:AAAG>A,55893092,NM_033109.4,NM_033109.4:c.1176+1031_1176+1033del,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436459,2:55893144:C>T,55893144,NM_033109.4,NM_033109.4:c.1176+982G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.114,0.0008,1KG_AFR_AF,PNPT1
436460,2:55893153:G>A,55893153,NM_033109.4,NM_033109.4:c.1176+973C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.533,0.001,1KG_EUR_AF,PNPT1
436461,2:55893163:G>T,55893163,NM_033109.4,NM_033109.4:c.1176+963C>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.974,0.0008,1KG_AFR_AF,PNPT1
436462,2:55893186:A>G,55893186,NM_033109.4,NM_033109.4:c.1176+940T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.4,0.0014,1KG_AMR_AF,PNPT1
436463,2:55893188:A>C,55893188,NM_033109.4,NM_033109.4:c.1176+938T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.19,\N,\N,PNPT1
436464,2:55893240:A>G,55893240,NM_033109.4,NM_033109.4:c.1176+886T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.036,0.0008,1KG_AFR_AF,PNPT1
436465,2:55893242:C>T,55893242,NM_033109.4,NM_033109.4:c.1176+884G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.703,\N,\N,PNPT1
436466,2:55893265:A>G,55893265,NM_033109.4,NM_033109.4:c.1176+861T>C,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,15.89,0.0121,1KG_AFR_AF,PNPT1
436467,2:55893273:A>G,55893273,NM_033109.4,NM_033109.4:c.1176+853T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.66,\N,\N,PNPT1
436468,2:55893299:C>T,55893299,NM_033109.4,NM_033109.4:c.1176+827G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.467,0.004,1KG_EAS_AF,PNPT1
436469,2:55893306:C>A,55893306,NM_033109.4,NM_033109.4:c.1176+820G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.327,\N,\N,PNPT1
436470,2:55893308:C>T,55893308,NM_033109.4,NM_033109.4:c.1176+818G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.148,0.0041,1KG_SAS_AF,PNPT1
436471,2:55893321:G>C,55893321,NM_033109.4,NM_033109.4:c.1176+805C>G,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.862,0.005,1KG_EUR_AF,PNPT1
436472,2:55893324:G>A,55893324,NM_033109.4,NM_033109.4:c.1176+802C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.843,\N,\N,PNPT1
436473,2:55893334:G>C,55893334,NM_033109.4,NM_033109.4:c.1176+792C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.12,0.0008,1KG_AFR_AF,PNPT1
436474,2:55893336:C>A,55893336,NM_033109.4,NM_033109.4:c.1176+790G>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.979,0.972,1KG_AFR_AF,PNPT1
436475,2:55893341:C>T,55893341,NM_033109.4,NM_033109.4:c.1176+785G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.383,0.001,1KG_EAS_AF,PNPT1
436476,2:55893367:G>C,55893367,NM_033109.4,NM_033109.4:c.1176+759C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.545,0.001,1KG_EUR_AF,PNPT1
436477,2:55893452:G>A,55893452,NM_033109.4,NM_033109.4:c.1176+674C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.972,0.0008,1KG_AFR_AF,PNPT1
436478,2:55893463:A>G,55893463,NM_033109.4,NM_033109.4:c.1176+663T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.514,\N,\N,PNPT1
436479,2:55893465:AT>A,55893465,NM_033109.4,NM_033109.4:c.1176+660del,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.663,0.003,1KG_AFR_AF,PNPT1
436480,2:55893478:C>G,55893478,NM_033109.4,NM_033109.4:c.1176+648G>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.19,\N,\N,PNPT1
436481,2:55893530:A>G,55893530,NM_033109.4,NM_033109.4:c.1176+596T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.796,\N,\N,PNPT1
436482,2:55893542:A>C,55893542,NM_033109.4,NM_033109.4:c.1176+584T>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.752,0.002,1KG_SAS_AF,PNPT1
436483,2:55893590:T>C,55893590,NM_033109.4,NM_033109.4:c.1176+536A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.517,0.001,1KG_SAS_AF,PNPT1
436484,2:55893616:C>T,55893616,NM_033109.4,NM_033109.4:c.1176+510G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.203,\N,\N,PNPT1
436485,2:55893619:T>C,55893619,NM_033109.4,NM_033109.4:c.1176+507A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.547,\N,\N,PNPT1
436486,2:55893621:T>C,55893621,NM_033109.4,NM_033109.4:c.1176+505A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.635,0.001,1KG_SAS_AF,PNPT1
436487,2:55893648:T>C,55893648,NM_033109.4,NM_033109.4:c.1176+478A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.032,\N,\N,PNPT1
436488,2:55893665:T>C,55893665,NM_033109.4,NM_033109.4:c.1176+461A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.529,\N,\N,PNPT1
436489,2:55893687:C>T,55893687,NM_033109.4,NM_033109.4:c.1176+439G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.857,\N,\N,PNPT1
436490,2:55893694:G>A,55893694,NM_033109.4,NM_033109.4:c.1176+432C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.903,\N,\N,PNPT1
436491,2:55893707:G>A,55893707,NM_033109.4,NM_033109.4:c.1176+419C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.134,\N,\N,PNPT1
436492,2:55893728:A>G,55893728,NM_033109.4,NM_033109.4:c.1176+398T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.4,\N,\N,PNPT1
436493,2:55893743:G>A,55893743,NM_033109.4,NM_033109.4:c.1176+383C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.608,\N,\N,PNPT1
436494,2:55893753:T>C,55893753,NM_033109.4,NM_033109.4:c.1176+373A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.179,0.0008,1KG_AFR_AF,PNPT1
436495,2:55893756:C>A,55893756,NM_033109.4,NM_033109.4:c.1176+370G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.68,\N,\N,PNPT1
436496,2:55893767:G>C,55893767,NM_033109.4,NM_033109.4:c.1176+359C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.319,\N,\N,PNPT1
436497,2:55893819:A>G,55893819,NM_033109.4,NM_033109.4:c.1176+307T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.055,0.0008,1KG_AFR_AF,PNPT1
436498,2:55893877:C>T,55893877,NM_033109.4,NM_033109.4:c.1176+249G>A,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.329,0.0133,1KG_SAS_AF,PNPT1
436499,2:55893891:C>T,55893891,NM_033109.4,NM_033109.4:c.1176+235G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.299,0.001,1KG_SAS_AF,PNPT1
436500,2:55893943:C>T,55893943,NM_033109.4,NM_033109.4:c.1176+183G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.677,\N,\N,PNPT1
436501,2:55893950:C>A,55893950,NM_033109.4,NM_033109.4:c.1176+176G>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.118,0.001,1KG_EAS_AF,PNPT1
436502,2:55893994:C>T,55893994,NM_033109.4,NM_033109.4:c.1176+132G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.661,0.0008,1KG_AFR_AF,PNPT1
436503,2:55893995:C>T,55893995,NM_033109.4,NM_033109.4:c.1176+131G>A,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.895,0.0008,1KG_AFR_AF,PNPT1
436504,2:55894070:G>C,55894070,NM_033109.4,NM_033109.4:c.1176+56C>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.14,0.0008,1KG_AFR_AF,PNPT1
436505,2:55894078:T>G,55894078,NM_033109.4,NM_033109.4:c.1176+48A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.553,0.000227583,EVS_AA_AF,PNPT1
436506,2:55894078:TAAAC>T,55894078,NM_033109.4,NM_033109.4:c.1176+44_1176+47del,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.356,0.000790202,EXAC_EAS_AF,PNPT1
436507,2:55894080:A>G,55894080,NM_033109.4,NM_033109.4:c.1176+46T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.891,\N,\N,PNPT1
436508,2:55894083:A>G,55894083,NM_033109.4,NM_033109.4:c.1176+43T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.277,0.0000233231,EXAC_NFE_AF,PNPT1
436509,2:55894085:T>A,55894085,NM_033109.4,NM_033109.4:c.1176+41A>T,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.712,0.0111148,EXAC_SAS_AF,PNPT1
436510,2:55894090:A>G,55894090,NM_033109.4,NM_033109.4:c.1176+36T>C,\N,\N,\N,13/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.007,0.33005,EXAC_AMR_AF,PNPT1
436511,2:55894100:T>C,55894100,NM_033109.4,NM_033109.4:c.1176+26A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.364,0.000373475,EXAC_NFE_AF,PNPT1
436512,2:55894103:T>G,55894103,NM_033109.4,NM_033109.4:c.1176+23A>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.763,0.002,1KG_SAS_AF,PNPT1
436513,2:55894107:A>G,55894107,NM_033109.4,NM_033109.4:c.1176+19T>C,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.85,0.000132908,EXAC_SAS_AF,PNPT1
436514,2:55894108:G>A,55894108,NM_033109.4,NM_033109.4:c.1176+18C>T,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.824,0.0000195259,EXAC_NFE_AF,PNPT1
436515,2:55894114:T>C,55894114,NM_033109.4,NM_033109.4:c.1176+12A>G,\N,\N,\N,13/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3,0.000358766,EXAC_SAS_AF,PNPT1
436516,2:55894118:TA>T,55894118,NM_033109.4,NM_033109.4:c.1176+7del,\N,\N,\N,13/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.738,0.000158534,EXAC_NFE_AF,PNPT1
436517,2:55894122:T>C,55894122,NM_033109.4,NM_033109.4:c.1176+4A>G,\N,\N,\N,13/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,12.99,0.000207987,EXAC_SAS_AF,PNPT1
436518,2:55894127:T>C,55894127,NM_033109.4,NM_033109.4:c.1175A>G,NP_149100.2:p.Gln392Arg,392,13/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.6,0.000154703,EXAC_FIN_AF,PNPT1
436519,2:55894129:T>C,55894129,NM_033109.4,NM_033109.4:c.1173A>G,NP_149100.2:p.Thr391=,391,13/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.934,0.00123457,EXAC_OTH_AF,PNPT1
436520,2:55894130:G>A,55894130,NM_033109.4,NM_033109.4:c.1172C>T,NP_149100.2:p.Thr391Ile,391,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.0000897344,EXAC_SAS_AF,PNPT1
436521,2:55894142:T>C,55894142,NM_033109.4,NM_033109.4:c.1160A>G,NP_149100.2:p.Gln387Arg,387,13/28,\N,Pathogenic,Respiratory chain deficiency,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.9,\N,\N,PNPT1
436522,2:55894154:G>A,55894154,NM_033109.4,NM_033109.4:c.1148C>T,NP_149100.2:p.Ser383Leu,383,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.000015345,EXAC_NFE_AF,PNPT1
436523,2:55894155:A>C,55894155,NM_033109.4,NM_033109.4:c.1147T>G,NP_149100.2:p.Ser383Ala,383,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,25.4,0.00017449,EXAC_AMR_AF,PNPT1
436524,2:55894161:G>A,55894161,NM_033109.4,NM_033109.4:c.1141C>T,NP_149100.2:p.His381Tyr,381,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,\N,\N,PNPT1
436525,2:55894175:A>G,55894175,NM_033109.4,NM_033109.4:c.1127T>C,NP_149100.2:p.Met376Thr,376,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,21.5,0.000453926,EVS_AA_AF,PNPT1
436526,2:55894179:C>G,55894179,NM_033109.4,NM_033109.4:c.1123G>C,NP_149100.2:p.Asp375His,375,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,29.4,0.0000151341,EXAC_NFE_AF,PNPT1
436527,2:55894181:A>G,55894181,NM_033109.4,NM_033109.4:c.1121T>C,NP_149100.2:p.Val374Ala,374,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.000226963,EVS_AA_AF,PNPT1
436528,2:55894190:C>T,55894190,NM_033109.4,NM_033109.4:c.1112G>A,NP_149100.2:p.Ser371Asn,371,13/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,20.4,0.0008,1KG_AFR_AF,PNPT1
436529,2:55894203:G>A,55894203,NM_033109.4,NM_033109.4:c.1099C>T,NP_149100.2:p.Leu367Phe,367,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,24.7,0.00135449,EXAC_AFR_AF,PNPT1
436530,2:55894217:C>T,55894217,NM_033109.4,NM_033109.4:c.1085G>A,NP_149100.2:p.Arg362Gln,362,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,PNPase/RNase PH domain;Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,35,0.000226963,EVS_AA_AF,PNPT1
436531,2:55894218:G>A,55894218,NM_033109.4,NM_033109.4:c.1084C>T,NP_149100.2:p.Arg362Trp,362,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,PNPase/RNase PH domain;Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.000116279,EVS_EA_AF,PNPT1
436532,2:55894221:C>T,55894221,NM_033109.4,NM_033109.4:c.1081G>A,NP_149100.2:p.Gly361Ser,361,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,PNPase/RNase PH domain;Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.0000150943,EXAC_NFE_AF,PNPT1
436533,2:55894224:C>T,55894224,NM_033109.4,NM_033109.4:c.1078G>A,NP_149100.2:p.Asp360Asn,360,13/28,\N,Unknown significance,\N,missense_variant,MODERATE,PNPase/RNase PH domain;Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.000116333,EXAC_EAS_AF,PNPT1
436534,2:55894225:G>A,55894225,NM_033109.4,NM_033109.4:c.1077C>T,NP_149100.2:p.Cys359=,359,13/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.14,0.000305923,EXAC_SAS_AF,PNPT1
436535,2:55894232:T>A,55894232,NM_033109.4,NM_033109.4:c.1074-4A>T,\N,\N,\N,12/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,11.31,0.0144,1KG_AFR_AF,PNPT1
436536,2:55894232:T>C,55894232,NM_033109.4,NM_033109.4:c.1074-4A>G,\N,\N,\N,12/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.52,0.0000614326,EXAC_SAS_AF,PNPT1
436537,2:55894234:G>A,55894234,NM_033109.4,NM_033109.4:c.1074-6C>T,\N,\N,\N,12/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,7.148,0.000116279,EVS_EA_AF,PNPT1
436538,2:55894240:T>C,55894240,NM_033109.4,NM_033109.4:c.1074-12A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.245,0.000116279,EVS_EA_AF,PNPT1
436539,2:55894243:G>A,55894243,NM_033109.4,NM_033109.4:c.1074-15C>T,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.315,0.0521064,EXAC_OTH_AF,PNPT1
436540,2:55894244:A>G,55894244,NM_033109.4,NM_033109.4:c.1074-16T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.276,0.000710564,EXAC_EAS_AF,PNPT1
436541,2:55894247:T>C,55894247,NM_033109.4,NM_033109.4:c.1074-19A>G,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.024,0.573282,EXAC_FIN_AF,PNPT1
436542,2:55894253:C>T,55894253,NM_033109.4,NM_033109.4:c.1074-25G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.832,0.0000158353,EXAC_NFE_AF,PNPT1
436543,2:55894255:TTAAG>T,55894255,NM_033109.4,NM_033109.4:c.1074-31_1074-28del,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.275,0.000100442,EXAC_AFR_AF,PNPT1
436544,2:55894256:T>C,55894256,NM_033109.4,NM_033109.4:c.1074-28A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.605,\N,\N,PNPT1
436545,2:55894258:A>C,55894258,NM_033109.4,NM_033109.4:c.1074-30T>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.256,0.004,1KG_EAS_AF,PNPT1
436546,2:55894263:C>G,55894263,NM_033109.4,NM_033109.4:c.1074-35G>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.086,0.0000635486,EXAC_SAS_AF,PNPT1
436547,2:55894263:C>T,55894263,NM_033109.4,NM_033109.4:c.1074-35G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.139,0.0000924898,EXAC_AMR_AF,PNPT1
436548,2:55894264:G>A,55894264,NM_033109.4,NM_033109.4:c.1074-36C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.045,0.0008,1KG_AFR_AF,PNPT1
436549,2:55894269:A>T,55894269,NM_033109.4,NM_033109.4:c.1074-41T>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.446,0.00462963,EXAC_OTH_AF,PNPT1
436550,2:55894270:A>C,55894270,NM_033109.4,NM_033109.4:c.1074-42T>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.977,0.0000641601,EXAC_SAS_AF,PNPT1
436551,2:55894283:CAT>C,55894283,NM_033109.4,NM_033109.4:c.1074-57_1074-56del,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.925,\N,\N,PNPT1
436552,2:55894292:A>C,55894292,NM_033109.4,NM_033109.4:c.1074-64T>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.864,0.0014,1KG_AMR_AF,PNPT1
436553,2:55894296:C>T,55894296,NM_033109.4,NM_033109.4:c.1074-68G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.747,0.002,1KG_SAS_AF,PNPT1
436554,2:55894315:C>T,55894315,NM_033109.4,NM_033109.4:c.1074-87G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.762,0.0008,1KG_AFR_AF,PNPT1
436555,2:55894319:G>A,55894319,NM_033109.4,NM_033109.4:c.1074-91C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.993,0.0008,1KG_AFR_AF,PNPT1
436556,2:55894386:A>G,55894386,NM_033109.4,NM_033109.4:c.1074-158T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.771,0.001,1KG_EAS_AF,PNPT1
436557,2:55894393:C>A,55894393,NM_033109.4,NM_033109.4:c.1074-165G>T,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.146,0.0089,1KG_EAS_AF,PNPT1
436558,2:55894419:T>G,55894419,NM_033109.4,NM_033109.4:c.1074-191A>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.947,0.002,1KG_EAS_AF,PNPT1
436559,2:55894422:T>C,55894422,NM_033109.4,NM_033109.4:c.1074-194A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.218,\N,\N,PNPT1
436560,2:55894424:T>C,55894424,NM_033109.4,NM_033109.4:c.1074-196A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.469,\N,\N,PNPT1
436561,2:55894428:G>A,55894428,NM_033109.4,NM_033109.4:c.1074-200C>T,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.016,0.6589,1KG_AFR_AF,PNPT1
436562,2:55894446:T>C,55894446,NM_033109.4,NM_033109.4:c.1074-218A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.299,0.001,1KG_EAS_AF,PNPT1
436563,2:55894452:G>A,55894452,NM_033109.4,NM_033109.4:c.1074-224C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.057,0.001,1KG_SAS_AF,PNPT1
436564,2:55894455:C>T,55894455,NM_033109.4,NM_033109.4:c.1074-227G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.811,\N,\N,PNPT1
436565,2:55894456:G>A,55894456,NM_033109.4,NM_033109.4:c.1074-228C>T,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.589,0.1311,1KG_AMR_AF,PNPT1
436566,2:55894458:G>A,55894458,NM_033109.4,NM_033109.4:c.1074-230C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.134,\N,\N,PNPT1
436567,2:55894484:C>G,55894484,NM_033109.4,NM_033109.4:c.1074-256G>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.294,0.002,1KG_EAS_AF,PNPT1
436568,2:55894495:C>T,55894495,NM_033109.4,NM_033109.4:c.1074-267G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.061,\N,\N,PNPT1
436569,2:55894534:C>A,55894534,NM_033109.4,NM_033109.4:c.1074-306G>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.088,0.0014,1KG_AMR_AF,PNPT1
436570,2:55894546:G>A,55894546,NM_033109.4,NM_033109.4:c.1074-318C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.073,0.001,1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PNPT1
436571,2:55894556:C>T,55894556,NM_033109.4,NM_033109.4:c.1074-328G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.208,\N,\N,PNPT1
436572,2:55894584:C>T,55894584,NM_033109.4,NM_033109.4:c.1074-356G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.229,0.0014,1KG_AMR_AF,PNPT1
436573,2:55894590:A>G,55894590,NM_033109.4,NM_033109.4:c.1074-362T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.411,0.0014,1KG_AMR_AF,PNPT1
436574,2:55894595:G>C,55894595,NM_033109.4,NM_033109.4:c.1074-367C>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.424,0.0015,1KG_AFR_AF,PNPT1
436575,2:55894645:C>T,55894645,NM_033109.4,NM_033109.4:c.1073+352G>A,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.448,0.0061,1KG_AFR_AF,PNPT1
436576,2:55894655:G>A,55894655,NM_033109.4,NM_033109.4:c.1073+342C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.927,0.0008,1KG_AFR_AF,PNPT1
436577,2:55894665:C>T,55894665,NM_033109.4,NM_033109.4:c.1073+332G>A,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.066,0.0348,1KG_AFR_AF,PNPT1
436578,2:55894673:G>A,55894673,NM_033109.4,NM_033109.4:c.1073+324C>T,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.257,0.005,1KG_EAS_AF,PNPT1
436579,2:55894693:C>T,55894693,NM_033109.4,NM_033109.4:c.1073+304G>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.033,0.0008,1KG_AFR_AF,PNPT1
436580,2:55894710:G>A,55894710,NM_033109.4,NM_033109.4:c.1073+287C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.44,0.0008,1KG_AFR_AF,PNPT1
436581,2:55894719:TC>T,55894719,NM_033109.4,NM_033109.4:c.1073+277del,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.469,\N,\N,PNPT1
436582,2:55894719:TCA>T,55894719,NM_033109.4,NM_033109.4:c.1073+276_1073+277del,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436583,2:55894720:CA>C,55894720,NM_033109.4,NM_033109.4:c.1073+276del,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.396,\N,\N,PNPT1
436584,2:55894732:A>C,55894732,NM_033109.4,NM_033109.4:c.1073+265T>G,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.459,0.0228,1KG_EAS_AF,PNPT1
436585,2:55894736:AAAAC>A,55894736,NM_033109.4,NM_033109.4:c.1073+257_1073+260del,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.852,0.008,1KG_EUR_AF,PNPT1
436586,2:55894758:T>C,55894758,NM_033109.4,NM_033109.4:c.1073+239A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.769,\N,\N,PNPT1
436587,2:55894765:A>T,55894765,NM_033109.4,NM_033109.4:c.1073+232T>A,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.222,\N,\N,PNPT1
436588,2:55894766:A>G,55894766,NM_033109.4,NM_033109.4:c.1073+231T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.276,0.0008,1KG_AFR_AF,PNPT1
436589,2:55894768:C>G,55894768,NM_033109.4,NM_033109.4:c.1073+229G>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.668,0.0008,1KG_AFR_AF,PNPT1
436590,2:55894775:T>C,55894775,NM_033109.4,NM_033109.4:c.1073+222A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.28,0.0008,1KG_AFR_AF,PNPT1
436591,2:55894778:A>G,55894778,NM_033109.4,NM_033109.4:c.1073+219T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.418,0.001,1KG_EUR_AF,PNPT1
436592,2:55894803:A>G,55894803,NM_033109.4,NM_033109.4:c.1073+194T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.548,0.0008,1KG_AFR_AF,PNPT1
436593,2:55894823:A>G,55894823,NM_033109.4,NM_033109.4:c.1073+174T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.327,0.004,1KG_EAS_AF,PNPT1
436594,2:55894837:T>G,55894837,NM_033109.4,NM_033109.4:c.1073+160A>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.073,0.0029,1KG_AMR_AF,PNPT1
436595,2:55894844:T>C,55894844,NM_033109.4,NM_033109.4:c.1073+153A>G,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.856,0.0053,1KG_AFR_AF,PNPT1
436596,2:55894844:TTTC>T,55894844,NM_033109.4,NM_033109.4:c.1073+150_1073+152del,\N,\N,\N,12/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.681,0.0129,1KG_AFR_AF,PNPT1
436597,2:55894858:G>A,55894858,NM_033109.4,NM_033109.4:c.1073+139C>T,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.744,0.002,1KG_EUR_AF,PNPT1
436598,2:55894862:A>G,55894862,NM_033109.4,NM_033109.4:c.1073+135T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.973,0.001,1KG_SAS_AF,PNPT1
436599,2:55894869:T>C,55894869,NM_033109.4,NM_033109.4:c.1073+128A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.838,0.001,1KG_SAS_AF,PNPT1
436600,2:55894948:T>C,55894948,NM_033109.4,NM_033109.4:c.1073+49A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.61,0.00026936,EXAC_SAS_AF,PNPT1
436601,2:55894959:G>C,55894959,NM_033109.4,NM_033109.4:c.1073+38C>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.51,0.0000670871,EXAC_SAS_AF,PNPT1
436602,2:55894964:T>C,55894964,NM_033109.4,NM_033109.4:c.1073+33A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.743,0.000140489,EXAC_EAS_AF,PNPT1
436603,2:55894971:A>G,55894971,NM_033109.4,NM_033109.4:c.1073+26T>C,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.8,0.000214961,EXAC_AMR_AF,PNPT1
436604,2:55894988:T>C,55894988,NM_033109.4,NM_033109.4:c.1073+9A>G,\N,\N,\N,12/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.5,0.0000179353,EXAC_NFE_AF,PNPT1
436605,2:55895000:T>C,55895000,NM_033109.4,NM_033109.4:c.1070A>G,NP_149100.2:p.Lys357Arg,357,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,11.43,0.0000171692,EXAC_NFE_AF,PNPT1
436606,2:55895001:T>G,55895001,NM_033109.4,NM_033109.4:c.1069A>C,NP_149100.2:p.Lys357Gln,357,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,21.4,0.000101729,EXAC_AFR_AF,PNPT1
436607,2:55895010:T>A,55895010,NM_033109.4,NM_033109.4:c.1060A>T,NP_149100.2:p.Asn354Tyr,354,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.000016443,EXAC_NFE_AF,PNPT1
436608,2:55895021:C>A,55895021,NM_033109.4,NM_033109.4:c.1049G>T,NP_149100.2:p.Ser350Ile,350,12/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,23.8,0.0008,1KG_AFR_AF,PNPT1
436609,2:55895024:C>T,55895024,NM_033109.4,NM_033109.4:c.1046G>A,NP_149100.2:p.Arg349Lys,349,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,34,\N,\N,PNPT1
436610,2:55895028:A>C,55895028,NM_033109.4,NM_033109.4:c.1042T>G,NP_149100.2:p.Phe348Val,348,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain;Ribosomal protein S5 domain 2-type fold,\N,28.2,0.000200401,EXAC_AFR_AF,PNPT1
436611,2:55895038:T>A,55895038,NM_033109.4,NM_033109.4:c.1032A>T,NP_149100.2:p.Ala344=,344,12/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.15,0.0000157129,EXAC_NFE_AF,PNPT1
436612,2:55895040:C>T,55895040,NM_033109.4,NM_033109.4:c.1030G>A,NP_149100.2:p.Ala344Thr,344,12/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,14.27,\N,\N,PNPT1
436613,2:55895043:C>G,55895043,NM_033109.4,NM_033109.4:c.1027G>C,NP_149100.2:p.Val343Leu,343,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,17.49,0.0000783748,EXAC_NFE_AF,PNPT1
436614,2:55895044:A>G,55895044,NM_033109.4,NM_033109.4:c.1026T>C,NP_149100.2:p.Val342=,342,12/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.982,0.0000882145,EXAC_AMR_AF,PNPT1
436615,2:55895048:T>C,55895048,NM_033109.4,NM_033109.4:c.1022A>G,NP_149100.2:p.Asn341Ser,341,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,14.17,0.000441306,EXAC_AMR_AF,PNPT1
436616,2:55895053:G>T,55895053,NM_033109.4,NM_033109.4:c.1017C>A,NP_149100.2:p.Ser339=,339,12/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.07,\N,\N,PNPT1
436617,2:55895058:C>T,55895058,NM_033109.4,NM_033109.4:c.1012G>A,NP_149100.2:p.Glu338Lys,338,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,24.3,0.0000157689,EXAC_NFE_AF,PNPT1
436618,2:55895069:T>C,55895069,NM_033109.4,NM_033109.4:c.1001A>G,NP_149100.2:p.Tyr334Cys,334,12/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,7.034,0.000125691,EXAC_SAS_AF,PNPT1
436619,2:55895071:T>A,55895071,NM_033109.4,NM_033109.4:c.999A>T,NP_149100.2:p.Pro333=,333,12/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.096,0.000252048,EXAC_SAS_AF,PNPT1
436620,2:55895071:T>C,55895071,NM_033109.4,NM_033109.4:c.999A>G,NP_149100.2:p.Pro333=,333,12/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.643,0.0000323541,EXAC_NFE_AF,PNPT1
436621,2:55895073:G>A,55895073,NM_033109.4,NM_033109.4:c.997C>T,NP_149100.2:p.Pro333Ser,333,12/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,0.189,0.0008,1KG_AFR_AF,PNPT1
436622,2:55895075:T>C,55895075,NM_033109.4,NM_033109.4:c.995A>G,NP_149100.2:p.Asp332Gly,332,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,15.88,0.0000163639,EXAC_NFE_AF,PNPT1
436623,2:55895076:C>T,55895076,NM_033109.4,NM_033109.4:c.994G>A,NP_149100.2:p.Asp332Asn,332,12/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,22.6,0.0000633232,EXAC_SAS_AF,PNPT1
436624,2:55895077:G>A,55895077,NM_033109.4,NM_033109.4:c.993C>T,NP_149100.2:p.Ala331=,331,12/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.714,0.000253743,EXAC_SAS_AF,PNPT1
436625,2:55895097:T>C,55895097,NM_033109.4,NM_033109.4:c.977-4A>G,\N,\N,\N,11/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.902,0.000132732,EXAC_EAS_AF,PNPT1
436626,2:55895099:G>C,55895099,NM_033109.4,NM_033109.4:c.977-6C>G,\N,\N,\N,11/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,8.401,\N,\N,PNPT1
436627,2:55895106:G>A,55895106,NM_033109.4,NM_033109.4:c.977-13C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.99,0.000562272,EXAC_EAS_AF,PNPT1
436628,2:55895106:G>T,55895106,NM_033109.4,NM_033109.4:c.977-13C>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.59,0.0000684556,EXAC_SAS_AF,PNPT1
436629,2:55895108:C>G,55895108,NM_033109.4,NM_033109.4:c.977-15G>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.894,0.000139704,EXAC_SAS_AF,PNPT1
436630,2:55895136:TA>T,55895136,NM_033109.4,NM_033109.4:c.977-44del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.026,0.0000280804,EXAC_NFE_AF,PNPT1
436631,2:55895139:G>A,55895139,NM_033109.4,NM_033109.4:c.977-46C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.013,\N,\N,PNPT1
436632,2:55895143:T>C,55895143,NM_033109.4,NM_033109.4:c.977-50A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.603,0.0000594884,EXAC_NFE_AF,PNPT1
436633,2:55895152:T>C,55895152,NM_033109.4,NM_033109.4:c.977-59A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.109,0.0015,1KG_AFR_AF,PNPT1
436634,2:55895163:T>C,55895163,NM_033109.4,NM_033109.4:c.977-70A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.912,0.0031,1KG_SAS_AF,PNPT1
436635,2:55895174:C>T,55895174,NM_033109.4,NM_033109.4:c.977-81G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.229,0.0008,1KG_AFR_AF,PNPT1
436636,2:55895210:T>G,55895210,NM_033109.4,NM_033109.4:c.977-117A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.428,0.0008,1KG_AFR_AF,PNPT1
436637,2:55895215:G>A,55895215,NM_033109.4,NM_033109.4:c.977-122C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.919,\N,\N,PNPT1
436638,2:55895218:T>TA,55895218,NM_033109.4,NM_033109.4:c.977-126dup,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436639,2:55895221:T>C,55895221,NM_033109.4,NM_033109.4:c.977-128A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.913,\N,\N,PNPT1
436640,2:55895272:C>T,55895272,NM_033109.4,NM_033109.4:c.977-179G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.918,\N,\N,PNPT1
436641,2:55895281:C>T,55895281,NM_033109.4,NM_033109.4:c.977-188G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.357,\N,\N,PNPT1
436642,2:55895299:T>A,55895299,NM_033109.4,NM_033109.4:c.977-206A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.24,0.001,1KG_EAS_AF,PNPT1
436643,2:55895305:T>C,55895305,NM_033109.4,NM_033109.4:c.977-212A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.701,0.2619,1KG_EAS_AF,PNPT1
436644,2:55895321:T>C,55895321,NM_033109.4,NM_033109.4:c.977-228A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.21,0.9788,1KG_AFR_AF,PNPT1
436645,2:55895341:A>G,55895341,NM_033109.4,NM_033109.4:c.977-248T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.733,0.001,1KG_EUR_AF,PNPT1
436646,2:55895343:G>C,55895343,NM_033109.4,NM_033109.4:c.977-250C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.376,0.001,1KG_EUR_AF,PNPT1
436647,2:55895347:G>C,55895347,NM_033109.4,NM_033109.4:c.977-254C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.489,\N,\N,PNPT1
436648,2:55895402:C>T,55895402,NM_033109.4,NM_033109.4:c.977-309G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.672,\N,\N,PNPT1
436649,2:55895405:T>G,55895405,NM_033109.4,NM_033109.4:c.977-312A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.668,\N,\N,PNPT1
436650,2:55895409:T>C,55895409,NM_033109.4,NM_033109.4:c.977-316A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.382,\N,\N,PNPT1
436651,2:55895410:T>A,55895410,NM_033109.4,NM_033109.4:c.977-317A>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.95,0.0151,1KG_AFR_AF,PNPT1
436652,2:55895432:C>T,55895432,NM_033109.4,NM_033109.4:c.977-339G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.022,\N,\N,PNPT1
436653,2:55895433:G>A,55895433,NM_033109.4,NM_033109.4:c.977-340C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.513,\N,\N,PNPT1
436654,2:55895437:T>C,55895437,NM_033109.4,NM_033109.4:c.977-344A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.463,0.0008,1KG_AFR_AF,PNPT1
436655,2:55895440:T>C,55895440,NM_033109.4,NM_033109.4:c.977-347A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.034,0.002,1KG_EUR_AF,PNPT1
436656,2:55895496:T>C,55895496,NM_033109.4,NM_033109.4:c.977-403A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.688,\N,\N,PNPT1
436657,2:55895497:G>C,55895497,NM_033109.4,NM_033109.4:c.977-404C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.595,0.001,1KG_EAS_AF,PNPT1
436658,2:55895516:C>T,55895516,NM_033109.4,NM_033109.4:c.977-423G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.339,0.0014,1KG_AMR_AF,PNPT1
436659,2:55895540:T>A,55895540,NM_033109.4,NM_033109.4:c.977-447A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.677,0.001,1KG_SAS_AF,PNPT1
436660,2:55895563:G>A,55895563,NM_033109.4,NM_033109.4:c.977-470C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.902,0.0015,1KG_AFR_AF,PNPT1
436661,2:55895564:G>A,55895564,NM_033109.4,NM_033109.4:c.977-471C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.803,0.003,1KG_EAS_AF,PNPT1
436662,2:55895577:G>A,55895577,NM_033109.4,NM_033109.4:c.977-484C>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.411,0.0068,1KG_AFR_AF,PNPT1
436663,2:55895597:T>C,55895597,NM_033109.4,NM_033109.4:c.977-504A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.872,0.0023,1KG_AFR_AF,PNPT1
436664,2:55895624:T>C,55895624,NM_033109.4,NM_033109.4:c.977-531A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.029,0.002,1KG_SAS_AF,PNPT1
436665,2:55895631:G>A,55895631,NM_033109.4,NM_033109.4:c.977-538C>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.235,0.1064,1KG_EUR_AF,PNPT1
436666,2:55895640:T>C,55895640,NM_033109.4,NM_033109.4:c.977-547A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.917,0.001,1KG_EAS_AF,PNPT1
436667,2:55895650:G>A,55895650,NM_033109.4,NM_033109.4:c.977-557C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.734,\N,\N,PNPT1
436668,2:55895653:G>A,55895653,NM_033109.4,NM_033109.4:c.977-560C>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.271,0.0149,1KG_EAS_AF,PNPT1
436669,2:55895666:C>T,55895666,NM_033109.4,NM_033109.4:c.977-573G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.771,\N,\N,PNPT1
436670,2:55895668:C>T,55895668,NM_033109.4,NM_033109.4:c.977-575G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.545,0.0014,1KG_AMR_AF,PNPT1
436671,2:55895708:T>A,55895708,NM_033109.4,NM_033109.4:c.977-615A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.448,\N,\N,PNPT1
436672,2:55895711:A>C,55895711,NM_033109.4,NM_033109.4:c.977-618T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.289,\N,\N,PNPT1
436673,2:55895752:G>T,55895752,NM_033109.4,NM_033109.4:c.977-659C>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.096,\N,\N,PNPT1
436674,2:55895788:G>A,55895788,NM_033109.4,NM_033109.4:c.977-695C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.705,0.0014,1KG_AMR_AF,PNPT1
436675,2:55895833:C>G,55895833,NM_033109.4,NM_033109.4:c.977-740G>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.845,0.001,1KG_EAS_AF,PNPT1
436676,2:55895870:G>C,55895870,NM_033109.4,NM_033109.4:c.977-777C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.833,\N,\N,PNPT1
436677,2:55895875:T>C,55895875,NM_033109.4,NM_033109.4:c.977-782A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.161,\N,\N,PNPT1
436678,2:55895906:T>C,55895906,NM_033109.4,NM_033109.4:c.977-813A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.448,0.0008,1KG_AFR_AF,PNPT1
436679,2:55895943:C>A,55895943,NM_033109.4,NM_033109.4:c.977-850G>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.393,0.0014,1KG_AMR_AF,PNPT1
436680,2:55895951:G>A,55895951,NM_033109.4,NM_033109.4:c.977-858C>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.651,0.0092,1KG_SAS_AF,PNPT1
436681,2:55895976:C>G,55895976,NM_033109.4,NM_033109.4:c.977-883G>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.816,\N,\N,PNPT1
436682,2:55895992:C>G,55895992,NM_033109.4,NM_033109.4:c.977-899G>C,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.221,0.0968,1KG_AFR_AF,PNPT1
436683,2:55896025:G>C,55896025,NM_033109.4,NM_033109.4:c.977-932C>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.115,0.0112,1KG_SAS_AF,PNPT1
436684,2:55896069:T>C,55896069,NM_033109.4,NM_033109.4:c.977-976A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.83,0.0014,1KG_AMR_AF,PNPT1
436685,2:55896075:C>T,55896075,NM_033109.4,NM_033109.4:c.977-982G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.867,0.0014,1KG_AMR_AF,PNPT1
436686,2:55896077:TTAATC>T,55896077,NM_033109.4,NM_033109.4:c.977-989_977-985del,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,14.9,0.0089,1KG_EAS_AF,PNPT1
436687,2:55896096:T>C,55896096,NM_033109.4,NM_033109.4:c.977-1003A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.13,\N,\N,PNPT1
436688,2:55896104:A>C,55896104,NM_033109.4,NM_033109.4:c.977-1011T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.996,0.0008,1KG_AFR_AF,PNPT1
436689,2:55896109:T>A,55896109,NM_033109.4,NM_033109.4:c.977-1016A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.562,0.001,1KG_EAS_AF,PNPT1
436690,2:55896113:A>C,55896113,NM_033109.4,NM_033109.4:c.977-1020T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.197,0.001,1KG_EAS_AF,PNPT1
436691,2:55896122:G>A,55896122,NM_033109.4,NM_033109.4:c.977-1029C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.16,\N,\N,PNPT1
436692,2:55896174:C>T,55896174,NM_033109.4,NM_033109.4:c.977-1081G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.862,0.001,1KG_EAS_AF,PNPT1
436693,2:55896220:T>G,55896220,NM_033109.4,NM_033109.4:c.977-1127A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.656,\N,\N,PNPT1
436694,2:55896296:G>C,55896296,NM_033109.4,NM_033109.4:c.977-1203C>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.328,0.0818,1KG_SAS_AF,PNPT1
436695,2:55896298:T>C,55896298,NM_033109.4,NM_033109.4:c.977-1205A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.29,0.008,1KG_EUR_AF,PNPT1
436696,2:55896312:A>T,55896312,NM_033109.4,NM_033109.4:c.977-1219T>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.92,0.0726,1KG_SAS_AF,PNPT1
436697,2:55896319:AAC>A,55896319,NM_033109.4,NM_033109.4:c.977-1228_977-1227del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.371,\N,\N,PNPT1
436698,2:55896320:AC>A,55896320,NM_033109.4,NM_033109.4:c.977-1228del,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.561,0.3941,1KG_AFR_AF,PNPT1
436699,2:55896334:T>C,55896334,NM_033109.4,NM_033109.4:c.977-1241A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.624,\N,\N,PNPT1
436700,2:55896383:A>T,55896383,NM_033109.4,NM_033109.4:c.977-1290T>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.427,0.0144,1KG_AFR_AF,PNPT1
436701,2:55896405:T>G,55896405,NM_033109.4,NM_033109.4:c.977-1312A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.064,0.002,1KG_EAS_AF,PNPT1
436702,2:55896424:T>C,55896424,NM_033109.4,NM_033109.4:c.977-1331A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.842,0.002,1KG_SAS_AF,PNPT1
436703,2:55896441:ATTTTT>A,55896441,NM_033109.4,NM_033109.4:c.977-1353_977-1349del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436704,2:55896453:G>A,55896453,NM_033109.4,NM_033109.4:c.977-1360C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.664,\N,\N,PNPT1
436705,2:55896482:T>A,55896482,NM_033109.4,NM_033109.4:c.977-1389A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.007,0.0008,1KG_AFR_AF,PNPT1
436706,2:55896514:T>C,55896514,NM_033109.4,NM_033109.4:c.977-1421A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.732,\N,\N,PNPT1
436707,2:55896531:T>A,55896531,NM_033109.4,NM_033109.4:c.977-1438A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.443,0.002,1KG_EAS_AF,PNPT1
436708,2:55896592:A>G,55896592,NM_033109.4,NM_033109.4:c.977-1499T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.769,0.0045,1KG_AFR_AF,PNPT1
436709,2:55896598:T>C,55896598,NM_033109.4,NM_033109.4:c.977-1505A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.575,0.407,1KG_SAS_AF,PNPT1
436710,2:55896604:T>C,55896604,NM_033109.4,NM_033109.4:c.977-1511A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.182,0.002,1KG_EAS_AF,PNPT1
436711,2:55896625:T>C,55896625,NM_033109.4,NM_033109.4:c.977-1532A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.059,0.0089,1KG_EUR_AF,PNPT1
436712,2:55896639:A>G,55896639,NM_033109.4,NM_033109.4:c.977-1546T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.909,0.002,1KG_SAS_AF,PNPT1
436713,2:55896649:C>T,55896649,NM_033109.4,NM_033109.4:c.977-1556G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.493,\N,\N,PNPT1
436714,2:55896686:A>G,55896686,NM_033109.4,NM_033109.4:c.977-1593T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.932,0.001,1KG_SAS_AF,PNPT1
436715,2:55896714:C>A,55896714,NM_033109.4,NM_033109.4:c.977-1621G>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.666,0.002,1KG_EAS_AF,PNPT1
436716,2:55896721:G>A,55896721,NM_033109.4,NM_033109.4:c.977-1628C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.115,\N,\N,PNPT1
436717,2:55896729:G>C,55896729,NM_033109.4,NM_033109.4:c.977-1636C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.582,0.0008,1KG_AFR_AF,PNPT1
436718,2:55896734:TCTA>T,55896734,NM_033109.4,NM_033109.4:c.977-1644_977-1642del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436719,2:55896749:A>G,55896749,NM_033109.4,NM_033109.4:c.977-1656T>C,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.612,0.0189,1KG_AFR_AF,PNPT1
436720,2:55896865:A>G,55896865,NM_033109.4,NM_033109.4:c.976+1589T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.055,0.001,1KG_SAS_AF,PNPT1
436721,2:55896867:T>C,55896867,NM_033109.4,NM_033109.4:c.976+1587A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.52,\N,\N,PNPT1
436722,2:55896875:C>T,55896875,NM_033109.4,NM_033109.4:c.976+1579G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.62,0.001,1KG_SAS_AF,PNPT1
436723,2:55896877:T>C,55896877,NM_033109.4,NM_033109.4:c.976+1577A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.23,0.0053,1KG_AFR_AF,PNPT1
436724,2:55896896:A>ACT,55896896,NM_033109.4,NM_033109.4:c.976+1556_976+1557dup,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436725,2:55896896:AC>A,55896896,NM_033109.4,NM_033109.4:c.976+1557del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.927,\N,\N,PNPT1
436726,2:55896896:ACT>A,55896896,NM_033109.4,NM_033109.4:c.976+1556_976+1557del,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.123,0.9743,1KG_AFR_AF,PNPT1
436727,2:55896896:ACTT>A,55896896,NM_033109.4,NM_033109.4:c.976+1555_976+1557del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.008,\N,\N,PNPT1
436728,2:55896897:C>T,55896897,NM_033109.4,NM_033109.4:c.976+1557G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.034,0.8396,1KG_AFR_AF,PNPT1
436729,2:55896897:CT>C,55896897,NM_033109.4,NM_033109.4:c.976+1556del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436730,2:55896913:TG>T,55896913,NM_033109.4,NM_033109.4:c.976+1540del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436731,2:55896913:TGA>T,55896913,NM_033109.4,NM_033109.4:c.976+1539_976+1540del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436732,2:55896928:C>T,55896928,NM_033109.4,NM_033109.4:c.976+1526G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.96,\N,\N,PNPT1
436733,2:55896952:G>A,55896952,NM_033109.4,NM_033109.4:c.976+1502C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.005,0.002,1KG_SAS_AF,PNPT1
436734,2:55896956:C>T,55896956,NM_033109.4,NM_033109.4:c.976+1498G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.221,0.0076,1KG_AFR_AF,PNPT1
436735,2:55896978:C>G,55896978,NM_033109.4,NM_033109.4:c.976+1476G>C,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.225,0.0266,1KG_SAS_AF,PNPT1
436736,2:55897006:G>A,55897006,NM_033109.4,NM_033109.4:c.976+1448C>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.768,0.0106,1KG_AFR_AF,PNPT1
436737,2:55897019:A>C,55897019,NM_033109.4,NM_033109.4:c.976+1435T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.268,\N,\N,PNPT1
436738,2:55897020:A>G,55897020,NM_033109.4,NM_033109.4:c.976+1434T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.857,\N,\N,PNPT1
436739,2:55897040:C>A,55897040,NM_033109.4,NM_033109.4:c.976+1414G>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.907,0.0008,1KG_AFR_AF,PNPT1
436740,2:55897047:C>G,55897047,NM_033109.4,NM_033109.4:c.976+1407G>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.046,0.001,1KG_EUR_AF,PNPT1
436741,2:55897067:T>C,55897067,NM_033109.4,NM_033109.4:c.976+1387A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.851,0.001,1KG_EAS_AF,PNPT1
436742,2:55897074:G>A,55897074,NM_033109.4,NM_033109.4:c.976+1380C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.306,\N,\N,PNPT1
436743,2:55897082:T>C,55897082,NM_033109.4,NM_033109.4:c.976+1372A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.598,0.001,1KG_EUR_AF,PNPT1
436744,2:55897106:C>A,55897106,NM_033109.4,NM_033109.4:c.976+1348G>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.738,0.0015,1KG_AFR_AF,PNPT1
436745,2:55897144:T>G,55897144,NM_033109.4,NM_033109.4:c.976+1310A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.523,0.0008,1KG_AFR_AF,PNPT1
436746,2:55897161:TG>T,55897161,NM_033109.4,NM_033109.4:c.976+1292del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436747,2:55897185:C>T,55897185,NM_033109.4,NM_033109.4:c.976+1269G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.11,\N,\N,PNPT1
436748,2:55897187:C>T,55897187,NM_033109.4,NM_033109.4:c.976+1267G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.203,0.0159,1KG_EAS_AF,PNPT1
436749,2:55897227:A>G,55897227,NM_033109.4,NM_033109.4:c.976+1227T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.406,0.0023,1KG_AFR_AF,PNPT1
436750,2:55897227:A>T,55897227,NM_033109.4,NM_033109.4:c.976+1227T>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.309,\N,\N,PNPT1
436751,2:55897230:A>G,55897230,NM_033109.4,NM_033109.4:c.976+1224T>C,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,11.81,0.0692,1KG_AMR_AF,PNPT1
436752,2:55897235:T>A,55897235,NM_033109.4,NM_033109.4:c.976+1219A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.6,0.0008,1KG_AFR_AF,PNPT1
436753,2:55897242:T>C,55897242,NM_033109.4,NM_033109.4:c.976+1212A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.577,0.0008,1KG_AFR_AF,PNPT1
436754,2:55897253:AC>A,55897253,NM_033109.4,NM_033109.4:c.976+1200del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.134,\N,\N,PNPT1
436755,2:55897268:T>C,55897268,NM_033109.4,NM_033109.4:c.976+1186A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.462,0.001,1KG_EAS_AF,PNPT1
436756,2:55897279:T>C,55897279,NM_033109.4,NM_033109.4:c.976+1175A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.284,\N,\N,PNPT1
436757,2:55897324:A>AT,55897324,NM_033109.4,NM_033109.4:c.976+1129dup,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,\N,0.0286,1KG_SAS_AF,PNPT1
436758,2:55897324:A>T,55897324,NM_033109.4,NM_033109.4:c.976+1130T>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.542,0.0031,1KG_SAS_AF,PNPT1
436759,2:55897358:G>A,55897358,NM_033109.4,NM_033109.4:c.976+1096C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.071,\N,\N,PNPT1
436760,2:55897382:C>T,55897382,NM_033109.4,NM_033109.4:c.976+1072G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.987,0.0023,1KG_AFR_AF,PNPT1
436761,2:55897385:G>A,55897385,NM_033109.4,NM_033109.4:c.976+1069C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.456,0.001,1KG_SAS_AF,PNPT1
436762,2:55897390:C>G,55897390,NM_033109.4,NM_033109.4:c.976+1064G>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.53,0.0008,1KG_AFR_AF,PNPT1
436763,2:55897390:C>T,55897390,NM_033109.4,NM_033109.4:c.976+1064G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.195,\N,\N,PNPT1
436764,2:55897396:G>A,55897396,NM_033109.4,NM_033109.4:c.976+1058C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.028,0.0045,1KG_AFR_AF,PNPT1
436765,2:55897398:T>A,55897398,NM_033109.4,NM_033109.4:c.976+1056A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.564,0.001,1KG_EUR_AF,PNPT1
436766,2:55897422:C>T,55897422,NM_033109.4,NM_033109.4:c.976+1032G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.125,0.0119,1KG_EUR_AF,PNPT1
436767,2:55897429:C>T,55897429,NM_033109.4,NM_033109.4:c.976+1025G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.2,0.001,1KG_EUR_AF,PNPT1
436768,2:55897442:C>A,55897442,NM_033109.4,NM_033109.4:c.976+1012G>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.313,0.006,1KG_EAS_AF,PNPT1
436769,2:55897476:C>T,55897476,NM_033109.4,NM_033109.4:c.976+978G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.591,\N,\N,PNPT1
436770,2:55897503:AGT>A,55897503,NM_033109.4,NM_033109.4:c.976+949_976+950del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.125,\N,\N,PNPT1
436771,2:55897505:T>C,55897505,NM_033109.4,NM_033109.4:c.976+949A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.645,\N,\N,PNPT1
436772,2:55897511:C>T,55897511,NM_033109.4,NM_033109.4:c.976+943G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.271,\N,\N,PNPT1
436773,2:55897523:G>A,55897523,NM_033109.4,NM_033109.4:c.976+931C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.615,0.001,1KG_EAS_AF,PNPT1
436774,2:55897527:T>G,55897527,NM_033109.4,NM_033109.4:c.976+927A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.172,\N,\N,PNPT1
436775,2:55897550:T>C,55897550,NM_033109.4,NM_033109.4:c.976+904A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.55,0.0014,1KG_AMR_AF,PNPT1
436776,2:55897556:C>T,55897556,NM_033109.4,NM_033109.4:c.976+898G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.188,0.0069,1KG_EAS_AF,PNPT1
436777,2:55897557:G>A,55897557,NM_033109.4,NM_033109.4:c.976+897C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.088,0.0008,1KG_AFR_AF,PNPT1
436778,2:55897565:T>C,55897565,NM_033109.4,NM_033109.4:c.976+889A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.542,0.975,1KG_AFR_AF,PNPT1
436779,2:55897572:C>T,55897572,NM_033109.4,NM_033109.4:c.976+882G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.353,\N,\N,PNPT1
436780,2:55897576:C>T,55897576,NM_033109.4,NM_033109.4:c.976+878G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.052,0.0265,1KG_AFR_AF,PNPT1
436781,2:55897577:G>A,55897577,NM_033109.4,NM_033109.4:c.976+877C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.234,0.001,1KG_EAS_AF,PNPT1
436782,2:55897600:C>T,55897600,NM_033109.4,NM_033109.4:c.976+854G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.244,0.0076,1KG_AFR_AF,PNPT1
436783,2:55897610:C>T,55897610,NM_033109.4,NM_033109.4:c.976+844G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.233,0.0038,1KG_AFR_AF,PNPT1
436784,2:55897611:G>A,55897611,NM_033109.4,NM_033109.4:c.976+843C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.778,0.001,1KG_EAS_AF,PNPT1
436785,2:55897612:C>T,55897612,NM_033109.4,NM_033109.4:c.976+842G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.233,0.001,1KG_SAS_AF,PNPT1
436786,2:55897620:C>T,55897620,NM_033109.4,NM_033109.4:c.976+834G>A,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.531,0.0144,1KG_AFR_AF,PNPT1
436787,2:55897629:A>C,55897629,NM_033109.4,NM_033109.4:c.976+825T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.667,0.001,1KG_EUR_AF,PNPT1
436788,2:55897672:T>C,55897672,NM_033109.4,NM_033109.4:c.976+782A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.123,0.002,1KG_EAS_AF,PNPT1
436789,2:55897688:T>G,55897688,NM_033109.4,NM_033109.4:c.976+766A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.837,0.0008,1KG_AFR_AF,PNPT1
436790,2:55897697:T>C,55897697,NM_033109.4,NM_033109.4:c.976+757A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.424,0.001,1KG_SAS_AF,PNPT1
436791,2:55897700:T>C,55897700,NM_033109.4,NM_033109.4:c.976+754A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.54,0.5746,1KG_EUR_AF,PNPT1
436792,2:55897738:T>C,55897738,NM_033109.4,NM_033109.4:c.976+716A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.958,\N,\N,PNPT1
436793,2:55897749:C>T,55897749,NM_033109.4,NM_033109.4:c.976+705G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.866,\N,\N,PNPT1
436794,2:55897750:G>T,55897750,NM_033109.4,NM_033109.4:c.976+704C>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.748,0.0029,1KG_AMR_AF,PNPT1
436795,2:55897809:T>C,55897809,NM_033109.4,NM_033109.4:c.976+645A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.944,\N,\N,PNPT1
436796,2:55897907:G>A,55897907,NM_033109.4,NM_033109.4:c.976+547C>T,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.38,0.0053,1KG_AFR_AF,PNPT1
436797,2:55897961:C>A,55897961,NM_033109.4,NM_033109.4:c.976+493G>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.983,\N,\N,PNPT1
436798,2:55897967:T>G,55897967,NM_033109.4,NM_033109.4:c.976+487A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.637,\N,\N,PNPT1
436799,2:55897972:CAA>C,55897972,NM_033109.4,NM_033109.4:c.976+480_976+481del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.051,\N,\N,PNPT1
436800,2:55897995:A>G,55897995,NM_033109.4,NM_033109.4:c.976+459T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.406,\N,\N,PNPT1
436801,2:55897996:T>C,55897996,NM_033109.4,NM_033109.4:c.976+458A>G,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.458,0.4049,1KG_SAS_AF,PNPT1
436802,2:55897997:A>G,55897997,NM_033109.4,NM_033109.4:c.976+457T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.359,\N,\N,PNPT1
436803,2:55898022:T>C,55898022,NM_033109.4,NM_033109.4:c.976+432A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.246,0.001,1KG_SAS_AF,PNPT1
436804,2:55898046:T>C,55898046,NM_033109.4,NM_033109.4:c.976+408A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.859,0.0014,1KG_AMR_AF,PNPT1
436805,2:55898050:A>G,55898050,NM_033109.4,NM_033109.4:c.976+404T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.426,0.001,1KG_EAS_AF,PNPT1
436806,2:55898074:G>A,55898074,NM_033109.4,NM_033109.4:c.976+380C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.713,0.002,1KG_SAS_AF,PNPT1
436807,2:55898078:C>T,55898078,NM_033109.4,NM_033109.4:c.976+376G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.136,\N,\N,PNPT1
436808,2:55898087:G>C,55898087,NM_033109.4,NM_033109.4:c.976+367C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.63,\N,\N,PNPT1
436809,2:55898105:TAA>T,55898105,NM_033109.4,NM_033109.4:c.976+347_976+348del,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.415,0.9554,1KG_AFR_AF,PNPT1
436810,2:55898105:TAAA>T,55898105,NM_033109.4,NM_033109.4:c.976+346_976+348del,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.29,0.0746,1KG_SAS_AF,PNPT1
436811,2:55898106:A>T,55898106,NM_033109.4,NM_033109.4:c.976+348T>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.104,\N,\N,PNPT1
436812,2:55898107:A>T,55898107,NM_033109.4,NM_033109.4:c.976+347T>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.045,\N,\N,PNPT1
436813,2:55898130:C>CT,55898130,NM_033109.4,NM_033109.4:c.976+323dup,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.611,0.1421,1KG_SAS_AF,PNPT1
436814,2:55898162:G>C,55898162,NM_033109.4,NM_033109.4:c.976+292C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.475,\N,\N,PNPT1
436815,2:55898170:G>A,55898170,NM_033109.4,NM_033109.4:c.976+284C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.871,0.001,1KG_SAS_AF,PNPT1
436816,2:55898197:T>C,55898197,NM_033109.4,NM_033109.4:c.976+257A>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.708,0.0023,1KG_AFR_AF,PNPT1
436817,2:55898201:C>T,55898201,NM_033109.4,NM_033109.4:c.976+253G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.802,0.001,1KG_EAS_AF,PNPT1
436818,2:55898202:G>A,55898202,NM_033109.4,NM_033109.4:c.976+252C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.844,\N,\N,PNPT1
436819,2:55898203:A>G,55898203,NM_033109.4,NM_033109.4:c.976+251T>C,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.165,0.5298,1KG_EUR_AF,PNPT1
436820,2:55898212:G>A,55898212,NM_033109.4,NM_033109.4:c.976+242C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.118,\N,\N,PNPT1
436821,2:55898241:G>A,55898241,NM_033109.4,NM_033109.4:c.976+213C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.113,\N,\N,PNPT1
436822,2:55898249:G>T,55898249,NM_033109.4,NM_033109.4:c.976+205C>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.486,0.001,1KG_SAS_AF,PNPT1
436823,2:55898259:A>C,55898259,NM_033109.4,NM_033109.4:c.976+195T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.78,0.0023,1KG_AFR_AF,PNPT1
436824,2:55898266:C>T,55898266,NM_033109.4,NM_033109.4:c.976+188G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.325,0.0031,1KG_SAS_AF,PNPT1
436825,2:55898280:C>A,55898280,NM_033109.4,NM_033109.4:c.976+174G>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.117,\N,\N,PNPT1
436826,2:55898290:C>G,55898290,NM_033109.4,NM_033109.4:c.976+164G>C,\N,\N,\N,11/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.53,0.5298,1KG_EUR_AF,PNPT1
436827,2:55898294:G>A,55898294,NM_033109.4,NM_033109.4:c.976+160C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.822,0.001,1KG_EAS_AF,PNPT1
436828,2:55898295:G>A,55898295,NM_033109.4,NM_033109.4:c.976+159C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.224,\N,\N,PNPT1
436829,2:55898319:T>G,55898319,NM_033109.4,NM_033109.4:c.976+135A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.496,\N,\N,PNPT1
436830,2:55898330:C>T,55898330,NM_033109.4,NM_033109.4:c.976+124G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.716,\N,\N,PNPT1
436831,2:55898344:G>A,55898344,NM_033109.4,NM_033109.4:c.976+110C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.42,\N,\N,PNPT1
436832,2:55898348:T>G,55898348,NM_033109.4,NM_033109.4:c.976+106A>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.059,0.001,1KG_EAS_AF,PNPT1
436833,2:55898376:C>T,55898376,NM_033109.4,NM_033109.4:c.976+78G>A,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.918,0.004,1KG_EAS_AF,PNPT1
436834,2:55898389:G>C,55898389,NM_033109.4,NM_033109.4:c.976+65C>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.056,0.001,1KG_EAS_AF,PNPT1
436835,2:55898412:T>A,55898412,NM_033109.4,NM_033109.4:c.976+42A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.212,\N,\N,PNPT1
436836,2:55898417:TC>T,55898417,NM_033109.4,NM_033109.4:c.976+36del,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.543,\N,\N,PNPT1
436837,2:55898420:G>A,55898420,NM_033109.4,NM_033109.4:c.976+34C>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.616,0.0000527704,EXAC_NFE_AF,PNPT1
436838,2:55898424:A>AAAAAT,55898424,NM_033109.4,NM_033109.4:c.976+25_976+29dup,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.091,\N,\N,PNPT1
436839,2:55898428:A>C,55898428,NM_033109.4,NM_033109.4:c.976+26T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.354,0.0000449156,EXAC_NFE_AF,PNPT1
436840,2:55898429:T>A,55898429,NM_033109.4,NM_033109.4:c.976+25A>T,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.497,0.0023,1KG_AFR_AF,PNPT1
436841,2:55898430:A>G,55898430,NM_033109.4,NM_033109.4:c.976+24T>C,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.255,0.000501002,EXAC_EAS_AF,PNPT1
436842,2:55898437:A>C,55898437,NM_033109.4,NM_033109.4:c.976+17T>G,\N,\N,\N,11/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.375,0.000117869,EVS_EA_AF,PNPT1
436843,2:55898450:T>A,55898450,NM_033109.4,NM_033109.4:c.976+4A>T,\N,\N,\N,11/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,11.42,0.000229885,EVS_AA_AF,PNPT1
436844,2:55898458:T>C,55898458,NM_033109.4,NM_033109.4:c.972A>G,NP_149100.2:p.Leu324=,324,11/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.901,0.001,1KG_EAS_AF,PNPT1
436845,2:55898467:C>A,55898467,NM_033109.4,NM_033109.4:c.963G>T,NP_149100.2:p.Glu321Asp,321,11/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,23.5,0.000128899,EXAC_AFR_AF,PNPT1
436846,2:55898468:T>G,55898468,NM_033109.4,NM_033109.4:c.962A>C,NP_149100.2:p.Glu321Ala,321,11/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,16.88,0.000125691,EXAC_EAS_AF,PNPT1
436847,2:55898470:C>T,55898470,NM_033109.4,NM_033109.4:c.960G>A,NP_149100.2:p.Thr320=,320,11/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,15.1,0.0013089,EXAC_OTH_AF,PNPT1
436848,2:55898471:G>A,55898471,NM_033109.4,NM_033109.4:c.959C>T,NP_149100.2:p.Thr320Met,320,11/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,22.4,0.000372763,EXAC_AFR_AF,PNPT1
436849,2:55898479:T>C,55898479,NM_033109.4,NM_033109.4:c.951A>G,NP_149100.2:p.Arg317=,317,11/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.363,0.000233209,EVS_EA_AF,PNPT1
436850,2:55898486:T>C,55898486,NM_033109.4,NM_033109.4:c.944A>G,NP_149100.2:p.Lys315Arg,315,11/28,\N,Benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,20.9,0.0189,1KG_AFR_AF,PNPT1
436851,2:55898497:T>G,55898497,NM_033109.4,NM_033109.4:c.933A>C,NP_149100.2:p.Glu311Asp,311,11/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,14.93,0.0000323258,EXAC_NFE_AF,PNPT1
436852,2:55898511:C>A,55898511,NM_033109.4,NM_033109.4:c.919G>T,NP_149100.2:p.Val307Phe,307,11/28,\N,Likely benign,\N,missense_variant&splice_region_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,17.74,0.000318431,EXAC_SAS_AF,PNPT1
436853,2:55898513:TAAAA>T,55898513,NM_033109.4,NM_033109.4:c.919-6_919-3del,\N,\N,\N,10/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,19.38,\N,\N,PNPT1
436854,2:55898519:A>G,55898519,NM_033109.4,NM_033109.4:c.919-8T>C,\N,\N,\N,10/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,12.26,\N,\N,PNPT1
436855,2:55898533:G>A,55898533,NM_033109.4,NM_033109.4:c.919-22C>T,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.85,0.000166279,EXAC_FIN_AF,PNPT1
436856,2:55898538:T>C,55898538,NM_033109.4,NM_033109.4:c.919-27A>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.399,0.000229253,EVS_AA_AF,PNPT1
436857,2:55898543:A>G,55898543,NM_033109.4,NM_033109.4:c.919-32T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.155,0.000819097,EXAC_AFR_AF,PNPT1
436858,2:55898549:G>T,55898549,NM_033109.4,NM_033109.4:c.919-38C>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.58,0.0000840675,EXAC_NFE_AF,PNPT1
436859,2:55898553:A>G,55898553,NM_033109.4,NM_033109.4:c.919-42T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.893,0.0001213,EXAC_EAS_AF,PNPT1
436860,2:55898610:G>C,55898610,NM_033109.4,NM_033109.4:c.919-99C>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.225,0.0014,1KG_AMR_AF,PNPT1
436861,2:55898615:C>T,55898615,NM_033109.4,NM_033109.4:c.919-104G>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.11,\N,\N,PNPT1
436862,2:55898631:A>C,55898631,NM_033109.4,NM_033109.4:c.919-120T>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.073,\N,\N,PNPT1
436863,2:55898656:T>C,55898656,NM_033109.4,NM_033109.4:c.919-145A>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.917,\N,\N,PNPT1
436864,2:55898660:A>G,55898660,NM_033109.4,NM_033109.4:c.919-149T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.362,\N,\N,PNPT1
436865,2:55898688:C>G,55898688,NM_033109.4,NM_033109.4:c.919-177G>C,\N,\N,\N,10/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.908,0.1247,1KG_SAS_AF,PNPT1
436866,2:55898712:A>G,55898712,NM_033109.4,NM_033109.4:c.919-201T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.824,0.001,1KG_SAS_AF,PNPT1
436867,2:55898733:T>C,55898733,NM_033109.4,NM_033109.4:c.919-222A>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.02,0.002,1KG_EAS_AF,PNPT1
436868,2:55898773:T>A,55898773,NM_033109.4,NM_033109.4:c.919-262A>T,\N,\N,\N,10/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.388,0.0121,1KG_AFR_AF,PNPT1
436869,2:55898797:C>T,55898797,NM_033109.4,NM_033109.4:c.919-286G>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.366,0.0023,1KG_AFR_AF,PNPT1
436870,2:55898807:A>G,55898807,NM_033109.4,NM_033109.4:c.919-296T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.225,0.0014,1KG_AMR_AF,PNPT1
436871,2:55898812:T>C,55898812,NM_033109.4,NM_033109.4:c.919-301A>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.553,0.004,1KG_EUR_AF,PNPT1
436872,2:55898821:T>G,55898821,NM_033109.4,NM_033109.4:c.918+309A>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.175,0.001,1KG_EAS_AF,PNPT1
436873,2:55898829:T>A,55898829,NM_033109.4,NM_033109.4:c.918+301A>T,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.671,\N,\N,PNPT1
436874,2:55898837:C>T,55898837,NM_033109.4,NM_033109.4:c.918+293G>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.406,0.001,1KG_EUR_AF,PNPT1
436875,2:55898893:C>T,55898893,NM_033109.4,NM_033109.4:c.918+237G>A,\N,\N,\N,10/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.993,0.0072,1KG_AMR_AF,PNPT1
436876,2:55898894:G>A,55898894,NM_033109.4,NM_033109.4:c.918+236C>T,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.768,0.0008,1KG_AFR_AF,PNPT1
436877,2:55898898:G>A,55898898,NM_033109.4,NM_033109.4:c.918+232C>T,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.647,\N,\N,PNPT1
436878,2:55898928:C>T,55898928,NM_033109.4,NM_033109.4:c.918+202G>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.087,0.001,1KG_EAS_AF,PNPT1
436879,2:55898929:A>G,55898929,NM_033109.4,NM_033109.4:c.918+201T>C,\N,\N,\N,10/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.037,0.9728,1KG_AFR_AF,PNPT1
436880,2:55898929:AC>GT,55898929,NM_033109.4,NM_033109.4:c.918+200_918+201inv,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436881,2:55898930:C>T,55898930,NM_033109.4,NM_033109.4:c.918+200G>A,\N,\N,\N,10/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.898,0.5249,1KG_EUR_AF,PNPT1
436882,2:55898940:C>T,55898940,NM_033109.4,NM_033109.4:c.918+190G>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.068,0.004,1KG_EAS_AF,PNPT1
436883,2:55898943:CAG>C,55898943,NM_033109.4,NM_033109.4:c.918+185_918+186del,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436884,2:55898962:A>G,55898962,NM_033109.4,NM_033109.4:c.918+168T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.662,\N,\N,PNPT1
436885,2:55898962:AAAAAC>A,55898962,NM_033109.4,NM_033109.4:c.918+163_918+167del,\N,\N,\N,10/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.036,0.0716,1KG_SAS_AF,PNPT1
436886,2:55898981:A>T,55898981,NM_033109.4,NM_033109.4:c.918+149T>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.455,\N,\N,PNPT1
436887,2:55899004:T>C,55899004,NM_033109.4,NM_033109.4:c.918+126A>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.461,0.001,1KG_EUR_AF,PNPT1
436888,2:55899025:AT>A,55899025,NM_033109.4,NM_033109.4:c.918+104del,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436889,2:55899066:C>T,55899066,NM_033109.4,NM_033109.4:c.918+64G>A,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.939,0.0023,1KG_AFR_AF,PNPT1
436890,2:55899079:A>G,55899079,NM_033109.4,NM_033109.4:c.918+51T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.426,0.000225428,EXAC_NFE_AF,PNPT1
436891,2:55899082:A>C,55899082,NM_033109.4,NM_033109.4:c.918+48T>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.968,0.0000300553,EXAC_NFE_AF,PNPT1
436892,2:55899083:A>G,55899083,NM_033109.4,NM_033109.4:c.918+47T>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.326,0.00023116,EXAC_EAS_AF,PNPT1
436893,2:55899084:T>A,55899084,NM_033109.4,NM_033109.4:c.918+46A>T,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.075,0.0000614402,EXAC_SAS_AF,PNPT1
436894,2:55899085:G>A,55899085,NM_033109.4,NM_033109.4:c.918+45C>T,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.033,0.0000864006,EXAC_AMR_AF,PNPT1
436895,2:55899092:T>C,55899092,NM_033109.4,NM_033109.4:c.918+38A>G,\N,\N,\N,10/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.032,0.0118021,EVS_AA_AF,PNPT1
436896,2:55899096:G>A,55899096,NM_033109.4,NM_033109.4:c.918+34C>T,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.517,0.0023,1KG_AFR_AF,PNPT1
436897,2:55899103:T>G,55899103,NM_033109.4,NM_033109.4:c.918+27A>C,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.228,0.0000611322,EXAC_SAS_AF,PNPT1
436898,2:55899108:G>C,55899108,NM_033109.4,NM_033109.4:c.918+22C>G,\N,\N,\N,10/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.354,0.000183083,EXAC_SAS_AF,PNPT1
436899,2:55899140:T>A,55899140,NM_033109.4,NM_033109.4:c.908A>T,NP_149100.2:p.Glu303Val,303,10/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,12.64,0.0000149997,EXAC_NFE_AF,PNPT1
436900,2:55899141:C>T,55899141,NM_033109.4,NM_033109.4:c.907G>A,NP_149100.2:p.Glu303Lys,303,10/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,17.41,0.001,1KG_EUR_AF,PNPT1
436901,2:55899142:G>A,55899142,NM_033109.4,NM_033109.4:c.906C>T,NP_149100.2:p.Tyr302=,302,10/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,1.315,0.0118021,EVS_AA_AF,PNPT1
436902,2:55899144:A>G,55899144,NM_033109.4,NM_033109.4:c.904T>C,NP_149100.2:p.Tyr302His,302,10/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,13.5,0.0014,1KG_AMR_AF,PNPT1
436903,2:55899144:A>T,55899144,NM_033109.4,NM_033109.4:c.904T>A,NP_149100.2:p.Tyr302Asn,302,10/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,17.27,0.0000863856,EXAC_AMR_AF,PNPT1
436904,2:55899148:T>C,55899148,NM_033109.4,NM_033109.4:c.900A>G,NP_149100.2:p.Thr300=,300,10/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.439,0.0000605987,EXAC_SAS_AF,PNPT1
436905,2:55899148:T>G,55899148,NM_033109.4,NM_033109.4:c.900A>C,NP_149100.2:p.Thr300=,300,10/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.253,\N,\N,PNPT1
436906,2:55899156:C>G,55899156,NM_033109.4,NM_033109.4:c.892G>C,NP_149100.2:p.Val298Leu,298,10/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,23.2,0.0008,1KG_AFR_AF,PNPT1
436907,2:55899157:T>C,55899157,NM_033109.4,NM_033109.4:c.891A>G,NP_149100.2:p.Ala297=,297,10/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.368,0.0000149975,EXAC_NFE_AF,PNPT1
436908,2:55899161:T>C,55899161,NM_033109.4,NM_033109.4:c.887A>G,NP_149100.2:p.Tyr296Cys,296,10/28,\N,Likely pathogenic,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,17.19,0.000907853,EVS_AA_AF,PNPT1
436909,2:55899163:G>C,55899163,NM_033109.4,NM_033109.4:c.885C>G,NP_149100.2:p.Leu295=,295,10/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.712,0.000226963,EVS_AA_AF,PNPT1
436910,2:55899165:G>C,55899165,NM_033109.4,NM_033109.4:c.883C>G,NP_149100.2:p.Leu295Val,295,10/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,15.95,0.0000606061,EXAC_SAS_AF,PNPT1
436911,2:55899174:T>C,55899174,NM_033109.4,NM_033109.4:c.874A>G,NP_149100.2:p.Met292Val,292,10/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,8.639,0.000291036,EXAC_AFR_AF,PNPT1
436912,2:55899179:A>T,55899179,NM_033109.4,NM_033109.4:c.869T>A,NP_149100.2:p.Leu290His,290,10/28,\N,Likely benign,\N,missense_variant&splice_region_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,12.05,0.000015006,EXAC_NFE_AF,PNPT1
436913,2:55899184:A>G,55899184,NM_033109.4,NM_033109.4:c.867-3T>C,\N,\N,\N,9/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,6.621,0.00011636,EVS_EA_AF,PNPT1
436914,2:55899190:G>C,55899190,NM_033109.4,NM_033109.4:c.867-9C>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.231,0.0000150083,EXAC_NFE_AF,PNPT1
436915,2:55899197:A>T,55899197,NM_033109.4,NM_033109.4:c.867-16T>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.07,0.0000450315,EXAC_NFE_AF,PNPT1
436916,2:55899202:T>C,55899202,NM_033109.4,NM_033109.4:c.867-21A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.84,0.000015011,EXAC_NFE_AF,PNPT1
436917,2:55899207:G>T,55899207,NM_033109.4,NM_033109.4:c.867-26C>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.2,0.000116387,EVS_EA_AF,PNPT1
436918,2:55899208:CATA>C,55899208,NM_033109.4,NM_033109.4:c.867-30_867-28del,\N,\N,\N,9/27,Benign,\N,intron_variant,MODIFIER,\N,\N,13.08,0.00543604,EXAC_EAS_AF,PNPT1
436919,2:55899209:A>G,55899209,NM_033109.4,NM_033109.4:c.867-28T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.29,0.00302389,EXAC_FIN_AF,PNPT1
436920,2:55899213:T>A,55899213,NM_033109.4,NM_033109.4:c.867-32A>T,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.525,0.0000150155,EXAC_NFE_AF,PNPT1
436921,2:55899213:T>C,55899213,NM_033109.4,NM_033109.4:c.867-32A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.788,0.0000150155,EXAC_NFE_AF,PNPT1
436922,2:55899215:A>G,55899215,NM_033109.4,NM_033109.4:c.867-34T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.77,0.0014,1KG_AMR_AF,PNPT1
436923,2:55899226:C>G,55899226,NM_033109.4,NM_033109.4:c.867-45G>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.24,0.0000612295,EXAC_SAS_AF,PNPT1
436924,2:55899228:A>T,55899228,NM_033109.4,NM_033109.4:c.867-47T>A,\N,\N,\N,9/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.47,0.975,1KG_AFR_AF,PNPT1
436925,2:55899231:G>A,55899231,NM_033109.4,NM_033109.4:c.867-50C>T,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.09,0.000227169,EVS_AA_AF,PNPT1
436926,2:55899231:G>C,55899231,NM_033109.4,NM_033109.4:c.867-50C>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.108,0.0000864454,EXAC_AMR_AF,PNPT1
436927,2:55899245:T>C,55899245,NM_033109.4,NM_033109.4:c.867-64A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.7,0.0014,1KG_AMR_AF,PNPT1
436928,2:55899261:A>G,55899261,NM_033109.4,NM_033109.4:c.867-80T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.69,0.0014,1KG_AMR_AF,PNPT1
436929,2:55899262:T>C,55899262,NM_033109.4,NM_033109.4:c.867-81A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.68,0.001,1KG_EUR_AF,PNPT1
436930,2:55899270:TAATC>T,55899270,NM_033109.4,NM_033109.4:c.867-93_867-90del,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.294,0.0029,1KG_AMR_AF,PNPT1
436931,2:55899292:A>G,55899292,NM_033109.4,NM_033109.4:c.867-111T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.639,0.0014,1KG_AMR_AF,PNPT1
436932,2:55899301:A>G,55899301,NM_033109.4,NM_033109.4:c.867-120T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.302,\N,\N,PNPT1
436933,2:55899307:T>C,55899307,NM_033109.4,NM_033109.4:c.867-126A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.706,\N,\N,PNPT1
436934,2:55899331:C>T,55899331,NM_033109.4,NM_033109.4:c.867-150G>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.751,\N,\N,PNPT1
436935,2:55899348:C>T,55899348,NM_033109.4,NM_033109.4:c.867-167G>A,\N,\N,\N,9/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.621,0.0051,1KG_SAS_AF,PNPT1
436936,2:55899392:G>T,55899392,NM_033109.4,NM_033109.4:c.867-211C>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.328,0.0045,1KG_AFR_AF,PNPT1
436937,2:55899425:T>C,55899425,NM_033109.4,NM_033109.4:c.867-244A>G,\N,\N,\N,9/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.686,0.5308,1KG_EUR_AF,PNPT1
436938,2:55899477:T>A,55899477,NM_033109.4,NM_033109.4:c.867-296A>T,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.47,\N,\N,PNPT1
436939,2:55899496:T>A,55899496,NM_033109.4,NM_033109.4:c.867-315A>T,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.073,\N,\N,PNPT1
436940,2:55899496:T>C,55899496,NM_033109.4,NM_033109.4:c.867-315A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.541,0.0014,1KG_AMR_AF,PNPT1
436941,2:55899525:G>T,55899525,NM_033109.4,NM_033109.4:c.867-344C>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.177,0.004,1KG_EAS_AF,PNPT1
436942,2:55899650:C>T,55899650,NM_033109.4,NM_033109.4:c.866+378G>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.202,\N,\N,PNPT1
436943,2:55899669:C>G,55899669,NM_033109.4,NM_033109.4:c.866+359G>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.7,0.0008,1KG_AFR_AF,PNPT1
436944,2:55899671:G>C,55899671,NM_033109.4,NM_033109.4:c.866+357C>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.569,0.001,1KG_EUR_AF,PNPT1
436945,2:55899687:T>C,55899687,NM_033109.4,NM_033109.4:c.866+341A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.509,\N,\N,PNPT1
436946,2:55899700:C>A,55899700,NM_033109.4,NM_033109.4:c.866+328G>T,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.516,\N,\N,PNPT1
436947,2:55899702:T>G,55899702,NM_033109.4,NM_033109.4:c.866+326A>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.626,\N,\N,PNPT1
436948,2:55899715:A>G,55899715,NM_033109.4,NM_033109.4:c.866+313T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.952,\N,\N,PNPT1
436949,2:55899728:G>C,55899728,NM_033109.4,NM_033109.4:c.866+300C>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.91,0.001,1KG_EUR_AF,PNPT1
436950,2:55899746:C>T,55899746,NM_033109.4,NM_033109.4:c.866+282G>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.703,\N,\N,PNPT1
436951,2:55899747:G>A,55899747,NM_033109.4,NM_033109.4:c.866+281C>T,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.004,0.001,1KG_EAS_AF,PNPT1
436952,2:55899764:A>G,55899764,NM_033109.4,NM_033109.4:c.866+264T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.707,\N,\N,PNPT1
436953,2:55899773:G>C,55899773,NM_033109.4,NM_033109.4:c.866+255C>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.915,0.001,1KG_SAS_AF,PNPT1
436954,2:55899796:T>C,55899796,NM_033109.4,NM_033109.4:c.866+232A>G,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.636,0.0041,1KG_SAS_AF,PNPT1
436955,2:55899865:CT>C,55899865,NM_033109.4,NM_033109.4:c.866+162del,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
436956,2:55899885:A>G,55899885,NM_033109.4,NM_033109.4:c.866+143T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.246,\N,\N,PNPT1
436957,2:55899899:G>T,55899899,NM_033109.4,NM_033109.4:c.866+129C>A,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.406,0.001,1KG_EUR_AF,PNPT1
436958,2:55899991:G>C,55899991,NM_033109.4,NM_033109.4:c.866+37C>G,\N,\N,\N,9/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.7,0.0068,1KG_AFR_AF,PNPT1
436959,2:55899992:A>G,55899992,NM_033109.4,NM_033109.4:c.866+36T>C,\N,\N,\N,9/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.294,\N,\N,PNPT1
436960,2:55900020:G>A,55900020,NM_033109.4,NM_033109.4:c.866+8C>T,\N,\N,\N,9/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.94,0.000116279,EVS_EA_AF,PNPT1
436961,2:55900028:TTATGAG>T,55900028,NM_033109.4,NM_033109.4:c.860_865del,NP_149100.2:p.Thr287_His288del,287-289,9/28,\N,Unknown significance,\N,inframe_deletion&splice_region_variant,MODERATE,\N,\N,22.5,\N,\N,PNPT1
436962,2:55900032:G>A,55900032,NM_033109.4,NM_033109.4:c.862C>T,NP_149100.2:p.His288Tyr,288,9/28,\N,Benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,11.22,0.00653531,EXAC_AFR_AF,PNPT1
436963,2:55900033:A>T,55900033,NM_033109.4,NM_033109.4:c.861T>A,NP_149100.2:p.Thr287=,287,9/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,1.72,0.0174,1KG_AFR_AF,PNPT1
436964,2:55900033:A>G,55900033,NM_033109.4,NM_033109.4:c.861T>C,NP_149100.2:p.Thr287=,287,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.391,0.0000152919,EXAC_NFE_AF,PNPT1
436965,2:55900034:G>A,55900034,NM_033109.4,NM_033109.4:c.860C>T,NP_149100.2:p.Thr287Ile,287,9/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,9.832,0.000115821,EXAC_EAS_AF,PNPT1
436966,2:55900042:C>G,55900042,NM_033109.4,NM_033109.4:c.852G>C,NP_149100.2:p.Val284=,284,9/28,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.74,0.00710829,EXAC_FIN_AF,PNPT1
436967,2:55900050:C>T,55900050,NM_033109.4,NM_033109.4:c.844G>A,NP_149100.2:p.Glu282Lys,282,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,23.7,0.000193611,EXAC_AFR_AF,PNPT1
436968,2:55900054:C>T,55900054,NM_033109.4,NM_033109.4:c.840G>A,NP_149100.2:p.Ser280=,280,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,15.83,0.0008,1KG_AFR_AF,PNPT1
436969,2:55900055:G>A,55900055,NM_033109.4,NM_033109.4:c.839C>T,NP_149100.2:p.Ser280Leu,280,9/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,14.68,0.001,1KG_EUR_AF,PNPT1
436970,2:55900057:A>G,55900057,NM_033109.4,NM_033109.4:c.837T>C,NP_149100.2:p.Pro279=,279,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.097,\N,\N,PNPT1
436971,2:55900059:G>T,55900059,NM_033109.4,NM_033109.4:c.835C>A,NP_149100.2:p.Pro279Thr,279,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,11.41,0.000226963,EVS_AA_AF,PNPT1
436972,2:55900060:G>A,55900060,NM_033109.4,NM_033109.4:c.834C>T,NP_149100.2:p.Thr278=,278,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.892,0.0000966184,EXAC_AFR_AF,PNPT1
436973,2:55900061:G>C,55900061,NM_033109.4,NM_033109.4:c.833C>G,NP_149100.2:p.Thr278Ser,278,9/28,\N,Likely benign,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,0.49,0.001,1KG_EAS_AF,PNPT1
436974,2:55900065:A>G,55900065,NM_033109.4,NM_033109.4:c.829T>C,NP_149100.2:p.Phe277Leu,277,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,20.4,0.000015039,EXAC_NFE_AF,PNPT1
436975,2:55900066:T>C,55900066,NM_033109.4,NM_033109.4:c.828A>G,NP_149100.2:p.Leu276=,276,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.938,\N,\N,PNPT1
436976,2:55900080:T>A,55900080,NM_033109.4,NM_033109.4:c.814A>T,NP_149100.2:p.Thr272Ser,272,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,15.74,0.000115554,EXAC_EAS_AF,PNPT1
436977,2:55900089:T>C,55900089,NM_033109.4,NM_033109.4:c.805A>G,NP_149100.2:p.Thr269Ala,269,9/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;Polyribonucleotide nucleotidyltransferase| RNA-binding domain,\N,9.289,0.0000864006,EXAC_AMR_AF,PNPT1
436978,2:55900105:T>C,55900105,NM_033109.4,NM_033109.4:c.789A>G,NP_149100.2:p.Val263=,263,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.037,0.00485325,EXAC_EAS_AF,PNPT1
436979,2:55900110:A>G,55900110,NM_033109.4,NM_033109.4:c.784T>C,NP_149100.2:p.Leu262=,262,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.28,0.0000149952,EXAC_NFE_AF,PNPT1
436980,2:55900111:C>A,55900111,NM_033109.4,NM_033109.4:c.783G>T,NP_149100.2:p.Gln261His,261,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,19.67,\N,\N,PNPT1
436981,2:55900117:A>G,55900117,NM_033109.4,NM_033109.4:c.777T>C,NP_149100.2:p.Ile259=,259,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.33,0.0000149952,EXAC_NFE_AF,PNPT1
436982,2:55900120:G>A,55900120,NM_033109.4,NM_033109.4:c.774C>T,NP_149100.2:p.Gly258=,258,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,14.11,0.0000149952,EXAC_NFE_AF,PNPT1
436983,2:55900132:T>C,55900132,NM_033109.4,NM_033109.4:c.762A>G,NP_149100.2:p.Gln254=,254,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.307,0.0000606061,EXAC_SAS_AF,PNPT1
436984,2:55900134:G>A,55900134,NM_033109.4,NM_033109.4:c.760C>T,NP_149100.2:p.Gln254Ter,254,9/28,\N,Unknown significance,\N,stop_gained,HIGH,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,39,0.00019279,EXAC_AFR_AF,PNPT1
436985,2:55900138:G>A,55900138,NM_033109.4,NM_033109.4:c.756C>T,NP_149100.2:p.Thr252=,252,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.55,0.0000606281,EXAC_SAS_AF,PNPT1
436986,2:55900141:A>G,55900141,NM_033109.4,NM_033109.4:c.753T>C,NP_149100.2:p.Tyr251=,251,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.169,0.0000606281,EXAC_SAS_AF,PNPT1
436987,2:55900142:T>C,55900142,NM_033109.4,NM_033109.4:c.752A>G,NP_149100.2:p.Tyr251Cys,251,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,26.8,0.0000150015,EXAC_NFE_AF,PNPT1
436988,2:55900143:A>T,55900143,NM_033109.4,NM_033109.4:c.751T>A,NP_149100.2:p.Tyr251Asn,251,9/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,14,0.0000300048,EXAC_NFE_AF,PNPT1
436989,2:55900147:C>A,55900147,NM_033109.4,NM_033109.4:c.747G>T,NP_149100.2:p.Val249=,249,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,15.91,0.001,1KG_SAS_AF,PNPT1
436990,2:55900149:C>T,55900149,NM_033109.4,NM_033109.4:c.745G>A,NP_149100.2:p.Val249Met,249,9/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,20.5,0.000105055,EXAC_NFE_AF,PNPT1
436991,2:55900154:A>G,55900154,NM_033109.4,NM_033109.4:c.740T>C,NP_149100.2:p.Val247Ala,247,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,20.4,0.0000150123,EXAC_NFE_AF,PNPT1
436992,2:55900155:C>A,55900155,NM_033109.4,NM_033109.4:c.739G>T,NP_149100.2:p.Val247Leu,247,9/28,\N,Benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,14.23,0.0072,1KG_SAS_AF,PNPT1
436993,2:55900155:C>G,55900155,NM_033109.4,NM_033109.4:c.739G>C,NP_149100.2:p.Val247Leu,247,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,12.75,0.0000607386,EXAC_SAS_AF,PNPT1
436994,2:55900160:A>G,55900160,NM_033109.4,NM_033109.4:c.734T>C,NP_149100.2:p.Ile245Thr,245,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,27.2,0.0000608347,EXAC_SAS_AF,PNPT1
436995,2:55900178:T>C,55900178,NM_033109.4,NM_033109.4:c.716A>G,NP_149100.2:p.Gln239Arg,239,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,24.7,0.0000150562,EXAC_NFE_AF,PNPT1
436996,2:55900178:T>G,55900178,NM_033109.4,NM_033109.4:c.716A>C,NP_149100.2:p.Gln239Pro,239,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,21.9,0.0000611396,EXAC_SAS_AF,PNPT1
436997,2:55900190:T>G,55900190,NM_033109.4,NM_033109.4:c.704A>C,NP_149100.2:p.Asn235Thr,235,9/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,22.1,0.0000150843,EXAC_NFE_AF,PNPT1
436998,2:55900195:T>C,55900195,NM_033109.4,NM_033109.4:c.699A>G,NP_149100.2:p.Ala233=,233,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.68,0.000123609,EXAC_SAS_AF,PNPT1
436999,2:55900198:A>G,55900198,NM_033109.4,NM_033109.4:c.696T>C,NP_149100.2:p.Ser232=,232,9/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.16,0.0000991277,EXAC_AFR_AF,PNPT1
437000,2:55900206:C>G,55900206,NM_033109.4,NM_033109.4:c.688G>C,NP_149100.2:p.Glu230Gln,230,9/28,\N,Benign*,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,30,0.0068,1KG_AFR_AF,PNPT1
437001,2:55900217:A>G,55900217,NM_033109.4,NM_033109.4:c.680-3T>C,\N,\N,\N,8/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,10.06,0.000117096,EXAC_EAS_AF,PNPT1
437002,2:55900225:GAA>G,55900225,NM_033109.4,NM_033109.4:c.680-13_680-12del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.381,0.0000156289,EXAC_NFE_AF,PNPT1
437003,2:55900231:G>A,55900231,NM_033109.4,NM_033109.4:c.680-17C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.365,0.000139198,EXAC_AFR_AF,PNPT1
437004,2:55900231:G>GA,55900231,NM_033109.4,NM_033109.4:c.680-18dup,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.281,0.193324,EXAC_SAS_AF,PNPT1
437005,2:55900231:G>GAA,55900231,NM_033109.4,NM_033109.4:c.680-19_680-18dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.177,0.000831947,EXAC_SAS_AF,PNPT1
437006,2:55900231:GA>G,55900231,NM_033109.4,NM_033109.4:c.680-18del,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.202,0.0108073,EXAC_NFE_AF,PNPT1
437007,2:55900241:ATGAC>A,55900241,NM_033109.4,NM_033109.4:c.680-31_680-28del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.637,0.000108909,EXAC_AFR_AF,PNPT1
437008,2:55900243:G>T,55900243,NM_033109.4,NM_033109.4:c.680-29C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.568,0.000115538,EXAC_NFE_AF,PNPT1
437009,2:55900250:A>G,55900250,NM_033109.4,NM_033109.4:c.680-36T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.562,0.0000166828,EXAC_NFE_AF,PNPT1
437010,2:55900252:C>T,55900252,NM_033109.4,NM_033109.4:c.680-38G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.261,0.000384714,EXAC_EAS_AF,PNPT1
437011,2:55900263:G>C,55900263,NM_033109.4,NM_033109.4:c.680-49C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.842,\N,\N,PNPT1
437012,2:55900283:A>G,55900283,NM_033109.4,NM_033109.4:c.680-69T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.779,0.5318,1KG_EUR_AF,PNPT1
437013,2:55900301:T>C,55900301,NM_033109.4,NM_033109.4:c.680-87A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.306,0.0008,1KG_AFR_AF,PNPT1
437014,2:55900303:T>C,55900303,NM_033109.4,NM_033109.4:c.680-89A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.971,\N,\N,PNPT1
437015,2:55900326:G>C,55900326,NM_033109.4,NM_033109.4:c.680-112C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.25,0.0008,1KG_AFR_AF,PNPT1
437016,2:55900328:G>A,55900328,NM_033109.4,NM_033109.4:c.680-114C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.332,\N,\N,PNPT1
437017,2:55900330:T>C,55900330,NM_033109.4,NM_033109.4:c.680-116A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.278,0.0014,1KG_AMR_AF,PNPT1
437018,2:55900365:T>C,55900365,NM_033109.4,NM_033109.4:c.680-151A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.99,0.001,1KG_EAS_AF,PNPT1
437019,2:55900381:G>C,55900381,NM_033109.4,NM_033109.4:c.680-167C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.338,\N,\N,PNPT1
437020,2:55900392:T>C,55900392,NM_033109.4,NM_033109.4:c.680-178A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.915,\N,\N,PNPT1
437021,2:55900395:A>C,55900395,NM_033109.4,NM_033109.4:c.680-181T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.215,\N,\N,PNPT1
437022,2:55900412:T>C,55900412,NM_033109.4,NM_033109.4:c.680-198A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.381,0.0014,1KG_AMR_AF,PNPT1
437023,2:55900415:G>A,55900415,NM_033109.4,NM_033109.4:c.680-201C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.736,0.0014,1KG_AMR_AF,PNPT1
437024,2:55900440:G>A,55900440,NM_033109.4,NM_033109.4:c.680-226C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.292,\N,\N,PNPT1
437025,2:55900459:A>G,55900459,NM_033109.4,NM_033109.4:c.680-245T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.564,0.5318,1KG_EUR_AF,PNPT1
437026,2:55900460:T>C,55900460,NM_033109.4,NM_033109.4:c.680-246A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.826,0.001,1KG_SAS_AF,PNPT1
437027,2:55900472:C>T,55900472,NM_033109.4,NM_033109.4:c.680-258G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.348,\N,\N,PNPT1
437028,2:55900484:A>G,55900484,NM_033109.4,NM_033109.4:c.680-270T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.057,\N,\N,PNPT1
437029,2:55900490:C>G,55900490,NM_033109.4,NM_033109.4:c.680-276G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.064,0.0014,1KG_AMR_AF,PNPT1
437030,2:55900535:T>A,55900535,NM_033109.4,NM_033109.4:c.680-321A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.064,\N,\N,PNPT1
437031,2:55900560:G>A,55900560,NM_033109.4,NM_033109.4:c.680-346C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.43,0.1421,1KG_SAS_AF,PNPT1
437032,2:55900628:C>T,55900628,NM_033109.4,NM_033109.4:c.680-414G>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.188,0.0716,1KG_SAS_AF,PNPT1
437033,2:55900644:C>T,55900644,NM_033109.4,NM_033109.4:c.680-430G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.929,\N,\N,PNPT1
437034,2:55900645:G>A,55900645,NM_033109.4,NM_033109.4:c.680-431C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.094,0.001,1KG_SAS_AF,PNPT1
437035,2:55900652:C>T,55900652,NM_033109.4,NM_033109.4:c.680-438G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.636,0.0023,1KG_AFR_AF,PNPT1
437036,2:55900653:G>A,55900653,NM_033109.4,NM_033109.4:c.680-439C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.446,0.0014,1KG_AMR_AF,PNPT1
437037,2:55900660:T>C,55900660,NM_033109.4,NM_033109.4:c.680-446A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.518,0.001,1KG_EAS_AF,PNPT1
437038,2:55900689:T>C,55900689,NM_033109.4,NM_033109.4:c.680-475A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.75,\N,\N,PNPT1
437039,2:55900784:T>C,55900784,NM_033109.4,NM_033109.4:c.680-570A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.075,0.001,1KG_EAS_AF,PNPT1
437040,2:55900799:G>A,55900799,NM_033109.4,NM_033109.4:c.680-585C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.627,0.0023,1KG_AFR_AF,PNPT1
437041,2:55900842:C>CA,55900842,NM_033109.4,NM_033109.4:c.680-629dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437042,2:55900846:G>A,55900846,NM_033109.4,NM_033109.4:c.680-632C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.878,\N,\N,PNPT1
437043,2:55900850:T>C,55900850,NM_033109.4,NM_033109.4:c.680-636A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.476,0.0014,1KG_AMR_AF,PNPT1
437044,2:55900877:G>A,55900877,NM_033109.4,NM_033109.4:c.680-663C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.702,0.0008,1KG_AFR_AF,PNPT1
437045,2:55900878:G>A,55900878,NM_033109.4,NM_033109.4:c.680-664C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.526,0.001,1KG_SAS_AF,PNPT1
437046,2:55900907:T>C,55900907,NM_033109.4,NM_033109.4:c.680-693A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.873,0.0041,1KG_SAS_AF,PNPT1
437047,2:55900914:C>A,55900914,NM_033109.4,NM_033109.4:c.680-700G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.534,0.001,1KG_SAS_AF,PNPT1
437048,2:55900929:G>A,55900929,NM_033109.4,NM_033109.4:c.680-715C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.317,\N,\N,PNPT1
437049,2:55900934:T>C,55900934,NM_033109.4,NM_033109.4:c.680-720A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.115,0.0015,1KG_AFR_AF,PNPT1
437050,2:55900938:A>C,55900938,NM_033109.4,NM_033109.4:c.680-724T>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.097,0.9735,1KG_AFR_AF,PNPT1
437051,2:55901003:G>A,55901003,NM_033109.4,NM_033109.4:c.680-789C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.404,0.001,1KG_EUR_AF,PNPT1
437052,2:55901014:C>T,55901014,NM_033109.4,NM_033109.4:c.680-800G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.068,0.0008,1KG_AFR_AF,PNPT1
437053,2:55901023:A>T,55901023,NM_033109.4,NM_033109.4:c.680-809T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.37,\N,\N,PNPT1
437054,2:55901046:C>T,55901046,NM_033109.4,NM_033109.4:c.680-832G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.527,0.0014,1KG_AMR_AF,PNPT1
437055,2:55901049:G>A,55901049,NM_033109.4,NM_033109.4:c.680-835C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.805,0.001,1KG_EUR_AF,PNPT1
437056,2:55901064:C>T,55901064,NM_033109.4,NM_033109.4:c.680-850G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.882,\N,\N,PNPT1
437057,2:55901078:G>A,55901078,NM_033109.4,NM_033109.4:c.680-864C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.517,0.0091,1KG_AFR_AF,PNPT1
437058,2:55901080:A>C,55901080,NM_033109.4,NM_033109.4:c.680-866T>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.878,0.0113,1KG_AFR_AF,PNPT1
437059,2:55901082:T>C,55901082,NM_033109.4,NM_033109.4:c.680-868A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.908,0.0014,1KG_AMR_AF,PNPT1
437060,2:55901120:A>G,55901120,NM_033109.4,NM_033109.4:c.680-906T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.199,0.0008,1KG_AFR_AF,PNPT1
437061,2:55901133:C>G,55901133,NM_033109.4,NM_033109.4:c.680-919G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.266,\N,\N,PNPT1
437062,2:55901140:G>C,55901140,NM_033109.4,NM_033109.4:c.680-926C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.515,\N,\N,PNPT1
437063,2:55901149:C>T,55901149,NM_033109.4,NM_033109.4:c.680-935G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.474,0.0023,1KG_AFR_AF,PNPT1
437064,2:55901219:T>C,55901219,NM_033109.4,NM_033109.4:c.680-1005A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.279,\N,\N,PNPT1
437065,2:55901317:T>C,55901317,NM_033109.4,NM_033109.4:c.680-1103A>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.52,0.9735,1KG_AFR_AF,PNPT1
437066,2:55901321:AT>A,55901321,NM_033109.4,NM_033109.4:c.680-1108del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.511,0.003,1KG_EAS_AF,PNPT1
437067,2:55901327:T>C,55901327,NM_033109.4,NM_033109.4:c.680-1113A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.6,0.0014,1KG_AMR_AF,PNPT1
437068,2:55901343:T>C,55901343,NM_033109.4,NM_033109.4:c.680-1129A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.03,0.001,1KG_SAS_AF,PNPT1
437069,2:55901392:C>T,55901392,NM_033109.4,NM_033109.4:c.680-1178G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.299,0.0014,1KG_AMR_AF,PNPT1
437070,2:55901393:G>A,55901393,NM_033109.4,NM_033109.4:c.680-1179C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.139,0.0023,1KG_AFR_AF,PNPT1
437071,2:55901402:TAGAA>T,55901402,NM_033109.4,NM_033109.4:c.680-1192_680-1189del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.41,0.0023,1KG_AFR_AF,PNPT1
437072,2:55901408:G>A,55901408,NM_033109.4,NM_033109.4:c.680-1194C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.96,0.001,1KG_EAS_AF,PNPT1
437073,2:55901452:A>G,55901452,NM_033109.4,NM_033109.4:c.680-1238T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.211,0.9758,1KG_AFR_AF,PNPT1
437074,2:55901455:G>A,55901455,NM_033109.4,NM_033109.4:c.680-1241C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.34,\N,\N,PNPT1
437075,2:55901466:C>T,55901466,NM_033109.4,NM_033109.4:c.680-1252G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.793,0.001,1KG_SAS_AF,PNPT1
437076,2:55901471:G>A,55901471,NM_033109.4,NM_033109.4:c.680-1257C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.387,\N,\N,PNPT1
437077,2:55901490:A>C,55901490,NM_033109.4,NM_033109.4:c.680-1276T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.502,0.0043,1KG_AMR_AF,PNPT1
437078,2:55901540:C>T,55901540,NM_033109.4,NM_033109.4:c.680-1326G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.305,0.0014,1KG_AMR_AF,PNPT1
437079,2:55901557:G>C,55901557,NM_033109.4,NM_033109.4:c.680-1343C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.323,\N,\N,PNPT1
437080,2:55901562:T>C,55901562,NM_033109.4,NM_033109.4:c.680-1348A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.95,0.001,1KG_EAS_AF,PNPT1
437081,2:55901564:T>C,55901564,NM_033109.4,NM_033109.4:c.680-1350A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.13,0.001,1KG_EUR_AF,PNPT1
437082,2:55901576:G>T,55901576,NM_033109.4,NM_033109.4:c.680-1362C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.082,0.0014,1KG_AMR_AF,PNPT1
437083,2:55901632:G>A,55901632,NM_033109.4,NM_033109.4:c.680-1418C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.15,0.001,1KG_SAS_AF,PNPT1
437084,2:55901644:C>T,55901644,NM_033109.4,NM_033109.4:c.680-1430G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.092,0.0023,1KG_AFR_AF,PNPT1
437085,2:55901652:C>G,55901652,NM_033109.4,NM_033109.4:c.680-1438G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.094,\N,\N,PNPT1
437086,2:55901657:GGTGGAGGTTGCA>G,55901657,NM_033109.4,NM_033109.4:c.680-1455_680-1444del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437087,2:55901674:G>C,55901674,NM_033109.4,NM_033109.4:c.680-1460C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.338,0.0023,1KG_AFR_AF,PNPT1
437088,2:55901684:C>G,55901684,NM_033109.4,NM_033109.4:c.680-1470G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.026,\N,\N,PNPT1
437089,2:55901699:GC>G,55901699,NM_033109.4,NM_033109.4:c.680-1486del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437090,2:55901734:A>C,55901734,NM_033109.4,NM_033109.4:c.680-1520T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.361,0.0014,1KG_AMR_AF,PNPT1
437091,2:55901735:T>A,55901735,NM_033109.4,NM_033109.4:c.680-1521A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.018,0.0023,1KG_AFR_AF,PNPT1
437092,2:55901777:G>A,55901777,NM_033109.4,NM_033109.4:c.680-1563C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.34,\N,\N,PNPT1
437093,2:55901830:G>C,55901830,NM_033109.4,NM_033109.4:c.680-1616C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.329,0.001,1KG_EAS_AF,PNPT1
437094,2:55901869:G>A,55901869,NM_033109.4,NM_033109.4:c.680-1655C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.425,0.0008,1KG_AFR_AF,PNPT1
437095,2:55901887:T>C,55901887,NM_033109.4,NM_033109.4:c.680-1673A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.919,\N,\N,PNPT1
437096,2:55901965:C>T,55901965,NM_033109.4,NM_033109.4:c.680-1751G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.68,\N,\N,PNPT1
437097,2:55901967:A>G,55901967,NM_033109.4,NM_033109.4:c.680-1753T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.199,\N,\N,PNPT1
437098,2:55901998:A>C,55901998,NM_033109.4,NM_033109.4:c.680-1784T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.823,\N,\N,PNPT1
437099,2:55902015:A>G,55902015,NM_033109.4,NM_033109.4:c.680-1801T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.602,\N,\N,PNPT1
437100,2:55902029:A>G,55902029,NM_033109.4,NM_033109.4:c.680-1815T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.295,0.0008,1KG_AFR_AF,PNPT1
437101,2:55902041:C>T,55902041,NM_033109.4,NM_033109.4:c.680-1827G>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.02,0.0076,1KG_AFR_AF,PNPT1
437102,2:55902042:G>A,55902042,NM_033109.4,NM_033109.4:c.680-1828C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.307,\N,\N,PNPT1
437103,2:55902042:G>C,55902042,NM_033109.4,NM_033109.4:c.680-1828C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.059,0.0014,1KG_AMR_AF,PNPT1
437104,2:55902043:G>A,55902043,NM_033109.4,NM_033109.4:c.680-1829C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.805,0.0041,1KG_SAS_AF,PNPT1
437105,2:55902064:A>C,55902064,NM_033109.4,NM_033109.4:c.680-1850T>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.001,0.1421,1KG_SAS_AF,PNPT1
437106,2:55902073:A>G,55902073,NM_033109.4,NM_033109.4:c.680-1859T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.577,0.001,1KG_SAS_AF,PNPT1
437107,2:55902122:G>T,55902122,NM_033109.4,NM_033109.4:c.680-1908C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.047,\N,\N,PNPT1
437108,2:55902190:G>T,55902190,NM_033109.4,NM_033109.4:c.680-1976C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.885,\N,\N,PNPT1
437109,2:55902229:C>G,55902229,NM_033109.4,NM_033109.4:c.680-2015G>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.69,0.0129,1KG_EUR_AF,PNPT1
437110,2:55902231:A>G,55902231,NM_033109.4,NM_033109.4:c.680-2017T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.625,0.001,1KG_EUR_AF,PNPT1
437111,2:55902237:A>G,55902237,NM_033109.4,NM_033109.4:c.680-2023T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.22,0.0149,1KG_EUR_AF,PNPT1
437112,2:55902238:TAAC>T,55902238,NM_033109.4,NM_033109.4:c.680-2027_680-2025del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437113,2:55902251:A>G,55902251,NM_033109.4,NM_033109.4:c.680-2037T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.177,\N,\N,PNPT1
437114,2:55902310:G>A,55902310,NM_033109.4,NM_033109.4:c.680-2096C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.986,\N,\N,PNPT1
437115,2:55902322:G>C,55902322,NM_033109.4,NM_033109.4:c.680-2108C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.102,0.0008,1KG_AFR_AF,PNPT1
437116,2:55902343:G>C,55902343,NM_033109.4,NM_033109.4:c.680-2129C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.402,0.0015,1KG_AFR_AF,PNPT1
437117,2:55902358:T>C,55902358,NM_033109.4,NM_033109.4:c.680-2144A>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.646,0.2629,1KG_EAS_AF,PNPT1
437118,2:55902369:C>A,55902369,NM_033109.4,NM_033109.4:c.680-2155G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.8,0.0038,1KG_AFR_AF,PNPT1
437119,2:55902395:T>C,55902395,NM_033109.4,NM_033109.4:c.680-2181A>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.563,0.975,1KG_AFR_AF,PNPT1
437120,2:55902416:A>G,55902416,NM_033109.4,NM_033109.4:c.680-2202T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.987,0.9728,1KG_AFR_AF,PNPT1
437121,2:55902424:CA>C,55902424,NM_033109.4,NM_033109.4:c.680-2211del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.285,\N,\N,PNPT1
437122,2:55902438:A>T,55902438,NM_033109.4,NM_033109.4:c.680-2224T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.254,\N,\N,PNPT1
437123,2:55902439:T>A,55902439,NM_033109.4,NM_033109.4:c.680-2225A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.405,\N,\N,PNPT1
437124,2:55902455:G>A,55902455,NM_033109.4,NM_033109.4:c.680-2241C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.775,0.0014,1KG_AMR_AF,PNPT1
437125,2:55902474:G>C,55902474,NM_033109.4,NM_033109.4:c.680-2260C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.411,\N,\N,PNPT1
437126,2:55902490:G>A,55902490,NM_033109.4,NM_033109.4:c.680-2276C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.568,0.0008,1KG_AFR_AF,PNPT1
437127,2:55902495:G>C,55902495,NM_033109.4,NM_033109.4:c.680-2281C>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.42,0.0106,1KG_AFR_AF,PNPT1
437128,2:55902514:G>A,55902514,NM_033109.4,NM_033109.4:c.680-2300C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.063,0.0208,1KG_EAS_AF,PNPT1
437129,2:55902515:G>A,55902515,NM_033109.4,NM_033109.4:c.680-2301C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.081,0.0015,1KG_AFR_AF,PNPT1
437130,2:55902522:G>C,55902522,NM_033109.4,NM_033109.4:c.680-2308C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.485,0.0014,1KG_AMR_AF,PNPT1
437131,2:55902528:G>A,55902528,NM_033109.4,NM_033109.4:c.680-2314C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.877,\N,\N,PNPT1
437132,2:55902542:T>C,55902542,NM_033109.4,NM_033109.4:c.680-2328A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.84,\N,\N,PNPT1
437133,2:55902544:C>T,55902544,NM_033109.4,NM_033109.4:c.680-2330G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.855,0.0023,1KG_AFR_AF,PNPT1
437134,2:55902546:A>G,55902546,NM_033109.4,NM_033109.4:c.680-2332T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.112,0.0014,1KG_AMR_AF,PNPT1
437135,2:55902588:G>T,55902588,NM_033109.4,NM_033109.4:c.680-2374C>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.149,0.0076,1KG_AFR_AF,PNPT1
437136,2:55902590:C>T,55902590,NM_033109.4,NM_033109.4:c.680-2376G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.271,0.0008,1KG_AFR_AF,PNPT1
437137,2:55902678:A>G,55902678,NM_033109.4,NM_033109.4:c.680-2464T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.817,\N,\N,PNPT1
437138,2:55902697:G>C,55902697,NM_033109.4,NM_033109.4:c.680-2483C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.401,\N,\N,PNPT1
437139,2:55902709:T>G,55902709,NM_033109.4,NM_033109.4:c.680-2495A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.592,\N,\N,PNPT1
437140,2:55902727:G>A,55902727,NM_033109.4,NM_033109.4:c.680-2513C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.593,0.001,1KG_SAS_AF,PNPT1
437141,2:55902740:A>G,55902740,NM_033109.4,NM_033109.4:c.680-2526T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.624,\N,\N,PNPT1
437142,2:55902743:G>A,55902743,NM_033109.4,NM_033109.4:c.680-2529C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.639,0.001,1KG_SAS_AF,PNPT1
437143,2:55902746:T>C,55902746,NM_033109.4,NM_033109.4:c.680-2532A>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.225,0.0527,1KG_EUR_AF,PNPT1
437144,2:55902760:C>T,55902760,NM_033109.4,NM_033109.4:c.680-2546G>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.637,0.0068,1KG_AFR_AF,PNPT1
437145,2:55902765:T>C,55902765,NM_033109.4,NM_033109.4:c.680-2551A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.265,\N,\N,PNPT1
437146,2:55902772:G>A,55902772,NM_033109.4,NM_033109.4:c.680-2558C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.582,0.001,1KG_EAS_AF,PNPT1
437147,2:55902780:G>A,55902780,NM_033109.4,NM_033109.4:c.680-2566C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.113,0.001,1KG_EAS_AF,PNPT1
437148,2:55902796:G>A,55902796,NM_033109.4,NM_033109.4:c.680-2582C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.54,0.975,1KG_AFR_AF,PNPT1
437149,2:55902833:A>AAAAG,55902833,NM_033109.4,NM_033109.4:c.680-2623_680-2620dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437150,2:55902833:AAAAG>A,55902833,NM_033109.4,NM_033109.4:c.680-2623_680-2620del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.318,\N,\N,PNPT1
437151,2:55902868:T>C,55902868,NM_033109.4,NM_033109.4:c.680-2654A>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.641,0.0454,1KG_AFR_AF,PNPT1
437152,2:55902881:G>A,55902881,NM_033109.4,NM_033109.4:c.680-2667C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.825,\N,\N,PNPT1
437153,2:55902899:GTAACTAC>G,55902899,NM_033109.4,NM_033109.4:c.680-2692_680-2686del,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.266,0.0098,1KG_AFR_AF,PNPT1
437154,2:55902906:C>T,55902906,NM_033109.4,NM_033109.4:c.680-2692G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.052,\N,\N,PNPT1
437155,2:55902910:C>A,55902910,NM_033109.4,NM_033109.4:c.680-2696G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.365,\N,\N,PNPT1
437156,2:55903016:A>C,55903016,NM_033109.4,NM_033109.4:c.680-2802T>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,16.38,0.4049,1KG_SAS_AF,PNPT1
437157,2:55903044:G>A,55903044,NM_033109.4,NM_033109.4:c.680-2830C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.8,0.001,1KG_SAS_AF,PNPT1
437158,2:55903056:A>G,55903056,NM_033109.4,NM_033109.4:c.680-2842T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,10.41,0.0377,1KG_EAS_AF,PNPT1
437159,2:55903067:C>T,55903067,NM_033109.4,NM_033109.4:c.680-2853G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.467,0.0041,1KG_SAS_AF,PNPT1
437160,2:55903116:C>A,55903116,NM_033109.4,NM_033109.4:c.680-2902G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.263,\N,\N,PNPT1
437161,2:55903134:G>A,55903134,NM_033109.4,NM_033109.4:c.680-2920C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.057,0.0008,1KG_AFR_AF,PNPT1
437162,2:55903147:G>A,55903147,NM_033109.4,NM_033109.4:c.680-2933C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.37,0.0014,1KG_AMR_AF,PNPT1
437163,2:55903160:C>G,55903160,NM_033109.4,NM_033109.4:c.680-2946G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.083,\N,\N,PNPT1
437164,2:55903168:G>C,55903168,NM_033109.4,NM_033109.4:c.680-2954C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.678,\N,\N,PNPT1
437165,2:55903175:C>A,55903175,NM_033109.4,NM_033109.4:c.680-2961G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.281,0.0008,1KG_AFR_AF,PNPT1
437166,2:55903176:A>G,55903176,NM_033109.4,NM_033109.4:c.680-2962T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.823,\N,\N,PNPT1
437167,2:55903178:C>T,55903178,NM_033109.4,NM_033109.4:c.680-2964G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.345,0.001,1KG_SAS_AF,PNPT1
437168,2:55903195:A>C,55903195,NM_033109.4,NM_033109.4:c.680-2981T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.587,0.0038,1KG_AFR_AF,PNPT1
437169,2:55903209:A>C,55903209,NM_033109.4,NM_033109.4:c.680-2995T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.941,\N,\N,PNPT1
437170,2:55903224:C>T,55903224,NM_033109.4,NM_033109.4:c.680-3010G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.604,0.0023,1KG_AFR_AF,PNPT1
437171,2:55903229:C>T,55903229,NM_033109.4,NM_033109.4:c.680-3015G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.389,\N,\N,PNPT1
437172,2:55903248:A>G,55903248,NM_033109.4,NM_033109.4:c.680-3034T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.659,0.0393,1KG_AFR_AF,PNPT1
437173,2:55903260:T>C,55903260,NM_033109.4,NM_033109.4:c.680-3046A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.349,\N,\N,PNPT1
437174,2:55903263:T>G,55903263,NM_033109.4,NM_033109.4:c.680-3049A>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.369,0.3926,1KG_AFR_AF,PNPT1
437175,2:55903267:C>T,55903267,NM_033109.4,NM_033109.4:c.680-3053G>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.031,0.3926,1KG_AFR_AF,PNPT1
437176,2:55903276:T>C,55903276,NM_033109.4,NM_033109.4:c.680-3062A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.343,\N,\N,PNPT1
437177,2:55903278:C>T,55903278,NM_033109.4,NM_033109.4:c.680-3064G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.374,\N,\N,PNPT1
437178,2:55903291:A>T,55903291,NM_033109.4,NM_033109.4:c.680-3077T>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.963,0.0219,1KG_EUR_AF,PNPT1
437179,2:55903299:T>G,55903299,NM_033109.4,NM_033109.4:c.680-3085A>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.81,0.975,1KG_AFR_AF,PNPT1
437180,2:55903309:C>T,55903309,NM_033109.4,NM_033109.4:c.680-3095G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.34,0.0014,1KG_AMR_AF,PNPT1
437181,2:55903342:C>T,55903342,NM_033109.4,NM_033109.4:c.680-3128G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.247,\N,\N,PNPT1
437182,2:55903348:T>TGC,55903348,NM_033109.4,NM_033109.4:c.680-3136_680-3135dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.484,\N,\N,PNPT1
437183,2:55903358:C>T,55903358,NM_033109.4,NM_033109.4:c.680-3144G>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.925,0.0092,1KG_SAS_AF,PNPT1
437184,2:55903373:G>A,55903373,NM_033109.4,NM_033109.4:c.680-3159C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.012,0.001,1KG_EUR_AF,PNPT1
437185,2:55903381:A>G,55903381,NM_033109.4,NM_033109.4:c.680-3167T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.782,\N,\N,PNPT1
437186,2:55903390:T>A,55903390,NM_033109.4,NM_033109.4:c.680-3176A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.308,0.0008,1KG_AFR_AF,PNPT1
437187,2:55903395:A>C,55903395,NM_033109.4,NM_033109.4:c.680-3181T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.212,\N,\N,PNPT1
437188,2:55903397:C>CA,55903397,NM_033109.4,NM_033109.4:c.680-3184dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.149,\N,\N,PNPT1
437189,2:55903397:C>CAA,55903397,NM_033109.4,NM_033109.4:c.680-3185_680-3184dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.013,\N,\N,PNPT1
437190,2:55903397:C>CAAA,55903397,NM_033109.4,NM_033109.4:c.680-3186_680-3184dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.883,\N,\N,PNPT1
437191,2:55903420:G>A,55903420,NM_033109.4,NM_033109.4:c.680-3206C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.243,\N,\N,PNPT1
437192,2:55903432:A>C,55903432,NM_033109.4,NM_033109.4:c.680-3218T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.198,0.001,1KG_SAS_AF,PNPT1
437193,2:55903457:A>C,55903457,NM_033109.4,NM_033109.4:c.680-3243T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.809,0.001,1KG_EAS_AF,PNPT1
437194,2:55903464:A>G,55903464,NM_033109.4,NM_033109.4:c.680-3250T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.149,0.0029,1KG_AMR_AF,PNPT1
437195,2:55903502:C>T,55903502,NM_033109.4,NM_033109.4:c.680-3288G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.507,\N,\N,PNPT1
437196,2:55903516:A>G,55903516,NM_033109.4,NM_033109.4:c.679+3301T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.032,0.002,1KG_EAS_AF,PNPT1
437197,2:55903530:G>C,55903530,NM_033109.4,NM_033109.4:c.679+3287C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.679,0.001,1KG_EAS_AF,PNPT1
437198,2:55903546:A>C,55903546,NM_033109.4,NM_033109.4:c.679+3271T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.358,0.001,1KG_EUR_AF,PNPT1
437199,2:55903553:T>C,55903553,NM_033109.4,NM_033109.4:c.679+3264A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.593,0.0014,1KG_AMR_AF,PNPT1
437200,2:55903559:C>A,55903559,NM_033109.4,NM_033109.4:c.679+3258G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.209,0.001,1KG_EUR_AF,PNPT1
437201,2:55903560:A>C,55903560,NM_033109.4,NM_033109.4:c.679+3257T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.078,\N,\N,PNPT1
437202,2:55903586:A>G,55903586,NM_033109.4,NM_033109.4:c.679+3231T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.622,0.0234,1KG_AFR_AF,PNPT1
437203,2:55903589:T>C,55903589,NM_033109.4,NM_033109.4:c.679+3228A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.049,\N,\N,PNPT1
437204,2:55903594:G>A,55903594,NM_033109.4,NM_033109.4:c.679+3223C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.708,0.001,1KG_EUR_AF,PNPT1
437205,2:55903620:G>T,55903620,NM_033109.4,NM_033109.4:c.679+3197C>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.901,0.9826,1KG_AFR_AF,PNPT1
437206,2:55903631:T>G,55903631,NM_033109.4,NM_033109.4:c.679+3186A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.191,0.0031,1KG_SAS_AF,PNPT1
437207,2:55903634:G>T,55903634,NM_033109.4,NM_033109.4:c.679+3183C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.454,\N,\N,PNPT1
437208,2:55903661:C>T,55903661,NM_033109.4,NM_033109.4:c.679+3156G>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.736,0.0726,1KG_EUR_AF,PNPT1
437209,2:55903665:G>A,55903665,NM_033109.4,NM_033109.4:c.679+3152C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.109,0.0045,1KG_AFR_AF,PNPT1
437210,2:55903681:C>T,55903681,NM_033109.4,NM_033109.4:c.679+3136G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.686,0.001,1KG_EUR_AF,PNPT1
437211,2:55903698:T>TA,55903698,NM_033109.4,NM_033109.4:c.679+3118dup,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.758,0.0716,1KG_SAS_AF,PNPT1
437212,2:55903705:C>G,55903705,NM_033109.4,NM_033109.4:c.679+3112G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.032,\N,\N,PNPT1
437213,2:55903711:G>A,55903711,NM_033109.4,NM_033109.4:c.679+3106C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.779,0.1431,1KG_SAS_AF,PNPT1
437214,2:55903719:G>A,55903719,NM_033109.4,NM_033109.4:c.679+3098C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.033,0.0015,1KG_AFR_AF,PNPT1
437215,2:55903728:G>A,55903728,NM_033109.4,NM_033109.4:c.679+3089C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.009,0.0008,1KG_AFR_AF,PNPT1
437216,2:55903747:G>A,55903747,NM_033109.4,NM_033109.4:c.679+3070C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.413,0.9728,1KG_AFR_AF,PNPT1
437217,2:55903755:G>C,55903755,NM_033109.4,NM_033109.4:c.679+3062C>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.283,0.006,1KG_EAS_AF,PNPT1
437218,2:55903777:A>G,55903777,NM_033109.4,NM_033109.4:c.679+3040T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.906,0.0045,1KG_AFR_AF,PNPT1
437219,2:55903778:C>T,55903778,NM_033109.4,NM_033109.4:c.679+3039G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.864,0.001,1KG_EUR_AF,PNPT1
437220,2:55903787:A>G,55903787,NM_033109.4,NM_033109.4:c.679+3030T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.204,0.0197,1KG_AFR_AF,PNPT1
437221,2:55903829:T>G,55903829,NM_033109.4,NM_033109.4:c.679+2988A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.839,\N,\N,PNPT1
437222,2:55903845:A>C,55903845,NM_033109.4,NM_033109.4:c.679+2972T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.366,0.001,1KG_EAS_AF,PNPT1
437223,2:55903846:A>C,55903846,NM_033109.4,NM_033109.4:c.679+2971T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.855,0.001,1KG_EAS_AF,PNPT1
437224,2:55903867:C>A,55903867,NM_033109.4,NM_033109.4:c.679+2950G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.391,0.0008,1KG_AFR_AF,PNPT1
437225,2:55903867:C>T,55903867,NM_033109.4,NM_033109.4:c.679+2950G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.297,\N,\N,PNPT1
437226,2:55903869:C>T,55903869,NM_033109.4,NM_033109.4:c.679+2948G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.436,\N,\N,PNPT1
437227,2:55903870:G>A,55903870,NM_033109.4,NM_033109.4:c.679+2947C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.447,0.0014,1KG_AMR_AF,PNPT1
437228,2:55903905:G>A,55903905,NM_033109.4,NM_033109.4:c.679+2912C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.05,0.001,1KG_EAS_AF,PNPT1
437229,2:55903972:C>G,55903972,NM_033109.4,NM_033109.4:c.679+2845G>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.702,0.975,1KG_AFR_AF,PNPT1
437230,2:55903972:C>T,55903972,NM_033109.4,NM_033109.4:c.679+2845G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.345,\N,\N,PNPT1
437231,2:55903988:C>A,55903988,NM_033109.4,NM_033109.4:c.679+2829G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.228,0.001,1KG_EAS_AF,PNPT1
437232,2:55903997:C>T,55903997,NM_033109.4,NM_033109.4:c.679+2820G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.016,\N,\N,PNPT1
437233,2:55904009:A>C,55904009,NM_033109.4,NM_033109.4:c.679+2808T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.628,0.0008,1KG_AFR_AF,PNPT1
437234,2:55904014:A>G,55904014,NM_033109.4,NM_033109.4:c.679+2803T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.374,0.0029,1KG_AMR_AF,PNPT1
437235,2:55904016:T>C,55904016,NM_033109.4,NM_033109.4:c.679+2801A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.723,\N,\N,PNPT1
437236,2:55904045:T>C,55904045,NM_033109.4,NM_033109.4:c.679+2772A>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.164,0.0716,1KG_SAS_AF,PNPT1
437237,2:55904061:A>G,55904061,NM_033109.4,NM_033109.4:c.679+2756T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.59,0.0787,1KG_SAS_AF,PNPT1
437238,2:55904074:A>G,55904074,NM_033109.4,NM_033109.4:c.679+2743T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.949,\N,\N,PNPT1
437239,2:55904092:T>C,55904092,NM_033109.4,NM_033109.4:c.679+2725A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.038,\N,\N,PNPT1
437240,2:55904117:G>A,55904117,NM_033109.4,NM_033109.4:c.679+2700C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.113,\N,\N,PNPT1
437241,2:55904136:C>T,55904136,NM_033109.4,NM_033109.4:c.679+2681G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.17,\N,\N,PNPT1
437242,2:55904143:A>G,55904143,NM_033109.4,NM_033109.4:c.679+2674T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.22,\N,\N,PNPT1
437243,2:55904148:G>A,55904148,NM_033109.4,NM_033109.4:c.679+2669C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.92,\N,\N,PNPT1
437244,2:55904149:G>A,55904149,NM_033109.4,NM_033109.4:c.679+2668C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.97,0.004,1KG_EAS_AF,PNPT1
437245,2:55904160:A>G,55904160,NM_033109.4,NM_033109.4:c.679+2657T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.52,0.001,1KG_SAS_AF,PNPT1
437246,2:55904168:T>C,55904168,NM_033109.4,NM_033109.4:c.679+2649A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.49,\N,\N,PNPT1
437247,2:55904170:C>A,55904170,NM_033109.4,NM_033109.4:c.679+2647G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.16,0.0041,1KG_SAS_AF,PNPT1
437248,2:55904182:A>C,55904182,NM_033109.4,NM_033109.4:c.679+2635T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.479,0.001,1KG_EUR_AF,PNPT1
437249,2:55904251:T>A,55904251,NM_033109.4,NM_033109.4:c.679+2566A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.11,\N,\N,PNPT1
437250,2:55904298:C>T,55904298,NM_033109.4,NM_033109.4:c.679+2519G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.293,\N,\N,PNPT1
437251,2:55904305:T>TA,55904305,NM_033109.4,NM_033109.4:c.679+2511dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437252,2:55904322:T>C,55904322,NM_033109.4,NM_033109.4:c.679+2495A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.455,0.001,1KG_EAS_AF,PNPT1
437253,2:55904333:C>T,55904333,NM_033109.4,NM_033109.4:c.679+2484G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.469,\N,\N,PNPT1
437254,2:55904352:T>G,55904352,NM_033109.4,NM_033109.4:c.679+2465A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.628,0.004,1KG_EUR_AF,PNPT1
437255,2:55904353:C>A,55904353,NM_033109.4,NM_033109.4:c.679+2464G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.713,0.0008,1KG_AFR_AF,PNPT1
437256,2:55904372:T>C,55904372,NM_033109.4,NM_033109.4:c.679+2445A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.371,\N,\N,PNPT1
437257,2:55904378:G>A,55904378,NM_033109.4,NM_033109.4:c.679+2439C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.491,0.0008,1KG_AFR_AF,PNPT1
437258,2:55904403:G>T,55904403,NM_033109.4,NM_033109.4:c.679+2414C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.285,0.0023,1KG_AFR_AF,PNPT1
437259,2:55904423:T>C,55904423,NM_033109.4,NM_033109.4:c.679+2394A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.061,0.0029,1KG_AMR_AF,PNPT1
437260,2:55904425:T>G,55904425,NM_033109.4,NM_033109.4:c.679+2392A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.745,0.001,1KG_EUR_AF,PNPT1
437261,2:55904427:C>A,55904427,NM_033109.4,NM_033109.4:c.679+2390G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.397,0.0038,1KG_AFR_AF,PNPT1
437262,2:55904455:G>A,55904455,NM_033109.4,NM_033109.4:c.679+2362C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.901,0.001,1KG_EAS_AF|1KG_SAS_AF,PNPT1
437263,2:55904471:A>G,55904471,NM_033109.4,NM_033109.4:c.679+2346T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.275,0.0129,1KG_AFR_AF,PNPT1
437264,2:55904476:C>T,55904476,NM_033109.4,NM_033109.4:c.679+2341G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.827,\N,\N,PNPT1
437265,2:55904495:G>A,55904495,NM_033109.4,NM_033109.4:c.679+2322C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.836,0.004,1KG_EAS_AF,PNPT1
437266,2:55904500:G>A,55904500,NM_033109.4,NM_033109.4:c.679+2317C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.138,0.0014,1KG_AMR_AF,PNPT1
437267,2:55904511:T>C,55904511,NM_033109.4,NM_033109.4:c.679+2306A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.812,0.0008,1KG_AFR_AF,PNPT1
437268,2:55904526:A>C,55904526,NM_033109.4,NM_033109.4:c.679+2291T>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.555,0.9735,1KG_AFR_AF,PNPT1
437269,2:55904526:A>T,55904526,NM_033109.4,NM_033109.4:c.679+2291T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.685,0.0015,1KG_AFR_AF,PNPT1
437270,2:55904545:A>G,55904545,NM_033109.4,NM_033109.4:c.679+2272T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.689,\N,\N,PNPT1
437271,2:55904581:T>C,55904581,NM_033109.4,NM_033109.4:c.679+2236A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.187,0.001,1KG_SAS_AF,PNPT1
437272,2:55904588:G>A,55904588,NM_033109.4,NM_033109.4:c.679+2229C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.449,0.0245,1KG_SAS_AF,PNPT1
437273,2:55904602:G>A,55904602,NM_033109.4,NM_033109.4:c.679+2215C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.691,\N,\N,PNPT1
437274,2:55904687:C>G,55904687,NM_033109.4,NM_033109.4:c.679+2130G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.04,\N,\N,PNPT1
437275,2:55904731:C>CAAA,55904731,NM_033109.4,NM_033109.4:c.679+2083_679+2085dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.78,\N,\N,PNPT1
437276,2:55904757:A>G,55904757,NM_033109.4,NM_033109.4:c.679+2060T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.496,\N,\N,PNPT1
437277,2:55904762:A>G,55904762,NM_033109.4,NM_033109.4:c.679+2055T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.61,0.1421,1KG_SAS_AF,PNPT1
437278,2:55904813:A>AAG,55904813,NM_033109.4,NM_033109.4:c.679+2002_679+2003dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437279,2:55904814:A>AGG,55904814,NM_033109.4,NM_033109.4:c.679+2001_679+2002dup,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.425,0.1297,1KG_AMR_AF,PNPT1
437280,2:55904859:G>C,55904859,NM_033109.4,NM_033109.4:c.679+1958C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.43,0.001,1KG_EUR_AF,PNPT1
437281,2:55904879:CTTGT>C,55904879,NM_033109.4,NM_033109.4:c.679+1934_679+1937del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.501,\N,\N,PNPT1
437282,2:55904895:GAC>G,55904895,NM_033109.4,NM_033109.4:c.679+1920_679+1921del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437283,2:55904905:C>G,55904905,NM_033109.4,NM_033109.4:c.679+1912G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.147,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PNPT1
437284,2:55904943:C>T,55904943,NM_033109.4,NM_033109.4:c.679+1874G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.405,0.001,1KG_EAS_AF,PNPT1
437285,2:55904960:T>C,55904960,NM_033109.4,NM_033109.4:c.679+1857A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.112,\N,\N,PNPT1
437286,2:55904962:C>A,55904962,NM_033109.4,NM_033109.4:c.679+1855G>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.494,0.0348,1KG_AFR_AF,PNPT1
437287,2:55904967:C>T,55904967,NM_033109.4,NM_033109.4:c.679+1850G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.72,0.0008,1KG_AFR_AF,PNPT1
437288,2:55904970:G>A,55904970,NM_033109.4,NM_033109.4:c.679+1847C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.04,0.0014,1KG_AMR_AF,PNPT1
437289,2:55904976:G>A,55904976,NM_033109.4,NM_033109.4:c.679+1841C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.12,0.001,1KG_SAS_AF,PNPT1
437290,2:55904997:C>T,55904997,NM_033109.4,NM_033109.4:c.679+1820G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.741,\N,\N,PNPT1
437291,2:55905019:G>A,55905019,NM_033109.4,NM_033109.4:c.679+1798C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.172,\N,\N,PNPT1
437292,2:55905030:C>T,55905030,NM_033109.4,NM_033109.4:c.679+1787G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.964,0.0031,1KG_SAS_AF,PNPT1
437293,2:55905031:G>A,55905031,NM_033109.4,NM_033109.4:c.679+1786C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.971,0.0008,1KG_AFR_AF,PNPT1
437294,2:55905033:C>T,55905033,NM_033109.4,NM_033109.4:c.679+1784G>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.006,0.0053,1KG_AFR_AF,PNPT1
437295,2:55905035:G>A,55905035,NM_033109.4,NM_033109.4:c.679+1782C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.247,\N,\N,PNPT1
437296,2:55905049:T>C,55905049,NM_033109.4,NM_033109.4:c.679+1768A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.735,\N,\N,PNPT1
437297,2:55905050:G>A,55905050,NM_033109.4,NM_033109.4:c.679+1767C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.838,0.001,1KG_EAS_AF|1KG_SAS_AF,PNPT1
437298,2:55905051:T>C,55905051,NM_033109.4,NM_033109.4:c.679+1766A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.051,0.001,1KG_SAS_AF,PNPT1
437299,2:55905062:G>A,55905062,NM_033109.4,NM_033109.4:c.679+1755C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.494,0.003,1KG_EUR_AF,PNPT1
437300,2:55905087:A>T,55905087,NM_033109.4,NM_033109.4:c.679+1730T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.03,\N,\N,PNPT1
437301,2:55905098:G>C,55905098,NM_033109.4,NM_033109.4:c.679+1719C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.033,0.001,1KG_EUR_AF,PNPT1
437302,2:55905106:G>A,55905106,NM_033109.4,NM_033109.4:c.679+1711C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.296,0.001,1KG_EUR_AF,PNPT1
437303,2:55905122:T>G,55905122,NM_033109.4,NM_033109.4:c.679+1695A>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.439,0.5239,1KG_EUR_AF,PNPT1
437304,2:55905124:C>T,55905124,NM_033109.4,NM_033109.4:c.679+1693G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.88,0.001,1KG_SAS_AF,PNPT1
437305,2:55905145:G>A,55905145,NM_033109.4,NM_033109.4:c.679+1672C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.128,0.0409,1KG_SAS_AF,PNPT1
437306,2:55905155:C>T,55905155,NM_033109.4,NM_033109.4:c.679+1662G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.45,0.0014,1KG_AMR_AF,PNPT1
437307,2:55905156:G>A,55905156,NM_033109.4,NM_033109.4:c.679+1661C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.128,0.0716,1KG_SAS_AF,PNPT1
437308,2:55905172:G>A,55905172,NM_033109.4,NM_033109.4:c.679+1645C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.437,0.0008,1KG_AFR_AF,PNPT1
437309,2:55905182:G>A,55905182,NM_033109.4,NM_033109.4:c.679+1635C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.348,0.001,1KG_EAS_AF,PNPT1
437310,2:55905186:C>A,55905186,NM_033109.4,NM_033109.4:c.679+1631G>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.57,0.0517,1KG_EUR_AF,PNPT1
437311,2:55905191:T>A,55905191,NM_033109.4,NM_033109.4:c.679+1626A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.5,0.0008,1KG_AFR_AF,PNPT1
437312,2:55905197:T>C,55905197,NM_033109.4,NM_033109.4:c.679+1620A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.354,\N,\N,PNPT1
437313,2:55905202:G>A,55905202,NM_033109.4,NM_033109.4:c.679+1615C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.68,0.0014,1KG_AMR_AF,PNPT1
437314,2:55905221:T>C,55905221,NM_033109.4,NM_033109.4:c.679+1596A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.372,\N,\N,PNPT1
437315,2:55905229:C>A,55905229,NM_033109.4,NM_033109.4:c.679+1588G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.38,0.0008,1KG_AFR_AF,PNPT1
437316,2:55905234:T>A,55905234,NM_033109.4,NM_033109.4:c.679+1583A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.56,\N,\N,PNPT1
437317,2:55905235:G>A,55905235,NM_033109.4,NM_033109.4:c.679+1582C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.17,0.002,1KG_SAS_AF,PNPT1
437318,2:55905266:A>C,55905266,NM_033109.4,NM_033109.4:c.679+1551T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.514,\N,\N,PNPT1
437319,2:55905266:A>G,55905266,NM_033109.4,NM_033109.4:c.679+1551T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.275,0.0068,1KG_AFR_AF,PNPT1
437320,2:55905278:T>G,55905278,NM_033109.4,NM_033109.4:c.679+1539A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.469,0.001,1KG_EAS_AF,PNPT1
437321,2:55905309:A>G,55905309,NM_033109.4,NM_033109.4:c.679+1508T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.758,0.0029,1KG_AMR_AF,PNPT1
437322,2:55905319:G>A,55905319,NM_033109.4,NM_033109.4:c.679+1498C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.443,\N,\N,PNPT1
437323,2:55905320:C>T,55905320,NM_033109.4,NM_033109.4:c.679+1497G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.766,0.0038,1KG_AFR_AF,PNPT1
437324,2:55905345:T>G,55905345,NM_033109.4,NM_033109.4:c.679+1472A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.1,\N,\N,PNPT1
437325,2:55905349:G>C,55905349,NM_033109.4,NM_033109.4:c.679+1468C>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.699,0.0069,1KG_EAS_AF,PNPT1
437326,2:55905375:C>G,55905375,NM_033109.4,NM_033109.4:c.679+1442G>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.511,0.0189,1KG_EUR_AF,PNPT1
437327,2:55905380:C>G,55905380,NM_033109.4,NM_033109.4:c.679+1437G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.783,\N,\N,PNPT1
437328,2:55905383:C>T,55905383,NM_033109.4,NM_033109.4:c.679+1434G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.705,0.0023,1KG_AFR_AF,PNPT1
437329,2:55905403:T>C,55905403,NM_033109.4,NM_033109.4:c.679+1414A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.299,0.001,1KG_EUR_AF,PNPT1
437330,2:55905443:A>C,55905443,NM_033109.4,NM_033109.4:c.679+1374T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.181,0.0031,1KG_SAS_AF,PNPT1
437331,2:55905450:C>G,55905450,NM_033109.4,NM_033109.4:c.679+1367G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.696,\N,\N,PNPT1
437332,2:55905463:T>C,55905463,NM_033109.4,NM_033109.4:c.679+1354A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.197,\N,\N,PNPT1
437333,2:55905478:C>T,55905478,NM_033109.4,NM_033109.4:c.679+1339G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.574,0.0014,1KG_AMR_AF,PNPT1
437334,2:55905479:G>A,55905479,NM_033109.4,NM_033109.4:c.679+1338C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.088,\N,\N,PNPT1
437335,2:55905535:C>G,55905535,NM_033109.4,NM_033109.4:c.679+1282G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.949,\N,\N,PNPT1
437336,2:55905575:G>T,55905575,NM_033109.4,NM_033109.4:c.679+1242C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.052,\N,\N,PNPT1
437337,2:55905613:T>C,55905613,NM_033109.4,NM_033109.4:c.679+1204A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.353,0.001,1KG_SAS_AF,PNPT1
437338,2:55905617:T>G,55905617,NM_033109.4,NM_033109.4:c.679+1200A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.443,0.0041,1KG_SAS_AF,PNPT1
437339,2:55905622:C>T,55905622,NM_033109.4,NM_033109.4:c.679+1195G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.007,\N,\N,PNPT1
437340,2:55905623:G>A,55905623,NM_033109.4,NM_033109.4:c.679+1194C>T,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.409,0.0159,1KG_AMR_AF,PNPT1
437341,2:55905650:A>T,55905650,NM_033109.4,NM_033109.4:c.679+1167T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.042,0.0008,1KG_AFR_AF,PNPT1
437342,2:55905662:T>C,55905662,NM_033109.4,NM_033109.4:c.679+1155A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.46,\N,\N,PNPT1
437343,2:55905745:G>T,55905745,NM_033109.4,NM_033109.4:c.679+1072C>A,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.515,0.0338,1KG_EUR_AF,PNPT1
437344,2:55905750:C>T,55905750,NM_033109.4,NM_033109.4:c.679+1067G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.743,\N,\N,PNPT1
437345,2:55905761:T>C,55905761,NM_033109.4,NM_033109.4:c.679+1056A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.771,0.0008,1KG_AFR_AF,PNPT1
437346,2:55905800:G>C,55905800,NM_033109.4,NM_033109.4:c.679+1017C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.027,0.0008,1KG_AFR_AF,PNPT1
437347,2:55905807:T>C,55905807,NM_033109.4,NM_033109.4:c.679+1010A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.095,\N,\N,PNPT1
437348,2:55905810:A>G,55905810,NM_033109.4,NM_033109.4:c.679+1007T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.145,0.0008,1KG_AFR_AF,PNPT1
437349,2:55905829:G>GA,55905829,NM_033109.4,NM_033109.4:c.679+987dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437350,2:55905852:T>C,55905852,NM_033109.4,NM_033109.4:c.679+965A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.24,\N,\N,PNPT1
437351,2:55905856:C>G,55905856,NM_033109.4,NM_033109.4:c.679+961G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.93,\N,\N,PNPT1
437352,2:55905876:C>G,55905876,NM_033109.4,NM_033109.4:c.679+941G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.184,0.001,1KG_EUR_AF|1KG_SAS_AF,PNPT1
437353,2:55905894:G>A,55905894,NM_033109.4,NM_033109.4:c.679+923C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.18,\N,\N,PNPT1
437354,2:55905947:C>G,55905947,NM_033109.4,NM_033109.4:c.679+870G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.797,\N,\N,PNPT1
437355,2:55905951:T>C,55905951,NM_033109.4,NM_033109.4:c.679+866A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.574,\N,\N,PNPT1
437356,2:55906017:A>G,55906017,NM_033109.4,NM_033109.4:c.679+800T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.638,\N,\N,PNPT1
437357,2:55906027:T>G,55906027,NM_033109.4,NM_033109.4:c.679+790A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.384,0.0014,1KG_AMR_AF,PNPT1
437358,2:55906052:A>G,55906052,NM_033109.4,NM_033109.4:c.679+765T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.626,0.0015,1KG_AFR_AF,PNPT1
437359,2:55906079:T>A,55906079,NM_033109.4,NM_033109.4:c.679+738A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.526,\N,\N,PNPT1
437360,2:55906146:AG>A,55906146,NM_033109.4,NM_033109.4:c.679+670del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437361,2:55906195:G>C,55906195,NM_033109.4,NM_033109.4:c.679+622C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.3,\N,\N,PNPT1
437362,2:55906219:C>G,55906219,NM_033109.4,NM_033109.4:c.679+598G>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.941,\N,\N,PNPT1
437363,2:55906264:G>A,55906264,NM_033109.4,NM_033109.4:c.679+553C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.594,\N,\N,PNPT1
437364,2:55906296:AGT>A,55906296,NM_033109.4,NM_033109.4:c.679+519_679+520del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437365,2:55906303:G>A,55906303,NM_033109.4,NM_033109.4:c.679+514C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.658,0.002,1KG_EAS_AF,PNPT1
437366,2:55906320:A>G,55906320,NM_033109.4,NM_033109.4:c.679+497T>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.816,0.0045,1KG_AFR_AF,PNPT1
437367,2:55906332:CTATTT>C,55906332,NM_033109.4,NM_033109.4:c.679+480_679+484del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437368,2:55906359:T>C,55906359,NM_033109.4,NM_033109.4:c.679+458A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.277,0.002,1KG_EAS_AF,PNPT1
437369,2:55906365:T>C,55906365,NM_033109.4,NM_033109.4:c.679+452A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.672,\N,\N,PNPT1
437370,2:55906410:G>C,55906410,NM_033109.4,NM_033109.4:c.679+407C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.129,0.001,1KG_EUR_AF,PNPT1
437371,2:55906412:T>C,55906412,NM_033109.4,NM_033109.4:c.679+405A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.937,\N,\N,PNPT1
437372,2:55906419:T>C,55906419,NM_033109.4,NM_033109.4:c.679+398A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.747,\N,\N,PNPT1
437373,2:55906433:A>C,55906433,NM_033109.4,NM_033109.4:c.679+384T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.261,0.003,1KG_AFR_AF,PNPT1
437374,2:55906456:A>G,55906456,NM_033109.4,NM_033109.4:c.679+361T>C,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.832,0.0058,1KG_AMR_AF,PNPT1
437375,2:55906540:A>T,55906540,NM_033109.4,NM_033109.4:c.679+277T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.462,0.001,1KG_EAS_AF,PNPT1
437376,2:55906552:T>C,55906552,NM_033109.4,NM_033109.4:c.679+265A>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.727,0.0716,1KG_SAS_AF,PNPT1
437377,2:55906592:G>A,55906592,NM_033109.4,NM_033109.4:c.679+225C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.043,0.001,1KG_EUR_AF,PNPT1
437378,2:55906597:T>G,55906597,NM_033109.4,NM_033109.4:c.679+220A>C,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.057,\N,\N,PNPT1
437379,2:55906600:T>A,55906600,NM_033109.4,NM_033109.4:c.679+217A>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.673,0.0008,1KG_AFR_AF,PNPT1
437380,2:55906626:A>C,55906626,NM_033109.4,NM_033109.4:c.679+191T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.561,\N,\N,PNPT1
437381,2:55906651:G>T,55906651,NM_033109.4,NM_033109.4:c.679+166C>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.049,0.0008,1KG_AFR_AF,PNPT1
437382,2:55906657:A>T,55906657,NM_033109.4,NM_033109.4:c.679+160T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.494,0.001,1KG_EUR_AF,PNPT1
437383,2:55906686:G>C,55906686,NM_033109.4,NM_033109.4:c.679+131C>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.06,0.0089,1KG_EAS_AF,PNPT1
437384,2:55906689:C>T,55906689,NM_033109.4,NM_033109.4:c.679+128G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.476,\N,\N,PNPT1
437385,2:55906721:TA>T,55906721,NM_033109.4,NM_033109.4:c.679+95del,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437386,2:55906724:C>T,55906724,NM_033109.4,NM_033109.4:c.679+93G>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.171,0.0014,1KG_AMR_AF,PNPT1
437387,2:55906744:G>A,55906744,NM_033109.4,NM_033109.4:c.679+73C>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.589,\N,\N,PNPT1
437388,2:55906768:G>C,55906768,NM_033109.4,NM_033109.4:c.679+49C>G,\N,\N,\N,8/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.724,0.0083,1KG_AFR_AF,PNPT1
437389,2:55906771:C>A,55906771,NM_033109.4,NM_033109.4:c.679+46G>T,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.759,0.00181653,EVS_AA_AF,PNPT1
437390,2:55906772:T>C,55906772,NM_033109.4,NM_033109.4:c.679+45A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.775,0.0001241,EXAC_EAS_AF,PNPT1
437391,2:55906774:G>C,55906774,NM_033109.4,NM_033109.4:c.679+43C>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.715,0.000125298,EXAC_SAS_AF,PNPT1
437392,2:55906774:G>GT,55906774,NM_033109.4,NM_033109.4:c.679+42dup,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.034,0.000201816,EXAC_AFR_AF,PNPT1
437393,2:55906776:A>C,55906776,NM_033109.4,NM_033109.4:c.679+41T>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.394,0.000155135,EXAC_FIN_AF,PNPT1
437394,2:55906776:A>T,55906776,NM_033109.4,NM_033109.4:c.679+41T>A,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.442,0.0000323834,EXAC_NFE_AF,PNPT1
437395,2:55906795:T>C,55906795,NM_033109.4,NM_033109.4:c.679+22A>G,\N,\N,\N,8/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.015,0.000123747,EXAC_SAS_AF,PNPT1
437396,2:55906816:C>T,55906816,NM_033109.4,NM_033109.4:c.679+1G>A,\N,\N,\N,8/27,Unknown significance,\N,splice_donor_variant,HIGH,\N,\N,27.5,0.0000609088,EXAC_SAS_AF,PNPT1
437397,2:55906828:T>C,55906828,NM_033109.4,NM_033109.4:c.668A>G,NP_149100.2:p.Lys223Arg,223,8/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,14.88,0.000121433,EXAC_SAS_AF,PNPT1
437398,2:55906829:T>C,55906829,NM_033109.4,NM_033109.4:c.667A>G,NP_149100.2:p.Lys223Glu,223,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,17.28,0.000347645,EXAC_AMR_AF,PNPT1
437399,2:55906847:C>T,55906847,NM_033109.4,NM_033109.4:c.649G>A,NP_149100.2:p.Val217Met,217,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,27.2,0.0000150254,EXAC_NFE_AF,PNPT1
437400,2:55906850:A>C,55906850,NM_033109.4,NM_033109.4:c.646T>G,NP_149100.2:p.Leu216Val,216,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,13.09,0.000115848,EXAC_EAS_AF,PNPT1
437401,2:55906859:T>A,55906859,NM_033109.4,NM_033109.4:c.637A>T,NP_149100.2:p.Thr213Ser,213,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,10.75,0.0000150222,EXAC_NFE_AF,PNPT1
437402,2:55906864:G>A,55906864,NM_033109.4,NM_033109.4:c.632C>T,NP_149100.2:p.Ser211Phe,211,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,20.2,0.000115821,EXAC_EAS_AF,PNPT1
437403,2:55906880:T>C,55906880,NM_033109.4,NM_033109.4:c.616A>G,NP_149100.2:p.Arg206Gly,206,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,25.3,0.0000607091,EXAC_SAS_AF,PNPT1
437404,2:55906883:T>C,55906883,NM_033109.4,NM_033109.4:c.613A>G,NP_149100.2:p.Thr205Ala,205,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,23.7,0.001,1KG_EUR_AF,PNPT1
437405,2:55906884:T>G,55906884,NM_033109.4,NM_033109.4:c.612A>C,NP_149100.2:p.Pro204=,204,8/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.04,0.001,1KG_SAS_AF,PNPT1
437406,2:55906894:A>G,55906894,NM_033109.4,NM_033109.4:c.602T>C,NP_149100.2:p.Val201Ala,201,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,24,0.000115848,EXAC_EAS_AF,PNPT1
437407,2:55906896:A>AT,55906896,NM_033109.4,NM_033109.4:c.599dup,NP_149100.2:p.Tyr200Ter,200,8/28,\N,Unknown significance,\N,stop_gained&frameshift_variant,HIGH,\N,\N,24.2,\N,\N,PNPT1
437408,2:55906901:C>T,55906901,NM_033109.4,NM_033109.4:c.595G>A,NP_149100.2:p.Glu199Lys,199,8/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,23.7,0.000121492,EXAC_SAS_AF,PNPT1
437409,2:55906913:T>C,55906913,NM_033109.4,NM_033109.4:c.583A>G,NP_149100.2:p.Ile195Val,195,8/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,12.28,0.000173762,EXAC_AMR_AF,PNPT1
437410,2:55906921:C>T,55906921,NM_033109.4,NM_033109.4:c.575G>A,NP_149100.2:p.Arg192Gln,192,8/28,\N,Likely pathogenic,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,35,0.0000972763,EXAC_AFR_AF,PNPT1
437411,2:55906923:T>G,55906923,NM_033109.4,NM_033109.4:c.573A>C,NP_149100.2:p.Val191=,191,8/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.07,0.000116171,EXAC_EAS_AF,PNPT1
437412,2:55906928:C>A,55906928,NM_033109.4,NM_033109.4:c.568G>T,NP_149100.2:p.Ala190Ser,190,8/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 2;PNPase/RNase PH domain,\N,33,0.000116306,EVS_EA_AF,PNPT1
437413,2:55906936:A>G,55906936,NM_033109.4,NM_033109.4:c.566-6T>C,\N,\N,\N,7/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,13.39,0.010445,EVS_AA_AF,PNPT1
437414,2:55906943:A>G,55906943,NM_033109.4,NM_033109.4:c.566-13T>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.724,0.0000620424,EXAC_SAS_AF,PNPT1
437415,2:55906944:G>C,55906944,NM_033109.4,NM_033109.4:c.566-14C>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.256,0.0000984252,EXAC_AFR_AF,PNPT1
437416,2:55906946:A>C,55906946,NM_033109.4,NM_033109.4:c.566-16T>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.53,0.0000155251,EXAC_NFE_AF,PNPT1
437417,2:55906951:G>A,55906951,NM_033109.4,NM_033109.4:c.566-21C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.187,0.0000156245,EXAC_NFE_AF,PNPT1
437418,2:55906952:G>C,55906952,NM_033109.4,NM_033109.4:c.566-22C>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.39,0.000015646,EXAC_NFE_AF,PNPT1
437419,2:55906952:G>T,55906952,NM_033109.4,NM_033109.4:c.566-22C>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.828,0.000015646,EXAC_NFE_AF,PNPT1
437420,2:55906964:T>C,55906964,NM_033109.4,NM_033109.4:c.566-34A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.176,0.000349081,EVS_EA_AF,PNPT1
437421,2:55906965:G>T,55906965,NM_033109.4,NM_033109.4:c.566-35C>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.174,\N,\N,PNPT1
437422,2:55906970:T>C,55906970,NM_033109.4,NM_033109.4:c.566-40A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.482,0.0000915416,EXAC_AMR_AF,PNPT1
437423,2:55906973:C>T,55906973,NM_033109.4,NM_033109.4:c.566-43G>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.463,\N,\N,PNPT1
437424,2:55907017:T>G,55907017,NM_033109.4,NM_033109.4:c.566-87A>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.605,0.001,1KG_SAS_AF,PNPT1
437425,2:55907025:G>A,55907025,NM_033109.4,NM_033109.4:c.566-95C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.508,\N,\N,PNPT1
437426,2:55907028:C>T,55907028,NM_033109.4,NM_033109.4:c.566-98G>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.592,\N,\N,PNPT1
437427,2:55907030:C>T,55907030,NM_033109.4,NM_033109.4:c.566-100G>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.223,0.001,1KG_EAS_AF,PNPT1
437428,2:55907044:T>C,55907044,NM_033109.4,NM_033109.4:c.566-114A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.661,\N,\N,PNPT1
437429,2:55907091:A>G,55907091,NM_033109.4,NM_033109.4:c.566-161T>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.659,0.0008,1KG_AFR_AF,PNPT1
437430,2:55907125:G>A,55907125,NM_033109.4,NM_033109.4:c.566-195C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.952,0.002,1KG_EAS_AF,PNPT1
437431,2:55907129:T>C,55907129,NM_033109.4,NM_033109.4:c.566-199A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.457,0.001,1KG_SAS_AF,PNPT1
437432,2:55907138:T>TC,55907138,NM_033109.4,NM_033109.4:c.566-209dup,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437433,2:55907138:TC>T,55907138,NM_033109.4,NM_033109.4:c.566-209del,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.067,\N,\N,PNPT1
437434,2:55907201:T>C,55907201,NM_033109.4,NM_033109.4:c.566-271A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.307,\N,\N,PNPT1
437435,2:55907225:C>T,55907225,NM_033109.4,NM_033109.4:c.566-295G>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.403,\N,\N,PNPT1
437436,2:55907229:C>A,55907229,NM_033109.4,NM_033109.4:c.566-299G>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.115,\N,\N,PNPT1
437437,2:55907243:A>G,55907243,NM_033109.4,NM_033109.4:c.566-313T>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.363,0.003,1KG_AFR_AF,PNPT1
437438,2:55907282:G>C,55907282,NM_033109.4,NM_033109.4:c.566-352C>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.815,\N,\N,PNPT1
437439,2:55907304:T>C,55907304,NM_033109.4,NM_033109.4:c.566-374A>G,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.736,0.0348,1KG_AFR_AF,PNPT1
437440,2:55907325:C>T,55907325,NM_033109.4,NM_033109.4:c.566-395G>A,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.152,0.0091,1KG_AFR_AF,PNPT1
437441,2:55907331:G>T,55907331,NM_033109.4,NM_033109.4:c.566-401C>A,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.582,0.0121,1KG_AFR_AF,PNPT1
437442,2:55907344:T>C,55907344,NM_033109.4,NM_033109.4:c.566-414A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.054,0.0014,1KG_AMR_AF,PNPT1
437443,2:55907352:C>T,55907352,NM_033109.4,NM_033109.4:c.566-422G>A,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.077,0.1247,1KG_SAS_AF,PNPT1
437444,2:55907357:C>T,55907357,NM_033109.4,NM_033109.4:c.566-427G>A,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.101,0.9932,1KG_AFR_AF,PNPT1
437445,2:55907362:G>A,55907362,NM_033109.4,NM_033109.4:c.566-432C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.082,0.001,1KG_EAS_AF,PNPT1
437446,2:55907372:G>A,55907372,NM_033109.4,NM_033109.4:c.566-442C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.866,0.0008,1KG_AFR_AF,PNPT1
437447,2:55907398:T>G,55907398,NM_033109.4,NM_033109.4:c.565+449A>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.009,\N,\N,PNPT1
437448,2:55907415:T>C,55907415,NM_033109.4,NM_033109.4:c.565+432A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.99,0.003,1KG_AFR_AF,PNPT1
437449,2:55907427:C>G,55907427,NM_033109.4,NM_033109.4:c.565+420G>C,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.487,0.0129,1KG_EUR_AF,PNPT1
437450,2:55907463:C>G,55907463,NM_033109.4,NM_033109.4:c.565+384G>C,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.235,0.9932,1KG_AFR_AF,PNPT1
437451,2:55907463:C>T,55907463,NM_033109.4,NM_033109.4:c.565+384G>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.074,\N,\N,PNPT1
437452,2:55907482:C>T,55907482,NM_033109.4,NM_033109.4:c.565+365G>A,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.717,0.3918,1KG_AFR_AF,PNPT1
437453,2:55907483:A>T,55907483,NM_033109.4,NM_033109.4:c.565+364T>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.832,0.001,1KG_EUR_AF,PNPT1
437454,2:55907506:G>A,55907506,NM_033109.4,NM_033109.4:c.565+341C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.34,0.0008,1KG_AFR_AF,PNPT1
437455,2:55907560:TA>T,55907560,NM_033109.4,NM_033109.4:c.565+286del,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.024,0.8979,1KG_AFR_AF,PNPT1
437456,2:55907560:TAA>T,55907560,NM_033109.4,NM_033109.4:c.565+285_565+286del,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.735,\N,\N,PNPT1
437457,2:55907560:TAAAAAAAA>T,55907560,NM_033109.4,NM_033109.4:c.565+279_565+286del,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.562,\N,\N,PNPT1
437458,2:55907575:A>G,55907575,NM_033109.4,NM_033109.4:c.565+272T>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.127,\N,\N,PNPT1
437459,2:55907576:AAAG>A,55907576,NM_033109.4,NM_033109.4:c.565+268_565+270del,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437460,2:55907579:G>A,55907579,NM_033109.4,NM_033109.4:c.565+268C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.138,\N,\N,PNPT1
437461,2:55907607:T>C,55907607,NM_033109.4,NM_033109.4:c.565+240A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.75,0.001,1KG_EAS_AF,PNPT1
437462,2:55907625:G>C,55907625,NM_033109.4,NM_033109.4:c.565+222C>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.821,\N,\N,PNPT1
437463,2:55907637:T>G,55907637,NM_033109.4,NM_033109.4:c.565+210A>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.845,\N,\N,PNPT1
437464,2:55907642:T>C,55907642,NM_033109.4,NM_033109.4:c.565+205A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.487,\N,\N,PNPT1
437465,2:55907646:G>A,55907646,NM_033109.4,NM_033109.4:c.565+201C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.397,\N,\N,PNPT1
437466,2:55907651:A>G,55907651,NM_033109.4,NM_033109.4:c.565+196T>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.941,\N,\N,PNPT1
437467,2:55907681:G>A,55907681,NM_033109.4,NM_033109.4:c.565+166C>T,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.23,0.0053,1KG_AFR_AF,PNPT1
437468,2:55907690:T>C,55907690,NM_033109.4,NM_033109.4:c.565+157A>G,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.192,0.007,1KG_EUR_AF,PNPT1
437469,2:55907708:G>A,55907708,NM_033109.4,NM_033109.4:c.565+139C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.65,0.001,1KG_EAS_AF,PNPT1
437470,2:55907720:C>T,55907720,NM_033109.4,NM_033109.4:c.565+127G>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.297,0.0029,1KG_AMR_AF,PNPT1
437471,2:55907721:G>A,55907721,NM_033109.4,NM_033109.4:c.565+126C>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.496,0.0041,1KG_SAS_AF,PNPT1
437472,2:55907743:G>C,55907743,NM_033109.4,NM_033109.4:c.565+104C>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.291,\N,\N,PNPT1
437473,2:55907757:G>A,55907757,NM_033109.4,NM_033109.4:c.565+90C>T,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.114,0.0716,1KG_SAS_AF,PNPT1
437474,2:55907767:C>G,55907767,NM_033109.4,NM_033109.4:c.565+80G>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.04,\N,\N,PNPT1
437475,2:55907795:T>TA,55907795,NM_033109.4,NM_033109.4:c.565+51dup,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437476,2:55907796:A>G,55907796,NM_033109.4,NM_033109.4:c.565+51T>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.584,0.0000866852,EXAC_AMR_AF,PNPT1
437477,2:55907798:T>C,55907798,NM_033109.4,NM_033109.4:c.565+49A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.674,0.00011636,EXAC_EAS_AF,PNPT1
437478,2:55907799:G>GA,55907799,NM_033109.4,NM_033109.4:c.565+47dup,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.388,0.0414769,EXAC_SAS_AF,PNPT1
437479,2:55907799:GA>G,55907799,NM_033109.4,NM_033109.4:c.565+47del,\N,\N,\N,7/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.695,0.0210526,EXAC_OTH_AF,PNPT1
437480,2:55907805:A>C,55907805,NM_033109.4,NM_033109.4:c.565+42T>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.462,0.0000150798,EXAC_NFE_AF,PNPT1
437481,2:55907812:C>T,55907812,NM_033109.4,NM_033109.4:c.565+35G>A,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.979,0.0000150798,EXAC_NFE_AF,PNPT1
437482,2:55907814:CAT>C,55907814,NM_033109.4,NM_033109.4:c.565+31_565+32del,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.659,0.0000904486,EXAC_NFE_AF,PNPT1
437483,2:55907816:T>C,55907816,NM_033109.4,NM_033109.4:c.565+31A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.785,0.000227583,EVS_AA_AF,PNPT1
437484,2:55907823:T>A,55907823,NM_033109.4,NM_033109.4:c.565+24A>T,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.692,0.000101585,EXAC_AFR_AF,PNPT1
437485,2:55907825:T>C,55907825,NM_033109.4,NM_033109.4:c.565+22A>G,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.199,0.0000150566,EXAC_NFE_AF,PNPT1
437486,2:55907835:A>G,55907835,NM_033109.4,NM_033109.4:c.565+12T>C,\N,\N,\N,7/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.76,0.000682439,EVS_AA_AF,PNPT1
437487,2:55907844:T>C,55907844,NM_033109.4,NM_033109.4:c.565+3A>G,\N,\N,\N,7/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.49,0.0008,1KG_AFR_AF,PNPT1
437488,2:55907848:A>G,55907848,NM_033109.4,NM_033109.4:c.564T>C,NP_149100.2:p.Val188=,188,7/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,14.84,0.0000150299,EXAC_NFE_AF,PNPT1
437489,2:55907865:G>A,55907865,NM_033109.4,NM_033109.4:c.547C>T,NP_149100.2:p.Pro183Ser,183,7/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,0.000100969,EXAC_AFR_AF,PNPT1
437490,2:55907872:T>G,55907872,NM_033109.4,NM_033109.4:c.540A>C,NP_149100.2:p.Ser180=,180,7/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.37,0.000015024,EXAC_NFE_AF,PNPT1
437491,2:55907873:G>C,55907873,NM_033109.4,NM_033109.4:c.539C>G,NP_149100.2:p.Ser180Ter,180,7/28,\N,Unknown significance,\N,stop_gained,HIGH,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,39,0.000015024,EXAC_NFE_AF,PNPT1
437492,2:55907878:T>C,55907878,NM_033109.4,NM_033109.4:c.534A>G,NP_149100.2:p.Ser178=,178,7/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.981,0.00127168,EXAC_EAS_AF,PNPT1
437493,2:55907881:G>A,55907881,NM_033109.4,NM_033109.4:c.531C>T,NP_149100.2:p.Leu177=,177,7/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.586,0.00010101,EXAC_AFR_AF,PNPT1
437494,2:55907885:G>A,55907885,NM_033109.4,NM_033109.4:c.527C>T,NP_149100.2:p.Ala176Val,176,7/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,26.3,0.001,1KG_SAS_AF,PNPT1
437495,2:55907887:T>C,55907887,NM_033109.4,NM_033109.4:c.525A>G,NP_149100.2:p.Val175=,175,7/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.14,0.00011558,EXAC_EAS_AF,PNPT1
437496,2:55907889:C>A,55907889,NM_033109.4,NM_033109.4:c.523G>T,NP_149100.2:p.Val175Leu,175,7/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,23.6,0.000060584,EXAC_SAS_AF,PNPT1
437497,2:55907889:C>T,55907889,NM_033109.4,NM_033109.4:c.523G>A,NP_149100.2:p.Val175Ile,175,7/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,23.5,0.000060584,EXAC_SAS_AF,PNPT1
437498,2:55907890:G>A,55907890,NM_033109.4,NM_033109.4:c.522C>T,NP_149100.2:p.Ser174=,174,7/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.17,0.000116306,EVS_EA_AF,PNPT1
437499,2:55907893:A>G,55907893,NM_033109.4,NM_033109.4:c.519T>C,NP_149100.2:p.Ala173=,173,7/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,9.289,0.0000150394,EXAC_NFE_AF,PNPT1
437500,2:55907897:T>TA,55907897,NM_033109.4,NM_033109.4:c.518-4dup,\N,\N,\N,6/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,4.386,\N,\N,PNPT1
437501,2:55907920:C>T,55907920,NM_033109.4,NM_033109.4:c.518-26G>A,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.749,\N,\N,PNPT1
437502,2:55907921:G>A,55907921,NM_033109.4,NM_033109.4:c.518-27C>T,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.063,0.0008,1KG_AFR_AF,PNPT1
437503,2:55907927:A>G,55907927,NM_033109.4,NM_033109.4:c.518-33T>C,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.925,0.0000866101,EXAC_AMR_AF,PNPT1
437504,2:55907932:T>C,55907932,NM_033109.4,NM_033109.4:c.518-38A>G,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.357,0.000116387,EXAC_EAS_AF,PNPT1
437505,2:55907933:T>G,55907933,NM_033109.4,NM_033109.4:c.518-39A>C,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.422,0.0000151727,EXAC_NFE_AF,PNPT1
437506,2:55907937:T>A,55907937,NM_033109.4,NM_033109.4:c.518-43A>T,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.52,0.000102522,EXAC_AFR_AF,PNPT1
437507,2:55907947:A>C,55907947,NM_033109.4,NM_033109.4:c.517+43T>G,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.286,0.0000865951,EXAC_AMR_AF,PNPT1
437508,2:55907950:T>A,55907950,NM_033109.4,NM_033109.4:c.517+40A>T,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.097,0.0000152272,EXAC_NFE_AF,PNPT1
437509,2:55907950:T>G,55907950,NM_033109.4,NM_033109.4:c.517+40A>C,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.17,0.0000152272,EXAC_NFE_AF,PNPT1
437510,2:55907951:T>G,55907951,NM_033109.4,NM_033109.4:c.517+39A>C,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.878,0.000116523,EXAC_EAS_AF,PNPT1
437511,2:55907962:T>A,55907962,NM_033109.4,NM_033109.4:c.517+28A>T,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.989,0.0000151635,EXAC_NFE_AF,PNPT1
437512,2:55907964:AT>A,55907964,NM_033109.4,NM_033109.4:c.517+25del,\N,\N,\N,6/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.694,0.0000151534,EXAC_NFE_AF,PNPT1
437513,2:55907983:T>A,55907983,NM_033109.4,NM_033109.4:c.517+7A>T,\N,\N,\N,6/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.02,0.00011636,EVS_EA_AF,PNPT1
437514,2:55907990:C>T,55907990,NM_033109.4,NM_033109.4:c.517G>A,NP_149100.2:p.Ala173Thr,173,6/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.000787497,EXAC_SAS_AF,PNPT1
437515,2:55907991:G>A,55907991,NM_033109.4,NM_033109.4:c.516C>T,NP_149100.2:p.Gly172=,172,6/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,15.65,0.000116306,EVS_EA_AF,PNPT1
437516,2:55907999:T>A,55907999,NM_033109.4,NM_033109.4:c.508A>T,NP_149100.2:p.Ile170Phe,170,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.5,0.000121153,EXAC_SAS_AF,PNPT1
437517,2:55907999:T>C,55907999,NM_033109.4,NM_033109.4:c.508A>G,NP_149100.2:p.Ile170Val,170,6/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,14.12,0.0000605767,EXAC_SAS_AF,PNPT1
437518,2:55908006:G>C,55908006,NM_033109.4,NM_033109.4:c.501C>G,NP_149100.2:p.Val167=,167,6/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.657,0.0000605767,EXAC_SAS_AF,PNPT1
437519,2:55908014:G>A,55908014,NM_033109.4,NM_033109.4:c.493C>T,NP_149100.2:p.Pro165Ser,165,6/28,\N,Likely pathogenic,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.8,0.000255555,EXAC_NFE_AF,PNPT1
437520,2:55908015:C>T,55908015,NM_033109.4,NM_033109.4:c.492G>A,NP_149100.2:p.Glu164=,164,6/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,14.25,0.000116279,EVS_EA_AF,PNPT1
437521,2:55908019:T>C,55908019,NM_033109.4,NM_033109.4:c.488A>G,NP_149100.2:p.Asn163Ser,163,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,18.26,0.0000605767,EXAC_SAS_AF,PNPT1
437522,2:55908025:C>A,55908025,NM_033109.4,NM_033109.4:c.482G>T,NP_149100.2:p.Gly161Val,161,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.000226963,EVS_AA_AF,PNPT1
437523,2:55908031:A>G,55908031,NM_033109.4,NM_033109.4:c.476T>C,NP_149100.2:p.Val159Ala,159,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,20.9,0.0000150358,EXAC_NFE_AF,PNPT1
437524,2:55908034:G>A,55908034,NM_033109.4,NM_033109.4:c.473C>T,NP_149100.2:p.Ala158Val,158,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,0.000015039,EXAC_NFE_AF,PNPT1
437525,2:55908035:C>A,55908035,NM_033109.4,NM_033109.4:c.472G>T,NP_149100.2:p.Ala158Ser,158,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,23.3,0.0002,EXAC_AFR_AF,PNPT1
437526,2:55908037:A>G,55908037,NM_033109.4,NM_033109.4:c.470T>C,NP_149100.2:p.Leu157Ser,157,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,0.000116279,EVS_EA_AF,PNPT1
437527,2:55908040:A>T,55908040,NM_033109.4,NM_033109.4:c.467T>A,NP_149100.2:p.Leu156Gln,156,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.4,0.0008,1KG_AFR_AF,PNPT1
437528,2:55908041:G>C,55908041,NM_033109.4,NM_033109.4:c.466C>G,NP_149100.2:p.Leu156Val,156,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,16.92,0.0000864902,EXAC_AMR_AF,PNPT1
437529,2:55908043:T>C,55908043,NM_033109.4,NM_033109.4:c.464A>G,NP_149100.2:p.Asn155Ser,155,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,20.2,0.000756201,EXAC_FIN_AF,PNPT1
437530,2:55908049:A>C,55908049,NM_033109.4,NM_033109.4:c.458T>G,NP_149100.2:p.Leu153Arg,153,6/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,26.4,0.000227066,EVS_AA_AF,PNPT1
437531,2:55908050:G>A,55908050,NM_033109.4,NM_033109.4:c.457C>T,NP_149100.2:p.Leu153=,153,6/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.37,0.001,1KG_EAS_AF,PNPT1
437532,2:55908057:GT>G,55908057,NM_033109.4,NM_033109.4:c.454-5del,\N,\N,\N,5/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,2.8,0.0000866551,EXAC_AMR_AF,PNPT1
437533,2:55908058:T>C,55908058,NM_033109.4,NM_033109.4:c.454-5A>G,\N,\N,\N,5/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,3.12,0.0000150798,EXAC_NFE_AF,PNPT1
437534,2:55908075:G>C,55908075,NM_033109.4,NM_033109.4:c.454-22C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.96,0.000101461,EXAC_AFR_AF,PNPT1
437535,2:55908080:G>C,55908080,NM_033109.4,NM_033109.4:c.454-27C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.22,0.0000151277,EXAC_NFE_AF,PNPT1
437536,2:55908083:A>G,55908083,NM_033109.4,NM_033109.4:c.454-30T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.74,0.0014,1KG_AMR_AF,PNPT1
437537,2:55908085:G>A,55908085,NM_033109.4,NM_033109.4:c.454-32C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.12,\N,\N,PNPT1
437538,2:55908086:G>T,55908086,NM_033109.4,NM_033109.4:c.454-33C>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.09,0.00001514,EXAC_NFE_AF,PNPT1
437539,2:55908090:T>A,55908090,NM_033109.4,NM_033109.4:c.454-37A>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,18.95,0.000115848,EXAC_EAS_AF,PNPT1
437540,2:55908091:C>A,55908091,NM_033109.4,NM_033109.4:c.454-38G>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,18.56,0.00111111,EXAC_OTH_AF,PNPT1
437541,2:55908105:T>G,55908105,NM_033109.4,NM_033109.4:c.454-52A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.68,0.0000608939,EXAC_NFE_AF,PNPT1
437542,2:55908126:C>G,55908126,NM_033109.4,NM_033109.4:c.454-73G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.63,0.001,1KG_SAS_AF,PNPT1
437543,2:55908128:C>G,55908128,NM_033109.4,NM_033109.4:c.454-75G>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.28,0.0189,1KG_EUR_AF,PNPT1
437544,2:55908145:G>A,55908145,NM_033109.4,NM_033109.4:c.454-92C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.63,\N,\N,PNPT1
437545,2:55908148:G>A,55908148,NM_033109.4,NM_033109.4:c.454-95C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.12,0.001,1KG_EAS_AF,PNPT1
437546,2:55908192:T>C,55908192,NM_033109.4,NM_033109.4:c.454-139A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.305,0.0045,1KG_AFR_AF,PNPT1
437547,2:55908204:G>A,55908204,NM_033109.4,NM_033109.4:c.454-151C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.759,0.001,1KG_EAS_AF,PNPT1
437548,2:55908204:G>C,55908204,NM_033109.4,NM_033109.4:c.454-151C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.346,\N,\N,PNPT1
437549,2:55908242:C>G,55908242,NM_033109.4,NM_033109.4:c.454-189G>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.715,0.0051,1KG_SAS_AF,PNPT1
437550,2:55908251:G>A,55908251,NM_033109.4,NM_033109.4:c.454-198C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.024,\N,\N,PNPT1
437551,2:55908267:C>T,55908267,NM_033109.4,NM_033109.4:c.454-214G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.848,0.0008,1KG_AFR_AF,PNPT1
437552,2:55908277:C>T,55908277,NM_033109.4,NM_033109.4:c.454-224G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.028,0.002,1KG_SAS_AF,PNPT1
437553,2:55908280:G>A,55908280,NM_033109.4,NM_033109.4:c.454-227C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.549,0.002,1KG_EAS_AF,PNPT1
437554,2:55908287:A>G,55908287,NM_033109.4,NM_033109.4:c.454-234T>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.4,0.0575,1KG_EAS_AF,PNPT1
437555,2:55908316:C>T,55908316,NM_033109.4,NM_033109.4:c.454-263G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.036,0.0023,1KG_AFR_AF,PNPT1
437556,2:55908317:G>C,55908317,NM_033109.4,NM_033109.4:c.454-264C>G,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.055,0.5239,1KG_EUR_AF,PNPT1
437557,2:55908328:G>A,55908328,NM_033109.4,NM_033109.4:c.454-275C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.565,\N,\N,PNPT1
437558,2:55908369:C>CT,55908369,NM_033109.4,NM_033109.4:c.454-317dup,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437559,2:55908374:G>A,55908374,NM_033109.4,NM_033109.4:c.454-321C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.26,0.0008,1KG_AFR_AF,PNPT1
437560,2:55908392:A>C,55908392,NM_033109.4,NM_033109.4:c.454-339T>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.61,0.0008,1KG_AFR_AF,PNPT1
437561,2:55908406:G>C,55908406,NM_033109.4,NM_033109.4:c.454-353C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.288,\N,\N,PNPT1
437562,2:55908407:T>C,55908407,NM_033109.4,NM_033109.4:c.454-354A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.091,\N,\N,PNPT1
437563,2:55908413:G>A,55908413,NM_033109.4,NM_033109.4:c.454-360C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.47,0.002,1KG_SAS_AF,PNPT1
437564,2:55908427:A>AG,55908427,NM_033109.4,NM_033109.4:c.454-375_454-374insC,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437565,2:55908428:A>G,55908428,NM_033109.4,NM_033109.4:c.454-375T>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.581,0.975,1KG_AFR_AF,PNPT1
437566,2:55908479:T>C,55908479,NM_033109.4,NM_033109.4:c.454-426A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.855,\N,\N,PNPT1
437567,2:55908499:G>A,55908499,NM_033109.4,NM_033109.4:c.454-446C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.717,0.001,1KG_EUR_AF,PNPT1
437568,2:55908503:T>C,55908503,NM_033109.4,NM_033109.4:c.454-450A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.376,\N,\N,PNPT1
437569,2:55908522:C>T,55908522,NM_033109.4,NM_033109.4:c.454-469G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.682,\N,\N,PNPT1
437570,2:55908540:T>C,55908540,NM_033109.4,NM_033109.4:c.454-487A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.03,\N,\N,PNPT1
437571,2:55908558:C>T,55908558,NM_033109.4,NM_033109.4:c.454-505G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.073,\N,\N,PNPT1
437572,2:55908559:G>A,55908559,NM_033109.4,NM_033109.4:c.454-506C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.246,\N,\N,PNPT1
437573,2:55908629:T>G,55908629,NM_033109.4,NM_033109.4:c.454-576A>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.701,0.975,1KG_AFR_AF,PNPT1
437574,2:55908636:C>A,55908636,NM_033109.4,NM_033109.4:c.454-583G>T,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.077,0.0144,1KG_AFR_AF,PNPT1
437575,2:55908640:G>A,55908640,NM_033109.4,NM_033109.4:c.454-587C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.296,0.001,1KG_EUR_AF,PNPT1
437576,2:55908643:T>G,55908643,NM_033109.4,NM_033109.4:c.454-590A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.09,\N,\N,PNPT1
437577,2:55908678:T>C,55908678,NM_033109.4,NM_033109.4:c.454-625A>G,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.31,0.0716,1KG_SAS_AF,PNPT1
437578,2:55908698:G>A,55908698,NM_033109.4,NM_033109.4:c.454-645C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.706,\N,\N,PNPT1
437579,2:55908745:C>T,55908745,NM_033109.4,NM_033109.4:c.454-692G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.543,0.0029,1KG_AMR_AF,PNPT1
437580,2:55908746:G>A,55908746,NM_033109.4,NM_033109.4:c.454-693C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.147,\N,\N,PNPT1
437581,2:55908770:G>A,55908770,NM_033109.4,NM_033109.4:c.454-717C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.401,0.0008,1KG_AFR_AF,PNPT1
437582,2:55908817:T>C,55908817,NM_033109.4,NM_033109.4:c.454-764A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.067,0.001,1KG_SAS_AF,PNPT1
437583,2:55908837:G>A,55908837,NM_033109.4,NM_033109.4:c.454-784C>T,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.103,0.0098,1KG_AFR_AF,PNPT1
437584,2:55908840:C>T,55908840,NM_033109.4,NM_033109.4:c.454-787G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.243,\N,\N,PNPT1
437585,2:55908841:G>A,55908841,NM_033109.4,NM_033109.4:c.454-788C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.154,0.001,1KG_SAS_AF,PNPT1
437586,2:55908853:G>A,55908853,NM_033109.4,NM_033109.4:c.454-800C>T,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.582,0.3918,1KG_AFR_AF,PNPT1
437587,2:55908902:C>T,55908902,NM_033109.4,NM_033109.4:c.454-849G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.216,0.0023,1KG_AFR_AF,PNPT1
437588,2:55908908:G>A,55908908,NM_033109.4,NM_033109.4:c.454-855C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.559,\N,\N,PNPT1
437589,2:55908921:G>A,55908921,NM_033109.4,NM_033109.4:c.454-868C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.154,0.001,1KG_EAS_AF,PNPT1
437590,2:55908933:C>T,55908933,NM_033109.4,NM_033109.4:c.454-880G>A,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.288,0.0197,1KG_AFR_AF,PNPT1
437591,2:55908936:G>A,55908936,NM_033109.4,NM_033109.4:c.454-883C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.138,0.0031,1KG_SAS_AF,PNPT1
437592,2:55908979:C>CA,55908979,NM_033109.4,NM_033109.4:c.454-927dup,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.374,0.7316,1KG_EUR_AF,PNPT1
437593,2:55909004:C>T,55909004,NM_033109.4,NM_033109.4:c.454-951G>A,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.238,0.0068,1KG_AFR_AF,PNPT1
437594,2:55909024:C>T,55909024,NM_033109.4,NM_033109.4:c.454-971G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.419,0.001,1KG_SAS_AF,PNPT1
437595,2:55909027:A>G,55909027,NM_033109.4,NM_033109.4:c.454-974T>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.891,0.0098,1KG_AFR_AF,PNPT1
437596,2:55909059:G>A,55909059,NM_033109.4,NM_033109.4:c.454-1006C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.202,0.0008,1KG_AFR_AF,PNPT1
437597,2:55909067:G>T,55909067,NM_033109.4,NM_033109.4:c.454-1014C>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.54,\N,\N,PNPT1
437598,2:55909071:T>G,55909071,NM_033109.4,NM_033109.4:c.454-1018A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.825,\N,\N,PNPT1
437599,2:55909090:C>T,55909090,NM_033109.4,NM_033109.4:c.454-1037G>A,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.994,0.0716,1KG_SAS_AF,PNPT1
437600,2:55909105:T>C,55909105,NM_033109.4,NM_033109.4:c.454-1052A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.094,0.0008,1KG_AFR_AF,PNPT1
437601,2:55909132:G>C,55909132,NM_033109.4,NM_033109.4:c.454-1079C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.283,0.0031,1KG_SAS_AF,PNPT1
437602,2:55909137:G>A,55909137,NM_033109.4,NM_033109.4:c.454-1084C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.505,0.002,1KG_SAS_AF,PNPT1
437603,2:55909151:G>A,55909151,NM_033109.4,NM_033109.4:c.454-1098C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.924,0.0043,1KG_AMR_AF,PNPT1
437604,2:55909172:G>A,55909172,NM_033109.4,NM_033109.4:c.454-1119C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.637,0.001,1KG_SAS_AF,PNPT1
437605,2:55909188:T>G,55909188,NM_033109.4,NM_033109.4:c.454-1135A>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.828,1,1KG_EAS_AF|1KG_SAS_AF,PNPT1
437606,2:55909195:G>A,55909195,NM_033109.4,NM_033109.4:c.454-1142C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.357,0.0008,1KG_AFR_AF,PNPT1
437607,2:55909210:G>A,55909210,NM_033109.4,NM_033109.4:c.454-1157C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.175,0.001,1KG_EAS_AF,PNPT1
437608,2:55909233:G>A,55909233,NM_033109.4,NM_033109.4:c.454-1180C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.17,0.001,1KG_SAS_AF,PNPT1
437609,2:55909241:G>A,55909241,NM_033109.4,NM_033109.4:c.454-1188C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.402,0.001,1KG_SAS_AF,PNPT1
437610,2:55909252:T>C,55909252,NM_033109.4,NM_033109.4:c.454-1199A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.783,\N,\N,PNPT1
437611,2:55909254:G>C,55909254,NM_033109.4,NM_033109.4:c.454-1201C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.368,0.001,1KG_EUR_AF,PNPT1
437612,2:55909257:G>A,55909257,NM_033109.4,NM_033109.4:c.454-1204C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.555,0.0015,1KG_AFR_AF,PNPT1
437613,2:55909264:C>A,55909264,NM_033109.4,NM_033109.4:c.454-1211G>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.294,\N,\N,PNPT1
437614,2:55909264:C>T,55909264,NM_033109.4,NM_033109.4:c.454-1211G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.733,\N,\N,PNPT1
437615,2:55909288:C>G,55909288,NM_033109.4,NM_033109.4:c.454-1235G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.327,0.001,1KG_EUR_AF,PNPT1
437616,2:55909321:G>A,55909321,NM_033109.4,NM_033109.4:c.454-1268C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.365,0.0045,1KG_AFR_AF,PNPT1
437617,2:55909321:G>C,55909321,NM_033109.4,NM_033109.4:c.454-1268C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.152,0.003,1KG_EUR_AF,PNPT1
437618,2:55909325:A>G,55909325,NM_033109.4,NM_033109.4:c.454-1272T>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.172,0.9818,1KG_AFR_AF,PNPT1
437619,2:55909342:C>G,55909342,NM_033109.4,NM_033109.4:c.454-1289G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.127,\N,\N,PNPT1
437620,2:55909362:G>A,55909362,NM_033109.4,NM_033109.4:c.454-1309C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.647,0.001,1KG_EUR_AF,PNPT1
437621,2:55909367:C>T,55909367,NM_033109.4,NM_033109.4:c.454-1314G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.281,0.0014,1KG_AMR_AF,PNPT1
437622,2:55909368:G>A,55909368,NM_033109.4,NM_033109.4:c.454-1315C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.342,\N,\N,PNPT1
437623,2:55909412:G>T,55909412,NM_033109.4,NM_033109.4:c.454-1359C>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.376,\N,\N,PNPT1
437624,2:55909429:T>C,55909429,NM_033109.4,NM_033109.4:c.454-1376A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.533,0.001,1KG_EAS_AF,PNPT1
437625,2:55909433:A>AC,55909433,NM_033109.4,NM_033109.4:c.454-1381_454-1380insG,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437626,2:55909436:C>G,55909436,NM_033109.4,NM_033109.4:c.454-1383G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.268,\N,\N,PNPT1
437627,2:55909496:G>T,55909496,NM_033109.4,NM_033109.4:c.453+1424C>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.437,0.0029,1KG_AMR_AF,PNPT1
437628,2:55909509:T>C,55909509,NM_033109.4,NM_033109.4:c.453+1411A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.322,\N,\N,PNPT1
437629,2:55909515:G>C,55909515,NM_033109.4,NM_033109.4:c.453+1405C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.264,\N,\N,PNPT1
437630,2:55909533:T>C,55909533,NM_033109.4,NM_033109.4:c.453+1387A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.254,0.001,1KG_EAS_AF,PNPT1
437631,2:55909549:T>C,55909549,NM_033109.4,NM_033109.4:c.453+1371A>G,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.231,0.3036,1KG_EAS_AF,PNPT1
437632,2:55909576:A>G,55909576,NM_033109.4,NM_033109.4:c.453+1344T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.86,\N,\N,PNPT1
437633,2:55909595:C>CA,55909595,NM_033109.4,NM_033109.4:c.453+1324dup,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437634,2:55909608:T>A,55909608,NM_033109.4,NM_033109.4:c.453+1312A>T,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.559,0.0069,1KG_EAS_AF,PNPT1
437635,2:55909610:T>A,55909610,NM_033109.4,NM_033109.4:c.453+1310A>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.573,\N,\N,PNPT1
437636,2:55909616:T>A,55909616,NM_033109.4,NM_033109.4:c.453+1304A>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.17,0.0014,1KG_AMR_AF,PNPT1
437637,2:55909642:T>A,55909642,NM_033109.4,NM_033109.4:c.453+1278A>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.2,0.001,1KG_EAS_AF,PNPT1
437638,2:55909654:G>A,55909654,NM_033109.4,NM_033109.4:c.453+1266C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.849,0.003,1KG_EUR_AF,PNPT1
437639,2:55909670:C>T,55909670,NM_033109.4,NM_033109.4:c.453+1250G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.762,0.001,1KG_SAS_AF,PNPT1
437640,2:55909687:T>C,55909687,NM_033109.4,NM_033109.4:c.453+1233A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.205,0.001,1KG_SAS_AF,PNPT1
437641,2:55909723:A>C,55909723,NM_033109.4,NM_033109.4:c.453+1197T>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.554,0.001,1KG_EAS_AF,PNPT1
437642,2:55909730:T>C,55909730,NM_033109.4,NM_033109.4:c.453+1190A>G,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.933,0.0706,1KG_AMR_AF,PNPT1
437643,2:55909755:T>G,55909755,NM_033109.4,NM_033109.4:c.453+1165A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.407,\N,\N,PNPT1
437644,2:55909765:G>C,55909765,NM_033109.4,NM_033109.4:c.453+1155C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.016,\N,\N,PNPT1
437645,2:55909773:T>C,55909773,NM_033109.4,NM_033109.4:c.453+1147A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.001,\N,\N,PNPT1
437646,2:55909822:C>G,55909822,NM_033109.4,NM_033109.4:c.453+1098G>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.038,0.0234,1KG_AFR_AF,PNPT1
437647,2:55909837:G>C,55909837,NM_033109.4,NM_033109.4:c.453+1083C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.354,\N,\N,PNPT1
437648,2:55909840:C>G,55909840,NM_033109.4,NM_033109.4:c.453+1080G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.27,\N,\N,PNPT1
437649,2:55909860:T>C,55909860,NM_033109.4,NM_033109.4:c.453+1060A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.513,\N,\N,PNPT1
437650,2:55909938:G>C,55909938,NM_033109.4,NM_033109.4:c.453+982C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.566,0.0014,1KG_AMR_AF,PNPT1
437651,2:55909960:CTT>C,55909960,NM_033109.4,NM_033109.4:c.453+958_453+959del,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437652,2:55909971:G>A,55909971,NM_033109.4,NM_033109.4:c.453+949C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.411,\N,\N,PNPT1
437653,2:55909984:C>T,55909984,NM_033109.4,NM_033109.4:c.453+936G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.37,0.001,1KG_EAS_AF,PNPT1
437654,2:55909991:G>C,55909991,NM_033109.4,NM_033109.4:c.453+929C>G,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.017,0.9932,1KG_AFR_AF,PNPT1
437655,2:55910008:G>C,55910008,NM_033109.4,NM_033109.4:c.453+912C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.111,\N,\N,PNPT1
437656,2:55910011:C>A,55910011,NM_033109.4,NM_033109.4:c.453+909G>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.027,0.001,1KG_EAS_AF,PNPT1
437657,2:55910016:G>A,55910016,NM_033109.4,NM_033109.4:c.453+904C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.643,\N,\N,PNPT1
437658,2:55910022:G>A,55910022,NM_033109.4,NM_033109.4:c.453+898C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.039,\N,\N,PNPT1
437659,2:55910066:C>A,55910066,NM_033109.4,NM_033109.4:c.453+854G>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.483,0.0008,1KG_AFR_AF,PNPT1
437660,2:55910098:A>G,55910098,NM_033109.4,NM_033109.4:c.453+822T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.86,\N,\N,PNPT1
437661,2:55910103:A>G,55910103,NM_033109.4,NM_033109.4:c.453+817T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.219,\N,\N,PNPT1
437662,2:55910106:T>C,55910106,NM_033109.4,NM_033109.4:c.453+814A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.644,\N,\N,PNPT1
437663,2:55910119:TTTA>T,55910119,NM_033109.4,NM_033109.4:c.453+798_453+800del,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437664,2:55910204:T>C,55910204,NM_033109.4,NM_033109.4:c.453+716A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.604,\N,\N,PNPT1
437665,2:55910209:T>C,55910209,NM_033109.4,NM_033109.4:c.453+711A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.366,\N,\N,PNPT1
437666,2:55910214:T>G,55910214,NM_033109.4,NM_033109.4:c.453+706A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.073,\N,\N,PNPT1
437667,2:55910229:T>C,55910229,NM_033109.4,NM_033109.4:c.453+691A>G,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.584,0.0112,1KG_SAS_AF,PNPT1
437668,2:55910234:C>A,55910234,NM_033109.4,NM_033109.4:c.453+686G>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.613,\N,\N,PNPT1
437669,2:55910245:G>C,55910245,NM_033109.4,NM_033109.4:c.453+675C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.905,\N,\N,PNPT1
437670,2:55910250:T>G,55910250,NM_033109.4,NM_033109.4:c.453+670A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.038,0.001,1KG_EUR_AF,PNPT1
437671,2:55910262:A>C,55910262,NM_033109.4,NM_033109.4:c.453+658T>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.242,0.001,1KG_EUR_AF,PNPT1
437672,2:55910265:T>G,55910265,NM_033109.4,NM_033109.4:c.453+655A>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.799,0.0083,1KG_AFR_AF,PNPT1
437673,2:55910276:A>C,55910276,NM_033109.4,NM_033109.4:c.453+644T>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.9,\N,\N,PNPT1
437674,2:55910314:G>A,55910314,NM_033109.4,NM_033109.4:c.453+606C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.335,0.0008,1KG_AFR_AF,PNPT1
437675,2:55910352:C>G,55910352,NM_033109.4,NM_033109.4:c.453+568G>C,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.373,0.0129,1KG_EUR_AF,PNPT1
437676,2:55910356:G>A,55910356,NM_033109.4,NM_033109.4:c.453+564C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.799,0.001,1KG_EUR_AF,PNPT1
437677,2:55910365:A>G,55910365,NM_033109.4,NM_033109.4:c.453+555T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,17.58,\N,\N,PNPT1
437678,2:55910366:T>C,55910366,NM_033109.4,NM_033109.4:c.453+554A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.63,0.003,1KG_AFR_AF,PNPT1
437679,2:55910385:G>C,55910385,NM_033109.4,NM_033109.4:c.453+535C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.96,\N,\N,PNPT1
437680,2:55910396:T>C,55910396,NM_033109.4,NM_033109.4:c.453+524A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.86,\N,\N,PNPT1
437681,2:55910426:A>T,55910426,NM_033109.4,NM_033109.4:c.453+494T>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.956,0.001,1KG_SAS_AF,PNPT1
437682,2:55910429:C>T,55910429,NM_033109.4,NM_033109.4:c.453+491G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.828,0.0008,1KG_AFR_AF,PNPT1
437683,2:55910475:C>G,55910475,NM_033109.4,NM_033109.4:c.453+445G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.106,\N,\N,PNPT1
437684,2:55910487:C>T,55910487,NM_033109.4,NM_033109.4:c.453+433G>A,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.248,0.0112,1KG_SAS_AF,PNPT1
437685,2:55910488:G>A,55910488,NM_033109.4,NM_033109.4:c.453+432C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.48,0.001,1KG_SAS_AF,PNPT1
437686,2:55910515:C>T,55910515,NM_033109.4,NM_033109.4:c.453+405G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.591,\N,\N,PNPT1
437687,2:55910517:A>AG,55910517,NM_033109.4,NM_033109.4:c.453+402dup,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.384,0.0083,1KG_AFR_AF,PNPT1
437688,2:55910518:G>A,55910518,NM_033109.4,NM_033109.4:c.453+402C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.541,0.001,1KG_SAS_AF,PNPT1
437689,2:55910520:G>C,55910520,NM_033109.4,NM_033109.4:c.453+400C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.061,\N,\N,PNPT1
437690,2:55910524:C>T,55910524,NM_033109.4,NM_033109.4:c.453+396G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.38,0.001,1KG_EAS_AF,PNPT1
437691,2:55910525:G>A,55910525,NM_033109.4,NM_033109.4:c.453+395C>T,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.238,0.0051,1KG_SAS_AF,PNPT1
437692,2:55910539:G>A,55910539,NM_033109.4,NM_033109.4:c.453+381C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.779,0.004,1KG_EAS_AF,PNPT1
437693,2:55910545:C>G,55910545,NM_033109.4,NM_033109.4:c.453+375G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.875,0.0008,1KG_AFR_AF,PNPT1
437694,2:55910581:C>T,55910581,NM_033109.4,NM_033109.4:c.453+339G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.039,0.001,1KG_EAS_AF,PNPT1
437695,2:55910583:A>G,55910583,NM_033109.4,NM_033109.4:c.453+337T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.31,\N,\N,PNPT1
437696,2:55910587:A>C,55910587,NM_033109.4,NM_033109.4:c.453+333T>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.213,\N,\N,PNPT1
437697,2:55910587:A>G,55910587,NM_033109.4,NM_033109.4:c.453+333T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.287,0.0015,1KG_AFR_AF,PNPT1
437698,2:55910614:G>A,55910614,NM_033109.4,NM_033109.4:c.453+306C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.731,0.001,1KG_SAS_AF,PNPT1
437699,2:55910619:G>A,55910619,NM_033109.4,NM_033109.4:c.453+301C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.883,0.001,1KG_EAS_AF,PNPT1
437700,2:55910638:C>T,55910638,NM_033109.4,NM_033109.4:c.453+282G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.51,0.001,1KG_SAS_AF,PNPT1
437701,2:55910658:G>T,55910658,NM_033109.4,NM_033109.4:c.453+262C>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.36,0.0008,1KG_AFR_AF,PNPT1
437702,2:55910660:A>T,55910660,NM_033109.4,NM_033109.4:c.453+260T>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.9,\N,\N,PNPT1
437703,2:55910663:A>G,55910663,NM_033109.4,NM_033109.4:c.453+257T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.51,\N,\N,PNPT1
437704,2:55910672:T>C,55910672,NM_033109.4,NM_033109.4:c.453+248A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.935,\N,\N,PNPT1
437705,2:55910674:G>A,55910674,NM_033109.4,NM_033109.4:c.453+246C>T,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.761,0.0348,1KG_AFR_AF,PNPT1
437706,2:55910675:G>A,55910675,NM_033109.4,NM_033109.4:c.453+245C>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.917,0.001,1KG_EUR_AF,PNPT1
437707,2:55910686:T>C,55910686,NM_033109.4,NM_033109.4:c.453+234A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.905,\N,\N,PNPT1
437708,2:55910702:C>T,55910702,NM_033109.4,NM_033109.4:c.453+218G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.738,0.0038,1KG_AFR_AF,PNPT1
437709,2:55910710:T>C,55910710,NM_033109.4,NM_033109.4:c.453+210A>G,\N,\N,\N,5/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.666,0.3949,1KG_AFR_AF,PNPT1
437710,2:55910747:C>CA,55910747,NM_033109.4,NM_033109.4:c.453+172dup,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.095,\N,\N,PNPT1
437711,2:55910756:A>T,55910756,NM_033109.4,NM_033109.4:c.453+164T>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.909,\N,\N,PNPT1
437712,2:55910772:A>G,55910772,NM_033109.4,NM_033109.4:c.453+148T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.707,\N,\N,PNPT1
437713,2:55910786:A>C,55910786,NM_033109.4,NM_033109.4:c.453+134T>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.638,0.001,1KG_EUR_AF,PNPT1
437714,2:55910787:C>G,55910787,NM_033109.4,NM_033109.4:c.453+133G>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.013,\N,\N,PNPT1
437715,2:55910787:C>T,55910787,NM_033109.4,NM_033109.4:c.453+133G>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.79,\N,\N,PNPT1
437716,2:55910795:A>C,55910795,NM_033109.4,NM_033109.4:c.453+125T>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.675,0.001,1KG_EUR_AF,PNPT1
437717,2:55910826:G>C,55910826,NM_033109.4,NM_033109.4:c.453+94C>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.313,0.001,1KG_EUR_AF,PNPT1
437718,2:55910851:A>T,55910851,NM_033109.4,NM_033109.4:c.453+69T>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.499,0.001,1KG_EUR_AF,PNPT1
437719,2:55910868:T>G,55910868,NM_033109.4,NM_033109.4:c.453+52A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.488,\N,\N,PNPT1
437720,2:55910871:A>G,55910871,NM_033109.4,NM_033109.4:c.453+49T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.719,0.001,1KG_EUR_AF,PNPT1
437721,2:55910877:T>C,55910877,NM_033109.4,NM_033109.4:c.453+43A>G,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.014,0.0000610724,EXAC_SAS_AF,PNPT1
437722,2:55910881:G>T,55910881,NM_033109.4,NM_033109.4:c.453+39C>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.907,0.0000453391,EXAC_NFE_AF,PNPT1
437723,2:55910888:C>A,55910888,NM_033109.4,NM_033109.4:c.453+32G>T,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.454,\N,\N,PNPT1
437724,2:55910896:T>G,55910896,NM_033109.4,NM_033109.4:c.453+24A>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.414,0.0000601974,EXAC_NFE_AF,PNPT1
437725,2:55910897:A>G,55910897,NM_033109.4,NM_033109.4:c.453+23T>C,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.288,0.000015048,EXAC_NFE_AF,PNPT1
437726,2:55910905:TA>T,55910905,NM_033109.4,NM_033109.4:c.453+14del,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,17.17,0.000115794,EXAC_EAS_AF,PNPT1
437727,2:55910907:A>T,55910907,NM_033109.4,NM_033109.4:c.453+13T>A,\N,\N,\N,5/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.07,0.000115848,EXAC_EAS_AF,PNPT1
437728,2:55910915:T>G,55910915,NM_033109.4,NM_033109.4:c.453+5A>C,\N,\N,\N,5/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.52,0.0000150159,EXAC_NFE_AF,PNPT1
437729,2:55910925:T>C,55910925,NM_033109.4,NM_033109.4:c.448A>G,NP_149100.2:p.Thr150Ala,150,5/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,26.7,0.000483279,EXAC_AFR_AF,PNPT1
437730,2:55910930:T>C,55910930,NM_033109.4,NM_033109.4:c.443A>G,NP_149100.2:p.Tyr148Cys,148,5/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,22.5,0.00011566,EXAC_EAS_AF,PNPT1
437731,2:55910943:C>T,55910943,NM_033109.4,NM_033109.4:c.430G>A,NP_149100.2:p.Ala144Thr,144,5/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,22.5,0.0000966184,EXAC_AFR_AF,PNPT1
437732,2:55910944:T>C,55910944,NM_033109.4,NM_033109.4:c.429A>G,NP_149100.2:p.Pro143=,143,5/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.945,0.0000150024,EXAC_NFE_AF,PNPT1
437733,2:55910950:G>A,55910950,NM_033109.4,NM_033109.4:c.423C>T,NP_149100.2:p.Leu141=,141,5/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.55,0.0000864902,EXAC_AMR_AF,PNPT1
437734,2:55910954:G>A,55910954,NM_033109.4,NM_033109.4:c.419C>T,NP_149100.2:p.Pro140Leu,140,5/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.001,1KG_EAS_AF,PNPT1
437735,2:55910955:G>A,55910955,NM_033109.4,NM_033109.4:c.418C>T,NP_149100.2:p.Pro140Ser,140,5/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.3,0.000691922,EXAC_AMR_AF,PNPT1
437736,2:55910961:T>C,55910961,NM_033109.4,NM_033109.4:c.412A>G,NP_149100.2:p.Ile138Val,138,5/28,\N,Benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,16.98,0.0091,1KG_AFR_AF,PNPT1
437737,2:55910966:C>G,55910966,NM_033109.4,NM_033109.4:c.407G>C,NP_149100.2:p.Arg136Pro,136,5/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,35,0.000193836,EXAC_AFR_AF,PNPT1
437738,2:55910966:C>T,55910966,NM_033109.4,NM_033109.4:c.407G>A,NP_149100.2:p.Arg136His,136,5/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,35,0.00017304,EXAC_AMR_AF,PNPT1
437739,2:55910967:G>A,55910967,NM_033109.4,NM_033109.4:c.406C>T,NP_149100.2:p.Arg136Cys,136,5/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,34,0.000015015,EXAC_NFE_AF,PNPT1
437740,2:55910969:T>A,55910969,NM_033109.4,NM_033109.4:c.404A>T,NP_149100.2:p.Asp135Val,135,5/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,32,0.000232558,EVS_EA_AF,PNPT1
437741,2:55910970:C>T,55910970,NM_033109.4,NM_033109.4:c.404-1G>A,\N,\N,\N,4/27,Unknown significance,VARIANT OF UNKNOWN SIGNIFICANCE,splice_acceptor_variant,HIGH,\N,\N,27.2,\N,\N,PNPT1
437742,2:55910979:G>GA,55910979,NM_033109.4,NM_033109.4:c.404-11dup,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.17,\N,\N,PNPT1
437743,2:55910979:GA>G,55910979,NM_033109.4,NM_033109.4:c.404-11del,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.89,\N,\N,PNPT1
437744,2:55910980:A>G,55910980,NM_033109.4,NM_033109.4:c.404-11T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.13,0.001,1KG_SAS_AF,PNPT1
437745,2:55910988:A>AT,55910988,NM_033109.4,NM_033109.4:c.404-20_404-19insA,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.34,0.0000150503,EXAC_NFE_AF,PNPT1
437746,2:55910988:A>C,55910988,NM_033109.4,NM_033109.4:c.404-19T>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.996,0.0000150503,EXAC_NFE_AF,PNPT1
437747,2:55910988:A>G,55910988,NM_033109.4,NM_033109.4:c.404-19T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.309,0.000433351,EXAC_AMR_AF,PNPT1
437748,2:55910989:C>T,55910989,NM_033109.4,NM_033109.4:c.404-20G>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.589,0.000433426,EXAC_AMR_AF,PNPT1
437749,2:55910994:T>C,55910994,NM_033109.4,NM_033109.4:c.404-25A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.659,0.0000979048,EXAC_AFR_AF,PNPT1
437750,2:55910999:C>T,55910999,NM_033109.4,NM_033109.4:c.404-30G>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.863,0.000233536,EXAC_EAS_AF,PNPT1
437751,2:55911000:G>A,55911000,NM_033109.4,NM_033109.4:c.404-31C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.019,0.0008,1KG_AFR_AF,PNPT1
437752,2:55911001:T>A,55911001,NM_033109.4,NM_033109.4:c.404-32A>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.508,0.0000301414,EXAC_NFE_AF,PNPT1
437753,2:55911002:A>T,55911002,NM_033109.4,NM_033109.4:c.404-33T>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.722,0.000015072,EXAC_NFE_AF,PNPT1
437754,2:55911009:G>C,55911009,NM_033109.4,NM_033109.4:c.404-40C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.527,\N,\N,PNPT1
437755,2:55911011:G>C,55911011,NM_033109.4,NM_033109.4:c.404-42C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.786,0.000015098,EXAC_NFE_AF,PNPT1
437756,2:55911016:T>G,55911016,NM_033109.4,NM_033109.4:c.404-47A>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.232,0.0000151236,EXAC_NFE_AF,PNPT1
437757,2:55911018:T>C,55911018,NM_033109.4,NM_033109.4:c.404-49A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.931,0.000496032,EXAC_AFR_AF,PNPT1
437758,2:55911020:C>CTAA,55911020,NM_033109.4,NM_033109.4:c.404-52_404-51insTTA,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.145,0.0000610277,EXAC_SAS_AF,PNPT1
437759,2:55911021:A>G,55911021,NM_033109.4,NM_033109.4:c.404-52T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.268,0.000015175,EXAC_NFE_AF,PNPT1
437760,2:55911023:T>C,55911023,NM_033109.4,NM_033109.4:c.404-54A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.103,0.000722543,EVS_AA_AF,PNPT1
437761,2:55911044:T>A,55911044,NM_033109.4,NM_033109.4:c.404-75A>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.099,\N,\N,PNPT1
437762,2:55911058:A>G,55911058,NM_033109.4,NM_033109.4:c.404-89T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.626,\N,\N,PNPT1
437763,2:55911094:C>G,55911094,NM_033109.4,NM_033109.4:c.404-125G>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.316,0.0008,1KG_AFR_AF,PNPT1
437764,2:55911102:G>C,55911102,NM_033109.4,NM_033109.4:c.404-133C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.339,\N,\N,PNPT1
437765,2:55911110:T>A,55911110,NM_033109.4,NM_033109.4:c.404-141A>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.96,\N,\N,PNPT1
437766,2:55911114:T>C,55911114,NM_033109.4,NM_033109.4:c.404-145A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.952,0.0008,1KG_AFR_AF,PNPT1
437767,2:55911128:T>C,55911128,NM_033109.4,NM_033109.4:c.404-159A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.908,0.001,1KG_EAS_AF,PNPT1
437768,2:55911147:A>G,55911147,NM_033109.4,NM_033109.4:c.404-178T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.25,\N,\N,PNPT1
437769,2:55911149:C>G,55911149,NM_033109.4,NM_033109.4:c.404-180G>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.576,0.001,1KG_EUR_AF,PNPT1
437770,2:55911161:AAC>A,55911161,NM_033109.4,NM_033109.4:c.404-194_404-193del,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437771,2:55911191:T>C,55911191,NM_033109.4,NM_033109.4:c.404-222A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.988,0.001,1KG_EUR_AF,PNPT1
437772,2:55911217:C>G,55911217,NM_033109.4,NM_033109.4:c.404-248G>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.099,\N,\N,PNPT1
437773,2:55911227:C>A,55911227,NM_033109.4,NM_033109.4:c.404-258G>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.231,\N,\N,PNPT1
437774,2:55911315:G>A,55911315,NM_033109.4,NM_033109.4:c.404-346C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.512,\N,\N,PNPT1
437775,2:55911318:T>C,55911318,NM_033109.4,NM_033109.4:c.404-349A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.615,\N,\N,PNPT1
437776,2:55911335:T>G,55911335,NM_033109.4,NM_033109.4:c.404-366A>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.128,\N,\N,PNPT1
437777,2:55911350:G>A,55911350,NM_033109.4,NM_033109.4:c.404-381C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.927,0.0014,1KG_AMR_AF,PNPT1
437778,2:55911351:A>G,55911351,NM_033109.4,NM_033109.4:c.404-382T>C,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.963,0.9728,1KG_AFR_AF,PNPT1
437779,2:55911359:G>A,55911359,NM_033109.4,NM_033109.4:c.404-390C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.675,\N,\N,PNPT1
437780,2:55911365:C>T,55911365,NM_033109.4,NM_033109.4:c.404-396G>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.528,\N,\N,PNPT1
437781,2:55911366:G>A,55911366,NM_033109.4,NM_033109.4:c.404-397C>T,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.619,0.1247,1KG_SAS_AF,PNPT1
437782,2:55911369:T>G,55911369,NM_033109.4,NM_033109.4:c.404-400A>C,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.561,0.0112,1KG_SAS_AF,PNPT1
437783,2:55911396:G>GC,55911396,NM_033109.4,NM_033109.4:c.404-428dup,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.627,0.0045,1KG_AFR_AF,PNPT1
437784,2:55911411:G>C,55911411,NM_033109.4,NM_033109.4:c.404-442C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.085,0.001,1KG_EUR_AF,PNPT1
437785,2:55911425:G>A,55911425,NM_033109.4,NM_033109.4:c.404-456C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.238,\N,\N,PNPT1
437786,2:55911440:A>C,55911440,NM_033109.4,NM_033109.4:c.404-471T>G,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.262,0.9932,1KG_AFR_AF,PNPT1
437787,2:55911454:A>T,55911454,NM_033109.4,NM_033109.4:c.404-485T>A,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.212,0.2266,1KG_EUR_AF,PNPT1
437788,2:55911459:G>A,55911459,NM_033109.4,NM_033109.4:c.404-490C>T,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.165,0.3933,1KG_AFR_AF,PNPT1
437789,2:55911492:G>C,55911492,NM_033109.4,NM_033109.4:c.404-523C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.56,\N,\N,PNPT1
437790,2:55911501:T>C,55911501,NM_033109.4,NM_033109.4:c.404-532A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.186,0.0008,1KG_AFR_AF,PNPT1
437791,2:55911511:A>G,55911511,NM_033109.4,NM_033109.4:c.404-542T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.084,0.002,1KG_SAS_AF,PNPT1
437792,2:55911522:C>A,55911522,NM_033109.4,NM_033109.4:c.404-553G>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.871,0.0014,1KG_AMR_AF,PNPT1
437793,2:55911523:C>T,55911523,NM_033109.4,NM_033109.4:c.404-554G>A,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.279,0.0447,1KG_EUR_AF,PNPT1
437794,2:55911524:G>A,55911524,NM_033109.4,NM_033109.4:c.403+554C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.827,0.0008,1KG_AFR_AF,PNPT1
437795,2:55911525:G>A,55911525,NM_033109.4,NM_033109.4:c.403+553C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.967,\N,\N,PNPT1
437796,2:55911535:G>C,55911535,NM_033109.4,NM_033109.4:c.403+543C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.285,0.001,1KG_EAS_AF,PNPT1
437797,2:55911548:G>A,55911548,NM_033109.4,NM_033109.4:c.403+530C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.294,\N,\N,PNPT1
437798,2:55911566:T>C,55911566,NM_033109.4,NM_033109.4:c.403+512A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.542,\N,\N,PNPT1
437799,2:55911568:C>A,55911568,NM_033109.4,NM_033109.4:c.403+510G>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.289,\N,\N,PNPT1
437800,2:55911584:G>A,55911584,NM_033109.4,NM_033109.4:c.403+494C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.327,\N,\N,PNPT1
437801,2:55911588:G>C,55911588,NM_033109.4,NM_033109.4:c.403+490C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.41,0.0008,1KG_AFR_AF,PNPT1
437802,2:55911614:C>G,55911614,NM_033109.4,NM_033109.4:c.403+464G>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.137,\N,\N,PNPT1
437803,2:55911617:G>A,55911617,NM_033109.4,NM_033109.4:c.403+461C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.125,0.0029,1KG_AMR_AF,PNPT1
437804,2:55911654:T>C,55911654,NM_033109.4,NM_033109.4:c.403+424A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.383,0.0043,1KG_AMR_AF,PNPT1
437805,2:55911669:G>C,55911669,NM_033109.4,NM_033109.4:c.403+409C>G,\N,\N,\N,4/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.053,0.0068,1KG_AFR_AF,PNPT1
437806,2:55911680:T>C,55911680,NM_033109.4,NM_033109.4:c.403+398A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.453,\N,\N,PNPT1
437807,2:55911684:G>A,55911684,NM_033109.4,NM_033109.4:c.403+394C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.331,0.0015,1KG_AFR_AF,PNPT1
437808,2:55911689:T>G,55911689,NM_033109.4,NM_033109.4:c.403+389A>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.553,0.0015,1KG_AFR_AF,PNPT1
437809,2:55911691:T>C,55911691,NM_033109.4,NM_033109.4:c.403+387A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.009,0.002,1KG_SAS_AF,PNPT1
437810,2:55911694:C>T,55911694,NM_033109.4,NM_033109.4:c.403+384G>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.9,0.001,1KG_EAS_AF,PNPT1
437811,2:55911731:C>G,55911731,NM_033109.4,NM_033109.4:c.403+347G>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.614,\N,\N,PNPT1
437812,2:55911751:T>C,55911751,NM_033109.4,NM_033109.4:c.403+327A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.432,\N,\N,PNPT1
437813,2:55911775:G>C,55911775,NM_033109.4,NM_033109.4:c.403+303C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.022,\N,\N,PNPT1
437814,2:55911780:G>A,55911780,NM_033109.4,NM_033109.4:c.403+298C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.314,\N,\N,PNPT1
437815,2:55911822:G>C,55911822,NM_033109.4,NM_033109.4:c.403+256C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.467,0.003,1KG_EAS_AF,PNPT1
437816,2:55911831:T>C,55911831,NM_033109.4,NM_033109.4:c.403+247A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.298,\N,\N,PNPT1
437817,2:55911835:T>A,55911835,NM_033109.4,NM_033109.4:c.403+243A>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.518,\N,\N,PNPT1
437818,2:55911837:T>C,55911837,NM_033109.4,NM_033109.4:c.403+241A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.128,0.004,1KG_EUR_AF,PNPT1
437819,2:55911870:G>A,55911870,NM_033109.4,NM_033109.4:c.403+208C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.263,0.001,1KG_SAS_AF,PNPT1
437820,2:55911889:T>C,55911889,NM_033109.4,NM_033109.4:c.403+189A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.897,\N,\N,PNPT1
437821,2:55911899:A>G,55911899,NM_033109.4,NM_033109.4:c.403+179T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.305,0.001,1KG_EUR_AF,PNPT1
437822,2:55911907:T>C,55911907,NM_033109.4,NM_033109.4:c.403+171A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.756,0.0008,1KG_AFR_AF,PNPT1
437823,2:55911957:C>A,55911957,NM_033109.4,NM_033109.4:c.403+121G>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.29,\N,\N,PNPT1
437824,2:55911961:G>C,55911961,NM_033109.4,NM_033109.4:c.403+117C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.029,0.002,1KG_SAS_AF,PNPT1
437825,2:55911978:G>A,55911978,NM_033109.4,NM_033109.4:c.403+100C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.215,\N,\N,PNPT1
437826,2:55911996:T>C,55911996,NM_033109.4,NM_033109.4:c.403+82A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.788,0.0008,1KG_AFR_AF,PNPT1
437827,2:55912000:G>A,55912000,NM_033109.4,NM_033109.4:c.403+78C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.311,0.001,1KG_EAS_AF,PNPT1
437828,2:55912028:C>G,55912028,NM_033109.4,NM_033109.4:c.403+50G>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.88,\N,\N,PNPT1
437829,2:55912034:T>A,55912034,NM_033109.4,NM_033109.4:c.403+44A>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.124,0.000140726,EXAC_EAS_AF,PNPT1
437830,2:55912034:T>C,55912034,NM_033109.4,NM_033109.4:c.403+44A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.225,0.000116333,EVS_EA_AF,PNPT1
437831,2:55912036:G>C,55912036,NM_033109.4,NM_033109.4:c.403+42C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.677,0.000227169,EVS_AA_AF,PNPT1
437832,2:55912037:G>A,55912037,NM_033109.4,NM_033109.4:c.403+41C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.627,0.000332336,EXAC_SAS_AF,PNPT1
437833,2:55912047:G>A,55912047,NM_033109.4,NM_033109.4:c.403+31C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.755,0.00032352,EXAC_SAS_AF,PNPT1
437834,2:55912056:C>T,55912056,NM_033109.4,NM_033109.4:c.403+22G>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.47,0.000104932,EXAC_AFR_AF,PNPT1
437835,2:55912057:G>A,55912057,NM_033109.4,NM_033109.4:c.403+21C>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.32,0.000227066,EVS_AA_AF,PNPT1
437836,2:55912057:G>C,55912057,NM_033109.4,NM_033109.4:c.403+21C>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.544,0.0000183237,EXAC_NFE_AF,PNPT1
437837,2:55912061:C>T,55912061,NM_033109.4,NM_033109.4:c.403+17G>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.88,0.0000177223,EXAC_NFE_AF,PNPT1
437838,2:55912063:A>G,55912063,NM_033109.4,NM_033109.4:c.403+15T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.07,0.0000349614,EXAC_NFE_AF,PNPT1
437839,2:55912064:T>A,55912064,NM_033109.4,NM_033109.4:c.403+14A>T,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.54,0.0000966931,EXAC_AMR_AF,PNPT1
437840,2:55912064:T>G,55912064,NM_033109.4,NM_033109.4:c.403+14A>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.62,0.000226963,EVS_AA_AF,PNPT1
437841,2:55912066:T>C,55912066,NM_033109.4,NM_033109.4:c.403+12A>G,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.93,0.00014556,EXAC_SAS_AF,PNPT1
437842,2:55912068:A>T,55912068,NM_033109.4,NM_033109.4:c.403+10T>A,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14,0.0000507408,EXAC_NFE_AF,PNPT1
437843,2:55912069:A>G,55912069,NM_033109.4,NM_033109.4:c.403+9T>C,\N,\N,\N,4/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.81,0.0000168135,EXAC_NFE_AF,PNPT1
437844,2:55912075:T>C,55912075,NM_033109.4,NM_033109.4:c.403+3A>G,\N,\N,\N,4/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,13.76,\N,\N,PNPT1
437845,2:55912081:T>C,55912081,NM_033109.4,NM_033109.4:c.400A>G,NP_149100.2:p.Ile134Val,134,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,18.11,0.0000158927,EXAC_NFE_AF,PNPT1
437846,2:55912084:T>C,55912084,NM_033109.4,NM_033109.4:c.397A>G,NP_149100.2:p.Ile133Val,133,4/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,0.23,0.00062167,EXAC_AMR_AF,PNPT1
437847,2:55912087:G>A,55912087,NM_033109.4,NM_033109.4:c.394C>T,NP_149100.2:p.Arg132Ter,132,4/28,\N,Pathogenic,\N,stop_gained,HIGH,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,37,0.0000155627,EXAC_NFE_AF,PNPT1
437848,2:55912088:A>G,55912088,NM_033109.4,NM_033109.4:c.393T>C,NP_149100.2:p.Ser131=,131,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.45,0.001,1KG_SAS_AF,PNPT1
437849,2:55912096:G>C,55912096,NM_033109.4,NM_033109.4:c.385C>G,NP_149100.2:p.Leu129Val,129,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.8,0.00068173,EXAC_AFR_AF,PNPT1
437850,2:55912097:A>C,55912097,NM_033109.4,NM_033109.4:c.384T>G,NP_149100.2:p.Ile128Met,128,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,25.4,0.000186197,EXAC_SAS_AF,PNPT1
437851,2:55912098:A>G,55912098,NM_033109.4,NM_033109.4:c.383T>C,NP_149100.2:p.Ile128Thr,128,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.2,0.0000152555,EXAC_NFE_AF,PNPT1
437852,2:55912103:T>C,55912103,NM_033109.4,NM_033109.4:c.378A>G,NP_149100.2:p.Lys126=,126,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,2.666,0.000152161,EXAC_FIN_AF,PNPT1
437853,2:55912117:C>T,55912117,NM_033109.4,NM_033109.4:c.364G>A,NP_149100.2:p.Gly122Ser,122,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,23.6,0.000463607,EXAC_EAS_AF,PNPT1
437854,2:55912120:T>C,55912120,NM_033109.4,NM_033109.4:c.361A>G,NP_149100.2:p.Ile121Val,121,4/28,\N,Benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,13.16,0.561157,EXAC_FIN_AF,PNPT1
437855,2:55912124:T>C,55912124,NM_033109.4,NM_033109.4:c.357A>G,NP_149100.2:p.Arg119=,119,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.323,0.0000150236,EXAC_NFE_AF,PNPT1
437856,2:55912125:C>T,55912125,NM_033109.4,NM_033109.4:c.356G>A,NP_149100.2:p.Arg119Lys,119,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.2,0.0000150249,EXAC_NFE_AF,PNPT1
437857,2:55912130:C>T,55912130,NM_033109.4,NM_033109.4:c.351G>A,NP_149100.2:p.Leu117=,117,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,15.97,0.0000150236,EXAC_NFE_AF,PNPT1
437858,2:55912131:A>G,55912131,NM_033109.4,NM_033109.4:c.350T>C,NP_149100.2:p.Leu117Pro,117,4/28,\N,Likely pathogenic,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.6,\N,\N,PNPT1
437859,2:55912133:A>G,55912133,NM_033109.4,NM_033109.4:c.348T>C,NP_149100.2:p.Tyr116=,116,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.651,0.0000607238,EXAC_SAS_AF,PNPT1
437860,2:55912142:G>A,55912142,NM_033109.4,NM_033109.4:c.339C>T,NP_149100.2:p.Pro113=,113,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.06,0.0000300625,EXAC_NFE_AF,PNPT1
437861,2:55912143:G>A,55912143,NM_033109.4,NM_033109.4:c.338C>T,NP_149100.2:p.Pro113Leu,113,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,33,0.0000607607,EXAC_SAS_AF,PNPT1
437862,2:55912157:T>TGCA,55912157,NM_033109.4,NM_033109.4:c.321_323dup,NP_149100.2:p.Ala109dup,108,4/28,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,20.6,\N,\N,PNPT1
437863,2:55912169:T>A,55912169,NM_033109.4,NM_033109.4:c.312A>T,NP_149100.2:p.Gln104His,104,4/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,25.4,0.002,1KG_EAS_AF,PNPT1
437864,2:55912169:T>C,55912169,NM_033109.4,NM_033109.4:c.312A>G,NP_149100.2:p.Gln104=,104,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.124,0.0000151213,EXAC_NFE_AF,PNPT1
437865,2:55912175:G>A,55912175,NM_033109.4,NM_033109.4:c.306C>T,NP_149100.2:p.Tyr102=,102,4/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.011,0.0000616067,EXAC_SAS_AF,PNPT1
437866,2:55912181:A>C,55912181,NM_033109.4,NM_033109.4:c.300T>G,NP_149100.2:p.Val100=,100,4/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,14.03,\N,\N,PNPT1
437867,2:55912184:C>T,55912184,NM_033109.4,NM_033109.4:c.298-1G>A,\N,\N,\N,3/27,Unknown significance,\N,splice_acceptor_variant,HIGH,\N,\N,25.8,0.0000154832,EXAC_NFE_AF,PNPT1
437868,2:55912187:A>T,55912187,NM_033109.4,NM_033109.4:c.298-4T>A,\N,\N,\N,3/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,7.886,0.000120163,EXAC_EAS_AF,PNPT1
437869,2:55912191:A>C,55912191,NM_033109.4,NM_033109.4:c.298-8T>G,\N,\N,\N,3/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,1.635,0.0083,1KG_AFR_AF,PNPT1
437870,2:55912193:C>A,55912193,NM_033109.4,NM_033109.4:c.298-10G>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.1,0.00204267,EVS_AA_AF,PNPT1
437871,2:55912196:T>C,55912196,NM_033109.4,NM_033109.4:c.298-13A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.064,0.000226963,EVS_AA_AF,PNPT1
437872,2:55912210:T>C,55912210,NM_033109.4,NM_033109.4:c.298-27A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.461,0.0000173931,EXAC_NFE_AF,PNPT1
437873,2:55912211:A>G,55912211,NM_033109.4,NM_033109.4:c.298-28T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.075,0.000159847,EXAC_FIN_AF,PNPT1
437874,2:55912217:C>A,55912217,NM_033109.4,NM_033109.4:c.298-34G>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.785,0.000456204,EVS_AA_AF,PNPT1
437875,2:55912221:T>C,55912221,NM_033109.4,NM_033109.4:c.298-38A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.234,0.000116414,EVS_EA_AF,PNPT1
437876,2:55912234:CT>C,55912234,NM_033109.4,NM_033109.4:c.298-52del,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.115,\N,\N,PNPT1
437877,2:55912271:A>G,55912271,NM_033109.4,NM_033109.4:c.298-88T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.339,\N,\N,PNPT1
437878,2:55912288:C>G,55912288,NM_033109.4,NM_033109.4:c.298-105G>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.354,0.0029,1KG_AMR_AF,PNPT1
437879,2:55912364:G>C,55912364,NM_033109.4,NM_033109.4:c.298-181C>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.287,0.0008,1KG_AFR_AF,PNPT1
437880,2:55912369:T>C,55912369,NM_033109.4,NM_033109.4:c.298-186A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.047,0.003,1KG_AFR_AF,PNPT1
437881,2:55912421:G>A,55912421,NM_033109.4,NM_033109.4:c.298-238C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.219,0.0014,1KG_AMR_AF,PNPT1
437882,2:55912448:G>A,55912448,NM_033109.4,NM_033109.4:c.298-265C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.051,0.001,1KG_SAS_AF,PNPT1
437883,2:55912463:C>A,55912463,NM_033109.4,NM_033109.4:c.298-280G>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.552,\N,\N,PNPT1
437884,2:55912506:A>C,55912506,NM_033109.4,NM_033109.4:c.298-323T>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.783,0.0014,1KG_AMR_AF,PNPT1
437885,2:55912512:A>T,55912512,NM_033109.4,NM_033109.4:c.298-329T>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.999,0.0023,1KG_AFR_AF,PNPT1
437886,2:55912522:G>A,55912522,NM_033109.4,NM_033109.4:c.298-339C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.949,\N,\N,PNPT1
437887,2:55912529:G>A,55912529,NM_033109.4,NM_033109.4:c.298-346C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.439,0.0014,1KG_AMR_AF,PNPT1
437888,2:55912563:T>C,55912563,NM_033109.4,NM_033109.4:c.298-380A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.985,0.001,1KG_EAS_AF,PNPT1
437889,2:55912592:G>A,55912592,NM_033109.4,NM_033109.4:c.298-409C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.695,\N,\N,PNPT1
437890,2:55912662:T>TC,55912662,NM_033109.4,NM_033109.4:c.298-480dup,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437891,2:55912662:TC>T,55912662,NM_033109.4,NM_033109.4:c.298-480del,\N,\N,\N,3/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.117,0.1421,1KG_SAS_AF,PNPT1
437892,2:55912662:TCTC>T,55912662,NM_033109.4,NM_033109.4:c.298-482_298-480del,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437893,2:55912699:A>C,55912699,NM_033109.4,NM_033109.4:c.298-516T>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.242,\N,\N,PNPT1
437894,2:55912704:G>A,55912704,NM_033109.4,NM_033109.4:c.298-521C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.62,\N,\N,PNPT1
437895,2:55912732:C>G,55912732,NM_033109.4,NM_033109.4:c.298-549G>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.877,0.001,1KG_EUR_AF,PNPT1
437896,2:55912754:T>C,55912754,NM_033109.4,NM_033109.4:c.298-571A>G,\N,\N,\N,3/27,Benign,\N,intron_variant,MODIFIER,\N,\N,11.19,0.0083,1KG_AFR_AF,PNPT1
437897,2:55912895:C>T,55912895,NM_033109.4,NM_033109.4:c.297+610G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.754,\N,\N,PNPT1
437898,2:55912904:A>G,55912904,NM_033109.4,NM_033109.4:c.297+601T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.387,\N,\N,PNPT1
437899,2:55912920:A>G,55912920,NM_033109.4,NM_033109.4:c.297+585T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.174,\N,\N,PNPT1
437900,2:55912961:T>C,55912961,NM_033109.4,NM_033109.4:c.297+544A>G,\N,\N,\N,3/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.269,0.5209,1KG_EUR_AF,PNPT1
437901,2:55913002:G>T,55913002,NM_033109.4,NM_033109.4:c.297+503C>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.716,0.0008,1KG_AFR_AF,PNPT1
437902,2:55913037:C>T,55913037,NM_033109.4,NM_033109.4:c.297+468G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.633,\N,\N,PNPT1
437903,2:55913039:T>TA,55913039,NM_033109.4,NM_033109.4:c.297+465dup,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437904,2:55913062:C>A,55913062,NM_033109.4,NM_033109.4:c.297+443G>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.475,\N,\N,PNPT1
437905,2:55913073:A>T,55913073,NM_033109.4,NM_033109.4:c.297+432T>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.558,\N,\N,PNPT1
437906,2:55913122:A>T,55913122,NM_033109.4,NM_033109.4:c.297+383T>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.5,0.0008,1KG_AFR_AF,PNPT1
437907,2:55913123:A>G,55913123,NM_033109.4,NM_033109.4:c.297+382T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.174,0.0023,1KG_AFR_AF,PNPT1
437908,2:55913130:C>T,55913130,NM_033109.4,NM_033109.4:c.297+375G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.845,0.0008,1KG_AFR_AF,PNPT1
437909,2:55913131:G>A,55913131,NM_033109.4,NM_033109.4:c.297+374C>T,\N,\N,\N,3/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.623,0.3105,1KG_EAS_AF,PNPT1
437910,2:55913142:G>A,55913142,NM_033109.4,NM_033109.4:c.297+363C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.803,\N,\N,PNPT1
437911,2:55913158:G>A,55913158,NM_033109.4,NM_033109.4:c.297+347C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.528,\N,\N,PNPT1
437912,2:55913164:C>G,55913164,NM_033109.4,NM_033109.4:c.297+341G>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.602,0.001,1KG_EAS_AF,PNPT1
437913,2:55913197:A>G,55913197,NM_033109.4,NM_033109.4:c.297+308T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.229,0.003,1KG_EAS_AF,PNPT1
437914,2:55913202:T>C,55913202,NM_033109.4,NM_033109.4:c.297+303A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.62,\N,\N,PNPT1
437915,2:55913206:G>A,55913206,NM_033109.4,NM_033109.4:c.297+299C>T,\N,\N,\N,3/27,Benign,\N,intron_variant,MODIFIER,\N,\N,11.43,0.005,1KG_EUR_AF,PNPT1
437916,2:55913226:A>G,55913226,NM_033109.4,NM_033109.4:c.297+279T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.85,0.0041,1KG_SAS_AF,PNPT1
437917,2:55913263:C>G,55913263,NM_033109.4,NM_033109.4:c.297+242G>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.326,0.002,1KG_SAS_AF,PNPT1
437918,2:55913271:A>AT,55913271,NM_033109.4,NM_033109.4:c.297+233dup,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437919,2:55913271:AT>A,55913271,NM_033109.4,NM_033109.4:c.297+233del,\N,\N,\N,3/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.768,0.138,1KG_SAS_AF,PNPT1
437920,2:55913289:G>A,55913289,NM_033109.4,NM_033109.4:c.297+216C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.81,0.001,1KG_SAS_AF,PNPT1
437921,2:55913289:G>C,55913289,NM_033109.4,NM_033109.4:c.297+216C>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.261,\N,\N,PNPT1
437922,2:55913299:G>A,55913299,NM_033109.4,NM_033109.4:c.297+206C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.757,0.003,1KG_AFR_AF,PNPT1
437923,2:55913384:G>A,55913384,NM_033109.4,NM_033109.4:c.297+121C>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.201,0.002,1KG_EAS_AF,PNPT1
437924,2:55913416:T>C,55913416,NM_033109.4,NM_033109.4:c.297+89A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.212,\N,\N,PNPT1
437925,2:55913420:C>T,55913420,NM_033109.4,NM_033109.4:c.297+85G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.434,0.001,1KG_EUR_AF,PNPT1
437926,2:55913422:C>T,55913422,NM_033109.4,NM_033109.4:c.297+83G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.782,0.001,1KG_EAS_AF,PNPT1
437927,2:55913458:CT>C,55913458,NM_033109.4,NM_033109.4:c.297+46del,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.496,0.000193013,EXAC_AFR_AF,PNPT1
437928,2:55913460:T>C,55913460,NM_033109.4,NM_033109.4:c.297+45A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.004,0.000015119,EXAC_NFE_AF,PNPT1
437929,2:55913461:T>C,55913461,NM_033109.4,NM_033109.4:c.297+44A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.473,0.000261506,EXAC_AMR_AF,PNPT1
437930,2:55913463:C>T,55913463,NM_033109.4,NM_033109.4:c.297+42G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.887,0.000226963,EVS_AA_AF,PNPT1
437931,2:55913468:A>T,55913468,NM_033109.4,NM_033109.4:c.297+37T>A,\N,\N,\N,3/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.753,0.0207597,EXAC_NFE_AF,PNPT1
437932,2:55913470:C>A,55913470,NM_033109.4,NM_033109.4:c.297+35G>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.473,0.000907853,EVS_AA_AF,PNPT1
437933,2:55913475:T>C,55913475,NM_033109.4,NM_033109.4:c.297+30A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.293,0.0008,1KG_AFR_AF,PNPT1
437934,2:55913477:C>T,55913477,NM_033109.4,NM_033109.4:c.297+28G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.027,0.0000301459,EXAC_NFE_AF,PNPT1
437935,2:55913482:C>T,55913482,NM_033109.4,NM_033109.4:c.297+23G>A,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.518,0.0000150598,EXAC_NFE_AF,PNPT1
437936,2:55913483:A>G,55913483,NM_033109.4,NM_033109.4:c.297+22T>C,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10,0.0000451576,EXAC_NFE_AF,PNPT1
437937,2:55913486:T>C,55913486,NM_033109.4,NM_033109.4:c.297+19A>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.106,0.0000961723,EXAC_AFR_AF,PNPT1
437938,2:55913489:A>C,55913489,NM_033109.4,NM_033109.4:c.297+16T>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.714,0.0000610203,EXAC_SAS_AF,PNPT1
437939,2:55913490:T>A,55913490,NM_033109.4,NM_033109.4:c.297+15A>T,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.82,0.0000610054,EXAC_SAS_AF,PNPT1
437940,2:55913493:G>C,55913493,NM_033109.4,NM_033109.4:c.297+12C>G,\N,\N,\N,3/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.06,0.000121818,EXAC_SAS_AF,PNPT1
437941,2:55913498:T>C,55913498,NM_033109.4,NM_033109.4:c.297+7A>G,\N,\N,\N,3/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,8.409,0.0000150245,EXAC_NFE_AF,PNPT1
437942,2:55913502:T>TA,55913502,NM_033109.4,NM_033109.4:c.297+2dup,\N,\N,\N,3/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,16.32,0.0000150146,EXAC_NFE_AF,PNPT1
437943,2:55913506:A>C,55913506,NM_033109.4,NM_033109.4:c.296T>G,NP_149100.2:p.Val99Gly,99,3/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,27.5,0.0000865351,EXAC_AMR_AF,PNPT1
437944,2:55913523:G>A,55913523,NM_033109.4,NM_033109.4:c.279C>T,NP_149100.2:p.Ser93=,93,3/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.3,0.000768935,EXAC_AFR_AF,PNPT1
437945,2:55913523:G>C,55913523,NM_033109.4,NM_033109.4:c.279C>G,NP_149100.2:p.Ser93=,93,3/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.86,0.0000605914,EXAC_SAS_AF,PNPT1
437946,2:55913528:G>A,55913528,NM_033109.4,NM_033109.4:c.274C>T,NP_149100.2:p.Pro92Ser,92,3/28,\N,Likely benign,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,11.16,0.0000149961,EXAC_NFE_AF,PNPT1
437947,2:55913550:C>T,55913550,NM_033109.4,NM_033109.4:c.252G>A,NP_149100.2:p.Ala84=,84,3/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.75,0.0000606281,EXAC_SAS_AF,PNPT1
437948,2:55913551:G>A,55913551,NM_033109.4,NM_033109.4:c.251C>T,NP_149100.2:p.Ala84Val,84,3/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,15.63,0.000172921,EXAC_AMR_AF,PNPT1
437949,2:55913566:G>C,55913566,NM_033109.4,NM_033109.4:c.236C>G,NP_149100.2:p.Ala79Gly,79,3/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,28.8,0.0000607017,EXAC_SAS_AF,PNPT1
437950,2:55913570:T>C,55913570,NM_033109.4,NM_033109.4:c.232A>G,NP_149100.2:p.Thr78Ala,78,3/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,26.6,0.000607755,EXAC_SAS_AF,PNPT1
437951,2:55913574:A>C,55913574,NM_033109.4,NM_033109.4:c.228T>G,NP_149100.2:p.Gly76=,76,3/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.008,\N,\N,PNPT1
437952,2:55913588:T>A,55913588,NM_033109.4,NM_033109.4:c.223-9A>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.65,0.0041,1KG_SAS_AF,PNPT1
437953,2:55913592:G>A,55913592,NM_033109.4,NM_033109.4:c.223-13C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.143,0.00110375,EXAC_OTH_AF,PNPT1
437954,2:55913592:G>C,55913592,NM_033109.4,NM_033109.4:c.223-13C>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.139,0.00006141,EXAC_SAS_AF,PNPT1
437955,2:55913598:C>T,55913598,NM_033109.4,NM_033109.4:c.223-19G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.529,0.000226963,EVS_AA_AF,PNPT1
437956,2:55913599:G>A,55913599,NM_033109.4,NM_033109.4:c.223-20C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.622,0.000616675,EXAC_SAS_AF,PNPT1
437957,2:55913599:G>C,55913599,NM_033109.4,NM_033109.4:c.223-20C>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.324,0.0000305577,EXAC_NFE_AF,PNPT1
437958,2:55913600:C>A,55913600,NM_033109.4,NM_033109.4:c.223-21G>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.704,\N,\N,PNPT1
437959,2:55913607:G>T,55913607,NM_033109.4,NM_033109.4:c.223-28C>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.949,0.000118343,EXAC_EAS_AF,PNPT1
437960,2:55913610:C>T,55913610,NM_033109.4,NM_033109.4:c.223-31G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.827,0.0000883548,EXAC_AMR_AF,PNPT1
437961,2:55913622:G>C,55913622,NM_033109.4,NM_033109.4:c.223-43C>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.228,0.0008,1KG_AFR_AF,PNPT1
437962,2:55913628:A>T,55913628,NM_033109.4,NM_033109.4:c.223-49T>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.354,0.000125996,EXAC_NFE_AF,PNPT1
437963,2:55913644:C>A,55913644,NM_033109.4,NM_033109.4:c.223-65G>T,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.842,0.0716,1KG_SAS_AF,PNPT1
437964,2:55913655:C>T,55913655,NM_033109.4,NM_033109.4:c.223-76G>A,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.16,0.0228,1KG_EAS_AF,PNPT1
437965,2:55913657:T>C,55913657,NM_033109.4,NM_033109.4:c.223-78A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.95,\N,\N,PNPT1
437966,2:55913664:AT>A,55913664,NM_033109.4,NM_033109.4:c.223-86del,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437967,2:55913674:A>G,55913674,NM_033109.4,NM_033109.4:c.223-95T>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.61,0.001,1KG_EAS_AF,PNPT1
437968,2:55913680:G>T,55913680,NM_033109.4,NM_033109.4:c.223-101C>A,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.789,0.0083,1KG_AFR_AF,PNPT1
437969,2:55913729:G>A,55913729,NM_033109.4,NM_033109.4:c.223-150C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.947,\N,\N,PNPT1
437970,2:55913753:T>C,55913753,NM_033109.4,NM_033109.4:c.223-174A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.827,\N,\N,PNPT1
437971,2:55913784:T>C,55913784,NM_033109.4,NM_033109.4:c.223-205A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.663,0.003,1KG_EAS_AF,PNPT1
437972,2:55913799:G>C,55913799,NM_033109.4,NM_033109.4:c.223-220C>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.222,0.0008,1KG_AFR_AF,PNPT1
437973,2:55913826:C>A,55913826,NM_033109.4,NM_033109.4:c.223-247G>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.304,\N,\N,PNPT1
437974,2:55913827:T>C,55913827,NM_033109.4,NM_033109.4:c.223-248A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.019,0.001,1KG_EAS_AF,PNPT1
437975,2:55913838:T>C,55913838,NM_033109.4,NM_033109.4:c.223-259A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.241,\N,\N,PNPT1
437976,2:55913839:G>A,55913839,NM_033109.4,NM_033109.4:c.223-260C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.326,\N,\N,PNPT1
437977,2:55913839:GT>G,55913839,NM_033109.4,NM_033109.4:c.223-261del,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
437978,2:55913877:T>C,55913877,NM_033109.4,NM_033109.4:c.223-298A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.35,\N,\N,PNPT1
437979,2:55913879:G>A,55913879,NM_033109.4,NM_033109.4:c.223-300C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.72,\N,\N,PNPT1
437980,2:55913897:A>G,55913897,NM_033109.4,NM_033109.4:c.223-318T>C,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,17.54,0.9728,1KG_AFR_AF,PNPT1
437981,2:55913915:C>G,55913915,NM_033109.4,NM_033109.4:c.223-336G>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.718,0.0008,1KG_AFR_AF,PNPT1
437982,2:55913930:A>G,55913930,NM_033109.4,NM_033109.4:c.223-351T>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.065,0.0014,1KG_AMR_AF,PNPT1
437983,2:55913932:G>A,55913932,NM_033109.4,NM_033109.4:c.223-353C>T,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.099,0.006,1KG_EAS_AF,PNPT1
437984,2:55913970:C>G,55913970,NM_033109.4,NM_033109.4:c.223-391G>C,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.784,0.9932,1KG_AFR_AF,PNPT1
437985,2:55913982:C>A,55913982,NM_033109.4,NM_033109.4:c.223-403G>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.506,\N,\N,PNPT1
437986,2:55913992:C>T,55913992,NM_033109.4,NM_033109.4:c.223-413G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.396,\N,\N,PNPT1
437987,2:55914006:T>A,55914006,NM_033109.4,NM_033109.4:c.223-427A>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.334,\N,\N,PNPT1
437988,2:55914007:G>A,55914007,NM_033109.4,NM_033109.4:c.223-428C>T,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.111,0.0429,1KG_SAS_AF,PNPT1
437989,2:55914009:A>C,55914009,NM_033109.4,NM_033109.4:c.223-430T>G,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.143,0.4289,1KG_AFR_AF,PNPT1
437990,2:55914015:A>G,55914015,NM_033109.4,NM_033109.4:c.223-436T>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.288,0.002,1KG_EAS_AF,PNPT1
437991,2:55914025:G>A,55914025,NM_033109.4,NM_033109.4:c.223-446C>T,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.288,0.0461,1KG_AFR_AF,PNPT1
437992,2:55914041:G>A,55914041,NM_033109.4,NM_033109.4:c.223-462C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.459,\N,\N,PNPT1
437993,2:55914047:G>A,55914047,NM_033109.4,NM_033109.4:c.223-468C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.816,\N,\N,PNPT1
437994,2:55914055:G>A,55914055,NM_033109.4,NM_033109.4:c.223-476C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.961,\N,\N,PNPT1
437995,2:55914059:T>C,55914059,NM_033109.4,NM_033109.4:c.223-480A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.044,\N,\N,PNPT1
437996,2:55914071:C>T,55914071,NM_033109.4,NM_033109.4:c.223-492G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.682,0.001,1KG_SAS_AF,PNPT1
437997,2:55914075:C>T,55914075,NM_033109.4,NM_033109.4:c.223-496G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.253,0.0008,1KG_AFR_AF,PNPT1
437998,2:55914104:C>T,55914104,NM_033109.4,NM_033109.4:c.223-525G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.642,\N,\N,PNPT1
437999,2:55914131:C>A,55914131,NM_033109.4,NM_033109.4:c.223-552G>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.229,0.0014,1KG_AMR_AF,PNPT1
438000,2:55914165:C>T,55914165,NM_033109.4,NM_033109.4:c.223-586G>A,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.916,0.0112,1KG_SAS_AF,PNPT1
438001,2:55914181:C>G,55914181,NM_033109.4,NM_033109.4:c.222+599G>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.806,\N,\N,PNPT1
438002,2:55914183:A>T,55914183,NM_033109.4,NM_033109.4:c.222+597T>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.125,0.0008,1KG_AFR_AF,PNPT1
438003,2:55914203:GC>G,55914203,NM_033109.4,NM_033109.4:c.222+576del,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438004,2:55914209:C>T,55914209,NM_033109.4,NM_033109.4:c.222+571G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.635,0.001,1KG_SAS_AF,PNPT1
438005,2:55914210:G>A,55914210,NM_033109.4,NM_033109.4:c.222+570C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.988,0.0038,1KG_AFR_AF,PNPT1
438006,2:55914234:A>G,55914234,NM_033109.4,NM_033109.4:c.222+546T>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.411,\N,\N,PNPT1
438007,2:55914237:T>C,55914237,NM_033109.4,NM_033109.4:c.222+543A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.342,0.001,1KG_SAS_AF,PNPT1
438008,2:55914245:A>C,55914245,NM_033109.4,NM_033109.4:c.222+535T>G,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.694,0.0798,1KG_SAS_AF,PNPT1
438009,2:55914265:C>T,55914265,NM_033109.4,NM_033109.4:c.222+515G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.173,\N,\N,PNPT1
438010,2:55914266:G>A,55914266,NM_033109.4,NM_033109.4:c.222+514C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.441,0.0008,1KG_AFR_AF,PNPT1
438011,2:55914282:G>A,55914282,NM_033109.4,NM_033109.4:c.222+498C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.663,0.001,1KG_EAS_AF,PNPT1
438012,2:55914304:G>A,55914304,NM_033109.4,NM_033109.4:c.222+476C>T,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.106,0.3949,1KG_AFR_AF,PNPT1
438013,2:55914305:C>T,55914305,NM_033109.4,NM_033109.4:c.222+475G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.181,0.001,1KG_SAS_AF,PNPT1
438014,2:55914308:C>T,55914308,NM_033109.4,NM_033109.4:c.222+472G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.457,0.0008,1KG_AFR_AF,PNPT1
438015,2:55914312:G>A,55914312,NM_033109.4,NM_033109.4:c.222+468C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.195,0.003,1KG_EAS_AF,PNPT1
438016,2:55914348:C>CA,55914348,NM_033109.4,NM_033109.4:c.222+431dup,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.801,\N,\N,PNPT1
438017,2:55914348:C>CAA,55914348,NM_033109.4,NM_033109.4:c.222+430_222+431dup,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.704,\N,\N,PNPT1
438018,2:55914348:C>CAAA,55914348,NM_033109.4,NM_033109.4:c.222+429_222+431dup,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.606,\N,\N,PNPT1
438019,2:55914356:A>AC,55914356,NM_033109.4,NM_033109.4:c.222+423_222+424insG,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.595,\N,\N,PNPT1
438020,2:55914406:C>T,55914406,NM_033109.4,NM_033109.4:c.222+374G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.881,\N,\N,PNPT1
438021,2:55914447:C>T,55914447,NM_033109.4,NM_033109.4:c.222+333G>A,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.869,0.0051,1KG_SAS_AF,PNPT1
438022,2:55914450:C>G,55914450,NM_033109.4,NM_033109.4:c.222+330G>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.296,0.001,1KG_SAS_AF,PNPT1
438023,2:55914457:C>A,55914457,NM_033109.4,NM_033109.4:c.222+323G>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.443,0.0029,1KG_AMR_AF,PNPT1
438024,2:55914468:G>A,55914468,NM_033109.4,NM_033109.4:c.222+312C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.691,0.002,1KG_EAS_AF,PNPT1
438025,2:55914479:G>T,55914479,NM_033109.4,NM_033109.4:c.222+301C>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.461,\N,\N,PNPT1
438026,2:55914487:A>G,55914487,NM_033109.4,NM_033109.4:c.222+293T>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.454,\N,\N,PNPT1
438027,2:55914490:G>A,55914490,NM_033109.4,NM_033109.4:c.222+290C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.485,0.002,1KG_SAS_AF,PNPT1
438028,2:55914493:T>G,55914493,NM_033109.4,NM_033109.4:c.222+287A>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.821,0.001,1KG_SAS_AF,PNPT1
438029,2:55914538:G>A,55914538,NM_033109.4,NM_033109.4:c.222+242C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.284,0.001,1KG_EAS_AF,PNPT1
438030,2:55914559:G>A,55914559,NM_033109.4,NM_033109.4:c.222+221C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.428,\N,\N,PNPT1
438031,2:55914573:C>CA,55914573,NM_033109.4,NM_033109.4:c.222+206dup,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.395,0.5139,1KG_EUR_AF,PNPT1
438032,2:55914621:T>C,55914621,NM_033109.4,NM_033109.4:c.222+159A>G,\N,\N,\N,2/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.995,0.5219,1KG_EUR_AF,PNPT1
438033,2:55914648:A>G,55914648,NM_033109.4,NM_033109.4:c.222+132T>C,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.51,\N,\N,PNPT1
438034,2:55914665:T>C,55914665,NM_033109.4,NM_033109.4:c.222+115A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.265,\N,\N,PNPT1
438035,2:55914704:G>A,55914704,NM_033109.4,NM_033109.4:c.222+76C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.629,\N,\N,PNPT1
438036,2:55914714:T>C,55914714,NM_033109.4,NM_033109.4:c.222+66A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.489,0.001,1KG_EUR_AF,PNPT1
438037,2:55914731:G>A,55914731,NM_033109.4,NM_033109.4:c.222+49C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.532,0.000100929,EXAC_AFR_AF,PNPT1
438038,2:55914736:C>T,55914736,NM_033109.4,NM_033109.4:c.222+44G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.272,0.0014,1KG_AMR_AF,PNPT1
438039,2:55914737:G>A,55914737,NM_033109.4,NM_033109.4:c.222+43C>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.823,0.0008,1KG_AFR_AF,PNPT1
438040,2:55914739:A>T,55914739,NM_033109.4,NM_033109.4:c.222+41T>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.46,0.000116279,EVS_EA_AF,PNPT1
438041,2:55914742:C>T,55914742,NM_033109.4,NM_033109.4:c.222+38G>A,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.594,0.0000152184,EXAC_NFE_AF,PNPT1
438042,2:55914759:T>A,55914759,NM_033109.4,NM_033109.4:c.222+21A>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.951,0.0000866251,EXAC_AMR_AF,PNPT1
438043,2:55914760:T>C,55914760,NM_033109.4,NM_033109.4:c.222+20A>G,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.097,0.0000151644,EXAC_NFE_AF,PNPT1
438044,2:55914767:C>A,55914767,NM_033109.4,NM_033109.4:c.222+13G>T,\N,\N,\N,2/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.098,\N,\N,PNPT1
438045,2:55914788:C>T,55914788,NM_033109.4,NM_033109.4:c.214G>A,NP_149100.2:p.Val72Ile,72,2/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,22.8,0.0000150689,EXAC_NFE_AF,PNPT1
438046,2:55914805:A>G,55914805,NM_033109.4,NM_033109.4:c.197T>C,NP_149100.2:p.Phe66Ser,66,2/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,\N,\N,PNPT1
438047,2:55914810:G>C,55914810,NM_033109.4,NM_033109.4:c.192C>G,NP_149100.2:p.Ala64=,64,2/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.04,0.0000866852,EXAC_AMR_AF,PNPT1
438048,2:55914816:C>G,55914816,NM_033109.4,NM_033109.4:c.186G>C,NP_149100.2:p.Lys62Asn,62,2/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,25.8,0.0000151094,EXAC_NFE_AF,PNPT1
438049,2:55914821:C>G,55914821,NM_033109.4,NM_033109.4:c.181G>C,NP_149100.2:p.Gly61Arg,61,2/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,33,0.0000151245,EXAC_NFE_AF,PNPT1
438050,2:55914828:T>C,55914828,NM_033109.4,NM_033109.4:c.174A>G,NP_149100.2:p.Ile58Met,58,2/28,\N,Unknown significance,\N,missense_variant,MODERATE,Exoribonuclease| phosphorolytic domain 1;PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,15.66,0.00018659,EXAC_SAS_AF,PNPT1
438051,2:55914840:C>T,55914840,NM_033109.4,NM_033109.4:c.162G>A,NP_149100.2:p.Arg54=,54,2/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,15.65,0.001,1KG_EUR_AF,PNPT1
438052,2:55914844:T>C,55914844,NM_033109.4,NM_033109.4:c.162-4A>G,\N,\N,\N,1/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,11.86,0.0000152737,EXAC_NFE_AF,PNPT1
438053,2:55914849:A>T,55914849,NM_033109.4,NM_033109.4:c.162-9T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.99,0.0000306222,EXAC_NFE_AF,PNPT1
438054,2:55914854:A>C,55914854,NM_033109.4,NM_033109.4:c.162-14T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.99,0.0000649435,EXAC_SAS_AF,PNPT1
438055,2:55914863:T>C,55914863,NM_033109.4,NM_033109.4:c.162-23A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.69,0.000227894,EVS_AA_AF,PNPT1
438056,2:55914863:T>G,55914863,NM_033109.4,NM_033109.4:c.162-23A>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.64,0.0000309713,EXAC_NFE_AF,PNPT1
438057,2:55914865:C>A,55914865,NM_033109.4,NM_033109.4:c.162-25G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.81,0.000120192,EXAC_EAS_AF,PNPT1
438058,2:55914870:A>C,55914870,NM_033109.4,NM_033109.4:c.162-30T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.158,0.000015539,EXAC_NFE_AF,PNPT1
438059,2:55914880:C>A,55914880,NM_033109.4,NM_033109.4:c.162-40G>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.867,0.00853919,EXAC_FIN_AF,PNPT1
438060,2:55914888:C>A,55914888,NM_033109.4,NM_033109.4:c.162-48G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.058,0.0000694348,EXAC_SAS_AF,PNPT1
438061,2:55914895:T>A,55914895,NM_033109.4,NM_033109.4:c.162-55A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.434,0.0014,1KG_AMR_AF,PNPT1
438062,2:55914900:A>G,55914900,NM_033109.4,NM_033109.4:c.162-60T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.552,0.002,1KG_EUR_AF,PNPT1
438063,2:55914904:T>C,55914904,NM_033109.4,NM_033109.4:c.162-64A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.603,0.002,1KG_EAS_AF,PNPT1
438064,2:55914906:A>T,55914906,NM_033109.4,NM_033109.4:c.162-66T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.998,0.0008,1KG_AFR_AF,PNPT1
438065,2:55914907:A>G,55914907,NM_033109.4,NM_033109.4:c.162-67T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.391,\N,\N,PNPT1
438066,2:55914945:C>A,55914945,NM_033109.4,NM_033109.4:c.162-105G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.54,0.001,1KG_EAS_AF|1KG_SAS_AF,PNPT1
438067,2:55914949:C>T,55914949,NM_033109.4,NM_033109.4:c.162-109G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.193,0.0089,1KG_EUR_AF,PNPT1
438068,2:55914962:C>T,55914962,NM_033109.4,NM_033109.4:c.162-122G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.712,0.0061,1KG_AFR_AF,PNPT1
438069,2:55915034:G>A,55915034,NM_033109.4,NM_033109.4:c.162-194C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.964,0.002,1KG_SAS_AF,PNPT1
438070,2:55915062:C>T,55915062,NM_033109.4,NM_033109.4:c.162-222G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.593,0.001,1KG_EAS_AF,PNPT1
438071,2:55915074:T>C,55915074,NM_033109.4,NM_033109.4:c.162-234A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.882,\N,\N,PNPT1
438072,2:55915090:T>C,55915090,NM_033109.4,NM_033109.4:c.162-250A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.918,0.0008,1KG_AFR_AF,PNPT1
438073,2:55915128:A>AT,55915128,NM_033109.4,NM_033109.4:c.162-289dup,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.558,\N,\N,PNPT1
438074,2:55915128:AT>A,55915128,NM_033109.4,NM_033109.4:c.162-289del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.951,\N,\N,PNPT1
438075,2:55915143:T>TG,55915143,NM_033109.4,NM_033109.4:c.162-304dup,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.8,0.0068,1KG_AFR_AF,PNPT1
438076,2:55915146:G>C,55915146,NM_033109.4,NM_033109.4:c.162-306C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.009,\N,\N,PNPT1
438077,2:55915155:T>A,55915155,NM_033109.4,NM_033109.4:c.162-315A>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.432,0.9818,1KG_AFR_AF,PNPT1
438078,2:55915183:CT>C,55915183,NM_033109.4,NM_033109.4:c.162-344del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.301,\N,\N,PNPT1
438079,2:55915187:T>C,55915187,NM_033109.4,NM_033109.4:c.162-347A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.818,0.001,1KG_SAS_AF,PNPT1
438080,2:55915204:G>C,55915204,NM_033109.4,NM_033109.4:c.162-364C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.05,0.0008,1KG_AFR_AF,PNPT1
438081,2:55915245:T>C,55915245,NM_033109.4,NM_033109.4:c.162-405A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.019,0.002,1KG_EAS_AF,PNPT1
438082,2:55915261:C>A,55915261,NM_033109.4,NM_033109.4:c.162-421G>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.528,0.0149,1KG_EUR_AF,PNPT1
438083,2:55915305:GT>G,55915305,NM_033109.4,NM_033109.4:c.162-466del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438084,2:55915367:T>A,55915367,NM_033109.4,NM_033109.4:c.162-527A>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.301,0.9735,1KG_AFR_AF,PNPT1
438085,2:55915369:C>T,55915369,NM_033109.4,NM_033109.4:c.162-529G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.564,0.003,1KG_EUR_AF,PNPT1
438086,2:55915376:T>C,55915376,NM_033109.4,NM_033109.4:c.162-536A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.174,0.0015,1KG_AFR_AF,PNPT1
438087,2:55915390:G>A,55915390,NM_033109.4,NM_033109.4:c.162-550C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.28,\N,\N,PNPT1
438088,2:55915411:G>A,55915411,NM_033109.4,NM_033109.4:c.162-571C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.336,\N,\N,PNPT1
438089,2:55915426:T>C,55915426,NM_033109.4,NM_033109.4:c.162-586A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.699,\N,\N,PNPT1
438090,2:55915430:C>T,55915430,NM_033109.4,NM_033109.4:c.162-590G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.536,\N,\N,PNPT1
438091,2:55915439:T>C,55915439,NM_033109.4,NM_033109.4:c.162-599A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.841,0.001,1KG_SAS_AF,PNPT1
438092,2:55915444:G>C,55915444,NM_033109.4,NM_033109.4:c.162-604C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.73,0.002,1KG_EAS_AF,PNPT1
438093,2:55915460:C>T,55915460,NM_033109.4,NM_033109.4:c.162-620G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.22,0.002,1KG_EAS_AF,PNPT1
438094,2:55915472:G>C,55915472,NM_033109.4,NM_033109.4:c.162-632C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.062,0.0014,1KG_AMR_AF,PNPT1
438095,2:55915487:T>C,55915487,NM_033109.4,NM_033109.4:c.162-647A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.116,\N,\N,PNPT1
438096,2:55915490:G>A,55915490,NM_033109.4,NM_033109.4:c.162-650C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.907,\N,\N,PNPT1
438097,2:55915490:G>C,55915490,NM_033109.4,NM_033109.4:c.162-650C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.601,\N,\N,PNPT1
438098,2:55915493:C>A,55915493,NM_033109.4,NM_033109.4:c.162-653G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.114,0.0008,1KG_AFR_AF,PNPT1
438099,2:55915497:C>G,55915497,NM_033109.4,NM_033109.4:c.162-657G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.218,\N,\N,PNPT1
438100,2:55915509:C>G,55915509,NM_033109.4,NM_033109.4:c.162-669G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.25,\N,\N,PNPT1
438101,2:55915518:T>C,55915518,NM_033109.4,NM_033109.4:c.162-678A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.795,0.001,1KG_EAS_AF,PNPT1
438102,2:55915526:A>G,55915526,NM_033109.4,NM_033109.4:c.162-686T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.242,\N,\N,PNPT1
438103,2:55915581:A>T,55915581,NM_033109.4,NM_033109.4:c.162-741T>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.552,0.0624,1KG_SAS_AF,PNPT1
438104,2:55915583:G>A,55915583,NM_033109.4,NM_033109.4:c.162-743C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.119,0.0014,1KG_AMR_AF,PNPT1
438105,2:55915585:G>A,55915585,NM_033109.4,NM_033109.4:c.162-745C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.498,0.0008,1KG_AFR_AF,PNPT1
438106,2:55915643:C>T,55915643,NM_033109.4,NM_033109.4:c.162-803G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.794,0.001,1KG_EAS_AF,PNPT1
438107,2:55915644:G>A,55915644,NM_033109.4,NM_033109.4:c.162-804C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.404,0.0008,1KG_AFR_AF,PNPT1
438108,2:55915660:G>A,55915660,NM_033109.4,NM_033109.4:c.162-820C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.878,0.002,1KG_SAS_AF,PNPT1
438109,2:55915678:G>A,55915678,NM_033109.4,NM_033109.4:c.162-838C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.899,\N,\N,PNPT1
438110,2:55915731:G>A,55915731,NM_033109.4,NM_033109.4:c.162-891C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.044,0.0014,1KG_AMR_AF,PNPT1
438111,2:55915733:G>C,55915733,NM_033109.4,NM_033109.4:c.162-893C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.217,\N,\N,PNPT1
438112,2:55915760:C>T,55915760,NM_033109.4,NM_033109.4:c.162-920G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.739,0.001,1KG_EAS_AF|1KG_SAS_AF,PNPT1
438113,2:55915782:C>T,55915782,NM_033109.4,NM_033109.4:c.162-942G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.175,\N,\N,PNPT1
438114,2:55915785:A>G,55915785,NM_033109.4,NM_033109.4:c.162-945T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.201,0.001,1KG_SAS_AF,PNPT1
438115,2:55915826:G>C,55915826,NM_033109.4,NM_033109.4:c.162-986C>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.487,0.6475,1KG_AFR_AF,PNPT1
438116,2:55915855:G>T,55915855,NM_033109.4,NM_033109.4:c.162-1015C>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.211,\N,\N,PNPT1
438117,2:55915872:A>G,55915872,NM_033109.4,NM_033109.4:c.162-1032T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.634,\N,\N,PNPT1
438118,2:55915877:AAACAAC>A,55915877,NM_033109.4,NM_033109.4:c.162-1043_162-1038del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438119,2:55915885:AC>A,55915885,NM_033109.4,NM_033109.4:c.162-1046del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438120,2:55915895:C>A,55915895,NM_033109.4,NM_033109.4:c.162-1055G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.745,\N,\N,PNPT1
438121,2:55915898:C>A,55915898,NM_033109.4,NM_033109.4:c.162-1058G>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.351,0.2996,1KG_SAS_AF,PNPT1
438122,2:55915901:C>A,55915901,NM_033109.4,NM_033109.4:c.162-1061G>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.604,0.5348,1KG_AFR_AF,PNPT1
438123,2:55915901:C>CAAA,55915901,NM_033109.4,NM_033109.4:c.162-1064_162-1062dup,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.525,\N,\N,PNPT1
438124,2:55915901:CAAA>C,55915901,NM_033109.4,NM_033109.4:c.162-1064_162-1062del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.315,\N,\N,PNPT1
438125,2:55915904:A>C,55915904,NM_033109.4,NM_033109.4:c.162-1064T>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.32,0.5209,1KG_EUR_AF,PNPT1
438126,2:55915923:C>T,55915923,NM_033109.4,NM_033109.4:c.162-1083G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.762,\N,\N,PNPT1
438127,2:55915963:T>C,55915963,NM_033109.4,NM_033109.4:c.162-1123A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.097,0.001,1KG_SAS_AF,PNPT1
438128,2:55915981:C>T,55915981,NM_033109.4,NM_033109.4:c.162-1141G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.058,0.001,1KG_EAS_AF,PNPT1
438129,2:55915990:G>A,55915990,NM_033109.4,NM_033109.4:c.162-1150C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.937,0.0008,1KG_AFR_AF,PNPT1
438130,2:55915992:G>A,55915992,NM_033109.4,NM_033109.4:c.162-1152C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.128,0.0014,1KG_AMR_AF,PNPT1
438131,2:55916008:A>G,55916008,NM_033109.4,NM_033109.4:c.162-1168T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.007,0.0014,1KG_AMR_AF,PNPT1
438132,2:55916034:G>T,55916034,NM_033109.4,NM_033109.4:c.162-1194C>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.271,0.001,1KG_EUR_AF,PNPT1
438133,2:55916040:A>G,55916040,NM_033109.4,NM_033109.4:c.162-1200T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.377,\N,\N,PNPT1
438134,2:55916102:G>C,55916102,NM_033109.4,NM_033109.4:c.162-1262C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.17,0.001,1KG_EAS_AF,PNPT1
438135,2:55916106:C>G,55916106,NM_033109.4,NM_033109.4:c.162-1266G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.456,\N,\N,PNPT1
438136,2:55916110:C>T,55916110,NM_033109.4,NM_033109.4:c.162-1270G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.63,0.0144,1KG_AFR_AF,PNPT1
438137,2:55916154:G>A,55916154,NM_033109.4,NM_033109.4:c.162-1314C>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.813,0.138,1KG_SAS_AF,PNPT1
438138,2:55916155:T>C,55916155,NM_033109.4,NM_033109.4:c.162-1315A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.28,0.002,1KG_EAS_AF,PNPT1
438139,2:55916175:CCACA>C,55916175,NM_033109.4,NM_033109.4:c.162-1339_162-1336del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438140,2:55916196:A>G,55916196,NM_033109.4,NM_033109.4:c.162-1356T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.88,0.002,1KG_EUR_AF,PNPT1
438141,2:55916211:A>G,55916211,NM_033109.4,NM_033109.4:c.162-1371T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.341,0.003,1KG_EAS_AF,PNPT1
438142,2:55916215:CAAAAG>C,55916215,NM_033109.4,NM_033109.4:c.162-1380_162-1376del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438143,2:55916239:A>C,55916239,NM_033109.4,NM_033109.4:c.162-1399T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.414,\N,\N,PNPT1
438144,2:55916272:G>C,55916272,NM_033109.4,NM_033109.4:c.162-1432C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.199,\N,\N,PNPT1
438145,2:55916276:A>G,55916276,NM_033109.4,NM_033109.4:c.162-1436T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.528,\N,\N,PNPT1
438146,2:55916303:T>C,55916303,NM_033109.4,NM_033109.4:c.162-1463A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.033,0.0008,1KG_AFR_AF,PNPT1
438147,2:55916340:A>C,55916340,NM_033109.4,NM_033109.4:c.162-1500T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.688,\N,\N,PNPT1
438148,2:55916347:A>G,55916347,NM_033109.4,NM_033109.4:c.162-1507T>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.604,0.005,1KG_EUR_AF,PNPT1
438149,2:55916385:C>G,55916385,NM_033109.4,NM_033109.4:c.162-1545G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.24,\N,\N,PNPT1
438150,2:55916403:T>C,55916403,NM_033109.4,NM_033109.4:c.162-1563A>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.471,0.0061,1KG_AFR_AF,PNPT1
438151,2:55916419:T>A,55916419,NM_033109.4,NM_033109.4:c.162-1579A>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.657,0.0182,1KG_AFR_AF,PNPT1
438152,2:55916451:CCAGTAAGTA>C,55916451,NM_033109.4,NM_033109.4:c.162-1620_162-1612del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438153,2:55916506:C>T,55916506,NM_033109.4,NM_033109.4:c.162-1666G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.102,0.0121,1KG_AFR_AF,PNPT1
438154,2:55916509:A>T,55916509,NM_033109.4,NM_033109.4:c.162-1669T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.363,\N,\N,PNPT1
438155,2:55916553:T>C,55916553,NM_033109.4,NM_033109.4:c.162-1713A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.328,\N,\N,PNPT1
438156,2:55916612:T>C,55916612,NM_033109.4,NM_033109.4:c.162-1772A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.09,\N,\N,PNPT1
438157,2:55916619:G>A,55916619,NM_033109.4,NM_033109.4:c.162-1779C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.24,\N,\N,PNPT1
438158,2:55916620:C>T,55916620,NM_033109.4,NM_033109.4:c.162-1780G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.19,0.001,1KG_SAS_AF,PNPT1
438159,2:55916627:T>C,55916627,NM_033109.4,NM_033109.4:c.162-1787A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.575,\N,\N,PNPT1
438160,2:55916639:T>A,55916639,NM_033109.4,NM_033109.4:c.162-1799A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.003,\N,\N,PNPT1
438161,2:55916659:C>T,55916659,NM_033109.4,NM_033109.4:c.162-1819G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.297,0.0045,1KG_AFR_AF,PNPT1
438162,2:55916759:A>G,55916759,NM_033109.4,NM_033109.4:c.162-1919T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.199,0.0008,1KG_AFR_AF,PNPT1
438163,2:55916768:A>G,55916768,NM_033109.4,NM_033109.4:c.162-1928T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.544,0.0014,1KG_AMR_AF,PNPT1
438164,2:55916775:T>C,55916775,NM_033109.4,NM_033109.4:c.162-1935A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.331,\N,\N,PNPT1
438165,2:55916796:T>C,55916796,NM_033109.4,NM_033109.4:c.162-1956A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.66,0.003,1KG_EUR_AF,PNPT1
438166,2:55916811:T>C,55916811,NM_033109.4,NM_033109.4:c.162-1971A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.27,\N,\N,PNPT1
438167,2:55916836:G>A,55916836,NM_033109.4,NM_033109.4:c.162-1996C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.681,\N,\N,PNPT1
438168,2:55916858:AT>A,55916858,NM_033109.4,NM_033109.4:c.162-2019del,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.594,0.0961,1KG_AFR_AF,PNPT1
438169,2:55916860:T>G,55916860,NM_033109.4,NM_033109.4:c.162-2020A>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.198,\N,\N,PNPT1
438170,2:55916875:T>C,55916875,NM_033109.4,NM_033109.4:c.162-2035A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.82,0.001,1KG_SAS_AF,PNPT1
438171,2:55916957:T>A,55916957,NM_033109.4,NM_033109.4:c.162-2117A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.993,\N,\N,PNPT1
438172,2:55916977:G>C,55916977,NM_033109.4,NM_033109.4:c.162-2137C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.512,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PNPT1
438173,2:55916983:G>A,55916983,NM_033109.4,NM_033109.4:c.162-2143C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.606,\N,\N,PNPT1
438174,2:55916992:T>C,55916992,NM_033109.4,NM_033109.4:c.162-2152A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.05,\N,\N,PNPT1
438175,2:55917000:A>G,55917000,NM_033109.4,NM_033109.4:c.162-2160T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.13,\N,\N,PNPT1
438176,2:55917004:T>C,55917004,NM_033109.4,NM_033109.4:c.162-2164A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.19,\N,\N,PNPT1
438177,2:55917022:T>A,55917022,NM_033109.4,NM_033109.4:c.162-2182A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.381,\N,\N,PNPT1
438178,2:55917028:C>G,55917028,NM_033109.4,NM_033109.4:c.162-2188G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.847,0.001,1KG_EUR_AF,PNPT1
438179,2:55917044:C>A,55917044,NM_033109.4,NM_033109.4:c.162-2204G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.855,\N,\N,PNPT1
438180,2:55917081:C>T,55917081,NM_033109.4,NM_033109.4:c.162-2241G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.079,0.001,1KG_SAS_AF,PNPT1
438181,2:55917091:G>A,55917091,NM_033109.4,NM_033109.4:c.162-2251C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.196,0.0023,1KG_AFR_AF,PNPT1
438182,2:55917169:C>G,55917169,NM_033109.4,NM_033109.4:c.162-2329G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.05,0.0045,1KG_AFR_AF,PNPT1
438183,2:55917184:T>A,55917184,NM_033109.4,NM_033109.4:c.162-2344A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.33,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PNPT1
438184,2:55917210:G>A,55917210,NM_033109.4,NM_033109.4:c.162-2370C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.604,0.0014,1KG_AMR_AF,PNPT1
438185,2:55917225:A>G,55917225,NM_033109.4,NM_033109.4:c.162-2385T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.961,\N,\N,PNPT1
438186,2:55917249:T>TC,55917249,NM_033109.4,NM_033109.4:c.162-2410dup,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438187,2:55917256:C>G,55917256,NM_033109.4,NM_033109.4:c.162-2416G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.159,\N,\N,PNPT1
438188,2:55917256:C>T,55917256,NM_033109.4,NM_033109.4:c.162-2416G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.36,0.0537,1KG_AFR_AF,PNPT1
438189,2:55917267:C>CT,55917267,NM_033109.4,NM_033109.4:c.162-2428dup,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438190,2:55917270:T>C,55917270,NM_033109.4,NM_033109.4:c.162-2430A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.798,0.0038,1KG_AFR_AF,PNPT1
438191,2:55917291:G>C,55917291,NM_033109.4,NM_033109.4:c.162-2451C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.156,0.001,1KG_SAS_AF,PNPT1
438192,2:55917312:G>A,55917312,NM_033109.4,NM_033109.4:c.162-2472C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.829,0.0008,1KG_AFR_AF,PNPT1
438193,2:55917333:C>T,55917333,NM_033109.4,NM_033109.4:c.162-2493G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.55,0.0008,1KG_AFR_AF,PNPT1
438194,2:55917337:A>G,55917337,NM_033109.4,NM_033109.4:c.162-2497T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.782,\N,\N,PNPT1
438195,2:55917380:A>C,55917380,NM_033109.4,NM_033109.4:c.162-2540T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.217,\N,\N,PNPT1
438196,2:55917402:G>A,55917402,NM_033109.4,NM_033109.4:c.162-2562C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.91,0.0008,1KG_AFR_AF,PNPT1
438197,2:55917443:G>T,55917443,NM_033109.4,NM_033109.4:c.162-2603C>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,14.14,\N,\N,PNPT1
438198,2:55917479:G>T,55917479,NM_033109.4,NM_033109.4:c.162-2639C>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.732,0.001,1KG_SAS_AF,PNPT1
438199,2:55917483:CAGAGAA>C,55917483,NM_033109.4,NM_033109.4:c.162-2649_162-2644del,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.299,0.9849,1KG_AFR_AF,PNPT1
438200,2:55917489:A>C,55917489,NM_033109.4,NM_033109.4:c.162-2649T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.373,\N,\N,PNPT1
438201,2:55917503:G>A,55917503,NM_033109.4,NM_033109.4:c.162-2663C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.916,0.001,1KG_EAS_AF,PNPT1
438202,2:55917524:G>A,55917524,NM_033109.4,NM_033109.4:c.162-2684C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.301,0.002,1KG_EAS_AF,PNPT1
438203,2:55917539:T>C,55917539,NM_033109.4,NM_033109.4:c.162-2699A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.864,\N,\N,PNPT1
438204,2:55917543:C>G,55917543,NM_033109.4,NM_033109.4:c.162-2703G>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,12.9,0.0348,1KG_AFR_AF,PNPT1
438205,2:55917547:T>G,55917547,NM_033109.4,NM_033109.4:c.162-2707A>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.31,\N,\N,PNPT1
438206,2:55917604:A>G,55917604,NM_033109.4,NM_033109.4:c.162-2764T>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.463,0.6173,1KG_EUR_AF,PNPT1
438207,2:55917614:T>C,55917614,NM_033109.4,NM_033109.4:c.162-2774A>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.006,0.0429,1KG_SAS_AF,PNPT1
438208,2:55917631:C>A,55917631,NM_033109.4,NM_033109.4:c.162-2791G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.339,\N,\N,PNPT1
438209,2:55917650:C>T,55917650,NM_033109.4,NM_033109.4:c.162-2810G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.004,\N,\N,PNPT1
438210,2:55917730:C>A,55917730,NM_033109.4,NM_033109.4:c.162-2890G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.583,0.0023,1KG_AFR_AF,PNPT1
438211,2:55917742:T>C,55917742,NM_033109.4,NM_033109.4:c.162-2902A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.171,0.001,1KG_SAS_AF,PNPT1
438212,2:55917788:T>C,55917788,NM_033109.4,NM_033109.4:c.162-2948A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.623,0.0008,1KG_AFR_AF,PNPT1
438213,2:55917798:T>G,55917798,NM_033109.4,NM_033109.4:c.162-2958A>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.786,0.0029,1KG_AMR_AF,PNPT1
438214,2:55917805:A>G,55917805,NM_033109.4,NM_033109.4:c.162-2965T>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.438,0.9713,1KG_AFR_AF,PNPT1
438215,2:55917840:T>A,55917840,NM_033109.4,NM_033109.4:c.161+2958A>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.19,0.006,1KG_EUR_AF,PNPT1
438216,2:55917841:A>T,55917841,NM_033109.4,NM_033109.4:c.161+2957T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.268,0.001,1KG_SAS_AF,PNPT1
438217,2:55917890:C>A,55917890,NM_033109.4,NM_033109.4:c.161+2908G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.603,0.002,1KG_SAS_AF,PNPT1
438218,2:55917903:A>G,55917903,NM_033109.4,NM_033109.4:c.161+2895T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.405,0.001,1KG_SAS_AF,PNPT1
438219,2:55917917:C>A,55917917,NM_033109.4,NM_033109.4:c.161+2881G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.162,\N,\N,PNPT1
438220,2:55917968:T>C,55917968,NM_033109.4,NM_033109.4:c.161+2830A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.207,0.001,1KG_EAS_AF,PNPT1
438221,2:55917978:G>A,55917978,NM_033109.4,NM_033109.4:c.161+2820C>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.693,1,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PNPT1
438222,2:55917981:T>C,55917981,NM_033109.4,NM_033109.4:c.161+2817A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.066,\N,\N,PNPT1
438223,2:55918025:T>G,55918025,NM_033109.4,NM_033109.4:c.161+2773A>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.85,0.002,1KG_SAS_AF,PNPT1
438224,2:55918067:G>A,55918067,NM_033109.4,NM_033109.4:c.161+2731C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.01,\N,\N,PNPT1
438225,2:55918072:A>C,55918072,NM_033109.4,NM_033109.4:c.161+2726T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.089,0.001,1KG_SAS_AF,PNPT1
438226,2:55918075:T>A,55918075,NM_033109.4,NM_033109.4:c.161+2723A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.56,0.001,1KG_SAS_AF,PNPT1
438227,2:55918096:G>C,55918096,NM_033109.4,NM_033109.4:c.161+2702C>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.271,0.0069,1KG_EAS_AF,PNPT1
438228,2:55918102:C>T,55918102,NM_033109.4,NM_033109.4:c.161+2696G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.486,0.9735,1KG_AFR_AF,PNPT1
438229,2:55918138:T>C,55918138,NM_033109.4,NM_033109.4:c.161+2660A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.155,\N,\N,PNPT1
438230,2:55918143:C>T,55918143,NM_033109.4,NM_033109.4:c.161+2655G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.636,\N,\N,PNPT1
438231,2:55918153:T>C,55918153,NM_033109.4,NM_033109.4:c.161+2645A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.16,0.0041,1KG_SAS_AF,PNPT1
438232,2:55918189:T>G,55918189,NM_033109.4,NM_033109.4:c.161+2609A>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.257,0.3262,1KG_SAS_AF,PNPT1
438233,2:55918214:C>T,55918214,NM_033109.4,NM_033109.4:c.161+2584G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.93,0.0008,1KG_AFR_AF,PNPT1
438234,2:55918218:G>C,55918218,NM_033109.4,NM_033109.4:c.161+2580C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.55,0.001,1KG_EAS_AF,PNPT1
438235,2:55918272:A>C,55918272,NM_033109.4,NM_033109.4:c.161+2526T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.383,0.001,1KG_EAS_AF,PNPT1
438236,2:55918305:C>A,55918305,NM_033109.4,NM_033109.4:c.161+2493G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.24,0.001,1KG_SAS_AF,PNPT1
438237,2:55918309:C>T,55918309,NM_033109.4,NM_033109.4:c.161+2489G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.495,\N,\N,PNPT1
438238,2:55918317:C>A,55918317,NM_033109.4,NM_033109.4:c.161+2481G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.504,\N,\N,PNPT1
438239,2:55918334:C>T,55918334,NM_033109.4,NM_033109.4:c.161+2464G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.696,0.0008,1KG_AFR_AF,PNPT1
438240,2:55918357:T>C,55918357,NM_033109.4,NM_033109.4:c.161+2441A>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.36,0.1534,1KG_SAS_AF,PNPT1
438241,2:55918378:T>G,55918378,NM_033109.4,NM_033109.4:c.161+2420A>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.569,0.001,1KG_SAS_AF,PNPT1
438242,2:55918382:A>G,55918382,NM_033109.4,NM_033109.4:c.161+2416T>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,5.736,0.0058,1KG_AMR_AF,PNPT1
438243,2:55918397:G>C,55918397,NM_033109.4,NM_033109.4:c.161+2401C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.362,\N,\N,PNPT1
438244,2:55918399:T>C,55918399,NM_033109.4,NM_033109.4:c.161+2399A>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.277,0.0091,1KG_AFR_AF,PNPT1
438245,2:55918403:T>C,55918403,NM_033109.4,NM_033109.4:c.161+2395A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.768,\N,\N,PNPT1
438246,2:55918409:G>A,55918409,NM_033109.4,NM_033109.4:c.161+2389C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.421,0.0008,1KG_AFR_AF,PNPT1
438247,2:55918430:A>C,55918430,NM_033109.4,NM_033109.4:c.161+2368T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.468,\N,\N,PNPT1
438248,2:55918458:T>C,55918458,NM_033109.4,NM_033109.4:c.161+2340A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.627,0.001,1KG_SAS_AF,PNPT1
438249,2:55918482:T>C,55918482,NM_033109.4,NM_033109.4:c.161+2316A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.404,\N,\N,PNPT1
438250,2:55918545:G>C,55918545,NM_033109.4,NM_033109.4:c.161+2253C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.24,0.001,1KG_SAS_AF,PNPT1
438251,2:55918574:A>G,55918574,NM_033109.4,NM_033109.4:c.161+2224T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.84,0.0038,1KG_AFR_AF,PNPT1
438252,2:55918580:G>T,55918580,NM_033109.4,NM_033109.4:c.161+2218C>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.98,0.0109,1KG_EAS_AF,PNPT1
438253,2:55918588:TGAAA>T,55918588,NM_033109.4,NM_033109.4:c.161+2206_161+2209del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.741,0.0031,1KG_SAS_AF,PNPT1
438254,2:55918593:G>C,55918593,NM_033109.4,NM_033109.4:c.161+2205C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.629,\N,\N,PNPT1
438255,2:55918648:C>T,55918648,NM_033109.4,NM_033109.4:c.161+2150G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.799,0.0029,1KG_AMR_AF,PNPT1
438256,2:55918649:G>A,55918649,NM_033109.4,NM_033109.4:c.161+2149C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.362,\N,\N,PNPT1
438257,2:55918653:T>C,55918653,NM_033109.4,NM_033109.4:c.161+2145A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.95,0.001,1KG_SAS_AF,PNPT1
438258,2:55918684:G>A,55918684,NM_033109.4,NM_033109.4:c.161+2114C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.755,0.001,1KG_EAS_AF,PNPT1
438259,2:55918693:T>C,55918693,NM_033109.4,NM_033109.4:c.161+2105A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.251,\N,\N,PNPT1
438260,2:55918702:G>A,55918702,NM_033109.4,NM_033109.4:c.161+2096C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.62,\N,\N,PNPT1
438261,2:55918736:G>A,55918736,NM_033109.4,NM_033109.4:c.161+2062C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.522,0.001,1KG_EAS_AF,PNPT1
438262,2:55918745:T>C,55918745,NM_033109.4,NM_033109.4:c.161+2053A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.943,\N,\N,PNPT1
438263,2:55918837:T>C,55918837,NM_033109.4,NM_033109.4:c.161+1961A>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.122,0.0112,1KG_SAS_AF,PNPT1
438264,2:55918844:T>A,55918844,NM_033109.4,NM_033109.4:c.161+1954A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.61,\N,\N,PNPT1
438265,2:55918853:T>C,55918853,NM_033109.4,NM_033109.4:c.161+1945A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.814,0.003,1KG_EAS_AF,PNPT1
438266,2:55918895:T>C,55918895,NM_033109.4,NM_033109.4:c.161+1903A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.091,0.001,1KG_EAS_AF,PNPT1
438267,2:55918926:G>A,55918926,NM_033109.4,NM_033109.4:c.161+1872C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.775,\N,\N,PNPT1
438268,2:55918964:A>T,55918964,NM_033109.4,NM_033109.4:c.161+1834T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.262,\N,\N,PNPT1
438269,2:55918998:T>C,55918998,NM_033109.4,NM_033109.4:c.161+1800A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.75,\N,\N,PNPT1
438270,2:55919001:ATATATATATATATTTTTTTT>A,55919001,NM_033109.4,NM_033109.4:c.161+1777_161+1796del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.203,\N,\N,PNPT1
438271,2:55919001:ATATATATATATATTTTTTTTT>A,55919001,NM_033109.4,NM_033109.4:c.161+1776_161+1796del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.621,\N,\N,PNPT1
438272,2:55919002:TATATATATATA>T,55919002,NM_033109.4,NM_033109.4:c.161+1785_161+1795del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.066,\N,\N,PNPT1
438273,2:55919003:A>T,55919003,NM_033109.4,NM_033109.4:c.161+1795T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.124,\N,\N,PNPT1
438274,2:55919003:ATATATATATATTTTTTTTTT>A,55919003,NM_033109.4,NM_033109.4:c.161+1775_161+1794del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.79,\N,\N,PNPT1
438275,2:55919005:A>T,55919005,NM_033109.4,NM_033109.4:c.161+1793T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.126,\N,\N,PNPT1
438276,2:55919006:T>TATATATA,55919006,NM_033109.4,NM_033109.4:c.161+1785_161+1791dup,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438277,2:55919013:A>T,55919013,NM_033109.4,NM_033109.4:c.161+1785T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.139,\N,\N,PNPT1
438278,2:55919015:T>A,55919015,NM_033109.4,NM_033109.4:c.161+1783A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.763,\N,\N,PNPT1
438279,2:55919038:G>GT,55919038,NM_033109.4,NM_033109.4:c.161+1759_161+1760insA,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438280,2:55919038:G>GTT,55919038,NM_033109.4,NM_033109.4:c.161+1759_161+1760insAA,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438281,2:55919045:A>G,55919045,NM_033109.4,NM_033109.4:c.161+1753T>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.235,0.6437,1KG_AFR_AF,PNPT1
438282,2:55919058:A>G,55919058,NM_033109.4,NM_033109.4:c.161+1740T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.767,\N,\N,PNPT1
438283,2:55919073:G>A,55919073,NM_033109.4,NM_033109.4:c.161+1725C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.978,\N,\N,PNPT1
438284,2:55919178:G>A,55919178,NM_033109.4,NM_033109.4:c.161+1620C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.84,0.001,1KG_SAS_AF,PNPT1
438285,2:55919201:G>A,55919201,NM_033109.4,NM_033109.4:c.161+1597C>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.945,0.0716,1KG_SAS_AF,PNPT1
438286,2:55919239:C>T,55919239,NM_033109.4,NM_033109.4:c.161+1559G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.561,0.0014,1KG_AMR_AF,PNPT1
438287,2:55919251:C>T,55919251,NM_033109.4,NM_033109.4:c.161+1547G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.985,0.002,1KG_EAS_AF,PNPT1
438288,2:55919255:G>A,55919255,NM_033109.4,NM_033109.4:c.161+1543C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.086,\N,\N,PNPT1
438289,2:55919289:G>A,55919289,NM_033109.4,NM_033109.4:c.161+1509C>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,1.374,0.0109,1KG_EAS_AF,PNPT1
438290,2:55919320:G>A,55919320,NM_033109.4,NM_033109.4:c.161+1478C>T,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.553,0.3949,1KG_AFR_AF,PNPT1
438291,2:55919345:T>C,55919345,NM_033109.4,NM_033109.4:c.161+1453A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.064,\N,\N,PNPT1
438292,2:55919372:C>T,55919372,NM_033109.4,NM_033109.4:c.161+1426G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.033,\N,\N,PNPT1
438293,2:55919401:G>C,55919401,NM_033109.4,NM_033109.4:c.161+1397C>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.408,0.1524,1KG_SAS_AF,PNPT1
438294,2:55919418:T>G,55919418,NM_033109.4,NM_033109.4:c.161+1380A>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.817,0.0068,1KG_AFR_AF,PNPT1
438295,2:55919441:C>T,55919441,NM_033109.4,NM_033109.4:c.161+1357G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.093,\N,\N,PNPT1
438296,2:55919491:C>T,55919491,NM_033109.4,NM_033109.4:c.161+1307G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,3.042,0.9826,1KG_AFR_AF,PNPT1
438297,2:55919537:T>C,55919537,NM_033109.4,NM_033109.4:c.161+1261A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.716,0.002,1KG_EAS_AF,PNPT1
438298,2:55919573:A>G,55919573,NM_033109.4,NM_033109.4:c.161+1225T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.189,0.0029,1KG_AMR_AF,PNPT1
438299,2:55919577:T>C,55919577,NM_033109.4,NM_033109.4:c.161+1221A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.795,0.001,1KG_EAS_AF,PNPT1
438300,2:55919582:G>A,55919582,NM_033109.4,NM_033109.4:c.161+1216C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.568,0.002,1KG_EUR_AF,PNPT1
438301,2:55919599:A>C,55919599,NM_033109.4,NM_033109.4:c.161+1199T>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.454,0.0119,1KG_EUR_AF,PNPT1
438302,2:55919636:C>G,55919636,NM_033109.4,NM_033109.4:c.161+1162G>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,2.441,0.3949,1KG_AFR_AF,PNPT1
438303,2:55919649:CT>C,55919649,NM_033109.4,NM_033109.4:c.161+1148del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.413,\N,\N,PNPT1
438304,2:55919658:T>A,55919658,NM_033109.4,NM_033109.4:c.161+1140A>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.135,0.0043,1KG_AMR_AF,PNPT1
438305,2:55919666:G>T,55919666,NM_033109.4,NM_033109.4:c.161+1132C>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,0.568,0.1524,1KG_SAS_AF,PNPT1
438306,2:55919670:C>T,55919670,NM_033109.4,NM_033109.4:c.161+1128G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.825,0.0015,1KG_AFR_AF,PNPT1
438307,2:55919759:G>T,55919759,NM_033109.4,NM_033109.4:c.161+1039C>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.33,0.0038,1KG_AFR_AF,PNPT1
438308,2:55919815:T>C,55919815,NM_033109.4,NM_033109.4:c.161+983A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.532,0.001,1KG_SAS_AF,PNPT1
438309,2:55919816:A>G,55919816,NM_033109.4,NM_033109.4:c.161+982T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.954,0.0008,1KG_AFR_AF,PNPT1
438310,2:55919823:T>C,55919823,NM_033109.4,NM_033109.4:c.161+975A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.244,\N,\N,PNPT1
438311,2:55919846:C>T,55919846,NM_033109.4,NM_033109.4:c.161+952G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.399,0.0008,1KG_AFR_AF,PNPT1
438312,2:55919849:G>A,55919849,NM_033109.4,NM_033109.4:c.161+949C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.486,0.001,1KG_SAS_AF,PNPT1
438313,2:55919853:C>T,55919853,NM_033109.4,NM_033109.4:c.161+945G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.877,0.0008,1KG_AFR_AF,PNPT1
438314,2:55919882:T>C,55919882,NM_033109.4,NM_033109.4:c.161+916A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.774,0.001,1KG_SAS_AF,PNPT1
438315,2:55919905:T>C,55919905,NM_033109.4,NM_033109.4:c.161+893A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.635,\N,\N,PNPT1
438316,2:55919910:G>C,55919910,NM_033109.4,NM_033109.4:c.161+888C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.864,\N,\N,PNPT1
438317,2:55919944:G>A,55919944,NM_033109.4,NM_033109.4:c.161+854C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.763,0.002,1KG_SAS_AF,PNPT1
438318,2:55919976:A>G,55919976,NM_033109.4,NM_033109.4:c.161+822T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.513,0.0015,1KG_AFR_AF,PNPT1
438319,2:55919983:C>A,55919983,NM_033109.4,NM_033109.4:c.161+815G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.617,\N,\N,PNPT1
438320,2:55920079:T>C,55920079,NM_033109.4,NM_033109.4:c.161+719A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.882,\N,\N,PNPT1
438321,2:55920093:T>C,55920093,NM_033109.4,NM_033109.4:c.161+705A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.475,0.001,1KG_EUR_AF,PNPT1
438322,2:55920110:C>G,55920110,NM_033109.4,NM_033109.4:c.161+688G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.307,\N,\N,PNPT1
438323,2:55920126:C>T,55920126,NM_033109.4,NM_033109.4:c.161+672G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.701,\N,\N,PNPT1
438324,2:55920154:T>C,55920154,NM_033109.4,NM_033109.4:c.161+644A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.486,\N,\N,PNPT1
438325,2:55920161:T>C,55920161,NM_033109.4,NM_033109.4:c.161+637A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.415,0.0014,1KG_AMR_AF,PNPT1
438326,2:55920193:T>C,55920193,NM_033109.4,NM_033109.4:c.161+605A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.661,0.0015,1KG_AFR_AF,PNPT1
438327,2:55920194:C>G,55920194,NM_033109.4,NM_033109.4:c.161+604G>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.32,0.0053,1KG_AFR_AF,PNPT1
438328,2:55920199:C>G,55920199,NM_033109.4,NM_033109.4:c.161+599G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.316,\N,\N,PNPT1
438329,2:55920210:C>CT,55920210,NM_033109.4,NM_033109.4:c.161+587dup,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438330,2:55920260:T>G,55920260,NM_033109.4,NM_033109.4:c.161+538A>C,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,16.8,0.0109,1KG_EAS_AF,PNPT1
438331,2:55920273:G>A,55920273,NM_033109.4,NM_033109.4:c.161+525C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,20.6,0.0008,1KG_AFR_AF,PNPT1
438332,2:55920305:C>T,55920305,NM_033109.4,NM_033109.4:c.161+493G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,13.08,0.0061,1KG_AFR_AF,PNPT1
438333,2:55920312:A>G,55920312,NM_033109.4,NM_033109.4:c.161+486T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.36,0.0008,1KG_AFR_AF,PNPT1
438334,2:55920316:G>T,55920316,NM_033109.4,NM_033109.4:c.161+482C>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.35,\N,\N,PNPT1
438335,2:55920319:G>A,55920319,NM_033109.4,NM_033109.4:c.161+479C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.02,\N,\N,PNPT1
438336,2:55920325:G>A,55920325,NM_033109.4,NM_033109.4:c.161+473C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.24,0.003,1KG_EUR_AF,PNPT1
438337,2:55920332:G>A,55920332,NM_033109.4,NM_033109.4:c.161+466C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.44,\N,\N,PNPT1
438338,2:55920335:G>C,55920335,NM_033109.4,NM_033109.4:c.161+463C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.357,0.001,1KG_EUR_AF,PNPT1
438339,2:55920337:G>C,55920337,NM_033109.4,NM_033109.4:c.161+461C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.934,0.001,1KG_EAS_AF,PNPT1
438340,2:55920341:GA>G,55920341,NM_033109.4,NM_033109.4:c.161+456del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,PNPT1
438341,2:55920349:G>C,55920349,NM_033109.4,NM_033109.4:c.161+449C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.675,\N,\N,PNPT1
438342,2:55920378:C>T,55920378,NM_033109.4,NM_033109.4:c.161+420G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,9.063,0.0337,1KG_SAS_AF,PNPT1
438343,2:55920385:G>A,55920385,NM_033109.4,NM_033109.4:c.161+413C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.898,\N,\N,PNPT1
438344,2:55920421:C>T,55920421,NM_033109.4,NM_033109.4:c.161+377G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,11.46,0.0061,1KG_AFR_AF,PNPT1
438345,2:55920440:C>G,55920440,NM_033109.4,NM_033109.4:c.161+358G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.559,0.001,1KG_EAS_AF,PNPT1
438346,2:55920453:G>A,55920453,NM_033109.4,NM_033109.4:c.161+345C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.27,0.001,1KG_EUR_AF,PNPT1
438347,2:55920469:C>A,55920469,NM_033109.4,NM_033109.4:c.161+329G>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.108,0.001,1KG_EUR_AF,PNPT1
438348,2:55920478:G>A,55920478,NM_033109.4,NM_033109.4:c.161+320C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.89,\N,\N,PNPT1
438349,2:55920485:C>T,55920485,NM_033109.4,NM_033109.4:c.161+313G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,6.831,0.0083,1KG_AFR_AF,PNPT1
438350,2:55920501:C>T,55920501,NM_033109.4,NM_033109.4:c.161+297G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.75,0.001,1KG_SAS_AF,PNPT1
438351,2:55920509:G>A,55920509,NM_033109.4,NM_033109.4:c.161+289C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.76,0.001,1KG_EAS_AF,PNPT1
438352,2:55920511:G>A,55920511,NM_033109.4,NM_033109.4:c.161+287C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.624,0.001,1KG_EAS_AF,PNPT1
438353,2:55920541:G>C,55920541,NM_033109.4,NM_033109.4:c.161+257C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.011,\N,\N,PNPT1
438354,2:55920552:G>A,55920552,NM_033109.4,NM_033109.4:c.161+246C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.439,0.001,1KG_EAS_AF,PNPT1
438355,2:55920600:G>A,55920600,NM_033109.4,NM_033109.4:c.161+198C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.3,0.0023,1KG_AFR_AF,PNPT1
438356,2:55920610:T>C,55920610,NM_033109.4,NM_033109.4:c.161+188A>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.438,0.0069,1KG_EAS_AF,PNPT1
438357,2:55920617:G>T,55920617,NM_033109.4,NM_033109.4:c.161+181C>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.458,0.002,1KG_EAS_AF,PNPT1
438358,2:55920621:G>A,55920621,NM_033109.4,NM_033109.4:c.161+177C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.921,0.003,1KG_EAS_AF,PNPT1
438359,2:55920633:G>A,55920633,NM_033109.4,NM_033109.4:c.161+165C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.361,\N,\N,PNPT1
438360,2:55920642:T>G,55920642,NM_033109.4,NM_033109.4:c.161+156A>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.594,\N,\N,PNPT1
438361,2:55920644:C>T,55920644,NM_033109.4,NM_033109.4:c.161+154G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,8.272,0.0121,1KG_AFR_AF,PNPT1
438362,2:55920663:T>C,55920663,NM_033109.4,NM_033109.4:c.161+135A>G,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,4.413,0.0755,1KG_EUR_AF,PNPT1
438363,2:55920675:T>C,55920675,NM_033109.4,NM_033109.4:c.161+123A>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.096,\N,\N,PNPT1
438364,2:55920729:G>A,55920729,NM_033109.4,NM_033109.4:c.161+69C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.916,\N,\N,PNPT1
438365,2:55920744:G>A,55920744,NM_033109.4,NM_033109.4:c.161+54C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.443,\N,\N,PNPT1
438366,2:55920747:G>A,55920747,NM_033109.4,NM_033109.4:c.161+51C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.695,0.0000151295,EXAC_NFE_AF,PNPT1
438367,2:55920749:C>T,55920749,NM_033109.4,NM_033109.4:c.161+49G>A,\N,\N,\N,1/27,Benign,\N,intron_variant,MODIFIER,\N,\N,7.114,0.1513,1KG_AFR_AF,PNPT1
438368,2:55920752:G>C,55920752,NM_033109.4,NM_033109.4:c.161+46C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.324,0.0000302563,EXAC_NFE_AF,PNPT1
438369,2:55920757:G>A,55920757,NM_033109.4,NM_033109.4:c.161+41C>T,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.745,0.000226963,EVS_AA_AF,PNPT1
438370,2:55920759:C>T,55920759,NM_033109.4,NM_033109.4:c.161+39G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.666,0.0000302618,EXAC_NFE_AF,PNPT1
438371,2:55920760:A>T,55920760,NM_033109.4,NM_033109.4:c.161+38T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.51,0.0008,1KG_AFR_AF,PNPT1
438372,2:55920761:C>T,55920761,NM_033109.4,NM_033109.4:c.161+37G>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.372,0.0000151226,EXAC_NFE_AF,PNPT1
438373,2:55920763:TTA>T,55920763,NM_033109.4,NM_033109.4:c.161+33_161+34del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.08,0.0000302425,EXAC_NFE_AF,PNPT1
438374,2:55920765:A>T,55920765,NM_033109.4,NM_033109.4:c.161+33T>A,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.434,0.0000151199,EXAC_NFE_AF,PNPT1
438375,2:55920767:G>C,55920767,NM_033109.4,NM_033109.4:c.161+31C>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.471,0.00023175,EXAC_EAS_AF,PNPT1
438376,2:55920770:A>C,55920770,NM_033109.4,NM_033109.4:c.161+28T>G,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.979,0.000927214,EXAC_EAS_AF,PNPT1
438377,2:55920779:A>G,55920779,NM_033109.4,NM_033109.4:c.161+19T>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.262,0.0000151003,EXAC_NFE_AF,PNPT1
438378,2:55920781:C>G,55920781,NM_033109.4,NM_033109.4:c.161+17G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.038,0.0041,1KG_SAS_AF,PNPT1
438379,2:55920782:GCA>G,55920782,NM_033109.4,NM_033109.4:c.161+14_161+15del,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.01,0.0000150957,EXAC_NFE_AF,PNPT1
438380,2:55920788:C>G,55920788,NM_033109.4,NM_033109.4:c.161+10G>C,\N,\N,\N,1/27,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.676,\N,\N,PNPT1
438381,2:55920792:C>G,55920792,NM_033109.4,NM_033109.4:c.161+6G>C,\N,\N,\N,1/27,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,9.865,0.0053,1KG_AFR_AF,PNPT1
438382,2:55920793:C>T,55920793,NM_033109.4,NM_033109.4:c.161+5G>A,\N,\N,\N,1/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,15.71,\N,\N,PNPT1
438383,2:55920795:T>G,55920795,NM_033109.4,NM_033109.4:c.161+3A>C,\N,\N,\N,1/27,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.25,0.0000607681,EXAC_SAS_AF,PNPT1
438384,2:55920800:G>A,55920800,NM_033109.4,NM_033109.4:c.159C>T,NP_149100.2:p.Asn53=,53,1/28,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,LOW,\N,\N,15.26,0.000115875,EXAC_EAS_AF,PNPT1
438385,2:55920800:G>C,55920800,NM_033109.4,NM_033109.4:c.159C>G,NP_149100.2:p.Asn53Lys,53,1/28,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,15.25,0.0000964134,EXAC_AFR_AF,PNPT1
438386,2:55920805:C>G,55920805,NM_033109.4,NM_033109.4:c.154G>C,NP_149100.2:p.Gly52Arg,52,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,31,0.0000150566,EXAC_NFE_AF,PNPT1
438387,2:55920805:C>T,55920805,NM_033109.4,NM_033109.4:c.154G>A,NP_149100.2:p.Gly52Ser,52,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,22.9,0.0000864454,EXAC_AMR_AF,PNPT1
438388,2:55920809:G>A,55920809,NM_033109.4,NM_033109.4:c.150C>T,NP_149100.2:p.Asp50=,50,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.897,0.0000150553,EXAC_NFE_AF,PNPT1
438389,2:55920810:T>A,55920810,NM_033109.4,NM_033109.4:c.149A>T,NP_149100.2:p.Asp50Val,50,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,PNPase/RNase PH domain;Ribosomal protein S5 domain 2-type fold,\N,22.7,0.0000150548,EXAC_NFE_AF,PNPT1
438390,2:55920812:C>A,55920812,NM_033109.4,NM_033109.4:c.147G>T,NP_149100.2:p.Val49=,49,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.67,0.0000150539,EXAC_NFE_AF,PNPT1
438391,2:55920822:G>C,55920822,NM_033109.4,NM_033109.4:c.137C>G,NP_149100.2:p.Ala46Gly,46,1/28,\N,Benign,\N,missense_variant,MODERATE,\N,\N,11.91,0.0051,1KG_SAS_AF,PNPT1
438392,2:55920825:C>A,55920825,NM_033109.4,NM_033109.4:c.134G>T,NP_149100.2:p.Arg45Leu,45,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.6,\N,\N,PNPT1
438393,2:55920826:G>T,55920826,NM_033109.4,NM_033109.4:c.133C>A,NP_149100.2:p.Arg45=,45,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.494,0.0000605694,EXAC_SAS_AF,PNPT1
438394,2:55920827:A>C,55920827,NM_033109.4,NM_033109.4:c.132T>G,NP_149100.2:p.Ser44=,44,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.183,0.0000150466,EXAC_NFE_AF,PNPT1
438395,2:55920828:G>A,55920828,NM_033109.4,NM_033109.4:c.131C>T,NP_149100.2:p.Ser44Phe,44,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.45,0.0000605694,EXAC_SAS_AF,PNPT1
438396,2:55920833:T>C,55920833,NM_033109.4,NM_033109.4:c.126A>G,NP_149100.2:p.Ala42=,42,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.419,0.0000963763,EXAC_AFR_AF,PNPT1
438397,2:55920837:C>G,55920837,NM_033109.4,NM_033109.4:c.122G>C,NP_149100.2:p.Ser41Thr,41,1/28,\N,Benign,\N,missense_variant,MODERATE,\N,\N,3.902,0.00967644,EXAC_FIN_AF,PNPT1
438398,2:55920848:T>A,55920848,NM_033109.4,NM_033109.4:c.111A>T,NP_149100.2:p.Ala37=,37,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.23,0.000060562,EXAC_SAS_AF,PNPT1
438399,2:55920856:C>T,55920856,NM_033109.4,NM_033109.4:c.103G>A,NP_149100.2:p.Val35Met,35,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,17.08,0.0000965437,EXAC_AFR_AF,PNPT1
438400,2:55920861:A>G,55920861,NM_033109.4,NM_033109.4:c.98T>C,NP_149100.2:p.Leu33Ser,33,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24,\N,\N,PNPT1
438401,2:55920866:G>T,55920866,NM_033109.4,NM_033109.4:c.93C>A,NP_149100.2:p.Thr31=,31,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.738,0.0000150739,EXAC_NFE_AF,PNPT1
438402,2:55920867:G>A,55920867,NM_033109.4,NM_033109.4:c.92C>T,NP_149100.2:p.Thr31Ile,31,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.06,0.0000150775,EXAC_NFE_AF,PNPT1
438403,2:55920871:G>A,55920871,NM_033109.4,NM_033109.4:c.88C>T,NP_149100.2:p.Leu30Phe,30,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.61,0.000060562,EXAC_SAS_AF,PNPT1
438404,2:55920872:T>C,55920872,NM_033109.4,NM_033109.4:c.87A>G,NP_149100.2:p.Ala29=,29,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.74,0.000060562,EXAC_SAS_AF,PNPT1
438405,2:55920874:C>A,55920874,NM_033109.4,NM_033109.4:c.85G>T,NP_149100.2:p.Ala29Ser,29,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.55,0.0000150971,EXAC_NFE_AF,PNPT1
438406,2:55920888:G>A,55920888,NM_033109.4,NM_033109.4:c.71C>T,NP_149100.2:p.Pro24Leu,24,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,16.66,0.002,1KG_EUR_AF,PNPT1
438407,2:55920890:C>T,55920890,NM_033109.4,NM_033109.4:c.69G>A,NP_149100.2:p.Leu23=,23,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.74,0.0000151144,EXAC_NFE_AF,PNPT1
438408,2:55920899:A>C,55920899,NM_033109.4,NM_033109.4:c.60T>G,NP_149100.2:p.Pro20=,20,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.008,0.000116279,EVS_EA_AF,PNPT1
438409,2:55920901:GACC>G,55920901,NM_033109.4,NM_033109.4:c.55_57del,NP_149100.2:p.Gly19del,19,1/28,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.28,0.00111359,EXAC_OTH_AF,PNPT1
438410,2:55920903:C>T,55920903,NM_033109.4,NM_033109.4:c.56G>A,NP_149100.2:p.Gly19Asp,19,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.294,0.000232396,EXAC_EAS_AF,PNPT1
438411,2:55920915:G>C,55920915,NM_033109.4,NM_033109.4:c.44C>G,NP_149100.2:p.Pro15Arg,15,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,16.09,0.000151561,EXAC_FIN_AF,PNPT1
438412,2:55920916:G>A,55920916,NM_033109.4,NM_033109.4:c.43C>T,NP_149100.2:p.Pro15Ser,15,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,19.77,0.0000152235,EXAC_NFE_AF,PNPT1
438413,2:55920918:C>T,55920918,NM_033109.4,NM_033109.4:c.41G>A,NP_149100.2:p.Arg14Gln,14,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,27.3,0.0000152249,EXAC_NFE_AF,PNPT1
438414,2:55920919:G>A,55920919,NM_033109.4,NM_033109.4:c.40C>T,NP_149100.2:p.Arg14Trp,14,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,26.4,0.00034662,EXAC_AMR_AF,PNPT1
438415,2:55920925:G>A,55920925,NM_033109.4,NM_033109.4:c.34C>T,NP_149100.2:p.Arg12Trp,12,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.8,0.0000984834,EXAC_AFR_AF,PNPT1
438416,2:55920930:C>T,55920930,NM_033109.4,NM_033109.4:c.29G>A,NP_149100.2:p.Cys10Tyr,10,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,18.71,0.000173461,EXAC_AMR_AF,PNPT1
438417,2:55920932:C>G,55920932,NM_033109.4,NM_033109.4:c.27G>C,NP_149100.2:p.Ser9=,9,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,19.58,0.000226963,EVS_AA_AF,PNPT1
438418,2:55920933:G>A,55920933,NM_033109.4,NM_033109.4:c.26C>T,NP_149100.2:p.Ser9Leu,9,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,21.4,0.001,1KG_EAS_AF,PNPT1
438419,2:55920933:G>C,55920933,NM_033109.4,NM_033109.4:c.26C>G,NP_149100.2:p.Ser9Trp,9,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,26.6,0.000467181,EXAC_EAS_AF,PNPT1
438420,2:55920936:C>T,55920936,NM_033109.4,NM_033109.4:c.23G>A,NP_149100.2:p.Cys8Tyr,8,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.8,0.0000868056,EXAC_AMR_AF,PNPT1
438421,2:55920938:G>A,55920938,NM_033109.4,NM_033109.4:c.21C>T,NP_149100.2:p.Cys7=,7,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.14,0.000153704,EXAC_FIN_AF,PNPT1
438422,2:55920939:C>T,55920939,NM_033109.4,NM_033109.4:c.20G>A,NP_149100.2:p.Cys7Tyr,7,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.6,\N,\N,PNPT1
438423,2:55920941:G>C,55920941,NM_033109.4,NM_033109.4:c.18C>G,NP_149100.2:p.Tyr6Ter,6,1/28,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,34,0.0000153946,EXAC_NFE_AF,PNPT1
438424,2:55920944:C>T,55920944,NM_033109.4,NM_033109.4:c.15G>A,NP_149100.2:p.Arg5=,5,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,15.09,0.000117014,EXAC_EAS_AF,PNPT1
438425,2:55920945:C>T,55920945,NM_033109.4,NM_033109.4:c.14G>A,NP_149100.2:p.Arg5Lys,5,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.31,0.000100725,EXAC_AFR_AF,PNPT1
438426,2:55920946:T>A,55920946,NM_033109.4,NM_033109.4:c.13A>T,NP_149100.2:p.Arg5Trp,5,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,25.5,\N,\N,PNPT1
438427,2:55920946:T>C,55920946,NM_033109.4,NM_033109.4:c.13A>G,NP_149100.2:p.Arg5Gly,5,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,21.1,0.0000154421,EXAC_NFE_AF,PNPT1
438428,2:55920948:C>A,55920948,NM_033109.4,NM_033109.4:c.11G>T,NP_149100.2:p.Cys4Phe,4,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,24.7,0.000234247,EXAC_EAS_AF,PNPT1
438429,2:55920949:A>C,55920949,NM_033109.4,NM_033109.4:c.10T>G,NP_149100.2:p.Cys4Gly,4,1/28,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,18.03,\N,\N,PNPT1
438430,2:55920950:G>C,55920950,NM_033109.4,NM_033109.4:c.9C>G,NP_149100.2:p.Ala3=,3,1/28,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.96,0.000015478,EXAC_NFE_AF,PNPT1
438431,2:55920951:G>A,55920951,NM_033109.4,NM_033109.4:c.8C>T,NP_149100.2:p.Ala3Val,3,1/28,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,25.5,0.000234577,EXAC_EAS_AF,PNPT1
438432,2:55920966:G>T,55920966,NM_033109.4,NM_033109.4:c.-8C>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,12.56,0.000118092,EXAC_EAS_AF,PNPT1
438433,2:55920970:C>A,55920970,NM_033109.4,NM_033109.4:c.-12G>T,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,16.05,0.0000472977,EXAC_NFE_AF,PNPT1
438434,2:55920971:G>T,55920971,NM_033109.4,NM_033109.4:c.-13C>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,10.89,0.0000157704,EXAC_NFE_AF,PNPT1
438435,2:55920972:C>T,55920972,NM_033109.4,NM_033109.4:c.-14G>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,11.93,0.000367602,EXAC_SAS_AF,PNPT1
438436,2:55920973:G>A,55920973,NM_033109.4,NM_033109.4:c.-15C>T,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,13.43,0.0000613196,EXAC_SAS_AF,PNPT1
438437,2:55920980:G>A,55920980,NM_033109.4,NM_033109.4:c.-22C>T,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,9.374,0.0000614553,EXAC_SAS_AF,PNPT1
438438,2:55920983:G>C,55920983,NM_033109.4,NM_033109.4:c.-25C>G,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,9.467,0.0000614175,EXAC_SAS_AF,PNPT1
438439,2:55920990:C>T,55920990,NM_033109.4,NM_033109.4:c.-32G>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,9.649,0.001,1KG_EAS_AF,PNPT1
438440,2:55920996:T>C,55920996,NM_033109.4,NM_033109.4:c.-38A>G,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,10.31,0.0000160896,EXAC_NFE_AF,PNPT1
438441,2:55920999:G>A,55920999,NM_033109.4,NM_033109.4:c.-41C>T,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,13.01,0.001,1KG_SAS_AF,PNPT1
438442,2:55921000:C>T,55921000,NM_033109.4,NM_033109.4:c.-42G>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,12.68,0.001,1KG_EUR_AF,PNPT1
438443,2:55921002:C>T,55921002,NM_033109.4,NM_033109.4:c.-44G>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,11.68,0.0000325172,EXAC_NFE_AF,PNPT1
438444,2:55921006:C>T,55921006,NM_033109.4,NM_033109.4:c.-48G>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,11.64,\N,\N,PNPT1
438445,2:55921008:G>A,55921008,NM_033109.4,NM_033109.4:c.-50C>T,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,6.715,0.0000166102,EXAC_NFE_AF,PNPT1
438446,2:55921025:G>A,55921025,NM_033109.4,NM_033109.4:c.-67C>T,\N,\N,1/28,\N,Benign,\N,5_prime_UTR_variant,MODIFIER,\N,\N,11.82,0.0069,1KG_EAS_AF,PNPT1
438447,2:55921040:G>T,55921040,NM_033109.4,NM_033109.4:c.-82C>A,\N,\N,1/28,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,11.51,\N,\N,PNPT